7-44183876-T-TTA |
c.*858_*859insTA |
- |
3-UTRInsertion |
10/10 |
- |
1 |
7-44183888-C-T |
c.*847G>A |
- |
3-UTRSNV |
10/10 |
- |
1 |
7-44183938-G-A |
c.*797C>T |
- |
3-UTRSNV |
10/10 |
- |
1 |
7-44184258-G-A |
c.*477C>T |
- |
3-UTRSNV |
10/10 |
- |
2 |
7-44184403-C-T |
c.*332G>A |
- |
3-UTRSNV |
10/10 |
- |
5 |
7-44184737-A-C |
c.1396T>G |
p.*466Gext*144 |
Missense |
10/10 |
- |
1 |
7-44184737-A-T |
c.1396T>A |
p.*466Rext*144 |
Missense |
10/10 |
- |
1 |
7-44184742-C-T |
c.1391G>A |
p.G464D |
Missense |
10/10 |
- |
1 |
7-44184744-CAG-GAT |
c.1387_1389delinsATC |
p.L463I |
Missense |
10/10 |
- |
1 |
7-44184745-A-G |
c.1388T>C |
p.L463P |
Missense |
10/10 |
- |
1 |
7-44184745-AG-GT |
c.1387_1388delinsAC |
p.L463T |
Missense |
10/10 |
- |
1 |
7-44184747-C-A |
c.1386G>T |
p.M462I |
Missense |
10/10 |
- |
7 |
7-44184747-C-G |
c.1386G>C |
p.M462I |
Missense |
10/10 |
- |
1 |
7-44184747-C-T |
c.1386G>A |
p.M462I |
Missense |
10/10 |
- |
5 |
7-44184748-CATACAGGCCTTCT-C |
c.1373_1385del |
p.K458Sfs*152 |
Frameshift |
10/10 |
- |
1 |
7-44184749-T-C |
c.1384A>G |
p.M462V |
Missense |
10/10 |
- |
2 |
7-44184754-GC-CG |
c.1378_1379delinsCG |
p.A460R |
Missense |
10/10 |
- |
3 |
7-44184754-GGCCT-G |
c.1376_1379del |
p.K459Tfs*154 |
Frameshift |
10/10 |
- |
1 |
7-44184754-GC-G |
c.1378del |
p.A460Pfs*154 |
Frameshift |
10/10 |
- |
1 |
7-44184748-ATACAGGCCTTCT-A |
c.1373_1384del |
p.K458_C461del |
InFrameDeletion |
10/10 |
- |
2 |
7-44184757-T-C |
c.1376A>G |
p.K459R |
Missense |
10/10 |
- |
1 |
7-44184757-TT-AG |
c.1375_1376delinsCT |
p.K459L |
Missense |
10/10 |
- |
1 |
7-44184756-CTTCT-C |
c.1373_1376del |
p.K458Rfs*155 |
Frameshift |
10/10 |
- |
1 |
7-44184759-C-A |
c.1374G>T |
p.K458N |
Missense |
10/10 |
- |
1 |
7-44184759-C-G |
c.1374G>C |
p.K458N |
Missense |
10/10 |
- |
1 |
7-44184759-CT-GA |
c.1373_1374delinsTC |
p.K458I |
Missense |
10/10 |
- |
1 |
7-44184759-CT-GC |
c.1373_1374delinsGC |
p.K458S |
Missense |
10/10 |
- |
1 |
7-44184759-CTT-AAA |
c.1372_1374delinsTTT |
p.K458F |
Missense |
10/10 |
- |
1 |
7-44184759-CTT-ACA |
c.1372_1374delinsTGT |
p.K458C |
Missense |
10/10 |
- |
1 |
7-44184759-CTT-ATA |
c.1372_1374delinsTAT |
p.K458Y |
Missense |
10/10 |
- |
1 |
7-44184759-CTT-ATG |
c.1372_1374delinsCAT |
p.K458H |
Missense |
10/10 |
- |
1 |
7-44184759-CTT-GTC |
c.1372_1374delinsGAC |
p.K458D |
Missense |
10/10 |
- |
1 |
7-44184758-TCTTACAGGCCACCGCCGAGACCAGGGCCGCGCC-T |
c.1342_1374del |
p.G448_K458del |
InFrameDeletion |
10/10 |
- |
1 |
7-44184758-TCTTA-T |
c.1371_1374del |
p.C457* |
Frameshift |
10/10 |
- |
1 |
7-44184760-CTT-C |
c.1372_1373del |
p.K458Efs*75 |
Frameshift |
10/10 |
- |
2 |
7-44184760-T-A |
c.1373A>T |
p.K458M |
Missense |
10/10 |
- |
1 |
7-44184760-T-C |
c.1373A>G |
p.K458R |
Missense |
10/10 |
- |
3 |
7-44184760-T-G |
c.1373A>C |
p.K458T |
Missense |
10/10 |
- |
1 |
7-44184760-TT-AC |
c.1372_1373delinsGT |
p.K458V |
Missense |
10/10 |
- |
1 |
7-44184760-TT-AG |
c.1372_1373delinsCT |
p.K458L |
Missense |
10/10 |
- |
1 |
7-44184760-TT-CA |
c.1372_1373delinsTG |
p.K458W |
Missense |
10/10 |
- |
1 |
7-44184760-TT-CC |
c.1372_1373delinsGG |
p.K458G |
Missense |
10/10 |
- |
1 |
7-44184760-TT-GC |
c.1372_1373delinsGC |
p.K458A |
Missense |
10/10 |
- |
1 |
7-44184760-TT-GG |
c.1372_1373delinsCC |
p.K458P |
Missense |
10/10 |
- |
1 |
7-44184761-T-C |
c.1372A>G |
p.K458E |
Missense |
10/10 |
- |
1 |
7-44184761-T-G |
c.1372A>C |
p.K458Q |
Missense |
10/10 |
- |
1 |
7-44184762-A-C |
c.1371T>G |
p.C457W |
Missense |
10/10 |
- |
2 |
7-44184762-ACA-CAT |
c.1369_1371delinsATG |
p.C457M |
Missense |
10/10 |
- |
1 |
7-44184762-ACA-CTC |
c.1369_1371delinsGAG |
p.C457E |
Missense |
10/10 |
- |
1 |
7-44184762-ACA-CTT |
c.1369_1371delinsAAG |
p.C457K |
Missense |
10/10 |
- |
1 |
7-44184762-ACA-TTG |
c.1369_1371delinsCAA |
p.C457Q |
Missense |
10/10 |
- |
1 |
7-44184763-C-A |
c.1370G>T |
p.C457F |
Missense |
10/10 |
- |
1 |
7-44184763-CA-AC |
c.1369_1370delinsGT |
p.C457V |
Missense |
10/10 |
- |
3 |
7-44184763-CA-AG |
c.1369_1370delinsCT |
p.C457L |
Missense |
10/10 |
- |
1 |
7-44184763-CA-AT |
c.1369_1370delinsAT |
p.C457I |
Missense |
10/10 |
- |
1 |
7-44184763-CA-GC |
c.1369_1370delinsGC |
p.C457A |
Missense |
10/10 |
- |
1 |
7-44184763-CA-GG |
c.1369_1370delinsCC |
p.C457P |
Missense |
10/10 |
- |
1 |
7-44184763-CA-GT |
c.1369_1370delinsAC |
p.C457T |
Missense |
10/10 |
- |
1 |
7-44184763-CA-TC |
c.1369_1370delinsGA |
p.C457D |
Missense |
10/10 |
- |
1 |
7-44184763-CA-TG |
c.1369_1370inv |
p.C457H |
Missense |
10/10 |
- |
1 |
7-44184763-CA-TT |
c.1369_1370delinsAA |
p.C457N |
Missense |
10/10 |
- |
1 |
7-44184763-C-T |
c.1370G>A |
p.C457Y |
Missense |
10/10 |
- |
1 |
7-44184763-C-G |
c.1370G>C |
p.C457S |
Missense |
10/10 |
- |
1 |
7-44184764-A-C |
c.1369T>G |
p.C457G |
Missense |
10/10 |
- |
1 |
7-44184764-A-G |
c.1369T>C |
p.C457R |
Missense |
10/10 |
- |
2 |
7-44184764-A-T |
c.1369T>A |
p.C457S |
Missense |
10/10 |
- |
1 |
7-44184765-G-A |
c.1368C>T |
p.A456= |
Synonymous |
10/10 |
- |
1 |
7-44184765-G-C |
c.1368C>G |
p.A456= |
Synonymous |
10/10 |
- |
1 |
7-44184765-GGC-CAT |
c.1366_1368delinsATG |
p.A456M |
Missense |
10/10 |
- |
1 |
7-44184765-GGC-CCA |
c.1366_1368delinsTGG |
p.A456W |
Missense |
10/10 |
- |
1 |
7-44184765-GGC-CTT |
c.1366_1368delinsAAG |
p.A456K |
Missense |
10/10 |
- |
1 |
7-44184765-GG-CT |
c.1367_1368delinsAG |
p.A456E |
Missense |
10/10 |
- |
1 |
7-44184765-GGC-TTG |
c.1366_1368delinsCAA |
p.A456Q |
Missense |
10/10 |
- |
1 |
7-44184765-G-T |
c.1368C>A |
p.A456= |
Synonymous |
10/10 |
- |
1 |
7-44184766-G-A |
c.1367C>T |
p.A456V |
Missense |
10/10 |
- |
24 |
7-44184766-G-C |
c.1367C>G |
p.A456G |
Missense |
10/10 |
- |
1 |
7-44184766-GC-AA |
c.1366_1367delinsTT |
p.A456F |
Missense |
10/10 |
- |
1 |
7-44184766-GC-AG |
c.1366_1367delinsCT |
p.A456L |
Missense |
10/10 |
- |
1 |
7-44184766-GC-AT |
c.1366_1367delinsAT |
p.A456I |
Missense |
10/10 |
- |
1 |
7-44184766-GC-CA |
c.1366_1367delinsTG |
p.A456C |
Missense |
10/10 |
- |
1 |
7-44184766-GC-CG |
c.1366_1367delinsCG |
p.A456R |
Missense |
10/10 |
- |
1 |
7-44184766-GC-TA |
c.1366_1367delinsTA |
p.A456Y |
Missense |
10/10 |
- |
1 |
7-44184766-GC-TG |
c.1366_1367delinsCA |
p.A456H |
Missense |
10/10 |
- |
1 |
7-44184766-GC-TT |
c.1366_1367delinsAA |
p.A456N |
Missense |
10/10 |
- |
1 |
7-44184766-G-T |
c.1367C>A |
p.A456D |
Missense |
10/10 |
- |
1 |
7-44184767-C-A |
c.1366G>T |
p.A456S |
Missense |
10/10 |
- |
1 |
7-44184767-C-G |
c.1366G>C |
p.A456P |
Missense |
10/10 |
- |
1 |
7-44184767-C-T |
c.1366G>A |
p.A456T |
Missense |
10/10 |
- |
1 |
7-44184768-CAC-AAA |
c.1363_1365delinsTTT |
p.V455F |
Missense |
10/10 |
- |
1 |
7-44184768-CAC-ACA |
c.1363_1365delinsTGT |
p.V455C |
Missense |
10/10 |
- |
1 |
7-44184768-CAC-ATA |
c.1363_1365delinsTAT |
p.V455Y |
Missense |
10/10 |
- |
1 |
7-44184768-CAC-ATG |
c.1363_1365delinsCAT |
p.V455H |
Missense |
10/10 |
- |
1 |
7-44184768-CAC-GAT |
c.1363_1365delinsATC |
p.V455I |
Missense |
10/10 |
- |
1 |
7-44184768-CAC-GTT |
c.1363_1365delinsAAC |
p.V455N |
Missense |
10/10 |
- |
1 |
7-44184768-CA-GT |
c.1364_1365delinsAC |
p.V455D |
Missense |
10/10 |
- |
1 |
7-44184769-A-C |
c.1364T>G |
p.V455G |
Missense |
10/10 |
- |
1 |
7-44184769-AC-CA |
c.1363_1364delinsTG |
p.V455W |
Missense |
10/10 |
- |
1 |
7-44184769-AC-CT |
c.1363_1364delinsAG |
p.V455R |
Missense |
10/10 |
- |
1 |
7-44184769-AC-GA |
c.1363_1364delinsTC |
p.V455S |
Missense |
10/10 |
- |
2 |
7-44184769-AC-GG |
c.1363_1364delinsCC |
p.V455P |
Missense |
10/10 |
- |
1 |
7-44184769-AC-GT |
c.1363_1364inv |
p.V455T |
Missense |
10/10 |
- |
1 |
7-44184769-AC-TG |
c.1363_1364delinsCA |
p.V455Q |
Missense |
10/10 |
- |
1 |
7-44184769-AC-TT |
c.1363_1364delinsAA |
p.V455K |
Missense |
10/10 |
- |
1 |
7-44184769-A-G |
c.1364T>C |
p.V455A |
Missense |
10/10 |
- |
2 |
7-44184769-A-T |
c.1364T>A |
p.V455E |
Missense |
10/10 |
- |
9 |
7-44184769-A-ACTG |
c.1363_1364insCAG |
p.A454dup |
InFrameInsertion |
10/10 |
- |
1 |
7-44184770-C-A |
c.1363G>T |
p.V455L |
Missense |
10/10 |
- |
5 |
7-44184770-C-G |
c.1363G>C |
p.V455L |
Missense |
10/10 |
- |
5 |
7-44184770-C-T |
c.1363G>A |
p.V455M |
Missense |
10/10 |
- |
18 |
7-44184764-AGGCCACCGCCGAGACCAGGGCCGCGCCCC-A |
c.1340_1368del |
p.R447Lfs*2 |
Frameshift |
10/10 |
- |
4 |
7-44184771-CGC-AAA |
c.1360_1362delinsTTT |
p.A454F |
Missense |
10/10 |
- |
1 |
7-44184771-CGC-ACA |
c.1360_1362delinsTGT |
p.A454C |
Missense |
10/10 |
- |
1 |
7-44184771-CGC-ATA |
c.1360_1362delinsTAT |
p.A454Y |
Missense |
10/10 |
- |
1 |
7-44184771-CGC-ATG |
c.1360_1362delinsCAT |
p.A454H |
Missense |
10/10 |
- |
1 |
7-44184771-CGC-GAT |
c.1360_1362delinsATC |
p.A454I |
Missense |
10/10 |
- |
1 |
7-44184771-CGC-GTT |
c.1360_1362delinsAAC |
p.A454N |
Missense |
10/10 |
- |
1 |
7-44184771-CG-GT |
c.1361_1362delinsAC |
p.A454D |
Missense |
10/10 |
- |
1 |
7-44184771-C-T |
c.1362G>A |
p.A454= |
Synonymous |
10/10 |
- |
1 |
7-44184772-G-A |
c.1361C>T |
p.A454V |
Missense |
10/10 |
- |
6 |
7-44184772-G-C |
c.1361C>G |
p.A454G |
Missense |
10/10 |
- |
1 |
7-44184772-GC-AG |
c.1360_1361delinsCT |
p.A454L |
Missense |
10/10 |
- |
1 |
7-44184772-GC-AT |
c.1360_1361delinsAT |
p.A454M |
Missense |
10/10 |
- |
1 |
7-44184772-GC-CA |
c.1360_1361delinsTG |
p.A454W |
Missense |
10/10 |
- |
1 |
7-44184772-GC-CT |
c.1360_1361delinsAG |
p.A454R |
Missense |
10/10 |
- |
1 |
7-44184772-GC-TG |
c.1360_1361delinsCA |
p.A454Q |
Missense |
10/10 |
- |
1 |
7-44184772-GC-TT |
c.1360_1361delinsAA |
p.A454K |
Missense |
10/10 |
- |
1 |
7-44184772-G-T |
c.1361C>A |
p.A454E |
Missense |
10/10 |
- |
5 |
7-44184773-C-A |
c.1360G>T |
p.A454S |
Missense |
10/10 |
- |
1 |
7-44184773-C-G |
c.1360G>C |
p.A454P |
Missense |
10/10 |
- |
1 |
7-44184773-C-T |
c.1360G>A |
p.A454T |
Missense |
10/10 |
- |
2 |
7-44184772-GC-G |
c.1360del |
p.A454Rfs*160 |
Frameshift |
10/10 |
- |
1 |
7-44184774-C-A |
c.1359G>T |
p.S453= |
Synonymous |
10/10 |
- |
1 |
7-44184774-CCGA-C |
c.1357_1359del |
p.S453del |
InFrameDeletion |
10/10 |
- |
1 |
7-44184774-CG-AA |
c.1358_1359delinsTT |
p.S453F |
Missense |
10/10 |
- |
1 |
7-44184774-CGA-ATG |
c.1357_1359delinsCAT |
p.S453H |
Missense |
10/10 |
- |
1 |
7-44184774-CG-AC |
c.1358_1359delinsGT |
p.S453C |
Missense |
10/10 |
- |
1 |
7-44184774-CGA-GAT |
c.1357_1359delinsATC |
p.S453I |
Missense |
10/10 |
- |
2 |
7-44184774-CGA-GTC |
c.1357_1359delinsGAC |
p.S453D |
Missense |
10/10 |
- |
1 |
7-44184774-CGA-GTT |
c.1357_1359delinsAAC |
p.S453N |
Missense |
10/10 |
- |
2 |
7-44184774-CG-AT |
c.1358_1359delinsAT |
p.S453Y |
Missense |
10/10 |
- |
1 |
7-44184774-CGA-TTGAAG |
c.1357_1359delinsCTTCAA |
p.S453delinsLQ |
MultiAAMissense |
10/10 |
- |
1 |
7-44184775-G-A |
c.1358C>T |
p.S453L |
Missense |
10/10 |
- |
7 |
7-44184775-GA-AC |
c.1357_1358delinsGT |
p.S453V |
Missense |
10/10 |
- |
1 |
7-44184775-GA-AT |
c.1357_1358delinsAT |
p.S453M |
Missense |
10/10 |
- |
1 |
7-44184775-GA-CC |
c.1357_1358delinsGG |
p.S453G |
Missense |
10/10 |
- |
1 |
7-44184775-GA-CT |
c.1357_1358delinsAG |
p.S453R |
Missense |
10/10 |
- |
1 |
7-44184775-GAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGC-TGTA |
c.1301_1358delinsTACA |
p.C434_S453delinsLQ |
MultiAAMissense |
10/10 |
- |
3 |
7-44184775-GA-TC |
c.1357_1358inv |
p.S453E |
Missense |
10/10 |
- |
1 |
7-44184775-GA-TG |
c.1357_1358delinsCA |
p.S453Q |
Missense |
10/10 |
- |
1 |
7-44184775-GA-TT |
c.1357_1358delinsAA |
p.S453K |
Missense |
10/10 |
- |
1 |
7-44184775-G-C |
c.1358C>G |
p.S453W |
Missense |
10/10 |
- |
4 |
7-44184775-G-T |
c.1358C>A |
p.S453* |
Nonsense |
10/10 |
- |
1 |
7-44184776-A-C |
c.1357T>G |
p.S453A |
Missense |
10/10 |
- |
3 |
7-44184776-A-G |
c.1357T>C |
p.S453P |
Missense |
10/10 |
- |
1 |
7-44184776-A-T |
c.1357T>A |
p.S453T |
Missense |
10/10 |
- |
1 |
7-44184777-GAC-CAT |
c.1354_1356delinsATG |
p.V452M |
Missense |
10/10 |
- |
1 |
7-44184777-GAC-CCA |
c.1354_1356delinsTGG |
p.V452W |
Missense |
10/10 |
- |
1 |
7-44184777-GAC-CTT |
c.1354_1356delinsAAG |
p.V452K |
Missense |
10/10 |
- |
1 |
7-44184777-GA-CT |
c.1355_1356delinsAG |
p.V452E |
Missense |
10/10 |
- |
1 |
7-44184777-GAC-TTG |
c.1354_1356delinsCAA |
p.V452Q |
Missense |
10/10 |
- |
1 |
7-44184778-A-C |
c.1355T>G |
p.V452G |
Missense |
10/10 |
- |
1 |
7-44184778-AC-CA |
c.1354_1355delinsTG |
p.V452C |
Missense |
10/10 |
- |
1 |
7-44184778-AC-CG |
c.1354_1355delinsCG |
p.V452R |
Missense |
10/10 |
- |
1 |
7-44184778-AC-CT |
c.1354_1355delinsAG |
p.V452S |
Missense |
10/10 |
- |
1 |
7-44184778-AC-GG |
c.1354_1355delinsCC |
p.V452P |
Missense |
10/10 |
- |
1 |
7-44184778-AC-GT |
c.1354_1355inv |
p.V452T |
Missense |
10/10 |
- |
1 |
7-44184778-AC-TA |
c.1354_1355delinsTA |
p.V452Y |
Missense |
10/10 |
- |
1 |
7-44184778-AC-TG |
c.1354_1355delinsCA |
p.V452H |
Missense |
10/10 |
- |
1 |
7-44184778-AC-TT |
c.1354_1355delinsAA |
p.V452N |
Missense |
10/10 |
- |
1 |
7-44184778-A-G |
c.1355T>C |
p.V452A |
Missense |
10/10 |
- |
1 |
7-44184778-A-T |
c.1355T>A |
p.V452D |
Missense |
10/10 |
- |
1 |
7-44184779-C-A |
c.1354G>T |
p.V452F |
Missense |
10/10 |
- |
1 |
7-44184779-C-G |
c.1354G>C |
p.V452L |
Missense |
10/10 |
- |
6 |
7-44184779-C-T |
c.1354G>A |
p.V452I |
Missense |
10/10 |
- |
3 |
7-44184780-CA-AT |
c.1352_1353delinsAT |
p.L451H |
Missense |
10/10 |
- |
1 |
7-44184780-CAG-AAA |
c.1351_1353delinsTTT |
p.L451F |
Missense |
10/10 |
- |
1 |
7-44184780-CAG-ACA |
c.1351_1353delinsTGT |
p.L451C |
Missense |
10/10 |
- |
1 |
7-44184780-CAG-ATA |
c.1351_1353delinsTAT |
p.L451Y |
Missense |
10/10 |
- |
1 |
7-44184780-CAG-GAT |
c.1351_1353delinsATC |
p.L451I |
Missense |
10/10 |
- |
1 |
7-44184780-CAG-GTC |
c.1351_1353delinsGAC |
p.L451D |
Missense |
10/10 |
- |
1 |
7-44184780-CAG-GTT |
c.1351_1353delinsAAC |
p.L451N |
Missense |
10/10 |
- |
1 |
7-44184781-A-C |
c.1352T>G |
p.L451R |
Missense |
10/10 |
- |
1 |
7-44184781-A-G |
c.1352T>C |
p.L451P |
Missense |
10/10 |
- |
2 |
7-44184781-AG-CA |
c.1351_1352delinsTG |
p.L451W |
Missense |
10/10 |
- |
1 |
7-44184781-AG-CC |
c.1351_1352delinsGG |
p.L451G |
Missense |
10/10 |
- |
1 |
7-44184781-AG-GA |
c.1351_1352delinsTC |
p.L451S |
Missense |
10/10 |
- |
1 |
7-44184781-AG-GC |
c.1351_1352delinsGC |
p.L451A |
Missense |
10/10 |
- |
1 |
7-44184781-AG-GT |
c.1351_1352delinsAC |
p.L451T |
Missense |
10/10 |
- |
1 |
7-44184781-AG-TC |
c.1351_1352delinsGA |
p.L451E |
Missense |
10/10 |
- |
1 |
7-44184781-AG-TT |
c.1351_1352delinsAA |
p.L451K |
Missense |
10/10 |
- |
1 |
7-44184781-A-T |
c.1352T>A |
p.L451Q |
Missense |
10/10 |
- |
1 |
7-44184782-G-C |
c.1351C>G |
p.L451V |
Missense |
10/10 |
- |
1 |
7-44184782-G-T |
c.1351C>A |
p.L451M |
Missense |
10/10 |
- |
1 |
7-44184783-GGC-CAT |
c.1348_1350delinsATG |
p.A450M |
Missense |
10/10 |
- |
1 |
7-44184783-GGC-CCA |
c.1348_1350delinsTGG |
p.A450W |
Missense |
10/10 |
- |
1 |
7-44184783-GGC-CTT |
c.1348_1350delinsAAG |
p.A450K |
Missense |
10/10 |
- |
1 |
7-44184783-GG-CT |
c.1349_1350delinsAG |
p.A450E |
Missense |
10/10 |
- |
1 |
7-44184783-GGC-TTG |
c.1348_1350delinsCAA |
p.A450Q |
Missense |
10/10 |
- |
1 |
7-44184784-G-A |
c.1349C>T |
p.A450V |
Missense |
10/10 |
- |
4 |
7-44184784-G-C |
c.1349C>G |
p.A450G |
Missense |
10/10 |
- |
1 |
7-44184784-GC-AA |
c.1348_1349delinsTT |
p.A450F |
Missense |
10/10 |
- |
1 |
7-44184784-GC-AG |
c.1348_1349delinsCT |
p.A450L |
Missense |
10/10 |
- |
1 |
7-44184784-GC-AT |
c.1348_1349delinsAT |
p.A450I |
Missense |
10/10 |
- |
1 |
7-44184784-GC-CA |
c.1348_1349delinsTG |
p.A450C |
Missense |
10/10 |
- |
1 |
7-44184784-GC-CG |
c.1348_1349delinsCG |
p.A450R |
Missense |
10/10 |
- |
1 |
7-44184784-GC-TA |
c.1348_1349delinsTA |
p.A450Y |
Missense |
10/10 |
- |
1 |
7-44184784-GC-TG |
c.1348_1349delinsCA |
p.A450H |
Missense |
10/10 |
- |
1 |
7-44184784-GC-TT |
c.1348_1349delinsAA |
p.A450N |
Missense |
10/10 |
- |
1 |
7-44184784-G-T |
c.1349C>A |
p.A450D |
Missense |
10/10 |
- |
2 |
7-44184785-C-A |
c.1348G>T |
p.A450S |
Missense |
10/10 |
- |
1 |
7-44184785-C-G |
c.1348G>C |
p.A450P |
Missense |
10/10 |
- |
1 |
7-44184785-C-T |
c.1348G>A |
p.A450T |
Missense |
10/10 |
- |
5 |
7-44184786-CGC-AAA |
c.1345_1347delinsTTT |
p.A449F |
Missense |
10/10 |
- |
1 |
7-44184786-CGC-ACA |
c.1345_1347delinsTGT |
p.A449C |
Missense |
10/10 |
- |
1 |
7-44184786-CGC-ATA |
c.1345_1347delinsTAT |
p.A449Y |
Missense |
10/10 |
- |
1 |
7-44184786-CGC-ATG |
c.1345_1347delinsCAT |
p.A449H |
Missense |
10/10 |
- |
1 |
7-44184786-CGC-GAT |
c.1345_1347delinsATC |
p.A449I |
Missense |
10/10 |
- |
1 |
7-44184786-CGC-GTT |
c.1345_1347delinsAAC |
p.A449N |
Missense |
10/10 |
- |
1 |
7-44184786-CG-GT |
c.1346_1347delinsAC |
p.A449D |
Missense |
10/10 |
- |
1 |
7-44184787-G-A |
c.1346C>T |
p.A449V |
Missense |
10/10 |
- |
4 |
7-44184787-G-C |
c.1346C>G |
p.A449G |
Missense |
10/10 |
- |
2 |
7-44184787-GC-AG |
c.1345_1346delinsCT |
p.A449L |
Missense |
10/10 |
- |
1 |
7-44184787-GC-AT |
c.1345_1346delinsAT |
p.A449M |
Missense |
10/10 |
- |
1 |
7-44184787-GC-CA |
c.1345_1346delinsTG |
p.A449W |
Missense |
10/10 |
- |
1 |
7-44184787-GC-CT |
c.1345_1346delinsAG |
p.A449R |
Missense |
10/10 |
- |
1 |
7-44184787-GC-TG |
c.1345_1346delinsCA |
p.A449Q |
Missense |
10/10 |
- |
1 |
7-44184787-GC-TT |
c.1345_1346delinsAA |
p.A449K |
Missense |
10/10 |
- |
1 |
7-44184787-G-T |
c.1346C>A |
p.A449E |
Missense |
10/10 |
- |
3 |
7-44184788-C-A |
c.1345G>T |
p.A449S |
Missense |
10/10 |
- |
2 |
7-44184788-C-G |
c.1345G>C |
p.A449P |
Missense |
10/10 |
- |
2 |
7-44184788-C-T |
c.1345G>A |
p.A449T |
Missense |
10/10 |
- |
13 |
7-44184785-CCG-C |
c.1346_1347del |
p.A449Gfs*9 |
Frameshift |
10/10 |
- |
1 |
7-44184789-CG-C |
c.1344del |
p.A449Rfs*165 |
Frameshift |
10/10 |
- |
1 |
7-44184789-G-A |
c.1344C>T |
p.G448= |
Synonymous |
10/10 |
- |
1 |
7-44184789-G-C |
c.1344C>G |
p.G448= |
Synonymous |
10/10 |
- |
1 |
7-44184789-GCC-CAT |
c.1342_1344delinsATG |
p.G448M |
Missense |
10/10 |
- |
1 |
7-44184789-GCC-CCA |
c.1342_1344delinsTGG |
p.G448W |
Missense |
10/10 |
- |
1 |
7-44184789-GCC-CTT |
c.1342_1344delinsAAG |
p.G448K |
Missense |
10/10 |
- |
1 |
7-44184789-GC-CT |
c.1343_1344delinsAG |
p.G448E |
Missense |
10/10 |
- |
1 |
7-44184789-GCC-TTG |
c.1342_1344delinsCAA |
p.G448Q |
Missense |
10/10 |
- |
1 |
7-44184789-G-T |
c.1344C>A |
p.G448= |
Synonymous |
10/10 |
- |
1 |
7-44184790-C-A |
c.1343G>T |
p.G448V |
Missense |
10/10 |
- |
6 |
7-44184790-CC-AA |
c.1342_1343delinsTT |
p.G448F |
Missense |
10/10 |
- |
1 |
7-44184790-CC-AG |
c.1342_1343delinsCT |
p.G448L |
Missense |
10/10 |
- |
1 |
7-44184790-CC-AT |
c.1342_1343delinsAT |
p.G448I |
Missense |
10/10 |
- |
1 |
7-44184790-CC-GG |
c.1342_1343inv |
p.G448P |
Missense |
10/10 |
- |
1 |
7-44184790-CC-GT |
c.1342_1343delinsAC |
p.G448T |
Missense |
10/10 |
- |
1 |
7-44184790-CC-TA |
c.1342_1343delinsTA |
p.G448Y |
Missense |
10/10 |
- |
1 |
7-44184790-CC-TG |
c.1342_1343delinsCA |
p.G448H |
Missense |
10/10 |
- |
1 |
7-44184790-CC-TT |
c.1342_1343delinsAA |
p.G448N |
Missense |
10/10 |
- |
1 |
7-44184790-C-G |
c.1343G>C |
p.G448A |
Missense |
10/10 |
- |
1 |
7-44184790-C-T |
c.1343G>A |
p.G448D |
Missense |
10/10 |
- |
1 |
7-44184791-C-A |
c.1342G>T |
p.G448C |
Missense |
10/10 |
- |
1 |
7-44184791-C-G |
c.1342G>C |
p.G448R |
Missense |
10/10 |
- |
1 |
7-44184791-C-T |
c.1342G>A |
p.G448S |
Missense |
10/10 |
- |
1 |
7-44184792-CC-AT |
c.1340_1341delinsAT |
p.R447H |
Missense |
10/10 |
- |
1 |
7-44184792-CCCG-C |
c.1339_1341del |
p.R447del |
InFrameDeletion |
10/10 |
- |
1 |
7-44184792-CCG-AAA |
c.1339_1341delinsTTT |
p.R447F |
Missense |
10/10 |
- |
1 |
7-44184792-CCG-ACA |
c.1339_1341delinsTGT |
p.R447C |
Missense |
10/10 |
- |
1 |
7-44184792-CCG-ATA |
c.1339_1341delinsTAT |
p.R447Y |
Missense |
10/10 |
- |
1 |
7-44184792-CCG-GAT |
c.1339_1341delinsATC |
p.R447I |
Missense |
10/10 |
- |
1 |
7-44184792-CCG-GCT |
c.1339_1341delinsAGC |
p.R447S |
Missense |
10/10 |
- |
1 |
7-44184792-CCG-GTC |
c.1339_1341delinsGAC |
p.R447D |
Missense |
10/10 |
- |
1 |
7-44184792-CCG-GTT |
c.1339_1341delinsAAC |
p.R447N |
Missense |
10/10 |
- |
1 |
7-44184793-C-A |
c.1340G>T |
p.R447L |
Missense |
10/10 |
- |
2 |
7-44184793-C-G |
c.1340G>C |
p.R447P |
Missense |
10/10 |
- |
3 |
7-44184793-CG-AC |
c.1339_1340delinsGT |
p.R447V |
Missense |
10/10 |
- |
1 |
7-44184793-CG-AT |
c.1339_1340delinsAT |
p.R447M |
Missense |
10/10 |
- |
1 |
7-44184793-CG-GC |
c.1339_1340delinsGC |
p.R447A |
Missense |
10/10 |
- |
1 |
7-44184793-CG-GT |
c.1339_1340delinsAC |
p.R447T |
Missense |
10/10 |
- |
1 |
7-44184793-CG-TC |
c.1339_1340delinsGA |
p.R447E |
Missense |
10/10 |
- |
1 |
7-44184793-CG-TT |
c.1339_1340delinsAA |
p.R447K |
Missense |
10/10 |
- |
1 |
7-44184793-C-T |
c.1340G>A |
p.R447Q |
Missense |
10/10 |
- |
15 |
7-44184794-G-A |
c.1339C>T |
p.R447W |
Missense |
10/10 |
- |
1 |
7-44184794-G-C |
c.1339C>G |
p.R447G |
Missense |
10/10 |
- |
5 |
7-44184793-CG-C |
c.1339del |
p.R447Gfs*167 |
Frameshift |
10/10 |
- |
2 |
7-44184795-GCC-CAT |
c.1336_1338delinsATG |
p.G446M |
Missense |
10/10 |
- |
1 |
7-44184795-GCC-CCA |
c.1336_1338delinsTGG |
p.G446W |
Missense |
10/10 |
- |
1 |
7-44184795-GCC-CTT |
c.1336_1338delinsAAG |
p.G446K |
Missense |
10/10 |
- |
1 |
7-44184795-GC-CT |
c.1337_1338delinsAG |
p.G446E |
Missense |
10/10 |
- |
1 |
7-44184795-GCC-TTG |
c.1336_1338delinsCAA |
p.G446Q |
Missense |
10/10 |
- |
1 |
7-44184796-C-A |
c.1337G>T |
p.G446V |
Missense |
10/10 |
- |
3 |
7-44184796-CC-AA |
c.1336_1337delinsTT |
p.G446F |
Missense |
10/10 |
- |
1 |
7-44184796-CC-AG |
c.1336_1337delinsCT |
p.G446L |
Missense |
10/10 |
- |
1 |
7-44184796-CC-AT |
c.1336_1337delinsAT |
p.G446I |
Missense |
10/10 |
- |
2 |
7-44184796-CC-GG |
c.1336_1337inv |
p.G446P |
Missense |
10/10 |
- |
1 |
7-44184796-CC-GT |
c.1336_1337delinsAC |
p.G446T |
Missense |
10/10 |
- |
1 |
7-44184796-CC-TA |
c.1336_1337delinsTA |
p.G446Y |
Missense |
10/10 |
- |
1 |
7-44184796-CC-TG |
c.1336_1337delinsCA |
p.G446H |
Missense |
10/10 |
- |
1 |
7-44184796-CC-TT |
c.1336_1337delinsAA |
p.G446N |
Missense |
10/10 |
- |
1 |
7-44184796-C-G |
c.1337G>C |
p.G446A |
Missense |
10/10 |
- |
2 |
7-44184796-C-T |
c.1337G>A |
p.G446D |
Missense |
10/10 |
- |
2 |
7-44184797-C-A |
c.1336G>T |
p.G446C |
Missense |
10/10 |
- |
3 |
7-44184797-C-G |
c.1336G>C |
p.G446R |
Missense |
10/10 |
- |
5 |
7-44184797-C-T |
c.1336G>A |
p.G446S |
Missense |
10/10 |
- |
3 |
7-44184798-A-C |
c.1335T>G |
p.S445R |
Missense |
10/10 |
- |
2 |
7-44184798-AC-CA |
c.1334_1335delinsTG |
p.S445M |
Missense |
10/10 |
- |
1 |
7-44184798-AC-CT |
c.1334_1335delinsAG |
p.S445K |
Missense |
10/10 |
- |
1 |
7-44184798-ACT-CCA |
c.1333_1335delinsTGG |
p.S445W |
Missense |
10/10 |
- |
1 |
7-44184798-ACT-CTC |
c.1333_1335delinsGAG |
p.S445E |
Missense |
10/10 |
- |
1 |
7-44184798-ACT-TTG |
c.1333_1335delinsCAA |
p.S445Q |
Missense |
10/10 |
- |
1 |
7-44184798-A-T |
c.1335T>A |
p.S445R |
Missense |
10/10 |
- |
2 |
7-44184800-T-G |
c.1333A>C |
p.S445R |
Missense |
10/10 |
- |
2 |
7-44184799-C-A |
c.1334G>T |
p.S445I |
Missense |
10/10 |
- |
1 |
7-44184799-C-G |
c.1334G>C |
p.S445T |
Missense |
10/10 |
- |
3 |
7-44184799-C-T |
c.1334G>A |
p.S445N |
Missense |
10/10 |
- |
1 |
7-44184799-CT-AA |
c.1333_1334delinsTT |
p.S445F |
Missense |
10/10 |
- |
1 |
7-44184799-CT-AC |
c.1333_1334delinsGT |
p.S445V |
Missense |
10/10 |
- |
1 |
7-44184799-CT-AG |
c.1333_1334inv |
p.S445L |
Missense |
10/10 |
- |
5 |
7-44184799-CT-GC |
c.1333_1334delinsGC |
p.S445A |
Missense |
10/10 |
- |
1 |
7-44184799-CT-GG |
c.1333_1334delinsCC |
p.S445P |
Missense |
10/10 |
- |
1 |
7-44184799-CT-TA |
c.1333_1334delinsTA |
p.S445Y |
Missense |
10/10 |
- |
1 |
7-44184799-CT-TC |
c.1333_1334delinsGA |
p.S445D |
Missense |
10/10 |
- |
1 |
7-44184799-CT-TG |
c.1333_1334delinsCA |
p.S445H |
Missense |
10/10 |
- |
1 |
7-44184800-T-A |
c.1333A>T |
p.S445C |
Missense |
10/10 |
- |
2 |
7-44184800-T-C |
c.1333A>G |
p.S445G |
Missense |
10/10 |
- |
1 |
7-44184801-GCC-CAT |
c.1330_1332delinsATG |
p.G444M |
Missense |
10/10 |
- |
1 |
7-44184801-GCC-CCA |
c.1330_1332delinsTGG |
p.G444W |
Missense |
10/10 |
- |
1 |
7-44184801-GCC-CTT |
c.1330_1332delinsAAG |
p.G444K |
Missense |
10/10 |
- |
1 |
7-44184801-GC-CT |
c.1331_1332delinsAG |
p.G444E |
Missense |
10/10 |
- |
1 |
7-44184801-GCC-TTG |
c.1330_1332delinsCAA |
p.G444Q |
Missense |
10/10 |
- |
1 |
7-44184801-TG-T |
c.1332del |
p.S445Vfs*169 |
Frameshift |
10/10 |
- |
1 |
7-44184802-C-A |
c.1331G>T |
p.G444V |
Missense |
10/10 |
- |
1 |
7-44184802-CC-AA |
c.1330_1331delinsTT |
p.G444F |
Missense |
10/10 |
- |
1 |
7-44184802-CC-AG |
c.1330_1331delinsCT |
p.G444L |
Missense |
10/10 |
- |
1 |
7-44184802-CC-AT |
c.1330_1331delinsAT |
p.G444I |
Missense |
10/10 |
- |
1 |
7-44184802-CC-GG |
c.1330_1331inv |
p.G444P |
Missense |
10/10 |
- |
1 |
7-44184802-CC-GT |
c.1330_1331delinsAC |
p.G444T |
Missense |
10/10 |
- |
1 |
7-44184802-CC-TA |
c.1330_1331delinsTA |
p.G444Y |
Missense |
10/10 |
- |
1 |
7-44184802-CC-TG |
c.1330_1331delinsCA |
p.G444H |
Missense |
10/10 |
- |
1 |
7-44184802-CC-TT |
c.1330_1331delinsAA |
p.G444N |
Missense |
10/10 |
- |
1 |
7-44184802-C-G |
c.1331G>C |
p.G444A |
Missense |
10/10 |
- |
1 |
7-44184802-C-T |
c.1331G>A |
p.G444D |
Missense |
10/10 |
- |
1 |
7-44184803-C-A |
c.1330G>T |
p.G444C |
Missense |
10/10 |
- |
1 |
7-44184803-C-G |
c.1330G>C |
p.G444R |
Missense |
10/10 |
- |
1 |
7-44184803-C-T |
c.1330G>A |
p.G444S |
Missense |
10/10 |
- |
2 |
7-44184801-G-GC |
c.1331dup |
p.S445Qfs*14 |
Frameshift |
10/10 |
- |
1 |
7-44184804-C-A |
c.1329G>T |
p.E443D |
Missense |
10/10 |
- |
1 |
7-44184804-C-G |
c.1329G>C |
p.E443D |
Missense |
10/10 |
- |
1 |
7-44184804-C-T |
c.1329G>A |
p.E443= |
Synonymous |
10/10 |
- |
3 |
7-44184804-CTC-AAA |
c.1327_1329delinsTTT |
p.E443F |
Missense |
10/10 |
- |
1 |
7-44184804-CTC-ACA |
c.1327_1329delinsTGT |
p.E443C |
Missense |
10/10 |
- |
1 |
7-44184804-CTC-ATA |
c.1327_1329delinsTAT |
p.E443Y |
Missense |
10/10 |
- |
1 |
7-44184804-CTC-ATG |
c.1327_1329delinsCAT |
p.E443H |
Missense |
10/10 |
- |
1 |
7-44184804-CTC-GAT |
c.1327_1329delinsATC |
p.E443I |
Missense |
10/10 |
- |
1 |
7-44184804-CTC-GTT |
c.1327_1329delinsAAC |
p.E443N |
Missense |
10/10 |
- |
1 |
7-44184805-T-A |
c.1328A>T |
p.E443V |
Missense |
10/10 |
- |
1 |
7-44184805-T-C |
c.1328A>G |
p.E443G |
Missense |
10/10 |
- |
1 |
7-44184805-TC-AG |
c.1327_1328delinsCT |
p.E443L |
Missense |
10/10 |
- |
1 |
7-44184805-TC-AT |
c.1327_1328delinsAT |
p.E443M |
Missense |
10/10 |
- |
1 |
7-44184805-TC-CA |
c.1327_1328delinsTG |
p.E443W |
Missense |
10/10 |
- |
1 |
7-44184805-TC-CT |
c.1327_1328delinsAG |
p.E443R |
Missense |
10/10 |
- |
1 |
7-44184805-TC-GA |
c.1327_1328inv |
p.E443S |
Missense |
10/10 |
- |
1 |
7-44184805-TC-GG |
c.1327_1328delinsCC |
p.E443P |
Missense |
10/10 |
- |
1 |
7-44184805-TC-GT |
c.1327_1328delinsAC |
p.E443T |
Missense |
10/10 |
- |
1 |
7-44184805-T-G |
c.1328A>C |
p.E443A |
Missense |
10/10 |
- |
1 |
7-44184806-C-G |
c.1327G>C |
p.E443Q |
Missense |
10/10 |
- |
1 |
7-44184806-C-T |
c.1327G>A |
p.E443K |
Missense |
10/10 |
- |
4 |
7-44184807-C-A |
c.1326G>T |
p.E442D |
Missense |
10/10 |
- |
2 |
7-44184807-C-G |
c.1326G>C |
p.E442D |
Missense |
10/10 |
- |
2 |
7-44184807-C-T |
c.1326G>A |
p.E442= |
Synonymous |
10/10 |
- |
3 |
7-44184807-CTC-AAA |
c.1324_1326delinsTTT |
p.E442F |
Missense |
10/10 |
- |
1 |
7-44184807-CTC-ACA |
c.1324_1326delinsTGT |
p.E442C |
Missense |
10/10 |
- |
1 |
7-44184807-CTC-ATA |
c.1324_1326delinsTAT |
p.E442Y |
Missense |
10/10 |
- |
1 |
7-44184807-CTC-ATG |
c.1324_1326delinsCAT |
p.E442H |
Missense |
10/10 |
- |
1 |
7-44184807-CTC-GAT |
c.1324_1326delinsATC |
p.E442I |
Missense |
10/10 |
- |
1 |
7-44184807-CTC-GTT |
c.1324_1326delinsAAC |
p.E442N |
Missense |
10/10 |
- |
1 |
7-44184808-T-A |
c.1325A>T |
p.E442V |
Missense |
10/10 |
- |
1 |
7-44184808-T-C |
c.1325A>G |
p.E442G |
Missense |
10/10 |
- |
1 |
7-44184808-TC-AG |
c.1324_1325delinsCT |
p.E442L |
Missense |
10/10 |
- |
1 |
7-44184808-TC-AT |
c.1324_1325delinsAT |
p.E442M |
Missense |
10/10 |
- |
1 |
7-44184808-TC-CA |
c.1324_1325delinsTG |
p.E442W |
Missense |
10/10 |
- |
1 |
7-44184808-TC-CT |
c.1324_1325delinsAG |
p.E442R |
Missense |
10/10 |
- |
1 |
7-44184808-TC-GA |
c.1324_1325inv |
p.E442S |
Missense |
10/10 |
- |
1 |
7-44184808-TC-GG |
c.1324_1325delinsCC |
p.E442P |
Missense |
10/10 |
- |
1 |
7-44184808-TC-GT |
c.1324_1325delinsAC |
p.E442T |
Missense |
10/10 |
- |
1 |
7-44184808-T-G |
c.1325A>C |
p.E442A |
Missense |
10/10 |
- |
1 |
7-44184809-C-A |
c.1324G>T |
p.E442* |
Nonsense |
10/10 |
- |
2 |
7-44184809-C-G |
c.1324G>C |
p.E442Q |
Missense |
10/10 |
- |
1 |
7-44184809-C-T |
c.1324G>A |
p.E442K |
Missense |
10/10 |
- |
14 |
7-44184810-CG-AA |
c.1322_1323delinsTT |
p.S441F |
Missense |
10/10 |
- |
1 |
7-44184810-CGA-ATG |
c.1321_1323delinsCAT |
p.S441H |
Missense |
10/10 |
- |
1 |
7-44184810-CG-AC |
c.1322_1323delinsGT |
p.S441C |
Missense |
10/10 |
- |
1 |
7-44184810-CGA-GAT |
c.1321_1323delinsATC |
p.S441I |
Missense |
10/10 |
- |
1 |
7-44184810-CGA-GTC |
c.1321_1323delinsGAC |
p.S441D |
Missense |
10/10 |
- |
1 |
7-44184810-CGA-GTT |
c.1321_1323delinsAAC |
p.S441N |
Missense |
10/10 |
- |
2 |
7-44184810-CG-AT |
c.1322_1323delinsAT |
p.S441Y |
Missense |
10/10 |
- |
1 |
7-44184810-C-T |
c.1323G>A |
p.S441= |
Synonymous |
10/10 |
- |
2 |
7-44184811-G-A |
c.1322C>T |
p.S441L |
Missense |
10/10 |
- |
7 |
7-44184811-GA-AC |
c.1321_1322delinsGT |
p.S441V |
Missense |
10/10 |
- |
1 |
7-44184811-GA-AT |
c.1321_1322delinsAT |
p.S441M |
Missense |
10/10 |
- |
1 |
7-44184811-GA-CC |
c.1321_1322delinsGG |
p.S441G |
Missense |
10/10 |
- |
1 |
7-44184811-GA-CT |
c.1321_1322delinsAG |
p.S441R |
Missense |
10/10 |
- |
1 |
7-44184811-GA-TC |
c.1321_1322inv |
p.S441E |
Missense |
10/10 |
- |
1 |
7-44184811-GA-TG |
c.1321_1322delinsCA |
p.S441Q |
Missense |
10/10 |
- |
1 |
7-44184811-GA-TT |
c.1321_1322delinsAA |
p.S441K |
Missense |
10/10 |
- |
1 |
7-44184811-G-C |
c.1322C>G |
p.S441W |
Missense |
10/10 |
- |
4 |
7-44184812-A-C |
c.1321T>G |
p.S441A |
Missense |
10/10 |
- |
1 |
7-44184812-A-G |
c.1321T>C |
p.S441P |
Missense |
10/10 |
- |
1 |
7-44184812-A-T |
c.1321T>A |
p.S441T |
Missense |
10/10 |
- |
1 |
7-44184813-C-A |
c.1320G>T |
p.E440D |
Missense |
10/10 |
- |
1 |
7-44184813-C-G |
c.1320G>C |
p.E440D |
Missense |
10/10 |
- |
1 |
7-44184813-CTC-AAA |
c.1318_1320delinsTTT |
p.E440F |
Missense |
10/10 |
- |
1 |
7-44184813-CTC-ACA |
c.1318_1320delinsTGT |
p.E440C |
Missense |
10/10 |
- |
1 |
7-44184813-CTC-ATA |
c.1318_1320delinsTAT |
p.E440Y |
Missense |
10/10 |
- |
1 |
7-44184813-CTC-ATG |
c.1318_1320delinsCAT |
p.E440H |
Missense |
10/10 |
- |
1 |
7-44184813-CTC-GAT |
c.1318_1320delinsATC |
p.E440I |
Missense |
10/10 |
- |
1 |
7-44184813-CTC-GTT |
c.1318_1320delinsAAC |
p.E440N |
Missense |
10/10 |
- |
1 |
7-44184814-T-A |
c.1319A>T |
p.E440V |
Missense |
10/10 |
- |
1 |
7-44184814-T-C |
c.1319A>G |
p.E440G |
Missense |
10/10 |
- |
3 |
7-44184814-TC-AG |
c.1318_1319delinsCT |
p.E440L |
Missense |
10/10 |
- |
1 |
7-44184814-TC-AT |
c.1318_1319delinsAT |
p.E440M |
Missense |
10/10 |
- |
1 |
7-44184814-TC-CA |
c.1318_1319delinsTG |
p.E440W |
Missense |
10/10 |
- |
1 |
7-44184814-TC-CT |
c.1318_1319delinsAG |
p.E440R |
Missense |
10/10 |
- |
1 |
7-44184814-TC-GA |
c.1318_1319inv |
p.E440S |
Missense |
10/10 |
- |
1 |
7-44184814-TC-GG |
c.1318_1319delinsCC |
p.E440P |
Missense |
10/10 |
- |
1 |
7-44184814-TC-GT |
c.1318_1319delinsAC |
p.E440T |
Missense |
10/10 |
- |
1 |
7-44184814-T-G |
c.1319A>C |
p.E440A |
Missense |
10/10 |
- |
1 |
7-44184815-C-G |
c.1318G>C |
p.E440Q |
Missense |
10/10 |
- |
1 |
7-44184815-C-T |
c.1318G>A |
p.E440K |
Missense |
10/10 |
- |
1 |
7-44184816-GA-CC |
c.1316_1317delinsGG |
p.I439R |
Missense |
10/10 |
- |
1 |
7-44184816-GA-CT |
c.1316_1317delinsAG |
p.I439K |
Missense |
10/10 |
- |
1 |
7-44184816-GAT-CCA |
c.1315_1317delinsTGG |
p.I439W |
Missense |
10/10 |
- |
1 |
7-44184816-GAT-CTC |
c.1315_1317delinsGAG |
p.I439E |
Missense |
10/10 |
- |
1 |
7-44184816-GAT-TTG |
c.1315_1317delinsCAA |
p.I439Q |
Missense |
10/10 |
- |
1 |
7-44184816-G-C |
c.1317C>G |
p.I439M |
Missense |
10/10 |
- |
1 |
7-44184817-A-C |
c.1316T>G |
p.I439S |
Missense |
10/10 |
- |
1 |
7-44184817-A-G |
c.1316T>C |
p.I439T |
Missense |
10/10 |
- |
1 |
7-44184817-A-T |
c.1316T>A |
p.I439N |
Missense |
10/10 |
- |
1 |
7-44184817-AT-CA |
c.1315_1316delinsTG |
p.I439C |
Missense |
10/10 |
- |
1 |
7-44184817-AT-CC |
c.1315_1316delinsGG |
p.I439G |
Missense |
10/10 |
- |
1 |
7-44184817-AT-GC |
c.1315_1316delinsGC |
p.I439A |
Missense |
10/10 |
- |
1 |
7-44184817-AT-GG |
c.1315_1316delinsCC |
p.I439P |
Missense |
10/10 |
- |
1 |
7-44184817-AT-TA |
c.1315_1316delinsTA |
p.I439Y |
Missense |
10/10 |
- |
1 |
7-44184817-AT-TC |
c.1315_1316delinsGA |
p.I439D |
Missense |
10/10 |
- |
1 |
7-44184817-AT-TG |
c.1315_1316delinsCA |
p.I439H |
Missense |
10/10 |
- |
1 |
7-44184818-T-A |
c.1315A>T |
p.I439F |
Missense |
10/10 |
- |
1 |
7-44184818-T-C |
c.1315A>G |
p.I439V |
Missense |
10/10 |
- |
1 |
7-44184818-T-G |
c.1315A>C |
p.I439L |
Missense |
10/10 |
- |
1 |
7-44184819-GAA-CAT |
c.1312_1314delinsATG |
p.F438M |
Missense |
10/10 |
- |
1 |
7-44184819-GAA-CTC |
c.1312_1314delinsGAG |
p.F438E |
Missense |
10/10 |
- |
1 |
7-44184819-GAA-CTT |
c.1312_1314delinsAAG |
p.F438K |
Missense |
10/10 |
- |
1 |
7-44184819-GAA-TTG |
c.1312_1314delinsCAA |
p.F438Q |
Missense |
10/10 |
- |
1 |
7-44184819-GA-CC |
c.1313_1314delinsGG |
p.F438W |
Missense |
10/10 |
- |
1 |
7-44184818-TGAA-T |
c.1312_1314del |
p.F438del |
InFrameDeletion |
10/10 |
- |
1 |
7-44184820-AA-CC |
c.1312_1313delinsGG |
p.F438G |
Missense |
10/10 |
- |
1 |
7-44184820-AA-CG |
c.1312_1313delinsCG |
p.F438R |
Missense |
10/10 |
- |
1 |
7-44184820-AA-GC |
c.1312_1313delinsGC |
p.F438A |
Missense |
10/10 |
- |
1 |
7-44184820-AA-GG |
c.1312_1313delinsCC |
p.F438P |
Missense |
10/10 |
- |
1 |
7-44184820-AA-GT |
c.1312_1313delinsAC |
p.F438T |
Missense |
10/10 |
- |
1 |
7-44184820-AA-TC |
c.1312_1313delinsGA |
p.F438D |
Missense |
10/10 |
- |
1 |
7-44184820-AA-TG |
c.1312_1313delinsCA |
p.F438H |
Missense |
10/10 |
- |
1 |
7-44184820-AA-TT |
c.1312_1313inv |
p.F438N |
Missense |
10/10 |
- |
1 |
7-44184820-A-C |
c.1313T>G |
p.F438C |
Missense |
10/10 |
- |
1 |
7-44184820-A-G |
c.1313T>C |
p.F438S |
Missense |
10/10 |
- |
2 |
7-44184820-A-T |
c.1313T>A |
p.F438Y |
Missense |
10/10 |
- |
3 |
7-44184820-GAA-G |
c.1312_1313del |
p.F438Hfs*20 |
Frameshift |
10/10 |
- |
1 |
7-44184819-G-C |
c.1314C>G |
p.F438L |
Missense |
10/10 |
- |
1 |
7-44184819-G-T |
c.1314C>A |
p.F438L |
Missense |
10/10 |
- |
1 |
7-44184821-A-C |
c.1312T>G |
p.F438V |
Missense |
10/10 |
- |
1 |
7-44184821-A-G |
c.1312T>C |
p.F438L |
Missense |
10/10 |
- |
1 |
7-44184821-A-T |
c.1312T>A |
p.F438I |
Missense |
10/10 |
- |
1 |
7-44184822-GG-CA |
c.1310_1311delinsTG |
p.T437M |
Missense |
10/10 |
- |
1 |
7-44184822-GG-CC |
c.1310_1311inv |
p.T437R |
Missense |
10/10 |
- |
1 |
7-44184822-GG-CT |
c.1310_1311delinsAG |
p.T437K |
Missense |
10/10 |
- |
1 |
7-44184822-GGT-CCA |
c.1309_1311delinsTGG |
p.T437W |
Missense |
10/10 |
- |
1 |
7-44184822-GGT-CTC |
c.1309_1311delinsGAG |
p.T437E |
Missense |
10/10 |
- |
1 |
7-44184822-GGT-TTG |
c.1309_1311delinsCAA |
p.T437Q |
Missense |
10/10 |
- |
1 |
7-44184820-AAGGTGATCTCGC-A |
c.1301_1312del |
p.C434_T437del |
InFrameDeletion |
10/10 |
- |
1 |
7-44184823-G-A |
c.1310C>T |
p.T437I |
Missense |
10/10 |
- |
3 |
7-44184823-G-C |
c.1310C>G |
p.T437S |
Missense |
10/10 |
- |
2 |
7-44184823-G-T |
c.1310C>A |
p.T437N |
Missense |
10/10 |
- |
1 |
7-44184823-GT-AA |
c.1309_1310delinsTT |
p.T437F |
Missense |
10/10 |
- |
1 |
7-44184823-GT-AC |
c.1309_1310inv |
p.T437V |
Missense |
10/10 |
- |
1 |
7-44184823-GT-AG |
c.1309_1310delinsCT |
p.T437L |
Missense |
10/10 |
- |
1 |
7-44184823-GT-CA |
c.1309_1310delinsTG |
p.T437C |
Missense |
10/10 |
- |
1 |
7-44184823-GT-CC |
c.1309_1310delinsGG |
p.T437G |
Missense |
10/10 |
- |
1 |
7-44184823-GT-TA |
c.1309_1310delinsTA |
p.T437Y |
Missense |
10/10 |
- |
1 |
7-44184823-GT-TC |
c.1309_1310delinsGA |
p.T437D |
Missense |
10/10 |
- |
1 |
7-44184823-GT-TG |
c.1309_1310delinsCA |
p.T437H |
Missense |
10/10 |
- |
1 |
7-44184824-T-A |
c.1309A>T |
p.T437S |
Missense |
10/10 |
- |
2 |
7-44184822-GGT-G |
c.1309_1310del |
p.T437Lfs*21 |
Frameshift |
10/10 |
- |
1 |
7-44184824-T-C |
c.1309A>G |
p.T437A |
Missense |
10/10 |
- |
1 |
7-44184824-T-G |
c.1309A>C |
p.T437P |
Missense |
10/10 |
- |
1 |
7-44184825-GA-CC |
c.1307_1308delinsGG |
p.I436R |
Missense |
10/10 |
- |
1 |
7-44184825-GA-CT |
c.1307_1308delinsAG |
p.I436K |
Missense |
10/10 |
- |
1 |
7-44184825-GAT-CCA |
c.1306_1308delinsTGG |
p.I436W |
Missense |
10/10 |
- |
1 |
7-44184825-GAT-CTC |
c.1306_1308delinsGAG |
p.I436E |
Missense |
10/10 |
- |
1 |
7-44184825-GAT-TTG |
c.1306_1308delinsCAA |
p.I436Q |
Missense |
10/10 |
- |
1 |
7-44184825-G-C |
c.1308C>G |
p.I436M |
Missense |
10/10 |
- |
1 |
7-44184823-GTGATCTCGCAGC-G |
c.1298_1309del |
p.S433_I436del |
InFrameDeletion |
10/10 |
- |
1 |
7-44184826-A-C |
c.1307T>G |
p.I436S |
Missense |
10/10 |
- |
1 |
7-44184826-A-G |
c.1307T>C |
p.I436T |
Missense |
10/10 |
- |
1 |
7-44184826-A-T |
c.1307T>A |
p.I436N |
Missense |
10/10 |
- |
7 |
7-44184826-AT-CA |
c.1306_1307delinsTG |
p.I436C |
Missense |
10/10 |
- |
1 |
7-44184826-AT-CC |
c.1306_1307delinsGG |
p.I436G |
Missense |
10/10 |
- |
1 |
7-44184826-AT-GC |
c.1306_1307delinsGC |
p.I436A |
Missense |
10/10 |
- |
1 |
7-44184826-AT-GG |
c.1306_1307delinsCC |
p.I436P |
Missense |
10/10 |
- |
1 |
7-44184826-AT-TA |
c.1306_1307delinsTA |
p.I436Y |
Missense |
10/10 |
- |
1 |
7-44184826-AT-TC |
c.1306_1307delinsGA |
p.I436D |
Missense |
10/10 |
- |
1 |
7-44184826-AT-TG |
c.1306_1307delinsCA |
p.I436H |
Missense |
10/10 |
- |
1 |
7-44184826-GAT-G |
c.1306_1307del |
p.I436Hfs*22 |
Frameshift |
10/10 |
- |
1 |
7-44184827-ATCTCGCAGCTGG-A |
c.1295_1306del |
p.P432_I436delinsL |
MultiAAMissense |
10/10 |
- |
1 |
7-44184827-T-A |
c.1306A>T |
p.I436F |
Missense |
10/10 |
- |
3 |
7-44184827-T-C |
c.1306A>G |
p.I436V |
Missense |
10/10 |
- |
2 |
7-44184827-T-G |
c.1306A>C |
p.I436L |
Missense |
10/10 |
- |
1 |
7-44184827-T-TC |
c.1305dup |
p.I436Dfs*23 |
Frameshift |
10/10 |
- |
1 |
7-44184828-C-A |
c.1305G>T |
p.E435D |
Missense |
10/10 |
- |
1 |
7-44184828-C-G |
c.1305G>C |
p.E435D |
Missense |
10/10 |
- |
3 |
7-44184828-CTC-AAA |
c.1303_1305delinsTTT |
p.E435F |
Missense |
10/10 |
- |
1 |
7-44184828-CTC-ACA |
c.1303_1305delinsTGT |
p.E435C |
Missense |
10/10 |
- |
1 |
7-44184828-CTC-ATA |
c.1303_1305delinsTAT |
p.E435Y |
Missense |
10/10 |
- |
1 |
7-44184828-CTC-ATG |
c.1303_1305delinsCAT |
p.E435H |
Missense |
10/10 |
- |
1 |
7-44184828-CTC-GAT |
c.1303_1305delinsATC |
p.E435I |
Missense |
10/10 |
- |
1 |
7-44184828-CTC-GTT |
c.1303_1305delinsAAC |
p.E435N |
Missense |
10/10 |
- |
1 |
7-44184829-T-A |
c.1304A>T |
p.E435V |
Missense |
10/10 |
- |
1 |
7-44184829-T-C |
c.1304A>G |
p.E435G |
Missense |
10/10 |
- |
2 |
7-44184829-TC-AG |
c.1303_1304delinsCT |
p.E435L |
Missense |
10/10 |
- |
1 |
7-44184829-TC-AT |
c.1303_1304delinsAT |
p.E435M |
Missense |
10/10 |
- |
1 |
7-44184829-TC-CA |
c.1303_1304delinsTG |
p.E435W |
Missense |
10/10 |
- |
1 |
7-44184829-TC-CT |
c.1303_1304delinsAG |
p.E435R |
Missense |
10/10 |
- |
1 |
7-44184829-TC-GA |
c.1303_1304inv |
p.E435S |
Missense |
10/10 |
- |
1 |
7-44184829-TC-GG |
c.1303_1304delinsCC |
p.E435P |
Missense |
10/10 |
- |
1 |
7-44184829-TC-GT |
c.1303_1304delinsAC |
p.E435T |
Missense |
10/10 |
- |
1 |
7-44184829-T-G |
c.1304A>C |
p.E435A |
Missense |
10/10 |
- |
1 |
7-44184830-C-G |
c.1303G>C |
p.E435Q |
Missense |
10/10 |
- |
1 |
7-44184830-C-T |
c.1303G>A |
p.E435K |
Missense |
10/10 |
- |
2 |
7-44184831-G-A |
c.1302C>T |
p.C434= |
Synonymous |
10/10 |
- |
2 |
7-44184831-G-C |
c.1302C>G |
p.C434W |
Missense |
10/10 |
- |
1 |
7-44184831-GCA-CAT |
c.1300_1302delinsATG |
p.C434M |
Missense |
10/10 |
- |
1 |
7-44184831-GCA-CTC |
c.1300_1302delinsGAG |
p.C434E |
Missense |
10/10 |
- |
1 |
7-44184831-GCA-CTT |
c.1300_1302delinsAAG |
p.C434K |
Missense |
10/10 |
- |
1 |
7-44184831-GCA-TTG |
c.1300_1302delinsCAA |
p.C434Q |
Missense |
10/10 |
- |
1 |
7-44184831-G-T |
c.1302C>A |
p.C434* |
Nonsense |
10/10 |
- |
2 |
7-44184832-C-A |
c.1301G>T |
p.C434F |
Missense |
10/10 |
- |
1 |
7-44184832-CA-AC |
c.1300_1301delinsGT |
p.C434V |
Missense |
10/10 |
- |
1 |
7-44184832-CA-AG |
c.1300_1301delinsCT |
p.C434L |
Missense |
10/10 |
- |
1 |
7-44184832-CA-AT |
c.1300_1301delinsAT |
p.C434I |
Missense |
10/10 |
- |
1 |
7-44184832-CA-GC |
c.1300_1301delinsGC |
p.C434A |
Missense |
10/10 |
- |
1 |
7-44184832-CA-GG |
c.1300_1301delinsCC |
p.C434P |
Missense |
10/10 |
- |
1 |
7-44184832-CA-GT |
c.1300_1301delinsAC |
p.C434T |
Missense |
10/10 |
- |
2 |
7-44184832-CA-TC |
c.1300_1301delinsGA |
p.C434D |
Missense |
10/10 |
- |
1 |
7-44184832-CA-TG |
c.1300_1301inv |
p.C434H |
Missense |
10/10 |
- |
1 |
7-44184832-CA-TT |
c.1300_1301delinsAA |
p.C434N |
Missense |
10/10 |
- |
1 |
7-44184832-C-T |
c.1301G>A |
p.C434Y |
Missense |
10/10 |
- |
4 |
7-44184832-C-G |
c.1301G>C |
p.C434S |
Missense |
10/10 |
- |
1 |
7-44184833-A-C |
c.1300T>G |
p.C434G |
Missense |
10/10 |
- |
2 |
7-44184833-A-G |
c.1300T>C |
p.C434R |
Missense |
10/10 |
- |
1 |
7-44184833-A-T |
c.1300T>A |
p.C434S |
Missense |
10/10 |
- |
1 |
7-44184834-G-A |
c.1299C>T |
p.S433= |
Synonymous |
10/10 |
- |
1 |
7-44184834-G-C |
c.1299C>G |
p.S433R |
Missense |
10/10 |
- |
1 |
7-44184834-GC-CA |
c.1298_1299delinsTG |
p.S433M |
Missense |
10/10 |
- |
1 |
7-44184834-GC-CT |
c.1298_1299delinsAG |
p.S433K |
Missense |
10/10 |
- |
1 |
7-44184834-GCT-CCA |
c.1297_1299delinsTGG |
p.S433W |
Missense |
10/10 |
- |
1 |
7-44184834-GCT-CTC |
c.1297_1299delinsGAG |
p.S433E |
Missense |
10/10 |
- |
1 |
7-44184834-GCT-TTG |
c.1297_1299delinsCAA |
p.S433Q |
Missense |
10/10 |
- |
1 |
7-44184834-G-T |
c.1299C>A |
p.S433R |
Missense |
10/10 |
- |
1 |
7-44184836-T-G |
c.1297A>C |
p.S433R |
Missense |
10/10 |
- |
1 |
7-44184835-C-A |
c.1298G>T |
p.S433I |
Missense |
10/10 |
- |
1 |
7-44184835-C-G |
c.1298G>C |
p.S433T |
Missense |
10/10 |
- |
1 |
7-44184835-C-T |
c.1298G>A |
p.S433N |
Missense |
10/10 |
- |
2 |
7-44184835-CT-AA |
c.1297_1298delinsTT |
p.S433F |
Missense |
10/10 |
- |
1 |
7-44184835-CT-AC |
c.1297_1298delinsGT |
p.S433V |
Missense |
10/10 |
- |
1 |
7-44184835-CT-AG |
c.1297_1298inv |
p.S433L |
Missense |
10/10 |
- |
1 |
7-44184835-CT-GC |
c.1297_1298delinsGC |
p.S433A |
Missense |
10/10 |
- |
1 |
7-44184835-CT-GG |
c.1297_1298delinsCC |
p.S433P |
Missense |
10/10 |
- |
1 |
7-44184835-CT-TA |
c.1297_1298delinsTA |
p.S433Y |
Missense |
10/10 |
- |
1 |
7-44184835-CT-TC |
c.1297_1298delinsGA |
p.S433D |
Missense |
10/10 |
- |
1 |
7-44184835-CT-TG |
c.1297_1298delinsCA |
p.S433H |
Missense |
10/10 |
- |
1 |
7-44184836-T-A |
c.1297A>T |
p.S433C |
Missense |
10/10 |
- |
2 |
7-44184836-T-C |
c.1297A>G |
p.S433G |
Missense |
10/10 |
- |
1 |
7-44184837-GGG-CAT |
c.1294_1296delinsATG |
p.P432M |
Missense |
10/10 |
- |
1 |
7-44184837-GGG-CCA |
c.1294_1296delinsTGG |
p.P432W |
Missense |
10/10 |
- |
1 |
7-44184837-GGG-CTC |
c.1294_1296delinsGAG |
p.P432E |
Missense |
10/10 |
- |
1 |
7-44184837-GGG-CTT |
c.1294_1296delinsAAG |
p.P432K |
Missense |
10/10 |
- |
1 |
7-44184837-GG-TT |
c.1295_1296delinsAA |
p.P432Q |
Missense |
10/10 |
- |
1 |
7-44184838-G-A |
c.1295C>T |
p.P432L |
Missense |
10/10 |
- |
1 |
7-44184838-G-C |
c.1295C>G |
p.P432R |
Missense |
10/10 |
- |
3 |
7-44184838-GG-AA |
c.1294_1295delinsTT |
p.P432F |
Missense |
10/10 |
- |
1 |
7-44184838-GG-AC |
c.1294_1295delinsGT |
p.P432V |
Missense |
10/10 |
- |
1 |
7-44184838-GG-AT |
c.1294_1295delinsAT |
p.P432I |
Missense |
10/10 |
- |
1 |
7-44184838-GG-CA |
c.1294_1295delinsTG |
p.P432C |
Missense |
10/10 |
- |
1 |
7-44184838-GG-CC |
c.1294_1295inv |
p.P432G |
Missense |
10/10 |
- |
1 |
7-44184838-GG-TA |
c.1294_1295delinsTA |
p.P432Y |
Missense |
10/10 |
- |
1 |
7-44184838-GG-TC |
c.1294_1295delinsGA |
p.P432D |
Missense |
10/10 |
- |
1 |
7-44184838-GG-TT |
c.1294_1295delinsAA |
p.P432N |
Missense |
10/10 |
- |
1 |
7-44184838-G-T |
c.1295C>A |
p.P432H |
Missense |
10/10 |
- |
1 |
7-44184839-G-A |
c.1294C>T |
p.P432S |
Missense |
10/10 |
- |
1 |
7-44184839-G-C |
c.1294C>G |
p.P432A |
Missense |
10/10 |
- |
1 |
7-44184839-G-T |
c.1294C>A |
p.P432T |
Missense |
10/10 |
- |
1 |
7-44184840-CG-GA |
c.1292_1293delinsTC |
p.T431I |
Missense |
10/10 |
- |
1 |
7-44184840-CG-GT |
c.1292_1293delinsAC |
p.T431N |
Missense |
10/10 |
- |
2 |
7-44184840-CGT-AAA |
c.1291_1293delinsTTT |
p.T431F |
Missense |
10/10 |
- |
1 |
7-44184840-CGT-ACA |
c.1291_1293delinsTGT |
p.T431C |
Missense |
10/10 |
- |
1 |
7-44184840-CGT-ATA |
c.1291_1293delinsTAT |
p.T431Y |
Missense |
10/10 |
- |
1 |
7-44184840-CGT-ATG |
c.1291_1293delinsCAT |
p.T431H |
Missense |
10/10 |
- |
1 |
7-44184840-CGT-GTC |
c.1291_1293delinsGAC |
p.T431D |
Missense |
10/10 |
- |
1 |
7-44184838-GGCGTCA-G |
c.1289_1294del |
p.L430_T431del |
InFrameDeletion |
10/10 |
- |
2 |
7-44184841-G-A |
c.1292C>T |
p.T431M |
Missense |
10/10 |
- |
2 |
7-44184841-G-C |
c.1292C>G |
p.T431R |
Missense |
10/10 |
- |
1 |
7-44184841-G-T |
c.1292C>A |
p.T431K |
Missense |
10/10 |
- |
2 |
7-44184841-GT-AC |
c.1291_1292inv |
p.T431V |
Missense |
10/10 |
- |
1 |
7-44184841-GT-AG |
c.1291_1292delinsCT |
p.T431L |
Missense |
10/10 |
- |
1 |
7-44184841-GT-CA |
c.1291_1292delinsTG |
p.T431W |
Missense |
10/10 |
- |
1 |
7-44184841-GT-CC |
c.1291_1292delinsGG |
p.T431G |
Missense |
10/10 |
- |
1 |
7-44184841-GT-TC |
c.1291_1292delinsGA |
p.T431E |
Missense |
10/10 |
- |
1 |
7-44184841-GT-TG |
c.1291_1292delinsCA |
p.T431Q |
Missense |
10/10 |
- |
1 |
7-44184842-T-A |
c.1291A>T |
p.T431S |
Missense |
10/10 |
- |
1 |
7-44184842-T-C |
c.1291A>G |
p.T431A |
Missense |
10/10 |
- |
6 |
7-44184842-T-G |
c.1291A>C |
p.T431P |
Missense |
10/10 |
- |
1 |
7-44184843-CA-AT |
c.1289_1290delinsAT |
p.L430H |
Missense |
10/10 |
- |
1 |
7-44184843-CAG-AAA |
c.1288_1290delinsTTT |
p.L430F |
Missense |
10/10 |
- |
1 |
7-44184843-CAG-ACA |
c.1288_1290delinsTGT |
p.L430C |
Missense |
10/10 |
- |
1 |
7-44184843-CAG-ATA |
c.1288_1290delinsTAT |
p.L430Y |
Missense |
10/10 |
- |
1 |
7-44184843-CAG-GAT |
c.1288_1290delinsATC |
p.L430I |
Missense |
10/10 |
- |
1 |
7-44184843-CAG-GTC |
c.1288_1290delinsGAC |
p.L430D |
Missense |
10/10 |
- |
1 |
7-44184843-CAG-GTT |
c.1288_1290delinsAAC |
p.L430N |
Missense |
10/10 |
- |
1 |
7-44184843-C-T |
c.1290G>A |
p.L430= |
Synonymous |
10/10 |
- |
1 |
7-44184844-A-C |
c.1289T>G |
p.L430R |
Missense |
10/10 |
- |
1 |
7-44184844-A-G |
c.1289T>C |
p.L430P |
Missense |
10/10 |
- |
5 |
7-44184844-AG-CA |
c.1288_1289delinsTG |
p.L430W |
Missense |
10/10 |
- |
1 |
7-44184844-AG-CC |
c.1288_1289delinsGG |
p.L430G |
Missense |
10/10 |
- |
1 |
7-44184844-AG-GA |
c.1288_1289delinsTC |
p.L430S |
Missense |
10/10 |
- |
1 |
7-44184844-AG-GC |
c.1288_1289delinsGC |
p.L430A |
Missense |
10/10 |
- |
1 |
7-44184844-AG-GT |
c.1288_1289delinsAC |
p.L430T |
Missense |
10/10 |
- |
1 |
7-44184844-AG-TC |
c.1288_1289delinsGA |
p.L430E |
Missense |
10/10 |
- |
1 |
7-44184844-AG-TT |
c.1288_1289delinsAA |
p.L430K |
Missense |
10/10 |
- |
1 |
7-44184844-A-T |
c.1289T>A |
p.L430Q |
Missense |
10/10 |
- |
1 |
7-44184845-G-A |
c.1288C>T |
p.L430= |
Synonymous |
10/10 |
- |
1 |
7-44184845-G-C |
c.1288C>G |
p.L430V |
Missense |
10/10 |
- |
1 |
7-44184845-G-T |
c.1288C>A |
p.L430M |
Missense |
10/10 |
- |
1 |
7-44184846-C-A |
c.1287G>T |
p.R429S |
Missense |
10/10 |
- |
3 |
7-44184846-CC-GA |
c.1286_1287delinsTC |
p.R429I |
Missense |
10/10 |
- |
1 |
7-44184846-CC-GT |
c.1286_1287delinsAC |
p.R429N |
Missense |
10/10 |
- |
1 |
7-44184846-CCT-AAA |
c.1285_1287delinsTTT |
p.R429F |
Missense |
10/10 |
- |
1 |
7-44184846-CCT-ACA |
c.1285_1287delinsTGT |
p.R429C |
Missense |
10/10 |
- |
3 |
7-44184846-CCT-ATA |
c.1285_1287delinsTAT |
p.R429Y |
Missense |
10/10 |
- |
1 |
7-44184846-CCT-ATG |
c.1285_1287delinsCAT |
p.R429H |
Missense |
10/10 |
- |
2 |
7-44184846-CCT-GTC |
c.1285_1287delinsGAC |
p.R429D |
Missense |
10/10 |
- |
1 |
7-44184846-C-G |
c.1287G>C |
p.R429S |
Missense |
10/10 |
- |
4 |
7-44184846-C-T |
c.1287G>A |
p.R429= |
Synonymous |
10/10 |
- |
1 |
7-44184847-C-A |
c.1286G>T |
p.R429M |
Missense |
10/10 |
- |
1 |
7-44184847-C-G |
c.1286G>C |
p.R429T |
Missense |
10/10 |
- |
1 |
7-44184847-C-T |
c.1286G>A |
p.R429K |
Missense |
10/10 |
- |
4 |
7-44184847-CT-AC |
c.1285_1286delinsGT |
p.R429V |
Missense |
10/10 |
- |
1 |
7-44184847-CT-AG |
c.1285_1286inv |
p.R429L |
Missense |
10/10 |
- |
1 |
7-44184847-CT-GC |
c.1285_1286delinsGC |
p.R429A |
Missense |
10/10 |
- |
1 |
7-44184847-CT-GG |
c.1285_1286delinsCC |
p.R429P |
Missense |
10/10 |
- |
1 |
7-44184847-CT-TC |
c.1285_1286delinsGA |
p.R429E |
Missense |
10/10 |
- |
1 |
7-44184847-CT-TG |
c.1285_1286delinsCA |
p.R429Q |
Missense |
10/10 |
- |
1 |
7-44184848-T-A |
c.1285A>T |
p.R429W |
Missense |
10/10 |
- |
1 |
7-44184848-T-C |
c.1285A>G |
p.R429G |
Missense |
10/10 |
- |
1 |
7-44184849-GCG-CAT |
c.1282_1284delinsATG |
p.R428M |
Missense |
10/10 |
- |
1 |
7-44184849-GCG-CCA |
c.1282_1284delinsTGG |
p.R428W |
Missense |
10/10 |
- |
1 |
7-44184849-GCG-CTC |
c.1282_1284delinsGAG |
p.R428E |
Missense |
10/10 |
- |
1 |
7-44184849-GCG-CTT |
c.1282_1284delinsAAG |
p.R428K |
Missense |
10/10 |
- |
1 |
7-44184849-GC-TT |
c.1283_1284delinsAA |
p.R428Q |
Missense |
10/10 |
- |
1 |
7-44184850-C-A |
c.1283G>T |
p.R428L |
Missense |
10/10 |
- |
2 |
7-44184850-C-G |
c.1283G>C |
p.R428P |
Missense |
10/10 |
- |
2 |
7-44184850-CG-AA |
c.1282_1283delinsTT |
p.R428F |
Missense |
10/10 |
- |
1 |
7-44184850-CG-AC |
c.1282_1283delinsGT |
p.R428V |
Missense |
10/10 |
- |
1 |
7-44184850-CG-AT |
c.1282_1283delinsAT |
p.R428I |
Missense |
10/10 |
- |
1 |
7-44184850-CG-GC |
c.1282_1283delinsGC |
p.R428A |
Missense |
10/10 |
- |
1 |
7-44184850-CG-GT |
c.1282_1283delinsAC |
p.R428T |
Missense |
10/10 |
- |
1 |
7-44184850-CG-TA |
c.1282_1283delinsTA |
p.R428Y |
Missense |
10/10 |
- |
1 |
7-44184850-CG-TC |
c.1282_1283delinsGA |
p.R428D |
Missense |
10/10 |
- |
1 |
7-44184850-CG-TT |
c.1282_1283delinsAA |
p.R428N |
Missense |
10/10 |
- |
1 |
7-44184850-C-T |
c.1283G>A |
p.R428H |
Missense |
10/10 |
- |
2 |
7-44184848-TGC-T |
c.1283_1284del |
p.R428Qfs*30 |
Frameshift |
10/10 |
- |
1 |
7-44184851-G-A |
c.1282C>T |
p.R428C |
Missense |
10/10 |
- |
2 |
7-44184851-G-C |
c.1282C>G |
p.R428G |
Missense |
10/10 |
- |
1 |
7-44184851-G-T |
c.1282C>A |
p.R428S |
Missense |
10/10 |
- |
2 |
7-44184852-CAC-AAA |
c.1279_1281delinsTTT |
p.V427F |
Missense |
10/10 |
- |
1 |
7-44184852-CAC-ACA |
c.1279_1281delinsTGT |
p.V427C |
Missense |
10/10 |
- |
1 |
7-44184852-CAC-ATA |
c.1279_1281delinsTAT |
p.V427Y |
Missense |
10/10 |
- |
1 |
7-44184852-CAC-ATG |
c.1279_1281delinsCAT |
p.V427H |
Missense |
10/10 |
- |
1 |
7-44184852-CAC-GAT |
c.1279_1281delinsATC |
p.V427I |
Missense |
10/10 |
- |
1 |
7-44184852-CAC-GTT |
c.1279_1281delinsAAC |
p.V427N |
Missense |
10/10 |
- |
1 |
7-44184852-CA-GT |
c.1280_1281delinsAC |
p.V427D |
Missense |
10/10 |
- |
1 |
7-44184853-A-C |
c.1280T>G |
p.V427G |
Missense |
10/10 |
- |
1 |
7-44184853-AC-CA |
c.1279_1280delinsTG |
p.V427W |
Missense |
10/10 |
- |
1 |
7-44184853-AC-CT |
c.1279_1280delinsAG |
p.V427R |
Missense |
10/10 |
- |
1 |
7-44184853-AC-GA |
c.1279_1280delinsTC |
p.V427S |
Missense |
10/10 |
- |
1 |
7-44184853-AC-GG |
c.1279_1280delinsCC |
p.V427P |
Missense |
10/10 |
- |
1 |
7-44184853-AC-GT |
c.1279_1280inv |
p.V427T |
Missense |
10/10 |
- |
1 |
7-44184853-AC-TG |
c.1279_1280delinsCA |
p.V427Q |
Missense |
10/10 |
- |
1 |
7-44184853-AC-TT |
c.1279_1280delinsAA |
p.V427K |
Missense |
10/10 |
- |
1 |
7-44184853-A-G |
c.1280T>C |
p.V427A |
Missense |
10/10 |
- |
1 |
7-44184853-A-T |
c.1280T>A |
p.V427E |
Missense |
10/10 |
- |
1 |
7-44184854-C-A |
c.1279G>T |
p.V427L |
Missense |
10/10 |
- |
1 |
7-44184854-C-G |
c.1279G>C |
p.V427L |
Missense |
10/10 |
- |
1 |
7-44184854-C-T |
c.1279G>A |
p.V427M |
Missense |
10/10 |
- |
1 |
7-44184853-ACG-A |
c.1278_1279del |
p.V427Afs*31 |
Frameshift |
10/10 |
- |
1 |
7-44184855-G-C |
c.1278C>G |
p.S426R |
Missense |
10/10 |
- |
1 |
7-44184855-GC-CA |
c.1277_1278delinsTG |
p.S426M |
Missense |
10/10 |
- |
1 |
7-44184855-GC-CT |
c.1277_1278delinsAG |
p.S426K |
Missense |
10/10 |
- |
1 |
7-44184855-GCT-CCA |
c.1276_1278delinsTGG |
p.S426W |
Missense |
10/10 |
- |
1 |
7-44184855-GCT-CTC |
c.1276_1278delinsGAG |
p.S426E |
Missense |
10/10 |
- |
1 |
7-44184855-GCT-TTG |
c.1276_1278delinsCAA |
p.S426Q |
Missense |
10/10 |
- |
1 |
7-44184855-G-T |
c.1278C>A |
p.S426R |
Missense |
10/10 |
- |
1 |
7-44184857-T-G |
c.1276A>C |
p.S426R |
Missense |
10/10 |
- |
1 |
7-44184856-C-A |
c.1277G>T |
p.S426I |
Missense |
10/10 |
- |
1 |
7-44184856-C-G |
c.1277G>C |
p.S426T |
Missense |
10/10 |
- |
1 |
7-44184856-C-T |
c.1277G>A |
p.S426N |
Missense |
10/10 |
- |
1 |
7-44184856-CT-AA |
c.1276_1277delinsTT |
p.S426F |
Missense |
10/10 |
- |
1 |
7-44184856-CT-AC |
c.1276_1277delinsGT |
p.S426V |
Missense |
10/10 |
- |
1 |
7-44184856-CT-AG |
c.1276_1277inv |
p.S426L |
Missense |
10/10 |
- |
1 |
7-44184856-CT-GC |
c.1276_1277delinsGC |
p.S426A |
Missense |
10/10 |
- |
1 |
7-44184856-CT-GG |
c.1276_1277delinsCC |
p.S426P |
Missense |
10/10 |
- |
1 |
7-44184856-CT-TA |
c.1276_1277delinsTA |
p.S426Y |
Missense |
10/10 |
- |
1 |
7-44184856-CT-TC |
c.1276_1277delinsGA |
p.S426D |
Missense |
10/10 |
- |
1 |
7-44184856-CT-TG |
c.1276_1277delinsCA |
p.S426H |
Missense |
10/10 |
- |
1 |
7-44184857-T-A |
c.1276A>T |
p.S426C |
Missense |
10/10 |
- |
1 |
7-44184857-T-C |
c.1276A>G |
p.S426G |
Missense |
10/10 |
- |
1 |
7-44184858-GGC-CAT |
c.1273_1275delinsATG |
p.A425M |
Missense |
10/10 |
- |
1 |
7-44184858-GGC-CCA |
c.1273_1275delinsTGG |
p.A425W |
Missense |
10/10 |
- |
1 |
7-44184858-GGC-CTT |
c.1273_1275delinsAAG |
p.A425K |
Missense |
10/10 |
- |
1 |
7-44184858-GG-CT |
c.1274_1275delinsAG |
p.A425E |
Missense |
10/10 |
- |
1 |
7-44184858-GGC-TTG |
c.1273_1275delinsCAA |
p.A425Q |
Missense |
10/10 |
- |
1 |
7-44184859-G-A |
c.1274C>T |
p.A425V |
Missense |
10/10 |
- |
1 |
7-44184859-G-C |
c.1274C>G |
p.A425G |
Missense |
10/10 |
- |
1 |
7-44184859-GC-AA |
c.1273_1274delinsTT |
p.A425F |
Missense |
10/10 |
- |
1 |
7-44184859-GC-AG |
c.1273_1274delinsCT |
p.A425L |
Missense |
10/10 |
- |
1 |
7-44184859-GC-AT |
c.1273_1274delinsAT |
p.A425I |
Missense |
10/10 |
- |
1 |
7-44184859-GC-CA |
c.1273_1274delinsTG |
p.A425C |
Missense |
10/10 |
- |
1 |
7-44184859-GC-CG |
c.1273_1274delinsCG |
p.A425R |
Missense |
10/10 |
- |
1 |
7-44184859-GC-TA |
c.1273_1274delinsTA |
p.A425Y |
Missense |
10/10 |
- |
1 |
7-44184859-GC-TG |
c.1273_1274delinsCA |
p.A425H |
Missense |
10/10 |
- |
1 |
7-44184859-GC-TT |
c.1273_1274delinsAA |
p.A425N |
Missense |
10/10 |
- |
1 |
7-44184859-G-T |
c.1274C>A |
p.A425D |
Missense |
10/10 |
- |
1 |
7-44184860-C-A |
c.1273G>T |
p.A425S |
Missense |
10/10 |
- |
1 |
7-44184860-C-G |
c.1273G>C |
p.A425P |
Missense |
10/10 |
- |
1 |
7-44184860-C-T |
c.1273G>A |
p.A425T |
Missense |
10/10 |
- |
1 |
7-44184861-A-C |
c.1272T>G |
p.H424Q |
Missense |
10/10 |
- |
1 |
7-44184861-A-T |
c.1272T>A |
p.H424Q |
Missense |
10/10 |
- |
1 |
7-44184861-ATG-CAT |
c.1270_1272inv |
p.H424M |
Missense |
10/10 |
- |
1 |
7-44184861-ATG-CCA |
c.1270_1272delinsTGG |
p.H424W |
Missense |
10/10 |
- |
1 |
7-44184861-ATG-CTC |
c.1270_1272delinsGAG |
p.H424E |
Missense |
10/10 |
- |
1 |
7-44184861-ATG-CTT |
c.1270_1272delinsAAG |
p.H424K |
Missense |
10/10 |
- |
1 |
7-44184862-T-A |
c.1271A>T |
p.H424L |
Missense |
10/10 |
- |
1 |
7-44184862-T-C |
c.1271A>G |
p.H424R |
Missense |
10/10 |
- |
1 |
7-44184862-T-G |
c.1271A>C |
p.H424P |
Missense |
10/10 |
- |
1 |
7-44184862-TG-AA |
c.1270_1271delinsTT |
p.H424F |
Missense |
10/10 |
- |
1 |
7-44184862-TG-AC |
c.1270_1271delinsGT |
p.H424V |
Missense |
10/10 |
- |
1 |
7-44184862-TG-AT |
c.1270_1271delinsAT |
p.H424I |
Missense |
10/10 |
- |
1 |
7-44184862-TG-CA |
c.1270_1271inv |
p.H424C |
Missense |
10/10 |
- |
1 |
7-44184862-TG-CC |
c.1270_1271delinsGG |
p.H424G |
Missense |
10/10 |
- |
1 |
7-44184862-TG-CT |
c.1270_1271delinsAG |
p.H424S |
Missense |
10/10 |
- |
1 |
7-44184862-TG-GC |
c.1270_1271delinsGC |
p.H424A |
Missense |
10/10 |
- |
1 |
7-44184862-TG-GT |
c.1270_1271delinsAC |
p.H424T |
Missense |
10/10 |
- |
1 |
7-44184863-G-A |
c.1270C>T |
p.H424Y |
Missense |
10/10 |
- |
3 |
7-44184863-G-C |
c.1270C>G |
p.H424D |
Missense |
10/10 |
- |
1 |
7-44184863-G-T |
c.1270C>A |
p.H424N |
Missense |
10/10 |
- |
1 |
7-44184864-GAA-CAT |
c.1267_1269delinsATG |
p.F423M |
Missense |
10/10 |
- |
1 |
7-44184864-GAA-CTC |
c.1267_1269delinsGAG |
p.F423E |
Missense |
10/10 |
- |
1 |
7-44184864-GAA-CTT |
c.1267_1269delinsAAG |
p.F423K |
Missense |
10/10 |
- |
1 |
7-44184864-GAA-TTG |
c.1267_1269delinsCAA |
p.F423Q |
Missense |
10/10 |
- |
1 |
7-44184864-GA-CC |
c.1268_1269delinsGG |
p.F423W |
Missense |
10/10 |
- |
1 |
7-44184865-AA-CC |
c.1267_1268delinsGG |
p.F423G |
Missense |
10/10 |
- |
1 |
7-44184865-AA-CG |
c.1267_1268delinsCG |
p.F423R |
Missense |
10/10 |
- |
1 |
7-44184865-AA-GC |
c.1267_1268delinsGC |
p.F423A |
Missense |
10/10 |
- |
1 |
7-44184865-AA-GG |
c.1267_1268delinsCC |
p.F423P |
Missense |
10/10 |
- |
1 |
7-44184865-AA-GT |
c.1267_1268delinsAC |
p.F423T |
Missense |
10/10 |
- |
1 |
7-44184865-AA-TC |
c.1267_1268delinsGA |
p.F423D |
Missense |
10/10 |
- |
1 |
7-44184865-AA-TG |
c.1267_1268delinsCA |
p.F423H |
Missense |
10/10 |
- |
1 |
7-44184865-AA-TT |
c.1267_1268inv |
p.F423N |
Missense |
10/10 |
- |
1 |
7-44184865-A-C |
c.1268T>G |
p.F423C |
Missense |
10/10 |
- |
1 |
7-44184865-A-G |
c.1268T>C |
p.F423S |
Missense |
10/10 |
- |
6 |
7-44184865-A-T |
c.1268T>A |
p.F423Y |
Missense |
10/10 |
- |
8 |
7-44184864-G-C |
c.1269C>G |
p.F423L |
Missense |
10/10 |
- |
1 |
7-44184864-G-T |
c.1269C>A |
p.F423L |
Missense |
10/10 |
- |
2 |
7-44184866-A-C |
c.1267T>G |
p.F423V |
Missense |
10/10 |
- |
1 |
7-44184866-A-G |
c.1267T>C |
p.F423L |
Missense |
10/10 |
- |
1 |
7-44184866-A-T |
c.1267T>A |
p.F423I |
Missense |
10/10 |
- |
1 |
7-44184867-CC-AT |
c.1265_1266delinsAT |
p.R422H |
Missense |
10/10 |
- |
1 |
7-44184867-CCG-AAA |
c.1264_1266delinsTTT |
p.R422F |
Missense |
10/10 |
- |
1 |
7-44184867-CCG-ACA |
c.1264_1266delinsTGT |
p.R422C |
Missense |
10/10 |
- |
1 |
7-44184867-CCG-ATA |
c.1264_1266delinsTAT |
p.R422Y |
Missense |
10/10 |
- |
1 |
7-44184867-CCG-GAT |
c.1264_1266delinsATC |
p.R422I |
Missense |
10/10 |
- |
1 |
7-44184867-CCG-GCT |
c.1264_1266delinsAGC |
p.R422S |
Missense |
10/10 |
- |
2 |
7-44184867-CCG-GTC |
c.1264_1266delinsGAC |
p.R422D |
Missense |
10/10 |
- |
1 |
7-44184867-CCG-GTT |
c.1264_1266delinsAAC |
p.R422N |
Missense |
10/10 |
- |
1 |
7-44184868-C-A |
c.1265G>T |
p.R422L |
Missense |
10/10 |
- |
2 |
7-44184868-C-G |
c.1265G>C |
p.R422P |
Missense |
10/10 |
- |
1 |
7-44184868-CG-AC |
c.1264_1265delinsGT |
p.R422V |
Missense |
10/10 |
- |
1 |
7-44184868-CG-AT |
c.1264_1265delinsAT |
p.R422M |
Missense |
10/10 |
- |
1 |
7-44184868-CG-GC |
c.1264_1265delinsGC |
p.R422A |
Missense |
10/10 |
- |
1 |
7-44184868-CG-GT |
c.1264_1265delinsAC |
p.R422T |
Missense |
10/10 |
- |
1 |
7-44184868-CG-TC |
c.1264_1265delinsGA |
p.R422E |
Missense |
10/10 |
- |
1 |
7-44184868-CG-TT |
c.1264_1265delinsAA |
p.R422K |
Missense |
10/10 |
- |
1 |
7-44184868-C-T |
c.1265G>A |
p.R422Q |
Missense |
10/10 |
- |
1 |
7-44184869-G-A |
c.1264C>T |
p.R422W |
Missense |
10/10 |
- |
4 |
7-44184869-G-C |
c.1264C>G |
p.R422G |
Missense |
10/10 |
- |
2 |
7-44184870-C-A |
c.1263G>T |
p.E421D |
Missense |
10/10 |
- |
1 |
7-44184870-C-G |
c.1263G>C |
p.E421D |
Missense |
10/10 |
- |
1 |
7-44184870-CTC-AAA |
c.1261_1263delinsTTT |
p.E421F |
Missense |
10/10 |
- |
1 |
7-44184870-CTC-ACA |
c.1261_1263delinsTGT |
p.E421C |
Missense |
10/10 |
- |
1 |
7-44184870-CTC-ATA |
c.1261_1263delinsTAT |
p.E421Y |
Missense |
10/10 |
- |
1 |
7-44184870-CTC-ATG |
c.1261_1263delinsCAT |
p.E421H |
Missense |
10/10 |
- |
1 |
7-44184870-CTC-GAT |
c.1261_1263delinsATC |
p.E421I |
Missense |
10/10 |
- |
1 |
7-44184870-CTC-GTT |
c.1261_1263delinsAAC |
p.E421N |
Missense |
10/10 |
- |
1 |
7-44184871-T-A |
c.1262A>T |
p.E421V |
Missense |
10/10 |
- |
1 |
7-44184871-T-C |
c.1262A>G |
p.E421G |
Missense |
10/10 |
- |
4 |
7-44184871-TC-AG |
c.1261_1262delinsCT |
p.E421L |
Missense |
10/10 |
- |
1 |
7-44184871-TC-AT |
c.1261_1262delinsAT |
p.E421M |
Missense |
10/10 |
- |
1 |
7-44184871-TC-CA |
c.1261_1262delinsTG |
p.E421W |
Missense |
10/10 |
- |
1 |
7-44184871-TC-CT |
c.1261_1262delinsAG |
p.E421R |
Missense |
10/10 |
- |
2 |
7-44184871-TC-GA |
c.1261_1262inv |
p.E421S |
Missense |
10/10 |
- |
1 |
7-44184871-TC-GG |
c.1261_1262delinsCC |
p.E421P |
Missense |
10/10 |
- |
1 |
7-44184871-TC-GT |
c.1261_1262delinsAC |
p.E421T |
Missense |
10/10 |
- |
1 |
7-44184871-T-G |
c.1262A>C |
p.E421A |
Missense |
10/10 |
- |
1 |
7-44184872-C-CA |
c.1260_1261insT |
p.E421* |
Nonsense |
10/10 |
- |
1 |
7-44184872-C-G |
c.1261G>C |
p.E421Q |
Missense |
10/10 |
- |
1 |
7-44184872-C-T |
c.1261G>A |
p.E421K |
Missense |
10/10 |
- |
3 |
7-44184871-TC-T |
c.1261del |
p.E421Sfs*10 |
Frameshift |
10/10 |
- |
1 |
7-44184873-C-A |
c.1260G>T |
p.K420N |
Missense |
10/10 |
- |
2 |
7-44184873-C-G |
c.1260G>C |
p.K420N |
Missense |
10/10 |
- |
1 |
7-44184873-CT-GA |
c.1259_1260delinsTC |
p.K420I |
Missense |
10/10 |
- |
1 |
7-44184873-CT-GC |
c.1259_1260delinsGC |
p.K420S |
Missense |
10/10 |
- |
1 |
7-44184873-CTT-AAA |
c.1258_1260delinsTTT |
p.K420F |
Missense |
10/10 |
- |
1 |
7-44184873-CTT-ACA |
c.1258_1260delinsTGT |
p.K420C |
Missense |
10/10 |
- |
1 |
7-44184873-CTT-ATA |
c.1258_1260delinsTAT |
p.K420Y |
Missense |
10/10 |
- |
1 |
7-44184873-CTT-ATG |
c.1258_1260delinsCAT |
p.K420H |
Missense |
10/10 |
- |
1 |
7-44184873-CTT-GTC |
c.1258_1260delinsGAC |
p.K420D |
Missense |
10/10 |
- |
1 |
7-44184874-T-A |
c.1259A>T |
p.K420M |
Missense |
10/10 |
- |
1 |
7-44184874-T-C |
c.1259A>G |
p.K420R |
Missense |
10/10 |
- |
1 |
7-44184874-T-G |
c.1259A>C |
p.K420T |
Missense |
10/10 |
- |
1 |
7-44184874-TT-AC |
c.1258_1259delinsGT |
p.K420V |
Missense |
10/10 |
- |
1 |
7-44184874-TT-AG |
c.1258_1259delinsCT |
p.K420L |
Missense |
10/10 |
- |
1 |
7-44184874-TT-CA |
c.1258_1259delinsTG |
p.K420W |
Missense |
10/10 |
- |
1 |
7-44184874-TT-CC |
c.1258_1259delinsGG |
p.K420G |
Missense |
10/10 |
- |
1 |
7-44184874-TT-GC |
c.1258_1259delinsGC |
p.K420A |
Missense |
10/10 |
- |
1 |
7-44184874-TT-GG |
c.1258_1259delinsCC |
p.K420P |
Missense |
10/10 |
- |
1 |
7-44184873-CT-C |
c.1259del |
p.K420Rfs*11 |
Frameshift |
10/10 |
- |
1 |
7-44184875-T-C |
c.1258A>G |
p.K420E |
Missense |
10/10 |
- |
4 |
7-44184875-T-G |
c.1258A>C |
p.K420Q |
Missense |
10/10 |
- |
1 |
7-44184876-GAA-CAT |
c.1255_1257delinsATG |
p.F419M |
Missense |
10/10 |
- |
1 |
7-44184876-GAA-CTC |
c.1255_1257delinsGAG |
p.F419E |
Missense |
10/10 |
- |
1 |
7-44184876-GAA-CTT |
c.1255_1257delinsAAG |
p.F419K |
Missense |
10/10 |
- |
1 |
7-44184876-GAA-TTG |
c.1255_1257delinsCAA |
p.F419Q |
Missense |
10/10 |
- |
1 |
7-44184876-GA-CC |
c.1256_1257delinsGG |
p.F419W |
Missense |
10/10 |
- |
1 |
7-44184877-AA-CC |
c.1255_1256delinsGG |
p.F419G |
Missense |
10/10 |
- |
1 |
7-44184877-AA-CG |
c.1255_1256delinsCG |
p.F419R |
Missense |
10/10 |
- |
1 |
7-44184877-AA-GC |
c.1255_1256delinsGC |
p.F419A |
Missense |
10/10 |
- |
1 |
7-44184877-AA-GG |
c.1255_1256delinsCC |
p.F419P |
Missense |
10/10 |
- |
1 |
7-44184877-AA-GT |
c.1255_1256delinsAC |
p.F419T |
Missense |
10/10 |
- |
1 |
7-44184877-AA-TC |
c.1255_1256delinsGA |
p.F419D |
Missense |
10/10 |
- |
1 |
7-44184877-AA-TG |
c.1255_1256delinsCA |
p.F419H |
Missense |
10/10 |
- |
1 |
7-44184877-AA-TT |
c.1255_1256inv |
p.F419N |
Missense |
10/10 |
- |
1 |
7-44184877-A-C |
c.1256T>G |
p.F419C |
Missense |
10/10 |
- |
4 |
7-44184877-A-G |
c.1256T>C |
p.F419S |
Missense |
10/10 |
- |
3 |
7-44184877-A-T |
c.1256T>A |
p.F419Y |
Missense |
10/10 |
- |
1 |
7-44184876-GA-G |
c.1256del |
p.F419Sfs*12 |
Frameshift |
10/10 |
- |
6 |
7-44184876-G-C |
c.1257C>G |
p.F419L |
Missense |
10/10 |
- |
3 |
7-44184876-G-T |
c.1257C>A |
p.F419L |
Missense |
10/10 |
- |
3 |
7-44184878-A-C |
c.1255T>G |
p.F419V |
Missense |
10/10 |
- |
2 |
7-44184878-A-G |
c.1255T>C |
p.F419L |
Missense |
10/10 |
- |
3 |
7-44184878-A-T |
c.1255T>A |
p.F419I |
Missense |
10/10 |
- |
1 |
7-44184879-G-C |
c.1254C>G |
p.S418R |
Missense |
10/10 |
- |
1 |
7-44184879-G-T |
c.1254C>A |
p.S418R |
Missense |
10/10 |
- |
3 |
7-44185097-T-G |
c.1252A>C |
p.S418R |
Missense |
9/10 |
- |
1 |
7-44184992-C-T |
c.1253+104G>A |
- |
IntronicSNV |
- |
9/9 |
1 |
7-44185010-A-T |
c.1253+86T>A |
- |
IntronicSNV |
- |
9/9 |
1 |
7-44185041-G-A |
c.1253+55C>T |
- |
IntronicSNV |
- |
9/9 |
1 |
7-44185045-C-T |
c.1253+51G>A |
- |
IntronicSNV |
- |
9/9 |
1 |
7-44185047-C-T |
c.1253+49G>A |
- |
IntronicSNV |
- |
9/9 |
2 |
7-44185088-G-A |
c.1253+8C>T |
- |
IntronicSNV |
- |
9/9 |
21 |
7-44185088-G-T |
c.1253+8C>A |
- |
IntronicSNV |
- |
9/9 |
13 |
7-44185094-A-T |
c.1253+2T>A |
- |
IntronicSNV |
- |
9/9 |
1 |
7-44185095-C-A |
c.1253+1G>T |
- |
IntronicSNV |
- |
9/9 |
1 |
7-44185096-C-A |
c.1253G>T |
p.S418I |
Missense |
9/10 |
- |
3 |
7-44185096-C-G |
c.1253G>C |
p.S418T |
Missense |
9/10 |
- |
2 |
7-44185096-C-T |
c.1253G>A |
p.S418N |
Missense |
9/10 |
- |
2 |
7-44185096-CT-AA |
c.1252_1253delinsTT |
p.S418F |
Missense |
9/10 |
- |
1 |
7-44185096-CT-AC |
c.1252_1253delinsGT |
p.S418V |
Missense |
9/10 |
- |
1 |
7-44185096-CT-AG |
c.1252_1253inv |
p.S418L |
Missense |
9/10 |
- |
1 |
7-44185096-CT-GC |
c.1252_1253delinsGC |
p.S418A |
Missense |
9/10 |
- |
1 |
7-44185096-CT-GG |
c.1252_1253delinsCC |
p.S418P |
Missense |
9/10 |
- |
1 |
7-44185096-CT-TA |
c.1252_1253delinsTA |
p.S418Y |
Missense |
9/10 |
- |
1 |
7-44185096-CT-TC |
c.1252_1253delinsGA |
p.S418D |
Missense |
9/10 |
- |
1 |
7-44185096-CT-TG |
c.1252_1253delinsCA |
p.S418H |
Missense |
9/10 |
- |
1 |
7-44185097-T-A |
c.1252A>T |
p.S418C |
Missense |
9/10 |
- |
1 |
7-44185097-T-C |
c.1252A>G |
p.S418G |
Missense |
9/10 |
- |
1 |
7-44185098-GGG-CAT |
c.1249_1251delinsATG |
p.P417M |
Missense |
9/10 |
- |
1 |
7-44185098-GGG-CCA |
c.1249_1251delinsTGG |
p.P417W |
Missense |
9/10 |
- |
1 |
7-44185098-GGG-CTC |
c.1249_1251delinsGAG |
p.P417E |
Missense |
9/10 |
- |
1 |
7-44185098-GGG-CTT |
c.1249_1251delinsAAG |
p.P417K |
Missense |
9/10 |
- |
1 |
7-44185098-GG-TT |
c.1250_1251delinsAA |
p.P417Q |
Missense |
9/10 |
- |
1 |
7-44185099-G-A |
c.1250C>T |
p.P417L |
Missense |
9/10 |
- |
1 |
7-44185099-G-C |
c.1250C>G |
p.P417R |
Missense |
9/10 |
- |
2 |
7-44185099-GG-AA |
c.1249_1250delinsTT |
p.P417F |
Missense |
9/10 |
- |
1 |
7-44185099-GG-AC |
c.1249_1250delinsGT |
p.P417V |
Missense |
9/10 |
- |
1 |
7-44185099-GG-AT |
c.1249_1250delinsAT |
p.P417I |
Missense |
9/10 |
- |
1 |
7-44185099-GG-CA |
c.1249_1250delinsTG |
p.P417C |
Missense |
9/10 |
- |
1 |
7-44185099-GG-CC |
c.1249_1250inv |
p.P417G |
Missense |
9/10 |
- |
1 |
7-44185099-GG-TA |
c.1249_1250delinsTA |
p.P417Y |
Missense |
9/10 |
- |
1 |
7-44185099-GG-TC |
c.1249_1250delinsGA |
p.P417D |
Missense |
9/10 |
- |
1 |
7-44185099-GG-TT |
c.1249_1250delinsAA |
p.P417N |
Missense |
9/10 |
- |
1 |
7-44185099-G-T |
c.1250C>A |
p.P417H |
Missense |
9/10 |
- |
1 |
7-44185100-G-A |
c.1249C>T |
p.P417S |
Missense |
9/10 |
- |
3 |
7-44185100-G-C |
c.1249C>G |
p.P417A |
Missense |
9/10 |
- |
1 |
7-44185100-G-T |
c.1249C>A |
p.P417T |
Missense |
9/10 |
- |
2 |
7-44185101-G-C |
c.1248C>G |
p.H416Q |
Missense |
9/10 |
- |
2 |
7-44185101-G-T |
c.1248C>A |
p.H416Q |
Missense |
9/10 |
- |
2 |
7-44185101-GTG-CAT |
c.1246_1248delinsATG |
p.H416M |
Missense |
9/10 |
- |
1 |
7-44185101-GTG-CCA |
c.1246_1248delinsTGG |
p.H416W |
Missense |
9/10 |
- |
1 |
7-44185101-GTG-CTC |
c.1246_1248delinsGAG |
p.H416E |
Missense |
9/10 |
- |
1 |
7-44185101-GTG-CTT |
c.1246_1248delinsAAG |
p.H416K |
Missense |
9/10 |
- |
1 |
7-44185102-T-A |
c.1247A>T |
p.H416L |
Missense |
9/10 |
- |
1 |
7-44185102-T-C |
c.1247A>G |
p.H416R |
Missense |
9/10 |
- |
3 |
7-44185102-T-G |
c.1247A>C |
p.H416P |
Missense |
9/10 |
- |
3 |
7-44185102-TG-AA |
c.1246_1247delinsTT |
p.H416F |
Missense |
9/10 |
- |
1 |
7-44185102-TG-AC |
c.1246_1247delinsGT |
p.H416V |
Missense |
9/10 |
- |
1 |
7-44185102-TG-AT |
c.1246_1247delinsAT |
p.H416I |
Missense |
9/10 |
- |
1 |
7-44185102-TG-CA |
c.1246_1247inv |
p.H416C |
Missense |
9/10 |
- |
1 |
7-44185102-TG-CC |
c.1246_1247delinsGG |
p.H416G |
Missense |
9/10 |
- |
1 |
7-44185102-TG-CT |
c.1246_1247delinsAG |
p.H416S |
Missense |
9/10 |
- |
1 |
7-44185102-TG-GC |
c.1246_1247delinsGC |
p.H416A |
Missense |
9/10 |
- |
1 |
7-44185102-TG-GT |
c.1246_1247delinsAC |
p.H416T |
Missense |
9/10 |
- |
1 |
7-44185103-G-A |
c.1246C>T |
p.H416Y |
Missense |
9/10 |
- |
3 |
7-44185103-G-C |
c.1246C>G |
p.H416D |
Missense |
9/10 |
- |
2 |
7-44185103-G-T |
c.1246C>A |
p.H416N |
Missense |
9/10 |
- |
1 |
7-44185104-CA-AT |
c.1244_1245delinsAT |
p.L415H |
Missense |
9/10 |
- |
1 |
7-44185104-CAG-AAA |
c.1243_1245delinsTTT |
p.L415F |
Missense |
9/10 |
- |
1 |
7-44185104-CAG-ACA |
c.1243_1245delinsTGT |
p.L415C |
Missense |
9/10 |
- |
1 |
7-44185104-CAG-ATA |
c.1243_1245delinsTAT |
p.L415Y |
Missense |
9/10 |
- |
1 |
7-44185104-CAG-GAT |
c.1243_1245delinsATC |
p.L415I |
Missense |
9/10 |
- |
1 |
7-44185104-CAG-GTC |
c.1243_1245delinsGAC |
p.L415D |
Missense |
9/10 |
- |
1 |
7-44185104-CAG-GTT |
c.1243_1245delinsAAC |
p.L415N |
Missense |
9/10 |
- |
1 |
7-44185105-A-C |
c.1244T>G |
p.L415R |
Missense |
9/10 |
- |
1 |
7-44185105-A-G |
c.1244T>C |
p.L415P |
Missense |
9/10 |
- |
1 |
7-44185105-AG-CA |
c.1243_1244delinsTG |
p.L415W |
Missense |
9/10 |
- |
1 |
7-44185105-AG-CC |
c.1243_1244delinsGG |
p.L415G |
Missense |
9/10 |
- |
1 |
7-44185105-AG-GA |
c.1243_1244delinsTC |
p.L415S |
Missense |
9/10 |
- |
1 |
7-44185105-AG-GC |
c.1243_1244delinsGC |
p.L415A |
Missense |
9/10 |
- |
1 |
7-44185105-AG-GT |
c.1243_1244delinsAC |
p.L415T |
Missense |
9/10 |
- |
1 |
7-44185105-AG-TC |
c.1243_1244delinsGA |
p.L415E |
Missense |
9/10 |
- |
1 |
7-44185105-AG-TT |
c.1243_1244delinsAA |
p.L415K |
Missense |
9/10 |
- |
1 |
7-44185105-A-T |
c.1244T>A |
p.L415Q |
Missense |
9/10 |
- |
1 |
7-44185106-G-C |
c.1243C>G |
p.L415V |
Missense |
9/10 |
- |
3 |
7-44185106-G-T |
c.1243C>A |
p.L415M |
Missense |
9/10 |
- |
1 |
7-44185107-C-A |
c.1242G>T |
p.K414N |
Missense |
9/10 |
- |
1 |
7-44185107-C-G |
c.1242G>C |
p.K414N |
Missense |
9/10 |
- |
1 |
7-44185107-CT-GA |
c.1241_1242delinsTC |
p.K414I |
Missense |
9/10 |
- |
1 |
7-44185107-CT-GC |
c.1241_1242delinsGC |
p.K414S |
Missense |
9/10 |
- |
1 |
7-44185107-CTT-AAA |
c.1240_1242delinsTTT |
p.K414F |
Missense |
9/10 |
- |
1 |
7-44185107-CTT-ACA |
c.1240_1242delinsTGT |
p.K414C |
Missense |
9/10 |
- |
1 |
7-44185107-CTT-ATA |
c.1240_1242delinsTAT |
p.K414Y |
Missense |
9/10 |
- |
1 |
7-44185107-CTT-ATG |
c.1240_1242delinsCAT |
p.K414H |
Missense |
9/10 |
- |
1 |
7-44185107-CTT-GTC |
c.1240_1242delinsGAC |
p.K414D |
Missense |
9/10 |
- |
1 |
7-44185104-CAGCTTGTACACGG-C |
c.1232_1244del |
p.S411Cfs*16 |
Frameshift |
9/10 |
- |
1 |
7-44185108-T-A |
c.1241A>T |
p.K414M |
Missense |
9/10 |
- |
1 |
7-44185108-T-C |
c.1241A>G |
p.K414R |
Missense |
9/10 |
- |
1 |
7-44185108-T-G |
c.1241A>C |
p.K414T |
Missense |
9/10 |
- |
1 |
7-44185108-TT-AC |
c.1240_1241delinsGT |
p.K414V |
Missense |
9/10 |
- |
1 |
7-44185108-TT-AG |
c.1240_1241delinsCT |
p.K414L |
Missense |
9/10 |
- |
1 |
7-44185108-TT-CA |
c.1240_1241delinsTG |
p.K414W |
Missense |
9/10 |
- |
1 |
7-44185108-TT-CC |
c.1240_1241delinsGG |
p.K414G |
Missense |
9/10 |
- |
1 |
7-44185108-TT-GC |
c.1240_1241delinsGC |
p.K414A |
Missense |
9/10 |
- |
1 |
7-44185108-TT-GG |
c.1240_1241delinsCC |
p.K414P |
Missense |
9/10 |
- |
1 |
7-44185107-C-CT |
c.1241dup |
p.L415Afs*44 |
Frameshift |
9/10 |
- |
1 |
7-44185109-T-A |
c.1240A>T |
p.K414* |
Nonsense |
9/10 |
- |
1 |
7-44185109-T-C |
c.1240A>G |
p.K414E |
Missense |
9/10 |
- |
12 |
7-44185109-T-G |
c.1240A>C |
p.K414Q |
Missense |
9/10 |
- |
1 |
7-44185110-G-T |
c.1239C>A |
p.Y413* |
Nonsense |
9/10 |
- |
1 |
7-44185110-GTA-CAT |
c.1237_1239delinsATG |
p.Y413M |
Missense |
9/10 |
- |
1 |
7-44185110-GTA-CTC |
c.1237_1239delinsGAG |
p.Y413E |
Missense |
9/10 |
- |
1 |
7-44185110-GTA-CTT |
c.1237_1239delinsAAG |
p.Y413K |
Missense |
9/10 |
- |
1 |
7-44185110-GTA-TTG |
c.1237_1239delinsCAA |
p.Y413Q |
Missense |
9/10 |
- |
1 |
7-44185110-GT-CC |
c.1238_1239delinsGG |
p.Y413W |
Missense |
9/10 |
- |
1 |
7-44185111-T-A |
c.1238A>T |
p.Y413F |
Missense |
9/10 |
- |
2 |
7-44185111-TA-AC |
c.1237_1238delinsGT |
p.Y413V |
Missense |
9/10 |
- |
1 |
7-44185111-TA-AG |
c.1237_1238delinsCT |
p.Y413L |
Missense |
9/10 |
- |
1 |
7-44185111-TA-AT |
c.1237_1238delinsAT |
p.Y413I |
Missense |
9/10 |
- |
1 |
7-44185111-TA-CC |
c.1237_1238delinsGG |
p.Y413G |
Missense |
9/10 |
- |
1 |
7-44185111-TA-CG |
c.1237_1238delinsCG |
p.Y413R |
Missense |
9/10 |
- |
1 |
7-44185111-TA-GC |
c.1237_1238delinsGC |
p.Y413A |
Missense |
9/10 |
- |
1 |
7-44185111-TA-GG |
c.1237_1238delinsCC |
p.Y413P |
Missense |
9/10 |
- |
1 |
7-44185111-TA-GT |
c.1237_1238delinsAC |
p.Y413T |
Missense |
9/10 |
- |
1 |
7-44185111-T-C |
c.1238A>G |
p.Y413C |
Missense |
9/10 |
- |
2 |
7-44185111-T-G |
c.1238A>C |
p.Y413S |
Missense |
9/10 |
- |
1 |
7-44185112-A-C |
c.1237T>G |
p.Y413D |
Missense |
9/10 |
- |
1 |
7-44185112-A-G |
c.1237T>C |
p.Y413H |
Missense |
9/10 |
- |
1 |
7-44185112-A-T |
c.1237T>A |
p.Y413N |
Missense |
9/10 |
- |
1 |
7-44185113-CAC-AAA |
c.1234_1236delinsTTT |
p.V412F |
Missense |
9/10 |
- |
1 |
7-44185113-CAC-ACA |
c.1234_1236delinsTGT |
p.V412C |
Missense |
9/10 |
- |
1 |
7-44185113-CAC-ATA |
c.1234_1236delinsTAT |
p.V412Y |
Missense |
9/10 |
- |
1 |
7-44185113-CAC-ATG |
c.1234_1236delinsCAT |
p.V412H |
Missense |
9/10 |
- |
1 |
7-44185113-CAC-GAT |
c.1234_1236delinsATC |
p.V412I |
Missense |
9/10 |
- |
1 |
7-44185113-CAC-GTT |
c.1234_1236delinsAAC |
p.V412N |
Missense |
9/10 |
- |
1 |
7-44185113-CA-GT |
c.1235_1236delinsAC |
p.V412D |
Missense |
9/10 |
- |
1 |
7-44185113-C-T |
c.1236G>A |
p.V412= |
Synonymous |
9/10 |
- |
1 |
7-44185114-A-C |
c.1235T>G |
p.V412G |
Missense |
9/10 |
- |
1 |
7-44185114-AC-CA |
c.1234_1235delinsTG |
p.V412W |
Missense |
9/10 |
- |
1 |
7-44185114-AC-CT |
c.1234_1235delinsAG |
p.V412R |
Missense |
9/10 |
- |
1 |
7-44185114-AC-GA |
c.1234_1235delinsTC |
p.V412S |
Missense |
9/10 |
- |
1 |
7-44185114-AC-GG |
c.1234_1235delinsCC |
p.V412P |
Missense |
9/10 |
- |
1 |
7-44185114-AC-GT |
c.1234_1235inv |
p.V412T |
Missense |
9/10 |
- |
1 |
7-44185114-AC-TG |
c.1234_1235delinsCA |
p.V412Q |
Missense |
9/10 |
- |
1 |
7-44185114-AC-TT |
c.1234_1235delinsAA |
p.V412K |
Missense |
9/10 |
- |
1 |
7-44185114-A-G |
c.1235T>C |
p.V412A |
Missense |
9/10 |
- |
1 |
7-44185114-A-T |
c.1235T>A |
p.V412E |
Missense |
9/10 |
- |
2 |
7-44185115-C-A |
c.1234G>T |
p.V412L |
Missense |
9/10 |
- |
1 |
7-44185115-C-G |
c.1234G>C |
p.V412L |
Missense |
9/10 |
- |
1 |
7-44185115-C-T |
c.1234G>A |
p.V412M |
Missense |
9/10 |
- |
5 |
7-44185116-G-A |
c.1233C>T |
p.S411= |
Synonymous |
9/10 |
- |
1 |
7-44185116-G-C |
c.1233C>G |
p.S411= |
Synonymous |
9/10 |
- |
1 |
7-44185116-GGA-CAT |
c.1231_1233delinsATG |
p.S411M |
Missense |
9/10 |
- |
1 |
7-44185116-GGA-CTC |
c.1231_1233delinsGAG |
p.S411E |
Missense |
9/10 |
- |
1 |
7-44185116-GGA-CTT |
c.1231_1233delinsAAG |
p.S411K |
Missense |
9/10 |
- |
1 |
7-44185116-GGA-TTG |
c.1231_1233delinsCAA |
p.S411Q |
Missense |
9/10 |
- |
1 |
7-44185116-GG-CC |
c.1232_1233inv |
p.S411W |
Missense |
9/10 |
- |
1 |
7-44185115-CGGAGCCATCCACGCCCACA-C |
c.1215_1233del |
p.V406Cfs*19 |
Frameshift |
9/10 |
- |
1 |
7-44185117-G-A |
c.1232C>T |
p.S411F |
Missense |
9/10 |
- |
5 |
7-44185117-GA-AC |
c.1231_1232delinsGT |
p.S411V |
Missense |
9/10 |
- |
1 |
7-44185117-GA-AG |
c.1231_1232delinsCT |
p.S411L |
Missense |
9/10 |
- |
2 |
7-44185117-GA-AT |
c.1231_1232delinsAT |
p.S411I |
Missense |
9/10 |
- |
1 |
7-44185117-GA-CC |
c.1231_1232delinsGG |
p.S411G |
Missense |
9/10 |
- |
1 |
7-44185117-GA-CG |
c.1231_1232delinsCG |
p.S411R |
Missense |
9/10 |
- |
1 |
7-44185117-GA-TC |
c.1231_1232inv |
p.S411D |
Missense |
9/10 |
- |
1 |
7-44185117-GA-TG |
c.1231_1232delinsCA |
p.S411H |
Missense |
9/10 |
- |
1 |
7-44185117-GA-TT |
c.1231_1232delinsAA |
p.S411N |
Missense |
9/10 |
- |
1 |
7-44185117-G-C |
c.1232C>G |
p.S411C |
Missense |
9/10 |
- |
1 |
7-44185117-G-T |
c.1232C>A |
p.S411Y |
Missense |
9/10 |
- |
1 |
7-44185118-A-C |
c.1231T>G |
p.S411A |
Missense |
9/10 |
- |
2 |
7-44185118-A-G |
c.1231T>C |
p.S411P |
Missense |
9/10 |
- |
1 |
7-44185118-A-T |
c.1231T>A |
p.S411T |
Missense |
9/10 |
- |
1 |
7-44185119-G-A |
c.1230C>T |
p.G410= |
Synonymous |
9/10 |
- |
2 |
7-44185119-GCC-CAT |
c.1228_1230delinsATG |
p.G410M |
Missense |
9/10 |
- |
1 |
7-44185119-GCC-CCA |
c.1228_1230delinsTGG |
p.G410W |
Missense |
9/10 |
- |
1 |
7-44185119-GCC-CTT |
c.1228_1230delinsAAG |
p.G410K |
Missense |
9/10 |
- |
1 |
7-44185119-GC-CT |
c.1229_1230delinsAG |
p.G410E |
Missense |
9/10 |
- |
1 |
7-44185119-GCC-TTG |
c.1228_1230delinsCAA |
p.G410Q |
Missense |
9/10 |
- |
1 |
7-44185120-C-A |
c.1229G>T |
p.G410V |
Missense |
9/10 |
- |
1 |
7-44185120-CC-AA |
c.1228_1229delinsTT |
p.G410F |
Missense |
9/10 |
- |
1 |
7-44185120-CC-AG |
c.1228_1229delinsCT |
p.G410L |
Missense |
9/10 |
- |
1 |
7-44185120-CC-AT |
c.1228_1229delinsAT |
p.G410I |
Missense |
9/10 |
- |
1 |
7-44185120-CC-GG |
c.1228_1229inv |
p.G410P |
Missense |
9/10 |
- |
1 |
7-44185120-CC-GT |
c.1228_1229delinsAC |
p.G410T |
Missense |
9/10 |
- |
1 |
7-44185120-CC-TA |
c.1228_1229delinsTA |
p.G410Y |
Missense |
9/10 |
- |
1 |
7-44185120-CC-TG |
c.1228_1229delinsCA |
p.G410H |
Missense |
9/10 |
- |
1 |
7-44185120-CC-TT |
c.1228_1229delinsAA |
p.G410N |
Missense |
9/10 |
- |
1 |
7-44185120-C-G |
c.1229G>C |
p.G410A |
Missense |
9/10 |
- |
1 |
7-44185120-C-T |
c.1229G>A |
p.G410D |
Missense |
9/10 |
- |
3 |
7-44185120-GCCATCCACGCCCACAGTGA-G |
c.1211_1229del |
p.I404Tfs*21 |
Frameshift |
9/10 |
- |
1 |
7-44185121-C-A |
c.1228G>T |
p.G410C |
Missense |
9/10 |
- |
2 |
7-44185121-C-G |
c.1228G>C |
p.G410R |
Missense |
9/10 |
- |
2 |
7-44185121-C-T |
c.1228G>A |
p.G410S |
Missense |
9/10 |
- |
1 |
7-44185122-A-C |
c.1227T>G |
p.D409E |
Missense |
9/10 |
- |
1 |
7-44185122-A-T |
c.1227T>A |
p.D409E |
Missense |
9/10 |
- |
1 |
7-44185122-ATC-CAT |
c.1225_1227delinsATG |
p.D409M |
Missense |
9/10 |
- |
1 |
7-44185122-ATC-CCA |
c.1225_1227delinsTGG |
p.D409W |
Missense |
9/10 |
- |
1 |
7-44185122-ATC-CTT |
c.1225_1227delinsAAG |
p.D409K |
Missense |
9/10 |
- |
1 |
7-44185122-ATC-TTG |
c.1225_1227delinsCAA |
p.D409Q |
Missense |
9/10 |
- |
1 |
7-44185123-AT-A |
c.1226del |
p.D409Vfs*22 |
Frameshift |
9/10 |
- |
1 |
7-44185123-T-A |
c.1226A>T |
p.D409V |
Missense |
9/10 |
- |
1 |
7-44185123-T-C |
c.1226A>G |
p.D409G |
Missense |
9/10 |
- |
1 |
7-44185123-TC-AA |
c.1225_1226delinsTT |
p.D409F |
Missense |
9/10 |
- |
1 |
7-44185123-TC-AG |
c.1225_1226delinsCT |
p.D409L |
Missense |
9/10 |
- |
1 |
7-44185123-TC-AT |
c.1225_1226delinsAT |
p.D409I |
Missense |
9/10 |
- |
1 |
7-44185123-TC-CA |
c.1225_1226delinsTG |
p.D409C |
Missense |
9/10 |
- |
1 |
7-44185123-TC-CG |
c.1225_1226delinsCG |
p.D409R |
Missense |
9/10 |
- |
1 |
7-44185123-TC-CT |
c.1225_1226delinsAG |
p.D409S |
Missense |
9/10 |
- |
1 |
7-44185123-TC-GG |
c.1225_1226delinsCC |
p.D409P |
Missense |
9/10 |
- |
1 |
7-44185123-TC-GT |
c.1225_1226delinsAC |
p.D409T |
Missense |
9/10 |
- |
1 |
7-44185123-T-G |
c.1226A>C |
p.D409A |
Missense |
9/10 |
- |
1 |
7-44185124-C-A |
c.1225G>T |
p.D409Y |
Missense |
9/10 |
- |
2 |
7-44185124-C-G |
c.1225G>C |
p.D409H |
Missense |
9/10 |
- |
1 |
7-44185124-C-T |
c.1225G>A |
p.D409N |
Missense |
9/10 |
- |
1 |
7-44185125-CAC-AAA |
c.1222_1224delinsTTT |
p.V408F |
Missense |
9/10 |
- |
1 |
7-44185125-CAC-ACA |
c.1222_1224delinsTGT |
p.V408C |
Missense |
9/10 |
- |
1 |
7-44185125-CAC-ATA |
c.1222_1224delinsTAT |
p.V408Y |
Missense |
9/10 |
- |
1 |
7-44185125-CAC-ATG |
c.1222_1224delinsCAT |
p.V408H |
Missense |
9/10 |
- |
1 |
7-44185125-CAC-GAT |
c.1222_1224delinsATC |
p.V408I |
Missense |
9/10 |
- |
1 |
7-44185125-CAC-GTT |
c.1222_1224delinsAAC |
p.V408N |
Missense |
9/10 |
- |
1 |
7-44185125-CA-GT |
c.1223_1224delinsAC |
p.V408D |
Missense |
9/10 |
- |
1 |
7-44185123-TCCACG-T |
c.1221_1225del |
p.V408Wfs*49 |
Frameshift |
9/10 |
- |
1 |
7-44185126-A-C |
c.1223T>G |
p.V408G |
Missense |
9/10 |
- |
1 |
7-44185126-AC-CA |
c.1222_1223delinsTG |
p.V408W |
Missense |
9/10 |
- |
1 |
7-44185126-AC-CT |
c.1222_1223delinsAG |
p.V408R |
Missense |
9/10 |
- |
1 |
7-44185126-AC-GA |
c.1222_1223delinsTC |
p.V408S |
Missense |
9/10 |
- |
1 |
7-44185126-AC-GG |
c.1222_1223delinsCC |
p.V408P |
Missense |
9/10 |
- |
1 |
7-44185126-AC-GT |
c.1222_1223inv |
p.V408T |
Missense |
9/10 |
- |
1 |
7-44185126-AC-TG |
c.1222_1223delinsCA |
p.V408Q |
Missense |
9/10 |
- |
1 |
7-44185126-AC-TT |
c.1222_1223delinsAA |
p.V408K |
Missense |
9/10 |
- |
1 |
7-44185126-A-G |
c.1223T>C |
p.V408A |
Missense |
9/10 |
- |
1 |
7-44185126-A-T |
c.1223T>A |
p.V408E |
Missense |
9/10 |
- |
1 |
7-44185127-C-A |
c.1222G>T |
p.V408L |
Missense |
9/10 |
- |
3 |
7-44185127-C-G |
c.1222G>C |
p.V408L |
Missense |
9/10 |
- |
1 |
7-44185127-C-T |
c.1222G>A |
p.V408M |
Missense |
9/10 |
- |
5 |
7-44185128-G-A |
c.1221C>T |
p.G407= |
Synonymous |
9/10 |
- |
2 |
7-44185128-G-C |
c.1221C>G |
p.G407= |
Synonymous |
9/10 |
- |
2 |
7-44185128-GCC-CAT |
c.1219_1221delinsATG |
p.G407M |
Missense |
9/10 |
- |
1 |
7-44185128-GCC-CCA |
c.1219_1221delinsTGG |
p.G407W |
Missense |
9/10 |
- |
1 |
7-44185128-GCC-CTT |
c.1219_1221delinsAAG |
p.G407K |
Missense |
9/10 |
- |
1 |
7-44185128-GC-CT |
c.1220_1221delinsAG |
p.G407E |
Missense |
9/10 |
- |
1 |
7-44185128-GCC-TTG |
c.1219_1221delinsCAA |
p.G407Q |
Missense |
9/10 |
- |
1 |
7-44185128-G-T |
c.1221C>A |
p.G407= |
Synonymous |
9/10 |
- |
2 |
7-44185129-C-A |
c.1220G>T |
p.G407V |
Missense |
9/10 |
- |
1 |
7-44185129-CC-AA |
c.1219_1220delinsTT |
p.G407F |
Missense |
9/10 |
- |
1 |
7-44185129-CC-AG |
c.1219_1220delinsCT |
p.G407L |
Missense |
9/10 |
- |
1 |
7-44185129-CC-AT |
c.1219_1220delinsAT |
p.G407I |
Missense |
9/10 |
- |
1 |
7-44185129-CC-GG |
c.1219_1220inv |
p.G407P |
Missense |
9/10 |
- |
1 |
7-44185129-CC-GT |
c.1219_1220delinsAC |
p.G407T |
Missense |
9/10 |
- |
1 |
7-44185129-CC-TA |
c.1219_1220delinsTA |
p.G407Y |
Missense |
9/10 |
- |
1 |
7-44185129-CC-TG |
c.1219_1220delinsCA |
p.G407H |
Missense |
9/10 |
- |
1 |
7-44185129-CC-TT |
c.1219_1220delinsAA |
p.G407N |
Missense |
9/10 |
- |
1 |
7-44185129-C-G |
c.1220G>C |
p.G407A |
Missense |
9/10 |
- |
1 |
7-44185129-C-T |
c.1220G>A |
p.G407D |
Missense |
9/10 |
- |
2 |
7-44185130-C-A |
c.1219G>T |
p.G407C |
Missense |
9/10 |
- |
1 |
7-44185130-C-G |
c.1219G>C |
p.G407R |
Missense |
9/10 |
- |
1 |
7-44185130-C-T |
c.1219G>A |
p.G407S |
Missense |
9/10 |
- |
2 |
7-44185131-CAC-AAA |
c.1216_1218delinsTTT |
p.V406F |
Missense |
9/10 |
- |
1 |
7-44185131-CAC-ACA |
c.1216_1218delinsTGT |
p.V406C |
Missense |
9/10 |
- |
1 |
7-44185131-CAC-ATA |
c.1216_1218delinsTAT |
p.V406Y |
Missense |
9/10 |
- |
1 |
7-44185131-CAC-ATG |
c.1216_1218delinsCAT |
p.V406H |
Missense |
9/10 |
- |
1 |
7-44185131-CAC-GAT |
c.1216_1218delinsATC |
p.V406I |
Missense |
9/10 |
- |
2 |
7-44185131-CAC-GTT |
c.1216_1218delinsAAC |
p.V406N |
Missense |
9/10 |
- |
1 |
7-44185131-CA-GT |
c.1217_1218delinsAC |
p.V406D |
Missense |
9/10 |
- |
1 |
7-44185131-C-T |
c.1218G>A |
p.V406= |
Synonymous |
9/10 |
- |
1 |
7-44185132-A-C |
c.1217T>G |
p.V406G |
Missense |
9/10 |
- |
1 |
7-44185132-AC-CA |
c.1216_1217delinsTG |
p.V406W |
Missense |
9/10 |
- |
1 |
7-44185132-AC-CT |
c.1216_1217delinsAG |
p.V406R |
Missense |
9/10 |
- |
1 |
7-44185132-AC-GA |
c.1216_1217delinsTC |
p.V406S |
Missense |
9/10 |
- |
1 |
7-44185132-AC-GG |
c.1216_1217delinsCC |
p.V406P |
Missense |
9/10 |
- |
1 |
7-44185132-AC-GT |
c.1216_1217inv |
p.V406T |
Missense |
9/10 |
- |
1 |
7-44185132-AC-TG |
c.1216_1217delinsCA |
p.V406Q |
Missense |
9/10 |
- |
1 |
7-44185132-AC-TT |
c.1216_1217delinsAA |
p.V406K |
Missense |
9/10 |
- |
1 |
7-44185132-A-G |
c.1217T>C |
p.V406A |
Missense |
9/10 |
- |
2 |
7-44185132-A-T |
c.1217T>A |
p.V406E |
Missense |
9/10 |
- |
1 |
7-44185133-C-A |
c.1216G>T |
p.V406L |
Missense |
9/10 |
- |
1 |
7-44185133-C-G |
c.1216G>C |
p.V406L |
Missense |
9/10 |
- |
1 |
7-44185133-C-T |
c.1216G>A |
p.V406M |
Missense |
9/10 |
- |
2 |
7-44185134-AG-CA |
c.1214_1215delinsTG |
p.T405M |
Missense |
9/10 |
- |
1 |
7-44185134-AG-CC |
c.1214_1215delinsGG |
p.T405R |
Missense |
9/10 |
- |
1 |
7-44185134-AG-CT |
c.1214_1215inv |
p.T405K |
Missense |
9/10 |
- |
1 |
7-44185134-AGT-CCA |
c.1213_1215delinsTGG |
p.T405W |
Missense |
9/10 |
- |
1 |
7-44185134-AGT-CTC |
c.1213_1215delinsGAG |
p.T405E |
Missense |
9/10 |
- |
1 |
7-44185134-AGT-TTG |
c.1213_1215delinsCAA |
p.T405Q |
Missense |
9/10 |
- |
1 |
7-44185134-A-T |
c.1215T>A |
p.T405= |
Synonymous |
9/10 |
- |
1 |
7-44185134-A-AG |
c.1214dup |
p.V406Cfs*53 |
Frameshift |
9/10 |
- |
1 |
7-44185135-G-A |
c.1214C>T |
p.T405I |
Missense |
9/10 |
- |
1 |
7-44185135-G-C |
c.1214C>G |
p.T405S |
Missense |
9/10 |
- |
1 |
7-44185135-G-T |
c.1214C>A |
p.T405N |
Missense |
9/10 |
- |
1 |
7-44185135-GT-AA |
c.1213_1214delinsTT |
p.T405F |
Missense |
9/10 |
- |
1 |
7-44185135-GT-AC |
c.1213_1214inv |
p.T405V |
Missense |
9/10 |
- |
1 |
7-44185135-GT-AG |
c.1213_1214delinsCT |
p.T405L |
Missense |
9/10 |
- |
1 |
7-44185135-GT-CA |
c.1213_1214delinsTG |
p.T405C |
Missense |
9/10 |
- |
1 |
7-44185135-GT-CC |
c.1213_1214delinsGG |
p.T405G |
Missense |
9/10 |
- |
1 |
7-44185135-GT-TA |
c.1213_1214delinsTA |
p.T405Y |
Missense |
9/10 |
- |
1 |
7-44185135-GT-TC |
c.1213_1214delinsGA |
p.T405D |
Missense |
9/10 |
- |
1 |
7-44185135-GT-TG |
c.1213_1214delinsCA |
p.T405H |
Missense |
9/10 |
- |
1 |
7-44185136-T-A |
c.1213A>T |
p.T405S |
Missense |
9/10 |
- |
1 |
7-44185136-T-C |
c.1213A>G |
p.T405A |
Missense |
9/10 |
- |
1 |
7-44185136-T-G |
c.1213A>C |
p.T405P |
Missense |
9/10 |
- |
1 |
7-44185137-GA-CC |
c.1211_1212delinsGG |
p.I404R |
Missense |
9/10 |
- |
1 |
7-44185137-GA-CT |
c.1211_1212delinsAG |
p.I404K |
Missense |
9/10 |
- |
1 |
7-44185137-GAT-CCA |
c.1210_1212delinsTGG |
p.I404W |
Missense |
9/10 |
- |
1 |
7-44185137-GAT-CTC |
c.1210_1212delinsGAG |
p.I404E |
Missense |
9/10 |
- |
1 |
7-44185137-GAT-TTG |
c.1210_1212delinsCAA |
p.I404Q |
Missense |
9/10 |
- |
1 |
7-44185137-G-C |
c.1212C>G |
p.I404M |
Missense |
9/10 |
- |
1 |
7-44185138-A-C |
c.1211T>G |
p.I404S |
Missense |
9/10 |
- |
3 |
7-44185138-A-G |
c.1211T>C |
p.I404T |
Missense |
9/10 |
- |
1 |
7-44185138-A-T |
c.1211T>A |
p.I404N |
Missense |
9/10 |
- |
1 |
7-44185138-AT-CA |
c.1210_1211delinsTG |
p.I404C |
Missense |
9/10 |
- |
1 |
7-44185138-AT-CC |
c.1210_1211delinsGG |
p.I404G |
Missense |
9/10 |
- |
1 |
7-44185138-AT-GC |
c.1210_1211delinsGC |
p.I404A |
Missense |
9/10 |
- |
1 |
7-44185138-AT-GG |
c.1210_1211delinsCC |
p.I404P |
Missense |
9/10 |
- |
1 |
7-44185138-AT-TA |
c.1210_1211delinsTA |
p.I404Y |
Missense |
9/10 |
- |
1 |
7-44185138-AT-TC |
c.1210_1211delinsGA |
p.I404D |
Missense |
9/10 |
- |
1 |
7-44185138-AT-TG |
c.1210_1211delinsCA |
p.I404H |
Missense |
9/10 |
- |
1 |
7-44185139-T-A |
c.1210A>T |
p.I404F |
Missense |
9/10 |
- |
1 |
7-44185139-T-C |
c.1210A>G |
p.I404V |
Missense |
9/10 |
- |
1 |
7-44185139-T-G |
c.1210A>C |
p.I404L |
Missense |
9/10 |
- |
1 |
7-44185140-GCG-CAT |
c.1207_1209delinsATG |
p.R403M |
Missense |
9/10 |
- |
1 |
7-44185140-GCG-CCA |
c.1207_1209delinsTGG |
p.R403W |
Missense |
9/10 |
- |
1 |
7-44185140-GCG-CTC |
c.1207_1209delinsGAG |
p.R403E |
Missense |
9/10 |
- |
1 |
7-44185140-GCG-CTT |
c.1207_1209delinsAAG |
p.R403K |
Missense |
9/10 |
- |
1 |
7-44185140-GC-TT |
c.1208_1209delinsAA |
p.R403Q |
Missense |
9/10 |
- |
1 |
7-44185140-TG-T |
c.1209del |
p.I404Sfs*27 |
Frameshift |
9/10 |
- |
2 |
7-44185141-C-A |
c.1208G>T |
p.R403L |
Missense |
9/10 |
- |
1 |
7-44185141-C-G |
c.1208G>C |
p.R403P |
Missense |
9/10 |
- |
3 |
7-44185141-CG-AA |
c.1207_1208delinsTT |
p.R403F |
Missense |
9/10 |
- |
1 |
7-44185141-CG-AC |
c.1207_1208delinsGT |
p.R403V |
Missense |
9/10 |
- |
1 |
7-44185141-CG-AT |
c.1207_1208delinsAT |
p.R403I |
Missense |
9/10 |
- |
1 |
7-44185141-CG-GC |
c.1207_1208delinsGC |
p.R403A |
Missense |
9/10 |
- |
1 |
7-44185141-CG-GT |
c.1207_1208delinsAC |
p.R403T |
Missense |
9/10 |
- |
1 |
7-44185141-CG-TA |
c.1207_1208delinsTA |
p.R403Y |
Missense |
9/10 |
- |
1 |
7-44185141-CG-TC |
c.1207_1208delinsGA |
p.R403D |
Missense |
9/10 |
- |
1 |
7-44185141-CG-TT |
c.1207_1208delinsAA |
p.R403N |
Missense |
9/10 |
- |
1 |
7-44185141-C-T |
c.1208G>A |
p.R403H |
Missense |
9/10 |
- |
2 |
7-44185142-G-A |
c.1207C>T |
p.R403C |
Missense |
9/10 |
- |
2 |
7-44185142-G-C |
c.1207C>G |
p.R403G |
Missense |
9/10 |
- |
5 |
7-44185142-G-T |
c.1207C>A |
p.R403S |
Missense |
9/10 |
- |
3 |
7-44185143-C-A |
c.1206G>T |
p.M402I |
Missense |
9/10 |
- |
1 |
7-44185143-CA-GC |
c.1205_1206delinsGC |
p.M402S |
Missense |
9/10 |
- |
1 |
7-44185143-CA-GT |
c.1205_1206delinsAC |
p.M402N |
Missense |
9/10 |
- |
1 |
7-44185143-CAT-AAA |
c.1204_1206delinsTTT |
p.M402F |
Missense |
9/10 |
- |
1 |
7-44185143-CAT-ACA |
c.1204_1206delinsTGT |
p.M402C |
Missense |
9/10 |
- |
1 |
7-44185143-CAT-ATA |
c.1204_1206delinsTAT |
p.M402Y |
Missense |
9/10 |
- |
1 |
7-44185143-CAT-ATG |
c.1204_1206inv |
p.M402H |
Missense |
9/10 |
- |
1 |
7-44185143-CAT-GTC |
c.1204_1206delinsGAC |
p.M402D |
Missense |
9/10 |
- |
1 |
7-44185143-C-G |
c.1206G>C |
p.M402I |
Missense |
9/10 |
- |
1 |
7-44185143-C-T |
c.1206G>A |
p.M402I |
Missense |
9/10 |
- |
1 |
7-44185144-A-C |
c.1205T>G |
p.M402R |
Missense |
9/10 |
- |
1 |
7-44185144-A-G |
c.1205T>C |
p.M402T |
Missense |
9/10 |
- |
1 |
7-44185144-A-T |
c.1205T>A |
p.M402K |
Missense |
9/10 |
- |
1 |
7-44185144-AT-CA |
c.1204_1205delinsTG |
p.M402W |
Missense |
9/10 |
- |
1 |
7-44185144-AT-CC |
c.1204_1205delinsGG |
p.M402G |
Missense |
9/10 |
- |
1 |
7-44185144-AT-GC |
c.1204_1205delinsGC |
p.M402A |
Missense |
9/10 |
- |
1 |
7-44185144-AT-GG |
c.1204_1205delinsCC |
p.M402P |
Missense |
9/10 |
- |
1 |
7-44185144-AT-TC |
c.1204_1205delinsGA |
p.M402E |
Missense |
9/10 |
- |
1 |
7-44185144-AT-TG |
c.1204_1205delinsCA |
p.M402Q |
Missense |
9/10 |
- |
1 |
7-44185145-T-A |
c.1204A>T |
p.M402L |
Missense |
9/10 |
- |
1 |
7-44185145-T-C |
c.1204A>G |
p.M402V |
Missense |
9/10 |
- |
1 |
7-44185145-T-G |
c.1204A>C |
p.M402L |
Missense |
9/10 |
- |
1 |
7-44185139-TGCGCATTACGTCCTCGCTGCGGCTCTC-T |
c.1183_1209del |
p.E395_R403del |
InFrameDeletion |
9/10 |
- |
1 |
7-44185146-TAC-AAA |
c.1201_1203delinsTTT |
p.V401F |
Missense |
9/10 |
- |
1 |
7-44185146-TAC-ACA |
c.1201_1203delinsTGT |
p.V401C |
Missense |
9/10 |
- |
1 |
7-44185146-TAC-ATA |
c.1201_1203delinsTAT |
p.V401Y |
Missense |
9/10 |
- |
1 |
7-44185146-TAC-ATG |
c.1201_1203delinsCAT |
p.V401H |
Missense |
9/10 |
- |
1 |
7-44185146-TAC-CAT |
c.1201_1203delinsATG |
p.V401M |
Missense |
9/10 |
- |
1 |
7-44185146-TAC-CCA |
c.1201_1203delinsTGG |
p.V401W |
Missense |
9/10 |
- |
1 |
7-44185146-TAC-GTT |
c.1201_1203delinsAAC |
p.V401N |
Missense |
9/10 |
- |
1 |
7-44185146-TA-GT |
c.1202_1203delinsAC |
p.V401D |
Missense |
9/10 |
- |
1 |
7-44185147-A-C |
c.1202T>G |
p.V401G |
Missense |
9/10 |
- |
1 |
7-44185147-AC-CT |
c.1201_1202delinsAG |
p.V401R |
Missense |
9/10 |
- |
1 |
7-44185147-AC-GA |
c.1201_1202delinsTC |
p.V401S |
Missense |
9/10 |
- |
1 |
7-44185147-AC-GG |
c.1201_1202delinsCC |
p.V401P |
Missense |
9/10 |
- |
1 |
7-44185147-AC-GT |
c.1201_1202inv |
p.V401T |
Missense |
9/10 |
- |
1 |
7-44185147-AC-TG |
c.1201_1202delinsCA |
p.V401Q |
Missense |
9/10 |
- |
1 |
7-44185147-AC-TT |
c.1201_1202delinsAA |
p.V401K |
Missense |
9/10 |
- |
1 |
7-44185147-A-G |
c.1202T>C |
p.V401A |
Missense |
9/10 |
- |
1 |
7-44185147-A-T |
c.1202T>A |
p.V401E |
Missense |
9/10 |
- |
1 |
7-44185148-AC-A |
c.1201del |
p.V401* |
Frameshift |
9/10 |
- |
1 |
7-44185148-C-A |
c.1201G>T |
p.V401L |
Missense |
9/10 |
- |
1 |
7-44185148-C-G |
c.1201G>C |
p.V401L |
Missense |
9/10 |
- |
2 |
7-44185148-C-T |
c.1201G>A |
p.V401I |
Missense |
9/10 |
- |
3 |
7-44185149-G-A |
c.1200C>T |
p.D400= |
Synonymous |
9/10 |
- |
1 |
7-44185149-G-C |
c.1200C>G |
p.D400E |
Missense |
9/10 |
- |
1 |
7-44185149-G-T |
c.1200C>A |
p.D400E |
Missense |
9/10 |
- |
1 |
7-44185150-T-C |
c.1199A>G |
p.D400G |
Missense |
9/10 |
- |
1 |
7-44185151-C-G |
c.1198G>C |
p.D400H |
Missense |
9/10 |
- |
1 |
7-44185151-C-T |
c.1198G>A |
p.D400N |
Missense |
9/10 |
- |
4 |
7-44185150-TC-T |
c.1198del |
p.D400Tfs*2 |
Frameshift |
9/10 |
- |
3 |
7-44185154-C-A |
c.1195G>T |
p.E399* |
Nonsense |
9/10 |
- |
2 |
7-44185154-C-T |
c.1195G>A |
p.E399K |
Missense |
9/10 |
- |
1 |
7-44185153-TCGCTGCGG-T |
c.1188_1195del |
p.S396Rfs*60 |
Frameshift |
9/10 |
- |
1 |
7-44185155-GCTGCGGCT-G |
c.1186_1193del |
p.S396Rfs*60 |
Frameshift |
9/10 |
- |
2 |
7-44185158-TGCGGCTCTCG-T |
c.1182_1191del |
p.E395Afs*4 |
Frameshift |
9/10 |
- |
1 |
7-44185159-C-A |
c.1190G>T |
p.R397L |
Missense |
9/10 |
- |
10 |
7-44185159-C-T |
c.1190G>A |
p.R397H |
Missense |
9/10 |
- |
3 |
7-44185159-GCGGCTCTC-G |
c.1183_1190del |
p.E395Qfs*61 |
Frameshift |
9/10 |
- |
1 |
7-44185160-G-A |
c.1189C>T |
p.R397C |
Missense |
9/10 |
- |
1 |
7-44185160-G-T |
c.1189C>A |
p.R397S |
Missense |
9/10 |
- |
1 |
7-44185157-TGCGGCTCTC-T |
c.1183_1191del |
p.E395_R397del |
InFrameDeletion |
9/10 |
- |
1 |
7-44185161-G-C |
c.1188C>G |
p.S396R |
Missense |
9/10 |
- |
1 |
7-44185161-GC-CA |
c.1187_1188delinsTG |
p.S396M |
Missense |
9/10 |
- |
1 |
7-44185161-GC-CT |
c.1187_1188delinsAG |
p.S396K |
Missense |
9/10 |
- |
1 |
7-44185161-GCT-CCA |
c.1186_1188delinsTGG |
p.S396W |
Missense |
9/10 |
- |
1 |
7-44185161-GCT-CTC |
c.1186_1188delinsGAG |
p.S396E |
Missense |
9/10 |
- |
1 |
7-44185161-GCT-TTG |
c.1186_1188delinsCAA |
p.S396Q |
Missense |
9/10 |
- |
1 |
7-44185161-G-T |
c.1188C>A |
p.S396R |
Missense |
9/10 |
- |
1 |
7-44185163-T-G |
c.1186A>C |
p.S396R |
Missense |
9/10 |
- |
1 |
7-44185162-C-A |
c.1187G>T |
p.S396I |
Missense |
9/10 |
- |
1 |
7-44185162-C-G |
c.1187G>C |
p.S396T |
Missense |
9/10 |
- |
1 |
7-44185162-C-T |
c.1187G>A |
p.S396N |
Missense |
9/10 |
- |
1 |
7-44185162-CT-AA |
c.1186_1187delinsTT |
p.S396F |
Missense |
9/10 |
- |
1 |
7-44185162-CT-AC |
c.1186_1187delinsGT |
p.S396V |
Missense |
9/10 |
- |
1 |
7-44185162-CT-AG |
c.1186_1187inv |
p.S396L |
Missense |
9/10 |
- |
1 |
7-44185162-CT-GC |
c.1186_1187delinsGC |
p.S396A |
Missense |
9/10 |
- |
1 |
7-44185162-CT-GG |
c.1186_1187delinsCC |
p.S396P |
Missense |
9/10 |
- |
1 |
7-44185162-CT-TA |
c.1186_1187delinsTA |
p.S396Y |
Missense |
9/10 |
- |
1 |
7-44185162-CT-TC |
c.1186_1187delinsGA |
p.S396D |
Missense |
9/10 |
- |
1 |
7-44185162-CT-TG |
c.1186_1187delinsCA |
p.S396H |
Missense |
9/10 |
- |
1 |
7-44185163-T-A |
c.1186A>T |
p.S396C |
Missense |
9/10 |
- |
1 |
7-44185163-T-C |
c.1186A>G |
p.S396G |
Missense |
9/10 |
- |
2 |
7-44185164-C-A |
c.1185G>T |
p.E395D |
Missense |
9/10 |
- |
3 |
7-44185164-C-G |
c.1185G>C |
p.E395D |
Missense |
9/10 |
- |
4 |
7-44185164-C-T |
c.1185G>A |
p.E395= |
Synonymous |
9/10 |
- |
1 |
7-44185164-CTC-AAA |
c.1183_1185delinsTTT |
p.E395F |
Missense |
9/10 |
- |
1 |
7-44185164-CTC-ACA |
c.1183_1185delinsTGT |
p.E395C |
Missense |
9/10 |
- |
1 |
7-44185164-CTC-ATA |
c.1183_1185delinsTAT |
p.E395Y |
Missense |
9/10 |
- |
1 |
7-44185164-CTC-ATG |
c.1183_1185delinsCAT |
p.E395H |
Missense |
9/10 |
- |
1 |
7-44185164-CTC-GAT |
c.1183_1185delinsATC |
p.E395I |
Missense |
9/10 |
- |
1 |
7-44185164-CTC-GTT |
c.1183_1185delinsAAC |
p.E395N |
Missense |
9/10 |
- |
1 |
7-44185165-T-A |
c.1184A>T |
p.E395V |
Missense |
9/10 |
- |
1 |
7-44185165-T-C |
c.1184A>G |
p.E395G |
Missense |
9/10 |
- |
2 |
7-44185165-TC-AG |
c.1183_1184delinsCT |
p.E395L |
Missense |
9/10 |
- |
1 |
7-44185165-TC-AT |
c.1183_1184delinsAT |
p.E395M |
Missense |
9/10 |
- |
1 |
7-44185165-TC-CA |
c.1183_1184delinsTG |
p.E395W |
Missense |
9/10 |
- |
1 |
7-44185165-TC-CT |
c.1183_1184delinsAG |
p.E395R |
Missense |
9/10 |
- |
1 |
7-44185165-TC-GA |
c.1183_1184inv |
p.E395S |
Missense |
9/10 |
- |
1 |
7-44185165-TC-GG |
c.1183_1184delinsCC |
p.E395P |
Missense |
9/10 |
- |
1 |
7-44185165-TC-GT |
c.1183_1184delinsAC |
p.E395T |
Missense |
9/10 |
- |
1 |
7-44185165-T-G |
c.1184A>C |
p.E395A |
Missense |
9/10 |
- |
1 |
7-44185166-C-A |
c.1183G>T |
p.E395* |
Nonsense |
9/10 |
- |
5 |
7-44185166-C-G |
c.1183G>C |
p.E395Q |
Missense |
9/10 |
- |
3 |
7-44185166-C-T |
c.1183G>A |
p.E395K |
Missense |
9/10 |
- |
1 |
7-44185167-GCG-CAT |
c.1180_1182delinsATG |
p.R394M |
Missense |
9/10 |
- |
1 |
7-44185167-GCG-CCA |
c.1180_1182delinsTGG |
p.R394W |
Missense |
9/10 |
- |
1 |
7-44185167-GCG-CTC |
c.1180_1182delinsGAG |
p.R394E |
Missense |
9/10 |
- |
1 |
7-44185167-GCG-CTT |
c.1180_1182delinsAAG |
p.R394K |
Missense |
9/10 |
- |
1 |
7-44185167-GC-TT |
c.1181_1182delinsAA |
p.R394Q |
Missense |
9/10 |
- |
1 |
7-44185168-C-A |
c.1181G>T |
p.R394L |
Missense |
9/10 |
- |
1 |
7-44185168-C-G |
c.1181G>C |
p.R394P |
Missense |
9/10 |
- |
2 |
7-44185168-CG-AA |
c.1180_1181delinsTT |
p.R394F |
Missense |
9/10 |
- |
1 |
7-44185168-CG-AC |
c.1180_1181delinsGT |
p.R394V |
Missense |
9/10 |
- |
1 |
7-44185168-CG-AT |
c.1180_1181delinsAT |
p.R394I |
Missense |
9/10 |
- |
1 |
7-44185168-CG-GC |
c.1180_1181delinsGC |
p.R394A |
Missense |
9/10 |
- |
1 |
7-44185168-CG-GT |
c.1180_1181delinsAC |
p.R394T |
Missense |
9/10 |
- |
1 |
7-44185168-CG-TA |
c.1180_1181delinsTA |
p.R394Y |
Missense |
9/10 |
- |
1 |
7-44185168-CG-TC |
c.1180_1181delinsGA |
p.R394D |
Missense |
9/10 |
- |
1 |
7-44185168-CG-TT |
c.1180_1181delinsAA |
p.R394N |
Missense |
9/10 |
- |
1 |
7-44185168-C-T |
c.1181G>A |
p.R394H |
Missense |
9/10 |
- |
2 |
7-44185169-G-A |
c.1180C>T |
p.R394C |
Missense |
9/10 |
- |
1 |
7-44185169-G-C |
c.1180C>G |
p.R394G |
Missense |
9/10 |
- |
1 |
7-44185169-G-T |
c.1180C>A |
p.R394S |
Missense |
9/10 |
- |
1 |
7-44185170-C-A |
c.1179G>T |
p.M393I |
Missense |
9/10 |
- |
1 |
7-44185170-CA-GC |
c.1178_1179delinsGC |
p.M393S |
Missense |
9/10 |
- |
1 |
7-44185170-CA-GT |
c.1178_1179delinsAC |
p.M393N |
Missense |
9/10 |
- |
1 |
7-44185170-CAT-AAA |
c.1177_1179delinsTTT |
p.M393F |
Missense |
9/10 |
- |
1 |
7-44185170-CAT-ACA |
c.1177_1179delinsTGT |
p.M393C |
Missense |
9/10 |
- |
1 |
7-44185170-CAT-ATA |
c.1177_1179delinsTAT |
p.M393Y |
Missense |
9/10 |
- |
1 |
7-44185170-CAT-ATG |
c.1177_1179inv |
p.M393H |
Missense |
9/10 |
- |
1 |
7-44185170-CAT-GTC |
c.1177_1179delinsGAC |
p.M393D |
Missense |
9/10 |
- |
1 |
7-44185170-C-G |
c.1179G>C |
p.M393I |
Missense |
9/10 |
- |
1 |
7-44185170-C-T |
c.1179G>A |
p.M393I |
Missense |
9/10 |
- |
1 |
7-44185171-A-C |
c.1178T>G |
p.M393R |
Missense |
9/10 |
- |
1 |
7-44185171-A-G |
c.1178T>C |
p.M393T |
Missense |
9/10 |
- |
7 |
7-44185171-A-T |
c.1178T>A |
p.M393K |
Missense |
9/10 |
- |
2 |
7-44185171-AT-CA |
c.1177_1178delinsTG |
p.M393W |
Missense |
9/10 |
- |
1 |
7-44185171-AT-CC |
c.1177_1178delinsGG |
p.M393G |
Missense |
9/10 |
- |
1 |
7-44185171-AT-GC |
c.1177_1178delinsGC |
p.M393A |
Missense |
9/10 |
- |
1 |
7-44185171-AT-GG |
c.1177_1178delinsCC |
p.M393P |
Missense |
9/10 |
- |
1 |
7-44185171-AT-TC |
c.1177_1178delinsGA |
p.M393E |
Missense |
9/10 |
- |
1 |
7-44185171-AT-TG |
c.1177_1178delinsCA |
p.M393Q |
Missense |
9/10 |
- |
1 |
7-44185172-T-A |
c.1177A>T |
p.M393L |
Missense |
9/10 |
- |
1 |
7-44185172-T-C |
c.1177A>G |
p.M393V |
Missense |
9/10 |
- |
1 |
7-44185172-T-G |
c.1177A>C |
p.M393L |
Missense |
9/10 |
- |
1 |
7-44185173-G-A |
c.1176C>T |
p.R392= |
Synonymous |
9/10 |
- |
3 |
7-44185173-GCG-CAT |
c.1174_1176delinsATG |
p.R392M |
Missense |
9/10 |
- |
1 |
7-44185173-GCG-CCA |
c.1174_1176delinsTGG |
p.R392W |
Missense |
9/10 |
- |
2 |
7-44185173-GCG-CTC |
c.1174_1176delinsGAG |
p.R392E |
Missense |
9/10 |
- |
1 |
7-44185173-GCG-CTT |
c.1174_1176delinsAAG |
p.R392K |
Missense |
9/10 |
- |
1 |
7-44185173-GC-TT |
c.1175_1176delinsAA |
p.R392Q |
Missense |
9/10 |
- |
1 |
7-44185174-C-A |
c.1175G>T |
p.R392L |
Missense |
9/10 |
- |
6 |
7-44185174-C-G |
c.1175G>C |
p.R392P |
Missense |
9/10 |
- |
3 |
7-44185174-CG-AA |
c.1174_1175delinsTT |
p.R392F |
Missense |
9/10 |
- |
1 |
7-44185174-CG-AC |
c.1174_1175delinsGT |
p.R392V |
Missense |
9/10 |
- |
1 |
7-44185174-CG-AT |
c.1174_1175delinsAT |
p.R392I |
Missense |
9/10 |
- |
1 |
7-44185174-CG-GC |
c.1174_1175delinsGC |
p.R392A |
Missense |
9/10 |
- |
1 |
7-44185174-CG-GT |
c.1174_1175delinsAC |
p.R392T |
Missense |
9/10 |
- |
1 |
7-44185174-CG-TA |
c.1174_1175delinsTA |
p.R392Y |
Missense |
9/10 |
- |
1 |
7-44185174-CG-TC |
c.1174_1175delinsGA |
p.R392D |
Missense |
9/10 |
- |
1 |
7-44185174-CG-TT |
c.1174_1175delinsAA |
p.R392N |
Missense |
9/10 |
- |
1 |
7-44185174-C-T |
c.1175G>A |
p.R392H |
Missense |
9/10 |
- |
2 |
7-44185175-CGGT-C |
c.1172_1174del |
p.N391_R392delinsS |
MultiAAMissense |
9/10 |
- |
1 |
7-44185175-G-A |
c.1174C>T |
p.R392C |
Missense |
9/10 |
- |
15 |
7-44185175-G-C |
c.1174C>G |
p.R392G |
Missense |
9/10 |
- |
4 |
7-44185175-G-T |
c.1174C>A |
p.R392S |
Missense |
9/10 |
- |
3 |
7-44185176-G-C |
c.1173C>G |
p.N391K |
Missense |
9/10 |
- |
2 |
7-44185176-G-T |
c.1173C>A |
p.N391K |
Missense |
9/10 |
- |
5 |
7-44185176-GT-CA |
c.1172_1173delinsTG |
p.N391M |
Missense |
9/10 |
- |
1 |
7-44185176-GT-CC |
c.1172_1173delinsGG |
p.N391R |
Missense |
9/10 |
- |
1 |
7-44185176-GTT-CCA |
c.1171_1173delinsTGG |
p.N391W |
Missense |
9/10 |
- |
1 |
7-44185176-GTT-CTC |
c.1171_1173delinsGAG |
p.N391E |
Missense |
9/10 |
- |
1 |
7-44185176-GTT-TTG |
c.1171_1173delinsCAA |
p.N391Q |
Missense |
9/10 |
- |
1 |
7-44185177-T-A |
c.1172A>T |
p.N391I |
Missense |
9/10 |
- |
1 |
7-44185177-T-C |
c.1172A>G |
p.N391S |
Missense |
9/10 |
- |
1 |
7-44185177-T-G |
c.1172A>C |
p.N391T |
Missense |
9/10 |
- |
1 |
7-44185177-TT-AA |
c.1171_1172inv |
p.N391F |
Missense |
9/10 |
- |
1 |
7-44185177-TT-AC |
c.1171_1172delinsGT |
p.N391V |
Missense |
9/10 |
- |
1 |
7-44185177-TT-AG |
c.1171_1172delinsCT |
p.N391L |
Missense |
9/10 |
- |
1 |
7-44185177-TT-CA |
c.1171_1172delinsTG |
p.N391C |
Missense |
9/10 |
- |
1 |
7-44185177-TT-CC |
c.1171_1172delinsGG |
p.N391G |
Missense |
9/10 |
- |
1 |
7-44185177-TT-GC |
c.1171_1172delinsGC |
p.N391A |
Missense |
9/10 |
- |
1 |
7-44185177-TT-GG |
c.1171_1172delinsCC |
p.N391P |
Missense |
9/10 |
- |
1 |
7-44185178-T-A |
c.1171A>T |
p.N391Y |
Missense |
9/10 |
- |
1 |
7-44185178-T-C |
c.1171A>G |
p.N391D |
Missense |
9/10 |
- |
2 |
7-44185178-T-G |
c.1171A>C |
p.N391H |
Missense |
9/10 |
- |
1 |
7-44185179-GA-CC |
c.1169_1170delinsGG |
p.I390R |
Missense |
9/10 |
- |
1 |
7-44185179-GA-CT |
c.1169_1170delinsAG |
p.I390K |
Missense |
9/10 |
- |
1 |
7-44185179-GAT-CCA |
c.1168_1170delinsTGG |
p.I390W |
Missense |
9/10 |
- |
1 |
7-44185179-GAT-CTC |
c.1168_1170delinsGAG |
p.I390E |
Missense |
9/10 |
- |
1 |
7-44185179-GAT-TTG |
c.1168_1170delinsCAA |
p.I390Q |
Missense |
9/10 |
- |
1 |
7-44185179-G-C |
c.1170C>G |
p.I390M |
Missense |
9/10 |
- |
1 |
7-44185180-A-C |
c.1169T>G |
p.I390S |
Missense |
9/10 |
- |
1 |
7-44185180-A-G |
c.1169T>C |
p.I390T |
Missense |
9/10 |
- |
4 |
7-44185180-A-T |
c.1169T>A |
p.I390N |
Missense |
9/10 |
- |
4 |
7-44185180-AT-CA |
c.1168_1169delinsTG |
p.I390C |
Missense |
9/10 |
- |
1 |
7-44185180-AT-CC |
c.1168_1169delinsGG |
p.I390G |
Missense |
9/10 |
- |
1 |
7-44185180-AT-GC |
c.1168_1169delinsGC |
p.I390A |
Missense |
9/10 |
- |
1 |
7-44185180-AT-GG |
c.1168_1169delinsCC |
p.I390P |
Missense |
9/10 |
- |
1 |
7-44185180-AT-TA |
c.1168_1169delinsTA |
p.I390Y |
Missense |
9/10 |
- |
1 |
7-44185180-AT-TC |
c.1168_1169delinsGA |
p.I390D |
Missense |
9/10 |
- |
1 |
7-44185180-AT-TG |
c.1168_1169delinsCA |
p.I390H |
Missense |
9/10 |
- |
1 |
7-44185177-TTGA-T |
c.1169_1171del |
p.I390del |
InFrameDeletion |
9/10 |
- |
1 |
7-44185181-T-A |
c.1168A>T |
p.I390F |
Missense |
9/10 |
- |
1 |
7-44185181-T-C |
c.1168A>G |
p.I390V |
Missense |
9/10 |
- |
2 |
7-44185181-T-G |
c.1168A>C |
p.I390L |
Missense |
9/10 |
- |
1 |
7-44185182-GAC-CAT |
c.1165_1167delinsATG |
p.V389M |
Missense |
9/10 |
- |
1 |
7-44185182-GAC-CCA |
c.1165_1167delinsTGG |
p.V389W |
Missense |
9/10 |
- |
1 |
7-44185182-GAC-CTT |
c.1165_1167delinsAAG |
p.V389K |
Missense |
9/10 |
- |
1 |
7-44185182-GA-CT |
c.1166_1167delinsAG |
p.V389E |
Missense |
9/10 |
- |
1 |
7-44185182-GAC-TTG |
c.1165_1167delinsCAA |
p.V389Q |
Missense |
9/10 |
- |
1 |
7-44185183-A-C |
c.1166T>G |
p.V389G |
Missense |
9/10 |
- |
1 |
7-44185183-AC-CA |
c.1165_1166delinsTG |
p.V389C |
Missense |
9/10 |
- |
3 |
7-44185183-AC-CG |
c.1165_1166delinsCG |
p.V389R |
Missense |
9/10 |
- |
3 |
7-44185183-AC-CT |
c.1165_1166delinsAG |
p.V389S |
Missense |
9/10 |
- |
2 |
7-44185183-AC-GG |
c.1165_1166delinsCC |
p.V389P |
Missense |
9/10 |
- |
2 |
7-44185183-AC-GT |
c.1165_1166inv |
p.V389T |
Missense |
9/10 |
- |
1 |
7-44185183-AC-TA |
c.1165_1166delinsTA |
p.V389Y |
Missense |
9/10 |
- |
1 |
7-44185183-AC-TG |
c.1165_1166delinsCA |
p.V389H |
Missense |
9/10 |
- |
1 |
7-44185183-AC-TT |
c.1165_1166delinsAA |
p.V389N |
Missense |
9/10 |
- |
1 |
7-44185183-A-G |
c.1166T>C |
p.V389A |
Missense |
9/10 |
- |
1 |
7-44185183-A-T |
c.1166T>A |
p.V389D |
Missense |
9/10 |
- |
3 |
7-44185184-C-A |
c.1165G>T |
p.V389F |
Missense |
9/10 |
- |
1 |
7-44185184-C-G |
c.1165G>C |
p.V389L |
Missense |
9/10 |
- |
10 |
7-44185184-C-T |
c.1165G>A |
p.V389I |
Missense |
9/10 |
- |
3 |
7-44185185-GCC-CAT |
c.1162_1164delinsATG |
p.G388M |
Missense |
9/10 |
- |
1 |
7-44185185-GCC-CCA |
c.1162_1164delinsTGG |
p.G388W |
Missense |
9/10 |
- |
1 |
7-44185185-GCC-CTT |
c.1162_1164delinsAAG |
p.G388K |
Missense |
9/10 |
- |
1 |
7-44185185-GC-CT |
c.1163_1164delinsAG |
p.G388E |
Missense |
9/10 |
- |
1 |
7-44185185-GCC-TTG |
c.1162_1164delinsCAA |
p.G388Q |
Missense |
9/10 |
- |
1 |
7-44185186-C-A |
c.1163G>T |
p.G388V |
Missense |
9/10 |
- |
1 |
7-44185186-CC-AA |
c.1162_1163delinsTT |
p.G388F |
Missense |
9/10 |
- |
1 |
7-44185186-CC-AG |
c.1162_1163delinsCT |
p.G388L |
Missense |
9/10 |
- |
1 |
7-44185186-CC-AT |
c.1162_1163delinsAT |
p.G388I |
Missense |
9/10 |
- |
1 |
7-44185186-CC-GG |
c.1162_1163inv |
p.G388P |
Missense |
9/10 |
- |
1 |
7-44185186-CC-GT |
c.1162_1163delinsAC |
p.G388T |
Missense |
9/10 |
- |
1 |
7-44185186-CC-TA |
c.1162_1163delinsTA |
p.G388Y |
Missense |
9/10 |
- |
1 |
7-44185186-CC-TG |
c.1162_1163delinsCA |
p.G388H |
Missense |
9/10 |
- |
1 |
7-44185186-CC-TT |
c.1162_1163delinsAA |
p.G388N |
Missense |
9/10 |
- |
1 |
7-44185186-C-G |
c.1163G>C |
p.G388A |
Missense |
9/10 |
- |
1 |
7-44185186-C-T |
c.1163G>A |
p.G388D |
Missense |
9/10 |
- |
3 |
7-44185187-C-A |
c.1162G>T |
p.G388C |
Missense |
9/10 |
- |
1 |
7-44185187-C-G |
c.1162G>C |
p.G388R |
Missense |
9/10 |
- |
1 |
7-44185187-C-T |
c.1162G>A |
p.G388S |
Missense |
9/10 |
- |
1 |
7-44185188-C-A |
c.1161G>T |
p.A387= |
Synonymous |
9/10 |
- |
1 |
7-44185188-C-G |
c.1161G>C |
p.A387= |
Synonymous |
9/10 |
- |
1 |
7-44185188-CGC-AAA |
c.1159_1161delinsTTT |
p.A387F |
Missense |
9/10 |
- |
1 |
7-44185188-CGC-ACA |
c.1159_1161delinsTGT |
p.A387C |
Missense |
9/10 |
- |
1 |
7-44185188-CGC-ATA |
c.1159_1161delinsTAT |
p.A387Y |
Missense |
9/10 |
- |
1 |
7-44185188-CGC-ATG |
c.1159_1161delinsCAT |
p.A387H |
Missense |
9/10 |
- |
1 |
7-44185188-CGC-GAT |
c.1159_1161delinsATC |
p.A387I |
Missense |
9/10 |
- |
1 |
7-44185188-CGC-GTT |
c.1159_1161delinsAAC |
p.A387N |
Missense |
9/10 |
- |
1 |
7-44185188-CG-GT |
c.1160_1161delinsAC |
p.A387D |
Missense |
9/10 |
- |
1 |
7-44185188-C-T |
c.1161G>A |
p.A387= |
Synonymous |
9/10 |
- |
1 |
7-44185189-G-A |
c.1160C>T |
p.A387V |
Missense |
9/10 |
- |
8 |
7-44185189-G-C |
c.1160C>G |
p.A387G |
Missense |
9/10 |
- |
1 |
7-44185189-GC-AG |
c.1159_1160delinsCT |
p.A387L |
Missense |
9/10 |
- |
1 |
7-44185189-GC-AT |
c.1159_1160delinsAT |
p.A387M |
Missense |
9/10 |
- |
1 |
7-44185189-GC-CA |
c.1159_1160delinsTG |
p.A387W |
Missense |
9/10 |
- |
1 |
7-44185189-GC-CT |
c.1159_1160delinsAG |
p.A387R |
Missense |
9/10 |
- |
1 |
7-44185189-GC-TG |
c.1159_1160delinsCA |
p.A387Q |
Missense |
9/10 |
- |
1 |
7-44185189-GC-TT |
c.1159_1160delinsAA |
p.A387K |
Missense |
9/10 |
- |
1 |
7-44185189-G-T |
c.1160C>A |
p.A387E |
Missense |
9/10 |
- |
5 |
7-44185190-C-A |
c.1159G>T |
p.A387S |
Missense |
9/10 |
- |
1 |
7-44185190-C-G |
c.1159G>C |
p.A387P |
Missense |
9/10 |
- |
1 |
7-44185190-C-T |
c.1159G>A |
p.A387T |
Missense |
9/10 |
- |
3 |
7-44185191-CA-AT |
c.1157_1158delinsAT |
p.L386H |
Missense |
9/10 |
- |
1 |
7-44185191-CAG-AAA |
c.1156_1158delinsTTT |
p.L386F |
Missense |
9/10 |
- |
1 |
7-44185191-CAG-ACA |
c.1156_1158delinsTGT |
p.L386C |
Missense |
9/10 |
- |
1 |
7-44185191-CAG-ATA |
c.1156_1158delinsTAT |
p.L386Y |
Missense |
9/10 |
- |
1 |
7-44185191-CAG-GAT |
c.1156_1158delinsATC |
p.L386I |
Missense |
9/10 |
- |
1 |
7-44185191-CAG-GTC |
c.1156_1158delinsGAC |
p.L386D |
Missense |
9/10 |
- |
1 |
7-44185191-CAG-GTT |
c.1156_1158delinsAAC |
p.L386N |
Missense |
9/10 |
- |
1 |
7-44185192-A-C |
c.1157T>G |
p.L386R |
Missense |
9/10 |
- |
1 |
7-44185192-A-G |
c.1157T>C |
p.L386P |
Missense |
9/10 |
- |
4 |
7-44185192-AG-CA |
c.1156_1157delinsTG |
p.L386W |
Missense |
9/10 |
- |
1 |
7-44185192-AG-CC |
c.1156_1157delinsGG |
p.L386G |
Missense |
9/10 |
- |
1 |
7-44185192-AG-GA |
c.1156_1157delinsTC |
p.L386S |
Missense |
9/10 |
- |
1 |
7-44185192-AG-GC |
c.1156_1157delinsGC |
p.L386A |
Missense |
9/10 |
- |
1 |
7-44185192-AG-GT |
c.1156_1157delinsAC |
p.L386T |
Missense |
9/10 |
- |
1 |
7-44185192-AG-TC |
c.1156_1157delinsGA |
p.L386E |
Missense |
9/10 |
- |
1 |
7-44185192-AG-TT |
c.1156_1157delinsAA |
p.L386K |
Missense |
9/10 |
- |
1 |
7-44185192-A-T |
c.1157T>A |
p.L386Q |
Missense |
9/10 |
- |
1 |
7-44185193-AG-A |
c.1156del |
p.L386Wfs*16 |
Frameshift |
9/10 |
- |
2 |
7-44185193-G-C |
c.1156C>G |
p.L386V |
Missense |
9/10 |
- |
3 |
7-44185193-G-T |
c.1156C>A |
p.L386M |
Missense |
9/10 |
- |
1 |
7-44185194-CCC-AAA |
c.1153_1155delinsTTT |
p.G385F |
Missense |
9/10 |
- |
1 |
7-44185194-CCC-ACA |
c.1153_1155delinsTGT |
p.G385C |
Missense |
9/10 |
- |
1 |
7-44185194-CCC-ATA |
c.1153_1155delinsTAT |
p.G385Y |
Missense |
9/10 |
- |
1 |
7-44185194-CCC-ATG |
c.1153_1155delinsCAT |
p.G385H |
Missense |
9/10 |
- |
1 |
7-44185194-CCC-GAT |
c.1153_1155delinsATC |
p.G385I |
Missense |
9/10 |
- |
1 |
7-44185194-CCC-GCT |
c.1153_1155delinsAGC |
p.G385S |
Missense |
9/10 |
- |
1 |
7-44185194-CCC-GTT |
c.1153_1155delinsAAC |
p.G385N |
Missense |
9/10 |
- |
1 |
7-44185194-CC-GT |
c.1154_1155delinsAC |
p.G385D |
Missense |
9/10 |
- |
1 |
7-44185195-C-A |
c.1154G>T |
p.G385V |
Missense |
9/10 |
- |
6 |
7-44185195-CC-AG |
c.1153_1154delinsCT |
p.G385L |
Missense |
9/10 |
- |
1 |
7-44185195-CC-AT |
c.1153_1154delinsAT |
p.G385M |
Missense |
9/10 |
- |
1 |
7-44185195-CC-GG |
c.1153_1154inv |
p.G385P |
Missense |
9/10 |
- |
1 |
7-44185195-CC-GT |
c.1153_1154delinsAC |
p.G385T |
Missense |
9/10 |
- |
1 |
7-44185195-CC-TG |
c.1153_1154delinsCA |
p.G385Q |
Missense |
9/10 |
- |
1 |
7-44185195-CC-TT |
c.1153_1154delinsAA |
p.G385K |
Missense |
9/10 |
- |
1 |
7-44185195-C-G |
c.1154G>C |
p.G385A |
Missense |
9/10 |
- |
1 |
7-44185195-C-T |
c.1154G>A |
p.G385E |
Missense |
9/10 |
- |
1 |
7-44185196-C-A |
c.1153G>T |
p.G385W |
Missense |
9/10 |
- |
2 |
7-44185196-C-G |
c.1153G>C |
p.G385R |
Missense |
9/10 |
- |
4 |
7-44185196-C-T |
c.1153G>A |
p.G385R |
Missense |
9/10 |
- |
6 |
7-44185193-GC-G |
c.1155del |
p.L386Wfs*16 |
Frameshift |
9/10 |
- |
1 |
7-44185197-C-A |
c.1152G>T |
p.A384= |
Synonymous |
9/10 |
- |
1 |
7-44185197-CGC-AAA |
c.1150_1152delinsTTT |
p.A384F |
Missense |
9/10 |
- |
1 |
7-44185197-CGC-ACA |
c.1150_1152delinsTGT |
p.A384C |
Missense |
9/10 |
- |
1 |
7-44185197-CGC-ATA |
c.1150_1152delinsTAT |
p.A384Y |
Missense |
9/10 |
- |
1 |
7-44185197-CGC-ATG |
c.1150_1152delinsCAT |
p.A384H |
Missense |
9/10 |
- |
1 |
7-44185197-CGC-GAT |
c.1150_1152delinsATC |
p.A384I |
Missense |
9/10 |
- |
1 |
7-44185197-CGC-GTT |
c.1150_1152delinsAAC |
p.A384N |
Missense |
9/10 |
- |
1 |
7-44185197-CG-GT |
c.1151_1152delinsAC |
p.A384D |
Missense |
9/10 |
- |
1 |
7-44185198-G-A |
c.1151C>T |
p.A384V |
Missense |
9/10 |
- |
6 |
7-44185198-G-C |
c.1151C>G |
p.A384G |
Missense |
9/10 |
- |
2 |
7-44185198-GC-AG |
c.1150_1151delinsCT |
p.A384L |
Missense |
9/10 |
- |
1 |
7-44185198-GC-AT |
c.1150_1151delinsAT |
p.A384M |
Missense |
9/10 |
- |
1 |
7-44185198-GC-CA |
c.1150_1151delinsTG |
p.A384W |
Missense |
9/10 |
- |
1 |
7-44185198-GC-CT |
c.1150_1151delinsAG |
p.A384R |
Missense |
9/10 |
- |
1 |
7-44185198-GC-TG |
c.1150_1151delinsCA |
p.A384Q |
Missense |
9/10 |
- |
1 |
7-44185198-GC-TT |
c.1150_1151delinsAA |
p.A384K |
Missense |
9/10 |
- |
1 |
7-44185198-G-T |
c.1151C>A |
p.A384E |
Missense |
9/10 |
- |
3 |
7-44185199-C-A |
c.1150G>T |
p.A384S |
Missense |
9/10 |
- |
1 |
7-44185199-C-G |
c.1150G>C |
p.A384P |
Missense |
9/10 |
- |
1 |
7-44185199-C-T |
c.1150G>A |
p.A384T |
Missense |
9/10 |
- |
6 |
7-44185200-CG-AA |
c.1148_1149delinsTT |
p.S383F |
Missense |
9/10 |
- |
1 |
7-44185200-CGA-ATG |
c.1147_1149delinsCAT |
p.S383H |
Missense |
9/10 |
- |
1 |
7-44185200-CG-AC |
c.1148_1149delinsGT |
p.S383C |
Missense |
9/10 |
- |
1 |
7-44185200-CGA-GAT |
c.1147_1149delinsATC |
p.S383I |
Missense |
9/10 |
- |
1 |
7-44185200-CGA-GTC |
c.1147_1149delinsGAC |
p.S383D |
Missense |
9/10 |
- |
2 |
7-44185200-CGA-GTT |
c.1147_1149delinsAAC |
p.S383N |
Missense |
9/10 |
- |
1 |
7-44185200-CG-AT |
c.1148_1149delinsAT |
p.S383Y |
Missense |
9/10 |
- |
1 |
7-44185201-G-A |
c.1148C>T |
p.S383L |
Missense |
9/10 |
- |
15 |
7-44185201-GA-AC |
c.1147_1148delinsGT |
p.S383V |
Missense |
9/10 |
- |
1 |
7-44185201-GA-AT |
c.1147_1148delinsAT |
p.S383M |
Missense |
9/10 |
- |
1 |
7-44185201-GA-CC |
c.1147_1148delinsGG |
p.S383G |
Missense |
9/10 |
- |
1 |
7-44185201-GA-CT |
c.1147_1148delinsAG |
p.S383R |
Missense |
9/10 |
- |
1 |
7-44185201-GA-TC |
c.1147_1148inv |
p.S383E |
Missense |
9/10 |
- |
1 |
7-44185201-GA-TG |
c.1147_1148delinsCA |
p.S383Q |
Missense |
9/10 |
- |
1 |
7-44185201-GA-TT |
c.1147_1148delinsAA |
p.S383K |
Missense |
9/10 |
- |
1 |
7-44185201-G-C |
c.1148C>G |
p.S383W |
Missense |
9/10 |
- |
1 |
7-44185201-G-T |
c.1148C>A |
p.S383* |
Nonsense |
9/10 |
- |
2 |
7-44185202-A-C |
c.1147T>G |
p.S383A |
Missense |
9/10 |
- |
1 |
7-44185202-A-G |
c.1147T>C |
p.S383P |
Missense |
9/10 |
- |
4 |
7-44185202-A-T |
c.1147T>A |
p.S383T |
Missense |
9/10 |
- |
2 |
7-44185203-G-C |
c.1146C>G |
p.C382W |
Missense |
9/10 |
- |
1 |
7-44185203-GCA-CAT |
c.1144_1146delinsATG |
p.C382M |
Missense |
9/10 |
- |
1 |
7-44185203-GCA-CTC |
c.1144_1146delinsGAG |
p.C382E |
Missense |
9/10 |
- |
1 |
7-44185203-GCA-CTT |
c.1144_1146delinsAAG |
p.C382K |
Missense |
9/10 |
- |
1 |
7-44185203-GCA-TTG |
c.1144_1146delinsCAA |
p.C382Q |
Missense |
9/10 |
- |
1 |
7-44185204-C-A |
c.1145G>T |
p.C382F |
Missense |
9/10 |
- |
1 |
7-44185204-CA-AC |
c.1144_1145delinsGT |
p.C382V |
Missense |
9/10 |
- |
1 |
7-44185204-CA-AG |
c.1144_1145delinsCT |
p.C382L |
Missense |
9/10 |
- |
1 |
7-44185204-CA-AT |
c.1144_1145delinsAT |
p.C382I |
Missense |
9/10 |
- |
1 |
7-44185204-CA-GC |
c.1144_1145delinsGC |
p.C382A |
Missense |
9/10 |
- |
1 |
7-44185204-CA-GG |
c.1144_1145delinsCC |
p.C382P |
Missense |
9/10 |
- |
1 |
7-44185204-CA-GT |
c.1144_1145delinsAC |
p.C382T |
Missense |
9/10 |
- |
1 |
7-44185204-CA-TC |
c.1144_1145delinsGA |
p.C382D |
Missense |
9/10 |
- |
1 |
7-44185204-CA-TG |
c.1144_1145inv |
p.C382H |
Missense |
9/10 |
- |
1 |
7-44185204-CA-TT |
c.1144_1145delinsAA |
p.C382N |
Missense |
9/10 |
- |
1 |
7-44185204-C-CCGAGCA |
c.1144_1145insTGCTCG |
p.C382delinsLLG |
MultiAAMissense |
9/10 |
- |
1 |
7-44185204-C-T |
c.1145G>A |
p.C382Y |
Missense |
9/10 |
- |
7 |
7-44185204-C-G |
c.1145G>C |
p.C382S |
Missense |
9/10 |
- |
1 |
7-44185205-A-C |
c.1144T>G |
p.C382G |
Missense |
9/10 |
- |
4 |
7-44185205-A-G |
c.1144T>C |
p.C382R |
Missense |
9/10 |
- |
5 |
7-44185205-A-T |
c.1144T>A |
p.C382S |
Missense |
9/10 |
- |
1 |
7-44185206-C-A |
c.1143G>T |
p.M381I |
Missense |
9/10 |
- |
1 |
7-44185206-CA-GC |
c.1142_1143delinsGC |
p.M381S |
Missense |
9/10 |
- |
1 |
7-44185206-CA-GT |
c.1142_1143delinsAC |
p.M381N |
Missense |
9/10 |
- |
1 |
7-44185206-CAT-AAA |
c.1141_1143delinsTTT |
p.M381F |
Missense |
9/10 |
- |
1 |
7-44185206-CAT-ACA |
c.1141_1143delinsTGT |
p.M381C |
Missense |
9/10 |
- |
1 |
7-44185206-CAT-ATA |
c.1141_1143delinsTAT |
p.M381Y |
Missense |
9/10 |
- |
1 |
7-44185206-CAT-ATG |
c.1141_1143inv |
p.M381H |
Missense |
9/10 |
- |
1 |
7-44185206-CAT-GTC |
c.1141_1143delinsGAC |
p.M381D |
Missense |
9/10 |
- |
1 |
7-44185206-C-G |
c.1143G>C |
p.M381I |
Missense |
9/10 |
- |
1 |
7-44185206-C-T |
c.1143G>A |
p.M381I |
Missense |
9/10 |
- |
1 |
7-44185207-A-C |
c.1142T>G |
p.M381R |
Missense |
9/10 |
- |
8 |
7-44185207-A-G |
c.1142T>C |
p.M381T |
Missense |
9/10 |
- |
3 |
7-44185207-A-T |
c.1142T>A |
p.M381K |
Missense |
9/10 |
- |
2 |
7-44185207-AT-CA |
c.1141_1142delinsTG |
p.M381W |
Missense |
9/10 |
- |
1 |
7-44185207-AT-CC |
c.1141_1142delinsGG |
p.M381G |
Missense |
9/10 |
- |
1 |
7-44185207-AT-GC |
c.1141_1142delinsGC |
p.M381A |
Missense |
9/10 |
- |
1 |
7-44185207-AT-GG |
c.1141_1142delinsCC |
p.M381P |
Missense |
9/10 |
- |
1 |
7-44185207-AT-TC |
c.1141_1142delinsGA |
p.M381E |
Missense |
9/10 |
- |
1 |
7-44185207-AT-TG |
c.1141_1142delinsCA |
p.M381Q |
Missense |
9/10 |
- |
1 |
7-44185208-T-A |
c.1141A>T |
p.M381L |
Missense |
9/10 |
- |
2 |
7-44185208-T-C |
c.1141A>G |
p.M381V |
Missense |
9/10 |
- |
1 |
7-44185208-T-G |
c.1141A>C |
p.M381L |
Missense |
9/10 |
- |
2 |
7-44185209-G-C |
c.1140C>G |
p.H380Q |
Missense |
9/10 |
- |
3 |
7-44185209-G-T |
c.1140C>A |
p.H380Q |
Missense |
9/10 |
- |
2 |
7-44185209-GTG-CAT |
c.1138_1140delinsATG |
p.H380M |
Missense |
9/10 |
- |
1 |
7-44185209-GTG-CCA |
c.1138_1140delinsTGG |
p.H380W |
Missense |
9/10 |
- |
1 |
7-44185209-GTG-CTC |
c.1138_1140delinsGAG |
p.H380E |
Missense |
9/10 |
- |
1 |
7-44185209-GTG-CTT |
c.1138_1140delinsAAG |
p.H380K |
Missense |
9/10 |
- |
1 |
7-44185210-T-A |
c.1139A>T |
p.H380L |
Missense |
9/10 |
- |
1 |
7-44185210-T-C |
c.1139A>G |
p.H380R |
Missense |
9/10 |
- |
2 |
7-44185210-T-G |
c.1139A>C |
p.H380P |
Missense |
9/10 |
- |
2 |
7-44185210-TG-AA |
c.1138_1139delinsTT |
p.H380F |
Missense |
9/10 |
- |
1 |
7-44185210-TG-AC |
c.1138_1139delinsGT |
p.H380V |
Missense |
9/10 |
- |
1 |
7-44185210-TG-AT |
c.1138_1139delinsAT |
p.H380I |
Missense |
9/10 |
- |
1 |
7-44185210-TG-CA |
c.1138_1139inv |
p.H380C |
Missense |
9/10 |
- |
1 |
7-44185210-TG-CC |
c.1138_1139delinsGG |
p.H380G |
Missense |
9/10 |
- |
1 |
7-44185210-TG-CT |
c.1138_1139delinsAG |
p.H380S |
Missense |
9/10 |
- |
1 |
7-44185210-TG-GC |
c.1138_1139delinsGC |
p.H380A |
Missense |
9/10 |
- |
1 |
7-44185210-TG-GT |
c.1138_1139delinsAC |
p.H380T |
Missense |
9/10 |
- |
1 |
7-44185211-G-A |
c.1138C>T |
p.H380Y |
Missense |
9/10 |
- |
1 |
7-44185211-G-C |
c.1138C>G |
p.H380D |
Missense |
9/10 |
- |
2 |
7-44185211-G-T |
c.1138C>A |
p.H380N |
Missense |
9/10 |
- |
1 |
7-44185212-CGC-AAA |
c.1135_1137delinsTTT |
p.A379F |
Missense |
9/10 |
- |
1 |
7-44185212-CGC-ACA |
c.1135_1137delinsTGT |
p.A379C |
Missense |
9/10 |
- |
1 |
7-44185212-CGC-ATA |
c.1135_1137delinsTAT |
p.A379Y |
Missense |
9/10 |
- |
1 |
7-44185212-CGC-ATG |
c.1135_1137delinsCAT |
p.A379H |
Missense |
9/10 |
- |
1 |
7-44185212-CGC-GAT |
c.1135_1137delinsATC |
p.A379I |
Missense |
9/10 |
- |
1 |
7-44185212-CGC-GTT |
c.1135_1137delinsAAC |
p.A379N |
Missense |
9/10 |
- |
1 |
7-44185212-CG-GT |
c.1136_1137delinsAC |
p.A379D |
Missense |
9/10 |
- |
1 |
7-44185212-GCGC-G |
c.1135_1137del |
p.A379del |
InFrameDeletion |
9/10 |
- |
1 |
7-44185213-CG-C |
c.1136del |
p.A379Gfs*23 |
Frameshift |
9/10 |
- |
1 |
7-44185213-G-A |
c.1136C>T |
p.A379V |
Missense |
9/10 |
- |
7 |
7-44185213-G-C |
c.1136C>G |
p.A379G |
Missense |
9/10 |
- |
3 |
7-44185213-GC-AG |
c.1135_1136delinsCT |
p.A379L |
Missense |
9/10 |
- |
1 |
7-44185213-GC-AT |
c.1135_1136delinsAT |
p.A379M |
Missense |
9/10 |
- |
1 |
7-44185213-GC-CA |
c.1135_1136delinsTG |
p.A379W |
Missense |
9/10 |
- |
1 |
7-44185213-GC-CT |
c.1135_1136delinsAG |
p.A379R |
Missense |
9/10 |
- |
1 |
7-44185213-GC-TG |
c.1135_1136delinsCA |
p.A379Q |
Missense |
9/10 |
- |
1 |
7-44185213-GC-TT |
c.1135_1136delinsAA |
p.A379K |
Missense |
9/10 |
- |
1 |
7-44185213-G-GT |
c.1135_1136insA |
p.A379Dfs*80 |
Frameshift |
9/10 |
- |
1 |
7-44185213-G-T |
c.1136C>A |
p.A379E |
Missense |
9/10 |
- |
9 |
7-44185210-TGCGCAGCGC-T |
c.1130_1138del |
p.R377_A379del |
InFrameDeletion |
9/10 |
- |
2 |
7-44185214-C-A |
c.1135G>T |
p.A379S |
Missense |
9/10 |
- |
1 |
7-44185214-C-G |
c.1135G>C |
p.A379P |
Missense |
9/10 |
- |
1 |
7-44185214-C-T |
c.1135G>A |
p.A379T |
Missense |
9/10 |
- |
3 |
7-44185215-AGC-CAT |
c.1132_1134delinsATG |
p.A378M |
Missense |
9/10 |
- |
1 |
7-44185215-AGC-CCA |
c.1132_1134delinsTGG |
p.A378W |
Missense |
9/10 |
- |
1 |
7-44185215-AGC-CTT |
c.1132_1134delinsAAG |
p.A378K |
Missense |
9/10 |
- |
1 |
7-44185215-AG-CT |
c.1133_1134inv |
p.A378E |
Missense |
9/10 |
- |
1 |
7-44185215-AGC-TTG |
c.1132_1134delinsCAA |
p.A378Q |
Missense |
9/10 |
- |
1 |
7-44185215-CA-C |
c.1134del |
p.A379Rfs*23 |
Frameshift |
9/10 |
- |
1 |
7-44185216-G-A |
c.1133C>T |
p.A378V |
Missense |
9/10 |
- |
7 |
7-44185216-G-C |
c.1133C>G |
p.A378G |
Missense |
9/10 |
- |
4 |
7-44185216-GC-AA |
c.1132_1133delinsTT |
p.A378F |
Missense |
9/10 |
- |
1 |
7-44185216-GC-AG |
c.1132_1133delinsCT |
p.A378L |
Missense |
9/10 |
- |
1 |
7-44185216-GC-AT |
c.1132_1133delinsAT |
p.A378I |
Missense |
9/10 |
- |
1 |
7-44185216-GC-CA |
c.1132_1133delinsTG |
p.A378C |
Missense |
9/10 |
- |
1 |
7-44185216-GC-CG |
c.1132_1133delinsCG |
p.A378R |
Missense |
9/10 |
- |
1 |
7-44185216-GC-TA |
c.1132_1133delinsTA |
p.A378Y |
Missense |
9/10 |
- |
1 |
7-44185216-GC-TG |
c.1132_1133delinsCA |
p.A378H |
Missense |
9/10 |
- |
1 |
7-44185216-GC-TT |
c.1132_1133delinsAA |
p.A378N |
Missense |
9/10 |
- |
1 |
7-44185216-G-T |
c.1133C>A |
p.A378D |
Missense |
9/10 |
- |
4 |
7-44185216-G-GCT |
c.1132_1133insAG |
p.A378Efs*25 |
Frameshift |
9/10 |
- |
1 |
7-44185217-C-A |
c.1132G>T |
p.A378S |
Missense |
9/10 |
- |
1 |
7-44185217-C-G |
c.1132G>C |
p.A378P |
Missense |
9/10 |
- |
2 |
7-44185217-C-T |
c.1132G>A |
p.A378T |
Missense |
9/10 |
- |
7 |
7-44185218-GCG-CAT |
c.1129_1131delinsATG |
p.R377M |
Missense |
9/10 |
- |
1 |
7-44185218-GCG-CCA |
c.1129_1131delinsTGG |
p.R377W |
Missense |
9/10 |
- |
1 |
7-44185218-GCG-CTC |
c.1129_1131delinsGAG |
p.R377E |
Missense |
9/10 |
- |
1 |
7-44185218-GCG-CTT |
c.1129_1131delinsAAG |
p.R377K |
Missense |
9/10 |
- |
1 |
7-44185218-GC-TT |
c.1130_1131delinsAA |
p.R377Q |
Missense |
9/10 |
- |
2 |
7-44185219-C-A |
c.1130G>T |
p.R377L |
Missense |
9/10 |
- |
4 |
7-44185219-C-G |
c.1130G>C |
p.R377P |
Missense |
9/10 |
- |
1 |
7-44185219-CG-AA |
c.1129_1130delinsTT |
p.R377F |
Missense |
9/10 |
- |
1 |
7-44185219-CG-AC |
c.1129_1130delinsGT |
p.R377V |
Missense |
9/10 |
- |
1 |
7-44185219-CG-AT |
c.1129_1130delinsAT |
p.R377I |
Missense |
9/10 |
- |
2 |
7-44185219-CG-GC |
c.1129_1130delinsGC |
p.R377A |
Missense |
9/10 |
- |
1 |
7-44185219-CG-GT |
c.1129_1130delinsAC |
p.R377T |
Missense |
9/10 |
- |
1 |
7-44185219-CG-TA |
c.1129_1130delinsTA |
p.R377Y |
Missense |
9/10 |
- |
1 |
7-44185219-CG-TC |
c.1129_1130delinsGA |
p.R377D |
Missense |
9/10 |
- |
1 |
7-44185219-CG-TT |
c.1129_1130delinsAA |
p.R377N |
Missense |
9/10 |
- |
1 |
7-44185219-C-T |
c.1130G>A |
p.R377H |
Missense |
9/10 |
- |
6 |
7-44185216-GCGCGCGTAGACA-G |
c.1121_1132del |
p.V374_R377del |
InFrameDeletion |
9/10 |
- |
2 |
7-44185220-CG-C |
c.1129del |
p.R377Afs*25 |
Frameshift |
9/10 |
- |
1 |
7-44185220-G-A |
c.1129C>T |
p.R377C |
Missense |
9/10 |
- |
5 |
7-44185220-G-C |
c.1129C>G |
p.R377G |
Missense |
9/10 |
- |
1 |
7-44185220-G-T |
c.1129C>A |
p.R377S |
Missense |
9/10 |
- |
4 |
7-44185221-C-CT |
c.1127_1128insA |
p.R377Afs*82 |
Frameshift |
9/10 |
- |
1 |
7-44185221-CG-GA |
c.1127_1128delinsTC |
p.T376I |
Missense |
9/10 |
- |
1 |
7-44185221-CG-GT |
c.1127_1128delinsAC |
p.T376N |
Missense |
9/10 |
- |
1 |
7-44185221-CGT-AAA |
c.1126_1128delinsTTT |
p.T376F |
Missense |
9/10 |
- |
1 |
7-44185221-CGT-ACA |
c.1126_1128delinsTGT |
p.T376C |
Missense |
9/10 |
- |
1 |
7-44185221-CGT-ATA |
c.1126_1128delinsTAT |
p.T376Y |
Missense |
9/10 |
- |
1 |
7-44185221-CGT-ATG |
c.1126_1128delinsCAT |
p.T376H |
Missense |
9/10 |
- |
1 |
7-44185221-CGT-GTC |
c.1126_1128delinsGAC |
p.T376D |
Missense |
9/10 |
- |
1 |
7-44185222-G-A |
c.1127C>T |
p.T376M |
Missense |
9/10 |
- |
2 |
7-44185222-G-C |
c.1127C>G |
p.T376R |
Missense |
9/10 |
- |
1 |
7-44185222-G-T |
c.1127C>A |
p.T376K |
Missense |
9/10 |
- |
1 |
7-44185222-GT-AC |
c.1126_1127inv |
p.T376V |
Missense |
9/10 |
- |
1 |
7-44185222-GT-AG |
c.1126_1127delinsCT |
p.T376L |
Missense |
9/10 |
- |
1 |
7-44185222-GT-CA |
c.1126_1127delinsTG |
p.T376W |
Missense |
9/10 |
- |
1 |
7-44185222-GT-CC |
c.1126_1127delinsGG |
p.T376G |
Missense |
9/10 |
- |
1 |
7-44185222-GT-TC |
c.1126_1127delinsGA |
p.T376E |
Missense |
9/10 |
- |
1 |
7-44185222-GT-TG |
c.1126_1127delinsCA |
p.T376Q |
Missense |
9/10 |
- |
1 |
7-44185223-T-A |
c.1126A>T |
p.T376S |
Missense |
9/10 |
- |
1 |
7-44185223-T-C |
c.1126A>G |
p.T376A |
Missense |
9/10 |
- |
1 |
7-44185223-T-G |
c.1126A>C |
p.T376P |
Missense |
9/10 |
- |
1 |
7-44185224-AGA-CAT |
c.1123_1125delinsATG |
p.S375M |
Missense |
9/10 |
- |
1 |
7-44185224-AGA-CTC |
c.1123_1125delinsGAG |
p.S375E |
Missense |
9/10 |
- |
1 |
7-44185224-AGA-CTT |
c.1123_1125delinsAAG |
p.S375K |
Missense |
9/10 |
- |
1 |
7-44185224-AGA-TTG |
c.1123_1125delinsCAA |
p.S375Q |
Missense |
9/10 |
- |
1 |
7-44185224-AG-CC |
c.1124_1125delinsGG |
p.S375W |
Missense |
9/10 |
- |
1 |
7-44185224-TAGA-T |
c.1123_1125del |
p.S375del |
InFrameDeletion |
9/10 |
- |
1 |
7-44185225-G-A |
c.1124C>T |
p.S375F |
Missense |
9/10 |
- |
6 |
7-44185225-GA-AC |
c.1123_1124delinsGT |
p.S375V |
Missense |
9/10 |
- |
1 |
7-44185225-GA-AG |
c.1123_1124delinsCT |
p.S375L |
Missense |
9/10 |
- |
1 |
7-44185225-GA-AT |
c.1123_1124delinsAT |
p.S375I |
Missense |
9/10 |
- |
1 |
7-44185225-GA-CC |
c.1123_1124delinsGG |
p.S375G |
Missense |
9/10 |
- |
1 |
7-44185225-GA-CG |
c.1123_1124delinsCG |
p.S375R |
Missense |
9/10 |
- |
1 |
7-44185225-GA-TC |
c.1123_1124inv |
p.S375D |
Missense |
9/10 |
- |
1 |
7-44185225-GA-TG |
c.1123_1124delinsCA |
p.S375H |
Missense |
9/10 |
- |
1 |
7-44185225-GA-TT |
c.1123_1124delinsAA |
p.S375N |
Missense |
9/10 |
- |
1 |
7-44185225-G-C |
c.1124C>G |
p.S375C |
Missense |
9/10 |
- |
1 |
7-44185225-G-T |
c.1124C>A |
p.S375Y |
Missense |
9/10 |
- |
1 |
7-44185226-A-C |
c.1123T>G |
p.S375A |
Missense |
9/10 |
- |
1 |
7-44185226-A-G |
c.1123T>C |
p.S375P |
Missense |
9/10 |
- |
2 |
7-44185226-A-T |
c.1123T>A |
p.S375T |
Missense |
9/10 |
- |
1 |
7-44185227-CAC-AAA |
c.1120_1122delinsTTT |
p.V374F |
Missense |
9/10 |
- |
1 |
7-44185227-CAC-ACA |
c.1120_1122delinsTGT |
p.V374C |
Missense |
9/10 |
- |
1 |
7-44185227-CAC-ATA |
c.1120_1122delinsTAT |
p.V374Y |
Missense |
9/10 |
- |
1 |
7-44185227-CAC-ATG |
c.1120_1122delinsCAT |
p.V374H |
Missense |
9/10 |
- |
1 |
7-44185227-CAC-GAT |
c.1120_1122delinsATC |
p.V374I |
Missense |
9/10 |
- |
1 |
7-44185227-CAC-GTT |
c.1120_1122delinsAAC |
p.V374N |
Missense |
9/10 |
- |
1 |
7-44185227-CA-GT |
c.1121_1122delinsAC |
p.V374D |
Missense |
9/10 |
- |
1 |
7-44185227-C-CA |
c.1121dup |
p.S375Vfs*84 |
Frameshift |
9/10 |
- |
2 |
7-44185228-A-AGTG |
c.1120_1121insCAC |
p.V374delinsAL |
MultiAAMissense |
9/10 |
- |
1 |
7-44185228-A-C |
c.1121T>G |
p.V374G |
Missense |
9/10 |
- |
1 |
7-44185228-AC-CA |
c.1120_1121delinsTG |
p.V374W |
Missense |
9/10 |
- |
1 |
7-44185228-AC-CT |
c.1120_1121delinsAG |
p.V374R |
Missense |
9/10 |
- |
1 |
7-44185228-AC-GA |
c.1120_1121delinsTC |
p.V374S |
Missense |
9/10 |
- |
1 |
7-44185228-AC-GG |
c.1120_1121delinsCC |
p.V374P |
Missense |
9/10 |
- |
1 |
7-44185228-AC-GT |
c.1120_1121inv |
p.V374T |
Missense |
9/10 |
- |
1 |
7-44185228-AC-TG |
c.1120_1121delinsCA |
p.V374Q |
Missense |
9/10 |
- |
1 |
7-44185228-AC-TT |
c.1120_1121delinsAA |
p.V374K |
Missense |
9/10 |
- |
1 |
7-44185228-A-G |
c.1121T>C |
p.V374A |
Missense |
9/10 |
- |
1 |
7-44185228-A-T |
c.1121T>A |
p.V374E |
Missense |
9/10 |
- |
2 |
7-44185229-C-A |
c.1120G>T |
p.V374L |
Missense |
9/10 |
- |
1 |
7-44185229-C-G |
c.1120G>C |
p.V374L |
Missense |
9/10 |
- |
1 |
7-44185229-C-T |
c.1120G>A |
p.V374M |
Missense |
9/10 |
- |
3 |
7-44185230-G-A |
c.1119C>T |
p.S373= |
Synonymous |
9/10 |
- |
1 |
7-44185230-G-C |
c.1119C>G |
p.S373R |
Missense |
9/10 |
- |
2 |
7-44185230-GC-CA |
c.1118_1119delinsTG |
p.S373M |
Missense |
9/10 |
- |
1 |
7-44185230-GC-CT |
c.1118_1119delinsAG |
p.S373K |
Missense |
9/10 |
- |
1 |
7-44185230-GCT-CCA |
c.1117_1119delinsTGG |
p.S373W |
Missense |
9/10 |
- |
1 |
7-44185230-GCT-CTC |
c.1117_1119delinsGAG |
p.S373E |
Missense |
9/10 |
- |
1 |
7-44185230-GCT-TTG |
c.1117_1119delinsCAA |
p.S373Q |
Missense |
9/10 |
- |
1 |
7-44185230-G-T |
c.1119C>A |
p.S373R |
Missense |
9/10 |
- |
2 |
7-44185232-T-G |
c.1117A>C |
p.S373R |
Missense |
9/10 |
- |
2 |
7-44185231-C-A |
c.1118G>T |
p.S373I |
Missense |
9/10 |
- |
1 |
7-44185231-C-CA |
c.1117_1118insT |
p.S373Mfs*86 |
Frameshift |
9/10 |
- |
1 |
7-44185231-C-G |
c.1118G>C |
p.S373T |
Missense |
9/10 |
- |
4 |
7-44185231-C-T |
c.1118G>A |
p.S373N |
Missense |
9/10 |
- |
2 |
7-44185231-CT-AA |
c.1117_1118delinsTT |
p.S373F |
Missense |
9/10 |
- |
1 |
7-44185231-CT-AC |
c.1117_1118delinsGT |
p.S373V |
Missense |
9/10 |
- |
1 |
7-44185231-CT-AG |
c.1117_1118inv |
p.S373L |
Missense |
9/10 |
- |
1 |
7-44185231-CT-GC |
c.1117_1118delinsGC |
p.S373A |
Missense |
9/10 |
- |
1 |
7-44185231-CT-GG |
c.1117_1118delinsCC |
p.S373P |
Missense |
9/10 |
- |
2 |
7-44185231-CT-TA |
c.1117_1118delinsTA |
p.S373Y |
Missense |
9/10 |
- |
1 |
7-44185231-CT-TC |
c.1117_1118delinsGA |
p.S373D |
Missense |
9/10 |
- |
1 |
7-44185231-CT-TG |
c.1117_1118delinsCA |
p.S373H |
Missense |
9/10 |
- |
1 |
7-44185232-T-A |
c.1117A>T |
p.S373C |
Missense |
9/10 |
- |
1 |
7-44185232-T-C |
c.1117A>G |
p.S373G |
Missense |
9/10 |
- |
1 |
7-44185233-C-A |
c.1116G>T |
p.E372D |
Missense |
9/10 |
- |
1 |
7-44185233-C-G |
c.1116G>C |
p.E372D |
Missense |
9/10 |
- |
2 |
7-44185233-CTC-AAA |
c.1114_1116delinsTTT |
p.E372F |
Missense |
9/10 |
- |
1 |
7-44185233-CTC-ACA |
c.1114_1116delinsTGT |
p.E372C |
Missense |
9/10 |
- |
1 |
7-44185233-CTC-ATA |
c.1114_1116delinsTAT |
p.E372Y |
Missense |
9/10 |
- |
1 |
7-44185233-CTC-ATG |
c.1114_1116delinsCAT |
p.E372H |
Missense |
9/10 |
- |
1 |
7-44185233-CTC-GAT |
c.1114_1116delinsATC |
p.E372I |
Missense |
9/10 |
- |
1 |
7-44185233-CTC-GTT |
c.1114_1116delinsAAC |
p.E372N |
Missense |
9/10 |
- |
1 |
7-44185234-T-A |
c.1115A>T |
p.E372V |
Missense |
9/10 |
- |
1 |
7-44185234-T-C |
c.1115A>G |
p.E372G |
Missense |
9/10 |
- |
1 |
7-44185234-TC-AG |
c.1114_1115delinsCT |
p.E372L |
Missense |
9/10 |
- |
1 |
7-44185234-TC-AT |
c.1114_1115delinsAT |
p.E372M |
Missense |
9/10 |
- |
1 |
7-44185234-TC-CA |
c.1114_1115delinsTG |
p.E372W |
Missense |
9/10 |
- |
1 |
7-44185234-TC-CT |
c.1114_1115delinsAG |
p.E372R |
Missense |
9/10 |
- |
1 |
7-44185234-TC-GA |
c.1114_1115inv |
p.E372S |
Missense |
9/10 |
- |
1 |
7-44185234-TC-GG |
c.1114_1115delinsCC |
p.E372P |
Missense |
9/10 |
- |
1 |
7-44185234-TC-GT |
c.1114_1115delinsAC |
p.E372T |
Missense |
9/10 |
- |
1 |
7-44185234-T-G |
c.1115A>C |
p.E372A |
Missense |
9/10 |
- |
1 |
7-44185235-C-A |
c.1114G>T |
p.E372* |
Nonsense |
9/10 |
- |
3 |
7-44185235-C-G |
c.1114G>C |
p.E372Q |
Missense |
9/10 |
- |
3 |
7-44185235-C-T |
c.1114G>A |
p.E372K |
Missense |
9/10 |
- |
2 |
7-44185234-TCG-T |
c.1113_1114del |
p.C371* |
Frameshift |
9/10 |
- |
1 |
7-44185236-G-A |
c.1113C>T |
p.C371= |
Synonymous |
9/10 |
- |
1 |
7-44185236-G-C |
c.1113C>G |
p.C371W |
Missense |
9/10 |
- |
5 |
7-44185236-GCA-CAT |
c.1111_1113delinsATG |
p.C371M |
Missense |
9/10 |
- |
1 |
7-44185236-GCA-CTC |
c.1111_1113delinsGAG |
p.C371E |
Missense |
9/10 |
- |
1 |
7-44185236-GCA-CTT |
c.1111_1113delinsAAG |
p.C371K |
Missense |
9/10 |
- |
1 |
7-44185236-GCA-TTG |
c.1111_1113delinsCAA |
p.C371Q |
Missense |
9/10 |
- |
1 |
7-44185236-G-T |
c.1113C>A |
p.C371* |
Nonsense |
9/10 |
- |
5 |
7-44185237-C-A |
c.1112G>T |
p.C371F |
Missense |
9/10 |
- |
8 |
7-44185237-CA-AC |
c.1111_1112delinsGT |
p.C371V |
Missense |
9/10 |
- |
1 |
7-44185237-CA-AG |
c.1111_1112delinsCT |
p.C371L |
Missense |
9/10 |
- |
1 |
7-44185237-CA-AT |
c.1111_1112delinsAT |
p.C371I |
Missense |
9/10 |
- |
1 |
7-44185237-CA-GC |
c.1111_1112delinsGC |
p.C371A |
Missense |
9/10 |
- |
1 |
7-44185237-CA-GG |
c.1111_1112delinsCC |
p.C371P |
Missense |
9/10 |
- |
1 |
7-44185237-CA-GT |
c.1111_1112delinsAC |
p.C371T |
Missense |
9/10 |
- |
1 |
7-44185237-CA-TC |
c.1111_1112delinsGA |
p.C371D |
Missense |
9/10 |
- |
1 |
7-44185237-CA-TG |
c.1111_1112inv |
p.C371H |
Missense |
9/10 |
- |
1 |
7-44185237-CA-TT |
c.1111_1112delinsAA |
p.C371N |
Missense |
9/10 |
- |
1 |
7-44185237-C-T |
c.1112G>A |
p.C371Y |
Missense |
9/10 |
- |
2 |
7-44185237-C-G |
c.1112G>C |
p.C371S |
Missense |
9/10 |
- |
4 |
7-44185238-A-C |
c.1111T>G |
p.C371G |
Missense |
9/10 |
- |
1 |
7-44185238-A-G |
c.1111T>C |
p.C371R |
Missense |
9/10 |
- |
2 |
7-44185238-A-T |
c.1111T>A |
p.C371S |
Missense |
9/10 |
- |
4 |
7-44185239-G-A |
c.1110C>T |
p.A370= |
Synonymous |
9/10 |
- |
1 |
7-44185239-GGC-CAT |
c.1108_1110delinsATG |
p.A370M |
Missense |
9/10 |
- |
1 |
7-44185239-GGC-CCA |
c.1108_1110delinsTGG |
p.A370W |
Missense |
9/10 |
- |
1 |
7-44185239-GGC-CTT |
c.1108_1110delinsAAG |
p.A370K |
Missense |
9/10 |
- |
1 |
7-44185239-GG-CT |
c.1109_1110delinsAG |
p.A370E |
Missense |
9/10 |
- |
1 |
7-44185239-GGC-TTG |
c.1108_1110delinsCAA |
p.A370Q |
Missense |
9/10 |
- |
1 |
7-44185240-G-A |
c.1109C>T |
p.A370V |
Missense |
9/10 |
- |
1 |
7-44185240-G-C |
c.1109C>G |
p.A370G |
Missense |
9/10 |
- |
1 |
7-44185240-GC-AA |
c.1108_1109delinsTT |
p.A370F |
Missense |
9/10 |
- |
1 |
7-44185240-GC-AG |
c.1108_1109delinsCT |
p.A370L |
Missense |
9/10 |
- |
1 |
7-44185240-GC-AT |
c.1108_1109delinsAT |
p.A370I |
Missense |
9/10 |
- |
1 |
7-44185240-GC-CA |
c.1108_1109delinsTG |
p.A370C |
Missense |
9/10 |
- |
1 |
7-44185240-GC-CG |
c.1108_1109delinsCG |
p.A370R |
Missense |
9/10 |
- |
1 |
7-44185240-GC-TA |
c.1108_1109delinsTA |
p.A370Y |
Missense |
9/10 |
- |
1 |
7-44185240-GC-TG |
c.1108_1109delinsCA |
p.A370H |
Missense |
9/10 |
- |
1 |
7-44185240-GC-TT |
c.1108_1109delinsAA |
p.A370N |
Missense |
9/10 |
- |
1 |
7-44185240-G-T |
c.1109C>A |
p.A370D |
Missense |
9/10 |
- |
1 |
7-44185241-C-A |
c.1108G>T |
p.A370S |
Missense |
9/10 |
- |
2 |
7-44185241-C-G |
c.1108G>C |
p.A370P |
Missense |
9/10 |
- |
1 |
7-44185241-C-T |
c.1108G>A |
p.A370T |
Missense |
9/10 |
- |
3 |
7-44185242-G-A |
c.1107C>T |
p.R369= |
Synonymous |
9/10 |
- |
1 |
7-44185242-GCG-CAT |
c.1105_1107delinsATG |
p.R369M |
Missense |
9/10 |
- |
1 |
7-44185242-GCG-CCA |
c.1105_1107delinsTGG |
p.R369W |
Missense |
9/10 |
- |
1 |
7-44185242-GCG-CTC |
c.1105_1107delinsGAG |
p.R369E |
Missense |
9/10 |
- |
1 |
7-44185242-GCG-CTT |
c.1105_1107delinsAAG |
p.R369K |
Missense |
9/10 |
- |
1 |
7-44185242-GC-TT |
c.1106_1107delinsAA |
p.R369Q |
Missense |
9/10 |
- |
1 |
7-44185243-C-A |
c.1106G>T |
p.R369L |
Missense |
9/10 |
- |
1 |
7-44185243-C-G |
c.1106G>C |
p.R369P |
Missense |
9/10 |
- |
4 |
7-44185243-CG-AA |
c.1105_1106delinsTT |
p.R369F |
Missense |
9/10 |
- |
1 |
7-44185243-CG-AC |
c.1105_1106delinsGT |
p.R369V |
Missense |
9/10 |
- |
1 |
7-44185243-CG-AT |
c.1105_1106delinsAT |
p.R369I |
Missense |
9/10 |
- |
1 |
7-44185243-CG-GC |
c.1105_1106delinsGC |
p.R369A |
Missense |
9/10 |
- |
1 |
7-44185243-CG-GT |
c.1105_1106delinsAC |
p.R369T |
Missense |
9/10 |
- |
1 |
7-44185243-CG-TA |
c.1105_1106delinsTA |
p.R369Y |
Missense |
9/10 |
- |
1 |
7-44185243-CG-TC |
c.1105_1106delinsGA |
p.R369D |
Missense |
9/10 |
- |
1 |
7-44185243-CG-TT |
c.1105_1106delinsAA |
p.R369N |
Missense |
9/10 |
- |
1 |
7-44185243-C-T |
c.1106G>A |
p.R369H |
Missense |
9/10 |
- |
1 |
7-44185244-G-A |
c.1105C>T |
p.R369C |
Missense |
9/10 |
- |
5 |
7-44185244-G-C |
c.1105C>G |
p.R369G |
Missense |
9/10 |
- |
1 |
7-44185244-G-T |
c.1105C>A |
p.R369S |
Missense |
9/10 |
- |
1 |
7-44185245-GCG-CAT |
c.1102_1104delinsATG |
p.R368M |
Missense |
9/10 |
- |
1 |
7-44185245-GCG-CCA |
c.1102_1104delinsTGG |
p.R368W |
Missense |
9/10 |
- |
1 |
7-44185245-GCG-CTC |
c.1102_1104delinsGAG |
p.R368E |
Missense |
9/10 |
- |
1 |
7-44185245-GCG-CTT |
c.1102_1104delinsAAG |
p.R368K |
Missense |
9/10 |
- |
1 |
7-44185245-GC-TT |
c.1103_1104delinsAA |
p.R368Q |
Missense |
9/10 |
- |
1 |
7-44185246-C-A |
c.1103G>T |
p.R368L |
Missense |
9/10 |
- |
1 |
7-44185246-C-G |
c.1103G>C |
p.R368P |
Missense |
9/10 |
- |
1 |
7-44185246-CG-AA |
c.1102_1103delinsTT |
p.R368F |
Missense |
9/10 |
- |
1 |
7-44185246-CG-AC |
c.1102_1103delinsGT |
p.R368V |
Missense |
9/10 |
- |
1 |
7-44185246-CG-AT |
c.1102_1103delinsAT |
p.R368I |
Missense |
9/10 |
- |
1 |
7-44185246-CG-GC |
c.1102_1103delinsGC |
p.R368A |
Missense |
9/10 |
- |
1 |
7-44185246-CG-GT |
c.1102_1103delinsAC |
p.R368T |
Missense |
9/10 |
- |
1 |
7-44185246-CG-TA |
c.1102_1103delinsTA |
p.R368Y |
Missense |
9/10 |
- |
1 |
7-44185246-CG-TC |
c.1102_1103delinsGA |
p.R368D |
Missense |
9/10 |
- |
1 |
7-44185246-CG-TT |
c.1102_1103delinsAA |
p.R368N |
Missense |
9/10 |
- |
1 |
7-44185246-C-T |
c.1103G>A |
p.R368H |
Missense |
9/10 |
- |
2 |
7-44185247-G-A |
c.1102C>T |
p.R368C |
Missense |
9/10 |
- |
1 |
7-44185247-G-C |
c.1102C>G |
p.R368G |
Missense |
9/10 |
- |
1 |
7-44185247-G-T |
c.1102C>A |
p.R368S |
Missense |
9/10 |
- |
1 |
7-44185248-CAC-AAA |
c.1099_1101delinsTTT |
p.V367F |
Missense |
9/10 |
- |
1 |
7-44185248-CAC-ACA |
c.1099_1101delinsTGT |
p.V367C |
Missense |
9/10 |
- |
1 |
7-44185248-CAC-ATA |
c.1099_1101delinsTAT |
p.V367Y |
Missense |
9/10 |
- |
1 |
7-44185248-CAC-ATG |
c.1099_1101delinsCAT |
p.V367H |
Missense |
9/10 |
- |
1 |
7-44185248-CAC-GAT |
c.1099_1101delinsATC |
p.V367I |
Missense |
9/10 |
- |
1 |
7-44185248-CAC-GTT |
c.1099_1101delinsAAC |
p.V367N |
Missense |
9/10 |
- |
1 |
7-44185248-CA-GT |
c.1100_1101delinsAC |
p.V367D |
Missense |
9/10 |
- |
1 |
7-44185249-A-C |
c.1100T>G |
p.V367G |
Missense |
9/10 |
- |
1 |
7-44185249-AC-CA |
c.1099_1100delinsTG |
p.V367W |
Missense |
9/10 |
- |
1 |
7-44185249-AC-CT |
c.1099_1100delinsAG |
p.V367R |
Missense |
9/10 |
- |
1 |
7-44185249-AC-GA |
c.1099_1100delinsTC |
p.V367S |
Missense |
9/10 |
- |
1 |
7-44185249-AC-GG |
c.1099_1100delinsCC |
p.V367P |
Missense |
9/10 |
- |
1 |
7-44185249-AC-GT |
c.1099_1100inv |
p.V367T |
Missense |
9/10 |
- |
1 |
7-44185249-AC-TG |
c.1099_1100delinsCA |
p.V367Q |
Missense |
9/10 |
- |
1 |
7-44185249-AC-TT |
c.1099_1100delinsAA |
p.V367K |
Missense |
9/10 |
- |
1 |
7-44185249-A-G |
c.1100T>C |
p.V367A |
Missense |
9/10 |
- |
1 |
7-44185249-A-T |
c.1100T>A |
p.V367E |
Missense |
9/10 |
- |
1 |
7-44185250-C-A |
c.1099G>T |
p.V367L |
Missense |
9/10 |
- |
1 |
7-44185250-C-G |
c.1099G>C |
p.V367L |
Missense |
9/10 |
- |
1 |
7-44185250-C-T |
c.1099G>A |
p.V367M |
Missense |
9/10 |
- |
18 |
7-44185251-G-A |
c.1098C>T |
p.I366= |
Synonymous |
9/10 |
- |
1 |
7-44185251-GA-CC |
c.1097_1098delinsGG |
p.I366R |
Missense |
9/10 |
- |
1 |
7-44185251-GA-CT |
c.1097_1098delinsAG |
p.I366K |
Missense |
9/10 |
- |
1 |
7-44185251-GAT-CCA |
c.1096_1098delinsTGG |
p.I366W |
Missense |
9/10 |
- |
1 |
7-44185251-GAT-CTC |
c.1096_1098delinsGAG |
p.I366E |
Missense |
9/10 |
- |
1 |
7-44185251-GAT-TTG |
c.1096_1098delinsCAA |
p.I366Q |
Missense |
9/10 |
- |
1 |
7-44185251-G-C |
c.1098C>G |
p.I366M |
Missense |
9/10 |
- |
1 |
7-44185251-G-T |
c.1098C>A |
p.I366= |
Synonymous |
9/10 |
- |
1 |
7-44185252-A-C |
c.1097T>G |
p.I366S |
Missense |
9/10 |
- |
1 |
7-44185252-A-G |
c.1097T>C |
p.I366T |
Missense |
9/10 |
- |
1 |
7-44185252-A-T |
c.1097T>A |
p.I366N |
Missense |
9/10 |
- |
1 |
7-44185252-AT-CA |
c.1096_1097delinsTG |
p.I366C |
Missense |
9/10 |
- |
1 |
7-44185252-AT-CC |
c.1096_1097delinsGG |
p.I366G |
Missense |
9/10 |
- |
1 |
7-44185252-AT-GC |
c.1096_1097delinsGC |
p.I366A |
Missense |
9/10 |
- |
1 |
7-44185252-AT-GG |
c.1096_1097delinsCC |
p.I366P |
Missense |
9/10 |
- |
1 |
7-44185252-AT-TA |
c.1096_1097delinsTA |
p.I366Y |
Missense |
9/10 |
- |
1 |
7-44185252-AT-TC |
c.1096_1097delinsGA |
p.I366D |
Missense |
9/10 |
- |
1 |
7-44185252-AT-TG |
c.1096_1097delinsCA |
p.I366H |
Missense |
9/10 |
- |
1 |
7-44185253-T-A |
c.1096A>T |
p.I366F |
Missense |
9/10 |
- |
3 |
7-44185253-T-C |
c.1096A>G |
p.I366V |
Missense |
9/10 |
- |
1 |
7-44185253-T-G |
c.1096A>C |
p.I366L |
Missense |
9/10 |
- |
1 |
7-44185254-G-C |
c.1095C>G |
p.D365E |
Missense |
9/10 |
- |
1 |
7-44185254-G-T |
c.1095C>A |
p.D365E |
Missense |
9/10 |
- |
1 |
7-44185254-GTC-CAT |
c.1093_1095delinsATG |
p.D365M |
Missense |
9/10 |
- |
1 |
7-44185254-GTC-CCA |
c.1093_1095delinsTGG |
p.D365W |
Missense |
9/10 |
- |
1 |
7-44185254-GTC-CTT |
c.1093_1095delinsAAG |
p.D365K |
Missense |
9/10 |
- |
1 |
7-44185254-GTC-TTG |
c.1093_1095delinsCAA |
p.D365Q |
Missense |
9/10 |
- |
1 |
7-44185255-T-A |
c.1094A>T |
p.D365V |
Missense |
9/10 |
- |
1 |
7-44185255-T-C |
c.1094A>G |
p.D365G |
Missense |
9/10 |
- |
1 |
7-44185255-TC-AA |
c.1093_1094delinsTT |
p.D365F |
Missense |
9/10 |
- |
1 |
7-44185255-TC-AG |
c.1093_1094delinsCT |
p.D365L |
Missense |
9/10 |
- |
1 |
7-44185255-TC-AT |
c.1093_1094delinsAT |
p.D365I |
Missense |
9/10 |
- |
1 |
7-44185255-TC-CA |
c.1093_1094delinsTG |
p.D365C |
Missense |
9/10 |
- |
1 |
7-44185255-TC-CG |
c.1093_1094delinsCG |
p.D365R |
Missense |
9/10 |
- |
1 |
7-44185255-TC-CT |
c.1093_1094delinsAG |
p.D365S |
Missense |
9/10 |
- |
1 |
7-44185255-TC-GG |
c.1093_1094delinsCC |
p.D365P |
Missense |
9/10 |
- |
1 |
7-44185255-TC-GT |
c.1093_1094delinsAC |
p.D365T |
Missense |
9/10 |
- |
1 |
7-44185255-T-G |
c.1094A>C |
p.D365A |
Missense |
9/10 |
- |
1 |
7-44185256-C-A |
c.1093G>T |
p.D365Y |
Missense |
9/10 |
- |
1 |
7-44185256-C-G |
c.1093G>C |
p.D365H |
Missense |
9/10 |
- |
1 |
7-44185256-C-T |
c.1093G>A |
p.D365N |
Missense |
9/10 |
- |
3 |
7-44185257-G-C |
c.1092C>G |
p.C364W |
Missense |
9/10 |
- |
2 |
7-44185257-GCA-CAT |
c.1090_1092delinsATG |
p.C364M |
Missense |
9/10 |
- |
1 |
7-44185257-GCA-CTC |
c.1090_1092delinsGAG |
p.C364E |
Missense |
9/10 |
- |
1 |
7-44185257-GCA-CTT |
c.1090_1092delinsAAG |
p.C364K |
Missense |
9/10 |
- |
1 |
7-44185257-GCA-TTG |
c.1090_1092delinsCAA |
p.C364Q |
Missense |
9/10 |
- |
1 |
7-44185257-G-T |
c.1092C>A |
p.C364* |
Nonsense |
9/10 |
- |
3 |
7-44185253-T-TGTCGCTC |
c.1095_1096insGAGCGAC |
p.I366Efs*95 |
Frameshift |
9/10 |
- |
1 |
7-44185258-C-A |
c.1091G>T |
p.C364F |
Missense |
9/10 |
- |
2 |
7-44185258-CA-AC |
c.1090_1091delinsGT |
p.C364V |
Missense |
9/10 |
- |
1 |
7-44185258-CA-AG |
c.1090_1091delinsCT |
p.C364L |
Missense |
9/10 |
- |
1 |
7-44185258-CA-AT |
c.1090_1091delinsAT |
p.C364I |
Missense |
9/10 |
- |
1 |
7-44185258-CA-GC |
c.1090_1091delinsGC |
p.C364A |
Missense |
9/10 |
- |
1 |
7-44185258-CA-GG |
c.1090_1091delinsCC |
p.C364P |
Missense |
9/10 |
- |
1 |
7-44185258-CA-GT |
c.1090_1091delinsAC |
p.C364T |
Missense |
9/10 |
- |
1 |
7-44185258-CA-TC |
c.1090_1091delinsGA |
p.C364D |
Missense |
9/10 |
- |
1 |
7-44185258-CA-TG |
c.1090_1091inv |
p.C364H |
Missense |
9/10 |
- |
1 |
7-44185258-CA-TT |
c.1090_1091delinsAA |
p.C364N |
Missense |
9/10 |
- |
1 |
7-44185258-C-T |
c.1091G>A |
p.C364Y |
Missense |
9/10 |
- |
1 |
7-44185258-C-G |
c.1091G>C |
p.C364S |
Missense |
9/10 |
- |
1 |
7-44185259-A-C |
c.1090T>G |
p.C364G |
Missense |
9/10 |
- |
1 |
7-44185259-A-G |
c.1090T>C |
p.C364R |
Missense |
9/10 |
- |
1 |
7-44185259-A-T |
c.1090T>A |
p.C364S |
Missense |
9/10 |
- |
1 |
7-44185259-CAGTCG-C |
c.1086_1090del |
p.D363Rfs*94 |
Frameshift |
9/10 |
- |
1 |
7-44185260-G-C |
c.1089C>G |
p.D363E |
Missense |
9/10 |
- |
1 |
7-44185260-G-T |
c.1089C>A |
p.D363E |
Missense |
9/10 |
- |
1 |
7-44185260-GTC-CAT |
c.1087_1089delinsATG |
p.D363M |
Missense |
9/10 |
- |
1 |
7-44185260-GTC-CCA |
c.1087_1089delinsTGG |
p.D363W |
Missense |
9/10 |
- |
1 |
7-44185260-GTC-CTT |
c.1087_1089delinsAAG |
p.D363K |
Missense |
9/10 |
- |
1 |
7-44185260-GTC-TTG |
c.1087_1089delinsCAA |
p.D363Q |
Missense |
9/10 |
- |
1 |
7-44185261-T-A |
c.1088A>T |
p.D363V |
Missense |
9/10 |
- |
1 |
7-44185261-T-C |
c.1088A>G |
p.D363G |
Missense |
9/10 |
- |
2 |
7-44185261-TC-AA |
c.1087_1088delinsTT |
p.D363F |
Missense |
9/10 |
- |
1 |
7-44185261-TC-AG |
c.1087_1088delinsCT |
p.D363L |
Missense |
9/10 |
- |
1 |
7-44185261-TC-AT |
c.1087_1088delinsAT |
p.D363I |
Missense |
9/10 |
- |
1 |
7-44185261-TC-CA |
c.1087_1088delinsTG |
p.D363C |
Missense |
9/10 |
- |
1 |
7-44185261-TC-CG |
c.1087_1088delinsCG |
p.D363R |
Missense |
9/10 |
- |
1 |
7-44185261-TC-CT |
c.1087_1088delinsAG |
p.D363S |
Missense |
9/10 |
- |
1 |
7-44185261-TC-GG |
c.1087_1088delinsCC |
p.D363P |
Missense |
9/10 |
- |
1 |
7-44185261-TC-GT |
c.1087_1088delinsAC |
p.D363T |
Missense |
9/10 |
- |
1 |
7-44185261-T-G |
c.1088A>C |
p.D363A |
Missense |
9/10 |
- |
1 |
7-44185262-C-A |
c.1087G>T |
p.D363Y |
Missense |
9/10 |
- |
1 |
7-44185262-C-G |
c.1087G>C |
p.D363H |
Missense |
9/10 |
- |
1 |
7-44185262-C-T |
c.1087G>A |
p.D363N |
Missense |
9/10 |
- |
5 |
7-44185263-GG-CA |
c.1085_1086delinsTG |
p.T362M |
Missense |
9/10 |
- |
1 |
7-44185263-GG-CC |
c.1085_1086inv |
p.T362R |
Missense |
9/10 |
- |
1 |
7-44185263-GG-CT |
c.1085_1086delinsAG |
p.T362K |
Missense |
9/10 |
- |
1 |
7-44185263-GGT-CCA |
c.1084_1086delinsTGG |
p.T362W |
Missense |
9/10 |
- |
1 |
7-44185263-GGT-CTC |
c.1084_1086delinsGAG |
p.T362E |
Missense |
9/10 |
- |
1 |
7-44185263-GGT-TTG |
c.1084_1086delinsCAA |
p.T362Q |
Missense |
9/10 |
- |
1 |
7-44185264-G-A |
c.1085C>T |
p.T362I |
Missense |
9/10 |
- |
2 |
7-44185264-G-C |
c.1085C>G |
p.T362S |
Missense |
9/10 |
- |
1 |
7-44185264-G-T |
c.1085C>A |
p.T362N |
Missense |
9/10 |
- |
1 |
7-44185264-GT-AA |
c.1084_1085delinsTT |
p.T362F |
Missense |
9/10 |
- |
1 |
7-44185264-GT-AC |
c.1084_1085inv |
p.T362V |
Missense |
9/10 |
- |
1 |
7-44185264-GT-AG |
c.1084_1085delinsCT |
p.T362L |
Missense |
9/10 |
- |
1 |
7-44185264-GT-CA |
c.1084_1085delinsTG |
p.T362C |
Missense |
9/10 |
- |
1 |
7-44185264-GT-CC |
c.1084_1085delinsGG |
p.T362G |
Missense |
9/10 |
- |
1 |
7-44185264-GT-TA |
c.1084_1085delinsTA |
p.T362Y |
Missense |
9/10 |
- |
1 |
7-44185264-GT-TC |
c.1084_1085delinsGA |
p.T362D |
Missense |
9/10 |
- |
1 |
7-44185264-GT-TG |
c.1084_1085delinsCA |
p.T362H |
Missense |
9/10 |
- |
1 |
7-44185265-T-A |
c.1084A>T |
p.T362S |
Missense |
9/10 |
- |
1 |
7-44185265-T-C |
c.1084A>G |
p.T362A |
Missense |
9/10 |
- |
1 |
7-44185265-T-G |
c.1084A>C |
p.T362P |
Missense |
9/10 |
- |
1 |
7-44185266-GG-CA |
c.1082_1083delinsTG |
p.T361M |
Missense |
9/10 |
- |
1 |
7-44185266-GG-CC |
c.1082_1083inv |
p.T361R |
Missense |
9/10 |
- |
1 |
7-44185266-GG-CT |
c.1082_1083delinsAG |
p.T361K |
Missense |
9/10 |
- |
1 |
7-44185266-GGT-CCA |
c.1081_1083delinsTGG |
p.T361W |
Missense |
9/10 |
- |
1 |
7-44185266-GGT-CTC |
c.1081_1083delinsGAG |
p.T361E |
Missense |
9/10 |
- |
1 |
7-44185266-GGT-TTG |
c.1081_1083delinsCAA |
p.T361Q |
Missense |
9/10 |
- |
1 |
7-44185265-T-TG |
c.1083dup |
p.T362Hfs*97 |
Frameshift |
9/10 |
- |
1 |
7-44185267-G-A |
c.1082C>T |
p.T361I |
Missense |
9/10 |
- |
1 |
7-44185267-G-C |
c.1082C>G |
p.T361S |
Missense |
9/10 |
- |
1 |
7-44185267-G-T |
c.1082C>A |
p.T361N |
Missense |
9/10 |
- |
1 |
7-44185267-GT-AA |
c.1081_1082delinsTT |
p.T361F |
Missense |
9/10 |
- |
1 |
7-44185267-GT-AC |
c.1081_1082inv |
p.T361V |
Missense |
9/10 |
- |
1 |
7-44185267-GT-AG |
c.1081_1082delinsCT |
p.T361L |
Missense |
9/10 |
- |
1 |
7-44185267-GT-CA |
c.1081_1082delinsTG |
p.T361C |
Missense |
9/10 |
- |
1 |
7-44185267-GT-CC |
c.1081_1082delinsGG |
p.T361G |
Missense |
9/10 |
- |
1 |
7-44185267-GT-TA |
c.1081_1082delinsTA |
p.T361Y |
Missense |
9/10 |
- |
1 |
7-44185267-GT-TC |
c.1081_1082delinsGA |
p.T361D |
Missense |
9/10 |
- |
1 |
7-44185267-GT-TG |
c.1081_1082delinsCA |
p.T361H |
Missense |
9/10 |
- |
1 |
7-44185268-T-A |
c.1081A>T |
p.T361S |
Missense |
9/10 |
- |
1 |
7-44185268-T-C |
c.1081A>G |
p.T361A |
Missense |
9/10 |
- |
2 |
7-44185268-T-G |
c.1081A>C |
p.T361P |
Missense |
9/10 |
- |
1 |
7-44185269-C-A |
c.1080G>T |
p.S360= |
Synonymous |
9/10 |
- |
1 |
7-44185269-C-G |
c.1080G>C |
p.S360= |
Synonymous |
9/10 |
- |
1 |
7-44185269-CG-AA |
c.1079_1080delinsTT |
p.S360F |
Missense |
9/10 |
- |
1 |
7-44185269-CGA-ATG |
c.1078_1080delinsCAT |
p.S360H |
Missense |
9/10 |
- |
1 |
7-44185269-CG-AC |
c.1079_1080delinsGT |
p.S360C |
Missense |
9/10 |
- |
1 |
7-44185269-CGA-GAT |
c.1078_1080delinsATC |
p.S360I |
Missense |
9/10 |
- |
1 |
7-44185269-CGA-GTC |
c.1078_1080delinsGAC |
p.S360D |
Missense |
9/10 |
- |
1 |
7-44185269-CGA-GTT |
c.1078_1080delinsAAC |
p.S360N |
Missense |
9/10 |
- |
1 |
7-44185269-CG-AT |
c.1079_1080delinsAT |
p.S360Y |
Missense |
9/10 |
- |
1 |
7-44185269-C-T |
c.1080G>A |
p.S360= |
Synonymous |
9/10 |
- |
1 |
7-44185270-G-A |
c.1079C>T |
p.S360L |
Missense |
9/10 |
- |
2 |
7-44185270-GA-AC |
c.1078_1079delinsGT |
p.S360V |
Missense |
9/10 |
- |
1 |
7-44185270-GA-AT |
c.1078_1079delinsAT |
p.S360M |
Missense |
9/10 |
- |
1 |
7-44185270-GA-CC |
c.1078_1079delinsGG |
p.S360G |
Missense |
9/10 |
- |
1 |
7-44185270-GA-CT |
c.1078_1079delinsAG |
p.S360R |
Missense |
9/10 |
- |
1 |
7-44185270-GA-TC |
c.1078_1079inv |
p.S360E |
Missense |
9/10 |
- |
1 |
7-44185270-GA-TG |
c.1078_1079delinsCA |
p.S360Q |
Missense |
9/10 |
- |
1 |
7-44185270-GA-TT |
c.1078_1079delinsAA |
p.S360K |
Missense |
9/10 |
- |
1 |
7-44185270-G-C |
c.1079C>G |
p.S360W |
Missense |
9/10 |
- |
2 |
7-44185270-G-T |
c.1079C>A |
p.S360* |
Nonsense |
9/10 |
- |
3 |
7-44185271-A-C |
c.1078T>G |
p.S360A |
Missense |
9/10 |
- |
1 |
7-44185271-A-G |
c.1078T>C |
p.S360P |
Missense |
9/10 |
- |
1 |
7-44185271-A-T |
c.1078T>A |
p.S360T |
Missense |
9/10 |
- |
1 |
7-44185272-GGG-CAT |
c.1075_1077delinsATG |
p.P359M |
Missense |
9/10 |
- |
1 |
7-44185272-GGG-CCA |
c.1075_1077delinsTGG |
p.P359W |
Missense |
9/10 |
- |
1 |
7-44185272-GGG-CTC |
c.1075_1077delinsGAG |
p.P359E |
Missense |
9/10 |
- |
1 |
7-44185272-GGG-CTT |
c.1075_1077delinsAAG |
p.P359K |
Missense |
9/10 |
- |
1 |
7-44185272-GG-TT |
c.1076_1077delinsAA |
p.P359Q |
Missense |
9/10 |
- |
1 |
7-44185273-G-A |
c.1076C>T |
p.P359L |
Missense |
9/10 |
- |
4 |
7-44185273-G-C |
c.1076C>G |
p.P359R |
Missense |
9/10 |
- |
1 |
7-44185273-GG-AA |
c.1075_1076delinsTT |
p.P359F |
Missense |
9/10 |
- |
1 |
7-44185273-GG-AC |
c.1075_1076delinsGT |
p.P359V |
Missense |
9/10 |
- |
1 |
7-44185273-GG-AT |
c.1075_1076delinsAT |
p.P359I |
Missense |
9/10 |
- |
1 |
7-44185273-GG-CA |
c.1075_1076delinsTG |
p.P359C |
Missense |
9/10 |
- |
1 |
7-44185273-GG-CC |
c.1075_1076inv |
p.P359G |
Missense |
9/10 |
- |
1 |
7-44185273-GG-TA |
c.1075_1076delinsTA |
p.P359Y |
Missense |
9/10 |
- |
1 |
7-44185273-GG-TC |
c.1075_1076delinsGA |
p.P359D |
Missense |
9/10 |
- |
1 |
7-44185273-GG-TT |
c.1075_1076delinsAA |
p.P359N |
Missense |
9/10 |
- |
1 |
7-44185273-G-T |
c.1076C>A |
p.P359H |
Missense |
9/10 |
- |
1 |
7-44185274-G-A |
c.1075C>T |
p.P359S |
Missense |
9/10 |
- |
2 |
7-44185274-G-C |
c.1075C>G |
p.P359A |
Missense |
9/10 |
- |
1 |
7-44185274-G-T |
c.1075C>A |
p.P359T |
Missense |
9/10 |
- |
1 |
7-44185275-TC-AT |
c.1073_1074delinsAT |
p.R358H |
Missense |
9/10 |
- |
1 |
7-44185275-TCG-AAA |
c.1072_1074delinsTTT |
p.R358F |
Missense |
9/10 |
- |
1 |
7-44185275-TCG-ACA |
c.1072_1074delinsTGT |
p.R358C |
Missense |
9/10 |
- |
1 |
7-44185275-TCG-ATA |
c.1072_1074delinsTAT |
p.R358Y |
Missense |
9/10 |
- |
1 |
7-44185275-TCG-CAT |
c.1072_1074delinsATG |
p.R358M |
Missense |
9/10 |
- |
1 |
7-44185275-TCG-CCA |
c.1072_1074delinsTGG |
p.R358W |
Missense |
9/10 |
- |
1 |
7-44185275-TCG-GCT |
c.1072_1074delinsAGC |
p.R358S |
Missense |
9/10 |
- |
1 |
7-44185275-TCG-GTC |
c.1072_1074delinsGAC |
p.R358D |
Missense |
9/10 |
- |
1 |
7-44185275-TCG-GTT |
c.1072_1074delinsAAC |
p.R358N |
Missense |
9/10 |
- |
1 |
7-44185276-C-A |
c.1073G>T |
p.R358L |
Missense |
9/10 |
- |
2 |
7-44185276-C-G |
c.1073G>C |
p.R358P |
Missense |
9/10 |
- |
2 |
7-44185276-CG-AC |
c.1072_1073delinsGT |
p.R358V |
Missense |
9/10 |
- |
1 |
7-44185276-CG-AT |
c.1072_1073delinsAT |
p.R358I |
Missense |
9/10 |
- |
1 |
7-44185276-CG-GC |
c.1072_1073delinsGC |
p.R358A |
Missense |
9/10 |
- |
1 |
7-44185276-CG-GT |
c.1072_1073delinsAC |
p.R358T |
Missense |
9/10 |
- |
1 |
7-44185276-CG-TC |
c.1072_1073delinsGA |
p.R358E |
Missense |
9/10 |
- |
1 |
7-44185276-CG-TT |
c.1072_1073delinsAA |
p.R358K |
Missense |
9/10 |
- |
2 |
7-44185276-C-T |
c.1073G>A |
p.R358Q |
Missense |
9/10 |
- |
2 |
7-44185277-G-A |
c.1072C>T |
p.R358* |
Nonsense |
9/10 |
- |
2 |
7-44185277-G-C |
c.1072C>G |
p.R358G |
Missense |
9/10 |
- |
1 |
7-44185278-CA-AT |
c.1070_1071delinsAT |
p.L357H |
Missense |
9/10 |
- |
1 |
7-44185278-CAG-AAA |
c.1069_1071delinsTTT |
p.L357F |
Missense |
9/10 |
- |
1 |
7-44185278-CAG-ACA |
c.1069_1071delinsTGT |
p.L357C |
Missense |
9/10 |
- |
1 |
7-44185278-CAG-ATA |
c.1069_1071delinsTAT |
p.L357Y |
Missense |
9/10 |
- |
1 |
7-44185278-CAG-GAT |
c.1069_1071delinsATC |
p.L357I |
Missense |
9/10 |
- |
1 |
7-44185278-CAG-GTC |
c.1069_1071delinsGAC |
p.L357D |
Missense |
9/10 |
- |
1 |
7-44185278-CAG-GTT |
c.1069_1071delinsAAC |
p.L357N |
Missense |
9/10 |
- |
1 |
7-44185279-A-C |
c.1070T>G |
p.L357R |
Missense |
9/10 |
- |
1 |
7-44185279-A-G |
c.1070T>C |
p.L357P |
Missense |
9/10 |
- |
1 |
7-44185279-AG-CA |
c.1069_1070delinsTG |
p.L357W |
Missense |
9/10 |
- |
1 |
7-44185279-AG-CC |
c.1069_1070delinsGG |
p.L357G |
Missense |
9/10 |
- |
1 |
7-44185279-AG-GA |
c.1069_1070delinsTC |
p.L357S |
Missense |
9/10 |
- |
1 |
7-44185279-AG-GC |
c.1069_1070delinsGC |
p.L357A |
Missense |
9/10 |
- |
1 |
7-44185279-AG-GT |
c.1069_1070delinsAC |
p.L357T |
Missense |
9/10 |
- |
1 |
7-44185279-AG-TC |
c.1069_1070delinsGA |
p.L357E |
Missense |
9/10 |
- |
1 |
7-44185279-AG-TT |
c.1069_1070delinsAA |
p.L357K |
Missense |
9/10 |
- |
1 |
7-44185279-A-T |
c.1070T>A |
p.L357Q |
Missense |
9/10 |
- |
1 |
7-44185280-G-C |
c.1069C>G |
p.L357V |
Missense |
9/10 |
- |
1 |
7-44185280-G-T |
c.1069C>A |
p.L357M |
Missense |
9/10 |
- |
1 |
7-44185281-CCC-AAA |
c.1066_1068delinsTTT |
p.G356F |
Missense |
9/10 |
- |
1 |
7-44185281-CCC-ACA |
c.1066_1068delinsTGT |
p.G356C |
Missense |
9/10 |
- |
1 |
7-44185281-CCC-ATA |
c.1066_1068delinsTAT |
p.G356Y |
Missense |
9/10 |
- |
1 |
7-44185281-CCC-ATG |
c.1066_1068delinsCAT |
p.G356H |
Missense |
9/10 |
- |
1 |
7-44185281-CCC-GAT |
c.1066_1068delinsATC |
p.G356I |
Missense |
9/10 |
- |
1 |
7-44185281-CCC-GCT |
c.1066_1068delinsAGC |
p.G356S |
Missense |
9/10 |
- |
1 |
7-44185281-CCC-GTT |
c.1066_1068delinsAAC |
p.G356N |
Missense |
9/10 |
- |
1 |
7-44185281-CC-GT |
c.1067_1068delinsAC |
p.G356D |
Missense |
9/10 |
- |
1 |
7-44185282-C-A |
c.1067G>T |
p.G356V |
Missense |
9/10 |
- |
2 |
7-44185282-CC-AG |
c.1066_1067delinsCT |
p.G356L |
Missense |
9/10 |
- |
1 |
7-44185282-CC-AT |
c.1066_1067delinsAT |
p.G356M |
Missense |
9/10 |
- |
1 |
7-44185282-CC-GG |
c.1066_1067inv |
p.G356P |
Missense |
9/10 |
- |
1 |
7-44185282-CC-GT |
c.1066_1067delinsAC |
p.G356T |
Missense |
9/10 |
- |
1 |
7-44185282-CC-TG |
c.1066_1067delinsCA |
p.G356Q |
Missense |
9/10 |
- |
1 |
7-44185282-CC-TT |
c.1066_1067delinsAA |
p.G356K |
Missense |
9/10 |
- |
1 |
7-44185282-C-G |
c.1067G>C |
p.G356A |
Missense |
9/10 |
- |
1 |
7-44185282-C-T |
c.1067G>A |
p.G356E |
Missense |
9/10 |
- |
1 |
7-44185283-C-A |
c.1066G>T |
p.G356W |
Missense |
9/10 |
- |
1 |
7-44185283-C-G |
c.1066G>C |
p.G356R |
Missense |
9/10 |
- |
1 |
7-44185283-C-T |
c.1066G>A |
p.G356R |
Missense |
9/10 |
- |
1 |
7-44185284-C-A |
c.1065G>T |
p.L355= |
Synonymous |
9/10 |
- |
1 |
7-44185284-CA-AT |
c.1064_1065delinsAT |
p.L355H |
Missense |
9/10 |
- |
1 |
7-44185284-CAG-AAA |
c.1063_1065delinsTTT |
p.L355F |
Missense |
9/10 |
- |
1 |
7-44185284-CAG-ACA |
c.1063_1065delinsTGT |
p.L355C |
Missense |
9/10 |
- |
1 |
7-44185284-CAG-ATA |
c.1063_1065delinsTAT |
p.L355Y |
Missense |
9/10 |
- |
1 |
7-44185284-CAG-GAT |
c.1063_1065delinsATC |
p.L355I |
Missense |
9/10 |
- |
1 |
7-44185284-CAG-GTC |
c.1063_1065delinsGAC |
p.L355D |
Missense |
9/10 |
- |
1 |
7-44185284-CAG-GTT |
c.1063_1065delinsAAC |
p.L355N |
Missense |
9/10 |
- |
1 |
7-44185284-C-G |
c.1065G>C |
p.L355= |
Synonymous |
9/10 |
- |
2 |
7-44185284-C-T |
c.1065G>A |
p.L355= |
Synonymous |
9/10 |
- |
1 |
7-44185286-G-A |
c.1063C>T |
p.L355= |
Synonymous |
9/10 |
- |
1 |
7-44185285-A-C |
c.1064T>G |
p.L355R |
Missense |
9/10 |
- |
1 |
7-44185285-A-G |
c.1064T>C |
p.L355P |
Missense |
9/10 |
- |
1 |
7-44185285-AG-CA |
c.1063_1064delinsTG |
p.L355W |
Missense |
9/10 |
- |
1 |
7-44185285-AG-CC |
c.1063_1064delinsGG |
p.L355G |
Missense |
9/10 |
- |
1 |
7-44185285-AG-GA |
c.1063_1064delinsTC |
p.L355S |
Missense |
9/10 |
- |
1 |
7-44185285-AG-GC |
c.1063_1064delinsGC |
p.L355A |
Missense |
9/10 |
- |
1 |
7-44185285-AG-GT |
c.1063_1064delinsAC |
p.L355T |
Missense |
9/10 |
- |
1 |
7-44185285-AG-TC |
c.1063_1064delinsGA |
p.L355E |
Missense |
9/10 |
- |
1 |
7-44185285-AG-TT |
c.1063_1064delinsAA |
p.L355K |
Missense |
9/10 |
- |
1 |
7-44185285-A-T |
c.1064T>A |
p.L355Q |
Missense |
9/10 |
- |
1 |
7-44185286-G-C |
c.1063C>G |
p.L355V |
Missense |
9/10 |
- |
1 |
7-44185286-G-T |
c.1063C>A |
p.L355M |
Missense |
9/10 |
- |
1 |
7-44185287-CG-GA |
c.1061_1062delinsTC |
p.T354I |
Missense |
9/10 |
- |
1 |
7-44185287-CG-GT |
c.1061_1062delinsAC |
p.T354N |
Missense |
9/10 |
- |
1 |
7-44185287-CGT-AAA |
c.1060_1062delinsTTT |
p.T354F |
Missense |
9/10 |
- |
1 |
7-44185287-CGT-ACA |
c.1060_1062delinsTGT |
p.T354C |
Missense |
9/10 |
- |
1 |
7-44185287-CGT-ATA |
c.1060_1062delinsTAT |
p.T354Y |
Missense |
9/10 |
- |
1 |
7-44185287-CGT-ATG |
c.1060_1062delinsCAT |
p.T354H |
Missense |
9/10 |
- |
1 |
7-44185287-CGT-GTC |
c.1060_1062delinsGAC |
p.T354D |
Missense |
9/10 |
- |
1 |
7-44185288-G-A |
c.1061C>T |
p.T354M |
Missense |
9/10 |
- |
3 |
7-44185288-G-C |
c.1061C>G |
p.T354R |
Missense |
9/10 |
- |
1 |
7-44185288-G-T |
c.1061C>A |
p.T354K |
Missense |
9/10 |
- |
1 |
7-44185288-GT-AC |
c.1060_1061inv |
p.T354V |
Missense |
9/10 |
- |
1 |
7-44185288-GT-AG |
c.1060_1061delinsCT |
p.T354L |
Missense |
9/10 |
- |
1 |
7-44185288-GT-CA |
c.1060_1061delinsTG |
p.T354W |
Missense |
9/10 |
- |
1 |
7-44185288-GT-CC |
c.1060_1061delinsGG |
p.T354G |
Missense |
9/10 |
- |
1 |
7-44185288-GT-TC |
c.1060_1061delinsGA |
p.T354E |
Missense |
9/10 |
- |
1 |
7-44185288-GT-TG |
c.1060_1061delinsCA |
p.T354Q |
Missense |
9/10 |
- |
1 |
7-44185289-T-A |
c.1060A>T |
p.T354S |
Missense |
9/10 |
- |
1 |
7-44185289-T-C |
c.1060A>G |
p.T354A |
Missense |
9/10 |
- |
1 |
7-44185289-T-G |
c.1060A>C |
p.T354P |
Missense |
9/10 |
- |
1 |
7-44185290-G-A |
c.1059C>T |
p.S353= |
Synonymous |
9/10 |
- |
1 |
7-44185290-G-C |
c.1059C>G |
p.S353R |
Missense |
9/10 |
- |
1 |
7-44185290-GC-CA |
c.1058_1059delinsTG |
p.S353M |
Missense |
9/10 |
- |
1 |
7-44185290-GC-CT |
c.1058_1059delinsAG |
p.S353K |
Missense |
9/10 |
- |
1 |
7-44185290-GCT-CCA |
c.1057_1059delinsTGG |
p.S353W |
Missense |
9/10 |
- |
1 |
7-44185290-GCT-CTC |
c.1057_1059delinsGAG |
p.S353E |
Missense |
9/10 |
- |
1 |
7-44185290-GCT-TTG |
c.1057_1059delinsCAA |
p.S353Q |
Missense |
9/10 |
- |
1 |
7-44185290-G-T |
c.1059C>A |
p.S353R |
Missense |
9/10 |
- |
1 |
7-44185292-T-G |
c.1057A>C |
p.S353R |
Missense |
9/10 |
- |
1 |
7-44185291-C-A |
c.1058G>T |
p.S353I |
Missense |
9/10 |
- |
1 |
7-44185291-C-G |
c.1058G>C |
p.S353T |
Missense |
9/10 |
- |
2 |
7-44185291-C-T |
c.1058G>A |
p.S353N |
Missense |
9/10 |
- |
1 |
7-44185291-CT-AA |
c.1057_1058delinsTT |
p.S353F |
Missense |
9/10 |
- |
1 |
7-44185291-CT-AC |
c.1057_1058delinsGT |
p.S353V |
Missense |
9/10 |
- |
1 |
7-44185291-CT-AG |
c.1057_1058inv |
p.S353L |
Missense |
9/10 |
- |
1 |
7-44185291-CT-GC |
c.1057_1058delinsGC |
p.S353A |
Missense |
9/10 |
- |
1 |
7-44185291-CT-GG |
c.1057_1058delinsCC |
p.S353P |
Missense |
9/10 |
- |
1 |
7-44185291-CT-TA |
c.1057_1058delinsTA |
p.S353Y |
Missense |
9/10 |
- |
1 |
7-44185291-CT-TC |
c.1057_1058delinsGA |
p.S353D |
Missense |
9/10 |
- |
1 |
7-44185291-CT-TG |
c.1057_1058delinsCA |
p.S353H |
Missense |
9/10 |
- |
1 |
7-44185292-T-A |
c.1057A>T |
p.S353C |
Missense |
9/10 |
- |
1 |
7-44185292-T-C |
c.1057A>G |
p.S353G |
Missense |
9/10 |
- |
1 |
7-44185293-C-A |
c.1056G>T |
p.L352= |
Synonymous |
9/10 |
- |
1 |
7-44185293-CA-AT |
c.1055_1056delinsAT |
p.L352H |
Missense |
9/10 |
- |
1 |
7-44185293-CAG-AAA |
c.1054_1056delinsTTT |
p.L352F |
Missense |
9/10 |
- |
1 |
7-44185293-CAG-ACA |
c.1054_1056delinsTGT |
p.L352C |
Missense |
9/10 |
- |
1 |
7-44185293-CAG-ATA |
c.1054_1056delinsTAT |
p.L352Y |
Missense |
9/10 |
- |
1 |
7-44185293-CAG-GAT |
c.1054_1056delinsATC |
p.L352I |
Missense |
9/10 |
- |
1 |
7-44185293-CAG-GTC |
c.1054_1056delinsGAC |
p.L352D |
Missense |
9/10 |
- |
1 |
7-44185293-CAG-GTT |
c.1054_1056delinsAAC |
p.L352N |
Missense |
9/10 |
- |
1 |
7-44185293-C-G |
c.1056G>C |
p.L352= |
Synonymous |
9/10 |
- |
1 |
7-44185293-C-T |
c.1056G>A |
p.L352= |
Synonymous |
9/10 |
- |
1 |
7-44185295-G-A |
c.1054C>T |
p.L352= |
Synonymous |
9/10 |
- |
1 |
7-44185294-A-C |
c.1055T>G |
p.L352R |
Missense |
9/10 |
- |
3 |
7-44185294-A-G |
c.1055T>C |
p.L352P |
Missense |
9/10 |
- |
1 |
7-44185294-AG-CA |
c.1054_1055delinsTG |
p.L352W |
Missense |
9/10 |
- |
1 |
7-44185294-AG-CC |
c.1054_1055delinsGG |
p.L352G |
Missense |
9/10 |
- |
1 |
7-44185294-AG-GA |
c.1054_1055delinsTC |
p.L352S |
Missense |
9/10 |
- |
1 |
7-44185294-AG-GC |
c.1054_1055delinsGC |
p.L352A |
Missense |
9/10 |
- |
1 |
7-44185294-AG-GT |
c.1054_1055delinsAC |
p.L352T |
Missense |
9/10 |
- |
1 |
7-44185294-AG-TC |
c.1054_1055delinsGA |
p.L352E |
Missense |
9/10 |
- |
1 |
7-44185294-AG-TT |
c.1054_1055delinsAA |
p.L352K |
Missense |
9/10 |
- |
1 |
7-44185294-A-T |
c.1055T>A |
p.L352Q |
Missense |
9/10 |
- |
1 |
7-44185295-G-C |
c.1054C>G |
p.L352V |
Missense |
9/10 |
- |
1 |
7-44185295-G-T |
c.1054C>A |
p.L352M |
Missense |
9/10 |
- |
1 |
7-44185296-GA-CC |
c.1052_1053delinsGG |
p.I351R |
Missense |
9/10 |
- |
1 |
7-44185296-GA-CT |
c.1052_1053delinsAG |
p.I351K |
Missense |
9/10 |
- |
1 |
7-44185296-GAT-CCA |
c.1051_1053delinsTGG |
p.I351W |
Missense |
9/10 |
- |
1 |
7-44185296-GAT-CTC |
c.1051_1053delinsGAG |
p.I351E |
Missense |
9/10 |
- |
1 |
7-44185296-GAT-TTG |
c.1051_1053delinsCAA |
p.I351Q |
Missense |
9/10 |
- |
1 |
7-44185296-G-C |
c.1053C>G |
p.I351M |
Missense |
9/10 |
- |
1 |
7-44185297-A-C |
c.1052T>G |
p.I351S |
Missense |
9/10 |
- |
1 |
7-44185297-A-G |
c.1052T>C |
p.I351T |
Missense |
9/10 |
- |
1 |
7-44185297-A-T |
c.1052T>A |
p.I351N |
Missense |
9/10 |
- |
1 |
7-44185297-AT-CA |
c.1051_1052delinsTG |
p.I351C |
Missense |
9/10 |
- |
1 |
7-44185297-AT-CC |
c.1051_1052delinsGG |
p.I351G |
Missense |
9/10 |
- |
1 |
7-44185297-AT-GC |
c.1051_1052delinsGC |
p.I351A |
Missense |
9/10 |
- |
1 |
7-44185297-AT-GG |
c.1051_1052delinsCC |
p.I351P |
Missense |
9/10 |
- |
1 |
7-44185297-AT-TA |
c.1051_1052delinsTA |
p.I351Y |
Missense |
9/10 |
- |
1 |
7-44185297-AT-TC |
c.1051_1052delinsGA |
p.I351D |
Missense |
9/10 |
- |
1 |
7-44185297-AT-TG |
c.1051_1052delinsCA |
p.I351H |
Missense |
9/10 |
- |
1 |
7-44185298-T-A |
c.1051A>T |
p.I351F |
Missense |
9/10 |
- |
1 |
7-44185298-T-C |
c.1051A>G |
p.I351V |
Missense |
9/10 |
- |
2 |
7-44185298-T-G |
c.1051A>C |
p.I351L |
Missense |
9/10 |
- |
1 |
7-44185299-G-C |
c.1050C>G |
p.N350K |
Missense |
9/10 |
- |
1 |
7-44185299-G-T |
c.1050C>A |
p.N350K |
Missense |
9/10 |
- |
2 |
7-44185299-GT-CA |
c.1049_1050delinsTG |
p.N350M |
Missense |
9/10 |
- |
1 |
7-44185299-GT-CC |
c.1049_1050delinsGG |
p.N350R |
Missense |
9/10 |
- |
1 |
7-44185299-GTT-CCA |
c.1048_1050delinsTGG |
p.N350W |
Missense |
9/10 |
- |
1 |
7-44185299-GTT-CTC |
c.1048_1050delinsGAG |
p.N350E |
Missense |
9/10 |
- |
1 |
7-44185299-GTT-TTG |
c.1048_1050delinsCAA |
p.N350Q |
Missense |
9/10 |
- |
1 |
7-44185300-T-A |
c.1049A>T |
p.N350I |
Missense |
9/10 |
- |
1 |
7-44185300-T-C |
c.1049A>G |
p.N350S |
Missense |
9/10 |
- |
1 |
7-44185300-T-G |
c.1049A>C |
p.N350T |
Missense |
9/10 |
- |
1 |
7-44185300-TT-AA |
c.1048_1049inv |
p.N350F |
Missense |
9/10 |
- |
1 |
7-44185300-TT-AC |
c.1048_1049delinsGT |
p.N350V |
Missense |
9/10 |
- |
1 |
7-44185300-TT-AG |
c.1048_1049delinsCT |
p.N350L |
Missense |
9/10 |
- |
1 |
7-44185300-TT-CA |
c.1048_1049delinsTG |
p.N350C |
Missense |
9/10 |
- |
1 |
7-44185300-TT-CC |
c.1048_1049delinsGG |
p.N350G |
Missense |
9/10 |
- |
1 |
7-44185300-TT-GC |
c.1048_1049delinsGC |
p.N350A |
Missense |
9/10 |
- |
1 |
7-44185300-TT-GG |
c.1048_1049delinsCC |
p.N350P |
Missense |
9/10 |
- |
1 |
7-44185301-T-A |
c.1048A>T |
p.N350Y |
Missense |
9/10 |
- |
1 |
7-44185301-T-C |
c.1048A>G |
p.N350D |
Missense |
9/10 |
- |
1 |
7-44185301-T-G |
c.1048A>C |
p.N350H |
Missense |
9/10 |
- |
1 |
7-44185302-G-T |
c.1047C>A |
p.Y349* |
Nonsense |
9/10 |
- |
2 |
7-44185302-GTA-CAT |
c.1045_1047delinsATG |
p.Y349M |
Missense |
9/10 |
- |
1 |
7-44185302-GTA-CTC |
c.1045_1047delinsGAG |
p.Y349E |
Missense |
9/10 |
- |
1 |
7-44185302-GTA-CTT |
c.1045_1047delinsAAG |
p.Y349K |
Missense |
9/10 |
- |
1 |
7-44185302-GTA-TTG |
c.1045_1047delinsCAA |
p.Y349Q |
Missense |
9/10 |
- |
1 |
7-44185302-GT-CC |
c.1046_1047delinsGG |
p.Y349W |
Missense |
9/10 |
- |
1 |
7-44185303-T-A |
c.1046A>T |
p.Y349F |
Missense |
9/10 |
- |
1 |
7-44185303-TA-AC |
c.1045_1046delinsGT |
p.Y349V |
Missense |
9/10 |
- |
1 |
7-44185303-TA-AG |
c.1045_1046delinsCT |
p.Y349L |
Missense |
9/10 |
- |
1 |
7-44185303-TA-AT |
c.1045_1046delinsAT |
p.Y349I |
Missense |
9/10 |
- |
1 |
7-44185303-TA-CC |
c.1045_1046delinsGG |
p.Y349G |
Missense |
9/10 |
- |
1 |
7-44185303-TA-CG |
c.1045_1046delinsCG |
p.Y349R |
Missense |
9/10 |
- |
1 |
7-44185303-TA-GC |
c.1045_1046delinsGC |
p.Y349A |
Missense |
9/10 |
- |
1 |
7-44185303-TA-GG |
c.1045_1046delinsCC |
p.Y349P |
Missense |
9/10 |
- |
1 |
7-44185303-TA-GT |
c.1045_1046delinsAC |
p.Y349T |
Missense |
9/10 |
- |
1 |
7-44185303-T-C |
c.1046A>G |
p.Y349C |
Missense |
9/10 |
- |
2 |
7-44185303-T-G |
c.1046A>C |
p.Y349S |
Missense |
9/10 |
- |
1 |
7-44185304-A-C |
c.1045T>G |
p.Y349D |
Missense |
9/10 |
- |
1 |
7-44185304-A-G |
c.1045T>C |
p.Y349H |
Missense |
9/10 |
- |
1 |
7-44185304-A-T |
c.1045T>A |
p.Y349N |
Missense |
9/10 |
- |
1 |
7-44185305-GA-CC |
c.1043_1044delinsGG |
p.I348R |
Missense |
9/10 |
- |
1 |
7-44185305-GA-CT |
c.1043_1044delinsAG |
p.I348K |
Missense |
9/10 |
- |
1 |
7-44185305-GAT-CCA |
c.1042_1044delinsTGG |
p.I348W |
Missense |
9/10 |
- |
1 |
7-44185305-GAT-CTC |
c.1042_1044delinsGAG |
p.I348E |
Missense |
9/10 |
- |
1 |
7-44185305-GAT-TTG |
c.1042_1044delinsCAA |
p.I348Q |
Missense |
9/10 |
- |
1 |
7-44185305-G-C |
c.1044C>G |
p.I348M |
Missense |
9/10 |
- |
1 |
7-44185306-A-C |
c.1043T>G |
p.I348S |
Missense |
9/10 |
- |
1 |
7-44185306-A-G |
c.1043T>C |
p.I348T |
Missense |
9/10 |
- |
1 |
7-44185306-A-T |
c.1043T>A |
p.I348N |
Missense |
9/10 |
- |
1 |
7-44185306-AT-CA |
c.1042_1043delinsTG |
p.I348C |
Missense |
9/10 |
- |
1 |
7-44185306-AT-CC |
c.1042_1043delinsGG |
p.I348G |
Missense |
9/10 |
- |
1 |
7-44185306-AT-GC |
c.1042_1043delinsGC |
p.I348A |
Missense |
9/10 |
- |
1 |
7-44185306-AT-GG |
c.1042_1043delinsCC |
p.I348P |
Missense |
9/10 |
- |
1 |
7-44185306-AT-TA |
c.1042_1043delinsTA |
p.I348Y |
Missense |
9/10 |
- |
1 |
7-44185306-AT-TC |
c.1042_1043delinsGA |
p.I348D |
Missense |
9/10 |
- |
1 |
7-44185306-AT-TG |
c.1042_1043delinsCA |
p.I348H |
Missense |
9/10 |
- |
1 |
7-44185307-T-A |
c.1042A>T |
p.I348F |
Missense |
9/10 |
- |
7 |
7-44185307-T-C |
c.1042A>G |
p.I348V |
Missense |
9/10 |
- |
1 |
7-44185307-T-G |
c.1042A>C |
p.I348L |
Missense |
9/10 |
- |
1 |
7-44185308-C-A |
c.1041G>T |
p.Q347H |
Missense |
9/10 |
- |
1 |
7-44185308-C-G |
c.1041G>C |
p.Q347H |
Missense |
9/10 |
- |
1 |
7-44185308-CTG-AAA |
c.1039_1041delinsTTT |
p.Q347F |
Missense |
9/10 |
- |
1 |
7-44185308-CTG-ACA |
c.1039_1041delinsTGT |
p.Q347C |
Missense |
9/10 |
- |
1 |
7-44185308-CTG-ATA |
c.1039_1041delinsTAT |
p.Q347Y |
Missense |
9/10 |
- |
1 |
7-44185308-CTG-GAT |
c.1039_1041delinsATC |
p.Q347I |
Missense |
9/10 |
- |
1 |
7-44185308-CTG-GTC |
c.1039_1041delinsGAC |
p.Q347D |
Missense |
9/10 |
- |
1 |
7-44185308-CTG-GTT |
c.1039_1041delinsAAC |
p.Q347N |
Missense |
9/10 |
- |
1 |
7-44185309-T-A |
c.1040A>T |
p.Q347L |
Missense |
9/10 |
- |
1 |
7-44185309-T-C |
c.1040A>G |
p.Q347R |
Missense |
9/10 |
- |
1 |
7-44185309-T-G |
c.1040A>C |
p.Q347P |
Missense |
9/10 |
- |
1 |
7-44185309-TG-AC |
c.1039_1040delinsGT |
p.Q347V |
Missense |
9/10 |
- |
1 |
7-44185309-TG-AT |
c.1039_1040delinsAT |
p.Q347M |
Missense |
9/10 |
- |
1 |
7-44185309-TG-CA |
c.1039_1040inv |
p.Q347W |
Missense |
9/10 |
- |
1 |
7-44185309-TG-CC |
c.1039_1040delinsGG |
p.Q347G |
Missense |
9/10 |
- |
1 |
7-44185309-TG-GA |
c.1039_1040delinsTC |
p.Q347S |
Missense |
9/10 |
- |
1 |
7-44185309-TG-GC |
c.1039_1040delinsGC |
p.Q347A |
Missense |
9/10 |
- |
1 |
7-44185309-TG-GT |
c.1039_1040delinsAC |
p.Q347T |
Missense |
9/10 |
- |
1 |
7-44185310-G-A |
c.1039C>T |
p.Q347* |
Nonsense |
9/10 |
- |
3 |
7-44185310-G-C |
c.1039C>G |
p.Q347E |
Missense |
9/10 |
- |
1 |
7-44185310-G-T |
c.1039C>A |
p.Q347K |
Missense |
9/10 |
- |
1 |
7-44185311-C-A |
c.1038G>T |
p.K346N |
Missense |
9/10 |
- |
1 |
7-44185311-C-G |
c.1038G>C |
p.K346N |
Missense |
9/10 |
- |
1 |
7-44185311-CT-GA |
c.1037_1038delinsTC |
p.K346I |
Missense |
9/10 |
- |
1 |
7-44185311-CT-GC |
c.1037_1038delinsGC |
p.K346S |
Missense |
9/10 |
- |
1 |
7-44185311-CTT-AAA |
c.1036_1038delinsTTT |
p.K346F |
Missense |
9/10 |
- |
1 |
7-44185311-CTT-ACA |
c.1036_1038delinsTGT |
p.K346C |
Missense |
9/10 |
- |
1 |
7-44185311-CTT-ATA |
c.1036_1038delinsTAT |
p.K346Y |
Missense |
9/10 |
- |
1 |
7-44185311-CTT-ATG |
c.1036_1038delinsCAT |
p.K346H |
Missense |
9/10 |
- |
1 |
7-44185311-CTT-GTC |
c.1036_1038delinsGAC |
p.K346D |
Missense |
9/10 |
- |
1 |
7-44185309-TGCTTGCGGTC-T |
c.1030_1039del |
p.D344Rfs*6 |
Frameshift |
9/10 |
- |
1 |
7-44185312-T-A |
c.1037A>T |
p.K346M |
Missense |
9/10 |
- |
1 |
7-44185312-T-C |
c.1037A>G |
p.K346R |
Missense |
9/10 |
- |
2 |
7-44185312-T-G |
c.1037A>C |
p.K346T |
Missense |
9/10 |
- |
1 |
7-44185312-TT-AC |
c.1036_1037delinsGT |
p.K346V |
Missense |
9/10 |
- |
1 |
7-44185312-TT-AG |
c.1036_1037delinsCT |
p.K346L |
Missense |
9/10 |
- |
1 |
7-44185312-TT-CA |
c.1036_1037delinsTG |
p.K346W |
Missense |
9/10 |
- |
1 |
7-44185312-TT-CC |
c.1036_1037delinsGG |
p.K346G |
Missense |
9/10 |
- |
1 |
7-44185312-TT-GC |
c.1036_1037delinsGC |
p.K346A |
Missense |
9/10 |
- |
1 |
7-44185312-TT-GG |
c.1036_1037delinsCC |
p.K346P |
Missense |
9/10 |
- |
1 |
7-44185313-T-C |
c.1036A>G |
p.K346E |
Missense |
9/10 |
- |
1 |
7-44185313-T-G |
c.1036A>C |
p.K346Q |
Missense |
9/10 |
- |
1 |
7-44185314-GCG-CAT |
c.1033_1035delinsATG |
p.R345M |
Missense |
9/10 |
- |
1 |
7-44185314-GCG-CCA |
c.1033_1035delinsTGG |
p.R345W |
Missense |
9/10 |
- |
1 |
7-44185314-GCG-CTC |
c.1033_1035delinsGAG |
p.R345E |
Missense |
9/10 |
- |
1 |
7-44185314-GCG-CTT |
c.1033_1035delinsAAG |
p.R345K |
Missense |
9/10 |
- |
1 |
7-44185314-GC-TT |
c.1034_1035delinsAA |
p.R345Q |
Missense |
9/10 |
- |
1 |
7-44185314-TGCGGTCGCCCGTGTCG-T |
c.1020_1035del |
p.S340Rfs*8 |
SpliceAcceptorDeletion |
9/10 |
- |
1 |
7-44185314-TG-T |
c.1035del |
p.K346Sfs*7 |
Frameshift |
9/10 |
- |
1 |
7-44185315-C-A |
c.1034G>T |
p.R345L |
Missense |
9/10 |
- |
3 |
7-44185315-C-G |
c.1034G>C |
p.R345P |
Missense |
9/10 |
- |
1 |
7-44185315-CG-AA |
c.1033_1034delinsTT |
p.R345F |
Missense |
9/10 |
- |
1 |
7-44185315-CG-AC |
c.1033_1034delinsGT |
p.R345V |
Missense |
9/10 |
- |
1 |
7-44185315-CG-AT |
c.1033_1034delinsAT |
p.R345I |
Missense |
9/10 |
- |
1 |
7-44185315-CG-GC |
c.1033_1034delinsGC |
p.R345A |
Missense |
9/10 |
- |
1 |
7-44185315-CG-GT |
c.1033_1034delinsAC |
p.R345T |
Missense |
9/10 |
- |
1 |
7-44185315-CG-TA |
c.1033_1034delinsTA |
p.R345Y |
Missense |
9/10 |
- |
1 |
7-44185315-CG-TC |
c.1033_1034delinsGA |
p.R345D |
Missense |
9/10 |
- |
1 |
7-44185315-CG-TT |
c.1033_1034delinsAA |
p.R345N |
Missense |
9/10 |
- |
1 |
7-44185315-C-T |
c.1034G>A |
p.R345H |
Missense |
9/10 |
- |
3 |
7-44185316-G-A |
c.1033C>T |
p.R345C |
Missense |
9/10 |
- |
1 |
7-44185316-G-C |
c.1033C>G |
p.R345G |
Missense |
9/10 |
- |
1 |
7-44185316-G-T |
c.1033C>A |
p.R345S |
Missense |
9/10 |
- |
1 |
7-44185317-G-A |
c.1032C>T |
p.D344= |
Synonymous |
9/10 |
- |
1 |
7-44185317-G-C |
c.1032C>G |
p.D344E |
Missense |
9/10 |
- |
1 |
7-44185317-G-T |
c.1032C>A |
p.D344E |
Missense |
9/10 |
- |
1 |
7-44185317-GTC-CAT |
c.1030_1032delinsATG |
p.D344M |
Missense |
9/10 |
- |
1 |
7-44185317-GTC-CCA |
c.1030_1032delinsTGG |
p.D344W |
Missense |
9/10 |
- |
1 |
7-44185317-GTC-CTT |
c.1030_1032delinsAAG |
p.D344K |
Missense |
9/10 |
- |
1 |
7-44185317-GTC-TTG |
c.1030_1032delinsCAA |
p.D344Q |
Missense |
9/10 |
- |
1 |
7-44185318-T-A |
c.1031A>T |
p.D344V |
Missense |
9/10 |
- |
1 |
7-44185318-T-C |
c.1031A>G |
p.D344G |
Missense |
9/10 |
- |
1 |
7-44185318-TC-AA |
c.1030_1031delinsTT |
p.D344F |
Missense |
9/10 |
- |
1 |
7-44185318-TC-AG |
c.1030_1031delinsCT |
p.D344L |
Missense |
9/10 |
- |
1 |
7-44185318-TC-AT |
c.1030_1031delinsAT |
p.D344I |
Missense |
9/10 |
- |
1 |
7-44185318-TC-CA |
c.1030_1031delinsTG |
p.D344C |
Missense |
9/10 |
- |
1 |
7-44185318-TC-CG |
c.1030_1031delinsCG |
p.D344R |
Missense |
9/10 |
- |
1 |
7-44185318-TC-CT |
c.1030_1031delinsAG |
p.D344S |
Missense |
9/10 |
- |
1 |
7-44185318-TC-GG |
c.1030_1031delinsCC |
p.D344P |
Missense |
9/10 |
- |
1 |
7-44185318-TC-GT |
c.1030_1031delinsAC |
p.D344T |
Missense |
9/10 |
- |
1 |
7-44185318-T-G |
c.1031A>C |
p.D344A |
Missense |
9/10 |
- |
1 |
7-44185319-C-A |
c.1030G>T |
p.D344Y |
Missense |
9/10 |
- |
1 |
7-44185319-C-G |
c.1030G>C |
p.D344H |
Missense |
9/10 |
- |
2 |
7-44185319-C-T |
c.1030G>A |
p.D344N |
Missense |
9/10 |
- |
1 |
7-44185320-G-A |
c.1029C>T |
p.G343= |
Synonymous |
9/10 |
- |
1 |
7-44185320-G-C |
c.1029C>G |
p.G343= |
Synonymous |
9/10 |
- |
1 |
7-44185320-GCC-CAT |
c.1027_1029delinsATG |
p.G343M |
Missense |
9/10 |
- |
1 |
7-44185320-GCC-CCA |
c.1027_1029delinsTGG |
p.G343W |
Missense |
9/10 |
- |
1 |
7-44185320-GCC-CTT |
c.1027_1029delinsAAG |
p.G343K |
Missense |
9/10 |
- |
1 |
7-44185320-GC-CT |
c.1028_1029delinsAG |
p.G343E |
Missense |
9/10 |
- |
1 |
7-44185320-GCC-TTG |
c.1027_1029delinsCAA |
p.G343Q |
Missense |
9/10 |
- |
1 |
7-44185320-G-T |
c.1029C>A |
p.G343= |
Synonymous |
9/10 |
- |
1 |
7-44185321-C-A |
c.1028G>T |
p.G343V |
Missense |
9/10 |
- |
1 |
7-44185321-CC-AA |
c.1027_1028delinsTT |
p.G343F |
Missense |
9/10 |
- |
1 |
7-44185321-CC-AG |
c.1027_1028delinsCT |
p.G343L |
Missense |
9/10 |
- |
1 |
7-44185321-CC-AT |
c.1027_1028delinsAT |
p.G343I |
Missense |
9/10 |
- |
1 |
7-44185321-CC-GG |
c.1027_1028inv |
p.G343P |
Missense |
9/10 |
- |
1 |
7-44185321-CC-GT |
c.1027_1028delinsAC |
p.G343T |
Missense |
9/10 |
- |
1 |
7-44185321-CC-TA |
c.1027_1028delinsTA |
p.G343Y |
Missense |
9/10 |
- |
1 |
7-44185321-CC-TG |
c.1027_1028delinsCA |
p.G343H |
Missense |
9/10 |
- |
1 |
7-44185321-CC-TT |
c.1027_1028delinsAA |
p.G343N |
Missense |
9/10 |
- |
1 |
7-44185321-C-G |
c.1028G>C |
p.G343A |
Missense |
9/10 |
- |
1 |
7-44185321-C-T |
c.1028G>A |
p.G343D |
Missense |
9/10 |
- |
1 |
7-44185322-C-A |
c.1027G>T |
p.G343C |
Missense |
9/10 |
- |
1 |
7-44185322-C-G |
c.1027G>C |
p.G343R |
Missense |
9/10 |
- |
1 |
7-44185322-C-T |
c.1027G>A |
p.G343S |
Missense |
9/10 |
- |
1 |
7-44185320-GC-G |
c.1028del |
p.G343Afs*10 |
Frameshift |
9/10 |
- |
1 |
7-44185323-CG-GA |
c.1025_1026delinsTC |
p.T342I |
Missense |
9/10 |
- |
1 |
7-44185323-CG-GT |
c.1025_1026delinsAC |
p.T342N |
Missense |
9/10 |
- |
1 |
7-44185323-CGT-AAA |
c.1024_1026delinsTTT |
p.T342F |
Missense |
9/10 |
- |
1 |
7-44185323-CGT-ACA |
c.1024_1026delinsTGT |
p.T342C |
Missense |
9/10 |
- |
1 |
7-44185323-CGT-ATA |
c.1024_1026delinsTAT |
p.T342Y |
Missense |
9/10 |
- |
1 |
7-44185323-CGT-ATG |
c.1024_1026delinsCAT |
p.T342H |
Missense |
9/10 |
- |
1 |
7-44185323-CGT-GTC |
c.1024_1026delinsGAC |
p.T342D |
Missense |
9/10 |
- |
1 |
7-44185324-G-A |
c.1025C>T |
p.T342M |
Missense |
9/10 |
- |
1 |
7-44185324-G-C |
c.1025C>G |
p.T342R |
Missense |
9/10 |
- |
3 |
7-44185324-G-T |
c.1025C>A |
p.T342K |
Missense |
9/10 |
- |
1 |
7-44185324-GT-AC |
c.1024_1025inv |
p.T342V |
Missense |
9/10 |
- |
1 |
7-44185324-GT-AG |
c.1024_1025delinsCT |
p.T342L |
Missense |
9/10 |
- |
1 |
7-44185324-GT-CA |
c.1024_1025delinsTG |
p.T342W |
Missense |
9/10 |
- |
1 |
7-44185324-GT-CC |
c.1024_1025delinsGG |
p.T342G |
Missense |
9/10 |
- |
1 |
7-44185324-GT-TC |
c.1024_1025delinsGA |
p.T342E |
Missense |
9/10 |
- |
1 |
7-44185324-GT-TG |
c.1024_1025delinsCA |
p.T342Q |
Missense |
9/10 |
- |
1 |
7-44185325-T-A |
c.1024A>T |
p.T342S |
Missense |
9/10 |
- |
2 |
7-44185325-T-C |
c.1024A>G |
p.T342A |
Missense |
9/10 |
- |
1 |
7-44185325-T-G |
c.1024A>C |
p.T342P |
Missense |
9/10 |
- |
9 |
7-44185326-G-C |
c.1023C>G |
p.D341E |
Missense |
9/10 |
- |
1 |
7-44185326-G-T |
c.1023C>A |
p.D341E |
Missense |
9/10 |
- |
1 |
7-44185326-GTC-CAT |
c.1021_1023delinsATG |
p.D341M |
Missense |
9/10 |
- |
1 |
7-44185326-GTC-CCA |
c.1021_1023delinsTGG |
p.D341W |
Missense |
9/10 |
- |
1 |
7-44185326-GTC-CTT |
c.1021_1023delinsAAG |
p.D341K |
Missense |
9/10 |
- |
1 |
7-44185326-GTC-TTG |
c.1021_1023delinsCAA |
p.D341Q |
Missense |
9/10 |
- |
1 |
7-44185327-T-A |
c.1022A>T |
p.D341V |
Missense |
9/10 |
- |
1 |
7-44185327-T-C |
c.1022A>G |
p.D341G |
Missense |
9/10 |
- |
1 |
7-44185327-TC-AA |
c.1021_1022delinsTT |
p.D341F |
Missense |
9/10 |
- |
1 |
7-44185327-TC-AG |
c.1021_1022delinsCT |
p.D341L |
Missense |
9/10 |
- |
1 |
7-44185327-TC-AT |
c.1021_1022delinsAT |
p.D341I |
Missense |
9/10 |
- |
1 |
7-44185327-TC-CA |
c.1021_1022delinsTG |
p.D341C |
Missense |
9/10 |
- |
1 |
7-44185327-TC-CG |
c.1021_1022delinsCG |
p.D341R |
Missense |
9/10 |
- |
1 |
7-44185327-TC-CT |
c.1021_1022delinsAG |
p.D341S |
Missense |
9/10 |
- |
1 |
7-44185327-TC-GG |
c.1021_1022delinsCC |
p.D341P |
Missense |
9/10 |
- |
1 |
7-44185327-TC-GT |
c.1021_1022delinsAC |
p.D341T |
Missense |
9/10 |
- |
1 |
7-44185327-T-G |
c.1022A>C |
p.D341A |
Missense |
9/10 |
- |
1 |
7-44185328-C-A |
c.1021G>T |
p.D341Y |
Missense |
9/10 |
- |
1 |
7-44185328-C-G |
c.1021G>C |
p.D341H |
Missense |
9/10 |
- |
1 |
7-44185328-C-T |
c.1021G>A |
p.D341N |
Missense |
9/10 |
- |
1 |
7-44185328-TCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCC-T |
c.1020-57_1021del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
9/10 |
8/9 |
1 |
7-44185329-G-C |
c.1020C>G |
p.S340R |
Missense |
9/10 |
- |
1 |
7-44185329-G-T |
c.1020C>A |
p.S340R |
Missense |
9/10 |
- |
1 |
7-44185382-T-C |
c.1020-53A>G |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44185656-G-A |
c.1020-327C>T |
- |
IntronicSNV |
- |
8/9 |
4 |
7-44185656-G-T |
c.1020-327C>A |
- |
IntronicSNV |
- |
8/9 |
4 |
7-44185758-C-G |
c.1019+304G>C |
- |
IntronicSNV |
- |
8/9 |
5 |
7-44185758-C-T |
c.1019+304G>A |
- |
IntronicSNV |
- |
8/9 |
2 |
7-44185786-GC-G |
c.1019+275del |
- |
IntronicDeletion |
- |
8/9 |
2 |
7-44185805-C-G |
c.1019+257G>C |
- |
IntronicSNV |
- |
8/9 |
3 |
7-44185805-C-T |
c.1019+257G>A |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44185838-C-T |
c.1019+224G>A |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44185866-G-A |
c.1019+196C>T |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44185888-C-A |
c.1019+174G>T |
- |
IntronicSNV |
- |
8/9 |
3 |
7-44185898-G-A |
c.1019+164C>T |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44185908-C-T |
c.1019+154G>A |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44185899-TGCCCCGCCCCGG-T |
c.1019+151_1019+162del |
- |
IntronicDeletion |
- |
8/9 |
1 |
7-44185943-C-T |
c.1019+119G>A |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44185955-A-C |
c.1019+107T>G |
- |
IntronicSNV |
- |
8/9 |
2 |
7-44185955-A-G |
c.1019+107T>C |
- |
IntronicSNV |
- |
8/9 |
4 |
7-44185958-C-T |
c.1019+104G>A |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44185998-A-T |
c.1019+64T>A |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44186044-C-T |
c.1019+18G>A |
- |
IntronicSNV |
- |
8/9 |
2 |
7-44186057-C-G |
c.1019+5G>C |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44186057-C-T |
c.1019+5G>A |
- |
IntronicSNV |
- |
8/9 |
2 |
7-44186060-A-C |
c.1019+2T>G |
- |
IntronicSNV |
- |
8/9 |
5 |
7-44186060-A-G |
c.1019+2T>C |
- |
IntronicSNV |
- |
8/9 |
2 |
7-44186060-A-T |
c.1019+2T>A |
- |
IntronicSNV |
- |
8/9 |
3 |
7-44186061-C-T |
c.1019+1G>A |
- |
IntronicSNV |
- |
8/9 |
1 |
7-44186062-C-A |
c.1019G>T |
p.S340I |
Missense |
8/10 |
- |
9 |
7-44186062-C-G |
c.1019G>C |
p.S340T |
Missense |
8/10 |
- |
7 |
7-44186062-C-T |
c.1019G>A |
p.S340N |
Missense |
8/10 |
- |
3 |
7-44186062-CT-AA |
c.1018_1019delinsTT |
p.S340F |
Missense |
8/10 |
- |
1 |
7-44186062-CT-AC |
c.1018_1019delinsGT |
p.S340V |
Missense |
8/10 |
- |
1 |
7-44186062-CT-AG |
c.1018_1019inv |
p.S340L |
Missense |
8/10 |
- |
1 |
7-44186062-CT-GC |
c.1018_1019delinsGC |
p.S340A |
Missense |
8/10 |
- |
2 |
7-44186062-CT-GG |
c.1018_1019delinsCC |
p.S340P |
Missense |
8/10 |
- |
1 |
7-44186062-CT-TA |
c.1018_1019delinsTA |
p.S340Y |
Missense |
8/10 |
- |
1 |
7-44186062-CT-TC |
c.1018_1019delinsGA |
p.S340D |
Missense |
8/10 |
- |
1 |
7-44186062-CT-TG |
c.1018_1019delinsCA |
p.S340H |
Missense |
8/10 |
- |
1 |
7-44186063-CTCTCCACCTGCGACACGAA-C |
c.1000_1018del |
p.F334Afs*13 |
SpliceDonorDeletion |
8/10 |
- |
2 |
7-44186063-T-A |
c.1018A>T |
p.S340C |
Missense |
8/10 |
- |
1 |
7-44186063-T-C |
c.1018A>G |
p.S340G |
Missense |
8/10 |
- |
7 |
7-44186063-T-G |
c.1018A>C |
p.S340R |
Missense |
8/10 |
- |
3 |
7-44186064-C-A |
c.1017G>T |
p.E339D |
Missense |
8/10 |
- |
1 |
7-44186064-C-G |
c.1017G>C |
p.E339D |
Missense |
8/10 |
- |
1 |
7-44186064-CTC-AAA |
c.1015_1017delinsTTT |
p.E339F |
Missense |
8/10 |
- |
1 |
7-44186064-CTC-ACA |
c.1015_1017delinsTGT |
p.E339C |
Missense |
8/10 |
- |
1 |
7-44186064-CTC-ATA |
c.1015_1017delinsTAT |
p.E339Y |
Missense |
8/10 |
- |
1 |
7-44186064-CTC-ATG |
c.1015_1017delinsCAT |
p.E339H |
Missense |
8/10 |
- |
1 |
7-44186064-CTC-GAT |
c.1015_1017delinsATC |
p.E339I |
Missense |
8/10 |
- |
1 |
7-44186064-CTC-GTT |
c.1015_1017delinsAAC |
p.E339N |
Missense |
8/10 |
- |
1 |
7-44186065-T-A |
c.1016A>T |
p.E339V |
Missense |
8/10 |
- |
1 |
7-44186065-T-C |
c.1016A>G |
p.E339G |
Missense |
8/10 |
- |
10 |
7-44186065-TC-AG |
c.1015_1016delinsCT |
p.E339L |
Missense |
8/10 |
- |
1 |
7-44186065-TC-AT |
c.1015_1016delinsAT |
p.E339M |
Missense |
8/10 |
- |
1 |
7-44186065-TC-CA |
c.1015_1016delinsTG |
p.E339W |
Missense |
8/10 |
- |
1 |
7-44186065-TC-CT |
c.1015_1016delinsAG |
p.E339R |
Missense |
8/10 |
- |
1 |
7-44186065-TC-GA |
c.1015_1016inv |
p.E339S |
Missense |
8/10 |
- |
1 |
7-44186065-TC-GG |
c.1015_1016delinsCC |
p.E339P |
Missense |
8/10 |
- |
1 |
7-44186065-TC-GT |
c.1015_1016delinsAC |
p.E339T |
Missense |
8/10 |
- |
1 |
7-44186065-T-G |
c.1016A>C |
p.E339A |
Missense |
8/10 |
- |
1 |
7-44186066-C-A |
c.1015G>T |
p.E339* |
Nonsense |
8/10 |
- |
1 |
7-44186066-C-G |
c.1015G>C |
p.E339Q |
Missense |
8/10 |
- |
1 |
7-44186066-C-T |
c.1015G>A |
p.E339K |
Missense |
8/10 |
- |
7 |
7-44186065-TC-T |
c.1015del |
p.E339Rfs*14 |
Frameshift |
8/10 |
- |
1 |
7-44186067-CAC-AAA |
c.1012_1014delinsTTT |
p.V338F |
Missense |
8/10 |
- |
1 |
7-44186067-CAC-ACA |
c.1012_1014delinsTGT |
p.V338C |
Missense |
8/10 |
- |
1 |
7-44186067-CAC-ATA |
c.1012_1014delinsTAT |
p.V338Y |
Missense |
8/10 |
- |
1 |
7-44186067-CAC-ATG |
c.1012_1014delinsCAT |
p.V338H |
Missense |
8/10 |
- |
1 |
7-44186067-CAC-GAT |
c.1012_1014delinsATC |
p.V338I |
Missense |
8/10 |
- |
1 |
7-44186067-CAC-GTT |
c.1012_1014delinsAAC |
p.V338N |
Missense |
8/10 |
- |
1 |
7-44186067-CA-GT |
c.1013_1014delinsAC |
p.V338D |
Missense |
8/10 |
- |
1 |
7-44186067-C-T |
c.1014G>A |
p.V338= |
Synonymous |
8/10 |
- |
1 |
7-44186068-A-C |
c.1013T>G |
p.V338G |
Missense |
8/10 |
- |
1 |
7-44186068-AC-CA |
c.1012_1013delinsTG |
p.V338W |
Missense |
8/10 |
- |
1 |
7-44186068-AC-CT |
c.1012_1013delinsAG |
p.V338R |
Missense |
8/10 |
- |
1 |
7-44186068-AC-GA |
c.1012_1013delinsTC |
p.V338S |
Missense |
8/10 |
- |
1 |
7-44186068-AC-GG |
c.1012_1013delinsCC |
p.V338P |
Missense |
8/10 |
- |
1 |
7-44186068-AC-GT |
c.1012_1013inv |
p.V338T |
Missense |
8/10 |
- |
1 |
7-44186068-AC-TG |
c.1012_1013delinsCA |
p.V338Q |
Missense |
8/10 |
- |
1 |
7-44186068-AC-TT |
c.1012_1013delinsAA |
p.V338K |
Missense |
8/10 |
- |
1 |
7-44186068-A-G |
c.1013T>C |
p.V338A |
Missense |
8/10 |
- |
1 |
7-44186068-A-T |
c.1013T>A |
p.V338E |
Missense |
8/10 |
- |
1 |
7-44186069-C-A |
c.1012G>T |
p.V338L |
Missense |
8/10 |
- |
1 |
7-44186069-C-G |
c.1012G>C |
p.V338L |
Missense |
8/10 |
- |
1 |
7-44186069-C-T |
c.1012G>A |
p.V338M |
Missense |
8/10 |
- |
1 |
7-44186070-C-A |
c.1011G>T |
p.Q337H |
Missense |
8/10 |
- |
1 |
7-44186070-C-G |
c.1011G>C |
p.Q337H |
Missense |
8/10 |
- |
1 |
7-44186070-CTG-AAA |
c.1009_1011delinsTTT |
p.Q337F |
Missense |
8/10 |
- |
1 |
7-44186070-CTG-ACA |
c.1009_1011delinsTGT |
p.Q337C |
Missense |
8/10 |
- |
1 |
7-44186070-CTG-ATA |
c.1009_1011delinsTAT |
p.Q337Y |
Missense |
8/10 |
- |
1 |
7-44186070-CTG-GAT |
c.1009_1011delinsATC |
p.Q337I |
Missense |
8/10 |
- |
1 |
7-44186070-CTG-GTC |
c.1009_1011delinsGAC |
p.Q337D |
Missense |
8/10 |
- |
1 |
7-44186070-CTG-GTT |
c.1009_1011delinsAAC |
p.Q337N |
Missense |
8/10 |
- |
1 |
7-44186071-CT-C |
c.1010del |
p.Q337Rfs*16 |
Frameshift |
8/10 |
- |
2 |
7-44186071-T-A |
c.1010A>T |
p.Q337L |
Missense |
8/10 |
- |
1 |
7-44186071-T-C |
c.1010A>G |
p.Q337R |
Missense |
8/10 |
- |
1 |
7-44186071-T-G |
c.1010A>C |
p.Q337P |
Missense |
8/10 |
- |
3 |
7-44186071-TG-AC |
c.1009_1010delinsGT |
p.Q337V |
Missense |
8/10 |
- |
1 |
7-44186071-TG-AT |
c.1009_1010delinsAT |
p.Q337M |
Missense |
8/10 |
- |
1 |
7-44186071-TG-CA |
c.1009_1010inv |
p.Q337W |
Missense |
8/10 |
- |
1 |
7-44186071-TG-CC |
c.1009_1010delinsGG |
p.Q337G |
Missense |
8/10 |
- |
1 |
7-44186071-TG-GA |
c.1009_1010delinsTC |
p.Q337S |
Missense |
8/10 |
- |
1 |
7-44186071-TG-GC |
c.1009_1010delinsGC |
p.Q337A |
Missense |
8/10 |
- |
1 |
7-44186071-TG-GT |
c.1009_1010delinsAC |
p.Q337T |
Missense |
8/10 |
- |
1 |
7-44186072-G-A |
c.1009C>T |
p.Q337* |
Nonsense |
8/10 |
- |
1 |
7-44186072-G-C |
c.1009C>G |
p.Q337E |
Missense |
8/10 |
- |
1 |
7-44186072-G-T |
c.1009C>A |
p.Q337K |
Missense |
8/10 |
- |
1 |
7-44186073-CG-AA |
c.1007_1008delinsTT |
p.S336F |
Missense |
8/10 |
- |
1 |
7-44186073-CGA-ATG |
c.1006_1008delinsCAT |
p.S336H |
Missense |
8/10 |
- |
1 |
7-44186073-CG-AC |
c.1007_1008delinsGT |
p.S336C |
Missense |
8/10 |
- |
1 |
7-44186073-CGA-GAT |
c.1006_1008delinsATC |
p.S336I |
Missense |
8/10 |
- |
1 |
7-44186073-CGA-GTC |
c.1006_1008delinsGAC |
p.S336D |
Missense |
8/10 |
- |
1 |
7-44186073-CGA-GTT |
c.1006_1008delinsAAC |
p.S336N |
Missense |
8/10 |
- |
1 |
7-44186073-CG-AT |
c.1007_1008delinsAT |
p.S336Y |
Missense |
8/10 |
- |
1 |
7-44186074-G-A |
c.1007C>T |
p.S336L |
Missense |
8/10 |
- |
11 |
7-44186074-GA-AC |
c.1006_1007delinsGT |
p.S336V |
Missense |
8/10 |
- |
1 |
7-44186074-GA-AT |
c.1006_1007delinsAT |
p.S336M |
Missense |
8/10 |
- |
1 |
7-44186074-GA-CC |
c.1006_1007delinsGG |
p.S336G |
Missense |
8/10 |
- |
1 |
7-44186074-GA-CT |
c.1006_1007delinsAG |
p.S336R |
Missense |
8/10 |
- |
1 |
7-44186074-GA-TC |
c.1006_1007inv |
p.S336E |
Missense |
8/10 |
- |
1 |
7-44186074-GA-TG |
c.1006_1007delinsCA |
p.S336Q |
Missense |
8/10 |
- |
1 |
7-44186074-GA-TT |
c.1006_1007delinsAA |
p.S336K |
Missense |
8/10 |
- |
1 |
7-44186074-G-C |
c.1007C>G |
p.S336W |
Missense |
8/10 |
- |
4 |
7-44186074-G-T |
c.1007C>A |
p.S336* |
Nonsense |
8/10 |
- |
3 |
7-44186075-A-C |
c.1006T>G |
p.S336A |
Missense |
8/10 |
- |
1 |
7-44186075-A-G |
c.1006T>C |
p.S336P |
Missense |
8/10 |
- |
1 |
7-44186075-A-T |
c.1006T>A |
p.S336T |
Missense |
8/10 |
- |
1 |
7-44186076-CAC-AAA |
c.1003_1005delinsTTT |
p.V335F |
Missense |
8/10 |
- |
1 |
7-44186076-CAC-ACA |
c.1003_1005delinsTGT |
p.V335C |
Missense |
8/10 |
- |
1 |
7-44186076-CAC-ATA |
c.1003_1005delinsTAT |
p.V335Y |
Missense |
8/10 |
- |
1 |
7-44186076-CAC-ATG |
c.1003_1005delinsCAT |
p.V335H |
Missense |
8/10 |
- |
1 |
7-44186076-CAC-GAT |
c.1003_1005delinsATC |
p.V335I |
Missense |
8/10 |
- |
1 |
7-44186076-CAC-GTT |
c.1003_1005delinsAAC |
p.V335N |
Missense |
8/10 |
- |
1 |
7-44186076-CA-GT |
c.1004_1005delinsAC |
p.V335D |
Missense |
8/10 |
- |
1 |
7-44186077-A-ATT |
c.1003_1004insAA |
p.V335Efs*19 |
Frameshift |
8/10 |
- |
1 |
7-44186077-A-C |
c.1004T>G |
p.V335G |
Missense |
8/10 |
- |
1 |
7-44186077-AC-CA |
c.1003_1004delinsTG |
p.V335W |
Missense |
8/10 |
- |
1 |
7-44186077-AC-CT |
c.1003_1004delinsAG |
p.V335R |
Missense |
8/10 |
- |
1 |
7-44186077-AC-GA |
c.1003_1004delinsTC |
p.V335S |
Missense |
8/10 |
- |
1 |
7-44186077-AC-GG |
c.1003_1004delinsCC |
p.V335P |
Missense |
8/10 |
- |
1 |
7-44186077-AC-GT |
c.1003_1004inv |
p.V335T |
Missense |
8/10 |
- |
1 |
7-44186077-AC-TG |
c.1003_1004delinsCA |
p.V335Q |
Missense |
8/10 |
- |
1 |
7-44186077-AC-TT |
c.1003_1004delinsAA |
p.V335K |
Missense |
8/10 |
- |
1 |
7-44186077-A-G |
c.1004T>C |
p.V335A |
Missense |
8/10 |
- |
1 |
7-44186077-A-T |
c.1004T>A |
p.V335E |
Missense |
8/10 |
- |
2 |
7-44186078-AC-A |
c.1003del |
p.V335Cfs*18 |
Frameshift |
8/10 |
- |
1 |
7-44186078-C-A |
c.1003G>T |
p.V335L |
Missense |
8/10 |
- |
1 |
7-44186078-C-G |
c.1003G>C |
p.V335L |
Missense |
8/10 |
- |
1 |
7-44186078-C-T |
c.1003G>A |
p.V335M |
Missense |
8/10 |
- |
2 |
7-44186079-G-A |
c.1002C>T |
p.F334= |
Synonymous |
8/10 |
- |
2 |
7-44186079-GAA-CAT |
c.1000_1002delinsATG |
p.F334M |
Missense |
8/10 |
- |
1 |
7-44186079-GAA-CTC |
c.1000_1002delinsGAG |
p.F334E |
Missense |
8/10 |
- |
1 |
7-44186079-GAA-CTT |
c.1000_1002delinsAAG |
p.F334K |
Missense |
8/10 |
- |
1 |
7-44186079-GAA-TTG |
c.1000_1002delinsCAA |
p.F334Q |
Missense |
8/10 |
- |
1 |
7-44186079-GA-CC |
c.1001_1002delinsGG |
p.F334W |
Missense |
8/10 |
- |
1 |
7-44186079-G-C |
c.1002C>G |
p.F334L |
Missense |
8/10 |
- |
4 |
7-44186080-AA-CC |
c.1000_1001delinsGG |
p.F334G |
Missense |
8/10 |
- |
1 |
7-44186080-AA-CG |
c.1000_1001delinsCG |
p.F334R |
Missense |
8/10 |
- |
1 |
7-44186080-AA-GC |
c.1000_1001delinsGC |
p.F334A |
Missense |
8/10 |
- |
1 |
7-44186080-AA-GG |
c.1000_1001delinsCC |
p.F334P |
Missense |
8/10 |
- |
1 |
7-44186080-AA-GT |
c.1000_1001delinsAC |
p.F334T |
Missense |
8/10 |
- |
1 |
7-44186080-AA-TC |
c.1000_1001delinsGA |
p.F334D |
Missense |
8/10 |
- |
1 |
7-44186080-AA-TG |
c.1000_1001delinsCA |
p.F334H |
Missense |
8/10 |
- |
1 |
7-44186080-AA-TT |
c.1000_1001inv |
p.F334N |
Missense |
8/10 |
- |
1 |
7-44186080-A-C |
c.1001T>G |
p.F334C |
Missense |
8/10 |
- |
1 |
7-44186080-A-G |
c.1001T>C |
p.F334S |
Missense |
8/10 |
- |
1 |
7-44186080-A-T |
c.1001T>A |
p.F334Y |
Missense |
8/10 |
- |
1 |
7-44186079-G-T |
c.1002C>A |
p.F334L |
Missense |
8/10 |
- |
2 |
7-44186081-A-C |
c.1000T>G |
p.F334V |
Missense |
8/10 |
- |
1 |
7-44186081-A-G |
c.1000T>C |
p.F334L |
Missense |
8/10 |
- |
2 |
7-44186081-A-T |
c.1000T>A |
p.F334I |
Missense |
8/10 |
- |
1 |
7-44186082-GCG-CAT |
c.997_999delinsATG |
p.R333M |
Missense |
8/10 |
- |
1 |
7-44186082-GCG-CCA |
c.997_999delinsTGG |
p.R333W |
Missense |
8/10 |
- |
1 |
7-44186082-GCG-CTC |
c.997_999delinsGAG |
p.R333E |
Missense |
8/10 |
- |
1 |
7-44186082-GCG-CTT |
c.997_999delinsAAG |
p.R333K |
Missense |
8/10 |
- |
1 |
7-44186082-GC-TT |
c.998_999delinsAA |
p.R333Q |
Missense |
8/10 |
- |
2 |
7-44186083-C-A |
c.998G>T |
p.R333L |
Missense |
8/10 |
- |
1 |
7-44186083-C-G |
c.998G>C |
p.R333P |
Missense |
8/10 |
- |
1 |
7-44186083-CG-AA |
c.997_998delinsTT |
p.R333F |
Missense |
8/10 |
- |
1 |
7-44186083-CG-AC |
c.997_998delinsGT |
p.R333V |
Missense |
8/10 |
- |
1 |
7-44186083-CG-AT |
c.997_998delinsAT |
p.R333I |
Missense |
8/10 |
- |
1 |
7-44186083-CG-GC |
c.997_998delinsGC |
p.R333A |
Missense |
8/10 |
- |
1 |
7-44186083-CG-GT |
c.997_998delinsAC |
p.R333T |
Missense |
8/10 |
- |
1 |
7-44186083-CG-TA |
c.997_998delinsTA |
p.R333Y |
Missense |
8/10 |
- |
1 |
7-44186083-CG-TC |
c.997_998delinsGA |
p.R333D |
Missense |
8/10 |
- |
1 |
7-44186083-CG-TT |
c.997_998delinsAA |
p.R333N |
Missense |
8/10 |
- |
1 |
7-44186083-C-T |
c.998G>A |
p.R333H |
Missense |
8/10 |
- |
2 |
7-44186084-G-A |
c.997C>T |
p.R333C |
Missense |
8/10 |
- |
3 |
7-44186084-G-C |
c.997C>G |
p.R333G |
Missense |
8/10 |
- |
1 |
7-44186084-G-T |
c.997C>A |
p.R333S |
Missense |
8/10 |
- |
1 |
7-44186085-CG-GA |
c.995_996delinsTC |
p.T332I |
Missense |
8/10 |
- |
1 |
7-44186085-CG-GT |
c.995_996delinsAC |
p.T332N |
Missense |
8/10 |
- |
1 |
7-44186085-CGT-AAA |
c.994_996delinsTTT |
p.T332F |
Missense |
8/10 |
- |
1 |
7-44186085-CGT-ACA |
c.994_996delinsTGT |
p.T332C |
Missense |
8/10 |
- |
1 |
7-44186085-CGT-ATA |
c.994_996delinsTAT |
p.T332Y |
Missense |
8/10 |
- |
1 |
7-44186085-CGT-ATG |
c.994_996delinsCAT |
p.T332H |
Missense |
8/10 |
- |
1 |
7-44186085-CGT-GTC |
c.994_996delinsGAC |
p.T332D |
Missense |
8/10 |
- |
1 |
7-44186086-G-A |
c.995C>T |
p.T332M |
Missense |
8/10 |
- |
2 |
7-44186086-G-C |
c.995C>G |
p.T332R |
Missense |
8/10 |
- |
2 |
7-44186086-G-T |
c.995C>A |
p.T332K |
Missense |
8/10 |
- |
2 |
7-44186086-GT-AC |
c.994_995inv |
p.T332V |
Missense |
8/10 |
- |
1 |
7-44186086-GT-AG |
c.994_995delinsCT |
p.T332L |
Missense |
8/10 |
- |
1 |
7-44186086-GT-CA |
c.994_995delinsTG |
p.T332W |
Missense |
8/10 |
- |
1 |
7-44186086-GT-CC |
c.994_995delinsGG |
p.T332G |
Missense |
8/10 |
- |
1 |
7-44186086-GT-TC |
c.994_995delinsGA |
p.T332E |
Missense |
8/10 |
- |
1 |
7-44186086-GT-TG |
c.994_995delinsCA |
p.T332Q |
Missense |
8/10 |
- |
1 |
7-44186087-T-A |
c.994A>T |
p.T332S |
Missense |
8/10 |
- |
1 |
7-44186087-T-C |
c.994A>G |
p.T332A |
Missense |
8/10 |
- |
1 |
7-44186087-T-G |
c.994A>C |
p.T332P |
Missense |
8/10 |
- |
1 |
7-44186088-C-A |
c.993G>T |
p.E331D |
Missense |
8/10 |
- |
1 |
7-44186088-C-G |
c.993G>C |
p.E331D |
Missense |
8/10 |
- |
1 |
7-44186088-CTC-AAA |
c.991_993delinsTTT |
p.E331F |
Missense |
8/10 |
- |
1 |
7-44186088-CTC-ACA |
c.991_993delinsTGT |
p.E331C |
Missense |
8/10 |
- |
1 |
7-44186088-CTC-ATA |
c.991_993delinsTAT |
p.E331Y |
Missense |
8/10 |
- |
1 |
7-44186088-CTC-ATG |
c.991_993delinsCAT |
p.E331H |
Missense |
8/10 |
- |
1 |
7-44186088-CTC-GAT |
c.991_993delinsATC |
p.E331I |
Missense |
8/10 |
- |
1 |
7-44186088-CTC-GTT |
c.991_993delinsAAC |
p.E331N |
Missense |
8/10 |
- |
1 |
7-44186089-CTCGAAGGCTCCGCGTGTG-C |
c.975_992del |
p.G328_R333del |
InFrameDeletion |
8/10 |
- |
1 |
7-44186089-T-A |
c.992A>T |
p.E331V |
Missense |
8/10 |
- |
1 |
7-44186089-T-C |
c.992A>G |
p.E331G |
Missense |
8/10 |
- |
1 |
7-44186089-TC-AG |
c.991_992delinsCT |
p.E331L |
Missense |
8/10 |
- |
1 |
7-44186089-TC-AT |
c.991_992delinsAT |
p.E331M |
Missense |
8/10 |
- |
1 |
7-44186089-TC-CA |
c.991_992delinsTG |
p.E331W |
Missense |
8/10 |
- |
1 |
7-44186089-TC-CT |
c.991_992delinsAG |
p.E331R |
Missense |
8/10 |
- |
1 |
7-44186089-TC-GA |
c.991_992inv |
p.E331S |
Missense |
8/10 |
- |
1 |
7-44186089-TC-GG |
c.991_992delinsCC |
p.E331P |
Missense |
8/10 |
- |
1 |
7-44186089-TC-GT |
c.991_992delinsAC |
p.E331T |
Missense |
8/10 |
- |
1 |
7-44186089-T-G |
c.992A>C |
p.E331A |
Missense |
8/10 |
- |
1 |
7-44186090-C-A |
c.991G>T |
p.E331* |
Nonsense |
8/10 |
- |
1 |
7-44186090-C-G |
c.991G>C |
p.E331Q |
Missense |
8/10 |
- |
1 |
7-44186090-C-T |
c.991G>A |
p.E331K |
Missense |
8/10 |
- |
2 |
7-44186091-GAA-CAT |
c.988_990delinsATG |
p.F330M |
Missense |
8/10 |
- |
1 |
7-44186091-GAA-CTC |
c.988_990delinsGAG |
p.F330E |
Missense |
8/10 |
- |
1 |
7-44186091-GAA-CTT |
c.988_990delinsAAG |
p.F330K |
Missense |
8/10 |
- |
1 |
7-44186091-GAA-TTG |
c.988_990delinsCAA |
p.F330Q |
Missense |
8/10 |
- |
1 |
7-44186091-GA-CC |
c.989_990delinsGG |
p.F330W |
Missense |
8/10 |
- |
1 |
7-44186092-AA-CC |
c.988_989delinsGG |
p.F330G |
Missense |
8/10 |
- |
1 |
7-44186092-AA-CG |
c.988_989delinsCG |
p.F330R |
Missense |
8/10 |
- |
1 |
7-44186092-AA-GC |
c.988_989delinsGC |
p.F330A |
Missense |
8/10 |
- |
1 |
7-44186092-AA-GG |
c.988_989delinsCC |
p.F330P |
Missense |
8/10 |
- |
1 |
7-44186092-AA-GT |
c.988_989delinsAC |
p.F330T |
Missense |
8/10 |
- |
1 |
7-44186092-AA-TC |
c.988_989delinsGA |
p.F330D |
Missense |
8/10 |
- |
1 |
7-44186092-AA-TG |
c.988_989delinsCA |
p.F330H |
Missense |
8/10 |
- |
1 |
7-44186092-AA-TT |
c.988_989inv |
p.F330N |
Missense |
8/10 |
- |
1 |
7-44186092-A-C |
c.989T>G |
p.F330C |
Missense |
8/10 |
- |
1 |
7-44186092-A-G |
c.989T>C |
p.F330S |
Missense |
8/10 |
- |
8 |
7-44186092-A-T |
c.989T>A |
p.F330Y |
Missense |
8/10 |
- |
4 |
7-44186091-GAAGGCTCCGCGTGTGCGC-G |
c.972_989del |
p.R325_F330del |
InFrameDeletion |
8/10 |
- |
1 |
7-44186091-G-C |
c.990C>G |
p.F330L |
Missense |
8/10 |
- |
2 |
7-44186091-G-T |
c.990C>A |
p.F330L |
Missense |
8/10 |
- |
2 |
7-44186093-A-C |
c.988T>G |
p.F330V |
Missense |
8/10 |
- |
2 |
7-44186093-A-G |
c.988T>C |
p.F330L |
Missense |
8/10 |
- |
2 |
7-44186093-A-T |
c.988T>A |
p.F330I |
Missense |
8/10 |
- |
1 |
7-44186094-G-C |
c.987C>G |
p.A329= |
Synonymous |
8/10 |
- |
1 |
7-44186094-GGC-CAT |
c.985_987delinsATG |
p.A329M |
Missense |
8/10 |
- |
1 |
7-44186094-GGC-CCA |
c.985_987delinsTGG |
p.A329W |
Missense |
8/10 |
- |
1 |
7-44186094-GGC-CTT |
c.985_987delinsAAG |
p.A329K |
Missense |
8/10 |
- |
1 |
7-44186094-GG-CT |
c.986_987delinsAG |
p.A329E |
Missense |
8/10 |
- |
1 |
7-44186094-GGC-TTG |
c.985_987delinsCAA |
p.A329Q |
Missense |
8/10 |
- |
1 |
7-44186095-G-A |
c.986C>T |
p.A329V |
Missense |
8/10 |
- |
2 |
7-44186095-G-C |
c.986C>G |
p.A329G |
Missense |
8/10 |
- |
1 |
7-44186095-GC-AA |
c.985_986delinsTT |
p.A329F |
Missense |
8/10 |
- |
1 |
7-44186095-GC-AG |
c.985_986delinsCT |
p.A329L |
Missense |
8/10 |
- |
1 |
7-44186095-GC-AT |
c.985_986delinsAT |
p.A329I |
Missense |
8/10 |
- |
1 |
7-44186095-GC-CA |
c.985_986delinsTG |
p.A329C |
Missense |
8/10 |
- |
1 |
7-44186095-GC-CG |
c.985_986delinsCG |
p.A329R |
Missense |
8/10 |
- |
1 |
7-44186095-GC-TA |
c.985_986delinsTA |
p.A329Y |
Missense |
8/10 |
- |
1 |
7-44186095-GC-TG |
c.985_986delinsCA |
p.A329H |
Missense |
8/10 |
- |
1 |
7-44186095-GC-TT |
c.985_986delinsAA |
p.A329N |
Missense |
8/10 |
- |
1 |
7-44186095-GGCTCCGCGTGTGCGCAGC-G |
c.969_986del |
p.Q323_A329delinsH |
MultiAAMissense |
8/10 |
- |
1 |
7-44186095-G-T |
c.986C>A |
p.A329D |
Missense |
8/10 |
- |
2 |
7-44186096-C-A |
c.985G>T |
p.A329S |
Missense |
8/10 |
- |
2 |
7-44186096-C-G |
c.985G>C |
p.A329P |
Missense |
8/10 |
- |
1 |
7-44186096-C-T |
c.985G>A |
p.A329T |
Missense |
8/10 |
- |
1 |
7-44186097-TCC-AAA |
c.982_984delinsTTT |
p.G328F |
Missense |
8/10 |
- |
1 |
7-44186097-TCC-ACA |
c.982_984delinsTGT |
p.G328C |
Missense |
8/10 |
- |
1 |
7-44186097-TCC-ATA |
c.982_984delinsTAT |
p.G328Y |
Missense |
8/10 |
- |
1 |
7-44186097-TCC-ATG |
c.982_984delinsCAT |
p.G328H |
Missense |
8/10 |
- |
1 |
7-44186097-TCC-CAT |
c.982_984delinsATG |
p.G328M |
Missense |
8/10 |
- |
1 |
7-44186097-TCC-CCA |
c.982_984delinsTGG |
p.G328W |
Missense |
8/10 |
- |
1 |
7-44186097-TCC-GCT |
c.982_984delinsAGC |
p.G328S |
Missense |
8/10 |
- |
1 |
7-44186097-TCC-GTT |
c.982_984delinsAAC |
p.G328N |
Missense |
8/10 |
- |
1 |
7-44186097-TC-GT |
c.983_984delinsAC |
p.G328D |
Missense |
8/10 |
- |
1 |
7-44186098-C-A |
c.983G>T |
p.G328V |
Missense |
8/10 |
- |
1 |
7-44186098-CC-AG |
c.982_983delinsCT |
p.G328L |
Missense |
8/10 |
- |
1 |
7-44186098-CC-AT |
c.982_983delinsAT |
p.G328I |
Missense |
8/10 |
- |
1 |
7-44186098-CC-GG |
c.982_983inv |
p.G328P |
Missense |
8/10 |
- |
1 |
7-44186098-CC-GT |
c.982_983delinsAC |
p.G328T |
Missense |
8/10 |
- |
1 |
7-44186098-CC-TG |
c.982_983delinsCA |
p.G328Q |
Missense |
8/10 |
- |
1 |
7-44186098-CC-TT |
c.982_983delinsAA |
p.G328K |
Missense |
8/10 |
- |
1 |
7-44186098-C-G |
c.983G>C |
p.G328A |
Missense |
8/10 |
- |
1 |
7-44186098-C-T |
c.983G>A |
p.G328E |
Missense |
8/10 |
- |
2 |
7-44186099-C-G |
c.982G>C |
p.G328R |
Missense |
8/10 |
- |
1 |
7-44186099-C-T |
c.982G>A |
p.G328R |
Missense |
8/10 |
- |
7 |
7-44186100-G-A |
c.981C>T |
p.R327= |
Synonymous |
8/10 |
- |
1 |
7-44186100-GCG-CAT |
c.979_981delinsATG |
p.R327M |
Missense |
8/10 |
- |
1 |
7-44186100-GCG-CCA |
c.979_981delinsTGG |
p.R327W |
Missense |
8/10 |
- |
1 |
7-44186100-GCG-CTC |
c.979_981delinsGAG |
p.R327E |
Missense |
8/10 |
- |
1 |
7-44186100-GCG-CTT |
c.979_981delinsAAG |
p.R327K |
Missense |
8/10 |
- |
1 |
7-44186100-GC-TT |
c.980_981delinsAA |
p.R327Q |
Missense |
8/10 |
- |
1 |
7-44186101-C-A |
c.980G>T |
p.R327L |
Missense |
8/10 |
- |
1 |
7-44186101-C-G |
c.980G>C |
p.R327P |
Missense |
8/10 |
- |
1 |
7-44186101-CG-AA |
c.979_980delinsTT |
p.R327F |
Missense |
8/10 |
- |
1 |
7-44186101-CG-AC |
c.979_980delinsGT |
p.R327V |
Missense |
8/10 |
- |
1 |
7-44186101-CG-AT |
c.979_980delinsAT |
p.R327I |
Missense |
8/10 |
- |
1 |
7-44186101-CG-GC |
c.979_980delinsGC |
p.R327A |
Missense |
8/10 |
- |
1 |
7-44186101-CG-GT |
c.979_980delinsAC |
p.R327T |
Missense |
8/10 |
- |
1 |
7-44186101-CG-TA |
c.979_980delinsTA |
p.R327Y |
Missense |
8/10 |
- |
1 |
7-44186101-CG-TC |
c.979_980delinsGA |
p.R327D |
Missense |
8/10 |
- |
1 |
7-44186101-CG-TT |
c.979_980delinsAA |
p.R327N |
Missense |
8/10 |
- |
1 |
7-44186101-C-T |
c.980G>A |
p.R327H |
Missense |
8/10 |
- |
2 |
7-44186102-G-A |
c.979C>T |
p.R327C |
Missense |
8/10 |
- |
1 |
7-44186102-G-C |
c.979C>G |
p.R327G |
Missense |
8/10 |
- |
1 |
7-44186102-G-T |
c.979C>A |
p.R327S |
Missense |
8/10 |
- |
1 |
7-44186103-T-A |
c.978A>T |
p.T326= |
Synonymous |
8/10 |
- |
1 |
7-44186103-T-C |
c.978A>G |
p.T326= |
Synonymous |
8/10 |
- |
1 |
7-44186103-T-G |
c.978A>C |
p.T326= |
Synonymous |
8/10 |
- |
1 |
7-44186103-TG-CA |
c.977_978inv |
p.T326M |
Missense |
8/10 |
- |
1 |
7-44186103-TG-GT |
c.977_978delinsAC |
p.T326N |
Missense |
8/10 |
- |
1 |
7-44186103-TGT-AAA |
c.976_978delinsTTT |
p.T326F |
Missense |
8/10 |
- |
1 |
7-44186103-TGT-ACA |
c.976_978inv |
p.T326C |
Missense |
8/10 |
- |
1 |
7-44186103-TGT-ATA |
c.976_978delinsTAT |
p.T326Y |
Missense |
8/10 |
- |
1 |
7-44186103-TGT-ATG |
c.976_978delinsCAT |
p.T326H |
Missense |
8/10 |
- |
1 |
7-44186103-TGT-CCA |
c.976_978delinsTGG |
p.T326W |
Missense |
8/10 |
- |
1 |
7-44186103-TGT-GTC |
c.976_978delinsGAC |
p.T326D |
Missense |
8/10 |
- |
1 |
7-44186104-G-A |
c.977C>T |
p.T326I |
Missense |
8/10 |
- |
2 |
7-44186104-G-C |
c.977C>G |
p.T326R |
Missense |
8/10 |
- |
1 |
7-44186104-G-T |
c.977C>A |
p.T326K |
Missense |
8/10 |
- |
1 |
7-44186104-GT-AC |
c.976_977inv |
p.T326V |
Missense |
8/10 |
- |
1 |
7-44186104-GT-AG |
c.976_977delinsCT |
p.T326L |
Missense |
8/10 |
- |
1 |
7-44186104-GT-CC |
c.976_977delinsGG |
p.T326G |
Missense |
8/10 |
- |
1 |
7-44186104-GT-TC |
c.976_977delinsGA |
p.T326E |
Missense |
8/10 |
- |
1 |
7-44186104-GT-TG |
c.976_977delinsCA |
p.T326Q |
Missense |
8/10 |
- |
1 |
7-44186105-T-A |
c.976A>T |
p.T326S |
Missense |
8/10 |
- |
1 |
7-44186105-T-C |
c.976A>G |
p.T326A |
Missense |
8/10 |
- |
1 |
7-44186105-T-G |
c.976A>C |
p.T326P |
Missense |
8/10 |
- |
3 |
7-44186106-GCG-CAT |
c.973_975delinsATG |
p.R325M |
Missense |
8/10 |
- |
1 |
7-44186106-GCG-CCA |
c.973_975delinsTGG |
p.R325W |
Missense |
8/10 |
- |
2 |
7-44186106-GCG-CTC |
c.973_975delinsGAG |
p.R325E |
Missense |
8/10 |
- |
1 |
7-44186106-GCG-CTT |
c.973_975delinsAAG |
p.R325K |
Missense |
8/10 |
- |
1 |
7-44186106-GC-TT |
c.974_975delinsAA |
p.R325Q |
Missense |
8/10 |
- |
1 |
7-44186107-C-A |
c.974G>T |
p.R325L |
Missense |
8/10 |
- |
1 |
7-44186107-C-G |
c.974G>C |
p.R325P |
Missense |
8/10 |
- |
1 |
7-44186107-CG-AA |
c.973_974delinsTT |
p.R325F |
Missense |
8/10 |
- |
1 |
7-44186107-CG-AC |
c.973_974delinsGT |
p.R325V |
Missense |
8/10 |
- |
1 |
7-44186107-CG-AT |
c.973_974delinsAT |
p.R325I |
Missense |
8/10 |
- |
1 |
7-44186107-CG-GC |
c.973_974delinsGC |
p.R325A |
Missense |
8/10 |
- |
1 |
7-44186107-CG-GT |
c.973_974delinsAC |
p.R325T |
Missense |
8/10 |
- |
1 |
7-44186107-CG-TA |
c.973_974delinsTA |
p.R325Y |
Missense |
8/10 |
- |
1 |
7-44186107-CG-TC |
c.973_974delinsGA |
p.R325D |
Missense |
8/10 |
- |
1 |
7-44186107-CG-TT |
c.973_974delinsAA |
p.R325N |
Missense |
8/10 |
- |
1 |
7-44186107-C-T |
c.974G>A |
p.R325H |
Missense |
8/10 |
- |
3 |
7-44186108-G-A |
c.973C>T |
p.R325C |
Missense |
8/10 |
- |
1 |
7-44186108-G-C |
c.973C>G |
p.R325G |
Missense |
8/10 |
- |
1 |
7-44186108-G-T |
c.973C>A |
p.R325S |
Missense |
8/10 |
- |
2 |
7-44186109-CA-AT |
c.971_972delinsAT |
p.L324H |
Missense |
8/10 |
- |
1 |
7-44186109-CAG-AAA |
c.970_972delinsTTT |
p.L324F |
Missense |
8/10 |
- |
1 |
7-44186109-CAG-ACA |
c.970_972delinsTGT |
p.L324C |
Missense |
8/10 |
- |
1 |
7-44186109-CAG-ATA |
c.970_972delinsTAT |
p.L324Y |
Missense |
8/10 |
- |
1 |
7-44186109-CAG-GAT |
c.970_972delinsATC |
p.L324I |
Missense |
8/10 |
- |
1 |
7-44186109-CAG-GTC |
c.970_972delinsGAC |
p.L324D |
Missense |
8/10 |
- |
1 |
7-44186109-CAG-GTT |
c.970_972delinsAAC |
p.L324N |
Missense |
8/10 |
- |
1 |
7-44186110-A-C |
c.971T>G |
p.L324R |
Missense |
8/10 |
- |
1 |
7-44186110-A-G |
c.971T>C |
p.L324P |
Missense |
8/10 |
- |
9 |
7-44186110-AG-CA |
c.970_971delinsTG |
p.L324W |
Missense |
8/10 |
- |
1 |
7-44186110-AG-CC |
c.970_971delinsGG |
p.L324G |
Missense |
8/10 |
- |
1 |
7-44186110-AG-GA |
c.970_971delinsTC |
p.L324S |
Missense |
8/10 |
- |
1 |
7-44186110-AG-GC |
c.970_971delinsGC |
p.L324A |
Missense |
8/10 |
- |
1 |
7-44186110-AG-GT |
c.970_971delinsAC |
p.L324T |
Missense |
8/10 |
- |
1 |
7-44186110-AG-TC |
c.970_971delinsGA |
p.L324E |
Missense |
8/10 |
- |
1 |
7-44186110-AG-TT |
c.970_971delinsAA |
p.L324K |
Missense |
8/10 |
- |
1 |
7-44186110-A-T |
c.971T>A |
p.L324Q |
Missense |
8/10 |
- |
1 |
7-44186111-G-C |
c.970C>G |
p.L324V |
Missense |
8/10 |
- |
1 |
7-44186111-G-T |
c.970C>A |
p.L324M |
Missense |
8/10 |
- |
1 |
7-44186112-C-A |
c.969G>T |
p.Q323H |
Missense |
8/10 |
- |
1 |
7-44186112-C-G |
c.969G>C |
p.Q323H |
Missense |
8/10 |
- |
1 |
7-44186112-CTG-AAA |
c.967_969delinsTTT |
p.Q323F |
Missense |
8/10 |
- |
1 |
7-44186112-CTG-ACA |
c.967_969delinsTGT |
p.Q323C |
Missense |
8/10 |
- |
1 |
7-44186112-CTG-ATA |
c.967_969delinsTAT |
p.Q323Y |
Missense |
8/10 |
- |
1 |
7-44186112-CTG-GAT |
c.967_969delinsATC |
p.Q323I |
Missense |
8/10 |
- |
1 |
7-44186112-CTG-GTC |
c.967_969delinsGAC |
p.Q323D |
Missense |
8/10 |
- |
1 |
7-44186112-CTG-GTT |
c.967_969delinsAAC |
p.Q323N |
Missense |
8/10 |
- |
1 |
7-44186113-T-A |
c.968A>T |
p.Q323L |
Missense |
8/10 |
- |
1 |
7-44186113-T-C |
c.968A>G |
p.Q323R |
Missense |
8/10 |
- |
2 |
7-44186113-T-G |
c.968A>C |
p.Q323P |
Missense |
8/10 |
- |
1 |
7-44186113-TG-AC |
c.967_968delinsGT |
p.Q323V |
Missense |
8/10 |
- |
1 |
7-44186113-TG-AT |
c.967_968delinsAT |
p.Q323M |
Missense |
8/10 |
- |
1 |
7-44186113-TG-CA |
c.967_968inv |
p.Q323W |
Missense |
8/10 |
- |
1 |
7-44186113-TG-CC |
c.967_968delinsGG |
p.Q323G |
Missense |
8/10 |
- |
1 |
7-44186113-TG-GA |
c.967_968delinsTC |
p.Q323S |
Missense |
8/10 |
- |
1 |
7-44186113-TG-GC |
c.967_968delinsGC |
p.Q323A |
Missense |
8/10 |
- |
1 |
7-44186113-TG-GT |
c.967_968delinsAC |
p.Q323T |
Missense |
8/10 |
- |
1 |
7-44186114-G-C |
c.967C>G |
p.Q323E |
Missense |
8/10 |
- |
1 |
7-44186114-G-T |
c.967C>A |
p.Q323K |
Missense |
8/10 |
- |
1 |
7-44186115-C-A |
c.966G>T |
p.E322D |
Missense |
8/10 |
- |
1 |
7-44186115-C-G |
c.966G>C |
p.E322D |
Missense |
8/10 |
- |
1 |
7-44186115-CTC-AAA |
c.964_966delinsTTT |
p.E322F |
Missense |
8/10 |
- |
1 |
7-44186115-CTC-ACA |
c.964_966delinsTGT |
p.E322C |
Missense |
8/10 |
- |
1 |
7-44186115-CTC-ATA |
c.964_966delinsTAT |
p.E322Y |
Missense |
8/10 |
- |
1 |
7-44186115-CTC-ATG |
c.964_966delinsCAT |
p.E322H |
Missense |
8/10 |
- |
1 |
7-44186115-CTC-GAT |
c.964_966delinsATC |
p.E322I |
Missense |
8/10 |
- |
1 |
7-44186115-CTC-GTT |
c.964_966delinsAAC |
p.E322N |
Missense |
8/10 |
- |
1 |
7-44186116-T-A |
c.965A>T |
p.E322V |
Missense |
8/10 |
- |
1 |
7-44186116-T-C |
c.965A>G |
p.E322G |
Missense |
8/10 |
- |
1 |
7-44186116-TC-AG |
c.964_965delinsCT |
p.E322L |
Missense |
8/10 |
- |
1 |
7-44186116-TC-AT |
c.964_965delinsAT |
p.E322M |
Missense |
8/10 |
- |
1 |
7-44186116-TC-CA |
c.964_965delinsTG |
p.E322W |
Missense |
8/10 |
- |
1 |
7-44186116-TC-CT |
c.964_965delinsAG |
p.E322R |
Missense |
8/10 |
- |
1 |
7-44186116-TC-GA |
c.964_965inv |
p.E322S |
Missense |
8/10 |
- |
1 |
7-44186116-TC-GG |
c.964_965delinsCC |
p.E322P |
Missense |
8/10 |
- |
1 |
7-44186116-TC-GT |
c.964_965delinsAC |
p.E322T |
Missense |
8/10 |
- |
1 |
7-44186116-T-G |
c.965A>C |
p.E322A |
Missense |
8/10 |
- |
1 |
7-44186117-C-G |
c.964G>C |
p.E322Q |
Missense |
8/10 |
- |
1 |
7-44186117-C-T |
c.964G>A |
p.E322K |
Missense |
8/10 |
- |
4 |
7-44186118-G-A |
c.963C>T |
p.S321= |
Synonymous |
8/10 |
- |
4 |
7-44186118-G-C |
c.963C>G |
p.S321= |
Synonymous |
8/10 |
- |
6 |
7-44186118-GGA-CAT |
c.961_963delinsATG |
p.S321M |
Missense |
8/10 |
- |
1 |
7-44186118-GGA-CTC |
c.961_963delinsGAG |
p.S321E |
Missense |
8/10 |
- |
1 |
7-44186118-GGA-CTT |
c.961_963delinsAAG |
p.S321K |
Missense |
8/10 |
- |
1 |
7-44186118-GGA-TTG |
c.961_963delinsCAA |
p.S321Q |
Missense |
8/10 |
- |
1 |
7-44186118-GG-CC |
c.962_963inv |
p.S321W |
Missense |
8/10 |
- |
1 |
7-44186118-G-T |
c.963C>A |
p.S321= |
Synonymous |
8/10 |
- |
4 |
7-44186119-G-A |
c.962C>T |
p.S321F |
Missense |
8/10 |
- |
1 |
7-44186119-GA-AC |
c.961_962delinsGT |
p.S321V |
Missense |
8/10 |
- |
1 |
7-44186119-GA-AG |
c.961_962delinsCT |
p.S321L |
Missense |
8/10 |
- |
1 |
7-44186119-GA-AT |
c.961_962delinsAT |
p.S321I |
Missense |
8/10 |
- |
1 |
7-44186119-GA-CC |
c.961_962delinsGG |
p.S321G |
Missense |
8/10 |
- |
1 |
7-44186119-GA-CG |
c.961_962delinsCG |
p.S321R |
Missense |
8/10 |
- |
1 |
7-44186119-GA-TC |
c.961_962inv |
p.S321D |
Missense |
8/10 |
- |
1 |
7-44186119-GA-TG |
c.961_962delinsCA |
p.S321H |
Missense |
8/10 |
- |
1 |
7-44186119-GA-TT |
c.961_962delinsAA |
p.S321N |
Missense |
8/10 |
- |
1 |
7-44186119-G-C |
c.962C>G |
p.S321C |
Missense |
8/10 |
- |
2 |
7-44186119-G-T |
c.962C>A |
p.S321Y |
Missense |
8/10 |
- |
1 |
7-44186120-A-C |
c.961T>G |
p.S321A |
Missense |
8/10 |
- |
1 |
7-44186120-A-G |
c.961T>C |
p.S321P |
Missense |
8/10 |
- |
1 |
7-44186120-A-T |
c.961T>A |
p.S321T |
Missense |
8/10 |
- |
1 |
7-44186121-GGC-CAT |
c.958_960delinsATG |
p.A320M |
Missense |
8/10 |
- |
1 |
7-44186121-GGC-CCA |
c.958_960delinsTGG |
p.A320W |
Missense |
8/10 |
- |
1 |
7-44186121-GGC-CTT |
c.958_960delinsAAG |
p.A320K |
Missense |
8/10 |
- |
1 |
7-44186121-GG-CT |
c.959_960delinsAG |
p.A320E |
Missense |
8/10 |
- |
1 |
7-44186121-GGC-TTG |
c.958_960delinsCAA |
p.A320Q |
Missense |
8/10 |
- |
1 |
7-44186122-G-A |
c.959C>T |
p.A320V |
Missense |
8/10 |
- |
1 |
7-44186122-G-C |
c.959C>G |
p.A320G |
Missense |
8/10 |
- |
1 |
7-44186122-GC-AA |
c.958_959delinsTT |
p.A320F |
Missense |
8/10 |
- |
1 |
7-44186122-GC-AG |
c.958_959delinsCT |
p.A320L |
Missense |
8/10 |
- |
1 |
7-44186122-GC-AT |
c.958_959delinsAT |
p.A320I |
Missense |
8/10 |
- |
1 |
7-44186122-GC-CA |
c.958_959delinsTG |
p.A320C |
Missense |
8/10 |
- |
1 |
7-44186122-GC-CG |
c.958_959delinsCG |
p.A320R |
Missense |
8/10 |
- |
1 |
7-44186122-GC-TA |
c.958_959delinsTA |
p.A320Y |
Missense |
8/10 |
- |
1 |
7-44186122-GC-TG |
c.958_959delinsCA |
p.A320H |
Missense |
8/10 |
- |
1 |
7-44186122-GC-TT |
c.958_959delinsAA |
p.A320N |
Missense |
8/10 |
- |
1 |
7-44186122-G-T |
c.959C>A |
p.A320D |
Missense |
8/10 |
- |
1 |
7-44186123-C-A |
c.958G>T |
p.A320S |
Missense |
8/10 |
- |
1 |
7-44186123-C-G |
c.958G>C |
p.A320P |
Missense |
8/10 |
- |
1 |
7-44186123-C-T |
c.958G>A |
p.A320T |
Missense |
8/10 |
- |
1 |
7-44186124-C-A |
c.957G>T |
p.E319D |
Missense |
8/10 |
- |
1 |
7-44186124-C-G |
c.957G>C |
p.E319D |
Missense |
8/10 |
- |
1 |
7-44186124-C-T |
c.957G>A |
p.E319= |
Synonymous |
8/10 |
- |
1 |
7-44186124-CTC-AAA |
c.955_957delinsTTT |
p.E319F |
Missense |
8/10 |
- |
1 |
7-44186124-CTC-ACA |
c.955_957delinsTGT |
p.E319C |
Missense |
8/10 |
- |
1 |
7-44186124-CTC-ATA |
c.955_957delinsTAT |
p.E319Y |
Missense |
8/10 |
- |
1 |
7-44186124-CTC-ATG |
c.955_957delinsCAT |
p.E319H |
Missense |
8/10 |
- |
1 |
7-44186124-CTC-GAT |
c.955_957delinsATC |
p.E319I |
Missense |
8/10 |
- |
1 |
7-44186124-CTC-GTT |
c.955_957delinsAAC |
p.E319N |
Missense |
8/10 |
- |
1 |
7-44186125-T-A |
c.956A>T |
p.E319V |
Missense |
8/10 |
- |
1 |
7-44186125-T-C |
c.956A>G |
p.E319G |
Missense |
8/10 |
- |
1 |
7-44186125-TC-AG |
c.955_956delinsCT |
p.E319L |
Missense |
8/10 |
- |
1 |
7-44186125-TC-AT |
c.955_956delinsAT |
p.E319M |
Missense |
8/10 |
- |
1 |
7-44186125-TC-CA |
c.955_956delinsTG |
p.E319W |
Missense |
8/10 |
- |
1 |
7-44186125-TC-CT |
c.955_956delinsAG |
p.E319R |
Missense |
8/10 |
- |
1 |
7-44186125-TC-GA |
c.955_956inv |
p.E319S |
Missense |
8/10 |
- |
1 |
7-44186125-TC-GG |
c.955_956delinsCC |
p.E319P |
Missense |
8/10 |
- |
1 |
7-44186125-TC-GT |
c.955_956delinsAC |
p.E319T |
Missense |
8/10 |
- |
1 |
7-44186125-T-G |
c.956A>C |
p.E319A |
Missense |
8/10 |
- |
1 |
7-44186126-C-G |
c.955G>C |
p.E319Q |
Missense |
8/10 |
- |
2 |
7-44186126-C-T |
c.955G>A |
p.E319K |
Missense |
8/10 |
- |
2 |
7-44186127-CCC-AAA |
c.952_954delinsTTT |
p.G318F |
Missense |
8/10 |
- |
1 |
7-44186127-CCC-ACA |
c.952_954delinsTGT |
p.G318C |
Missense |
8/10 |
- |
1 |
7-44186127-CCC-ATA |
c.952_954delinsTAT |
p.G318Y |
Missense |
8/10 |
- |
1 |
7-44186127-CCC-ATG |
c.952_954delinsCAT |
p.G318H |
Missense |
8/10 |
- |
1 |
7-44186127-CCC-GAT |
c.952_954delinsATC |
p.G318I |
Missense |
8/10 |
- |
1 |
7-44186127-CCC-GCT |
c.952_954delinsAGC |
p.G318S |
Missense |
8/10 |
- |
1 |
7-44186127-CCC-GTT |
c.952_954delinsAAC |
p.G318N |
Missense |
8/10 |
- |
1 |
7-44186127-CC-GT |
c.953_954delinsAC |
p.G318D |
Missense |
8/10 |
- |
1 |
7-44186127-C-G |
c.954G>C |
p.G318= |
Synonymous |
8/10 |
- |
1 |
7-44186128-C-A |
c.953G>T |
p.G318V |
Missense |
8/10 |
- |
1 |
7-44186128-CC-AG |
c.952_953delinsCT |
p.G318L |
Missense |
8/10 |
- |
1 |
7-44186128-CC-AT |
c.952_953delinsAT |
p.G318M |
Missense |
8/10 |
- |
1 |
7-44186128-CC-GG |
c.952_953inv |
p.G318P |
Missense |
8/10 |
- |
1 |
7-44186128-CC-GT |
c.952_953delinsAC |
p.G318T |
Missense |
8/10 |
- |
1 |
7-44186128-CC-TG |
c.952_953delinsCA |
p.G318Q |
Missense |
8/10 |
- |
1 |
7-44186128-CC-TT |
c.952_953delinsAA |
p.G318K |
Missense |
8/10 |
- |
1 |
7-44186128-C-G |
c.953G>C |
p.G318A |
Missense |
8/10 |
- |
2 |
7-44186128-C-T |
c.953G>A |
p.G318E |
Missense |
8/10 |
- |
1 |
7-44186129-C-A |
c.952G>T |
p.G318W |
Missense |
8/10 |
- |
5 |
7-44186129-C-G |
c.952G>C |
p.G318R |
Missense |
8/10 |
- |
6 |
7-44186129-C-T |
c.952G>A |
p.G318R |
Missense |
8/10 |
- |
13 |
7-44186127-CCCGTGGAAGAGCAGGTTTTCGTCCACGAG-C |
c.925_953del |
p.L309Gfs*140 |
Frameshift |
8/10 |
- |
1 |
7-44186130-CG-C |
c.951del |
p.H317Qfs*36 |
Frameshift |
8/10 |
- |
1 |
7-44186130-G-C |
c.951C>G |
p.H317Q |
Missense |
8/10 |
- |
4 |
7-44186130-G-T |
c.951C>A |
p.H317Q |
Missense |
8/10 |
- |
1 |
7-44186130-GTG-CAT |
c.949_951delinsATG |
p.H317M |
Missense |
8/10 |
- |
1 |
7-44186130-GTG-CCA |
c.949_951delinsTGG |
p.H317W |
Missense |
8/10 |
- |
1 |
7-44186130-GTG-CTC |
c.949_951delinsGAG |
p.H317E |
Missense |
8/10 |
- |
1 |
7-44186130-GTG-CTT |
c.949_951delinsAAG |
p.H317K |
Missense |
8/10 |
- |
1 |
7-44186131-T-A |
c.950A>T |
p.H317L |
Missense |
8/10 |
- |
1 |
7-44186131-T-C |
c.950A>G |
p.H317R |
Missense |
8/10 |
- |
1 |
7-44186131-T-G |
c.950A>C |
p.H317P |
Missense |
8/10 |
- |
1 |
7-44186131-TG-AA |
c.949_950delinsTT |
p.H317F |
Missense |
8/10 |
- |
1 |
7-44186131-TG-AC |
c.949_950delinsGT |
p.H317V |
Missense |
8/10 |
- |
1 |
7-44186131-TG-AT |
c.949_950delinsAT |
p.H317I |
Missense |
8/10 |
- |
1 |
7-44186131-TG-CA |
c.949_950inv |
p.H317C |
Missense |
8/10 |
- |
1 |
7-44186131-TG-CC |
c.949_950delinsGG |
p.H317G |
Missense |
8/10 |
- |
1 |
7-44186131-TG-CT |
c.949_950delinsAG |
p.H317S |
Missense |
8/10 |
- |
1 |
7-44186131-TG-GC |
c.949_950delinsGC |
p.H317A |
Missense |
8/10 |
- |
1 |
7-44186131-TG-GT |
c.949_950delinsAC |
p.H317T |
Missense |
8/10 |
- |
1 |
7-44186132-G-A |
c.949C>T |
p.H317Y |
Missense |
8/10 |
- |
1 |
7-44186132-G-C |
c.949C>G |
p.H317D |
Missense |
8/10 |
- |
1 |
7-44186132-G-T |
c.949C>A |
p.H317N |
Missense |
8/10 |
- |
1 |
7-44186133-GAA-CAT |
c.946_948delinsATG |
p.F316M |
Missense |
8/10 |
- |
1 |
7-44186133-GAA-CTC |
c.946_948delinsGAG |
p.F316E |
Missense |
8/10 |
- |
1 |
7-44186133-GAA-CTT |
c.946_948delinsAAG |
p.F316K |
Missense |
8/10 |
- |
1 |
7-44186133-GAA-TTG |
c.946_948delinsCAA |
p.F316Q |
Missense |
8/10 |
- |
1 |
7-44186133-GA-CC |
c.947_948delinsGG |
p.F316W |
Missense |
8/10 |
- |
1 |
7-44186134-AA-CC |
c.946_947delinsGG |
p.F316G |
Missense |
8/10 |
- |
1 |
7-44186134-AA-CG |
c.946_947delinsCG |
p.F316R |
Missense |
8/10 |
- |
1 |
7-44186134-AA-GC |
c.946_947delinsGC |
p.F316A |
Missense |
8/10 |
- |
1 |
7-44186134-AA-GG |
c.946_947delinsCC |
p.F316P |
Missense |
8/10 |
- |
1 |
7-44186134-AA-GT |
c.946_947delinsAC |
p.F316T |
Missense |
8/10 |
- |
1 |
7-44186134-AA-TC |
c.946_947delinsGA |
p.F316D |
Missense |
8/10 |
- |
1 |
7-44186134-AA-TG |
c.946_947delinsCA |
p.F316H |
Missense |
8/10 |
- |
1 |
7-44186134-AA-TT |
c.946_947inv |
p.F316N |
Missense |
8/10 |
- |
1 |
7-44186134-A-C |
c.947T>G |
p.F316C |
Missense |
8/10 |
- |
1 |
7-44186134-A-G |
c.947T>C |
p.F316S |
Missense |
8/10 |
- |
1 |
7-44186134-A-T |
c.947T>A |
p.F316Y |
Missense |
8/10 |
- |
4 |
7-44186133-G-C |
c.948C>G |
p.F316L |
Missense |
8/10 |
- |
1 |
7-44186133-G-T |
c.948C>A |
p.F316L |
Missense |
8/10 |
- |
1 |
7-44186135-A-C |
c.946T>G |
p.F316V |
Missense |
8/10 |
- |
3 |
7-44186135-A-G |
c.946T>C |
p.F316L |
Missense |
8/10 |
- |
1 |
7-44186135-A-T |
c.946T>A |
p.F316I |
Missense |
8/10 |
- |
1 |
7-44186136-GAG-CAT |
c.943_945delinsATG |
p.L315M |
Missense |
8/10 |
- |
1 |
7-44186136-GAG-CCA |
c.943_945delinsTGG |
p.L315W |
Missense |
8/10 |
- |
1 |
7-44186136-GAG-CTC |
c.943_945inv |
p.L315E |
Missense |
8/10 |
- |
1 |
7-44186136-GAG-CTT |
c.943_945delinsAAG |
p.L315K |
Missense |
8/10 |
- |
1 |
7-44186136-GA-TT |
c.944_945delinsAA |
p.L315Q |
Missense |
8/10 |
- |
1 |
7-44186137-A-C |
c.944T>G |
p.L315R |
Missense |
8/10 |
- |
1 |
7-44186137-A-G |
c.944T>C |
p.L315P |
Missense |
8/10 |
- |
2 |
7-44186137-AG-CA |
c.943_944delinsTG |
p.L315C |
Missense |
8/10 |
- |
1 |
7-44186137-AG-CC |
c.943_944delinsGG |
p.L315G |
Missense |
8/10 |
- |
1 |
7-44186137-AG-CT |
c.943_944inv |
p.L315S |
Missense |
8/10 |
- |
1 |
7-44186137-AG-GC |
c.943_944delinsGC |
p.L315A |
Missense |
8/10 |
- |
1 |
7-44186137-AG-GT |
c.943_944delinsAC |
p.L315T |
Missense |
8/10 |
- |
1 |
7-44186137-AG-TA |
c.943_944delinsTA |
p.L315Y |
Missense |
8/10 |
- |
1 |
7-44186137-AG-TC |
c.943_944delinsGA |
p.L315D |
Missense |
8/10 |
- |
1 |
7-44186137-AG-TT |
c.943_944delinsAA |
p.L315N |
Missense |
8/10 |
- |
1 |
7-44186137-A-T |
c.944T>A |
p.L315H |
Missense |
8/10 |
- |
8 |
7-44186138-G-A |
c.943C>T |
p.L315F |
Missense |
8/10 |
- |
5 |
7-44186138-G-C |
c.943C>G |
p.L315V |
Missense |
8/10 |
- |
1 |
7-44186138-G-T |
c.943C>A |
p.L315I |
Missense |
8/10 |
- |
1 |
7-44186139-C-A |
c.942G>T |
p.L314= |
Synonymous |
8/10 |
- |
1 |
7-44186139-CA-AT |
c.941_942delinsAT |
p.L314H |
Missense |
8/10 |
- |
2 |
7-44186139-CAG-AAA |
c.940_942delinsTTT |
p.L314F |
Missense |
8/10 |
- |
1 |
7-44186139-CAG-ACA |
c.940_942delinsTGT |
p.L314C |
Missense |
8/10 |
- |
1 |
7-44186139-CAG-ATA |
c.940_942delinsTAT |
p.L314Y |
Missense |
8/10 |
- |
1 |
7-44186139-CAG-GAT |
c.940_942delinsATC |
p.L314I |
Missense |
8/10 |
- |
1 |
7-44186139-CAG-GTC |
c.940_942delinsGAC |
p.L314D |
Missense |
8/10 |
- |
1 |
7-44186139-CAG-GTT |
c.940_942delinsAAC |
p.L314N |
Missense |
8/10 |
- |
1 |
7-44186139-C-G |
c.942G>C |
p.L314= |
Synonymous |
8/10 |
- |
1 |
7-44186139-C-T |
c.942G>A |
p.L314= |
Synonymous |
8/10 |
- |
1 |
7-44186141-G-A |
c.940C>T |
p.L314= |
Synonymous |
8/10 |
- |
1 |
7-44186140-A-ATTTC |
c.940_941insGAAA |
p.L314Rfs*146 |
Frameshift |
8/10 |
- |
1 |
7-44186140-A-C |
c.941T>G |
p.L314R |
Missense |
8/10 |
- |
2 |
7-44186140-A-G |
c.941T>C |
p.L314P |
Missense |
8/10 |
- |
6 |
7-44186140-AG-CA |
c.940_941delinsTG |
p.L314W |
Missense |
8/10 |
- |
1 |
7-44186140-AG-CC |
c.940_941delinsGG |
p.L314G |
Missense |
8/10 |
- |
1 |
7-44186140-AG-GA |
c.940_941delinsTC |
p.L314S |
Missense |
8/10 |
- |
1 |
7-44186140-AG-GC |
c.940_941delinsGC |
p.L314A |
Missense |
8/10 |
- |
1 |
7-44186140-AG-GT |
c.940_941delinsAC |
p.L314T |
Missense |
8/10 |
- |
1 |
7-44186140-AG-TC |
c.940_941delinsGA |
p.L314E |
Missense |
8/10 |
- |
1 |
7-44186140-AG-TT |
c.940_941delinsAA |
p.L314K |
Missense |
8/10 |
- |
1 |
7-44186140-A-T |
c.941T>A |
p.L314Q |
Missense |
8/10 |
- |
2 |
7-44186141-G-C |
c.940C>G |
p.L314V |
Missense |
8/10 |
- |
1 |
7-44186141-G-T |
c.940C>A |
p.L314M |
Missense |
8/10 |
- |
1 |
7-44186142-G-C |
c.939C>G |
p.N313K |
Missense |
8/10 |
- |
1 |
7-44186142-G-T |
c.939C>A |
p.N313K |
Missense |
8/10 |
- |
1 |
7-44186142-GT-CA |
c.938_939delinsTG |
p.N313M |
Missense |
8/10 |
- |
1 |
7-44186142-GT-CC |
c.938_939delinsGG |
p.N313R |
Missense |
8/10 |
- |
1 |
7-44186142-GTT-CCA |
c.937_939delinsTGG |
p.N313W |
Missense |
8/10 |
- |
1 |
7-44186142-GTT-CTC |
c.937_939delinsGAG |
p.N313E |
Missense |
8/10 |
- |
1 |
7-44186142-GTT-TTG |
c.937_939delinsCAA |
p.N313Q |
Missense |
8/10 |
- |
1 |
7-44186143-T-A |
c.938A>T |
p.N313I |
Missense |
8/10 |
- |
1 |
7-44186143-T-C |
c.938A>G |
p.N313S |
Missense |
8/10 |
- |
1 |
7-44186143-T-G |
c.938A>C |
p.N313T |
Missense |
8/10 |
- |
1 |
7-44186143-TT-AA |
c.937_938inv |
p.N313F |
Missense |
8/10 |
- |
1 |
7-44186143-TT-AC |
c.937_938delinsGT |
p.N313V |
Missense |
8/10 |
- |
1 |
7-44186143-TT-AG |
c.937_938delinsCT |
p.N313L |
Missense |
8/10 |
- |
1 |
7-44186143-TT-CA |
c.937_938delinsTG |
p.N313C |
Missense |
8/10 |
- |
1 |
7-44186143-TT-CC |
c.937_938delinsGG |
p.N313G |
Missense |
8/10 |
- |
1 |
7-44186143-TT-GC |
c.937_938delinsGC |
p.N313A |
Missense |
8/10 |
- |
1 |
7-44186143-TT-GG |
c.937_938delinsCC |
p.N313P |
Missense |
8/10 |
- |
1 |
7-44186144-T-A |
c.937A>T |
p.N313Y |
Missense |
8/10 |
- |
3 |
7-44186144-T-C |
c.937A>G |
p.N313D |
Missense |
8/10 |
- |
1 |
7-44186144-T-G |
c.937A>C |
p.N313H |
Missense |
8/10 |
- |
1 |
7-44186145-T-A |
c.936A>T |
p.E312D |
Missense |
8/10 |
- |
1 |
7-44186145-T-C |
c.936A>G |
p.E312= |
Synonymous |
8/10 |
- |
2 |
7-44186145-T-G |
c.936A>C |
p.E312D |
Missense |
8/10 |
- |
1 |
7-44186145-TTC-AAA |
c.934_936delinsTTT |
p.E312F |
Missense |
8/10 |
- |
1 |
7-44186145-TTC-ACA |
c.934_936delinsTGT |
p.E312C |
Missense |
8/10 |
- |
1 |
7-44186145-TTC-ATA |
c.934_936delinsTAT |
p.E312Y |
Missense |
8/10 |
- |
1 |
7-44186145-TTC-ATG |
c.934_936delinsCAT |
p.E312H |
Missense |
8/10 |
- |
1 |
7-44186145-TTC-CAT |
c.934_936delinsATG |
p.E312M |
Missense |
8/10 |
- |
1 |
7-44186145-TTC-CCA |
c.934_936delinsTGG |
p.E312W |
Missense |
8/10 |
- |
1 |
7-44186145-TTC-GTT |
c.934_936delinsAAC |
p.E312N |
Missense |
8/10 |
- |
1 |
7-44186142-G-GT |
c.938dup |
p.N313Kfs*146 |
Frameshift |
8/10 |
- |
1 |
7-44186142-GT-G |
c.938del |
p.N313Tfs*40 |
Frameshift |
8/10 |
- |
1 |
7-44186146-T-A |
c.935A>T |
p.E312V |
Missense |
8/10 |
- |
1 |
7-44186146-T-C |
c.935A>G |
p.E312G |
Missense |
8/10 |
- |
1 |
7-44186146-TC-AG |
c.934_935delinsCT |
p.E312L |
Missense |
8/10 |
- |
1 |
7-44186146-TC-AT |
c.934_935delinsAT |
p.E312I |
Missense |
8/10 |
- |
1 |
7-44186146-TC-CT |
c.934_935delinsAG |
p.E312R |
Missense |
8/10 |
- |
1 |
7-44186146-TC-GA |
c.934_935inv |
p.E312S |
Missense |
8/10 |
- |
1 |
7-44186146-TC-GG |
c.934_935delinsCC |
p.E312P |
Missense |
8/10 |
- |
1 |
7-44186146-TC-GT |
c.934_935delinsAC |
p.E312T |
Missense |
8/10 |
- |
1 |
7-44186146-T-G |
c.935A>C |
p.E312A |
Missense |
8/10 |
- |
1 |
7-44186146-T-TTTTC |
c.934_935insGAAA |
p.E312Gfs*148 |
Frameshift |
8/10 |
- |
1 |
7-44186147-C-G |
c.934G>C |
p.E312Q |
Missense |
8/10 |
- |
1 |
7-44186147-C-T |
c.934G>A |
p.E312K |
Missense |
8/10 |
- |
2 |
7-44186147-TC-T |
c.934del |
p.E312Kfs*41 |
Frameshift |
8/10 |
- |
1 |
7-44186148-CGT-C |
c.932_933del |
p.D311Gfs*147 |
Frameshift |
8/10 |
- |
1 |
7-44186148-G-A |
c.933C>T |
p.D311= |
Synonymous |
8/10 |
- |
1 |
7-44186148-G-C |
c.933C>G |
p.D311E |
Missense |
8/10 |
- |
1 |
7-44186148-G-T |
c.933C>A |
p.D311E |
Missense |
8/10 |
- |
1 |
7-44186148-GTC-CAT |
c.931_933delinsATG |
p.D311M |
Missense |
8/10 |
- |
1 |
7-44186148-GTC-CCA |
c.931_933delinsTGG |
p.D311W |
Missense |
8/10 |
- |
1 |
7-44186148-GTC-CTT |
c.931_933delinsAAG |
p.D311K |
Missense |
8/10 |
- |
1 |
7-44186148-GTC-TTG |
c.931_933delinsCAA |
p.D311Q |
Missense |
8/10 |
- |
1 |
7-44186149-T-A |
c.932A>T |
p.D311V |
Missense |
8/10 |
- |
1 |
7-44186149-T-C |
c.932A>G |
p.D311G |
Missense |
8/10 |
- |
1 |
7-44186149-TC-AA |
c.931_932delinsTT |
p.D311F |
Missense |
8/10 |
- |
1 |
7-44186149-TC-AG |
c.931_932delinsCT |
p.D311L |
Missense |
8/10 |
- |
1 |
7-44186149-TC-AT |
c.931_932delinsAT |
p.D311I |
Missense |
8/10 |
- |
1 |
7-44186149-TC-CA |
c.931_932delinsTG |
p.D311C |
Missense |
8/10 |
- |
1 |
7-44186149-TC-CG |
c.931_932delinsCG |
p.D311R |
Missense |
8/10 |
- |
1 |
7-44186149-TC-CT |
c.931_932delinsAG |
p.D311S |
Missense |
8/10 |
- |
1 |
7-44186149-TC-GG |
c.931_932delinsCC |
p.D311P |
Missense |
8/10 |
- |
1 |
7-44186149-TC-GT |
c.931_932delinsAC |
p.D311T |
Missense |
8/10 |
- |
1 |
7-44186149-T-G |
c.932A>C |
p.D311A |
Missense |
8/10 |
- |
1 |
7-44186150-C-A |
c.931G>T |
p.D311Y |
Missense |
8/10 |
- |
1 |
7-44186150-C-CA |
c.930_931insT |
p.D311* |
Nonsense |
8/10 |
- |
1 |
7-44186150-C-G |
c.931G>C |
p.D311H |
Missense |
8/10 |
- |
2 |
7-44186150-C-T |
c.931G>A |
p.D311N |
Missense |
8/10 |
- |
2 |
7-44186150-TCC-T |
c.930_931del |
p.D311Rfs*147 |
Frameshift |
8/10 |
- |
2 |
7-44186151-CAC-AAA |
c.928_930delinsTTT |
p.V310F |
Missense |
8/10 |
- |
1 |
7-44186151-CAC-ACA |
c.928_930delinsTGT |
p.V310C |
Missense |
8/10 |
- |
1 |
7-44186151-CAC-ATA |
c.928_930delinsTAT |
p.V310Y |
Missense |
8/10 |
- |
1 |
7-44186151-CAC-ATG |
c.928_930delinsCAT |
p.V310H |
Missense |
8/10 |
- |
1 |
7-44186151-CAC-GAT |
c.928_930delinsATC |
p.V310I |
Missense |
8/10 |
- |
1 |
7-44186151-CAC-GTT |
c.928_930delinsAAC |
p.V310N |
Missense |
8/10 |
- |
1 |
7-44186151-CA-GT |
c.929_930delinsAC |
p.V310D |
Missense |
8/10 |
- |
1 |
7-44186150-CCA-C |
c.929_930del |
p.V310Gfs*148 |
Frameshift |
8/10 |
- |
1 |
7-44186152-A-C |
c.929T>G |
p.V310G |
Missense |
8/10 |
- |
4 |
7-44186152-AC-CA |
c.928_929delinsTG |
p.V310W |
Missense |
8/10 |
- |
1 |
7-44186152-AC-CT |
c.928_929delinsAG |
p.V310R |
Missense |
8/10 |
- |
1 |
7-44186152-AC-GA |
c.928_929delinsTC |
p.V310S |
Missense |
8/10 |
- |
1 |
7-44186152-AC-GG |
c.928_929delinsCC |
p.V310P |
Missense |
8/10 |
- |
1 |
7-44186152-AC-GT |
c.928_929inv |
p.V310T |
Missense |
8/10 |
- |
1 |
7-44186152-AC-TG |
c.928_929delinsCA |
p.V310Q |
Missense |
8/10 |
- |
1 |
7-44186152-AC-TT |
c.928_929delinsAA |
p.V310K |
Missense |
8/10 |
- |
1 |
7-44186152-A-G |
c.929T>C |
p.V310A |
Missense |
8/10 |
- |
1 |
7-44186152-A-T |
c.929T>A |
p.V310E |
Missense |
8/10 |
- |
1 |
7-44186153-C-A |
c.928G>T |
p.V310L |
Missense |
8/10 |
- |
1 |
7-44186153-C-G |
c.928G>C |
p.V310L |
Missense |
8/10 |
- |
1 |
7-44186153-C-T |
c.928G>A |
p.V310M |
Missense |
8/10 |
- |
1 |
7-44186154-G-A |
c.927C>T |
p.L309= |
Synonymous |
8/10 |
- |
2 |
7-44186154-GAG-CAT |
c.925_927delinsATG |
p.L309M |
Missense |
8/10 |
- |
1 |
7-44186154-GAG-CCA |
c.925_927delinsTGG |
p.L309W |
Missense |
8/10 |
- |
1 |
7-44186154-GAG-CTC |
c.925_927inv |
p.L309E |
Missense |
8/10 |
- |
1 |
7-44186154-GAG-CTT |
c.925_927delinsAAG |
p.L309K |
Missense |
8/10 |
- |
1 |
7-44186154-GA-TT |
c.926_927delinsAA |
p.L309Q |
Missense |
8/10 |
- |
1 |
7-44186153-CGA-C |
c.926_927del |
p.L309Rfs*149 |
Frameshift |
8/10 |
- |
1 |
7-44186155-A-C |
c.926T>G |
p.L309R |
Missense |
8/10 |
- |
2 |
7-44186155-A-G |
c.926T>C |
p.L309P |
Missense |
8/10 |
- |
5 |
7-44186155-AG-CA |
c.925_926delinsTG |
p.L309C |
Missense |
8/10 |
- |
1 |
7-44186155-AG-CC |
c.925_926delinsGG |
p.L309G |
Missense |
8/10 |
- |
1 |
7-44186155-AG-CT |
c.925_926inv |
p.L309S |
Missense |
8/10 |
- |
1 |
7-44186155-AG-GC |
c.925_926delinsGC |
p.L309A |
Missense |
8/10 |
- |
1 |
7-44186155-AG-GT |
c.925_926delinsAC |
p.L309T |
Missense |
8/10 |
- |
1 |
7-44186155-AG-TA |
c.925_926delinsTA |
p.L309Y |
Missense |
8/10 |
- |
1 |
7-44186155-AG-TC |
c.925_926delinsGA |
p.L309D |
Missense |
8/10 |
- |
1 |
7-44186155-AG-TT |
c.925_926delinsAA |
p.L309N |
Missense |
8/10 |
- |
1 |
7-44186155-A-T |
c.926T>A |
p.L309H |
Missense |
8/10 |
- |
2 |
7-44186156-G-A |
c.925C>T |
p.L309F |
Missense |
8/10 |
- |
2 |
7-44186156-G-C |
c.925C>G |
p.L309V |
Missense |
8/10 |
- |
1 |
7-44186156-G-T |
c.925C>A |
p.L309I |
Missense |
8/10 |
- |
2 |
7-44186157-C-A |
c.924G>T |
p.R308S |
Missense |
8/10 |
- |
2 |
7-44186157-CC-GA |
c.923_924delinsTC |
p.R308I |
Missense |
8/10 |
- |
1 |
7-44186157-CC-GT |
c.923_924delinsAC |
p.R308N |
Missense |
8/10 |
- |
1 |
7-44186157-CCT-AAA |
c.922_924delinsTTT |
p.R308F |
Missense |
8/10 |
- |
1 |
7-44186157-CCT-ACA |
c.922_924delinsTGT |
p.R308C |
Missense |
8/10 |
- |
1 |
7-44186157-CCT-ATA |
c.922_924delinsTAT |
p.R308Y |
Missense |
8/10 |
- |
1 |
7-44186157-CCT-ATG |
c.922_924delinsCAT |
p.R308H |
Missense |
8/10 |
- |
3 |
7-44186157-CCT-GTC |
c.922_924delinsGAC |
p.R308D |
Missense |
8/10 |
- |
1 |
7-44186157-C-G |
c.924G>C |
p.R308S |
Missense |
8/10 |
- |
1 |
7-44186158-C-A |
c.923G>T |
p.R308M |
Missense |
8/10 |
- |
1 |
7-44186158-C-G |
c.923G>C |
p.R308T |
Missense |
8/10 |
- |
1 |
7-44186158-C-T |
c.923G>A |
p.R308K |
Missense |
8/10 |
- |
4 |
7-44186158-CT-AC |
c.922_923delinsGT |
p.R308V |
Missense |
8/10 |
- |
1 |
7-44186158-CT-AG |
c.922_923inv |
p.R308L |
Missense |
8/10 |
- |
1 |
7-44186158-CT-GC |
c.922_923delinsGC |
p.R308A |
Missense |
8/10 |
- |
1 |
7-44186158-CT-GG |
c.922_923delinsCC |
p.R308P |
Missense |
8/10 |
- |
2 |
7-44186158-CT-TC |
c.922_923delinsGA |
p.R308E |
Missense |
8/10 |
- |
1 |
7-44186158-CT-TG |
c.922_923delinsCA |
p.R308Q |
Missense |
8/10 |
- |
1 |
7-44186159-T-A |
c.922A>T |
p.R308W |
Missense |
8/10 |
- |
3 |
7-44186159-T-C |
c.922A>G |
p.R308G |
Missense |
8/10 |
- |
1 |
7-44186160-G-A |
c.921C>T |
p.L307= |
Synonymous |
8/10 |
- |
1 |
7-44186160-GAG-CAT |
c.919_921delinsATG |
p.L307M |
Missense |
8/10 |
- |
1 |
7-44186160-GAG-CCA |
c.919_921delinsTGG |
p.L307W |
Missense |
8/10 |
- |
1 |
7-44186160-GAG-CTC |
c.919_921inv |
p.L307E |
Missense |
8/10 |
- |
1 |
7-44186160-GAG-CTT |
c.919_921delinsAAG |
p.L307K |
Missense |
8/10 |
- |
1 |
7-44186160-GA-TT |
c.920_921delinsAA |
p.L307Q |
Missense |
8/10 |
- |
1 |
7-44186160-G-C |
c.921C>G |
p.L307= |
Synonymous |
8/10 |
- |
1 |
7-44186160-G-T |
c.921C>A |
p.L307= |
Synonymous |
8/10 |
- |
1 |
7-44186161-A-C |
c.920T>G |
p.L307R |
Missense |
8/10 |
- |
1 |
7-44186161-A-G |
c.920T>C |
p.L307P |
Missense |
8/10 |
- |
2 |
7-44186161-AG-CA |
c.919_920delinsTG |
p.L307C |
Missense |
8/10 |
- |
1 |
7-44186161-AG-CC |
c.919_920delinsGG |
p.L307G |
Missense |
8/10 |
- |
1 |
7-44186161-AG-CT |
c.919_920inv |
p.L307S |
Missense |
8/10 |
- |
1 |
7-44186161-AG-GC |
c.919_920delinsGC |
p.L307A |
Missense |
8/10 |
- |
1 |
7-44186161-AG-GT |
c.919_920delinsAC |
p.L307T |
Missense |
8/10 |
- |
1 |
7-44186161-AG-TA |
c.919_920delinsTA |
p.L307Y |
Missense |
8/10 |
- |
1 |
7-44186161-AG-TC |
c.919_920delinsGA |
p.L307D |
Missense |
8/10 |
- |
1 |
7-44186161-AG-TT |
c.919_920delinsAA |
p.L307N |
Missense |
8/10 |
- |
1 |
7-44186161-A-T |
c.920T>A |
p.L307H |
Missense |
8/10 |
- |
1 |
7-44186162-G-A |
c.919C>T |
p.L307F |
Missense |
8/10 |
- |
4 |
7-44186162-G-C |
c.919C>G |
p.L307V |
Missense |
8/10 |
- |
1 |
7-44186162-G-T |
c.919C>A |
p.L307I |
Missense |
8/10 |
- |
1 |
7-44186163-C-A |
c.918G>T |
p.L306= |
Synonymous |
8/10 |
- |
1 |
7-44186163-CA-AT |
c.917_918delinsAT |
p.L306H |
Missense |
8/10 |
- |
1 |
7-44186163-CAG-AAA |
c.916_918delinsTTT |
p.L306F |
Missense |
8/10 |
- |
1 |
7-44186163-CAG-ACA |
c.916_918delinsTGT |
p.L306C |
Missense |
8/10 |
- |
1 |
7-44186163-CAG-ATA |
c.916_918delinsTAT |
p.L306Y |
Missense |
8/10 |
- |
1 |
7-44186163-CAG-GAT |
c.916_918delinsATC |
p.L306I |
Missense |
8/10 |
- |
1 |
7-44186163-CAG-GTC |
c.916_918delinsGAC |
p.L306D |
Missense |
8/10 |
- |
1 |
7-44186163-CAG-GTT |
c.916_918delinsAAC |
p.L306N |
Missense |
8/10 |
- |
1 |
7-44186163-C-G |
c.918G>C |
p.L306= |
Synonymous |
8/10 |
- |
1 |
7-44186163-C-T |
c.918G>A |
p.L306= |
Synonymous |
8/10 |
- |
1 |
7-44186165-G-A |
c.916C>T |
p.L306= |
Synonymous |
8/10 |
- |
1 |
7-44186164-A-C |
c.917T>G |
p.L306R |
Missense |
8/10 |
- |
3 |
7-44186164-A-G |
c.917T>C |
p.L306P |
Missense |
8/10 |
- |
6 |
7-44186164-AG-CA |
c.916_917delinsTG |
p.L306W |
Missense |
8/10 |
- |
1 |
7-44186164-AG-CC |
c.916_917delinsGG |
p.L306G |
Missense |
8/10 |
- |
1 |
7-44186164-AG-GA |
c.916_917delinsTC |
p.L306S |
Missense |
8/10 |
- |
1 |
7-44186164-AG-GC |
c.916_917delinsGC |
p.L306A |
Missense |
8/10 |
- |
1 |
7-44186164-AG-GT |
c.916_917delinsAC |
p.L306T |
Missense |
8/10 |
- |
1 |
7-44186164-AG-TC |
c.916_917delinsGA |
p.L306E |
Missense |
8/10 |
- |
1 |
7-44186164-AG-TT |
c.916_917delinsAA |
p.L306K |
Missense |
8/10 |
- |
1 |
7-44186164-A-T |
c.917T>A |
p.L306Q |
Missense |
8/10 |
- |
1 |
7-44186165-G-C |
c.916C>G |
p.L306V |
Missense |
8/10 |
- |
1 |
7-44186165-G-T |
c.916C>A |
p.L306M |
Missense |
8/10 |
- |
1 |
7-44186166-CAC-AAA |
c.913_915delinsTTT |
p.V305F |
Missense |
8/10 |
- |
1 |
7-44186166-CAC-ACA |
c.913_915delinsTGT |
p.V305C |
Missense |
8/10 |
- |
1 |
7-44186166-CAC-ATA |
c.913_915delinsTAT |
p.V305Y |
Missense |
8/10 |
- |
1 |
7-44186166-CAC-ATG |
c.913_915delinsCAT |
p.V305H |
Missense |
8/10 |
- |
1 |
7-44186166-CAC-GAT |
c.913_915delinsATC |
p.V305I |
Missense |
8/10 |
- |
1 |
7-44186166-CAC-GTT |
c.913_915delinsAAC |
p.V305N |
Missense |
8/10 |
- |
1 |
7-44186166-CA-GT |
c.914_915delinsAC |
p.V305D |
Missense |
8/10 |
- |
1 |
7-44186167-A-C |
c.914T>G |
p.V305G |
Missense |
8/10 |
- |
1 |
7-44186167-AC-CA |
c.913_914delinsTG |
p.V305W |
Missense |
8/10 |
- |
1 |
7-44186167-AC-CT |
c.913_914delinsAG |
p.V305R |
Missense |
8/10 |
- |
1 |
7-44186167-AC-GA |
c.913_914delinsTC |
p.V305S |
Missense |
8/10 |
- |
1 |
7-44186167-AC-GG |
c.913_914delinsCC |
p.V305P |
Missense |
8/10 |
- |
1 |
7-44186167-AC-GT |
c.913_914inv |
p.V305T |
Missense |
8/10 |
- |
1 |
7-44186167-AC-TG |
c.913_914delinsCA |
p.V305Q |
Missense |
8/10 |
- |
1 |
7-44186167-AC-TT |
c.913_914delinsAA |
p.V305K |
Missense |
8/10 |
- |
1 |
7-44186167-A-G |
c.914T>C |
p.V305A |
Missense |
8/10 |
- |
1 |
7-44186167-A-T |
c.914T>A |
p.V305E |
Missense |
8/10 |
- |
1 |
7-44186168-C-A |
c.913G>T |
p.V305L |
Missense |
8/10 |
- |
3 |
7-44186168-C-G |
c.913G>C |
p.V305L |
Missense |
8/10 |
- |
3 |
7-44186168-C-T |
c.913G>A |
p.V305M |
Missense |
8/10 |
- |
1 |
7-44186169-AAG-CAT |
c.910_912delinsATG |
p.L304M |
Missense |
8/10 |
- |
1 |
7-44186169-AAG-CCA |
c.910_912delinsTGG |
p.L304W |
Missense |
8/10 |
- |
1 |
7-44186169-AAG-CTC |
c.910_912delinsGAG |
p.L304E |
Missense |
8/10 |
- |
1 |
7-44186169-AAG-CTT |
c.910_912inv |
p.L304K |
Missense |
8/10 |
- |
1 |
7-44186169-AA-TT |
c.911_912inv |
p.L304Q |
Missense |
8/10 |
- |
1 |
7-44186170-A-C |
c.911T>G |
p.L304R |
Missense |
8/10 |
- |
1 |
7-44186170-A-G |
c.911T>C |
p.L304P |
Missense |
8/10 |
- |
4 |
7-44186170-AG-CA |
c.910_911delinsTG |
p.L304C |
Missense |
8/10 |
- |
1 |
7-44186170-AG-CC |
c.910_911delinsGG |
p.L304G |
Missense |
8/10 |
- |
1 |
7-44186170-AG-CT |
c.910_911inv |
p.L304S |
Missense |
8/10 |
- |
1 |
7-44186170-AG-GC |
c.910_911delinsGC |
p.L304A |
Missense |
8/10 |
- |
1 |
7-44186170-AG-GT |
c.910_911delinsAC |
p.L304T |
Missense |
8/10 |
- |
1 |
7-44186170-AG-TA |
c.910_911delinsTA |
p.L304Y |
Missense |
8/10 |
- |
1 |
7-44186170-AG-TC |
c.910_911delinsGA |
p.L304D |
Missense |
8/10 |
- |
1 |
7-44186170-AG-TT |
c.910_911delinsAA |
p.L304N |
Missense |
8/10 |
- |
1 |
7-44186170-A-T |
c.911T>A |
p.L304H |
Missense |
8/10 |
- |
1 |
7-44186171-G-A |
c.910C>T |
p.L304F |
Missense |
8/10 |
- |
5 |
7-44186171-G-C |
c.910C>G |
p.L304V |
Missense |
8/10 |
- |
1 |
7-44186171-G-T |
c.910C>A |
p.L304I |
Missense |
8/10 |
- |
1 |
7-44186172-CC-AT |
c.908_909delinsAT |
p.R303H |
Missense |
8/10 |
- |
3 |
7-44186172-CCG-AAA |
c.907_909delinsTTT |
p.R303F |
Missense |
8/10 |
- |
1 |
7-44186172-CCG-ACA |
c.907_909delinsTGT |
p.R303C |
Missense |
8/10 |
- |
1 |
7-44186172-CCG-ATA |
c.907_909delinsTAT |
p.R303Y |
Missense |
8/10 |
- |
1 |
7-44186172-CCG-GAT |
c.907_909delinsATC |
p.R303I |
Missense |
8/10 |
- |
1 |
7-44186172-CCG-GCT |
c.907_909delinsAGC |
p.R303S |
Missense |
8/10 |
- |
1 |
7-44186172-CCG-GTC |
c.907_909delinsGAC |
p.R303D |
Missense |
8/10 |
- |
1 |
7-44186172-CCG-GTT |
c.907_909delinsAAC |
p.R303N |
Missense |
8/10 |
- |
1 |
7-44186173-C-A |
c.908G>T |
p.R303L |
Missense |
8/10 |
- |
5 |
7-44186173-C-G |
c.908G>C |
p.R303P |
Missense |
8/10 |
- |
1 |
7-44186173-CG-AC |
c.907_908delinsGT |
p.R303V |
Missense |
8/10 |
- |
1 |
7-44186173-CG-AT |
c.907_908delinsAT |
p.R303M |
Missense |
8/10 |
- |
1 |
7-44186173-CG-GC |
c.907_908delinsGC |
p.R303A |
Missense |
8/10 |
- |
1 |
7-44186173-CG-GT |
c.907_908delinsAC |
p.R303T |
Missense |
8/10 |
- |
2 |
7-44186173-CG-TC |
c.907_908delinsGA |
p.R303E |
Missense |
8/10 |
- |
1 |
7-44186173-CG-TT |
c.907_908delinsAA |
p.R303K |
Missense |
8/10 |
- |
1 |
7-44186173-C-T |
c.908G>A |
p.R303Q |
Missense |
8/10 |
- |
5 |
7-44186174-G-A |
c.907C>T |
p.R303W |
Missense |
8/10 |
- |
11 |
7-44186174-G-C |
c.907C>G |
p.R303G |
Missense |
8/10 |
- |
1 |
7-44186174-G-T |
c.907C>A |
p.R303= |
Synonymous |
8/10 |
- |
2 |
7-44186175-CAC-AAA |
c.904_906delinsTTT |
p.V302F |
Missense |
8/10 |
- |
1 |
7-44186175-CAC-ACA |
c.904_906delinsTGT |
p.V302C |
Missense |
8/10 |
- |
1 |
7-44186175-CAC-ATA |
c.904_906delinsTAT |
p.V302Y |
Missense |
8/10 |
- |
1 |
7-44186175-CAC-ATG |
c.904_906delinsCAT |
p.V302H |
Missense |
8/10 |
- |
1 |
7-44186175-CAC-GAT |
c.904_906delinsATC |
p.V302I |
Missense |
8/10 |
- |
1 |
7-44186175-CAC-GTT |
c.904_906delinsAAC |
p.V302N |
Missense |
8/10 |
- |
1 |
7-44186175-CA-GT |
c.905_906delinsAC |
p.V302D |
Missense |
8/10 |
- |
1 |
7-44186176-A-C |
c.905T>G |
p.V302G |
Missense |
8/10 |
- |
1 |
7-44186176-AC-CA |
c.904_905delinsTG |
p.V302W |
Missense |
8/10 |
- |
1 |
7-44186176-AC-CT |
c.904_905delinsAG |
p.V302R |
Missense |
8/10 |
- |
1 |
7-44186176-AC-GA |
c.904_905delinsTC |
p.V302S |
Missense |
8/10 |
- |
1 |
7-44186176-AC-GG |
c.904_905delinsCC |
p.V302P |
Missense |
8/10 |
- |
1 |
7-44186176-AC-GT |
c.904_905inv |
p.V302T |
Missense |
8/10 |
- |
1 |
7-44186176-AC-TG |
c.904_905delinsCA |
p.V302Q |
Missense |
8/10 |
- |
1 |
7-44186176-AC-TT |
c.904_905delinsAA |
p.V302K |
Missense |
8/10 |
- |
1 |
7-44186176-A-G |
c.905T>C |
p.V302A |
Missense |
8/10 |
- |
2 |
7-44186176-A-T |
c.905T>A |
p.V302E |
Missense |
8/10 |
- |
2 |
7-44186177-C-A |
c.904G>T |
p.V302L |
Missense |
8/10 |
- |
2 |
7-44186177-C-G |
c.904G>C |
p.V302L |
Missense |
8/10 |
- |
3 |
7-44186177-C-T |
c.904G>A |
p.V302M |
Missense |
8/10 |
- |
2 |
7-44186178-CA-AT |
c.902_903delinsAT |
p.L301H |
Missense |
8/10 |
- |
1 |
7-44186178-CAG-AAA |
c.901_903delinsTTT |
p.L301F |
Missense |
8/10 |
- |
1 |
7-44186178-CAG-ACA |
c.901_903delinsTGT |
p.L301C |
Missense |
8/10 |
- |
1 |
7-44186178-CAG-ATA |
c.901_903delinsTAT |
p.L301Y |
Missense |
8/10 |
- |
1 |
7-44186178-CAG-GAT |
c.901_903delinsATC |
p.L301I |
Missense |
8/10 |
- |
1 |
7-44186178-CAG-GTC |
c.901_903delinsGAC |
p.L301D |
Missense |
8/10 |
- |
1 |
7-44186178-CAG-GTT |
c.901_903delinsAAC |
p.L301N |
Missense |
8/10 |
- |
1 |
7-44186179-A-C |
c.902T>G |
p.L301R |
Missense |
8/10 |
- |
1 |
7-44186179-A-G |
c.902T>C |
p.L301P |
Missense |
8/10 |
- |
3 |
7-44186179-AG-CA |
c.901_902delinsTG |
p.L301W |
Missense |
8/10 |
- |
1 |
7-44186179-AG-CC |
c.901_902delinsGG |
p.L301G |
Missense |
8/10 |
- |
1 |
7-44186179-AG-GA |
c.901_902delinsTC |
p.L301S |
Missense |
8/10 |
- |
1 |
7-44186179-AG-GC |
c.901_902delinsGC |
p.L301A |
Missense |
8/10 |
- |
1 |
7-44186179-AG-GT |
c.901_902delinsAC |
p.L301T |
Missense |
8/10 |
- |
1 |
7-44186179-AG-TC |
c.901_902delinsGA |
p.L301E |
Missense |
8/10 |
- |
1 |
7-44186179-AG-TT |
c.901_902delinsAA |
p.L301K |
Missense |
8/10 |
- |
1 |
7-44186179-A-T |
c.902T>A |
p.L301Q |
Missense |
8/10 |
- |
1 |
7-44186180-G-A |
c.901C>T |
p.L301= |
Synonymous |
8/10 |
- |
1 |
7-44186180-G-C |
c.901C>G |
p.L301V |
Missense |
8/10 |
- |
1 |
7-44186180-G-T |
c.901C>A |
p.L301M |
Missense |
8/10 |
- |
1 |
7-44186181-C-A |
c.900G>T |
p.E300D |
Missense |
8/10 |
- |
1 |
7-44186181-C-G |
c.900G>C |
p.E300D |
Missense |
8/10 |
- |
1 |
7-44186181-CTC-AAA |
c.898_900delinsTTT |
p.E300F |
Missense |
8/10 |
- |
1 |
7-44186181-CTC-ACA |
c.898_900delinsTGT |
p.E300C |
Missense |
8/10 |
- |
1 |
7-44186181-CTC-ATA |
c.898_900delinsTAT |
p.E300Y |
Missense |
8/10 |
- |
1 |
7-44186181-CTC-ATG |
c.898_900delinsCAT |
p.E300H |
Missense |
8/10 |
- |
1 |
7-44186181-CTC-GAT |
c.898_900delinsATC |
p.E300I |
Missense |
8/10 |
- |
1 |
7-44186181-CTC-GTT |
c.898_900delinsAAC |
p.E300N |
Missense |
8/10 |
- |
1 |
7-44186182-T-A |
c.899A>T |
p.E300V |
Missense |
8/10 |
- |
1 |
7-44186182-T-C |
c.899A>G |
p.E300G |
Missense |
8/10 |
- |
1 |
7-44186182-TC-AG |
c.898_899delinsCT |
p.E300L |
Missense |
8/10 |
- |
1 |
7-44186182-TC-AT |
c.898_899delinsAT |
p.E300M |
Missense |
8/10 |
- |
1 |
7-44186182-TC-CA |
c.898_899delinsTG |
p.E300W |
Missense |
8/10 |
- |
1 |
7-44186182-TC-CT |
c.898_899delinsAG |
p.E300R |
Missense |
8/10 |
- |
1 |
7-44186182-TC-GA |
c.898_899inv |
p.E300S |
Missense |
8/10 |
- |
1 |
7-44186182-TC-GG |
c.898_899delinsCC |
p.E300P |
Missense |
8/10 |
- |
1 |
7-44186182-TC-GT |
c.898_899delinsAC |
p.E300T |
Missense |
8/10 |
- |
1 |
7-44186182-T-G |
c.899A>C |
p.E300A |
Missense |
8/10 |
- |
2 |
7-44186183-C-A |
c.898G>T |
p.E300* |
Nonsense |
8/10 |
- |
2 |
7-44186183-C-G |
c.898G>C |
p.E300Q |
Missense |
8/10 |
- |
7 |
7-44186183-C-T |
c.898G>A |
p.E300K |
Missense |
8/10 |
- |
17 |
7-44186184-GCC-CAT |
c.895_897delinsATG |
p.G299M |
Missense |
8/10 |
- |
1 |
7-44186184-GCC-CCA |
c.895_897delinsTGG |
p.G299W |
Missense |
8/10 |
- |
1 |
7-44186184-GCC-CTT |
c.895_897delinsAAG |
p.G299K |
Missense |
8/10 |
- |
1 |
7-44186184-GC-CT |
c.896_897delinsAG |
p.G299E |
Missense |
8/10 |
- |
1 |
7-44186184-GCC-TTG |
c.895_897delinsCAA |
p.G299Q |
Missense |
8/10 |
- |
1 |
7-44186185-C-A |
c.896G>T |
p.G299V |
Missense |
8/10 |
- |
3 |
7-44186185-CC-AA |
c.895_896delinsTT |
p.G299F |
Missense |
8/10 |
- |
1 |
7-44186185-CC-AG |
c.895_896delinsCT |
p.G299L |
Missense |
8/10 |
- |
1 |
7-44186185-CC-AT |
c.895_896delinsAT |
p.G299I |
Missense |
8/10 |
- |
1 |
7-44186185-CC-GG |
c.895_896inv |
p.G299P |
Missense |
8/10 |
- |
1 |
7-44186185-CC-GT |
c.895_896delinsAC |
p.G299T |
Missense |
8/10 |
- |
1 |
7-44186185-CC-TA |
c.895_896delinsTA |
p.G299Y |
Missense |
8/10 |
- |
1 |
7-44186185-CC-TG |
c.895_896delinsCA |
p.G299H |
Missense |
8/10 |
- |
1 |
7-44186185-CC-TT |
c.895_896delinsAA |
p.G299N |
Missense |
8/10 |
- |
1 |
7-44186185-C-G |
c.896G>C |
p.G299A |
Missense |
8/10 |
- |
1 |
7-44186185-C-T |
c.896G>A |
p.G299D |
Missense |
8/10 |
- |
5 |
7-44186186-C-A |
c.895G>T |
p.G299C |
Missense |
8/10 |
- |
2 |
7-44186186-C-G |
c.895G>C |
p.G299R |
Missense |
8/10 |
- |
18 |
7-44186186-C-T |
c.895G>A |
p.G299S |
Missense |
8/10 |
- |
4 |
7-44186184-GC-G |
c.896del |
p.G299Afs*54 |
Frameshift |
8/10 |
- |
1 |
7-44186187-C-A |
c.894G>T |
p.M298I |
Missense |
8/10 |
- |
2 |
7-44186187-CA-GC |
c.893_894delinsGC |
p.M298S |
Missense |
8/10 |
- |
1 |
7-44186187-CA-GT |
c.893_894delinsAC |
p.M298N |
Missense |
8/10 |
- |
1 |
7-44186187-CAT-AAA |
c.892_894delinsTTT |
p.M298F |
Missense |
8/10 |
- |
1 |
7-44186187-CAT-ACA |
c.892_894delinsTGT |
p.M298C |
Missense |
8/10 |
- |
1 |
7-44186187-CAT-ATA |
c.892_894delinsTAT |
p.M298Y |
Missense |
8/10 |
- |
1 |
7-44186187-CAT-ATG |
c.892_894inv |
p.M298H |
Missense |
8/10 |
- |
1 |
7-44186187-CAT-GTC |
c.892_894delinsGAC |
p.M298D |
Missense |
8/10 |
- |
1 |
7-44186187-C-G |
c.894G>C |
p.M298I |
Missense |
8/10 |
- |
1 |
7-44186187-C-T |
c.894G>A |
p.M298I |
Missense |
8/10 |
- |
1 |
7-44186188-A-C |
c.893T>G |
p.M298R |
Missense |
8/10 |
- |
1 |
7-44186188-A-G |
c.893T>C |
p.M298T |
Missense |
8/10 |
- |
3 |
7-44186188-A-T |
c.893T>A |
p.M298K |
Missense |
8/10 |
- |
7 |
7-44186188-AT-CA |
c.892_893delinsTG |
p.M298W |
Missense |
8/10 |
- |
1 |
7-44186188-AT-CC |
c.892_893delinsGG |
p.M298G |
Missense |
8/10 |
- |
1 |
7-44186188-AT-GC |
c.892_893delinsGC |
p.M298A |
Missense |
8/10 |
- |
1 |
7-44186188-AT-GG |
c.892_893delinsCC |
p.M298P |
Missense |
8/10 |
- |
1 |
7-44186188-AT-TC |
c.892_893delinsGA |
p.M298E |
Missense |
8/10 |
- |
1 |
7-44186188-AT-TG |
c.892_893delinsCA |
p.M298Q |
Missense |
8/10 |
- |
1 |
7-44186185-CCCATGTACTTG-C |
c.885_895del |
p.K296Rfs*159 |
Frameshift |
8/10 |
- |
1 |
7-44186189-T-A |
c.892A>T |
p.M298L |
Missense |
8/10 |
- |
2 |
7-44186189-T-C |
c.892A>G |
p.M298V |
Missense |
8/10 |
- |
2 |
7-44186189-T-G |
c.892A>C |
p.M298L |
Missense |
8/10 |
- |
2 |
7-44186190-G-C |
c.891C>G |
p.Y297* |
Nonsense |
8/10 |
- |
1 |
7-44186190-G-T |
c.891C>A |
p.Y297* |
Nonsense |
8/10 |
- |
3 |
7-44186190-GTA-CAT |
c.889_891delinsATG |
p.Y297M |
Missense |
8/10 |
- |
1 |
7-44186190-GTA-CTC |
c.889_891delinsGAG |
p.Y297E |
Missense |
8/10 |
- |
1 |
7-44186190-GTA-CTT |
c.889_891delinsAAG |
p.Y297K |
Missense |
8/10 |
- |
1 |
7-44186190-GTA-TTG |
c.889_891delinsCAA |
p.Y297Q |
Missense |
8/10 |
- |
1 |
7-44186190-GT-CC |
c.890_891delinsGG |
p.Y297W |
Missense |
8/10 |
- |
1 |
7-44186191-T-A |
c.890A>T |
p.Y297F |
Missense |
8/10 |
- |
1 |
7-44186191-TA-AC |
c.889_890delinsGT |
p.Y297V |
Missense |
8/10 |
- |
1 |
7-44186191-TA-AG |
c.889_890delinsCT |
p.Y297L |
Missense |
8/10 |
- |
1 |
7-44186191-TA-AT |
c.889_890delinsAT |
p.Y297I |
Missense |
8/10 |
- |
1 |
7-44186191-TA-CC |
c.889_890delinsGG |
p.Y297G |
Missense |
8/10 |
- |
1 |
7-44186191-TA-CG |
c.889_890delinsCG |
p.Y297R |
Missense |
8/10 |
- |
1 |
7-44186191-TA-GC |
c.889_890delinsGC |
p.Y297A |
Missense |
8/10 |
- |
1 |
7-44186191-TA-GG |
c.889_890delinsCC |
p.Y297P |
Missense |
8/10 |
- |
1 |
7-44186191-TA-GT |
c.889_890delinsAC |
p.Y297T |
Missense |
8/10 |
- |
1 |
7-44186191-T-C |
c.890A>G |
p.Y297C |
Missense |
8/10 |
- |
1 |
7-44186191-T-G |
c.890A>C |
p.Y297S |
Missense |
8/10 |
- |
1 |
7-44186192-A-C |
c.889T>G |
p.Y297D |
Missense |
8/10 |
- |
1 |
7-44186192-A-G |
c.889T>C |
p.Y297H |
Missense |
8/10 |
- |
2 |
7-44186192-A-T |
c.889T>A |
p.Y297N |
Missense |
8/10 |
- |
1 |
7-44186193-C-A |
c.888G>T |
p.K296N |
Missense |
8/10 |
- |
1 |
7-44186193-C-G |
c.888G>C |
p.K296N |
Missense |
8/10 |
- |
1 |
7-44186193-CT-GA |
c.887_888delinsTC |
p.K296I |
Missense |
8/10 |
- |
1 |
7-44186193-CT-GC |
c.887_888delinsGC |
p.K296S |
Missense |
8/10 |
- |
1 |
7-44186193-CTT-AAA |
c.886_888delinsTTT |
p.K296F |
Missense |
8/10 |
- |
1 |
7-44186193-CTT-ACA |
c.886_888delinsTGT |
p.K296C |
Missense |
8/10 |
- |
1 |
7-44186193-CTT-ATA |
c.886_888delinsTAT |
p.K296Y |
Missense |
8/10 |
- |
1 |
7-44186193-CTT-ATG |
c.886_888delinsCAT |
p.K296H |
Missense |
8/10 |
- |
1 |
7-44186193-CTT-GTC |
c.886_888delinsGAC |
p.K296D |
Missense |
8/10 |
- |
1 |
7-44186194-T-A |
c.887A>T |
p.K296M |
Missense |
8/10 |
- |
2 |
7-44186194-T-C |
c.887A>G |
p.K296R |
Missense |
8/10 |
- |
1 |
7-44186194-T-G |
c.887A>C |
p.K296T |
Missense |
8/10 |
- |
1 |
7-44186194-TT-AC |
c.886_887delinsGT |
p.K296V |
Missense |
8/10 |
- |
1 |
7-44186194-TT-AG |
c.886_887delinsCT |
p.K296L |
Missense |
8/10 |
- |
1 |
7-44186194-TT-CA |
c.886_887delinsTG |
p.K296W |
Missense |
8/10 |
- |
1 |
7-44186194-TT-CC |
c.886_887delinsGG |
p.K296G |
Missense |
8/10 |
- |
1 |
7-44186194-TT-GC |
c.886_887delinsGC |
p.K296A |
Missense |
8/10 |
- |
1 |
7-44186194-TT-GG |
c.886_887delinsCC |
p.K296P |
Missense |
8/10 |
- |
1 |
7-44186195-T-C |
c.886A>G |
p.K296E |
Missense |
8/10 |
- |
1 |
7-44186195-T-G |
c.886A>C |
p.K296Q |
Missense |
8/10 |
- |
3 |
7-44186196-G-A |
c.885C>T |
p.G295= |
Synonymous |
8/10 |
- |
2 |
7-44186196-GCC-CAT |
c.883_885delinsATG |
p.G295M |
Missense |
8/10 |
- |
1 |
7-44186196-GCC-CCA |
c.883_885delinsTGG |
p.G295W |
Missense |
8/10 |
- |
1 |
7-44186196-GCC-CTT |
c.883_885delinsAAG |
p.G295K |
Missense |
8/10 |
- |
1 |
7-44186196-GC-CT |
c.884_885delinsAG |
p.G295E |
Missense |
8/10 |
- |
1 |
7-44186196-GCC-TTG |
c.883_885delinsCAA |
p.G295Q |
Missense |
8/10 |
- |
1 |
7-44186197-C-A |
c.884G>T |
p.G295V |
Missense |
8/10 |
- |
1 |
7-44186197-CC-AA |
c.883_884delinsTT |
p.G295F |
Missense |
8/10 |
- |
1 |
7-44186197-CC-AG |
c.883_884delinsCT |
p.G295L |
Missense |
8/10 |
- |
1 |
7-44186197-CC-AT |
c.883_884delinsAT |
p.G295I |
Missense |
8/10 |
- |
1 |
7-44186197-CC-GG |
c.883_884inv |
p.G295P |
Missense |
8/10 |
- |
1 |
7-44186197-CC-GT |
c.883_884delinsAC |
p.G295T |
Missense |
8/10 |
- |
1 |
7-44186197-CC-TA |
c.883_884delinsTA |
p.G295Y |
Missense |
8/10 |
- |
1 |
7-44186197-CC-TG |
c.883_884delinsCA |
p.G295H |
Missense |
8/10 |
- |
1 |
7-44186197-CC-TT |
c.883_884delinsAA |
p.G295N |
Missense |
8/10 |
- |
1 |
7-44186197-C-G |
c.884G>C |
p.G295A |
Missense |
8/10 |
- |
1 |
7-44186197-C-T |
c.884G>A |
p.G295D |
Missense |
8/10 |
- |
3 |
7-44186196-GC-G |
c.884del |
p.G295Afs*58 |
Frameshift |
8/10 |
- |
1 |
7-44186198-C-A |
c.883G>T |
p.G295C |
Missense |
8/10 |
- |
4 |
7-44186198-C-G |
c.883G>C |
p.G295R |
Missense |
8/10 |
- |
1 |
7-44186198-C-T |
c.883G>A |
p.G295S |
Missense |
8/10 |
- |
7 |
7-44186199-ACC-CAT |
c.880_882delinsATG |
p.G294M |
Missense |
8/10 |
- |
1 |
7-44186199-ACC-CCA |
c.880_882delinsTGG |
p.G294W |
Missense |
8/10 |
- |
1 |
7-44186199-ACC-CTT |
c.880_882delinsAAG |
p.G294K |
Missense |
8/10 |
- |
1 |
7-44186199-AC-CT |
c.881_882delinsAG |
p.G294E |
Missense |
8/10 |
- |
1 |
7-44186199-ACC-TTG |
c.880_882delinsCAA |
p.G294Q |
Missense |
8/10 |
- |
1 |
7-44186200-C-A |
c.881G>T |
p.G294V |
Missense |
8/10 |
- |
1 |
7-44186200-CC-AA |
c.880_881delinsTT |
p.G294F |
Missense |
8/10 |
- |
1 |
7-44186200-CC-AG |
c.880_881delinsCT |
p.G294L |
Missense |
8/10 |
- |
1 |
7-44186200-CC-AT |
c.880_881delinsAT |
p.G294I |
Missense |
8/10 |
- |
1 |
7-44186200-CC-GG |
c.880_881inv |
p.G294P |
Missense |
8/10 |
- |
1 |
7-44186200-CC-GT |
c.880_881delinsAC |
p.G294T |
Missense |
8/10 |
- |
1 |
7-44186200-CC-TA |
c.880_881delinsTA |
p.G294Y |
Missense |
8/10 |
- |
1 |
7-44186200-CC-TG |
c.880_881delinsCA |
p.G294H |
Missense |
8/10 |
- |
1 |
7-44186200-CC-TT |
c.880_881delinsAA |
p.G294N |
Missense |
8/10 |
- |
2 |
7-44186200-C-G |
c.881G>C |
p.G294A |
Missense |
8/10 |
- |
1 |
7-44186200-C-T |
c.881G>A |
p.G294D |
Missense |
8/10 |
- |
3 |
7-44186201-C-A |
c.880G>T |
p.G294C |
Missense |
8/10 |
- |
1 |
7-44186201-C-G |
c.880G>C |
p.G294R |
Missense |
8/10 |
- |
1 |
7-44186201-C-T |
c.880G>A |
p.G294S |
Missense |
8/10 |
- |
4 |
7-44186202-TA-GC |
c.878_879delinsGC |
p.I293S |
Missense |
8/10 |
- |
1 |
7-44186202-TA-GT |
c.878_879delinsAC |
p.I293N |
Missense |
8/10 |
- |
1 |
7-44186202-TAT-AAA |
c.877_879delinsTTT |
p.I293F |
Missense |
8/10 |
- |
1 |
7-44186202-TAT-ACA |
c.877_879delinsTGT |
p.I293C |
Missense |
8/10 |
- |
1 |
7-44186202-TAT-ATA |
c.877_879inv |
p.I293Y |
Missense |
8/10 |
- |
1 |
7-44186202-TAT-ATG |
c.877_879delinsCAT |
p.I293H |
Missense |
8/10 |
- |
1 |
7-44186202-TAT-CCA |
c.877_879delinsTGG |
p.I293W |
Missense |
8/10 |
- |
1 |
7-44186202-TAT-GTC |
c.877_879delinsGAC |
p.I293D |
Missense |
8/10 |
- |
1 |
7-44186202-T-C |
c.879A>G |
p.I293M |
Missense |
8/10 |
- |
1 |
7-44186203-A-C |
c.878T>G |
p.I293R |
Missense |
8/10 |
- |
6 |
7-44186203-A-G |
c.878T>C |
p.I293T |
Missense |
8/10 |
- |
3 |
7-44186203-A-T |
c.878T>A |
p.I293K |
Missense |
8/10 |
- |
1 |
7-44186203-AT-CC |
c.877_878delinsGG |
p.I293G |
Missense |
8/10 |
- |
1 |
7-44186203-AT-GC |
c.877_878delinsGC |
p.I293A |
Missense |
8/10 |
- |
2 |
7-44186203-AT-GG |
c.877_878delinsCC |
p.I293P |
Missense |
8/10 |
- |
1 |
7-44186203-AT-TC |
c.877_878delinsGA |
p.I293E |
Missense |
8/10 |
- |
1 |
7-44186203-AT-TG |
c.877_878delinsCA |
p.I293Q |
Missense |
8/10 |
- |
1 |
7-44186204-T-A |
c.877A>T |
p.I293L |
Missense |
8/10 |
- |
1 |
7-44186204-T-C |
c.877A>G |
p.I293V |
Missense |
8/10 |
- |
1 |
7-44186204-T-G |
c.877A>C |
p.I293L |
Missense |
8/10 |
- |
2 |
7-44186205-G-A |
c.876C>T |
p.L292= |
Synonymous |
8/10 |
- |
1 |
7-44186205-GAG-CAT |
c.874_876delinsATG |
p.L292M |
Missense |
8/10 |
- |
1 |
7-44186205-GAG-CCA |
c.874_876delinsTGG |
p.L292W |
Missense |
8/10 |
- |
1 |
7-44186205-GAG-CTC |
c.874_876inv |
p.L292E |
Missense |
8/10 |
- |
1 |
7-44186205-GAG-CTT |
c.874_876delinsAAG |
p.L292K |
Missense |
8/10 |
- |
1 |
7-44186205-GA-TT |
c.875_876delinsAA |
p.L292Q |
Missense |
8/10 |
- |
1 |
7-44186205-G-C |
c.876C>G |
p.L292= |
Synonymous |
8/10 |
- |
1 |
7-44186205-G-T |
c.876C>A |
p.L292= |
Synonymous |
8/10 |
- |
1 |
7-44186206-A-C |
c.875T>G |
p.L292R |
Missense |
8/10 |
- |
1 |
7-44186206-A-G |
c.875T>C |
p.L292P |
Missense |
8/10 |
- |
1 |
7-44186206-AG-CA |
c.874_875delinsTG |
p.L292C |
Missense |
8/10 |
- |
1 |
7-44186206-AG-CC |
c.874_875delinsGG |
p.L292G |
Missense |
8/10 |
- |
1 |
7-44186206-AG-CT |
c.874_875inv |
p.L292S |
Missense |
8/10 |
- |
1 |
7-44186206-AG-GC |
c.874_875delinsGC |
p.L292A |
Missense |
8/10 |
- |
1 |
7-44186206-AG-GT |
c.874_875delinsAC |
p.L292T |
Missense |
8/10 |
- |
1 |
7-44186206-AG-TA |
c.874_875delinsTA |
p.L292Y |
Missense |
8/10 |
- |
1 |
7-44186206-AG-TC |
c.874_875delinsGA |
p.L292D |
Missense |
8/10 |
- |
1 |
7-44186206-AG-TT |
c.874_875delinsAA |
p.L292N |
Missense |
8/10 |
- |
1 |
7-44186206-A-T |
c.875T>A |
p.L292H |
Missense |
8/10 |
- |
1 |
7-44186207-G-A |
c.874C>T |
p.L292F |
Missense |
8/10 |
- |
1 |
7-44186207-G-C |
c.874C>G |
p.L292V |
Missense |
8/10 |
- |
1 |
7-44186207-G-T |
c.874C>A |
p.L292I |
Missense |
8/10 |
- |
1 |
7-44186208-C-A |
c.873G>T |
p.K291N |
Missense |
8/10 |
- |
1 |
7-44186208-C-G |
c.873G>C |
p.K291N |
Missense |
8/10 |
- |
2 |
7-44186208-C-T |
c.873G>A |
p.K291= |
Synonymous |
8/10 |
- |
1 |
7-44186208-CT-GA |
c.872_873delinsTC |
p.K291I |
Missense |
8/10 |
- |
1 |
7-44186208-CT-GC |
c.872_873delinsGC |
p.K291S |
Missense |
8/10 |
- |
1 |
7-44186208-CTT-AAA |
c.871_873delinsTTT |
p.K291F |
Missense |
8/10 |
- |
1 |
7-44186208-CTT-ACA |
c.871_873delinsTGT |
p.K291C |
Missense |
8/10 |
- |
1 |
7-44186208-CTT-ATA |
c.871_873delinsTAT |
p.K291Y |
Missense |
8/10 |
- |
1 |
7-44186208-CTT-ATG |
c.871_873delinsCAT |
p.K291H |
Missense |
8/10 |
- |
1 |
7-44186208-CTT-GTC |
c.871_873delinsGAC |
p.K291D |
Missense |
8/10 |
- |
1 |
7-44186209-T-A |
c.872A>T |
p.K291M |
Missense |
8/10 |
- |
2 |
7-44186209-T-C |
c.872A>G |
p.K291R |
Missense |
8/10 |
- |
1 |
7-44186209-T-G |
c.872A>C |
p.K291T |
Missense |
8/10 |
- |
3 |
7-44186209-TT-AC |
c.871_872delinsGT |
p.K291V |
Missense |
8/10 |
- |
1 |
7-44186209-TT-AG |
c.871_872delinsCT |
p.K291L |
Missense |
8/10 |
- |
1 |
7-44186209-TT-CA |
c.871_872delinsTG |
p.K291W |
Missense |
8/10 |
- |
1 |
7-44186209-TT-CC |
c.871_872delinsGG |
p.K291G |
Missense |
8/10 |
- |
1 |
7-44186209-TT-GC |
c.871_872delinsGC |
p.K291A |
Missense |
8/10 |
- |
1 |
7-44186209-TT-GG |
c.871_872delinsCC |
p.K291P |
Missense |
8/10 |
- |
1 |
7-44186208-C-CT |
c.872dup |
p.L292Afs*167 |
Frameshift |
8/10 |
- |
1 |
7-44186210-T-A |
c.871A>T |
p.K291* |
Nonsense |
8/10 |
- |
4 |
7-44186210-T-C |
c.871A>G |
p.K291E |
Missense |
8/10 |
- |
5 |
7-44186210-T-G |
c.871A>C |
p.K291Q |
Missense |
8/10 |
- |
1 |
7-44186211-C-A |
c.870G>T |
p.E290D |
Missense |
8/10 |
- |
6 |
7-44186211-C-G |
c.870G>C |
p.E290D |
Missense |
8/10 |
- |
4 |
7-44186211-CTC-AAA |
c.868_870delinsTTT |
p.E290F |
Missense |
8/10 |
- |
1 |
7-44186211-CTC-ACA |
c.868_870delinsTGT |
p.E290C |
Missense |
8/10 |
- |
1 |
7-44186211-CTC-ATA |
c.868_870delinsTAT |
p.E290Y |
Missense |
8/10 |
- |
1 |
7-44186211-CTC-ATG |
c.868_870delinsCAT |
p.E290H |
Missense |
8/10 |
- |
1 |
7-44186211-CTC-GAT |
c.868_870delinsATC |
p.E290I |
Missense |
8/10 |
- |
1 |
7-44186211-CTC-GTT |
c.868_870delinsAAC |
p.E290N |
Missense |
8/10 |
- |
1 |
7-44186212-T-A |
c.869A>T |
p.E290V |
Missense |
8/10 |
- |
1 |
7-44186212-T-C |
c.869A>G |
p.E290G |
Missense |
8/10 |
- |
3 |
7-44186212-TC-AG |
c.868_869delinsCT |
p.E290L |
Missense |
8/10 |
- |
1 |
7-44186212-TC-AT |
c.868_869delinsAT |
p.E290M |
Missense |
8/10 |
- |
1 |
7-44186212-TC-CA |
c.868_869delinsTG |
p.E290W |
Missense |
8/10 |
- |
1 |
7-44186212-TC-CT |
c.868_869delinsAG |
p.E290R |
Missense |
8/10 |
- |
1 |
7-44186212-TC-GA |
c.868_869inv |
p.E290S |
Missense |
8/10 |
- |
1 |
7-44186212-TC-GG |
c.868_869delinsCC |
p.E290P |
Missense |
8/10 |
- |
1 |
7-44186212-TC-GT |
c.868_869delinsAC |
p.E290T |
Missense |
8/10 |
- |
1 |
7-44186212-T-G |
c.869A>C |
p.E290A |
Missense |
8/10 |
- |
2 |
7-44186213-C-A |
c.868G>T |
p.E290* |
Nonsense |
8/10 |
- |
3 |
7-44186213-C-G |
c.868G>C |
p.E290Q |
Missense |
8/10 |
- |
2 |
7-44186213-C-T |
c.868G>A |
p.E290K |
Missense |
8/10 |
- |
3 |
7-44186214-A-C |
c.867T>G |
p.Y289* |
Nonsense |
8/10 |
- |
2 |
7-44186214-A-T |
c.867T>A |
p.Y289* |
Nonsense |
8/10 |
- |
1 |
7-44186214-ATA-CAT |
c.865_867delinsATG |
p.Y289M |
Missense |
8/10 |
- |
1 |
7-44186214-ATA-CTC |
c.865_867delinsGAG |
p.Y289E |
Missense |
8/10 |
- |
1 |
7-44186214-ATA-CTT |
c.865_867delinsAAG |
p.Y289K |
Missense |
8/10 |
- |
1 |
7-44186214-ATA-TTG |
c.865_867delinsCAA |
p.Y289Q |
Missense |
8/10 |
- |
1 |
7-44186214-AT-CC |
c.866_867delinsGG |
p.Y289W |
Missense |
8/10 |
- |
1 |
7-44186215-T-A |
c.866A>T |
p.Y289F |
Missense |
8/10 |
- |
1 |
7-44186215-TA-AC |
c.865_866delinsGT |
p.Y289V |
Missense |
8/10 |
- |
1 |
7-44186215-TA-AG |
c.865_866delinsCT |
p.Y289L |
Missense |
8/10 |
- |
1 |
7-44186215-TA-AT |
c.865_866delinsAT |
p.Y289I |
Missense |
8/10 |
- |
1 |
7-44186215-TA-CC |
c.865_866delinsGG |
p.Y289G |
Missense |
8/10 |
- |
1 |
7-44186215-TA-CG |
c.865_866delinsCG |
p.Y289R |
Missense |
8/10 |
- |
1 |
7-44186215-TA-GC |
c.865_866delinsGC |
p.Y289A |
Missense |
8/10 |
- |
1 |
7-44186215-TA-GG |
c.865_866delinsCC |
p.Y289P |
Missense |
8/10 |
- |
1 |
7-44186215-TA-GT |
c.865_866delinsAC |
p.Y289T |
Missense |
8/10 |
- |
1 |
7-44186215-T-C |
c.866A>G |
p.Y289C |
Missense |
8/10 |
- |
4 |
7-44186215-T-G |
c.866A>C |
p.Y289S |
Missense |
8/10 |
- |
1 |
7-44186216-A-C |
c.865T>G |
p.Y289D |
Missense |
8/10 |
- |
1 |
7-44186216-A-G |
c.865T>C |
p.Y289H |
Missense |
8/10 |
- |
6 |
7-44186216-A-T |
c.865T>A |
p.Y289N |
Missense |
8/10 |
- |
4 |
7-44186216-TA-T |
c.865del |
p.Y289Mfs*5 |
Frameshift |
8/10 |
- |
1 |
7-44186217-C-G |
c.864G>C |
p.L288= |
Synonymous |
8/10 |
- |
1 |
7-44186218-C-T |
c.864-1G>A |
- |
IntronicSNV |
- |
7/9 |
2 |
7-44186307-A-G |
c.864-90T>C |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44186328-C-T |
c.864-111G>A |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187007-G-A |
c.863+242C>T |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187017-C-T |
c.863+232G>A |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187031-T-G |
c.863+218A>C |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187083-A-G |
c.863+166T>C |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187099-G-A |
c.863+150C>T |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187120-G-C |
c.863+129C>G |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187147-T-C |
c.863+102A>G |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187195-C-T |
c.863+54G>A |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187217-G-T |
c.863+32C>A |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187225-T-C |
c.863+24A>G |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187246-T-C |
c.863+3A>G |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187248-C-A |
c.863+1G>T |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187248-C-G |
c.863+1G>C |
- |
IntronicSNV |
- |
7/9 |
1 |
7-44187248-C-T |
c.863+1G>A |
- |
IntronicSNV |
- |
7/9 |
4 |
7-44187249-A-C |
c.863T>G |
p.L288R |
Missense |
7/10 |
- |
3 |
7-44187249-A-G |
c.863T>C |
p.L288P |
Missense |
7/10 |
- |
2 |
7-44187249-AG-CA |
c.862_863delinsTG |
p.L288W |
Missense |
7/10 |
- |
1 |
7-44187249-AG-CC |
c.862_863delinsGG |
p.L288G |
Missense |
7/10 |
- |
1 |
7-44187249-AG-GA |
c.862_863delinsTC |
p.L288S |
Missense |
7/10 |
- |
1 |
7-44187249-AG-GC |
c.862_863delinsGC |
p.L288A |
Missense |
7/10 |
- |
1 |
7-44187249-AG-GT |
c.862_863delinsAC |
p.L288T |
Missense |
7/10 |
- |
1 |
7-44187249-AG-TC |
c.862_863delinsGA |
p.L288E |
Missense |
7/10 |
- |
1 |
7-44187249-AG-TT |
c.862_863delinsAA |
p.L288K |
Missense |
7/10 |
- |
1 |
7-44187249-A-T |
c.863T>A |
p.L288Q |
Missense |
7/10 |
- |
1 |
7-44187250-G-C |
c.862C>G |
p.L288V |
Missense |
7/10 |
- |
1 |
7-44187250-G-T |
c.862C>A |
p.L288M |
Missense |
7/10 |
- |
1 |
7-44187251-C-A |
c.861G>T |
p.Q287H |
Missense |
7/10 |
- |
1 |
7-44187251-C-G |
c.861G>C |
p.Q287H |
Missense |
7/10 |
- |
1 |
7-44187251-CTG-AAA |
c.859_861delinsTTT |
p.Q287F |
Missense |
7/10 |
- |
1 |
7-44187251-CTG-ACA |
c.859_861delinsTGT |
p.Q287C |
Missense |
7/10 |
- |
1 |
7-44187251-CTG-ATA |
c.859_861delinsTAT |
p.Q287Y |
Missense |
7/10 |
- |
1 |
7-44187251-CTG-GAT |
c.859_861delinsATC |
p.Q287I |
Missense |
7/10 |
- |
1 |
7-44187251-CTG-GTC |
c.859_861delinsGAC |
p.Q287D |
Missense |
7/10 |
- |
1 |
7-44187251-CTG-GTT |
c.859_861delinsAAC |
p.Q287N |
Missense |
7/10 |
- |
1 |
7-44187252-T-A |
c.860A>T |
p.Q287L |
Missense |
7/10 |
- |
2 |
7-44187252-T-C |
c.860A>G |
p.Q287R |
Missense |
7/10 |
- |
1 |
7-44187252-T-G |
c.860A>C |
p.Q287P |
Missense |
7/10 |
- |
3 |
7-44187252-TG-AC |
c.859_860delinsGT |
p.Q287V |
Missense |
7/10 |
- |
1 |
7-44187252-TG-AT |
c.859_860delinsAT |
p.Q287M |
Missense |
7/10 |
- |
1 |
7-44187252-TG-CA |
c.859_860inv |
p.Q287W |
Missense |
7/10 |
- |
1 |
7-44187252-TG-CC |
c.859_860delinsGG |
p.Q287G |
Missense |
7/10 |
- |
1 |
7-44187252-TG-GA |
c.859_860delinsTC |
p.Q287S |
Missense |
7/10 |
- |
1 |
7-44187252-TG-GC |
c.859_860delinsGC |
p.Q287A |
Missense |
7/10 |
- |
1 |
7-44187252-TG-GT |
c.859_860delinsAC |
p.Q287T |
Missense |
7/10 |
- |
1 |
7-44187253-G-A |
c.859C>T |
p.Q287* |
Nonsense |
7/10 |
- |
1 |
7-44187253-G-C |
c.859C>G |
p.Q287E |
Missense |
7/10 |
- |
1 |
7-44187253-G-T |
c.859C>A |
p.Q287K |
Missense |
7/10 |
- |
3 |
7-44187254-C-A |
c.858G>T |
p.Q286H |
Missense |
7/10 |
- |
1 |
7-44187254-C-G |
c.858G>C |
p.Q286H |
Missense |
7/10 |
- |
1 |
7-44187254-CTG-AAA |
c.856_858delinsTTT |
p.Q286F |
Missense |
7/10 |
- |
1 |
7-44187254-CTG-ACA |
c.856_858delinsTGT |
p.Q286C |
Missense |
7/10 |
- |
1 |
7-44187254-CTG-ATA |
c.856_858delinsTAT |
p.Q286Y |
Missense |
7/10 |
- |
1 |
7-44187254-CTG-GAT |
c.856_858delinsATC |
p.Q286I |
Missense |
7/10 |
- |
1 |
7-44187254-CTG-GTC |
c.856_858delinsGAC |
p.Q286D |
Missense |
7/10 |
- |
1 |
7-44187254-CTG-GTT |
c.856_858delinsAAC |
p.Q286N |
Missense |
7/10 |
- |
1 |
7-44187255-T-A |
c.857A>T |
p.Q286L |
Missense |
7/10 |
- |
1 |
7-44187255-T-C |
c.857A>G |
p.Q286R |
Missense |
7/10 |
- |
1 |
7-44187255-T-G |
c.857A>C |
p.Q286P |
Missense |
7/10 |
- |
1 |
7-44187255-TG-AC |
c.856_857delinsGT |
p.Q286V |
Missense |
7/10 |
- |
1 |
7-44187255-TG-AT |
c.856_857delinsAT |
p.Q286M |
Missense |
7/10 |
- |
1 |
7-44187255-TG-CA |
c.856_857inv |
p.Q286W |
Missense |
7/10 |
- |
1 |
7-44187255-TG-CC |
c.856_857delinsGG |
p.Q286G |
Missense |
7/10 |
- |
1 |
7-44187255-TG-GA |
c.856_857delinsTC |
p.Q286S |
Missense |
7/10 |
- |
1 |
7-44187255-TG-GC |
c.856_857delinsGC |
p.Q286A |
Missense |
7/10 |
- |
1 |
7-44187255-TG-GT |
c.856_857delinsAC |
p.Q286T |
Missense |
7/10 |
- |
1 |
7-44187256-G-A |
c.856C>T |
p.Q286* |
Nonsense |
7/10 |
- |
1 |
7-44187256-G-C |
c.856C>G |
p.Q286E |
Missense |
7/10 |
- |
1 |
7-44187256-G-T |
c.856C>A |
p.Q286K |
Missense |
7/10 |
- |
1 |
7-44187257-ACC-CAT |
c.853_855delinsATG |
p.G285M |
Missense |
7/10 |
- |
1 |
7-44187257-ACC-CCA |
c.853_855delinsTGG |
p.G285W |
Missense |
7/10 |
- |
1 |
7-44187257-ACC-CTT |
c.853_855delinsAAG |
p.G285K |
Missense |
7/10 |
- |
1 |
7-44187257-AC-CT |
c.854_855delinsAG |
p.G285E |
Missense |
7/10 |
- |
1 |
7-44187257-ACC-TTG |
c.853_855delinsCAA |
p.G285Q |
Missense |
7/10 |
- |
1 |
7-44187258-C-A |
c.854G>T |
p.G285V |
Missense |
7/10 |
- |
2 |
7-44187258-CC-AA |
c.853_854delinsTT |
p.G285F |
Missense |
7/10 |
- |
1 |
7-44187258-CC-AG |
c.853_854delinsCT |
p.G285L |
Missense |
7/10 |
- |
1 |
7-44187258-CC-AT |
c.853_854delinsAT |
p.G285I |
Missense |
7/10 |
- |
1 |
7-44187258-CC-GG |
c.853_854inv |
p.G285P |
Missense |
7/10 |
- |
1 |
7-44187258-CC-GT |
c.853_854delinsAC |
p.G285T |
Missense |
7/10 |
- |
1 |
7-44187258-CC-TA |
c.853_854delinsTA |
p.G285Y |
Missense |
7/10 |
- |
1 |
7-44187258-CC-TG |
c.853_854delinsCA |
p.G285H |
Missense |
7/10 |
- |
1 |
7-44187258-CC-TT |
c.853_854delinsAA |
p.G285N |
Missense |
7/10 |
- |
1 |
7-44187258-C-G |
c.854G>C |
p.G285A |
Missense |
7/10 |
- |
1 |
7-44187258-C-T |
c.854G>A |
p.G285D |
Missense |
7/10 |
- |
3 |
7-44187259-C-A |
c.853G>T |
p.G285C |
Missense |
7/10 |
- |
1 |
7-44187259-C-G |
c.853G>C |
p.G285R |
Missense |
7/10 |
- |
2 |
7-44187259-C-T |
c.853G>A |
p.G285S |
Missense |
7/10 |
- |
2 |
7-44187260-G-A |
c.852C>T |
p.P284= |
Synonymous |
7/10 |
- |
2 |
7-44187260-GGG-CAT |
c.850_852delinsATG |
p.P284M |
Missense |
7/10 |
- |
1 |
7-44187260-GGG-CCA |
c.850_852delinsTGG |
p.P284W |
Missense |
7/10 |
- |
1 |
7-44187260-GGG-CTC |
c.850_852delinsGAG |
p.P284E |
Missense |
7/10 |
- |
1 |
7-44187260-GGG-CTT |
c.850_852delinsAAG |
p.P284K |
Missense |
7/10 |
- |
1 |
7-44187260-GG-TT |
c.851_852delinsAA |
p.P284Q |
Missense |
7/10 |
- |
1 |
7-44187260-G-T |
c.852C>A |
p.P284= |
Synonymous |
7/10 |
- |
1 |
7-44187261-G-A |
c.851C>T |
p.P284L |
Missense |
7/10 |
- |
1 |
7-44187261-G-C |
c.851C>G |
p.P284R |
Missense |
7/10 |
- |
1 |
7-44187261-GG-AA |
c.850_851delinsTT |
p.P284F |
Missense |
7/10 |
- |
1 |
7-44187261-GG-AC |
c.850_851delinsGT |
p.P284V |
Missense |
7/10 |
- |
1 |
7-44187261-GG-AT |
c.850_851delinsAT |
p.P284I |
Missense |
7/10 |
- |
1 |
7-44187261-GG-CA |
c.850_851delinsTG |
p.P284C |
Missense |
7/10 |
- |
1 |
7-44187261-GG-CC |
c.850_851inv |
p.P284G |
Missense |
7/10 |
- |
1 |
7-44187261-GG-TA |
c.850_851delinsTA |
p.P284Y |
Missense |
7/10 |
- |
1 |
7-44187261-GG-TC |
c.850_851delinsGA |
p.P284D |
Missense |
7/10 |
- |
1 |
7-44187261-GG-TT |
c.850_851delinsAA |
p.P284N |
Missense |
7/10 |
- |
1 |
7-44187261-G-T |
c.851C>A |
p.P284H |
Missense |
7/10 |
- |
1 |
7-44187262-G-A |
c.850C>T |
p.P284S |
Missense |
7/10 |
- |
1 |
7-44187262-G-C |
c.850C>G |
p.P284A |
Missense |
7/10 |
- |
1 |
7-44187262-G-T |
c.850C>A |
p.P284T |
Missense |
7/10 |
- |
1 |
7-44187259-CG-C |
c.852del |
p.G285Vfs*9 |
Frameshift |
7/10 |
- |
3 |
7-44187263-G-A |
c.849C>T |
p.N283= |
Synonymous |
7/10 |
- |
1 |
7-44187263-G-C |
c.849C>G |
p.N283K |
Missense |
7/10 |
- |
1 |
7-44187263-G-T |
c.849C>A |
p.N283K |
Missense |
7/10 |
- |
2 |
7-44187263-GT-CA |
c.848_849delinsTG |
p.N283M |
Missense |
7/10 |
- |
1 |
7-44187263-GT-CC |
c.848_849delinsGG |
p.N283R |
Missense |
7/10 |
- |
1 |
7-44187263-GTT-CCA |
c.847_849delinsTGG |
p.N283W |
Missense |
7/10 |
- |
1 |
7-44187263-GTT-CTC |
c.847_849delinsGAG |
p.N283E |
Missense |
7/10 |
- |
1 |
7-44187263-GTT-TTG |
c.847_849delinsCAA |
p.N283Q |
Missense |
7/10 |
- |
1 |
7-44187264-T-A |
c.848A>T |
p.N283I |
Missense |
7/10 |
- |
1 |
7-44187264-T-C |
c.848A>G |
p.N283S |
Missense |
7/10 |
- |
1 |
7-44187264-T-G |
c.848A>C |
p.N283T |
Missense |
7/10 |
- |
1 |
7-44187264-TT-AA |
c.847_848inv |
p.N283F |
Missense |
7/10 |
- |
1 |
7-44187264-TT-AC |
c.847_848delinsGT |
p.N283V |
Missense |
7/10 |
- |
1 |
7-44187264-TT-AG |
c.847_848delinsCT |
p.N283L |
Missense |
7/10 |
- |
1 |
7-44187264-TT-CA |
c.847_848delinsTG |
p.N283C |
Missense |
7/10 |
- |
1 |
7-44187264-TT-CC |
c.847_848delinsGG |
p.N283G |
Missense |
7/10 |
- |
1 |
7-44187264-TT-GC |
c.847_848delinsGC |
p.N283A |
Missense |
7/10 |
- |
1 |
7-44187264-TT-GG |
c.847_848delinsCC |
p.N283P |
Missense |
7/10 |
- |
1 |
7-44187265-T-A |
c.847A>T |
p.N283Y |
Missense |
7/10 |
- |
1 |
7-44187265-T-C |
c.847A>G |
p.N283D |
Missense |
7/10 |
- |
1 |
7-44187265-T-G |
c.847A>C |
p.N283H |
Missense |
7/10 |
- |
1 |
7-44187263-GT-G |
c.848del |
p.N283Tfs*11 |
Frameshift |
7/10 |
- |
1 |
7-44187266-T-A |
c.846A>T |
p.A282= |
Synonymous |
7/10 |
- |
1 |
7-44187266-TGC-AAA |
c.844_846delinsTTT |
p.A282F |
Missense |
7/10 |
- |
1 |
7-44187266-TGC-ACA |
c.844_846delinsTGT |
p.A282C |
Missense |
7/10 |
- |
1 |
7-44187266-TGC-ATA |
c.844_846delinsTAT |
p.A282Y |
Missense |
7/10 |
- |
1 |
7-44187266-TGC-ATG |
c.844_846delinsCAT |
p.A282H |
Missense |
7/10 |
- |
1 |
7-44187266-TGC-CAT |
c.844_846delinsATG |
p.A282M |
Missense |
7/10 |
- |
1 |
7-44187266-TGC-CCA |
c.844_846delinsTGG |
p.A282W |
Missense |
7/10 |
- |
1 |
7-44187266-TGC-GTT |
c.844_846delinsAAC |
p.A282N |
Missense |
7/10 |
- |
1 |
7-44187266-TG-GT |
c.845_846delinsAC |
p.A282D |
Missense |
7/10 |
- |
1 |
7-44187267-G-A |
c.845C>T |
p.A282V |
Missense |
7/10 |
- |
1 |
7-44187267-G-C |
c.845C>G |
p.A282G |
Missense |
7/10 |
- |
1 |
7-44187267-GC-AG |
c.844_845delinsCT |
p.A282L |
Missense |
7/10 |
- |
1 |
7-44187267-GC-AT |
c.844_845delinsAT |
p.A282I |
Missense |
7/10 |
- |
1 |
7-44187267-GC-CT |
c.844_845delinsAG |
p.A282R |
Missense |
7/10 |
- |
1 |
7-44187267-GC-TG |
c.844_845delinsCA |
p.A282Q |
Missense |
7/10 |
- |
1 |
7-44187267-GC-TT |
c.844_845delinsAA |
p.A282K |
Missense |
7/10 |
- |
1 |
7-44187267-G-T |
c.845C>A |
p.A282E |
Missense |
7/10 |
- |
1 |
7-44187268-C-A |
c.844G>T |
p.A282S |
Missense |
7/10 |
- |
1 |
7-44187268-C-G |
c.844G>C |
p.A282P |
Missense |
7/10 |
- |
1 |
7-44187268-C-T |
c.844G>A |
p.A282T |
Missense |
7/10 |
- |
1 |
7-44187269-AGA-CAT |
c.841_843delinsATG |
p.S281M |
Missense |
7/10 |
- |
1 |
7-44187269-AGA-CTC |
c.841_843delinsGAG |
p.S281E |
Missense |
7/10 |
- |
1 |
7-44187269-AGA-CTT |
c.841_843delinsAAG |
p.S281K |
Missense |
7/10 |
- |
1 |
7-44187269-AGA-TTG |
c.841_843delinsCAA |
p.S281Q |
Missense |
7/10 |
- |
1 |
7-44187269-AG-CC |
c.842_843delinsGG |
p.S281W |
Missense |
7/10 |
- |
1 |
7-44187270-G-A |
c.842C>T |
p.S281F |
Missense |
7/10 |
- |
3 |
7-44187270-GA-AC |
c.841_842delinsGT |
p.S281V |
Missense |
7/10 |
- |
1 |
7-44187270-GA-AG |
c.841_842delinsCT |
p.S281L |
Missense |
7/10 |
- |
1 |
7-44187270-GA-AT |
c.841_842delinsAT |
p.S281I |
Missense |
7/10 |
- |
1 |
7-44187270-GA-CC |
c.841_842delinsGG |
p.S281G |
Missense |
7/10 |
- |
1 |
7-44187270-GA-CG |
c.841_842delinsCG |
p.S281R |
Missense |
7/10 |
- |
1 |
7-44187270-GA-TC |
c.841_842inv |
p.S281D |
Missense |
7/10 |
- |
1 |
7-44187270-GA-TG |
c.841_842delinsCA |
p.S281H |
Missense |
7/10 |
- |
1 |
7-44187270-GA-TT |
c.841_842delinsAA |
p.S281N |
Missense |
7/10 |
- |
1 |
7-44187270-G-C |
c.842C>G |
p.S281C |
Missense |
7/10 |
- |
1 |
7-44187270-G-T |
c.842C>A |
p.S281Y |
Missense |
7/10 |
- |
1 |
7-44187271-A-C |
c.841T>G |
p.S281A |
Missense |
7/10 |
- |
1 |
7-44187271-A-G |
c.841T>C |
p.S281P |
Missense |
7/10 |
- |
2 |
7-44187271-A-T |
c.841T>A |
p.S281T |
Missense |
7/10 |
- |
1 |
7-44187272-G-C |
c.840C>G |
p.S280R |
Missense |
7/10 |
- |
1 |
7-44187272-GC-CA |
c.839_840delinsTG |
p.S280M |
Missense |
7/10 |
- |
1 |
7-44187272-GC-CT |
c.839_840delinsAG |
p.S280K |
Missense |
7/10 |
- |
1 |
7-44187272-GCT-CCA |
c.838_840delinsTGG |
p.S280W |
Missense |
7/10 |
- |
1 |
7-44187272-GCT-CTC |
c.838_840delinsGAG |
p.S280E |
Missense |
7/10 |
- |
1 |
7-44187272-GCT-TTG |
c.838_840delinsCAA |
p.S280Q |
Missense |
7/10 |
- |
1 |
7-44187272-G-T |
c.840C>A |
p.S280R |
Missense |
7/10 |
- |
1 |
7-44187274-T-G |
c.838A>C |
p.S280R |
Missense |
7/10 |
- |
1 |
7-44187273-C-A |
c.839G>T |
p.S280I |
Missense |
7/10 |
- |
1 |
7-44187273-C-G |
c.839G>C |
p.S280T |
Missense |
7/10 |
- |
1 |
7-44187273-C-T |
c.839G>A |
p.S280N |
Missense |
7/10 |
- |
2 |
7-44187273-CT-AA |
c.838_839delinsTT |
p.S280F |
Missense |
7/10 |
- |
1 |
7-44187273-CT-AC |
c.838_839delinsGT |
p.S280V |
Missense |
7/10 |
- |
1 |
7-44187273-CT-AG |
c.838_839inv |
p.S280L |
Missense |
7/10 |
- |
1 |
7-44187273-CT-GC |
c.838_839delinsGC |
p.S280A |
Missense |
7/10 |
- |
1 |
7-44187273-CT-GG |
c.838_839delinsCC |
p.S280P |
Missense |
7/10 |
- |
1 |
7-44187273-CT-TA |
c.838_839delinsTA |
p.S280Y |
Missense |
7/10 |
- |
1 |
7-44187273-CT-TC |
c.838_839delinsGA |
p.S280D |
Missense |
7/10 |
- |
1 |
7-44187273-CT-TG |
c.838_839delinsCA |
p.S280H |
Missense |
7/10 |
- |
1 |
7-44187274-T-A |
c.838A>T |
p.S280C |
Missense |
7/10 |
- |
1 |
7-44187274-T-C |
c.838A>G |
p.S280G |
Missense |
7/10 |
- |
1 |
7-44187275-C-A |
c.837G>T |
p.E279D |
Missense |
7/10 |
- |
3 |
7-44187275-C-G |
c.837G>C |
p.E279D |
Missense |
7/10 |
- |
1 |
7-44187275-CTC-AAA |
c.835_837delinsTTT |
p.E279F |
Missense |
7/10 |
- |
1 |
7-44187275-CTC-ACA |
c.835_837delinsTGT |
p.E279C |
Missense |
7/10 |
- |
1 |
7-44187275-CTC-ATA |
c.835_837delinsTAT |
p.E279Y |
Missense |
7/10 |
- |
1 |
7-44187275-CTC-ATG |
c.835_837delinsCAT |
p.E279H |
Missense |
7/10 |
- |
1 |
7-44187275-CTC-GAT |
c.835_837delinsATC |
p.E279I |
Missense |
7/10 |
- |
1 |
7-44187275-CTC-GTT |
c.835_837delinsAAC |
p.E279N |
Missense |
7/10 |
- |
1 |
7-44187272-GCT-G |
c.838_839del |
p.S280Lfs*10 |
Frameshift |
7/10 |
- |
1 |
7-44187276-T-A |
c.836A>T |
p.E279V |
Missense |
7/10 |
- |
1 |
7-44187276-T-C |
c.836A>G |
p.E279G |
Missense |
7/10 |
- |
5 |
7-44187276-TC-AG |
c.835_836delinsCT |
p.E279L |
Missense |
7/10 |
- |
1 |
7-44187276-TC-AT |
c.835_836delinsAT |
p.E279M |
Missense |
7/10 |
- |
1 |
7-44187276-TC-CA |
c.835_836delinsTG |
p.E279W |
Missense |
7/10 |
- |
1 |
7-44187276-TC-CT |
c.835_836delinsAG |
p.E279R |
Missense |
7/10 |
- |
1 |
7-44187276-TC-GA |
c.835_836inv |
p.E279S |
Missense |
7/10 |
- |
1 |
7-44187276-TC-GG |
c.835_836delinsCC |
p.E279P |
Missense |
7/10 |
- |
1 |
7-44187276-TC-GT |
c.835_836delinsAC |
p.E279T |
Missense |
7/10 |
- |
1 |
7-44187276-T-G |
c.836A>C |
p.E279A |
Missense |
7/10 |
- |
1 |
7-44187277-C-A |
c.835G>T |
p.E279* |
Nonsense |
7/10 |
- |
2 |
7-44187277-C-G |
c.835G>C |
p.E279Q |
Missense |
7/10 |
- |
7 |
7-44187277-C-T |
c.835G>A |
p.E279K |
Missense |
7/10 |
- |
5 |
7-44187278-G-A |
c.834C>T |
p.D278= |
Synonymous |
7/10 |
- |
4 |
7-44187278-G-C |
c.834C>G |
p.D278E |
Missense |
7/10 |
- |
6 |
7-44187278-G-T |
c.834C>A |
p.D278E |
Missense |
7/10 |
- |
7 |
7-44187278-GTC-CAT |
c.832_834delinsATG |
p.D278M |
Missense |
7/10 |
- |
1 |
7-44187278-GTC-CCA |
c.832_834delinsTGG |
p.D278W |
Missense |
7/10 |
- |
1 |
7-44187278-GTC-CTT |
c.832_834delinsAAG |
p.D278K |
Missense |
7/10 |
- |
1 |
7-44187278-GTC-TTG |
c.832_834delinsCAA |
p.D278Q |
Missense |
7/10 |
- |
1 |
7-44187279-T-A |
c.833A>T |
p.D278V |
Missense |
7/10 |
- |
3 |
7-44187279-T-C |
c.833A>G |
p.D278G |
Missense |
7/10 |
- |
1 |
7-44187279-TC-AA |
c.832_833delinsTT |
p.D278F |
Missense |
7/10 |
- |
1 |
7-44187279-TC-AG |
c.832_833delinsCT |
p.D278L |
Missense |
7/10 |
- |
1 |
7-44187279-TC-AT |
c.832_833delinsAT |
p.D278I |
Missense |
7/10 |
- |
1 |
7-44187279-TC-CA |
c.832_833delinsTG |
p.D278C |
Missense |
7/10 |
- |
1 |
7-44187279-TC-CG |
c.832_833delinsCG |
p.D278R |
Missense |
7/10 |
- |
1 |
7-44187279-TC-CT |
c.832_833delinsAG |
p.D278S |
Missense |
7/10 |
- |
1 |
7-44187279-TC-GG |
c.832_833delinsCC |
p.D278P |
Missense |
7/10 |
- |
1 |
7-44187279-TC-GT |
c.832_833delinsAC |
p.D278T |
Missense |
7/10 |
- |
1 |
7-44187279-T-G |
c.833A>C |
p.D278A |
Missense |
7/10 |
- |
1 |
7-44187280-C-A |
c.832G>T |
p.D278Y |
Missense |
7/10 |
- |
1 |
7-44187280-C-G |
c.832G>C |
p.D278H |
Missense |
7/10 |
- |
3 |
7-44187280-C-T |
c.832G>A |
p.D278N |
Missense |
7/10 |
- |
2 |
7-44187279-TC-T |
c.832del |
p.D278Tfs*16 |
Frameshift |
7/10 |
- |
1 |
7-44187281-CAC-AAA |
c.829_831delinsTTT |
p.V277F |
Missense |
7/10 |
- |
1 |
7-44187281-CAC-ACA |
c.829_831delinsTGT |
p.V277C |
Missense |
7/10 |
- |
1 |
7-44187281-CAC-ATA |
c.829_831delinsTAT |
p.V277Y |
Missense |
7/10 |
- |
1 |
7-44187281-CAC-ATG |
c.829_831delinsCAT |
p.V277H |
Missense |
7/10 |
- |
1 |
7-44187281-CAC-GAT |
c.829_831delinsATC |
p.V277I |
Missense |
7/10 |
- |
1 |
7-44187281-CAC-GTT |
c.829_831delinsAAC |
p.V277N |
Missense |
7/10 |
- |
1 |
7-44187281-CA-GT |
c.830_831delinsAC |
p.V277D |
Missense |
7/10 |
- |
1 |
7-44187282-A-C |
c.830T>G |
p.V277G |
Missense |
7/10 |
- |
1 |
7-44187282-AC-CA |
c.829_830delinsTG |
p.V277W |
Missense |
7/10 |
- |
1 |
7-44187282-AC-CT |
c.829_830delinsAG |
p.V277R |
Missense |
7/10 |
- |
2 |
7-44187282-AC-GA |
c.829_830delinsTC |
p.V277S |
Missense |
7/10 |
- |
1 |
7-44187282-AC-GG |
c.829_830delinsCC |
p.V277P |
Missense |
7/10 |
- |
1 |
7-44187282-AC-GT |
c.829_830inv |
p.V277T |
Missense |
7/10 |
- |
1 |
7-44187282-AC-TG |
c.829_830delinsCA |
p.V277Q |
Missense |
7/10 |
- |
1 |
7-44187282-AC-TT |
c.829_830delinsAA |
p.V277K |
Missense |
7/10 |
- |
1 |
7-44187282-A-G |
c.830T>C |
p.V277A |
Missense |
7/10 |
- |
1 |
7-44187282-A-T |
c.830T>A |
p.V277E |
Missense |
7/10 |
- |
1 |
7-44187283-C-A |
c.829G>T |
p.V277L |
Missense |
7/10 |
- |
1 |
7-44187283-C-G |
c.829G>C |
p.V277L |
Missense |
7/10 |
- |
1 |
7-44187283-C-T |
c.829G>A |
p.V277M |
Missense |
7/10 |
- |
2 |
7-44187284-CA-AT |
c.827_828delinsAT |
p.L276H |
Missense |
7/10 |
- |
1 |
7-44187284-CAG-AAA |
c.826_828delinsTTT |
p.L276F |
Missense |
7/10 |
- |
1 |
7-44187284-CAG-ACA |
c.826_828delinsTGT |
p.L276C |
Missense |
7/10 |
- |
1 |
7-44187284-CAG-ATA |
c.826_828delinsTAT |
p.L276Y |
Missense |
7/10 |
- |
1 |
7-44187284-CAG-GAT |
c.826_828delinsATC |
p.L276I |
Missense |
7/10 |
- |
1 |
7-44187284-CAG-GTC |
c.826_828delinsGAC |
p.L276D |
Missense |
7/10 |
- |
1 |
7-44187284-CAG-GTT |
c.826_828delinsAAC |
p.L276N |
Missense |
7/10 |
- |
1 |
7-44187285-A-C |
c.827T>G |
p.L276R |
Missense |
7/10 |
- |
1 |
7-44187285-A-G |
c.827T>C |
p.L276P |
Missense |
7/10 |
- |
4 |
7-44187285-AG-CA |
c.826_827delinsTG |
p.L276W |
Missense |
7/10 |
- |
1 |
7-44187285-AG-CC |
c.826_827delinsGG |
p.L276G |
Missense |
7/10 |
- |
1 |
7-44187285-AG-GA |
c.826_827delinsTC |
p.L276S |
Missense |
7/10 |
- |
1 |
7-44187285-AG-GC |
c.826_827delinsGC |
p.L276A |
Missense |
7/10 |
- |
1 |
7-44187285-AG-GT |
c.826_827delinsAC |
p.L276T |
Missense |
7/10 |
- |
1 |
7-44187285-AG-TC |
c.826_827delinsGA |
p.L276E |
Missense |
7/10 |
- |
1 |
7-44187285-AG-TT |
c.826_827delinsAA |
p.L276K |
Missense |
7/10 |
- |
1 |
7-44187285-A-T |
c.827T>A |
p.L276Q |
Missense |
7/10 |
- |
1 |
7-44187286-G-C |
c.826C>G |
p.L276V |
Missense |
7/10 |
- |
2 |
7-44187286-G-T |
c.826C>A |
p.L276M |
Missense |
7/10 |
- |
1 |
7-44187287-GCG-CAT |
c.823_825delinsATG |
p.R275M |
Missense |
7/10 |
- |
1 |
7-44187287-GCG-CCA |
c.823_825delinsTGG |
p.R275W |
Missense |
7/10 |
- |
1 |
7-44187287-GCG-CTC |
c.823_825delinsGAG |
p.R275E |
Missense |
7/10 |
- |
1 |
7-44187287-GCG-CTT |
c.823_825delinsAAG |
p.R275K |
Missense |
7/10 |
- |
1 |
7-44187287-GCG-TCA |
c.823_825delinsTGA |
p.R275* |
Nonsense |
7/10 |
- |
1 |
7-44187287-GC-TT |
c.824_825delinsAA |
p.R275Q |
Missense |
7/10 |
- |
1 |
7-44187288-C-A |
c.824G>T |
p.R275L |
Missense |
7/10 |
- |
5 |
7-44187288-C-G |
c.824G>C |
p.R275P |
Missense |
7/10 |
- |
4 |
7-44187288-CG-AA |
c.823_824delinsTT |
p.R275F |
Missense |
7/10 |
- |
1 |
7-44187288-CG-AC |
c.823_824delinsGT |
p.R275V |
Missense |
7/10 |
- |
1 |
7-44187288-CG-AT |
c.823_824delinsAT |
p.R275I |
Missense |
7/10 |
- |
1 |
7-44187288-CG-GC |
c.823_824delinsGC |
p.R275A |
Missense |
7/10 |
- |
1 |
7-44187288-CG-GT |
c.823_824delinsAC |
p.R275T |
Missense |
7/10 |
- |
1 |
7-44187288-CG-TA |
c.823_824delinsTA |
p.R275Y |
Missense |
7/10 |
- |
1 |
7-44187288-CG-TC |
c.823_824delinsGA |
p.R275D |
Missense |
7/10 |
- |
1 |
7-44187288-CG-TT |
c.823_824delinsAA |
p.R275N |
Missense |
7/10 |
- |
1 |
7-44187288-C-T |
c.824G>A |
p.R275H |
Missense |
7/10 |
- |
7 |
7-44187289-G-A |
c.823C>T |
p.R275C |
Missense |
7/10 |
- |
16 |
7-44187289-G-C |
c.823C>G |
p.R275G |
Missense |
7/10 |
- |
1 |
7-44187289-G-T |
c.823C>A |
p.R275S |
Missense |
7/10 |
- |
1 |
7-44187290-G-A |
c.822C>T |
p.D274= |
Synonymous |
7/10 |
- |
1 |
7-44187290-G-C |
c.822C>G |
p.D274E |
Missense |
7/10 |
- |
2 |
7-44187290-G-T |
c.822C>A |
p.D274E |
Missense |
7/10 |
- |
4 |
7-44187290-GTC-CAT |
c.820_822delinsATG |
p.D274M |
Missense |
7/10 |
- |
1 |
7-44187290-GTC-CCA |
c.820_822delinsTGG |
p.D274W |
Missense |
7/10 |
- |
1 |
7-44187290-GTC-CTT |
c.820_822delinsAAG |
p.D274K |
Missense |
7/10 |
- |
1 |
7-44187290-GTC-TTG |
c.820_822delinsCAA |
p.D274Q |
Missense |
7/10 |
- |
1 |
7-44187291-T-A |
c.821A>T |
p.D274V |
Missense |
7/10 |
- |
1 |
7-44187291-T-C |
c.821A>G |
p.D274G |
Missense |
7/10 |
- |
2 |
7-44187291-TC-AA |
c.820_821delinsTT |
p.D274F |
Missense |
7/10 |
- |
1 |
7-44187291-TC-AG |
c.820_821delinsCT |
p.D274L |
Missense |
7/10 |
- |
1 |
7-44187291-TC-AT |
c.820_821delinsAT |
p.D274I |
Missense |
7/10 |
- |
1 |
7-44187291-TC-CA |
c.820_821delinsTG |
p.D274C |
Missense |
7/10 |
- |
1 |
7-44187291-TC-CG |
c.820_821delinsCG |
p.D274R |
Missense |
7/10 |
- |
1 |
7-44187291-TC-CT |
c.820_821delinsAG |
p.D274S |
Missense |
7/10 |
- |
1 |
7-44187291-TC-GG |
c.820_821delinsCC |
p.D274P |
Missense |
7/10 |
- |
1 |
7-44187291-TC-GT |
c.820_821delinsAC |
p.D274T |
Missense |
7/10 |
- |
1 |
7-44187291-T-G |
c.821A>C |
p.D274A |
Missense |
7/10 |
- |
1 |
7-44187292-C-A |
c.820G>T |
p.D274Y |
Missense |
7/10 |
- |
1 |
7-44187292-C-G |
c.820G>C |
p.D274H |
Missense |
7/10 |
- |
1 |
7-44187292-C-T |
c.820G>A |
p.D274N |
Missense |
7/10 |
- |
2 |
7-44187293-ATA-CAT |
c.817_819delinsATG |
p.Y273M |
Missense |
7/10 |
- |
1 |
7-44187293-ATA-CTC |
c.817_819delinsGAG |
p.Y273E |
Missense |
7/10 |
- |
1 |
7-44187293-ATA-CTT |
c.817_819delinsAAG |
p.Y273K |
Missense |
7/10 |
- |
1 |
7-44187293-ATA-TTG |
c.817_819delinsCAA |
p.Y273Q |
Missense |
7/10 |
- |
1 |
7-44187293-AT-CC |
c.818_819delinsGG |
p.Y273W |
Missense |
7/10 |
- |
1 |
7-44187294-T-A |
c.818A>T |
p.Y273F |
Missense |
7/10 |
- |
1 |
7-44187294-TA-AC |
c.817_818delinsGT |
p.Y273V |
Missense |
7/10 |
- |
1 |
7-44187294-TA-AG |
c.817_818delinsCT |
p.Y273L |
Missense |
7/10 |
- |
1 |
7-44187294-TA-AT |
c.817_818delinsAT |
p.Y273I |
Missense |
7/10 |
- |
1 |
7-44187294-TA-CC |
c.817_818delinsGG |
p.Y273G |
Missense |
7/10 |
- |
1 |
7-44187294-TA-CG |
c.817_818delinsCG |
p.Y273R |
Missense |
7/10 |
- |
1 |
7-44187294-TA-GC |
c.817_818delinsGC |
p.Y273A |
Missense |
7/10 |
- |
1 |
7-44187294-TA-GG |
c.817_818delinsCC |
p.Y273P |
Missense |
7/10 |
- |
1 |
7-44187294-TA-GT |
c.817_818delinsAC |
p.Y273T |
Missense |
7/10 |
- |
1 |
7-44187294-T-C |
c.818A>G |
p.Y273C |
Missense |
7/10 |
- |
1 |
7-44187294-T-G |
c.818A>C |
p.Y273S |
Missense |
7/10 |
- |
1 |
7-44187295-A-C |
c.817T>G |
p.Y273D |
Missense |
7/10 |
- |
1 |
7-44187295-A-G |
c.817T>C |
p.Y273H |
Missense |
7/10 |
- |
1 |
7-44187295-A-T |
c.817T>A |
p.Y273N |
Missense |
7/10 |
- |
2 |
7-44187296-C-A |
c.816G>T |
p.E272D |
Missense |
7/10 |
- |
1 |
7-44187296-C-G |
c.816G>C |
p.E272D |
Missense |
7/10 |
- |
1 |
7-44187296-CTC-AAA |
c.814_816delinsTTT |
p.E272F |
Missense |
7/10 |
- |
1 |
7-44187296-CTC-ACA |
c.814_816delinsTGT |
p.E272C |
Missense |
7/10 |
- |
1 |
7-44187296-CTC-ATA |
c.814_816delinsTAT |
p.E272Y |
Missense |
7/10 |
- |
1 |
7-44187296-CTC-ATG |
c.814_816delinsCAT |
p.E272H |
Missense |
7/10 |
- |
1 |
7-44187296-CTC-GAT |
c.814_816delinsATC |
p.E272I |
Missense |
7/10 |
- |
1 |
7-44187296-CTC-GTT |
c.814_816delinsAAC |
p.E272N |
Missense |
7/10 |
- |
1 |
7-44187297-T-A |
c.815A>T |
p.E272V |
Missense |
7/10 |
- |
1 |
7-44187297-T-C |
c.815A>G |
p.E272G |
Missense |
7/10 |
- |
1 |
7-44187297-TC-AG |
c.814_815delinsCT |
p.E272L |
Missense |
7/10 |
- |
1 |
7-44187297-TC-AT |
c.814_815delinsAT |
p.E272M |
Missense |
7/10 |
- |
1 |
7-44187297-TC-CA |
c.814_815delinsTG |
p.E272W |
Missense |
7/10 |
- |
1 |
7-44187297-TC-CT |
c.814_815delinsAG |
p.E272R |
Missense |
7/10 |
- |
1 |
7-44187297-TC-GA |
c.814_815inv |
p.E272S |
Missense |
7/10 |
- |
1 |
7-44187297-TC-GG |
c.814_815delinsCC |
p.E272P |
Missense |
7/10 |
- |
1 |
7-44187297-TC-GT |
c.814_815delinsAC |
p.E272T |
Missense |
7/10 |
- |
1 |
7-44187297-T-G |
c.815A>C |
p.E272A |
Missense |
7/10 |
- |
2 |
7-44187298-C-G |
c.814G>C |
p.E272Q |
Missense |
7/10 |
- |
1 |
7-44187298-C-T |
c.814G>A |
p.E272K |
Missense |
7/10 |
- |
1 |
7-44187299-CA-AT |
c.812_813delinsAT |
p.L271H |
Missense |
7/10 |
- |
1 |
7-44187299-CAG-AAA |
c.811_813delinsTTT |
p.L271F |
Missense |
7/10 |
- |
1 |
7-44187299-CAG-ACA |
c.811_813delinsTGT |
p.L271C |
Missense |
7/10 |
- |
1 |
7-44187299-CAG-ATA |
c.811_813delinsTAT |
p.L271Y |
Missense |
7/10 |
- |
1 |
7-44187299-CAG-GAT |
c.811_813delinsATC |
p.L271I |
Missense |
7/10 |
- |
1 |
7-44187299-CAG-GTC |
c.811_813delinsGAC |
p.L271D |
Missense |
7/10 |
- |
1 |
7-44187299-CAG-GTT |
c.811_813delinsAAC |
p.L271N |
Missense |
7/10 |
- |
1 |
7-44187299-C-T |
c.813G>A |
p.L271= |
Synonymous |
7/10 |
- |
1 |
7-44187300-A-C |
c.812T>G |
p.L271R |
Missense |
7/10 |
- |
1 |
7-44187300-A-G |
c.812T>C |
p.L271P |
Missense |
7/10 |
- |
6 |
7-44187300-AG-CA |
c.811_812delinsTG |
p.L271W |
Missense |
7/10 |
- |
1 |
7-44187300-AG-CC |
c.811_812delinsGG |
p.L271G |
Missense |
7/10 |
- |
1 |
7-44187300-AG-GA |
c.811_812delinsTC |
p.L271S |
Missense |
7/10 |
- |
1 |
7-44187300-AG-GC |
c.811_812delinsGC |
p.L271A |
Missense |
7/10 |
- |
1 |
7-44187300-AG-GT |
c.811_812delinsAC |
p.L271T |
Missense |
7/10 |
- |
1 |
7-44187300-AG-TC |
c.811_812delinsGA |
p.L271E |
Missense |
7/10 |
- |
1 |
7-44187300-AG-TT |
c.811_812delinsAA |
p.L271K |
Missense |
7/10 |
- |
1 |
7-44187300-A-T |
c.812T>A |
p.L271Q |
Missense |
7/10 |
- |
1 |
7-44187301-G-A |
c.811C>T |
p.L271= |
Synonymous |
7/10 |
- |
4 |
7-44187301-G-C |
c.811C>G |
p.L271V |
Missense |
7/10 |
- |
1 |
7-44187301-G-T |
c.811C>A |
p.L271M |
Missense |
7/10 |
- |
4 |
7-44187302-CA-AT |
c.809_810delinsAT |
p.L270H |
Missense |
7/10 |
- |
1 |
7-44187302-CAG-AAA |
c.808_810delinsTTT |
p.L270F |
Missense |
7/10 |
- |
1 |
7-44187302-CAG-ACA |
c.808_810delinsTGT |
p.L270C |
Missense |
7/10 |
- |
1 |
7-44187302-CAG-ATA |
c.808_810delinsTAT |
p.L270Y |
Missense |
7/10 |
- |
1 |
7-44187302-CAG-GAT |
c.808_810delinsATC |
p.L270I |
Missense |
7/10 |
- |
1 |
7-44187302-CAG-GTC |
c.808_810delinsGAC |
p.L270D |
Missense |
7/10 |
- |
1 |
7-44187302-CAG-GTT |
c.808_810delinsAAC |
p.L270N |
Missense |
7/10 |
- |
1 |
7-44187303-A-C |
c.809T>G |
p.L270R |
Missense |
7/10 |
- |
1 |
7-44187303-A-G |
c.809T>C |
p.L270P |
Missense |
7/10 |
- |
1 |
7-44187303-AG-CA |
c.808_809delinsTG |
p.L270W |
Missense |
7/10 |
- |
1 |
7-44187303-AG-CC |
c.808_809delinsGG |
p.L270G |
Missense |
7/10 |
- |
1 |
7-44187303-AG-GA |
c.808_809delinsTC |
p.L270S |
Missense |
7/10 |
- |
1 |
7-44187303-AG-GC |
c.808_809delinsGC |
p.L270A |
Missense |
7/10 |
- |
1 |
7-44187303-AG-GT |
c.808_809delinsAC |
p.L270T |
Missense |
7/10 |
- |
1 |
7-44187303-AG-TC |
c.808_809delinsGA |
p.L270E |
Missense |
7/10 |
- |
1 |
7-44187303-AG-TT |
c.808_809delinsAA |
p.L270K |
Missense |
7/10 |
- |
1 |
7-44187303-A-T |
c.809T>A |
p.L270Q |
Missense |
7/10 |
- |
1 |
7-44187304-G-C |
c.808C>G |
p.L270V |
Missense |
7/10 |
- |
3 |
7-44187304-G-T |
c.808C>A |
p.L270M |
Missense |
7/10 |
- |
2 |
7-44187305-G-C |
c.807C>G |
p.F269L |
Missense |
7/10 |
- |
2 |
7-44187305-G-T |
c.807C>A |
p.F269L |
Missense |
7/10 |
- |
1 |
7-44187307-A-G |
c.805T>C |
p.F269L |
Missense |
7/10 |
- |
2 |
7-44187308-C-A |
c.804G>T |
p.E268D |
Missense |
7/10 |
- |
1 |
7-44187308-C-G |
c.804G>C |
p.E268D |
Missense |
7/10 |
- |
1 |
7-44187308-CTC-AAA |
c.802_804delinsTTT |
p.E268F |
Missense |
7/10 |
- |
1 |
7-44187308-CTC-ACA |
c.802_804delinsTGT |
p.E268C |
Missense |
7/10 |
- |
1 |
7-44187308-CTC-ATA |
c.802_804delinsTAT |
p.E268Y |
Missense |
7/10 |
- |
1 |
7-44187308-CTC-ATG |
c.802_804delinsCAT |
p.E268H |
Missense |
7/10 |
- |
1 |
7-44187308-CTC-GAT |
c.802_804delinsATC |
p.E268I |
Missense |
7/10 |
- |
1 |
7-44187308-CTC-GTT |
c.802_804delinsAAC |
p.E268N |
Missense |
7/10 |
- |
1 |
7-44187309-T-A |
c.803A>T |
p.E268V |
Missense |
7/10 |
- |
1 |
7-44187309-T-C |
c.803A>G |
p.E268G |
Missense |
7/10 |
- |
1 |
7-44187309-TC-AG |
c.802_803delinsCT |
p.E268L |
Missense |
7/10 |
- |
1 |
7-44187309-TC-AT |
c.802_803delinsAT |
p.E268M |
Missense |
7/10 |
- |
1 |
7-44187309-TC-CA |
c.802_803delinsTG |
p.E268W |
Missense |
7/10 |
- |
1 |
7-44187309-TC-CT |
c.802_803delinsAG |
p.E268R |
Missense |
7/10 |
- |
1 |
7-44187309-TC-GA |
c.802_803inv |
p.E268S |
Missense |
7/10 |
- |
1 |
7-44187309-TC-GG |
c.802_803delinsCC |
p.E268P |
Missense |
7/10 |
- |
1 |
7-44187309-TC-GT |
c.802_803delinsAC |
p.E268T |
Missense |
7/10 |
- |
1 |
7-44187309-T-G |
c.803A>C |
p.E268A |
Missense |
7/10 |
- |
1 |
7-44187310-C-A |
c.802G>T |
p.E268* |
Nonsense |
7/10 |
- |
1 |
7-44187310-C-G |
c.802G>C |
p.E268Q |
Missense |
7/10 |
- |
1 |
7-44187310-C-T |
c.802G>A |
p.E268K |
Missense |
7/10 |
- |
4 |
7-44187311-G-A |
c.801C>T |
p.D267= |
Synonymous |
7/10 |
- |
2 |
7-44187311-G-C |
c.801C>G |
p.D267E |
Missense |
7/10 |
- |
2 |
7-44187311-G-T |
c.801C>A |
p.D267E |
Missense |
7/10 |
- |
1 |
7-44187311-GTC-CAT |
c.799_801delinsATG |
p.D267M |
Missense |
7/10 |
- |
1 |
7-44187311-GTC-CCA |
c.799_801delinsTGG |
p.D267W |
Missense |
7/10 |
- |
1 |
7-44187311-GTC-CTT |
c.799_801delinsAAG |
p.D267K |
Missense |
7/10 |
- |
1 |
7-44187311-GTC-TTG |
c.799_801delinsCAA |
p.D267Q |
Missense |
7/10 |
- |
1 |
7-44187312-T-A |
c.800A>T |
p.D267V |
Missense |
7/10 |
- |
1 |
7-44187312-T-C |
c.800A>G |
p.D267G |
Missense |
7/10 |
- |
1 |
7-44187312-TC-AA |
c.799_800delinsTT |
p.D267F |
Missense |
7/10 |
- |
1 |
7-44187312-TC-AG |
c.799_800delinsCT |
p.D267L |
Missense |
7/10 |
- |
1 |
7-44187312-TC-AT |
c.799_800delinsAT |
p.D267I |
Missense |
7/10 |
- |
1 |
7-44187312-TC-CA |
c.799_800delinsTG |
p.D267C |
Missense |
7/10 |
- |
1 |
7-44187312-TC-CG |
c.799_800delinsCG |
p.D267R |
Missense |
7/10 |
- |
1 |
7-44187312-TC-CT |
c.799_800delinsAG |
p.D267S |
Missense |
7/10 |
- |
1 |
7-44187312-TC-GG |
c.799_800delinsCC |
p.D267P |
Missense |
7/10 |
- |
1 |
7-44187312-TC-GT |
c.799_800delinsAC |
p.D267T |
Missense |
7/10 |
- |
1 |
7-44187312-T-G |
c.800A>C |
p.D267A |
Missense |
7/10 |
- |
1 |
7-44187313-C-A |
c.799G>T |
p.D267Y |
Missense |
7/10 |
- |
1 |
7-44187313-C-G |
c.799G>C |
p.D267H |
Missense |
7/10 |
- |
1 |
7-44187313-C-T |
c.799G>A |
p.D267N |
Missense |
7/10 |
- |
2 |
7-44187314-C-A |
c.798G>T |
p.L266= |
Synonymous |
7/10 |
- |
1 |
7-44187314-CA-AT |
c.797_798delinsAT |
p.L266H |
Missense |
7/10 |
- |
1 |
7-44187314-CAG-AAA |
c.796_798delinsTTT |
p.L266F |
Missense |
7/10 |
- |
1 |
7-44187314-CAG-ACA |
c.796_798delinsTGT |
p.L266C |
Missense |
7/10 |
- |
1 |
7-44187314-CAG-ATA |
c.796_798delinsTAT |
p.L266Y |
Missense |
7/10 |
- |
1 |
7-44187314-CAG-GAT |
c.796_798delinsATC |
p.L266I |
Missense |
7/10 |
- |
1 |
7-44187314-CAG-GTC |
c.796_798delinsGAC |
p.L266D |
Missense |
7/10 |
- |
1 |
7-44187314-CAG-GTT |
c.796_798delinsAAC |
p.L266N |
Missense |
7/10 |
- |
1 |
7-44187314-C-G |
c.798G>C |
p.L266= |
Synonymous |
7/10 |
- |
1 |
7-44187314-C-T |
c.798G>A |
p.L266= |
Synonymous |
7/10 |
- |
1 |
7-44187316-G-A |
c.796C>T |
p.L266= |
Synonymous |
7/10 |
- |
2 |
7-44187315-A-C |
c.797T>G |
p.L266R |
Missense |
7/10 |
- |
1 |
7-44187315-A-G |
c.797T>C |
p.L266P |
Missense |
7/10 |
- |
1 |
7-44187315-AG-CA |
c.796_797delinsTG |
p.L266W |
Missense |
7/10 |
- |
1 |
7-44187315-AG-CC |
c.796_797delinsGG |
p.L266G |
Missense |
7/10 |
- |
1 |
7-44187315-AG-GA |
c.796_797delinsTC |
p.L266S |
Missense |
7/10 |
- |
1 |
7-44187315-AG-GC |
c.796_797delinsGC |
p.L266A |
Missense |
7/10 |
- |
1 |
7-44187315-AG-GT |
c.796_797delinsAC |
p.L266T |
Missense |
7/10 |
- |
1 |
7-44187315-AG-TC |
c.796_797delinsGA |
p.L266E |
Missense |
7/10 |
- |
1 |
7-44187315-AG-TT |
c.796_797delinsAA |
p.L266K |
Missense |
7/10 |
- |
1 |
7-44187315-A-T |
c.797T>A |
p.L266Q |
Missense |
7/10 |
- |
2 |
7-44187316-G-C |
c.796C>G |
p.L266V |
Missense |
7/10 |
- |
1 |
7-44187316-G-T |
c.796C>A |
p.L266M |
Missense |
7/10 |
- |
1 |
7-44187317-C-A |
c.795G>T |
p.E265D |
Missense |
7/10 |
- |
1 |
7-44187317-C-G |
c.795G>C |
p.E265D |
Missense |
7/10 |
- |
1 |
7-44187317-CTC-AAA |
c.793_795delinsTTT |
p.E265F |
Missense |
7/10 |
- |
1 |
7-44187317-CTC-ACA |
c.793_795delinsTGT |
p.E265C |
Missense |
7/10 |
- |
1 |
7-44187317-CTC-ATA |
c.793_795delinsTAT |
p.E265Y |
Missense |
7/10 |
- |
1 |
7-44187317-CTC-ATG |
c.793_795delinsCAT |
p.E265H |
Missense |
7/10 |
- |
1 |
7-44187317-CTC-GAT |
c.793_795delinsATC |
p.E265I |
Missense |
7/10 |
- |
1 |
7-44187317-CTC-GTT |
c.793_795delinsAAC |
p.E265N |
Missense |
7/10 |
- |
1 |
7-44187318-T-A |
c.794A>T |
p.E265V |
Missense |
7/10 |
- |
3 |
7-44187318-T-C |
c.794A>G |
p.E265G |
Missense |
7/10 |
- |
1 |
7-44187318-TC-AG |
c.793_794delinsCT |
p.E265L |
Missense |
7/10 |
- |
1 |
7-44187318-TC-AT |
c.793_794delinsAT |
p.E265M |
Missense |
7/10 |
- |
1 |
7-44187318-TC-CA |
c.793_794delinsTG |
p.E265W |
Missense |
7/10 |
- |
1 |
7-44187318-TC-CT |
c.793_794delinsAG |
p.E265R |
Missense |
7/10 |
- |
1 |
7-44187318-TC-GA |
c.793_794inv |
p.E265S |
Missense |
7/10 |
- |
1 |
7-44187318-TC-GG |
c.793_794delinsCC |
p.E265P |
Missense |
7/10 |
- |
1 |
7-44187318-TC-GT |
c.793_794delinsAC |
p.E265T |
Missense |
7/10 |
- |
1 |
7-44187318-T-G |
c.794A>C |
p.E265A |
Missense |
7/10 |
- |
1 |
7-44187319-C-A |
c.793G>T |
p.E265* |
Nonsense |
7/10 |
- |
1 |
7-44187319-C-G |
c.793G>C |
p.E265Q |
Missense |
7/10 |
- |
1 |
7-44187319-C-T |
c.793G>A |
p.E265K |
Missense |
7/10 |
- |
10 |
7-44187320-G-A |
c.792C>T |
p.G264= |
Synonymous |
7/10 |
- |
2 |
7-44187320-G-C |
c.792C>G |
p.G264= |
Synonymous |
7/10 |
- |
1 |
7-44187320-GCC-CAT |
c.790_792delinsATG |
p.G264M |
Missense |
7/10 |
- |
1 |
7-44187320-GCC-CCA |
c.790_792delinsTGG |
p.G264W |
Missense |
7/10 |
- |
1 |
7-44187320-GCC-CTT |
c.790_792delinsAAG |
p.G264K |
Missense |
7/10 |
- |
1 |
7-44187320-GC-CT |
c.791_792delinsAG |
p.G264E |
Missense |
7/10 |
- |
1 |
7-44187320-GCC-TTG |
c.790_792delinsCAA |
p.G264Q |
Missense |
7/10 |
- |
1 |
7-44187320-G-T |
c.792C>A |
p.G264= |
Synonymous |
7/10 |
- |
2 |
7-44187321-C-A |
c.791G>T |
p.G264V |
Missense |
7/10 |
- |
1 |
7-44187321-CC-AA |
c.790_791delinsTT |
p.G264F |
Missense |
7/10 |
- |
1 |
7-44187321-CC-AG |
c.790_791delinsCT |
p.G264L |
Missense |
7/10 |
- |
1 |
7-44187321-CC-AT |
c.790_791delinsAT |
p.G264I |
Missense |
7/10 |
- |
1 |
7-44187321-CC-GG |
c.790_791inv |
p.G264P |
Missense |
7/10 |
- |
1 |
7-44187321-CC-GT |
c.790_791delinsAC |
p.G264T |
Missense |
7/10 |
- |
1 |
7-44187321-CC-TA |
c.790_791delinsTA |
p.G264Y |
Missense |
7/10 |
- |
1 |
7-44187321-CC-TG |
c.790_791delinsCA |
p.G264H |
Missense |
7/10 |
- |
1 |
7-44187321-CC-TT |
c.790_791delinsAA |
p.G264N |
Missense |
7/10 |
- |
1 |
7-44187321-C-G |
c.791G>C |
p.G264A |
Missense |
7/10 |
- |
1 |
7-44187321-C-T |
c.791G>A |
p.G264D |
Missense |
7/10 |
- |
2 |
7-44187322-C-A |
c.790G>T |
p.G264C |
Missense |
7/10 |
- |
1 |
7-44187322-C-G |
c.790G>C |
p.G264R |
Missense |
7/10 |
- |
1 |
7-44187322-C-T |
c.790G>A |
p.G264S |
Missense |
7/10 |
- |
10 |
7-44187323-GGA-CAT |
c.787_789delinsATG |
p.S263M |
Missense |
7/10 |
- |
1 |
7-44187323-GGA-CTC |
c.787_789delinsGAG |
p.S263E |
Missense |
7/10 |
- |
1 |
7-44187323-GGA-CTT |
c.787_789delinsAAG |
p.S263K |
Missense |
7/10 |
- |
1 |
7-44187323-GGA-TTG |
c.787_789delinsCAA |
p.S263Q |
Missense |
7/10 |
- |
1 |
7-44187323-GG-CC |
c.788_789inv |
p.S263W |
Missense |
7/10 |
- |
1 |
7-44187324-G-A |
c.788C>T |
p.S263F |
Missense |
7/10 |
- |
2 |
7-44187324-GA-AC |
c.787_788delinsGT |
p.S263V |
Missense |
7/10 |
- |
1 |
7-44187324-GA-AG |
c.787_788delinsCT |
p.S263L |
Missense |
7/10 |
- |
1 |
7-44187324-GA-AT |
c.787_788delinsAT |
p.S263I |
Missense |
7/10 |
- |
1 |
7-44187324-GA-CC |
c.787_788delinsGG |
p.S263G |
Missense |
7/10 |
- |
1 |
7-44187324-GA-CG |
c.787_788delinsCG |
p.S263R |
Missense |
7/10 |
- |
1 |
7-44187324-GA-TC |
c.787_788inv |
p.S263D |
Missense |
7/10 |
- |
1 |
7-44187324-GA-TG |
c.787_788delinsCA |
p.S263H |
Missense |
7/10 |
- |
1 |
7-44187324-GA-TT |
c.787_788delinsAA |
p.S263N |
Missense |
7/10 |
- |
1 |
7-44187324-G-C |
c.788C>G |
p.S263C |
Missense |
7/10 |
- |
1 |
7-44187324-G-T |
c.788C>A |
p.S263Y |
Missense |
7/10 |
- |
2 |
7-44187325-A-C |
c.787T>G |
p.S263A |
Missense |
7/10 |
- |
2 |
7-44187325-A-G |
c.787T>C |
p.S263P |
Missense |
7/10 |
- |
16 |
7-44187325-A-T |
c.787T>A |
p.S263T |
Missense |
7/10 |
- |
1 |
7-44187326-G-C |
c.786C>G |
p.D262E |
Missense |
7/10 |
- |
1 |
7-44187326-G-T |
c.786C>A |
p.D262E |
Missense |
7/10 |
- |
1 |
7-44187326-GTC-CAT |
c.784_786delinsATG |
p.D262M |
Missense |
7/10 |
- |
1 |
7-44187326-GTC-CCA |
c.784_786delinsTGG |
p.D262W |
Missense |
7/10 |
- |
1 |
7-44187326-GTC-CTT |
c.784_786delinsAAG |
p.D262K |
Missense |
7/10 |
- |
1 |
7-44187326-GTC-TTG |
c.784_786delinsCAA |
p.D262Q |
Missense |
7/10 |
- |
1 |
7-44187327-T-A |
c.785A>T |
p.D262V |
Missense |
7/10 |
- |
1 |
7-44187327-T-C |
c.785A>G |
p.D262G |
Missense |
7/10 |
- |
1 |
7-44187327-TC-AA |
c.784_785delinsTT |
p.D262F |
Missense |
7/10 |
- |
1 |
7-44187327-TC-AG |
c.784_785delinsCT |
p.D262L |
Missense |
7/10 |
- |
1 |
7-44187327-TC-AT |
c.784_785delinsAT |
p.D262I |
Missense |
7/10 |
- |
1 |
7-44187327-TC-CA |
c.784_785delinsTG |
p.D262C |
Missense |
7/10 |
- |
1 |
7-44187327-TC-CG |
c.784_785delinsCG |
p.D262R |
Missense |
7/10 |
- |
1 |
7-44187327-TC-CT |
c.784_785delinsAG |
p.D262S |
Missense |
7/10 |
- |
1 |
7-44187327-TC-GG |
c.784_785delinsCC |
p.D262P |
Missense |
7/10 |
- |
1 |
7-44187327-TC-GT |
c.784_785delinsAC |
p.D262T |
Missense |
7/10 |
- |
1 |
7-44187327-T-G |
c.785A>C |
p.D262A |
Missense |
7/10 |
- |
1 |
7-44187328-C-A |
c.784G>T |
p.D262Y |
Missense |
7/10 |
- |
1 |
7-44187328-C-G |
c.784G>C |
p.D262H |
Missense |
7/10 |
- |
1 |
7-44187328-C-T |
c.784G>A |
p.D262N |
Missense |
7/10 |
- |
11 |
7-44187329-CCC-AAA |
c.781_783delinsTTT |
p.G261F |
Missense |
7/10 |
- |
1 |
7-44187329-CCC-ACA |
c.781_783delinsTGT |
p.G261C |
Missense |
7/10 |
- |
1 |
7-44187329-CCC-ATA |
c.781_783delinsTAT |
p.G261Y |
Missense |
7/10 |
- |
1 |
7-44187329-CCC-ATG |
c.781_783delinsCAT |
p.G261H |
Missense |
7/10 |
- |
1 |
7-44187329-CCC-GAT |
c.781_783delinsATC |
p.G261I |
Missense |
7/10 |
- |
1 |
7-44187329-CCC-GCT |
c.781_783delinsAGC |
p.G261S |
Missense |
7/10 |
- |
1 |
7-44187329-CCC-GTT |
c.781_783delinsAAC |
p.G261N |
Missense |
7/10 |
- |
1 |
7-44187329-CC-GT |
c.782_783delinsAC |
p.G261D |
Missense |
7/10 |
- |
1 |
7-44187330-C-A |
c.782G>T |
p.G261V |
Missense |
7/10 |
- |
1 |
7-44187330-CC-AG |
c.781_782delinsCT |
p.G261L |
Missense |
7/10 |
- |
1 |
7-44187330-CC-AT |
c.781_782delinsAT |
p.G261M |
Missense |
7/10 |
- |
1 |
7-44187330-CC-GG |
c.781_782inv |
p.G261P |
Missense |
7/10 |
- |
1 |
7-44187330-CC-GT |
c.781_782delinsAC |
p.G261T |
Missense |
7/10 |
- |
1 |
7-44187330-CC-TG |
c.781_782delinsCA |
p.G261Q |
Missense |
7/10 |
- |
1 |
7-44187330-CC-TT |
c.781_782delinsAA |
p.G261K |
Missense |
7/10 |
- |
1 |
7-44187330-C-G |
c.782G>C |
p.G261A |
Missense |
7/10 |
- |
2 |
7-44187330-C-T |
c.782G>A |
p.G261E |
Missense |
7/10 |
- |
5 |
7-44187327-TC-T |
c.784del |
p.D262Tfs*32 |
Frameshift |
7/10 |
- |
1 |
7-44187331-C-A |
c.781G>T |
p.G261W |
Missense |
7/10 |
- |
2 |
7-44187331-C-G |
c.781G>C |
p.G261R |
Missense |
7/10 |
- |
19 |
7-44187331-C-T |
c.781G>A |
p.G261R |
Missense |
7/10 |
- |
32 |
7-44187332-G-A |
c.780C>T |
p.F260= |
Synonymous |
7/10 |
- |
1 |
7-44187332-GAA-CAT |
c.778_780delinsATG |
p.F260M |
Missense |
7/10 |
- |
1 |
7-44187332-GAA-CTC |
c.778_780delinsGAG |
p.F260E |
Missense |
7/10 |
- |
1 |
7-44187332-GAA-CTT |
c.778_780delinsAAG |
p.F260K |
Missense |
7/10 |
- |
1 |
7-44187332-GAA-TTG |
c.778_780delinsCAA |
p.F260Q |
Missense |
7/10 |
- |
1 |
7-44187332-GA-CC |
c.779_780delinsGG |
p.F260W |
Missense |
7/10 |
- |
1 |
7-44187333-AA-CC |
c.778_779delinsGG |
p.F260G |
Missense |
7/10 |
- |
1 |
7-44187333-AA-CG |
c.778_779delinsCG |
p.F260R |
Missense |
7/10 |
- |
1 |
7-44187333-AA-GC |
c.778_779delinsGC |
p.F260A |
Missense |
7/10 |
- |
1 |
7-44187333-AA-GG |
c.778_779delinsCC |
p.F260P |
Missense |
7/10 |
- |
1 |
7-44187333-AA-GT |
c.778_779delinsAC |
p.F260T |
Missense |
7/10 |
- |
1 |
7-44187333-AA-TC |
c.778_779delinsGA |
p.F260D |
Missense |
7/10 |
- |
1 |
7-44187333-AA-TG |
c.778_779delinsCA |
p.F260H |
Missense |
7/10 |
- |
1 |
7-44187333-AA-TT |
c.778_779inv |
p.F260N |
Missense |
7/10 |
- |
1 |
7-44187333-A-C |
c.779T>G |
p.F260C |
Missense |
7/10 |
- |
1 |
7-44187333-A-G |
c.779T>C |
p.F260S |
Missense |
7/10 |
- |
5 |
7-44187333-A-T |
c.779T>A |
p.F260Y |
Missense |
7/10 |
- |
1 |
7-44187332-GA-G |
c.779del |
p.F260Sfs*34 |
Frameshift |
7/10 |
- |
1 |
7-44187332-G-C |
c.780C>G |
p.F260L |
Missense |
7/10 |
- |
2 |
7-44187332-G-T |
c.780C>A |
p.F260L |
Missense |
7/10 |
- |
2 |
7-44187334-A-C |
c.778T>G |
p.F260V |
Missense |
7/10 |
- |
4 |
7-44187334-A-G |
c.778T>C |
p.F260L |
Missense |
7/10 |
- |
2 |
7-44187334-A-T |
c.778T>A |
p.F260I |
Missense |
7/10 |
- |
1 |
7-44187335-GGC-CAT |
c.775_777delinsATG |
p.A259M |
Missense |
7/10 |
- |
1 |
7-44187335-GGC-CCA |
c.775_777delinsTGG |
p.A259W |
Missense |
7/10 |
- |
1 |
7-44187335-GGC-CTT |
c.775_777delinsAAG |
p.A259K |
Missense |
7/10 |
- |
1 |
7-44187335-GG-CT |
c.776_777delinsAG |
p.A259E |
Missense |
7/10 |
- |
1 |
7-44187335-GGC-TTG |
c.775_777delinsCAA |
p.A259Q |
Missense |
7/10 |
- |
1 |
7-44187336-G-A |
c.776C>T |
p.A259V |
Missense |
7/10 |
- |
4 |
7-44187336-G-C |
c.776C>G |
p.A259G |
Missense |
7/10 |
- |
1 |
7-44187336-GC-AA |
c.775_776delinsTT |
p.A259F |
Missense |
7/10 |
- |
1 |
7-44187336-GC-AG |
c.775_776delinsCT |
p.A259L |
Missense |
7/10 |
- |
1 |
7-44187336-GC-AT |
c.775_776delinsAT |
p.A259I |
Missense |
7/10 |
- |
1 |
7-44187336-GC-CA |
c.775_776delinsTG |
p.A259C |
Missense |
7/10 |
- |
1 |
7-44187336-GC-CG |
c.775_776delinsCG |
p.A259R |
Missense |
7/10 |
- |
1 |
7-44187336-GC-TA |
c.775_776delinsTA |
p.A259Y |
Missense |
7/10 |
- |
1 |
7-44187336-GC-TG |
c.775_776delinsCA |
p.A259H |
Missense |
7/10 |
- |
1 |
7-44187336-GC-TT |
c.775_776delinsAA |
p.A259N |
Missense |
7/10 |
- |
1 |
7-44187336-G-T |
c.776C>A |
p.A259D |
Missense |
7/10 |
- |
1 |
7-44187337-C-A |
c.775G>T |
p.A259S |
Missense |
7/10 |
- |
2 |
7-44187337-C-G |
c.775G>C |
p.A259P |
Missense |
7/10 |
- |
1 |
7-44187337-C-T |
c.775G>A |
p.A259T |
Missense |
7/10 |
- |
19 |
7-44187338-G-A |
c.774C>T |
p.G258= |
Synonymous |
7/10 |
- |
2 |
7-44187338-GCC-CAT |
c.772_774delinsATG |
p.G258M |
Missense |
7/10 |
- |
1 |
7-44187338-GCC-CCA |
c.772_774delinsTGG |
p.G258W |
Missense |
7/10 |
- |
1 |
7-44187338-GCC-CTT |
c.772_774delinsAAG |
p.G258K |
Missense |
7/10 |
- |
1 |
7-44187338-GC-CT |
c.773_774delinsAG |
p.G258E |
Missense |
7/10 |
- |
1 |
7-44187338-GCC-TTG |
c.772_774delinsCAA |
p.G258Q |
Missense |
7/10 |
- |
1 |
7-44187339-C-A |
c.773G>T |
p.G258V |
Missense |
7/10 |
- |
2 |
7-44187339-CC-AA |
c.772_773delinsTT |
p.G258F |
Missense |
7/10 |
- |
1 |
7-44187339-CC-AG |
c.772_773delinsCT |
p.G258L |
Missense |
7/10 |
- |
1 |
7-44187339-CC-AT |
c.772_773delinsAT |
p.G258I |
Missense |
7/10 |
- |
1 |
7-44187339-CC-GG |
c.772_773inv |
p.G258P |
Missense |
7/10 |
- |
1 |
7-44187339-CC-GT |
c.772_773delinsAC |
p.G258T |
Missense |
7/10 |
- |
1 |
7-44187339-CC-TA |
c.772_773delinsTA |
p.G258Y |
Missense |
7/10 |
- |
1 |
7-44187339-CC-TG |
c.772_773delinsCA |
p.G258H |
Missense |
7/10 |
- |
1 |
7-44187339-CC-TT |
c.772_773delinsAA |
p.G258N |
Missense |
7/10 |
- |
1 |
7-44187339-C-G |
c.773G>C |
p.G258A |
Missense |
7/10 |
- |
1 |
7-44187339-C-T |
c.773G>A |
p.G258D |
Missense |
7/10 |
- |
5 |
7-44187340-C-A |
c.772G>T |
p.G258C |
Missense |
7/10 |
- |
9 |
7-44187340-C-G |
c.772G>C |
p.G258R |
Missense |
7/10 |
- |
4 |
7-44187340-C-T |
c.772G>A |
p.G258S |
Missense |
7/10 |
- |
6 |
7-44187341-C-A |
c.771G>T |
p.W257C |
Missense |
7/10 |
- |
1 |
7-44187341-CC-AA |
c.770_771delinsTT |
p.W257F |
Missense |
7/10 |
- |
5 |
7-44187341-CCA-ATG |
c.769_771delinsCAT |
p.W257H |
Missense |
7/10 |
- |
1 |
7-44187341-CCA-GAT |
c.769_771delinsATC |
p.W257I |
Missense |
7/10 |
- |
1 |
7-44187341-CCA-GTC |
c.769_771delinsGAC |
p.W257D |
Missense |
7/10 |
- |
1 |
7-44187341-CCA-GTT |
c.769_771delinsAAC |
p.W257N |
Missense |
7/10 |
- |
1 |
7-44187341-CC-AT |
c.770_771delinsAT |
p.W257Y |
Missense |
7/10 |
- |
1 |
7-44187341-C-G |
c.771G>C |
p.W257C |
Missense |
7/10 |
- |
2 |
7-44187341-C-T |
c.771G>A |
p.W257* |
Nonsense |
7/10 |
- |
3 |
7-44187342-C-A |
c.770G>T |
p.W257L |
Missense |
7/10 |
- |
2 |
7-44187342-CA-AC |
c.769_770delinsGT |
p.W257V |
Missense |
7/10 |
- |
1 |
7-44187342-CA-AT |
c.769_770delinsAT |
p.W257M |
Missense |
7/10 |
- |
1 |
7-44187342-CA-GC |
c.769_770delinsGC |
p.W257A |
Missense |
7/10 |
- |
1 |
7-44187342-CA-GG |
c.769_770delinsCC |
p.W257P |
Missense |
7/10 |
- |
1 |
7-44187342-CA-GT |
c.769_770delinsAC |
p.W257T |
Missense |
7/10 |
- |
2 |
7-44187342-CA-TC |
c.769_770delinsGA |
p.W257E |
Missense |
7/10 |
- |
1 |
7-44187342-CA-TG |
c.769_770inv |
p.W257Q |
Missense |
7/10 |
- |
1 |
7-44187342-CA-TT |
c.769_770delinsAA |
p.W257K |
Missense |
7/10 |
- |
1 |
7-44187342-C-G |
c.770G>C |
p.W257S |
Missense |
7/10 |
- |
2 |
7-44187342-C-T |
c.770G>A |
p.W257* |
Nonsense |
7/10 |
- |
1 |
7-44187342-C-CA |
c.769dup |
p.W257Lfs*18 |
Frameshift |
7/10 |
- |
1 |
7-44187343-A-C |
c.769T>G |
p.W257G |
Missense |
7/10 |
- |
1 |
7-44187343-A-G |
c.769T>C |
p.W257R |
Missense |
7/10 |
- |
9 |
7-44187343-A-T |
c.769T>A |
p.W257R |
Missense |
7/10 |
- |
7 |
7-44187344-C-A |
c.768G>T |
p.E256D |
Missense |
7/10 |
- |
2 |
7-44187344-C-G |
c.768G>C |
p.E256D |
Missense |
7/10 |
- |
5 |
7-44187344-CTC-AAA |
c.766_768delinsTTT |
p.E256F |
Missense |
7/10 |
- |
1 |
7-44187344-CTC-ACA |
c.766_768delinsTGT |
p.E256C |
Missense |
7/10 |
- |
1 |
7-44187344-CTC-ATA |
c.766_768delinsTAT |
p.E256Y |
Missense |
7/10 |
- |
1 |
7-44187344-CTC-ATG |
c.766_768delinsCAT |
p.E256H |
Missense |
7/10 |
- |
1 |
7-44187344-CTC-GAT |
c.766_768delinsATC |
p.E256I |
Missense |
7/10 |
- |
1 |
7-44187344-CTC-GTT |
c.766_768delinsAAC |
p.E256N |
Missense |
7/10 |
- |
1 |
7-44187345-T-A |
c.767A>T |
p.E256V |
Missense |
7/10 |
- |
1 |
7-44187345-T-C |
c.767A>G |
p.E256G |
Missense |
7/10 |
- |
1 |
7-44187345-TC-AG |
c.766_767delinsCT |
p.E256L |
Missense |
7/10 |
- |
1 |
7-44187345-TC-AT |
c.766_767delinsAT |
p.E256M |
Missense |
7/10 |
- |
1 |
7-44187345-TC-CA |
c.766_767delinsTG |
p.E256W |
Missense |
7/10 |
- |
1 |
7-44187345-TC-CT |
c.766_767delinsAG |
p.E256R |
Missense |
7/10 |
- |
1 |
7-44187345-TC-GA |
c.766_767inv |
p.E256S |
Missense |
7/10 |
- |
1 |
7-44187345-TC-GG |
c.766_767delinsCC |
p.E256P |
Missense |
7/10 |
- |
1 |
7-44187345-TC-GT |
c.766_767delinsAC |
p.E256T |
Missense |
7/10 |
- |
1 |
7-44187345-T-G |
c.767A>C |
p.E256A |
Missense |
7/10 |
- |
4 |
7-44187346-C-A |
c.766G>T |
p.E256* |
Nonsense |
7/10 |
- |
1 |
7-44187346-C-G |
c.766G>C |
p.E256Q |
Missense |
7/10 |
- |
4 |
7-44187346-C-T |
c.766G>A |
p.E256K |
Missense |
7/10 |
- |
25 |
7-44187347-GG-CA |
c.764_765delinsTG |
p.T255M |
Missense |
7/10 |
- |
1 |
7-44187347-GG-CC |
c.764_765inv |
p.T255R |
Missense |
7/10 |
- |
1 |
7-44187347-GG-CT |
c.764_765delinsAG |
p.T255K |
Missense |
7/10 |
- |
1 |
7-44187347-GGT-CCA |
c.763_765delinsTGG |
p.T255W |
Missense |
7/10 |
- |
1 |
7-44187347-GGT-CTC |
c.763_765delinsGAG |
p.T255E |
Missense |
7/10 |
- |
1 |
7-44187347-GGT-TTG |
c.763_765delinsCAA |
p.T255Q |
Missense |
7/10 |
- |
1 |
7-44187348-G-A |
c.764C>T |
p.T255I |
Missense |
7/10 |
- |
3 |
7-44187348-G-C |
c.764C>G |
p.T255S |
Missense |
7/10 |
- |
5 |
7-44187348-G-T |
c.764C>A |
p.T255N |
Missense |
7/10 |
- |
2 |
7-44187348-GT-AA |
c.763_764delinsTT |
p.T255F |
Missense |
7/10 |
- |
1 |
7-44187348-GT-AC |
c.763_764inv |
p.T255V |
Missense |
7/10 |
- |
1 |
7-44187348-GT-AG |
c.763_764delinsCT |
p.T255L |
Missense |
7/10 |
- |
1 |
7-44187348-GT-CA |
c.763_764delinsTG |
p.T255C |
Missense |
7/10 |
- |
1 |
7-44187348-GT-CC |
c.763_764delinsGG |
p.T255G |
Missense |
7/10 |
- |
1 |
7-44187348-GT-TA |
c.763_764delinsTA |
p.T255Y |
Missense |
7/10 |
- |
1 |
7-44187348-GT-TC |
c.763_764delinsGA |
p.T255D |
Missense |
7/10 |
- |
1 |
7-44187348-GT-TG |
c.763_764delinsCA |
p.T255H |
Missense |
7/10 |
- |
1 |
7-44187349-T-A |
c.763A>T |
p.T255S |
Missense |
7/10 |
- |
3 |
7-44187349-T-C |
c.763A>G |
p.T255A |
Missense |
7/10 |
- |
2 |
7-44187349-T-G |
c.763A>C |
p.T255P |
Missense |
7/10 |
- |
1 |
7-44187350-A-C |
c.762T>G |
p.N254K |
Missense |
7/10 |
- |
2 |
7-44187350-A-T |
c.762T>A |
p.N254K |
Missense |
7/10 |
- |
2 |
7-44187350-AT-CA |
c.761_762delinsTG |
p.N254M |
Missense |
7/10 |
- |
1 |
7-44187350-AT-CC |
c.761_762delinsGG |
p.N254R |
Missense |
7/10 |
- |
1 |
7-44187350-ATT-CCA |
c.760_762delinsTGG |
p.N254W |
Missense |
7/10 |
- |
1 |
7-44187350-ATT-CTC |
c.760_762delinsGAG |
p.N254E |
Missense |
7/10 |
- |
1 |
7-44187350-ATT-TTG |
c.760_762delinsCAA |
p.N254Q |
Missense |
7/10 |
- |
1 |
7-44187351-T-A |
c.761A>T |
p.N254I |
Missense |
7/10 |
- |
1 |
7-44187351-T-C |
c.761A>G |
p.N254S |
Missense |
7/10 |
- |
3 |
7-44187351-T-G |
c.761A>C |
p.N254T |
Missense |
7/10 |
- |
1 |
7-44187351-TT-AA |
c.760_761inv |
p.N254F |
Missense |
7/10 |
- |
1 |
7-44187351-TT-AC |
c.760_761delinsGT |
p.N254V |
Missense |
7/10 |
- |
1 |
7-44187351-TT-AG |
c.760_761delinsCT |
p.N254L |
Missense |
7/10 |
- |
1 |
7-44187351-TT-CA |
c.760_761delinsTG |
p.N254C |
Missense |
7/10 |
- |
1 |
7-44187351-TT-CC |
c.760_761delinsGG |
p.N254G |
Missense |
7/10 |
- |
1 |
7-44187351-TT-GC |
c.760_761delinsGC |
p.N254A |
Missense |
7/10 |
- |
1 |
7-44187351-TT-GG |
c.760_761delinsCC |
p.N254P |
Missense |
7/10 |
- |
1 |
7-44187352-T-A |
c.760A>T |
p.N254Y |
Missense |
7/10 |
- |
1 |
7-44187352-T-C |
c.760A>G |
p.N254D |
Missense |
7/10 |
- |
2 |
7-44187352-T-G |
c.760A>C |
p.N254H |
Missense |
7/10 |
- |
7 |
7-44187353-GAC-CAT |
c.757_759delinsATG |
p.V253M |
Missense |
7/10 |
- |
1 |
7-44187353-GAC-CCA |
c.757_759delinsTGG |
p.V253W |
Missense |
7/10 |
- |
1 |
7-44187353-GAC-CTT |
c.757_759delinsAAG |
p.V253K |
Missense |
7/10 |
- |
1 |
7-44187353-GA-CT |
c.758_759delinsAG |
p.V253E |
Missense |
7/10 |
- |
1 |
7-44187353-GAC-TTG |
c.757_759delinsCAA |
p.V253Q |
Missense |
7/10 |
- |
1 |
7-44187354-A-C |
c.758T>G |
p.V253G |
Missense |
7/10 |
- |
4 |
7-44187354-AC-CA |
c.757_758delinsTG |
p.V253C |
Missense |
7/10 |
- |
1 |
7-44187354-AC-CG |
c.757_758delinsCG |
p.V253R |
Missense |
7/10 |
- |
1 |
7-44187354-AC-CT |
c.757_758delinsAG |
p.V253S |
Missense |
7/10 |
- |
1 |
7-44187354-AC-GG |
c.757_758delinsCC |
p.V253P |
Missense |
7/10 |
- |
1 |
7-44187354-AC-GT |
c.757_758inv |
p.V253T |
Missense |
7/10 |
- |
1 |
7-44187354-AC-TA |
c.757_758delinsTA |
p.V253Y |
Missense |
7/10 |
- |
1 |
7-44187354-AC-TG |
c.757_758delinsCA |
p.V253H |
Missense |
7/10 |
- |
1 |
7-44187354-AC-TT |
c.757_758delinsAA |
p.V253N |
Missense |
7/10 |
- |
1 |
7-44187354-A-G |
c.758T>C |
p.V253A |
Missense |
7/10 |
- |
5 |
7-44187354-A-T |
c.758T>A |
p.V253D |
Missense |
7/10 |
- |
1 |
7-44187355-AC-A |
c.757del |
p.V253Sfs*41 |
Frameshift |
7/10 |
- |
2 |
7-44187355-C-A |
c.757G>T |
p.V253F |
Missense |
7/10 |
- |
6 |
7-44187355-C-G |
c.757G>C |
p.V253L |
Missense |
7/10 |
- |
3 |
7-44187355-C-T |
c.757G>A |
p.V253I |
Missense |
7/10 |
- |
8 |
7-44187356-G-C |
c.756C>G |
p.C252W |
Missense |
7/10 |
- |
3 |
7-44187356-GCA-CAT |
c.754_756delinsATG |
p.C252M |
Missense |
7/10 |
- |
1 |
7-44187356-GCA-CTC |
c.754_756delinsGAG |
p.C252E |
Missense |
7/10 |
- |
1 |
7-44187356-GCA-CTT |
c.754_756delinsAAG |
p.C252K |
Missense |
7/10 |
- |
1 |
7-44187356-GCA-TTG |
c.754_756delinsCAA |
p.C252Q |
Missense |
7/10 |
- |
1 |
7-44187357-C-A |
c.755G>T |
p.C252F |
Missense |
7/10 |
- |
2 |
7-44187357-CA-AC |
c.754_755delinsGT |
p.C252V |
Missense |
7/10 |
- |
1 |
7-44187357-CA-AG |
c.754_755delinsCT |
p.C252L |
Missense |
7/10 |
- |
1 |
7-44187357-CA-AT |
c.754_755delinsAT |
p.C252I |
Missense |
7/10 |
- |
1 |
7-44187357-CA-GC |
c.754_755delinsGC |
p.C252A |
Missense |
7/10 |
- |
1 |
7-44187357-CA-GG |
c.754_755delinsCC |
p.C252P |
Missense |
7/10 |
- |
1 |
7-44187357-CA-GT |
c.754_755delinsAC |
p.C252T |
Missense |
7/10 |
- |
1 |
7-44187357-CA-TC |
c.754_755delinsGA |
p.C252D |
Missense |
7/10 |
- |
1 |
7-44187357-CA-TG |
c.754_755inv |
p.C252H |
Missense |
7/10 |
- |
1 |
7-44187357-CA-TT |
c.754_755delinsAA |
p.C252N |
Missense |
7/10 |
- |
1 |
7-44187357-C-T |
c.755G>A |
p.C252Y |
Missense |
7/10 |
- |
6 |
7-44187357-C-G |
c.755G>C |
p.C252S |
Missense |
7/10 |
- |
1 |
7-44187358-A-C |
c.754T>G |
p.C252G |
Missense |
7/10 |
- |
3 |
7-44187358-A-G |
c.754T>C |
p.C252R |
Missense |
7/10 |
- |
4 |
7-44187358-A-T |
c.754T>A |
p.C252S |
Missense |
7/10 |
- |
1 |
7-44187359-C-A |
c.753G>T |
p.M251I |
Missense |
7/10 |
- |
3 |
7-44187359-CA-GC |
c.752_753delinsGC |
p.M251S |
Missense |
7/10 |
- |
1 |
7-44187359-CA-GT |
c.752_753delinsAC |
p.M251N |
Missense |
7/10 |
- |
1 |
7-44187359-CAT-AAA |
c.751_753delinsTTT |
p.M251F |
Missense |
7/10 |
- |
1 |
7-44187359-CAT-ACA |
c.751_753delinsTGT |
p.M251C |
Missense |
7/10 |
- |
2 |
7-44187359-CAT-ATA |
c.751_753delinsTAT |
p.M251Y |
Missense |
7/10 |
- |
1 |
7-44187359-CAT-ATG |
c.751_753inv |
p.M251H |
Missense |
7/10 |
- |
1 |
7-44187359-CAT-GTC |
c.751_753delinsGAC |
p.M251D |
Missense |
7/10 |
- |
1 |
7-44187359-C-G |
c.753G>C |
p.M251I |
Missense |
7/10 |
- |
3 |
7-44187359-C-T |
c.753G>A |
p.M251I |
Missense |
7/10 |
- |
3 |
7-44187360-A-C |
c.752T>G |
p.M251R |
Missense |
7/10 |
- |
4 |
7-44187360-A-G |
c.752T>C |
p.M251T |
Missense |
7/10 |
- |
6 |
7-44187360-A-T |
c.752T>A |
p.M251K |
Missense |
7/10 |
- |
2 |
7-44187360-AT-CA |
c.751_752delinsTG |
p.M251W |
Missense |
7/10 |
- |
1 |
7-44187360-AT-CC |
c.751_752delinsGG |
p.M251G |
Missense |
7/10 |
- |
1 |
7-44187360-AT-GC |
c.751_752delinsGC |
p.M251A |
Missense |
7/10 |
- |
1 |
7-44187360-AT-GG |
c.751_752delinsCC |
p.M251P |
Missense |
7/10 |
- |
1 |
7-44187360-AT-TC |
c.751_752delinsGA |
p.M251E |
Missense |
7/10 |
- |
1 |
7-44187360-AT-TG |
c.751_752delinsCA |
p.M251Q |
Missense |
7/10 |
- |
1 |
7-44187361-T-A |
c.751A>T |
p.M251L |
Missense |
7/10 |
- |
2 |
7-44187361-T-C |
c.751A>G |
p.M251V |
Missense |
7/10 |
- |
4 |
7-44187361-T-G |
c.751A>C |
p.M251L |
Missense |
7/10 |
- |
3 |
7-44187362-G-A |
c.750C>T |
p.R250= |
Synonymous |
7/10 |
- |
1 |
7-44187362-G-C |
c.750C>G |
p.R250= |
Synonymous |
7/10 |
- |
1 |
7-44187362-GCG-CAT |
c.748_750delinsATG |
p.R250M |
Missense |
7/10 |
- |
1 |
7-44187362-GCG-CCA |
c.748_750delinsTGG |
p.R250W |
Missense |
7/10 |
- |
1 |
7-44187362-GCG-CTC |
c.748_750delinsGAG |
p.R250E |
Missense |
7/10 |
- |
1 |
7-44187362-GCG-CTT |
c.748_750delinsAAG |
p.R250K |
Missense |
7/10 |
- |
1 |
7-44187362-GC-TT |
c.749_750delinsAA |
p.R250Q |
Missense |
7/10 |
- |
1 |
7-44187362-G-T |
c.750C>A |
p.R250= |
Synonymous |
7/10 |
- |
1 |
7-44187363-C-A |
c.749G>T |
p.R250L |
Missense |
7/10 |
- |
1 |
7-44187363-C-G |
c.749G>C |
p.R250P |
Missense |
7/10 |
- |
2 |
7-44187363-CG-AA |
c.748_749delinsTT |
p.R250F |
Missense |
7/10 |
- |
1 |
7-44187363-CG-AC |
c.748_749delinsGT |
p.R250V |
Missense |
7/10 |
- |
1 |
7-44187363-CG-AT |
c.748_749delinsAT |
p.R250I |
Missense |
7/10 |
- |
1 |
7-44187363-CG-GC |
c.748_749delinsGC |
p.R250A |
Missense |
7/10 |
- |
1 |
7-44187363-CG-GT |
c.748_749delinsAC |
p.R250T |
Missense |
7/10 |
- |
1 |
7-44187363-CG-TA |
c.748_749delinsTA |
p.R250Y |
Missense |
7/10 |
- |
1 |
7-44187363-CG-TC |
c.748_749delinsGA |
p.R250D |
Missense |
7/10 |
- |
1 |
7-44187363-CG-TT |
c.748_749delinsAA |
p.R250N |
Missense |
7/10 |
- |
1 |
7-44187363-C-T |
c.749G>A |
p.R250H |
Missense |
7/10 |
- |
6 |
7-44187364-G-A |
c.748C>T |
p.R250C |
Missense |
7/10 |
- |
9 |
7-44187364-G-C |
c.748C>G |
p.R250G |
Missense |
7/10 |
- |
1 |
7-44187364-G-T |
c.748C>A |
p.R250S |
Missense |
7/10 |
- |
1 |
7-44187365-GCC-CAT |
c.745_747delinsATG |
p.G249M |
Missense |
7/10 |
- |
1 |
7-44187365-GCC-CCA |
c.745_747delinsTGG |
p.G249W |
Missense |
7/10 |
- |
1 |
7-44187365-GCC-CTT |
c.745_747delinsAAG |
p.G249K |
Missense |
7/10 |
- |
1 |
7-44187365-GC-CT |
c.746_747delinsAG |
p.G249E |
Missense |
7/10 |
- |
1 |
7-44187365-GCC-TTG |
c.745_747delinsCAA |
p.G249Q |
Missense |
7/10 |
- |
1 |
7-44187366-C-A |
c.746G>T |
p.G249V |
Missense |
7/10 |
- |
1 |
7-44187366-CC-AA |
c.745_746delinsTT |
p.G249F |
Missense |
7/10 |
- |
1 |
7-44187366-CC-AG |
c.745_746delinsCT |
p.G249L |
Missense |
7/10 |
- |
1 |
7-44187366-CC-AT |
c.745_746delinsAT |
p.G249I |
Missense |
7/10 |
- |
1 |
7-44187366-CC-GG |
c.745_746inv |
p.G249P |
Missense |
7/10 |
- |
1 |
7-44187366-CC-GT |
c.745_746delinsAC |
p.G249T |
Missense |
7/10 |
- |
1 |
7-44187366-CC-TA |
c.745_746delinsTA |
p.G249Y |
Missense |
7/10 |
- |
1 |
7-44187366-CC-TG |
c.745_746delinsCA |
p.G249H |
Missense |
7/10 |
- |
1 |
7-44187366-CC-TT |
c.745_746delinsAA |
p.G249N |
Missense |
7/10 |
- |
1 |
7-44187366-C-G |
c.746G>C |
p.G249A |
Missense |
7/10 |
- |
1 |
7-44187366-C-T |
c.746G>A |
p.G249D |
Missense |
7/10 |
- |
2 |
7-44187367-C-A |
c.745G>T |
p.G249C |
Missense |
7/10 |
- |
2 |
7-44187367-C-G |
c.745G>C |
p.G249R |
Missense |
7/10 |
- |
1 |
7-44187367-C-T |
c.745G>A |
p.G249S |
Missense |
7/10 |
- |
2 |
7-44187368-C-A |
c.744G>T |
p.E248D |
Missense |
7/10 |
- |
1 |
7-44187368-C-G |
c.744G>C |
p.E248D |
Missense |
7/10 |
- |
1 |
7-44187368-CTC-AAA |
c.742_744delinsTTT |
p.E248F |
Missense |
7/10 |
- |
1 |
7-44187368-CTC-ACA |
c.742_744delinsTGT |
p.E248C |
Missense |
7/10 |
- |
1 |
7-44187368-CTC-ATA |
c.742_744delinsTAT |
p.E248Y |
Missense |
7/10 |
- |
1 |
7-44187368-CTC-ATG |
c.742_744delinsCAT |
p.E248H |
Missense |
7/10 |
- |
1 |
7-44187368-CTC-GAT |
c.742_744delinsATC |
p.E248I |
Missense |
7/10 |
- |
1 |
7-44187368-CTC-GTT |
c.742_744delinsAAC |
p.E248N |
Missense |
7/10 |
- |
1 |
7-44187369-CT-C |
c.743del |
p.E248Gfs*46 |
Frameshift |
7/10 |
- |
1 |
7-44187369-T-A |
c.743A>T |
p.E248V |
Missense |
7/10 |
- |
1 |
7-44187369-T-C |
c.743A>G |
p.E248G |
Missense |
7/10 |
- |
1 |
7-44187369-TC-AG |
c.742_743delinsCT |
p.E248L |
Missense |
7/10 |
- |
1 |
7-44187369-TC-AT |
c.742_743delinsAT |
p.E248M |
Missense |
7/10 |
- |
1 |
7-44187369-TC-CA |
c.742_743delinsTG |
p.E248W |
Missense |
7/10 |
- |
1 |
7-44187369-TC-CT |
c.742_743delinsAG |
p.E248R |
Missense |
7/10 |
- |
1 |
7-44187369-TC-GA |
c.742_743inv |
p.E248S |
Missense |
7/10 |
- |
1 |
7-44187369-TC-GG |
c.742_743delinsCC |
p.E248P |
Missense |
7/10 |
- |
1 |
7-44187369-TC-GT |
c.742_743delinsAC |
p.E248T |
Missense |
7/10 |
- |
1 |
7-44187369-T-G |
c.743A>C |
p.E248A |
Missense |
7/10 |
- |
1 |
7-44187370-C-G |
c.742G>C |
p.E248Q |
Missense |
7/10 |
- |
1 |
7-44187370-C-T |
c.742G>A |
p.E248K |
Missense |
7/10 |
- |
6 |
7-44187371-G-C |
c.741C>G |
p.D247E |
Missense |
7/10 |
- |
1 |
7-44187371-G-T |
c.741C>A |
p.D247E |
Missense |
7/10 |
- |
1 |
7-44187371-GTC-CAT |
c.739_741delinsATG |
p.D247M |
Missense |
7/10 |
- |
1 |
7-44187371-GTC-CCA |
c.739_741delinsTGG |
p.D247W |
Missense |
7/10 |
- |
1 |
7-44187371-GTC-CTT |
c.739_741delinsAAG |
p.D247K |
Missense |
7/10 |
- |
1 |
7-44187371-GTC-TTG |
c.739_741delinsCAA |
p.D247Q |
Missense |
7/10 |
- |
1 |
7-44187372-T-A |
c.740A>T |
p.D247V |
Missense |
7/10 |
- |
1 |
7-44187372-T-C |
c.740A>G |
p.D247G |
Missense |
7/10 |
- |
1 |
7-44187372-TC-AA |
c.739_740delinsTT |
p.D247F |
Missense |
7/10 |
- |
1 |
7-44187372-TC-AG |
c.739_740delinsCT |
p.D247L |
Missense |
7/10 |
- |
1 |
7-44187372-TC-AT |
c.739_740delinsAT |
p.D247I |
Missense |
7/10 |
- |
1 |
7-44187372-TC-CA |
c.739_740delinsTG |
p.D247C |
Missense |
7/10 |
- |
1 |
7-44187372-TC-CG |
c.739_740delinsCG |
p.D247R |
Missense |
7/10 |
- |
1 |
7-44187372-TC-CT |
c.739_740delinsAG |
p.D247S |
Missense |
7/10 |
- |
1 |
7-44187372-TC-GG |
c.739_740delinsCC |
p.D247P |
Missense |
7/10 |
- |
1 |
7-44187372-TC-GT |
c.739_740delinsAC |
p.D247T |
Missense |
7/10 |
- |
1 |
7-44187372-T-G |
c.740A>C |
p.D247A |
Missense |
7/10 |
- |
2 |
7-44187373-C-A |
c.739G>T |
p.D247Y |
Missense |
7/10 |
- |
1 |
7-44187373-C-G |
c.739G>C |
p.D247H |
Missense |
7/10 |
- |
1 |
7-44187373-C-T |
c.739G>A |
p.D247N |
Missense |
7/10 |
- |
1 |
7-44187374-C-A |
c.738G>T |
p.G246= |
Synonymous |
7/10 |
- |
1 |
7-44187374-CCC-AAA |
c.736_738delinsTTT |
p.G246F |
Missense |
7/10 |
- |
1 |
7-44187374-CCC-ACA |
c.736_738delinsTGT |
p.G246C |
Missense |
7/10 |
- |
1 |
7-44187374-CCC-ATA |
c.736_738delinsTAT |
p.G246Y |
Missense |
7/10 |
- |
1 |
7-44187374-CCC-ATG |
c.736_738delinsCAT |
p.G246H |
Missense |
7/10 |
- |
1 |
7-44187374-CCC-GAT |
c.736_738delinsATC |
p.G246I |
Missense |
7/10 |
- |
1 |
7-44187374-CCC-GCT |
c.736_738delinsAGC |
p.G246S |
Missense |
7/10 |
- |
1 |
7-44187374-CCC-GTT |
c.736_738delinsAAC |
p.G246N |
Missense |
7/10 |
- |
1 |
7-44187374-CC-GT |
c.737_738delinsAC |
p.G246D |
Missense |
7/10 |
- |
1 |
7-44187374-C-G |
c.738G>C |
p.G246= |
Synonymous |
7/10 |
- |
1 |
7-44187374-C-T |
c.738G>A |
p.G246= |
Synonymous |
7/10 |
- |
3 |
7-44187375-C-A |
c.737G>T |
p.G246V |
Missense |
7/10 |
- |
1 |
7-44187375-CC-AG |
c.736_737delinsCT |
p.G246L |
Missense |
7/10 |
- |
1 |
7-44187375-CC-AT |
c.736_737delinsAT |
p.G246M |
Missense |
7/10 |
- |
1 |
7-44187375-CC-GG |
c.736_737inv |
p.G246P |
Missense |
7/10 |
- |
1 |
7-44187375-CC-GT |
c.736_737delinsAC |
p.G246T |
Missense |
7/10 |
- |
1 |
7-44187375-CC-TG |
c.736_737delinsCA |
p.G246Q |
Missense |
7/10 |
- |
1 |
7-44187375-CC-TT |
c.736_737delinsAA |
p.G246K |
Missense |
7/10 |
- |
1 |
7-44187375-C-G |
c.737G>C |
p.G246A |
Missense |
7/10 |
- |
5 |
7-44187375-C-T |
c.737G>A |
p.G246E |
Missense |
7/10 |
- |
1 |
7-44187376-C-A |
c.736G>T |
p.G246W |
Missense |
7/10 |
- |
1 |
7-44187376-C-G |
c.736G>C |
p.G246R |
Missense |
7/10 |
- |
2 |
7-44187376-C-T |
c.736G>A |
p.G246R |
Missense |
7/10 |
- |
5 |
7-44187372-TC-T |
c.739del |
p.D247Tfs*47 |
Frameshift |
7/10 |
- |
2 |
7-44187377-C-A |
c.735G>T |
p.E245D |
Missense |
7/10 |
- |
1 |
7-44187377-C-G |
c.735G>C |
p.E245D |
Missense |
7/10 |
- |
1 |
7-44187377-CTC-AAA |
c.733_735delinsTTT |
p.E245F |
Missense |
7/10 |
- |
1 |
7-44187377-CTC-ACA |
c.733_735delinsTGT |
p.E245C |
Missense |
7/10 |
- |
1 |
7-44187377-CTC-ATA |
c.733_735delinsTAT |
p.E245Y |
Missense |
7/10 |
- |
1 |
7-44187377-CTC-ATG |
c.733_735delinsCAT |
p.E245H |
Missense |
7/10 |
- |
1 |
7-44187377-CTC-GAT |
c.733_735delinsATC |
p.E245I |
Missense |
7/10 |
- |
1 |
7-44187377-CTC-GTT |
c.733_735delinsAAC |
p.E245N |
Missense |
7/10 |
- |
1 |
7-44187378-T-A |
c.734A>T |
p.E245V |
Missense |
7/10 |
- |
1 |
7-44187378-T-C |
c.734A>G |
p.E245G |
Missense |
7/10 |
- |
1 |
7-44187378-TC-AG |
c.733_734delinsCT |
p.E245L |
Missense |
7/10 |
- |
1 |
7-44187378-TC-AT |
c.733_734delinsAT |
p.E245M |
Missense |
7/10 |
- |
1 |
7-44187378-TC-CA |
c.733_734delinsTG |
p.E245W |
Missense |
7/10 |
- |
1 |
7-44187378-TC-CT |
c.733_734delinsAG |
p.E245R |
Missense |
7/10 |
- |
1 |
7-44187378-TC-GA |
c.733_734inv |
p.E245S |
Missense |
7/10 |
- |
1 |
7-44187378-TC-GG |
c.733_734delinsCC |
p.E245P |
Missense |
7/10 |
- |
1 |
7-44187378-TC-GT |
c.733_734delinsAC |
p.E245T |
Missense |
7/10 |
- |
1 |
7-44187378-T-G |
c.734A>C |
p.E245A |
Missense |
7/10 |
- |
2 |
7-44187379-C-G |
c.733G>C |
p.E245Q |
Missense |
7/10 |
- |
1 |
7-44187379-C-T |
c.733G>A |
p.E245K |
Missense |
7/10 |
- |
1 |
7-44187378-TC-T |
c.733del |
p.E245Rfs*49 |
Frameshift |
7/10 |
- |
1 |
7-44187380-CAC-AAA |
c.730_732delinsTTT |
p.V244F |
Missense |
7/10 |
- |
1 |
7-44187380-CAC-ACA |
c.730_732delinsTGT |
p.V244C |
Missense |
7/10 |
- |
1 |
7-44187380-CAC-ATA |
c.730_732delinsTAT |
p.V244Y |
Missense |
7/10 |
- |
1 |
7-44187380-CAC-ATG |
c.730_732delinsCAT |
p.V244H |
Missense |
7/10 |
- |
1 |
7-44187380-CAC-GAT |
c.730_732delinsATC |
p.V244I |
Missense |
7/10 |
- |
1 |
7-44187380-CAC-GTT |
c.730_732delinsAAC |
p.V244N |
Missense |
7/10 |
- |
1 |
7-44187380-CA-GT |
c.731_732delinsAC |
p.V244D |
Missense |
7/10 |
- |
1 |
7-44187381-A-C |
c.731T>G |
p.V244G |
Missense |
7/10 |
- |
3 |
7-44187381-AC-CA |
c.730_731delinsTG |
p.V244W |
Missense |
7/10 |
- |
1 |
7-44187381-AC-CT |
c.730_731delinsAG |
p.V244R |
Missense |
7/10 |
- |
1 |
7-44187381-AC-GA |
c.730_731delinsTC |
p.V244S |
Missense |
7/10 |
- |
1 |
7-44187381-AC-GG |
c.730_731delinsCC |
p.V244P |
Missense |
7/10 |
- |
1 |
7-44187381-AC-GT |
c.730_731inv |
p.V244T |
Missense |
7/10 |
- |
1 |
7-44187381-AC-TG |
c.730_731delinsCA |
p.V244Q |
Missense |
7/10 |
- |
1 |
7-44187381-AC-TT |
c.730_731delinsAA |
p.V244K |
Missense |
7/10 |
- |
1 |
7-44187381-A-G |
c.731T>C |
p.V244A |
Missense |
7/10 |
- |
1 |
7-44187381-A-T |
c.731T>A |
p.V244E |
Missense |
7/10 |
- |
2 |
7-44187381-CA-C |
c.731del |
p.V244Gfs*50 |
Frameshift |
7/10 |
- |
1 |
7-44187382-C-A |
c.730G>T |
p.V244L |
Missense |
7/10 |
- |
2 |
7-44187382-C-G |
c.730G>C |
p.V244L |
Missense |
7/10 |
- |
2 |
7-44187382-C-T |
c.730G>A |
p.V244M |
Missense |
7/10 |
- |
2 |
7-44187381-AC-A |
c.730del |
p.V244Wfs*50 |
Frameshift |
7/10 |
- |
1 |
7-44187383-C-A |
c.729G>T |
p.L243= |
Synonymous |
7/10 |
- |
2 |
7-44187383-CA-AT |
c.728_729delinsAT |
p.L243H |
Missense |
7/10 |
- |
1 |
7-44187383-CAG-AAA |
c.727_729delinsTTT |
p.L243F |
Missense |
7/10 |
- |
1 |
7-44187383-CAG-ACA |
c.727_729delinsTGT |
p.L243C |
Missense |
7/10 |
- |
1 |
7-44187383-CAG-ATA |
c.727_729delinsTAT |
p.L243Y |
Missense |
7/10 |
- |
1 |
7-44187383-CAG-GAT |
c.727_729delinsATC |
p.L243I |
Missense |
7/10 |
- |
1 |
7-44187383-CAG-GTC |
c.727_729delinsGAC |
p.L243D |
Missense |
7/10 |
- |
1 |
7-44187383-CAG-GTT |
c.727_729delinsAAC |
p.L243N |
Missense |
7/10 |
- |
1 |
7-44187383-C-G |
c.729G>C |
p.L243= |
Synonymous |
7/10 |
- |
2 |
7-44187383-C-T |
c.729G>A |
p.L243= |
Synonymous |
7/10 |
- |
2 |
7-44187385-G-A |
c.727C>T |
p.L243= |
Synonymous |
7/10 |
- |
2 |
7-44187384-A-C |
c.728T>G |
p.L243R |
Missense |
7/10 |
- |
1 |
7-44187384-A-G |
c.728T>C |
p.L243P |
Missense |
7/10 |
- |
4 |
7-44187384-AG-CA |
c.727_728delinsTG |
p.L243W |
Missense |
7/10 |
- |
1 |
7-44187384-AG-CC |
c.727_728delinsGG |
p.L243G |
Missense |
7/10 |
- |
1 |
7-44187384-AG-GA |
c.727_728delinsTC |
p.L243S |
Missense |
7/10 |
- |
1 |
7-44187384-AG-GC |
c.727_728delinsGC |
p.L243A |
Missense |
7/10 |
- |
1 |
7-44187384-AG-GT |
c.727_728delinsAC |
p.L243T |
Missense |
7/10 |
- |
1 |
7-44187384-AG-TC |
c.727_728delinsGA |
p.L243E |
Missense |
7/10 |
- |
1 |
7-44187384-AG-TT |
c.727_728delinsAA |
p.L243K |
Missense |
7/10 |
- |
1 |
7-44187384-A-T |
c.728T>A |
p.L243Q |
Missense |
7/10 |
- |
1 |
7-44187382-CCAGCTCCACATTCTG-C |
c.715_729del |
p.Q239_L243del |
InFrameDeletion |
7/10 |
- |
1 |
7-44187385-G-C |
c.727C>G |
p.L243V |
Missense |
7/10 |
- |
1 |
7-44187385-G-T |
c.727C>A |
p.L243M |
Missense |
7/10 |
- |
1 |
7-44187386-C-A |
c.726G>T |
p.E242D |
Missense |
7/10 |
- |
1 |
7-44187386-C-G |
c.726G>C |
p.E242D |
Missense |
7/10 |
- |
1 |
7-44187386-CTC-AAA |
c.724_726delinsTTT |
p.E242F |
Missense |
7/10 |
- |
1 |
7-44187386-CTC-ACA |
c.724_726delinsTGT |
p.E242C |
Missense |
7/10 |
- |
1 |
7-44187386-CTC-ATA |
c.724_726delinsTAT |
p.E242Y |
Missense |
7/10 |
- |
1 |
7-44187386-CTC-ATG |
c.724_726delinsCAT |
p.E242H |
Missense |
7/10 |
- |
1 |
7-44187386-CTC-GAT |
c.724_726delinsATC |
p.E242I |
Missense |
7/10 |
- |
1 |
7-44187386-CTC-GTT |
c.724_726delinsAAC |
p.E242N |
Missense |
7/10 |
- |
1 |
7-44187387-T-A |
c.725A>T |
p.E242V |
Missense |
7/10 |
- |
1 |
7-44187387-T-C |
c.725A>G |
p.E242G |
Missense |
7/10 |
- |
1 |
7-44187387-TC-AG |
c.724_725delinsCT |
p.E242L |
Missense |
7/10 |
- |
1 |
7-44187387-TC-AT |
c.724_725delinsAT |
p.E242M |
Missense |
7/10 |
- |
1 |
7-44187387-TC-CA |
c.724_725delinsTG |
p.E242W |
Missense |
7/10 |
- |
1 |
7-44187387-TC-CT |
c.724_725delinsAG |
p.E242R |
Missense |
7/10 |
- |
1 |
7-44187387-TC-GA |
c.724_725inv |
p.E242S |
Missense |
7/10 |
- |
1 |
7-44187387-TC-GG |
c.724_725delinsCC |
p.E242P |
Missense |
7/10 |
- |
1 |
7-44187387-TC-GT |
c.724_725delinsAC |
p.E242T |
Missense |
7/10 |
- |
1 |
7-44187387-T-G |
c.725A>C |
p.E242A |
Missense |
7/10 |
- |
1 |
7-44187388-C-A |
c.724G>T |
p.E242* |
Nonsense |
7/10 |
- |
1 |
7-44187388-C-G |
c.724G>C |
p.E242Q |
Missense |
7/10 |
- |
1 |
7-44187388-C-T |
c.724G>A |
p.E242K |
Missense |
7/10 |
- |
1 |
7-44187389-CAC-AAA |
c.721_723delinsTTT |
p.V241F |
Missense |
7/10 |
- |
1 |
7-44187389-CAC-ACA |
c.721_723delinsTGT |
p.V241C |
Missense |
7/10 |
- |
1 |
7-44187389-CAC-ATA |
c.721_723delinsTAT |
p.V241Y |
Missense |
7/10 |
- |
1 |
7-44187389-CAC-ATG |
c.721_723delinsCAT |
p.V241H |
Missense |
7/10 |
- |
1 |
7-44187389-CAC-GAT |
c.721_723delinsATC |
p.V241I |
Missense |
7/10 |
- |
1 |
7-44187389-CAC-GTT |
c.721_723delinsAAC |
p.V241N |
Missense |
7/10 |
- |
1 |
7-44187389-CA-GT |
c.722_723delinsAC |
p.V241D |
Missense |
7/10 |
- |
1 |
7-44187385-GCTCCACATTCTGCAT-G |
c.712_726del |
p.M238_E242del |
InFrameDeletion |
7/10 |
- |
1 |
7-44187390-A-C |
c.722T>G |
p.V241G |
Missense |
7/10 |
- |
2 |
7-44187390-AC-CA |
c.721_722delinsTG |
p.V241W |
Missense |
7/10 |
- |
1 |
7-44187390-AC-CT |
c.721_722delinsAG |
p.V241R |
Missense |
7/10 |
- |
1 |
7-44187390-AC-GA |
c.721_722delinsTC |
p.V241S |
Missense |
7/10 |
- |
1 |
7-44187390-AC-GG |
c.721_722delinsCC |
p.V241P |
Missense |
7/10 |
- |
1 |
7-44187390-AC-GT |
c.721_722inv |
p.V241T |
Missense |
7/10 |
- |
1 |
7-44187390-AC-TG |
c.721_722delinsCA |
p.V241Q |
Missense |
7/10 |
- |
1 |
7-44187390-AC-TT |
c.721_722delinsAA |
p.V241K |
Missense |
7/10 |
- |
1 |
7-44187390-A-G |
c.722T>C |
p.V241A |
Missense |
7/10 |
- |
2 |
7-44187390-A-T |
c.722T>A |
p.V241E |
Missense |
7/10 |
- |
1 |
7-44187391-C-A |
c.721G>T |
p.V241L |
Missense |
7/10 |
- |
2 |
7-44187391-C-G |
c.721G>C |
p.V241L |
Missense |
7/10 |
- |
1 |
7-44187391-C-T |
c.721G>A |
p.V241M |
Missense |
7/10 |
- |
2 |
7-44187392-A-C |
c.720T>G |
p.N240K |
Missense |
7/10 |
- |
2 |
7-44187392-A-T |
c.720T>A |
p.N240K |
Missense |
7/10 |
- |
2 |
7-44187392-AT-CA |
c.719_720delinsTG |
p.N240M |
Missense |
7/10 |
- |
1 |
7-44187392-AT-CC |
c.719_720delinsGG |
p.N240R |
Missense |
7/10 |
- |
1 |
7-44187392-ATT-CCA |
c.718_720delinsTGG |
p.N240W |
Missense |
7/10 |
- |
1 |
7-44187392-ATT-CTC |
c.718_720delinsGAG |
p.N240E |
Missense |
7/10 |
- |
1 |
7-44187392-ATT-TTG |
c.718_720delinsCAA |
p.N240Q |
Missense |
7/10 |
- |
1 |
7-44187393-T-A |
c.719A>T |
p.N240I |
Missense |
7/10 |
- |
1 |
7-44187393-T-C |
c.719A>G |
p.N240S |
Missense |
7/10 |
- |
2 |
7-44187393-T-G |
c.719A>C |
p.N240T |
Missense |
7/10 |
- |
2 |
7-44187393-TT-AA |
c.718_719inv |
p.N240F |
Missense |
7/10 |
- |
1 |
7-44187393-TT-AC |
c.718_719delinsGT |
p.N240V |
Missense |
7/10 |
- |
1 |
7-44187393-TT-AG |
c.718_719delinsCT |
p.N240L |
Missense |
7/10 |
- |
1 |
7-44187393-TT-CA |
c.718_719delinsTG |
p.N240C |
Missense |
7/10 |
- |
1 |
7-44187393-TT-CC |
c.718_719delinsGG |
p.N240G |
Missense |
7/10 |
- |
1 |
7-44187393-TT-GC |
c.718_719delinsGC |
p.N240A |
Missense |
7/10 |
- |
1 |
7-44187393-TT-GG |
c.718_719delinsCC |
p.N240P |
Missense |
7/10 |
- |
1 |
7-44187392-AT-A |
c.719del |
p.N240Mfs*54 |
Frameshift |
7/10 |
- |
1 |
7-44187394-T-A |
c.718A>T |
p.N240Y |
Missense |
7/10 |
- |
1 |
7-44187394-T-C |
c.718A>G |
p.N240D |
Missense |
7/10 |
- |
5 |
7-44187394-T-G |
c.718A>C |
p.N240H |
Missense |
7/10 |
- |
1 |
7-44187395-C-A |
c.717G>T |
p.Q239H |
Missense |
7/10 |
- |
1 |
7-44187395-C-G |
c.717G>C |
p.Q239H |
Missense |
7/10 |
- |
1 |
7-44187395-C-T |
c.717G>A |
p.Q239= |
Synonymous |
7/10 |
- |
1 |
7-44187395-CTG-AAA |
c.715_717delinsTTT |
p.Q239F |
Missense |
7/10 |
- |
1 |
7-44187395-CTG-ACA |
c.715_717delinsTGT |
p.Q239C |
Missense |
7/10 |
- |
1 |
7-44187395-CTG-ATA |
c.715_717delinsTAT |
p.Q239Y |
Missense |
7/10 |
- |
1 |
7-44187395-CTG-GAT |
c.715_717delinsATC |
p.Q239I |
Missense |
7/10 |
- |
1 |
7-44187395-CTG-GTC |
c.715_717delinsGAC |
p.Q239D |
Missense |
7/10 |
- |
1 |
7-44187395-CTG-GTT |
c.715_717delinsAAC |
p.Q239N |
Missense |
7/10 |
- |
1 |
7-44187396-T-A |
c.716A>T |
p.Q239L |
Missense |
7/10 |
- |
1 |
7-44187396-T-C |
c.716A>G |
p.Q239R |
Missense |
7/10 |
- |
8 |
7-44187396-T-G |
c.716A>C |
p.Q239P |
Missense |
7/10 |
- |
1 |
7-44187396-TG-AC |
c.715_716delinsGT |
p.Q239V |
Missense |
7/10 |
- |
1 |
7-44187396-TG-AT |
c.715_716delinsAT |
p.Q239M |
Missense |
7/10 |
- |
1 |
7-44187396-TG-CA |
c.715_716inv |
p.Q239W |
Missense |
7/10 |
- |
1 |
7-44187396-TG-CC |
c.715_716delinsGG |
p.Q239G |
Missense |
7/10 |
- |
1 |
7-44187396-TG-GA |
c.715_716delinsTC |
p.Q239S |
Missense |
7/10 |
- |
1 |
7-44187396-TG-GC |
c.715_716delinsGC |
p.Q239A |
Missense |
7/10 |
- |
1 |
7-44187396-TG-GT |
c.715_716delinsAC |
p.Q239T |
Missense |
7/10 |
- |
1 |
7-44187397-G-A |
c.715C>T |
p.Q239* |
Nonsense |
7/10 |
- |
1 |
7-44187397-G-C |
c.715C>G |
p.Q239E |
Missense |
7/10 |
- |
2 |
7-44187397-G-T |
c.715C>A |
p.Q239K |
Missense |
7/10 |
- |
1 |
7-44187398-C-A |
c.714G>T |
p.M238I |
Missense |
7/10 |
- |
1 |
7-44187398-CA-GC |
c.713_714delinsGC |
p.M238S |
Missense |
7/10 |
- |
1 |
7-44187398-CA-GT |
c.713_714delinsAC |
p.M238N |
Missense |
7/10 |
- |
1 |
7-44187398-CAT-AAA |
c.712_714delinsTTT |
p.M238F |
Missense |
7/10 |
- |
1 |
7-44187398-CAT-ACA |
c.712_714delinsTGT |
p.M238C |
Missense |
7/10 |
- |
1 |
7-44187398-CAT-ATA |
c.712_714delinsTAT |
p.M238Y |
Missense |
7/10 |
- |
1 |
7-44187398-CAT-ATG |
c.712_714inv |
p.M238H |
Missense |
7/10 |
- |
1 |
7-44187398-CAT-GTC |
c.712_714delinsGAC |
p.M238D |
Missense |
7/10 |
- |
1 |
7-44187398-C-G |
c.714G>C |
p.M238I |
Missense |
7/10 |
- |
1 |
7-44187398-C-T |
c.714G>A |
p.M238I |
Missense |
7/10 |
- |
1 |
7-44187399-A-C |
c.713T>G |
p.M238R |
Missense |
7/10 |
- |
1 |
7-44187399-A-G |
c.713T>C |
p.M238T |
Missense |
7/10 |
- |
2 |
7-44187399-A-T |
c.713T>A |
p.M238K |
Missense |
7/10 |
- |
1 |
7-44187399-AT-CA |
c.712_713delinsTG |
p.M238W |
Missense |
7/10 |
- |
1 |
7-44187399-AT-CC |
c.712_713delinsGG |
p.M238G |
Missense |
7/10 |
- |
1 |
7-44187399-AT-GC |
c.712_713delinsGC |
p.M238A |
Missense |
7/10 |
- |
1 |
7-44187399-AT-GG |
c.712_713delinsCC |
p.M238P |
Missense |
7/10 |
- |
1 |
7-44187399-AT-TC |
c.712_713delinsGA |
p.M238E |
Missense |
7/10 |
- |
1 |
7-44187399-AT-TG |
c.712_713delinsCA |
p.M238Q |
Missense |
7/10 |
- |
1 |
7-44187400-T-A |
c.712A>T |
p.M238L |
Missense |
7/10 |
- |
1 |
7-44187400-T-C |
c.712A>G |
p.M238V |
Missense |
7/10 |
- |
1 |
7-44187400-T-G |
c.712A>C |
p.M238L |
Missense |
7/10 |
- |
1 |
7-44187401-C-A |
c.711G>T |
p.E237D |
Missense |
7/10 |
- |
1 |
7-44187401-C-G |
c.711G>C |
p.E237D |
Missense |
7/10 |
- |
1 |
7-44187401-C-T |
c.711G>A |
p.E237= |
Synonymous |
7/10 |
- |
2 |
7-44187401-CTC-AAA |
c.709_711delinsTTT |
p.E237F |
Missense |
7/10 |
- |
1 |
7-44187401-CTC-ACA |
c.709_711delinsTGT |
p.E237C |
Missense |
7/10 |
- |
1 |
7-44187401-CTC-ATA |
c.709_711delinsTAT |
p.E237Y |
Missense |
7/10 |
- |
1 |
7-44187401-CTC-ATG |
c.709_711delinsCAT |
p.E237H |
Missense |
7/10 |
- |
1 |
7-44187401-CTC-GAT |
c.709_711delinsATC |
p.E237I |
Missense |
7/10 |
- |
1 |
7-44187401-CTC-GTT |
c.709_711delinsAAC |
p.E237N |
Missense |
7/10 |
- |
1 |
7-44187402-T-A |
c.710A>T |
p.E237V |
Missense |
7/10 |
- |
1 |
7-44187402-T-C |
c.710A>G |
p.E237G |
Missense |
7/10 |
- |
1 |
7-44187402-TC-AG |
c.709_710delinsCT |
p.E237L |
Missense |
7/10 |
- |
1 |
7-44187402-TC-AT |
c.709_710delinsAT |
p.E237M |
Missense |
7/10 |
- |
1 |
7-44187402-TC-CA |
c.709_710delinsTG |
p.E237W |
Missense |
7/10 |
- |
1 |
7-44187402-TC-CT |
c.709_710delinsAG |
p.E237R |
Missense |
7/10 |
- |
1 |
7-44187402-TC-GA |
c.709_710inv |
p.E237S |
Missense |
7/10 |
- |
1 |
7-44187402-TC-GG |
c.709_710delinsCC |
p.E237P |
Missense |
7/10 |
- |
1 |
7-44187402-TC-GT |
c.709_710delinsAC |
p.E237T |
Missense |
7/10 |
- |
1 |
7-44187402-T-G |
c.710A>C |
p.E237A |
Missense |
7/10 |
- |
1 |
7-44187403-C-G |
c.709G>C |
p.E237Q |
Missense |
7/10 |
- |
1 |
7-44187403-C-T |
c.709G>A |
p.E237K |
Missense |
7/10 |
- |
8 |
7-44187404-C-A |
c.708G>T |
p.E236D |
Missense |
7/10 |
- |
1 |
7-44187404-C-G |
c.708G>C |
p.E236D |
Missense |
7/10 |
- |
1 |
7-44187404-CTC-AAA |
c.706_708delinsTTT |
p.E236F |
Missense |
7/10 |
- |
1 |
7-44187404-CTC-ACA |
c.706_708delinsTGT |
p.E236C |
Missense |
7/10 |
- |
1 |
7-44187404-CTC-ATA |
c.706_708delinsTAT |
p.E236Y |
Missense |
7/10 |
- |
1 |
7-44187404-CTC-ATG |
c.706_708delinsCAT |
p.E236H |
Missense |
7/10 |
- |
1 |
7-44187404-CTC-GAT |
c.706_708delinsATC |
p.E236I |
Missense |
7/10 |
- |
1 |
7-44187404-CTC-GTT |
c.706_708delinsAAC |
p.E236N |
Missense |
7/10 |
- |
1 |
7-44187400-TCTC-T |
c.709_711del |
p.E237del |
InFrameDeletion |
7/10 |
- |
1 |
7-44187405-T-A |
c.707A>T |
p.E236V |
Missense |
7/10 |
- |
1 |
7-44187405-T-C |
c.707A>G |
p.E236G |
Missense |
7/10 |
- |
1 |
7-44187405-TC-AG |
c.706_707delinsCT |
p.E236L |
Missense |
7/10 |
- |
1 |
7-44187405-TC-AT |
c.706_707delinsAT |
p.E236M |
Missense |
7/10 |
- |
1 |
7-44187405-TC-CA |
c.706_707delinsTG |
p.E236W |
Missense |
7/10 |
- |
1 |
7-44187405-TC-CT |
c.706_707delinsAG |
p.E236R |
Missense |
7/10 |
- |
1 |
7-44187405-TC-GA |
c.706_707inv |
p.E236S |
Missense |
7/10 |
- |
1 |
7-44187405-TC-GG |
c.706_707delinsCC |
p.E236P |
Missense |
7/10 |
- |
1 |
7-44187405-TC-GT |
c.706_707delinsAC |
p.E236T |
Missense |
7/10 |
- |
1 |
7-44187405-T-G |
c.707A>C |
p.E236A |
Missense |
7/10 |
- |
2 |
7-44187406-C-G |
c.706G>C |
p.E236Q |
Missense |
7/10 |
- |
1 |
7-44187406-C-T |
c.706G>A |
p.E236K |
Missense |
7/10 |
- |
10 |
7-44187407-C-A |
c.705G>T |
p.M235I |
Missense |
7/10 |
- |
2 |
7-44187407-CA-GC |
c.704_705delinsGC |
p.M235S |
Missense |
7/10 |
- |
1 |
7-44187407-CA-GT |
c.704_705delinsAC |
p.M235N |
Missense |
7/10 |
- |
1 |
7-44187407-CAT-AAA |
c.703_705delinsTTT |
p.M235F |
Missense |
7/10 |
- |
1 |
7-44187407-CAT-ACA |
c.703_705delinsTGT |
p.M235C |
Missense |
7/10 |
- |
1 |
7-44187407-CAT-ATA |
c.703_705delinsTAT |
p.M235Y |
Missense |
7/10 |
- |
1 |
7-44187407-CAT-ATG |
c.703_705inv |
p.M235H |
Missense |
7/10 |
- |
1 |
7-44187407-CAT-GTC |
c.703_705delinsGAC |
p.M235D |
Missense |
7/10 |
- |
1 |
7-44187407-C-G |
c.705G>C |
p.M235I |
Missense |
7/10 |
- |
2 |
7-44187407-C-T |
c.705G>A |
p.M235I |
Missense |
7/10 |
- |
3 |
7-44187408-A-C |
c.704T>G |
p.M235R |
Missense |
7/10 |
- |
2 |
7-44187408-A-G |
c.704T>C |
p.M235T |
Missense |
7/10 |
- |
15 |
7-44187408-A-T |
c.704T>A |
p.M235K |
Missense |
7/10 |
- |
2 |
7-44187408-AT-CA |
c.703_704delinsTG |
p.M235W |
Missense |
7/10 |
- |
1 |
7-44187408-AT-CC |
c.703_704delinsGG |
p.M235G |
Missense |
7/10 |
- |
1 |
7-44187408-AT-GC |
c.703_704delinsGC |
p.M235A |
Missense |
7/10 |
- |
1 |
7-44187408-AT-GG |
c.703_704delinsCC |
p.M235P |
Missense |
7/10 |
- |
1 |
7-44187408-AT-TC |
c.703_704delinsGA |
p.M235E |
Missense |
7/10 |
- |
1 |
7-44187408-AT-TG |
c.703_704delinsCA |
p.M235Q |
Missense |
7/10 |
- |
1 |
7-44187409-T-A |
c.703A>T |
p.M235L |
Missense |
7/10 |
- |
3 |
7-44187409-T-C |
c.703A>G |
p.M235V |
Missense |
7/10 |
- |
6 |
7-44187409-T-G |
c.703A>C |
p.M235L |
Missense |
7/10 |
- |
2 |
7-44187410-G-C |
c.702C>G |
p.Y234* |
Nonsense |
7/10 |
- |
1 |
7-44187410-G-T |
c.702C>A |
p.Y234* |
Nonsense |
7/10 |
- |
1 |
7-44187410-GTA-CAT |
c.700_702delinsATG |
p.Y234M |
Missense |
7/10 |
- |
1 |
7-44187410-GTA-CTC |
c.700_702delinsGAG |
p.Y234E |
Missense |
7/10 |
- |
1 |
7-44187410-GTA-CTT |
c.700_702delinsAAG |
p.Y234K |
Missense |
7/10 |
- |
1 |
7-44187410-GTA-TTG |
c.700_702delinsCAA |
p.Y234Q |
Missense |
7/10 |
- |
1 |
7-44187410-GT-CC |
c.701_702delinsGG |
p.Y234W |
Missense |
7/10 |
- |
1 |
7-44187411-T-A |
c.701A>T |
p.Y234F |
Missense |
7/10 |
- |
1 |
7-44187411-TA-AC |
c.700_701delinsGT |
p.Y234V |
Missense |
7/10 |
- |
1 |
7-44187411-TA-AG |
c.700_701delinsCT |
p.Y234L |
Missense |
7/10 |
- |
1 |
7-44187411-TA-AT |
c.700_701delinsAT |
p.Y234I |
Missense |
7/10 |
- |
1 |
7-44187411-TA-CC |
c.700_701delinsGG |
p.Y234G |
Missense |
7/10 |
- |
1 |
7-44187411-TA-CG |
c.700_701delinsCG |
p.Y234R |
Missense |
7/10 |
- |
1 |
7-44187411-TA-GC |
c.700_701delinsGC |
p.Y234A |
Missense |
7/10 |
- |
1 |
7-44187411-TA-GG |
c.700_701delinsCC |
p.Y234P |
Missense |
7/10 |
- |
1 |
7-44187411-TA-GT |
c.700_701delinsAC |
p.Y234T |
Missense |
7/10 |
- |
1 |
7-44187411-T-C |
c.701A>G |
p.Y234C |
Missense |
7/10 |
- |
1 |
7-44187411-T-G |
c.701A>C |
p.Y234S |
Missense |
7/10 |
- |
2 |
7-44187412-A-C |
c.700T>G |
p.Y234D |
Missense |
7/10 |
- |
1 |
7-44187412-A-G |
c.700T>C |
p.Y234H |
Missense |
7/10 |
- |
4 |
7-44187412-A-T |
c.700T>A |
p.Y234N |
Missense |
7/10 |
- |
1 |
7-44187413-G-C |
c.699C>G |
p.C233W |
Missense |
7/10 |
- |
1 |
7-44187413-GCA-CAT |
c.697_699delinsATG |
p.C233M |
Missense |
7/10 |
- |
1 |
7-44187413-GCA-CTC |
c.697_699delinsGAG |
p.C233E |
Missense |
7/10 |
- |
1 |
7-44187413-GCA-CTT |
c.697_699delinsAAG |
p.C233K |
Missense |
7/10 |
- |
1 |
7-44187413-GCA-TTG |
c.697_699delinsCAA |
p.C233Q |
Missense |
7/10 |
- |
1 |
7-44187414-C-A |
c.698G>T |
p.C233F |
Missense |
7/10 |
- |
1 |
7-44187414-CA-AC |
c.697_698delinsGT |
p.C233V |
Missense |
7/10 |
- |
1 |
7-44187414-CA-AG |
c.697_698delinsCT |
p.C233L |
Missense |
7/10 |
- |
1 |
7-44187414-CA-AT |
c.697_698delinsAT |
p.C233I |
Missense |
7/10 |
- |
1 |
7-44187414-CA-GC |
c.697_698delinsGC |
p.C233A |
Missense |
7/10 |
- |
1 |
7-44187414-CA-GG |
c.697_698delinsCC |
p.C233P |
Missense |
7/10 |
- |
1 |
7-44187414-CA-GT |
c.697_698delinsAC |
p.C233T |
Missense |
7/10 |
- |
1 |
7-44187414-CA-TC |
c.697_698delinsGA |
p.C233D |
Missense |
7/10 |
- |
1 |
7-44187414-CA-TG |
c.697_698inv |
p.C233H |
Missense |
7/10 |
- |
1 |
7-44187414-CA-TT |
c.697_698delinsAA |
p.C233N |
Missense |
7/10 |
- |
1 |
7-44187414-C-T |
c.698G>A |
p.C233Y |
Missense |
7/10 |
- |
4 |
7-44187414-C-G |
c.698G>C |
p.C233S |
Missense |
7/10 |
- |
2 |
7-44187415-A-C |
c.697T>G |
p.C233G |
Missense |
7/10 |
- |
1 |
7-44187415-A-G |
c.697T>C |
p.C233R |
Missense |
7/10 |
- |
4 |
7-44187415-A-T |
c.697T>A |
p.C233S |
Missense |
7/10 |
- |
2 |
7-44187416-GGC-CAT |
c.694_696delinsATG |
p.A232M |
Missense |
7/10 |
- |
1 |
7-44187416-GGC-CCA |
c.694_696delinsTGG |
p.A232W |
Missense |
7/10 |
- |
1 |
7-44187416-GGC-CTT |
c.694_696delinsAAG |
p.A232K |
Missense |
7/10 |
- |
1 |
7-44187416-GG-CT |
c.695_696delinsAG |
p.A232E |
Missense |
7/10 |
- |
1 |
7-44187416-GGC-TTG |
c.694_696delinsCAA |
p.A232Q |
Missense |
7/10 |
- |
1 |
7-44187417-G-A |
c.695C>T |
p.A232V |
Missense |
7/10 |
- |
1 |
7-44187417-G-C |
c.695C>G |
p.A232G |
Missense |
7/10 |
- |
1 |
7-44187417-GC-AA |
c.694_695delinsTT |
p.A232F |
Missense |
7/10 |
- |
1 |
7-44187417-GC-AG |
c.694_695delinsCT |
p.A232L |
Missense |
7/10 |
- |
1 |
7-44187417-GC-AT |
c.694_695delinsAT |
p.A232I |
Missense |
7/10 |
- |
1 |
7-44187417-GC-CA |
c.694_695delinsTG |
p.A232C |
Missense |
7/10 |
- |
1 |
7-44187417-GC-CG |
c.694_695delinsCG |
p.A232R |
Missense |
7/10 |
- |
1 |
7-44187417-GC-TA |
c.694_695delinsTA |
p.A232Y |
Missense |
7/10 |
- |
1 |
7-44187417-GC-TG |
c.694_695delinsCA |
p.A232H |
Missense |
7/10 |
- |
1 |
7-44187417-GC-TT |
c.694_695delinsAA |
p.A232N |
Missense |
7/10 |
- |
1 |
7-44187417-G-T |
c.695C>A |
p.A232D |
Missense |
7/10 |
- |
3 |
7-44187418-C-A |
c.694G>T |
p.A232S |
Missense |
7/10 |
- |
1 |
7-44187418-C-G |
c.694G>C |
p.A232P |
Missense |
7/10 |
- |
1 |
7-44187418-C-T |
c.694G>A |
p.A232T |
Missense |
7/10 |
- |
4 |
7-44187419-A-C |
c.693T>G |
p.N231K |
Missense |
7/10 |
- |
1 |
7-44187419-A-T |
c.693T>A |
p.N231K |
Missense |
7/10 |
- |
1 |
7-44187419-AT-CA |
c.692_693delinsTG |
p.N231M |
Missense |
7/10 |
- |
1 |
7-44187419-AT-CC |
c.692_693delinsGG |
p.N231R |
Missense |
7/10 |
- |
1 |
7-44187419-ATT-CCA |
c.691_693delinsTGG |
p.N231W |
Missense |
7/10 |
- |
1 |
7-44187419-ATT-CTC |
c.691_693delinsGAG |
p.N231E |
Missense |
7/10 |
- |
1 |
7-44187419-ATT-TTG |
c.691_693delinsCAA |
p.N231Q |
Missense |
7/10 |
- |
1 |
7-44187420-T-A |
c.692A>T |
p.N231I |
Missense |
7/10 |
- |
1 |
7-44187420-T-C |
c.692A>G |
p.N231S |
Missense |
7/10 |
- |
2 |
7-44187420-T-G |
c.692A>C |
p.N231T |
Missense |
7/10 |
- |
1 |
7-44187420-TT-AA |
c.691_692inv |
p.N231F |
Missense |
7/10 |
- |
1 |
7-44187420-TT-AC |
c.691_692delinsGT |
p.N231V |
Missense |
7/10 |
- |
1 |
7-44187420-TT-AG |
c.691_692delinsCT |
p.N231L |
Missense |
7/10 |
- |
1 |
7-44187420-TT-CA |
c.691_692delinsTG |
p.N231C |
Missense |
7/10 |
- |
1 |
7-44187420-TT-CC |
c.691_692delinsGG |
p.N231G |
Missense |
7/10 |
- |
1 |
7-44187420-TT-GC |
c.691_692delinsGC |
p.N231A |
Missense |
7/10 |
- |
1 |
7-44187420-TT-GG |
c.691_692delinsCC |
p.N231P |
Missense |
7/10 |
- |
1 |
7-44187421-T-A |
c.691A>T |
p.N231Y |
Missense |
7/10 |
- |
1 |
7-44187421-T-C |
c.691A>G |
p.N231D |
Missense |
7/10 |
- |
1 |
7-44187421-T-G |
c.691A>C |
p.N231H |
Missense |
7/10 |
- |
3 |
7-44187422-G-C |
c.690C>G |
p.C230W |
Missense |
7/10 |
- |
1 |
7-44187422-GCA-CAT |
c.688_690delinsATG |
p.C230M |
Missense |
7/10 |
- |
1 |
7-44187422-GCA-CTC |
c.688_690delinsGAG |
p.C230E |
Missense |
7/10 |
- |
1 |
7-44187422-GCA-CTT |
c.688_690delinsAAG |
p.C230K |
Missense |
7/10 |
- |
1 |
7-44187422-GCA-TTG |
c.688_690delinsCAA |
p.C230Q |
Missense |
7/10 |
- |
1 |
7-44187423-C-A |
c.689G>T |
p.C230F |
Missense |
7/10 |
- |
1 |
7-44187423-CA-AC |
c.688_689delinsGT |
p.C230V |
Missense |
7/10 |
- |
1 |
7-44187423-CA-AG |
c.688_689delinsCT |
p.C230L |
Missense |
7/10 |
- |
1 |
7-44187423-CA-AT |
c.688_689delinsAT |
p.C230I |
Missense |
7/10 |
- |
1 |
7-44187423-CA-GC |
c.688_689delinsGC |
p.C230A |
Missense |
7/10 |
- |
1 |
7-44187423-CA-GG |
c.688_689delinsCC |
p.C230P |
Missense |
7/10 |
- |
1 |
7-44187423-CA-GT |
c.688_689delinsAC |
p.C230T |
Missense |
7/10 |
- |
1 |
7-44187423-CA-TC |
c.688_689delinsGA |
p.C230D |
Missense |
7/10 |
- |
1 |
7-44187423-CA-TG |
c.688_689inv |
p.C230H |
Missense |
7/10 |
- |
1 |
7-44187423-CA-TT |
c.688_689delinsAA |
p.C230N |
Missense |
7/10 |
- |
1 |
7-44187423-C-T |
c.689G>A |
p.C230Y |
Missense |
7/10 |
- |
4 |
7-44187423-C-G |
c.689G>C |
p.C230S |
Missense |
7/10 |
- |
2 |
7-44187424-A-C |
c.688T>G |
p.C230G |
Missense |
7/10 |
- |
2 |
7-44187424-A-G |
c.688T>C |
p.C230R |
Missense |
7/10 |
- |
1 |
7-44187424-A-T |
c.688T>A |
p.C230S |
Missense |
7/10 |
- |
2 |
7-44187425-GCC-CAT |
c.685_687delinsATG |
p.G229M |
Missense |
7/10 |
- |
1 |
7-44187425-GCC-CCA |
c.685_687delinsTGG |
p.G229W |
Missense |
7/10 |
- |
1 |
7-44187425-GCC-CTT |
c.685_687delinsAAG |
p.G229K |
Missense |
7/10 |
- |
1 |
7-44187425-GC-CT |
c.686_687delinsAG |
p.G229E |
Missense |
7/10 |
- |
1 |
7-44187425-GCC-TTG |
c.685_687delinsCAA |
p.G229Q |
Missense |
7/10 |
- |
1 |
7-44187426-C-A |
c.686G>T |
p.G229V |
Missense |
7/10 |
- |
4 |
7-44187426-CC-AA |
c.685_686delinsTT |
p.G229F |
Missense |
7/10 |
- |
1 |
7-44187426-CC-AG |
c.685_686delinsCT |
p.G229L |
Missense |
7/10 |
- |
1 |
7-44187426-CC-AT |
c.685_686delinsAT |
p.G229I |
Missense |
7/10 |
- |
1 |
7-44187426-CC-GG |
c.685_686inv |
p.G229P |
Missense |
7/10 |
- |
1 |
7-44187426-CC-GT |
c.685_686delinsAC |
p.G229T |
Missense |
7/10 |
- |
1 |
7-44187426-CC-TA |
c.685_686delinsTA |
p.G229Y |
Missense |
7/10 |
- |
1 |
7-44187426-CC-TG |
c.685_686delinsCA |
p.G229H |
Missense |
7/10 |
- |
1 |
7-44187426-CC-TT |
c.685_686delinsAA |
p.G229N |
Missense |
7/10 |
- |
1 |
7-44187426-C-G |
c.686G>C |
p.G229A |
Missense |
7/10 |
- |
1 |
7-44187426-C-T |
c.686G>A |
p.G229D |
Missense |
7/10 |
- |
6 |
7-44187427-C-A |
c.685G>T |
p.G229C |
Missense |
7/10 |
- |
1 |
7-44187427-C-G |
c.685G>C |
p.G229R |
Missense |
7/10 |
- |
1 |
7-44187427-C-T |
c.685G>A |
p.G229S |
Missense |
7/10 |
- |
2 |
7-44187428-CG-GA |
c.683_684delinsTC |
p.T228I |
Missense |
7/10 |
- |
1 |
7-44187428-CG-GT |
c.683_684delinsAC |
p.T228N |
Missense |
7/10 |
- |
1 |
7-44187428-CGT-AAA |
c.682_684delinsTTT |
p.T228F |
Missense |
7/10 |
- |
1 |
7-44187428-CGT-ACA |
c.682_684delinsTGT |
p.T228C |
Missense |
7/10 |
- |
1 |
7-44187428-CGT-ATA |
c.682_684delinsTAT |
p.T228Y |
Missense |
7/10 |
- |
1 |
7-44187428-CGT-ATG |
c.682_684delinsCAT |
p.T228H |
Missense |
7/10 |
- |
1 |
7-44187428-CGT-GTC |
c.682_684delinsGAC |
p.T228D |
Missense |
7/10 |
- |
1 |
7-44187429-G-A |
c.683C>T |
p.T228M |
Missense |
7/10 |
- |
28 |
7-44187429-G-C |
c.683C>G |
p.T228R |
Missense |
7/10 |
- |
3 |
7-44187429-G-T |
c.683C>A |
p.T228K |
Missense |
7/10 |
- |
3 |
7-44187429-GT-AC |
c.682_683inv |
p.T228V |
Missense |
7/10 |
- |
1 |
7-44187429-GT-AG |
c.682_683delinsCT |
p.T228L |
Missense |
7/10 |
- |
1 |
7-44187429-GT-CA |
c.682_683delinsTG |
p.T228W |
Missense |
7/10 |
- |
1 |
7-44187429-GT-CC |
c.682_683delinsGG |
p.T228G |
Missense |
7/10 |
- |
1 |
7-44187429-GT-TC |
c.682_683delinsGA |
p.T228E |
Missense |
7/10 |
- |
1 |
7-44187429-GT-TG |
c.682_683delinsCA |
p.T228Q |
Missense |
7/10 |
- |
1 |
7-44187430-T-A |
c.682A>T |
p.T228S |
Missense |
7/10 |
- |
1 |
7-44187430-T-C |
c.682A>G |
p.T228A |
Missense |
7/10 |
- |
8 |
7-44187430-T-G |
c.682A>C |
p.T228P |
Missense |
7/10 |
- |
1 |
7-44187431-GC-CT |
c.680_681delinsAG |
p.G227E |
Missense |
7/10 |
- |
1 |
7-44187432-C-A |
c.680G>T |
p.G227V |
Missense |
7/10 |
- |
1 |
7-44187432-C-G |
c.680G>C |
p.G227A |
Missense |
7/10 |
- |
1 |
7-44187432-C-T |
c.680G>A |
p.G227D |
Missense |
7/10 |
- |
4 |
7-44187528-T-C |
c.680-96A>G |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44188220-T-C |
c.680-788A>G |
- |
IntronicSNV |
- |
6/9 |
2 |
7-44188409-C-T |
c.679+950G>A |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189010-C-G |
c.679+349G>C |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189010-C-T |
c.679+349G>A |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189023-T-C |
c.679+336A>G |
- |
IntronicSNV |
- |
6/9 |
2 |
7-44189165-C-T |
c.679+194G>A |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189166-G-A |
c.679+193C>T |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189177-T-C |
c.679+182A>G |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189183-T-C |
c.679+176A>G |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189190-G-A |
c.679+169C>T |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189198-C-T |
c.679+161G>A |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189274-T-C |
c.679+85A>G |
- |
IntronicSNV |
- |
6/9 |
10 |
7-44189286-A-G |
c.679+73T>C |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189298-G-A |
c.679+61C>T |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189321-A-G |
c.679+38T>C |
- |
IntronicSNV |
- |
6/9 |
13 |
7-44189321-A-T |
c.679+38T>A |
- |
IntronicSNV |
- |
6/9 |
8 |
7-44189329-G-A |
c.679+30C>T |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189357-A-G |
c.679+2T>C |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189358-C-G |
c.679+1G>C |
- |
IntronicSNV |
- |
6/9 |
1 |
7-44189358-C-T |
c.679+1G>A |
- |
IntronicSNV |
- |
6/9 |
2 |
7-44189356-TACCC-T |
c.678_679+2del |
- |
SpliceDonorDeletion |
6/10 |
- |
3 |
7-44189359-C-A |
c.679G>T |
p.G227C |
Missense |
6/10 |
- |
6 |
7-44189359-C-G |
c.679G>C |
p.G227R |
Missense |
6/10 |
- |
2 |
7-44189359-C-T |
c.679G>A |
p.G227S |
Missense |
6/10 |
- |
2 |
7-44189357-AC-A |
c.679+1del |
- |
IntronicDeletion |
6/10 |
- |
1 |
7-44189360-CAC-AAA |
c.676_678delinsTTT |
p.V226F |
Missense |
6/10 |
- |
1 |
7-44189360-CAC-ACA |
c.676_678delinsTGT |
p.V226C |
Missense |
6/10 |
- |
1 |
7-44189360-CAC-ATA |
c.676_678delinsTAT |
p.V226Y |
Missense |
6/10 |
- |
1 |
7-44189360-CAC-ATG |
c.676_678delinsCAT |
p.V226H |
Missense |
6/10 |
- |
1 |
7-44189360-CAC-GAT |
c.676_678delinsATC |
p.V226I |
Missense |
6/10 |
- |
1 |
7-44189360-CAC-GTT |
c.676_678delinsAAC |
p.V226N |
Missense |
6/10 |
- |
1 |
7-44189360-CA-GT |
c.677_678delinsAC |
p.V226D |
Missense |
6/10 |
- |
1 |
7-44189361-A-C |
c.677T>G |
p.V226G |
Missense |
6/10 |
- |
1 |
7-44189361-AC-CA |
c.676_677delinsTG |
p.V226W |
Missense |
6/10 |
- |
1 |
7-44189361-AC-CT |
c.676_677delinsAG |
p.V226R |
Missense |
6/10 |
- |
1 |
7-44189361-AC-GA |
c.676_677delinsTC |
p.V226S |
Missense |
6/10 |
- |
1 |
7-44189361-AC-GG |
c.676_677delinsCC |
p.V226P |
Missense |
6/10 |
- |
1 |
7-44189361-AC-GT |
c.676_677inv |
p.V226T |
Missense |
6/10 |
- |
1 |
7-44189361-AC-TG |
c.676_677delinsCA |
p.V226Q |
Missense |
6/10 |
- |
1 |
7-44189361-AC-TT |
c.676_677delinsAA |
p.V226K |
Missense |
6/10 |
- |
1 |
7-44189361-A-G |
c.677T>C |
p.V226A |
Missense |
6/10 |
- |
4 |
7-44189361-A-T |
c.677T>A |
p.V226E |
Missense |
6/10 |
- |
3 |
7-44189362-C-A |
c.676G>T |
p.V226L |
Missense |
6/10 |
- |
2 |
7-44189362-C-G |
c.676G>C |
p.V226L |
Missense |
6/10 |
- |
2 |
7-44189362-C-T |
c.676G>A |
p.V226M |
Missense |
6/10 |
- |
25 |
7-44189363-G-A |
c.675C>T |
p.I225= |
Synonymous |
6/10 |
- |
3 |
7-44189363-GA-CC |
c.674_675delinsGG |
p.I225R |
Missense |
6/10 |
- |
1 |
7-44189363-GA-CT |
c.674_675delinsAG |
p.I225K |
Missense |
6/10 |
- |
1 |
7-44189363-GAT-CCA |
c.673_675delinsTGG |
p.I225W |
Missense |
6/10 |
- |
1 |
7-44189363-GAT-CTC |
c.673_675delinsGAG |
p.I225E |
Missense |
6/10 |
- |
1 |
7-44189363-GAT-TTG |
c.673_675delinsCAA |
p.I225Q |
Missense |
6/10 |
- |
1 |
7-44189363-G-C |
c.675C>G |
p.I225M |
Missense |
6/10 |
- |
9 |
7-44189364-A-C |
c.674T>G |
p.I225S |
Missense |
6/10 |
- |
1 |
7-44189364-A-G |
c.674T>C |
p.I225T |
Missense |
6/10 |
- |
1 |
7-44189364-A-T |
c.674T>A |
p.I225N |
Missense |
6/10 |
- |
1 |
7-44189364-AT-CA |
c.673_674delinsTG |
p.I225C |
Missense |
6/10 |
- |
1 |
7-44189364-AT-CC |
c.673_674delinsGG |
p.I225G |
Missense |
6/10 |
- |
1 |
7-44189364-AT-GC |
c.673_674delinsGC |
p.I225A |
Missense |
6/10 |
- |
1 |
7-44189364-AT-GG |
c.673_674delinsCC |
p.I225P |
Missense |
6/10 |
- |
1 |
7-44189364-AT-TA |
c.673_674delinsTA |
p.I225Y |
Missense |
6/10 |
- |
1 |
7-44189364-AT-TC |
c.673_674delinsGA |
p.I225D |
Missense |
6/10 |
- |
1 |
7-44189364-AT-TG |
c.673_674delinsCA |
p.I225H |
Missense |
6/10 |
- |
1 |
7-44189365-T-A |
c.673A>T |
p.I225F |
Missense |
6/10 |
- |
3 |
7-44189365-T-C |
c.673A>G |
p.I225V |
Missense |
6/10 |
- |
1 |
7-44189365-T-G |
c.673A>C |
p.I225L |
Missense |
6/10 |
- |
1 |
7-44189366-C-A |
c.672G>T |
p.M224I |
Missense |
6/10 |
- |
1 |
7-44189366-CA-GC |
c.671_672delinsGC |
p.M224S |
Missense |
6/10 |
- |
1 |
7-44189366-CA-GT |
c.671_672delinsAC |
p.M224N |
Missense |
6/10 |
- |
1 |
7-44189366-CAT-AAA |
c.670_672delinsTTT |
p.M224F |
Missense |
6/10 |
- |
1 |
7-44189366-CAT-ACA |
c.670_672delinsTGT |
p.M224C |
Missense |
6/10 |
- |
1 |
7-44189366-CAT-ATA |
c.670_672delinsTAT |
p.M224Y |
Missense |
6/10 |
- |
1 |
7-44189366-CAT-ATG |
c.670_672inv |
p.M224H |
Missense |
6/10 |
- |
1 |
7-44189366-CAT-GTC |
c.670_672delinsGAC |
p.M224D |
Missense |
6/10 |
- |
1 |
7-44189366-C-G |
c.672G>C |
p.M224I |
Missense |
6/10 |
- |
1 |
7-44189366-C-T |
c.672G>A |
p.M224I |
Missense |
6/10 |
- |
1 |
7-44189367-A-C |
c.671T>G |
p.M224R |
Missense |
6/10 |
- |
2 |
7-44189367-A-G |
c.671T>C |
p.M224T |
Missense |
6/10 |
- |
3 |
7-44189367-A-T |
c.671T>A |
p.M224K |
Missense |
6/10 |
- |
3 |
7-44189367-AT-CA |
c.670_671delinsTG |
p.M224W |
Missense |
6/10 |
- |
1 |
7-44189367-AT-CC |
c.670_671delinsGG |
p.M224G |
Missense |
6/10 |
- |
1 |
7-44189367-AT-GC |
c.670_671delinsGC |
p.M224A |
Missense |
6/10 |
- |
1 |
7-44189367-AT-GG |
c.670_671delinsCC |
p.M224P |
Missense |
6/10 |
- |
1 |
7-44189367-AT-TC |
c.670_671delinsGA |
p.M224E |
Missense |
6/10 |
- |
1 |
7-44189367-AT-TG |
c.670_671delinsCA |
p.M224Q |
Missense |
6/10 |
- |
1 |
7-44189368-T-A |
c.670A>T |
p.M224L |
Missense |
6/10 |
- |
1 |
7-44189368-T-C |
c.670A>G |
p.M224V |
Missense |
6/10 |
- |
1 |
7-44189368-T-G |
c.670A>C |
p.M224L |
Missense |
6/10 |
- |
1 |
7-44189369-G-A |
c.669C>T |
p.G223= |
Synonymous |
6/10 |
- |
1 |
7-44189369-GCC-CAT |
c.667_669delinsATG |
p.G223M |
Missense |
6/10 |
- |
1 |
7-44189369-GCC-CCA |
c.667_669delinsTGG |
p.G223W |
Missense |
6/10 |
- |
1 |
7-44189369-GCC-CTT |
c.667_669delinsAAG |
p.G223K |
Missense |
6/10 |
- |
1 |
7-44189369-GC-CT |
c.668_669delinsAG |
p.G223E |
Missense |
6/10 |
- |
1 |
7-44189369-GCC-TTG |
c.667_669delinsCAA |
p.G223Q |
Missense |
6/10 |
- |
1 |
7-44189370-C-A |
c.668G>T |
p.G223V |
Missense |
6/10 |
- |
3 |
7-44189370-CC-AA |
c.667_668delinsTT |
p.G223F |
Missense |
6/10 |
- |
1 |
7-44189370-CC-AG |
c.667_668delinsCT |
p.G223L |
Missense |
6/10 |
- |
1 |
7-44189370-CC-AT |
c.667_668delinsAT |
p.G223I |
Missense |
6/10 |
- |
1 |
7-44189370-CC-GG |
c.667_668inv |
p.G223P |
Missense |
6/10 |
- |
1 |
7-44189370-CC-GT |
c.667_668delinsAC |
p.G223T |
Missense |
6/10 |
- |
1 |
7-44189370-CC-TA |
c.667_668delinsTA |
p.G223Y |
Missense |
6/10 |
- |
1 |
7-44189370-CC-TG |
c.667_668delinsCA |
p.G223H |
Missense |
6/10 |
- |
2 |
7-44189370-CC-TT |
c.667_668delinsAA |
p.G223N |
Missense |
6/10 |
- |
1 |
7-44189370-C-G |
c.668G>C |
p.G223A |
Missense |
6/10 |
- |
1 |
7-44189370-C-T |
c.668G>A |
p.G223D |
Missense |
6/10 |
- |
1 |
7-44189371-C-A |
c.667G>T |
p.G223C |
Missense |
6/10 |
- |
1 |
7-44189371-C-G |
c.667G>C |
p.G223R |
Missense |
6/10 |
- |
3 |
7-44189371-C-T |
c.667G>A |
p.G223S |
Missense |
6/10 |
- |
20 |
7-44189372-G-A |
c.666C>T |
p.V222= |
Synonymous |
6/10 |
- |
5 |
7-44189372-GAC-CAT |
c.664_666delinsATG |
p.V222M |
Missense |
6/10 |
- |
1 |
7-44189372-GAC-CCA |
c.664_666delinsTGG |
p.V222W |
Missense |
6/10 |
- |
1 |
7-44189372-GAC-CTT |
c.664_666delinsAAG |
p.V222K |
Missense |
6/10 |
- |
1 |
7-44189372-GA-CT |
c.665_666delinsAG |
p.V222E |
Missense |
6/10 |
- |
1 |
7-44189372-GAC-TTG |
c.664_666delinsCAA |
p.V222Q |
Missense |
6/10 |
- |
1 |
7-44189372-G-C |
c.666C>G |
p.V222= |
Synonymous |
6/10 |
- |
1 |
7-44189372-G-T |
c.666C>A |
p.V222= |
Synonymous |
6/10 |
- |
1 |
7-44189373-A-C |
c.665T>G |
p.V222G |
Missense |
6/10 |
- |
1 |
7-44189373-AC-CA |
c.664_665delinsTG |
p.V222C |
Missense |
6/10 |
- |
1 |
7-44189373-AC-CG |
c.664_665delinsCG |
p.V222R |
Missense |
6/10 |
- |
1 |
7-44189373-AC-CT |
c.664_665delinsAG |
p.V222S |
Missense |
6/10 |
- |
1 |
7-44189373-AC-GG |
c.664_665delinsCC |
p.V222P |
Missense |
6/10 |
- |
1 |
7-44189373-AC-GT |
c.664_665inv |
p.V222T |
Missense |
6/10 |
- |
1 |
7-44189373-AC-TA |
c.664_665delinsTA |
p.V222Y |
Missense |
6/10 |
- |
1 |
7-44189373-AC-TG |
c.664_665delinsCA |
p.V222H |
Missense |
6/10 |
- |
1 |
7-44189373-AC-TT |
c.664_665delinsAA |
p.V222N |
Missense |
6/10 |
- |
1 |
7-44189373-A-G |
c.665T>C |
p.V222A |
Missense |
6/10 |
- |
3 |
7-44189373-A-T |
c.665T>A |
p.V222D |
Missense |
6/10 |
- |
1 |
7-44189374-C-A |
c.664G>T |
p.V222F |
Missense |
6/10 |
- |
2 |
7-44189374-C-G |
c.664G>C |
p.V222L |
Missense |
6/10 |
- |
1 |
7-44189374-C-T |
c.664G>A |
p.V222I |
Missense |
6/10 |
- |
2 |
7-44189375-C-A |
c.663G>T |
p.E221D |
Missense |
6/10 |
- |
1 |
7-44189375-C-G |
c.663G>C |
p.E221D |
Missense |
6/10 |
- |
1 |
7-44189375-CTC-AAA |
c.661_663delinsTTT |
p.E221F |
Missense |
6/10 |
- |
1 |
7-44189375-CTC-ACA |
c.661_663delinsTGT |
p.E221C |
Missense |
6/10 |
- |
1 |
7-44189375-CTC-ATA |
c.661_663delinsTAT |
p.E221Y |
Missense |
6/10 |
- |
1 |
7-44189375-CTC-ATG |
c.661_663delinsCAT |
p.E221H |
Missense |
6/10 |
- |
1 |
7-44189375-CTC-GAT |
c.661_663delinsATC |
p.E221I |
Missense |
6/10 |
- |
1 |
7-44189375-CTC-GTT |
c.661_663delinsAAC |
p.E221N |
Missense |
6/10 |
- |
1 |
7-44189376-T-A |
c.662A>T |
p.E221V |
Missense |
6/10 |
- |
1 |
7-44189376-T-C |
c.662A>G |
p.E221G |
Missense |
6/10 |
- |
1 |
7-44189376-TC-AG |
c.661_662delinsCT |
p.E221L |
Missense |
6/10 |
- |
1 |
7-44189376-TC-AT |
c.661_662delinsAT |
p.E221M |
Missense |
6/10 |
- |
1 |
7-44189376-TC-CA |
c.661_662delinsTG |
p.E221W |
Missense |
6/10 |
- |
1 |
7-44189376-TC-CT |
c.661_662delinsAG |
p.E221R |
Missense |
6/10 |
- |
1 |
7-44189376-TC-GA |
c.661_662inv |
p.E221S |
Missense |
6/10 |
- |
1 |
7-44189376-TC-GG |
c.661_662delinsCC |
p.E221P |
Missense |
6/10 |
- |
1 |
7-44189376-TC-GT |
c.661_662delinsAC |
p.E221T |
Missense |
6/10 |
- |
1 |
7-44189376-T-G |
c.662A>C |
p.E221A |
Missense |
6/10 |
- |
1 |
7-44189377-C-A |
c.661G>T |
p.E221* |
Nonsense |
6/10 |
- |
1 |
7-44189377-C-G |
c.661G>C |
p.E221Q |
Missense |
6/10 |
- |
1 |
7-44189377-C-T |
c.661G>A |
p.E221K |
Missense |
6/10 |
- |
23 |
7-44189378-G-A |
c.660C>T |
p.C220= |
Synonymous |
6/10 |
- |
2 |
7-44189378-G-C |
c.660C>G |
p.C220W |
Missense |
6/10 |
- |
1 |
7-44189378-GCA-CAT |
c.658_660delinsATG |
p.C220M |
Missense |
6/10 |
- |
1 |
7-44189378-GCA-CTC |
c.658_660delinsGAG |
p.C220E |
Missense |
6/10 |
- |
1 |
7-44189378-GCA-CTT |
c.658_660delinsAAG |
p.C220K |
Missense |
6/10 |
- |
1 |
7-44189378-GCA-TTG |
c.658_660delinsCAA |
p.C220Q |
Missense |
6/10 |
- |
1 |
7-44189378-G-T |
c.660C>A |
p.C220* |
Nonsense |
6/10 |
- |
7 |
7-44189379-C-A |
c.659G>T |
p.C220F |
Missense |
6/10 |
- |
1 |
7-44189379-CA-AC |
c.658_659delinsGT |
p.C220V |
Missense |
6/10 |
- |
1 |
7-44189379-CA-AG |
c.658_659delinsCT |
p.C220L |
Missense |
6/10 |
- |
1 |
7-44189379-CA-AT |
c.658_659delinsAT |
p.C220I |
Missense |
6/10 |
- |
1 |
7-44189379-CA-GC |
c.658_659delinsGC |
p.C220A |
Missense |
6/10 |
- |
1 |
7-44189379-CA-GG |
c.658_659delinsCC |
p.C220P |
Missense |
6/10 |
- |
1 |
7-44189379-CA-GT |
c.658_659delinsAC |
p.C220T |
Missense |
6/10 |
- |
1 |
7-44189379-CA-TC |
c.658_659delinsGA |
p.C220D |
Missense |
6/10 |
- |
1 |
7-44189379-CA-TG |
c.658_659inv |
p.C220H |
Missense |
6/10 |
- |
1 |
7-44189379-CA-TT |
c.658_659delinsAA |
p.C220N |
Missense |
6/10 |
- |
1 |
7-44189379-C-T |
c.659G>A |
p.C220Y |
Missense |
6/10 |
- |
9 |
7-44189379-C-G |
c.659G>C |
p.C220S |
Missense |
6/10 |
- |
4 |
7-44189380-A-C |
c.658T>G |
p.C220G |
Missense |
6/10 |
- |
1 |
7-44189380-A-G |
c.658T>C |
p.C220R |
Missense |
6/10 |
- |
6 |
7-44189380-A-T |
c.658T>A |
p.C220S |
Missense |
6/10 |
- |
5 |
7-44189381-C-A |
c.657G>T |
p.Q219H |
Missense |
6/10 |
- |
1 |
7-44189381-C-G |
c.657G>C |
p.Q219H |
Missense |
6/10 |
- |
1 |
7-44189381-CTG-AAA |
c.655_657delinsTTT |
p.Q219F |
Missense |
6/10 |
- |
1 |
7-44189381-CTG-ACA |
c.655_657delinsTGT |
p.Q219C |
Missense |
6/10 |
- |
1 |
7-44189381-CTG-ATA |
c.655_657delinsTAT |
p.Q219Y |
Missense |
6/10 |
- |
1 |
7-44189381-CTG-GAT |
c.655_657delinsATC |
p.Q219I |
Missense |
6/10 |
- |
1 |
7-44189381-CTG-GTC |
c.655_657delinsGAC |
p.Q219D |
Missense |
6/10 |
- |
1 |
7-44189381-CTG-GTT |
c.655_657delinsAAC |
p.Q219N |
Missense |
6/10 |
- |
1 |
7-44189382-T-A |
c.656A>T |
p.Q219L |
Missense |
6/10 |
- |
1 |
7-44189382-T-C |
c.656A>G |
p.Q219R |
Missense |
6/10 |
- |
1 |
7-44189382-T-G |
c.656A>C |
p.Q219P |
Missense |
6/10 |
- |
1 |
7-44189382-TG-AC |
c.655_656delinsGT |
p.Q219V |
Missense |
6/10 |
- |
1 |
7-44189382-TG-AT |
c.655_656delinsAT |
p.Q219M |
Missense |
6/10 |
- |
1 |
7-44189382-TG-CA |
c.655_656inv |
p.Q219W |
Missense |
6/10 |
- |
1 |
7-44189382-TG-CC |
c.655_656delinsGG |
p.Q219G |
Missense |
6/10 |
- |
1 |
7-44189382-TG-GA |
c.655_656delinsTC |
p.Q219S |
Missense |
6/10 |
- |
1 |
7-44189382-TG-GC |
c.655_656delinsGC |
p.Q219A |
Missense |
6/10 |
- |
1 |
7-44189382-TG-GT |
c.655_656delinsAC |
p.Q219T |
Missense |
6/10 |
- |
1 |
7-44189383-G-A |
c.655C>T |
p.Q219* |
Nonsense |
6/10 |
- |
1 |
7-44189383-G-C |
c.655C>G |
p.Q219E |
Missense |
6/10 |
- |
1 |
7-44189383-G-T |
c.655C>A |
p.Q219K |
Missense |
6/10 |
- |
1 |
7-44189384-A-C |
c.654T>G |
p.H218Q |
Missense |
6/10 |
- |
1 |
7-44189384-A-T |
c.654T>A |
p.H218Q |
Missense |
6/10 |
- |
2 |
7-44189384-ATG-CAT |
c.652_654inv |
p.H218M |
Missense |
6/10 |
- |
1 |
7-44189384-ATG-CCA |
c.652_654delinsTGG |
p.H218W |
Missense |
6/10 |
- |
1 |
7-44189384-ATG-CTC |
c.652_654delinsGAG |
p.H218E |
Missense |
6/10 |
- |
1 |
7-44189384-ATG-CTT |
c.652_654delinsAAG |
p.H218K |
Missense |
6/10 |
- |
1 |
7-44189385-T-A |
c.653A>T |
p.H218L |
Missense |
6/10 |
- |
1 |
7-44189385-T-C |
c.653A>G |
p.H218R |
Missense |
6/10 |
- |
1 |
7-44189385-T-G |
c.653A>C |
p.H218P |
Missense |
6/10 |
- |
1 |
7-44189385-TG-AA |
c.652_653delinsTT |
p.H218F |
Missense |
6/10 |
- |
1 |
7-44189385-TG-AC |
c.652_653delinsGT |
p.H218V |
Missense |
6/10 |
- |
1 |
7-44189385-TG-AT |
c.652_653delinsAT |
p.H218I |
Missense |
6/10 |
- |
1 |
7-44189385-TG-CA |
c.652_653inv |
p.H218C |
Missense |
6/10 |
- |
1 |
7-44189385-TG-CC |
c.652_653delinsGG |
p.H218G |
Missense |
6/10 |
- |
1 |
7-44189385-TG-CT |
c.652_653delinsAG |
p.H218S |
Missense |
6/10 |
- |
1 |
7-44189385-TG-GC |
c.652_653delinsGC |
p.H218A |
Missense |
6/10 |
- |
1 |
7-44189385-TG-GT |
c.652_653delinsAC |
p.H218T |
Missense |
6/10 |
- |
1 |
7-44189386-G-A |
c.652C>T |
p.H218Y |
Missense |
6/10 |
- |
1 |
7-44189386-G-C |
c.652C>G |
p.H218D |
Missense |
6/10 |
- |
1 |
7-44189386-G-T |
c.652C>A |
p.H218N |
Missense |
6/10 |
- |
1 |
7-44189387-G-C |
c.651C>G |
p.D217E |
Missense |
6/10 |
- |
2 |
7-44189387-G-T |
c.651C>A |
p.D217E |
Missense |
6/10 |
- |
3 |
7-44189387-GTC-CAT |
c.649_651delinsATG |
p.D217M |
Missense |
6/10 |
- |
1 |
7-44189387-GTC-CCA |
c.649_651delinsTGG |
p.D217W |
Missense |
6/10 |
- |
1 |
7-44189387-GTC-CTT |
c.649_651delinsAAG |
p.D217K |
Missense |
6/10 |
- |
1 |
7-44189387-GTC-TTG |
c.649_651delinsCAA |
p.D217Q |
Missense |
6/10 |
- |
1 |
7-44189388-T-A |
c.650A>T |
p.D217V |
Missense |
6/10 |
- |
1 |
7-44189388-T-C |
c.650A>G |
p.D217G |
Missense |
6/10 |
- |
1 |
7-44189388-TC-AA |
c.649_650delinsTT |
p.D217F |
Missense |
6/10 |
- |
1 |
7-44189388-TC-AG |
c.649_650delinsCT |
p.D217L |
Missense |
6/10 |
- |
1 |
7-44189388-TC-AT |
c.649_650delinsAT |
p.D217I |
Missense |
6/10 |
- |
1 |
7-44189388-TC-CA |
c.649_650delinsTG |
p.D217C |
Missense |
6/10 |
- |
1 |
7-44189388-TC-CG |
c.649_650delinsCG |
p.D217R |
Missense |
6/10 |
- |
1 |
7-44189388-TC-CT |
c.649_650delinsAG |
p.D217S |
Missense |
6/10 |
- |
1 |
7-44189388-TC-GG |
c.649_650delinsCC |
p.D217P |
Missense |
6/10 |
- |
1 |
7-44189388-TC-GT |
c.649_650delinsAC |
p.D217T |
Missense |
6/10 |
- |
1 |
7-44189388-T-G |
c.650A>C |
p.D217A |
Missense |
6/10 |
- |
1 |
7-44189389-C-A |
c.649G>T |
p.D217Y |
Missense |
6/10 |
- |
1 |
7-44189389-C-G |
c.649G>C |
p.D217H |
Missense |
6/10 |
- |
1 |
7-44189389-C-T |
c.649G>A |
p.D217N |
Missense |
6/10 |
- |
10 |
7-44189390-T-A |
c.648A>T |
p.E216D |
Missense |
6/10 |
- |
2 |
7-44189390-T-G |
c.648A>C |
p.E216D |
Missense |
6/10 |
- |
2 |
7-44189390-TTC-AAA |
c.646_648delinsTTT |
p.E216F |
Missense |
6/10 |
- |
1 |
7-44189390-TTC-ACA |
c.646_648delinsTGT |
p.E216C |
Missense |
6/10 |
- |
1 |
7-44189390-TTC-ATA |
c.646_648delinsTAT |
p.E216Y |
Missense |
6/10 |
- |
1 |
7-44189390-TTC-ATG |
c.646_648delinsCAT |
p.E216H |
Missense |
6/10 |
- |
1 |
7-44189390-TTC-CAT |
c.646_648delinsATG |
p.E216M |
Missense |
6/10 |
- |
1 |
7-44189390-TTC-CCA |
c.646_648delinsTGG |
p.E216W |
Missense |
6/10 |
- |
1 |
7-44189390-TTC-GTT |
c.646_648delinsAAC |
p.E216N |
Missense |
6/10 |
- |
1 |
7-44189391-T-A |
c.647A>T |
p.E216V |
Missense |
6/10 |
- |
4 |
7-44189391-T-C |
c.647A>G |
p.E216G |
Missense |
6/10 |
- |
1 |
7-44189391-TC-AG |
c.646_647delinsCT |
p.E216L |
Missense |
6/10 |
- |
1 |
7-44189391-TC-AT |
c.646_647delinsAT |
p.E216I |
Missense |
6/10 |
- |
1 |
7-44189391-TC-CT |
c.646_647delinsAG |
p.E216R |
Missense |
6/10 |
- |
1 |
7-44189391-TC-GA |
c.646_647inv |
p.E216S |
Missense |
6/10 |
- |
1 |
7-44189391-TC-GG |
c.646_647delinsCC |
p.E216P |
Missense |
6/10 |
- |
1 |
7-44189391-TC-GT |
c.646_647delinsAC |
p.E216T |
Missense |
6/10 |
- |
1 |
7-44189391-T-G |
c.647A>C |
p.E216A |
Missense |
6/10 |
- |
1 |
7-44189392-C-A |
c.646G>T |
p.E216* |
Nonsense |
6/10 |
- |
1 |
7-44189392-C-G |
c.646G>C |
p.E216Q |
Missense |
6/10 |
- |
1 |
7-44189392-C-T |
c.646G>A |
p.E216K |
Missense |
6/10 |
- |
5 |
7-44189393-G-A |
c.645C>T |
p.Y215= |
Synonymous |
6/10 |
- |
6 |
7-44189393-G-C |
c.645C>G |
p.Y215* |
Nonsense |
6/10 |
- |
5 |
7-44189393-G-T |
c.645C>A |
p.Y215* |
Nonsense |
6/10 |
- |
10 |
7-44189393-GTA-CAT |
c.643_645delinsATG |
p.Y215M |
Missense |
6/10 |
- |
1 |
7-44189393-GTA-CTC |
c.643_645delinsGAG |
p.Y215E |
Missense |
6/10 |
- |
1 |
7-44189393-GTA-CTT |
c.643_645delinsAAG |
p.Y215K |
Missense |
6/10 |
- |
1 |
7-44189393-GTA-TTG |
c.643_645delinsCAA |
p.Y215Q |
Missense |
6/10 |
- |
1 |
7-44189393-GT-CC |
c.644_645delinsGG |
p.Y215W |
Missense |
6/10 |
- |
1 |
7-44189394-T-A |
c.644A>T |
p.Y215F |
Missense |
6/10 |
- |
6 |
7-44189394-TA-AC |
c.643_644delinsGT |
p.Y215V |
Missense |
6/10 |
- |
1 |
7-44189394-TA-AG |
c.643_644delinsCT |
p.Y215L |
Missense |
6/10 |
- |
1 |
7-44189394-TA-AT |
c.643_644delinsAT |
p.Y215I |
Missense |
6/10 |
- |
1 |
7-44189394-TA-CC |
c.643_644delinsGG |
p.Y215G |
Missense |
6/10 |
- |
1 |
7-44189394-TA-CG |
c.643_644delinsCG |
p.Y215R |
Missense |
6/10 |
- |
1 |
7-44189394-TA-GC |
c.643_644delinsGC |
p.Y215A |
Missense |
6/10 |
- |
2 |
7-44189394-TA-GG |
c.643_644delinsCC |
p.Y215P |
Missense |
6/10 |
- |
1 |
7-44189394-TA-GT |
c.643_644delinsAC |
p.Y215T |
Missense |
6/10 |
- |
1 |
7-44189394-T-C |
c.644A>G |
p.Y215C |
Missense |
6/10 |
- |
1 |
7-44189394-T-G |
c.644A>C |
p.Y215S |
Missense |
6/10 |
- |
2 |
7-44189395-A-C |
c.643T>G |
p.Y215D |
Missense |
6/10 |
- |
1 |
7-44189395-A-G |
c.643T>C |
p.Y215H |
Missense |
6/10 |
- |
1 |
7-44189395-A-T |
c.643T>A |
p.Y215N |
Missense |
6/10 |
- |
1 |
7-44189396-G-A |
c.642C>T |
p.Y214= |
Synonymous |
6/10 |
- |
1 |
7-44189396-G-T |
c.642C>A |
p.Y214* |
Nonsense |
6/10 |
- |
1 |
7-44189396-GTA-CAT |
c.640_642delinsATG |
p.Y214M |
Missense |
6/10 |
- |
1 |
7-44189396-GTA-CTC |
c.640_642delinsGAG |
p.Y214E |
Missense |
6/10 |
- |
1 |
7-44189396-GTA-CTT |
c.640_642delinsAAG |
p.Y214K |
Missense |
6/10 |
- |
1 |
7-44189396-GTA-TTG |
c.640_642delinsCAA |
p.Y214Q |
Missense |
6/10 |
- |
1 |
7-44189396-GT-CC |
c.641_642delinsGG |
p.Y214W |
Missense |
6/10 |
- |
1 |
7-44189396-G-GT |
c.641dup |
p.Y214* |
Nonsense |
6/10 |
- |
3 |
7-44189397-T-A |
c.641A>T |
p.Y214F |
Missense |
6/10 |
- |
3 |
7-44189397-TA-AC |
c.640_641delinsGT |
p.Y214V |
Missense |
6/10 |
- |
1 |
7-44189397-TA-AG |
c.640_641delinsCT |
p.Y214L |
Missense |
6/10 |
- |
1 |
7-44189397-TA-AT |
c.640_641delinsAT |
p.Y214I |
Missense |
6/10 |
- |
1 |
7-44189397-TA-CC |
c.640_641delinsGG |
p.Y214G |
Missense |
6/10 |
- |
1 |
7-44189397-TA-CG |
c.640_641delinsCG |
p.Y214R |
Missense |
6/10 |
- |
1 |
7-44189397-TA-GC |
c.640_641delinsGC |
p.Y214A |
Missense |
6/10 |
- |
3 |
7-44189397-TA-GG |
c.640_641delinsCC |
p.Y214P |
Missense |
6/10 |
- |
1 |
7-44189397-TA-GT |
c.640_641delinsAC |
p.Y214T |
Missense |
6/10 |
- |
1 |
7-44189397-T-C |
c.641A>G |
p.Y214C |
Missense |
6/10 |
- |
19 |
7-44189397-T-G |
c.641A>C |
p.Y214S |
Missense |
6/10 |
- |
2 |
7-44189398-A-C |
c.640T>G |
p.Y214D |
Missense |
6/10 |
- |
3 |
7-44189398-A-G |
c.640T>C |
p.Y214H |
Missense |
6/10 |
- |
1 |
7-44189398-A-T |
c.640T>A |
p.Y214N |
Missense |
6/10 |
- |
1 |
7-44189399-G-A |
c.639C>T |
p.C213= |
Synonymous |
6/10 |
- |
1 |
7-44189399-G-C |
c.639C>G |
p.C213W |
Missense |
6/10 |
- |
1 |
7-44189399-GCA-CAT |
c.637_639delinsATG |
p.C213M |
Missense |
6/10 |
- |
1 |
7-44189399-GCA-CTC |
c.637_639delinsGAG |
p.C213E |
Missense |
6/10 |
- |
1 |
7-44189399-GCA-CTT |
c.637_639delinsAAG |
p.C213K |
Missense |
6/10 |
- |
1 |
7-44189399-GCA-TTG |
c.637_639delinsCAA |
p.C213Q |
Missense |
6/10 |
- |
1 |
7-44189400-C-A |
c.638G>T |
p.C213F |
Missense |
6/10 |
- |
1 |
7-44189400-CA-AC |
c.637_638delinsGT |
p.C213V |
Missense |
6/10 |
- |
1 |
7-44189400-CA-AG |
c.637_638delinsCT |
p.C213L |
Missense |
6/10 |
- |
1 |
7-44189400-CA-AT |
c.637_638delinsAT |
p.C213I |
Missense |
6/10 |
- |
1 |
7-44189400-CA-GC |
c.637_638delinsGC |
p.C213A |
Missense |
6/10 |
- |
1 |
7-44189400-CA-GG |
c.637_638delinsCC |
p.C213P |
Missense |
6/10 |
- |
1 |
7-44189400-CA-GT |
c.637_638delinsAC |
p.C213T |
Missense |
6/10 |
- |
1 |
7-44189400-CA-TC |
c.637_638delinsGA |
p.C213D |
Missense |
6/10 |
- |
1 |
7-44189400-CA-TG |
c.637_638inv |
p.C213H |
Missense |
6/10 |
- |
1 |
7-44189400-CA-TT |
c.637_638delinsAA |
p.C213N |
Missense |
6/10 |
- |
1 |
7-44189400-C-T |
c.638G>A |
p.C213Y |
Missense |
6/10 |
- |
3 |
7-44189400-C-G |
c.638G>C |
p.C213S |
Missense |
6/10 |
- |
1 |
7-44189401-A-C |
c.637T>G |
p.C213G |
Missense |
6/10 |
- |
1 |
7-44189401-A-G |
c.637T>C |
p.C213R |
Missense |
6/10 |
- |
8 |
7-44189401-A-T |
c.637T>A |
p.C213S |
Missense |
6/10 |
- |
1 |
7-44189402-GGA-CAT |
c.634_636delinsATG |
p.S212M |
Missense |
6/10 |
- |
1 |
7-44189402-GGA-CTC |
c.634_636delinsGAG |
p.S212E |
Missense |
6/10 |
- |
1 |
7-44189402-GGA-CTT |
c.634_636delinsAAG |
p.S212K |
Missense |
6/10 |
- |
1 |
7-44189402-GGA-TTG |
c.634_636delinsCAA |
p.S212Q |
Missense |
6/10 |
- |
1 |
7-44189402-GG-CC |
c.635_636inv |
p.S212W |
Missense |
6/10 |
- |
1 |
7-44189400-CAGG-C |
c.635_637del |
p.S212del |
InFrameDeletion |
6/10 |
- |
4 |
7-44189403-G-A |
c.635C>T |
p.S212F |
Missense |
6/10 |
- |
2 |
7-44189403-GA-AC |
c.634_635delinsGT |
p.S212V |
Missense |
6/10 |
- |
1 |
7-44189403-GA-AG |
c.634_635delinsCT |
p.S212L |
Missense |
6/10 |
- |
1 |
7-44189403-GA-AT |
c.634_635delinsAT |
p.S212I |
Missense |
6/10 |
- |
1 |
7-44189403-GA-CC |
c.634_635delinsGG |
p.S212G |
Missense |
6/10 |
- |
1 |
7-44189403-GA-CG |
c.634_635delinsCG |
p.S212R |
Missense |
6/10 |
- |
1 |
7-44189403-GA-TC |
c.634_635inv |
p.S212D |
Missense |
6/10 |
- |
1 |
7-44189403-GA-TG |
c.634_635delinsCA |
p.S212H |
Missense |
6/10 |
- |
1 |
7-44189403-GA-TT |
c.634_635delinsAA |
p.S212N |
Missense |
6/10 |
- |
1 |
7-44189403-G-C |
c.635C>G |
p.S212C |
Missense |
6/10 |
- |
1 |
7-44189403-G-T |
c.635C>A |
p.S212Y |
Missense |
6/10 |
- |
1 |
7-44189404-A-C |
c.634T>G |
p.S212A |
Missense |
6/10 |
- |
1 |
7-44189404-A-G |
c.634T>C |
p.S212P |
Missense |
6/10 |
- |
2 |
7-44189404-A-T |
c.634T>A |
p.S212T |
Missense |
6/10 |
- |
1 |
7-44189405-GA-CC |
c.632_633delinsGG |
p.I211R |
Missense |
6/10 |
- |
1 |
7-44189405-GA-CT |
c.632_633delinsAG |
p.I211K |
Missense |
6/10 |
- |
1 |
7-44189405-GAT-CCA |
c.631_633delinsTGG |
p.I211W |
Missense |
6/10 |
- |
1 |
7-44189405-GAT-CTC |
c.631_633delinsGAG |
p.I211E |
Missense |
6/10 |
- |
1 |
7-44189405-GAT-TTG |
c.631_633delinsCAA |
p.I211Q |
Missense |
6/10 |
- |
1 |
7-44189405-G-C |
c.633C>G |
p.I211M |
Missense |
6/10 |
- |
1 |
7-44189406-A-C |
c.632T>G |
p.I211S |
Missense |
6/10 |
- |
1 |
7-44189406-A-G |
c.632T>C |
p.I211T |
Missense |
6/10 |
- |
1 |
7-44189406-A-T |
c.632T>A |
p.I211N |
Missense |
6/10 |
- |
2 |
7-44189406-AT-CA |
c.631_632delinsTG |
p.I211C |
Missense |
6/10 |
- |
1 |
7-44189406-AT-CC |
c.631_632delinsGG |
p.I211G |
Missense |
6/10 |
- |
1 |
7-44189406-AT-GC |
c.631_632delinsGC |
p.I211A |
Missense |
6/10 |
- |
1 |
7-44189406-AT-GG |
c.631_632delinsCC |
p.I211P |
Missense |
6/10 |
- |
1 |
7-44189406-AT-TA |
c.631_632delinsTA |
p.I211Y |
Missense |
6/10 |
- |
1 |
7-44189406-AT-TC |
c.631_632delinsGA |
p.I211D |
Missense |
6/10 |
- |
1 |
7-44189406-AT-TG |
c.631_632delinsCA |
p.I211H |
Missense |
6/10 |
- |
1 |
7-44189407-T-A |
c.631A>T |
p.I211F |
Missense |
6/10 |
- |
5 |
7-44189407-T-C |
c.631A>G |
p.I211V |
Missense |
6/10 |
- |
3 |
7-44189407-T-G |
c.631A>C |
p.I211L |
Missense |
6/10 |
- |
1 |
7-44189408-C-A |
c.630G>T |
p.M210I |
Missense |
6/10 |
- |
3 |
7-44189408-CA-GC |
c.629_630delinsGC |
p.M210S |
Missense |
6/10 |
- |
1 |
7-44189408-CA-GT |
c.629_630delinsAC |
p.M210N |
Missense |
6/10 |
- |
1 |
7-44189408-CAT-AAA |
c.628_630delinsTTT |
p.M210F |
Missense |
6/10 |
- |
1 |
7-44189408-CAT-ACA |
c.628_630delinsTGT |
p.M210C |
Missense |
6/10 |
- |
1 |
7-44189408-CAT-ATA |
c.628_630delinsTAT |
p.M210Y |
Missense |
6/10 |
- |
1 |
7-44189408-CAT-ATG |
c.628_630inv |
p.M210H |
Missense |
6/10 |
- |
1 |
7-44189408-CAT-GTC |
c.628_630delinsGAC |
p.M210D |
Missense |
6/10 |
- |
1 |
7-44189408-C-G |
c.630G>C |
p.M210I |
Missense |
6/10 |
- |
1 |
7-44189408-C-T |
c.630G>A |
p.M210I |
Missense |
6/10 |
- |
5 |
7-44189409-A-C |
c.629T>G |
p.M210R |
Missense |
6/10 |
- |
1 |
7-44189409-A-G |
c.629T>C |
p.M210T |
Missense |
6/10 |
- |
8 |
7-44189409-A-T |
c.629T>A |
p.M210K |
Missense |
6/10 |
- |
10 |
7-44189409-AT-CA |
c.628_629delinsTG |
p.M210W |
Missense |
6/10 |
- |
1 |
7-44189409-AT-CC |
c.628_629delinsGG |
p.M210G |
Missense |
6/10 |
- |
1 |
7-44189409-AT-GC |
c.628_629delinsGC |
p.M210A |
Missense |
6/10 |
- |
1 |
7-44189409-AT-GG |
c.628_629delinsCC |
p.M210P |
Missense |
6/10 |
- |
1 |
7-44189409-AT-TC |
c.628_629delinsGA |
p.M210E |
Missense |
6/10 |
- |
1 |
7-44189409-AT-TG |
c.628_629delinsCA |
p.M210Q |
Missense |
6/10 |
- |
1 |
7-44189410-T-A |
c.628A>T |
p.M210L |
Missense |
6/10 |
- |
1 |
7-44189410-T-C |
c.628A>G |
p.M210V |
Missense |
6/10 |
- |
1 |
7-44189410-T-G |
c.628A>C |
p.M210L |
Missense |
6/10 |
- |
1 |
7-44189411-CG-GA |
c.626_627delinsTC |
p.T209I |
Missense |
6/10 |
- |
1 |
7-44189411-CG-GT |
c.626_627delinsAC |
p.T209N |
Missense |
6/10 |
- |
2 |
7-44189411-CGT-AAA |
c.625_627delinsTTT |
p.T209F |
Missense |
6/10 |
- |
1 |
7-44189411-CGT-ACA |
c.625_627delinsTGT |
p.T209C |
Missense |
6/10 |
- |
1 |
7-44189411-CGT-ATA |
c.625_627delinsTAT |
p.T209Y |
Missense |
6/10 |
- |
1 |
7-44189411-CGT-ATG |
c.625_627delinsCAT |
p.T209H |
Missense |
6/10 |
- |
1 |
7-44189411-CGT-GTC |
c.625_627delinsGAC |
p.T209D |
Missense |
6/10 |
- |
1 |
7-44189412-G-A |
c.626C>T |
p.T209M |
Missense |
6/10 |
- |
13 |
7-44189412-G-C |
c.626C>G |
p.T209R |
Missense |
6/10 |
- |
4 |
7-44189412-G-T |
c.626C>A |
p.T209K |
Missense |
6/10 |
- |
2 |
7-44189412-GT-AC |
c.625_626inv |
p.T209V |
Missense |
6/10 |
- |
1 |
7-44189412-GT-AG |
c.625_626delinsCT |
p.T209L |
Missense |
6/10 |
- |
1 |
7-44189412-GT-CA |
c.625_626delinsTG |
p.T209W |
Missense |
6/10 |
- |
1 |
7-44189412-GT-CC |
c.625_626delinsGG |
p.T209G |
Missense |
6/10 |
- |
1 |
7-44189412-GT-TC |
c.625_626delinsGA |
p.T209E |
Missense |
6/10 |
- |
1 |
7-44189412-GT-TG |
c.625_626delinsCA |
p.T209Q |
Missense |
6/10 |
- |
1 |
7-44189413-T-A |
c.625A>T |
p.T209S |
Missense |
6/10 |
- |
1 |
7-44189413-T-C |
c.625A>G |
p.T209A |
Missense |
6/10 |
- |
1 |
7-44189413-T-G |
c.625A>C |
p.T209P |
Missense |
6/10 |
- |
2 |
7-44189414-G-A |
c.624C>T |
p.A208= |
Synonymous |
6/10 |
- |
1 |
7-44189414-GGC-CAT |
c.622_624delinsATG |
p.A208M |
Missense |
6/10 |
- |
1 |
7-44189414-GGC-CCA |
c.622_624delinsTGG |
p.A208W |
Missense |
6/10 |
- |
1 |
7-44189414-GGC-CTT |
c.622_624delinsAAG |
p.A208K |
Missense |
6/10 |
- |
1 |
7-44189414-GG-CT |
c.623_624delinsAG |
p.A208E |
Missense |
6/10 |
- |
1 |
7-44189414-GGC-TTG |
c.622_624delinsCAA |
p.A208Q |
Missense |
6/10 |
- |
1 |
7-44189415-G-A |
c.623C>T |
p.A208V |
Missense |
6/10 |
- |
7 |
7-44189415-G-C |
c.623C>G |
p.A208G |
Missense |
6/10 |
- |
3 |
7-44189415-GC-AA |
c.622_623delinsTT |
p.A208F |
Missense |
6/10 |
- |
1 |
7-44189415-GC-AG |
c.622_623delinsCT |
p.A208L |
Missense |
6/10 |
- |
1 |
7-44189415-GC-AT |
c.622_623delinsAT |
p.A208I |
Missense |
6/10 |
- |
1 |
7-44189415-GC-CA |
c.622_623delinsTG |
p.A208C |
Missense |
6/10 |
- |
1 |
7-44189415-GC-CG |
c.622_623delinsCG |
p.A208R |
Missense |
6/10 |
- |
1 |
7-44189415-GC-TA |
c.622_623delinsTA |
p.A208Y |
Missense |
6/10 |
- |
1 |
7-44189415-GC-TG |
c.622_623delinsCA |
p.A208H |
Missense |
6/10 |
- |
1 |
7-44189415-GC-TT |
c.622_623delinsAA |
p.A208N |
Missense |
6/10 |
- |
1 |
7-44189415-G-T |
c.623C>A |
p.A208D |
Missense |
6/10 |
- |
1 |
7-44189416-C-A |
c.622G>T |
p.A208S |
Missense |
6/10 |
- |
2 |
7-44189416-C-G |
c.622G>C |
p.A208P |
Missense |
6/10 |
- |
2 |
7-44189416-C-T |
c.622G>A |
p.A208T |
Missense |
6/10 |
- |
8 |
7-44189417-CAC-AAA |
c.619_621delinsTTT |
p.V207F |
Missense |
6/10 |
- |
1 |
7-44189417-CAC-ACA |
c.619_621delinsTGT |
p.V207C |
Missense |
6/10 |
- |
1 |
7-44189417-CAC-ATA |
c.619_621delinsTAT |
p.V207Y |
Missense |
6/10 |
- |
1 |
7-44189417-CAC-ATG |
c.619_621delinsCAT |
p.V207H |
Missense |
6/10 |
- |
1 |
7-44189417-CAC-GAT |
c.619_621delinsATC |
p.V207I |
Missense |
6/10 |
- |
1 |
7-44189417-CAC-GTT |
c.619_621delinsAAC |
p.V207N |
Missense |
6/10 |
- |
1 |
7-44189417-CA-GT |
c.620_621delinsAC |
p.V207D |
Missense |
6/10 |
- |
1 |
7-44189417-C-T |
c.621G>A |
p.V207= |
Synonymous |
6/10 |
- |
1 |
7-44189418-A-C |
c.620T>G |
p.V207G |
Missense |
6/10 |
- |
1 |
7-44189418-AC-CA |
c.619_620delinsTG |
p.V207W |
Missense |
6/10 |
- |
1 |
7-44189418-AC-CT |
c.619_620delinsAG |
p.V207R |
Missense |
6/10 |
- |
1 |
7-44189418-AC-GA |
c.619_620delinsTC |
p.V207S |
Missense |
6/10 |
- |
1 |
7-44189418-AC-GG |
c.619_620delinsCC |
p.V207P |
Missense |
6/10 |
- |
1 |
7-44189418-AC-GT |
c.619_620inv |
p.V207T |
Missense |
6/10 |
- |
1 |
7-44189418-AC-TG |
c.619_620delinsCA |
p.V207Q |
Missense |
6/10 |
- |
1 |
7-44189418-AC-TT |
c.619_620delinsAA |
p.V207K |
Missense |
6/10 |
- |
1 |
7-44189418-A-G |
c.620T>C |
p.V207A |
Missense |
6/10 |
- |
1 |
7-44189418-A-T |
c.620T>A |
p.V207E |
Missense |
6/10 |
- |
2 |
7-44189419-C-A |
c.619G>T |
p.V207L |
Missense |
6/10 |
- |
3 |
7-44189419-C-G |
c.619G>C |
p.V207L |
Missense |
6/10 |
- |
1 |
7-44189419-C-T |
c.619G>A |
p.V207M |
Missense |
6/10 |
- |
1 |
7-44189420-CG-GA |
c.617_618delinsTC |
p.T206I |
Missense |
6/10 |
- |
1 |
7-44189420-CG-GT |
c.617_618delinsAC |
p.T206N |
Missense |
6/10 |
- |
1 |
7-44189420-CGT-AAA |
c.616_618delinsTTT |
p.T206F |
Missense |
6/10 |
- |
1 |
7-44189420-CGT-ACA |
c.616_618delinsTGT |
p.T206C |
Missense |
6/10 |
- |
1 |
7-44189420-CGT-ATA |
c.616_618delinsTAT |
p.T206Y |
Missense |
6/10 |
- |
1 |
7-44189420-CGT-ATG |
c.616_618delinsCAT |
p.T206H |
Missense |
6/10 |
- |
1 |
7-44189420-CGT-GTC |
c.616_618delinsGAC |
p.T206D |
Missense |
6/10 |
- |
1 |
7-44189420-C-T |
c.618G>A |
p.T206= |
Synonymous |
6/10 |
- |
3 |
7-44189421-G-A |
c.617C>T |
p.T206M |
Missense |
6/10 |
- |
15 |
7-44189421-G-C |
c.617C>G |
p.T206R |
Missense |
6/10 |
- |
4 |
7-44189421-G-T |
c.617C>A |
p.T206K |
Missense |
6/10 |
- |
1 |
7-44189421-GT-AC |
c.616_617inv |
p.T206V |
Missense |
6/10 |
- |
1 |
7-44189421-GT-AG |
c.616_617delinsCT |
p.T206L |
Missense |
6/10 |
- |
1 |
7-44189421-GT-CA |
c.616_617delinsTG |
p.T206W |
Missense |
6/10 |
- |
1 |
7-44189421-GT-CC |
c.616_617delinsGG |
p.T206G |
Missense |
6/10 |
- |
1 |
7-44189421-GT-TC |
c.616_617delinsGA |
p.T206E |
Missense |
6/10 |
- |
1 |
7-44189421-GT-TG |
c.616_617delinsCA |
p.T206Q |
Missense |
6/10 |
- |
1 |
7-44189422-T-A |
c.616A>T |
p.T206S |
Missense |
6/10 |
- |
1 |
7-44189422-T-C |
c.616A>G |
p.T206A |
Missense |
6/10 |
- |
1 |
7-44189422-T-G |
c.616A>C |
p.T206P |
Missense |
6/10 |
- |
10 |
7-44189423-G-C |
c.615C>G |
p.D205E |
Missense |
6/10 |
- |
5 |
7-44189423-G-T |
c.615C>A |
p.D205E |
Missense |
6/10 |
- |
2 |
7-44189423-GTC-CAT |
c.613_615delinsATG |
p.D205M |
Missense |
6/10 |
- |
1 |
7-44189423-GTC-CCA |
c.613_615delinsTGG |
p.D205W |
Missense |
6/10 |
- |
1 |
7-44189423-GTC-CTT |
c.613_615delinsAAG |
p.D205K |
Missense |
6/10 |
- |
1 |
7-44189423-GTC-TTG |
c.613_615delinsCAA |
p.D205Q |
Missense |
6/10 |
- |
1 |
7-44189423-G-GT |
c.614dup |
p.D205Efs*70 |
Frameshift |
6/10 |
- |
1 |
7-44189424-T-A |
c.614A>T |
p.D205V |
Missense |
6/10 |
- |
1 |
7-44189424-T-C |
c.614A>G |
p.D205G |
Missense |
6/10 |
- |
1 |
7-44189424-TC-AA |
c.613_614delinsTT |
p.D205F |
Missense |
6/10 |
- |
1 |
7-44189424-TC-AG |
c.613_614delinsCT |
p.D205L |
Missense |
6/10 |
- |
1 |
7-44189424-TC-AT |
c.613_614delinsAT |
p.D205I |
Missense |
6/10 |
- |
1 |
7-44189424-TC-CA |
c.613_614delinsTG |
p.D205C |
Missense |
6/10 |
- |
1 |
7-44189424-TC-CG |
c.613_614delinsCG |
p.D205R |
Missense |
6/10 |
- |
1 |
7-44189424-TC-CT |
c.613_614delinsAG |
p.D205S |
Missense |
6/10 |
- |
1 |
7-44189424-TC-GG |
c.613_614delinsCC |
p.D205P |
Missense |
6/10 |
- |
1 |
7-44189424-TC-GT |
c.613_614delinsAC |
p.D205T |
Missense |
6/10 |
- |
1 |
7-44189424-T-G |
c.614A>C |
p.D205A |
Missense |
6/10 |
- |
1 |
7-44189425-C-A |
c.613G>T |
p.D205Y |
Missense |
6/10 |
- |
3 |
7-44189425-C-G |
c.613G>C |
p.D205H |
Missense |
6/10 |
- |
4 |
7-44189425-C-T |
c.613G>A |
p.D205N |
Missense |
6/10 |
- |
5 |
7-44189426-A-C |
c.612T>G |
p.N204K |
Missense |
6/10 |
- |
1 |
7-44189426-A-T |
c.612T>A |
p.N204K |
Missense |
6/10 |
- |
1 |
7-44189426-AT-CA |
c.611_612delinsTG |
p.N204M |
Missense |
6/10 |
- |
1 |
7-44189426-AT-CC |
c.611_612delinsGG |
p.N204R |
Missense |
6/10 |
- |
1 |
7-44189426-ATT-CCA |
c.610_612delinsTGG |
p.N204W |
Missense |
6/10 |
- |
1 |
7-44189426-ATT-CTC |
c.610_612delinsGAG |
p.N204E |
Missense |
6/10 |
- |
1 |
7-44189426-ATT-TTG |
c.610_612delinsCAA |
p.N204Q |
Missense |
6/10 |
- |
1 |
7-44189427-T-A |
c.611A>T |
p.N204I |
Missense |
6/10 |
- |
1 |
7-44189427-T-C |
c.611A>G |
p.N204S |
Missense |
6/10 |
- |
1 |
7-44189427-T-G |
c.611A>C |
p.N204T |
Missense |
6/10 |
- |
1 |
7-44189427-TT-AA |
c.610_611inv |
p.N204F |
Missense |
6/10 |
- |
1 |
7-44189427-TT-AC |
c.610_611delinsGT |
p.N204V |
Missense |
6/10 |
- |
1 |
7-44189427-TT-AG |
c.610_611delinsCT |
p.N204L |
Missense |
6/10 |
- |
1 |
7-44189427-TT-CA |
c.610_611delinsTG |
p.N204C |
Missense |
6/10 |
- |
1 |
7-44189427-TT-CC |
c.610_611delinsGG |
p.N204G |
Missense |
6/10 |
- |
1 |
7-44189427-TT-GC |
c.610_611delinsGC |
p.N204A |
Missense |
6/10 |
- |
4 |
7-44189427-TT-GG |
c.610_611delinsCC |
p.N204P |
Missense |
6/10 |
- |
1 |
7-44189428-T-A |
c.610A>T |
p.N204Y |
Missense |
6/10 |
- |
2 |
7-44189428-T-C |
c.610A>G |
p.N204D |
Missense |
6/10 |
- |
2 |
7-44189428-T-G |
c.610A>C |
p.N204H |
Missense |
6/10 |
- |
1 |
7-44189429-C-A |
c.609G>T |
p.V203= |
Synonymous |
6/10 |
- |
2 |
7-44189429-CAC-AAA |
c.607_609delinsTTT |
p.V203F |
Missense |
6/10 |
- |
1 |
7-44189429-CAC-ACA |
c.607_609delinsTGT |
p.V203C |
Missense |
6/10 |
- |
1 |
7-44189429-CAC-ATA |
c.607_609delinsTAT |
p.V203Y |
Missense |
6/10 |
- |
1 |
7-44189429-CAC-ATG |
c.607_609delinsCAT |
p.V203H |
Missense |
6/10 |
- |
1 |
7-44189429-CAC-GAT |
c.607_609delinsATC |
p.V203I |
Missense |
6/10 |
- |
1 |
7-44189429-CAC-GTT |
c.607_609delinsAAC |
p.V203N |
Missense |
6/10 |
- |
1 |
7-44189429-CA-GT |
c.608_609delinsAC |
p.V203D |
Missense |
6/10 |
- |
1 |
7-44189429-C-G |
c.609G>C |
p.V203= |
Synonymous |
6/10 |
- |
1 |
7-44189429-C-T |
c.609G>A |
p.V203= |
Synonymous |
6/10 |
- |
1 |
7-44189430-A-C |
c.608T>G |
p.V203G |
Missense |
6/10 |
- |
1 |
7-44189430-AC-CA |
c.607_608delinsTG |
p.V203W |
Missense |
6/10 |
- |
1 |
7-44189430-AC-CT |
c.607_608delinsAG |
p.V203R |
Missense |
6/10 |
- |
1 |
7-44189430-AC-GA |
c.607_608delinsTC |
p.V203S |
Missense |
6/10 |
- |
1 |
7-44189430-AC-GG |
c.607_608delinsCC |
p.V203P |
Missense |
6/10 |
- |
1 |
7-44189430-AC-GT |
c.607_608inv |
p.V203T |
Missense |
6/10 |
- |
1 |
7-44189430-AC-TG |
c.607_608delinsCA |
p.V203Q |
Missense |
6/10 |
- |
1 |
7-44189430-AC-TT |
c.607_608delinsAA |
p.V203K |
Missense |
6/10 |
- |
1 |
7-44189430-A-G |
c.608T>C |
p.V203A |
Missense |
6/10 |
- |
8 |
7-44189430-A-T |
c.608T>A |
p.V203E |
Missense |
6/10 |
- |
3 |
7-44189431-C-A |
c.607G>T |
p.V203L |
Missense |
6/10 |
- |
1 |
7-44189431-C-G |
c.607G>C |
p.V203L |
Missense |
6/10 |
- |
1 |
7-44189431-C-T |
c.607G>A |
p.V203M |
Missense |
6/10 |
- |
2 |
7-44189432-C-A |
c.606G>T |
p.M202I |
Missense |
6/10 |
- |
1 |
7-44189432-CA-GC |
c.605_606delinsGC |
p.M202S |
Missense |
6/10 |
- |
1 |
7-44189432-CA-GT |
c.605_606delinsAC |
p.M202N |
Missense |
6/10 |
- |
1 |
7-44189432-CAT-AAA |
c.604_606delinsTTT |
p.M202F |
Missense |
6/10 |
- |
1 |
7-44189432-CAT-ACA |
c.604_606delinsTGT |
p.M202C |
Missense |
6/10 |
- |
1 |
7-44189432-CAT-ATA |
c.604_606delinsTAT |
p.M202Y |
Missense |
6/10 |
- |
1 |
7-44189432-CAT-ATG |
c.604_606inv |
p.M202H |
Missense |
6/10 |
- |
1 |
7-44189432-CAT-GTC |
c.604_606delinsGAC |
p.M202D |
Missense |
6/10 |
- |
1 |
7-44189432-C-G |
c.606G>C |
p.M202I |
Missense |
6/10 |
- |
1 |
7-44189432-C-T |
c.606G>A |
p.M202I |
Missense |
6/10 |
- |
1 |
7-44189433-A-C |
c.605T>G |
p.M202R |
Missense |
6/10 |
- |
2 |
7-44189433-A-G |
c.605T>C |
p.M202T |
Missense |
6/10 |
- |
6 |
7-44189433-A-T |
c.605T>A |
p.M202K |
Missense |
6/10 |
- |
1 |
7-44189433-AT-CA |
c.604_605delinsTG |
p.M202W |
Missense |
6/10 |
- |
1 |
7-44189433-AT-CC |
c.604_605delinsGG |
p.M202G |
Missense |
6/10 |
- |
1 |
7-44189433-AT-GC |
c.604_605delinsGC |
p.M202A |
Missense |
6/10 |
- |
1 |
7-44189433-AT-GG |
c.604_605delinsCC |
p.M202P |
Missense |
6/10 |
- |
1 |
7-44189433-AT-TC |
c.604_605delinsGA |
p.M202E |
Missense |
6/10 |
- |
1 |
7-44189433-AT-TG |
c.604_605delinsCA |
p.M202Q |
Missense |
6/10 |
- |
1 |
7-44189434-T-A |
c.604A>T |
p.M202L |
Missense |
6/10 |
- |
1 |
7-44189434-T-C |
c.604A>G |
p.M202V |
Missense |
6/10 |
- |
4 |
7-44189434-T-G |
c.604A>C |
p.M202L |
Missense |
6/10 |
- |
1 |
7-44189435-TGC-AAA |
c.601_603delinsTTT |
p.A201F |
Missense |
6/10 |
- |
1 |
7-44189435-TGC-ACA |
c.601_603delinsTGT |
p.A201C |
Missense |
6/10 |
- |
1 |
7-44189435-TGC-ATA |
c.601_603delinsTAT |
p.A201Y |
Missense |
6/10 |
- |
1 |
7-44189435-TGC-ATG |
c.601_603delinsCAT |
p.A201H |
Missense |
6/10 |
- |
1 |
7-44189435-TGC-CAT |
c.601_603delinsATG |
p.A201M |
Missense |
6/10 |
- |
1 |
7-44189435-TGC-CCA |
c.601_603delinsTGG |
p.A201W |
Missense |
6/10 |
- |
1 |
7-44189435-TGC-GTT |
c.601_603delinsAAC |
p.A201N |
Missense |
6/10 |
- |
1 |
7-44189435-TG-GT |
c.602_603delinsAC |
p.A201D |
Missense |
6/10 |
- |
1 |
7-44189436-G-A |
c.602C>T |
p.A201V |
Missense |
6/10 |
- |
2 |
7-44189436-G-C |
c.602C>G |
p.A201G |
Missense |
6/10 |
- |
1 |
7-44189436-GC-AG |
c.601_602delinsCT |
p.A201L |
Missense |
6/10 |
- |
1 |
7-44189436-GC-AT |
c.601_602delinsAT |
p.A201I |
Missense |
6/10 |
- |
1 |
7-44189436-GC-CT |
c.601_602delinsAG |
p.A201R |
Missense |
6/10 |
- |
1 |
7-44189436-GC-TG |
c.601_602delinsCA |
p.A201Q |
Missense |
6/10 |
- |
1 |
7-44189436-GC-TT |
c.601_602delinsAA |
p.A201K |
Missense |
6/10 |
- |
1 |
7-44189436-G-T |
c.602C>A |
p.A201E |
Missense |
6/10 |
- |
1 |
7-44189437-C-A |
c.601G>T |
p.A201S |
Missense |
6/10 |
- |
4 |
7-44189437-C-G |
c.601G>C |
p.A201P |
Missense |
6/10 |
- |
4 |
7-44189437-C-T |
c.601G>A |
p.A201T |
Missense |
6/10 |
- |
2 |
7-44189438-CAC-AAA |
c.598_600delinsTTT |
p.V200F |
Missense |
6/10 |
- |
1 |
7-44189438-CAC-ACA |
c.598_600delinsTGT |
p.V200C |
Missense |
6/10 |
- |
1 |
7-44189438-CAC-ATA |
c.598_600delinsTAT |
p.V200Y |
Missense |
6/10 |
- |
1 |
7-44189438-CAC-ATG |
c.598_600delinsCAT |
p.V200H |
Missense |
6/10 |
- |
1 |
7-44189438-CAC-GAT |
c.598_600delinsATC |
p.V200I |
Missense |
6/10 |
- |
1 |
7-44189438-CAC-GTT |
c.598_600delinsAAC |
p.V200N |
Missense |
6/10 |
- |
1 |
7-44189438-CA-GT |
c.599_600delinsAC |
p.V200D |
Missense |
6/10 |
- |
1 |
7-44189438-C-T |
c.600G>A |
p.V200= |
Synonymous |
6/10 |
- |
1 |
7-44189439-A-C |
c.599T>G |
p.V200G |
Missense |
6/10 |
- |
1 |
7-44189439-AC-CA |
c.598_599delinsTG |
p.V200W |
Missense |
6/10 |
- |
1 |
7-44189439-AC-CT |
c.598_599delinsAG |
p.V200R |
Missense |
6/10 |
- |
1 |
7-44189439-AC-GA |
c.598_599delinsTC |
p.V200S |
Missense |
6/10 |
- |
1 |
7-44189439-AC-GG |
c.598_599delinsCC |
p.V200P |
Missense |
6/10 |
- |
1 |
7-44189439-AC-GT |
c.598_599inv |
p.V200T |
Missense |
6/10 |
- |
1 |
7-44189439-AC-TG |
c.598_599delinsCA |
p.V200Q |
Missense |
6/10 |
- |
1 |
7-44189439-AC-TT |
c.598_599delinsAA |
p.V200K |
Missense |
6/10 |
- |
1 |
7-44189439-A-G |
c.599T>C |
p.V200A |
Missense |
6/10 |
- |
2 |
7-44189439-A-T |
c.599T>A |
p.V200E |
Missense |
6/10 |
- |
1 |
7-44189440-C-A |
c.598G>T |
p.V200L |
Missense |
6/10 |
- |
3 |
7-44189440-C-G |
c.598G>C |
p.V200L |
Missense |
6/10 |
- |
2 |
7-44189440-C-T |
c.598G>A |
p.V200M |
Missense |
6/10 |
- |
2 |
7-44189441-CAC-AAA |
c.595_597delinsTTT |
p.V199F |
Missense |
6/10 |
- |
1 |
7-44189441-CAC-ACA |
c.595_597delinsTGT |
p.V199C |
Missense |
6/10 |
- |
1 |
7-44189441-CAC-ATA |
c.595_597delinsTAT |
p.V199Y |
Missense |
6/10 |
- |
1 |
7-44189441-CAC-ATG |
c.595_597delinsCAT |
p.V199H |
Missense |
6/10 |
- |
1 |
7-44189441-CAC-GAT |
c.595_597delinsATC |
p.V199I |
Missense |
6/10 |
- |
2 |
7-44189441-CAC-GTT |
c.595_597delinsAAC |
p.V199N |
Missense |
6/10 |
- |
1 |
7-44189441-CA-GT |
c.596_597delinsAC |
p.V199D |
Missense |
6/10 |
- |
1 |
7-44189442-A-C |
c.596T>G |
p.V199G |
Missense |
6/10 |
- |
2 |
7-44189442-AC-CA |
c.595_596delinsTG |
p.V199W |
Missense |
6/10 |
- |
1 |
7-44189442-AC-CT |
c.595_596delinsAG |
p.V199R |
Missense |
6/10 |
- |
1 |
7-44189442-AC-GA |
c.595_596delinsTC |
p.V199S |
Missense |
6/10 |
- |
1 |
7-44189442-AC-GG |
c.595_596delinsCC |
p.V199P |
Missense |
6/10 |
- |
1 |
7-44189442-AC-GT |
c.595_596inv |
p.V199T |
Missense |
6/10 |
- |
1 |
7-44189442-AC-TG |
c.595_596delinsCA |
p.V199Q |
Missense |
6/10 |
- |
1 |
7-44189442-AC-TT |
c.595_596delinsAA |
p.V199K |
Missense |
6/10 |
- |
1 |
7-44189442-A-G |
c.596T>C |
p.V199A |
Missense |
6/10 |
- |
2 |
7-44189442-A-T |
c.596T>A |
p.V199E |
Missense |
6/10 |
- |
1 |
7-44189443-C-A |
c.595G>T |
p.V199L |
Missense |
6/10 |
- |
2 |
7-44189443-C-G |
c.595G>C |
p.V199L |
Missense |
6/10 |
- |
2 |
7-44189443-C-T |
c.595G>A |
p.V199M |
Missense |
6/10 |
- |
3 |
7-44189444-A-C |
c.594T>G |
p.D198E |
Missense |
6/10 |
- |
1 |
7-44189444-A-T |
c.594T>A |
p.D198E |
Missense |
6/10 |
- |
1 |
7-44189444-ATC-CAT |
c.592_594delinsATG |
p.D198M |
Missense |
6/10 |
- |
1 |
7-44189444-ATC-CCA |
c.592_594delinsTGG |
p.D198W |
Missense |
6/10 |
- |
1 |
7-44189444-ATC-CTT |
c.592_594delinsAAG |
p.D198K |
Missense |
6/10 |
- |
1 |
7-44189444-ATC-TTG |
c.592_594delinsCAA |
p.D198Q |
Missense |
6/10 |
- |
1 |
7-44189445-T-A |
c.593A>T |
p.D198V |
Missense |
6/10 |
- |
4 |
7-44189445-T-C |
c.593A>G |
p.D198G |
Missense |
6/10 |
- |
1 |
7-44189445-TC-AA |
c.592_593delinsTT |
p.D198F |
Missense |
6/10 |
- |
1 |
7-44189445-TC-AG |
c.592_593delinsCT |
p.D198L |
Missense |
6/10 |
- |
1 |
7-44189445-TC-AT |
c.592_593delinsAT |
p.D198I |
Missense |
6/10 |
- |
1 |
7-44189445-TC-CA |
c.592_593delinsTG |
p.D198C |
Missense |
6/10 |
- |
1 |
7-44189445-TC-CG |
c.592_593delinsCG |
p.D198R |
Missense |
6/10 |
- |
1 |
7-44189445-TC-CT |
c.592_593delinsAG |
p.D198S |
Missense |
6/10 |
- |
1 |
7-44189445-TC-GG |
c.592_593delinsCC |
p.D198P |
Missense |
6/10 |
- |
1 |
7-44189445-TC-GT |
c.592_593delinsAC |
p.D198T |
Missense |
6/10 |
- |
1 |
7-44189445-T-G |
c.593A>C |
p.D198A |
Missense |
6/10 |
- |
1 |
7-44189446-C-A |
c.592G>T |
p.D198Y |
Missense |
6/10 |
- |
3 |
7-44189446-C-G |
c.592G>C |
p.D198H |
Missense |
6/10 |
- |
1 |
7-44189446-C-T |
c.592G>A |
p.D198N |
Missense |
6/10 |
- |
1 |
7-44189447-C-A |
c.591G>T |
p.M197I |
Missense |
6/10 |
- |
10 |
7-44189447-CA-GC |
c.590_591delinsGC |
p.M197S |
Missense |
6/10 |
- |
1 |
7-44189447-CA-GT |
c.590_591delinsAC |
p.M197N |
Missense |
6/10 |
- |
1 |
7-44189447-CAT-AAA |
c.589_591delinsTTT |
p.M197F |
Missense |
6/10 |
- |
2 |
7-44189447-CAT-ACA |
c.589_591delinsTGT |
p.M197C |
Missense |
6/10 |
- |
1 |
7-44189447-CAT-ATA |
c.589_591delinsTAT |
p.M197Y |
Missense |
6/10 |
- |
1 |
7-44189447-CAT-ATG |
c.589_591inv |
p.M197H |
Missense |
6/10 |
- |
1 |
7-44189447-CAT-GTC |
c.589_591delinsGAC |
p.M197D |
Missense |
6/10 |
- |
2 |
7-44189447-C-G |
c.591G>C |
p.M197I |
Missense |
6/10 |
- |
8 |
7-44189447-C-T |
c.591G>A |
p.M197I |
Missense |
6/10 |
- |
8 |
7-44189448-A-C |
c.590T>G |
p.M197R |
Missense |
6/10 |
- |
1 |
7-44189448-A-G |
c.590T>C |
p.M197T |
Missense |
6/10 |
- |
7 |
7-44189448-A-T |
c.590T>A |
p.M197K |
Missense |
6/10 |
- |
2 |
7-44189448-AT-CA |
c.589_590delinsTG |
p.M197W |
Missense |
6/10 |
- |
1 |
7-44189448-AT-CC |
c.589_590delinsGG |
p.M197G |
Missense |
6/10 |
- |
1 |
7-44189448-AT-GC |
c.589_590delinsGC |
p.M197A |
Missense |
6/10 |
- |
3 |
7-44189448-AT-GG |
c.589_590delinsCC |
p.M197P |
Missense |
6/10 |
- |
1 |
7-44189448-AT-TC |
c.589_590delinsGA |
p.M197E |
Missense |
6/10 |
- |
2 |
7-44189448-AT-TG |
c.589_590delinsCA |
p.M197Q |
Missense |
6/10 |
- |
1 |
7-44189449-T-A |
c.589A>T |
p.M197L |
Missense |
6/10 |
- |
3 |
7-44189449-T-C |
c.589A>G |
p.M197V |
Missense |
6/10 |
- |
7 |
7-44189449-T-G |
c.589A>C |
p.M197L |
Missense |
6/10 |
- |
3 |
7-44189450-T-A |
c.588A>T |
p.E196D |
Missense |
6/10 |
- |
1 |
7-44189450-T-G |
c.588A>C |
p.E196D |
Missense |
6/10 |
- |
1 |
7-44189450-TTC-AAA |
c.586_588delinsTTT |
p.E196F |
Missense |
6/10 |
- |
1 |
7-44189450-TTC-ACA |
c.586_588delinsTGT |
p.E196C |
Missense |
6/10 |
- |
1 |
7-44189450-TTC-ATA |
c.586_588delinsTAT |
p.E196Y |
Missense |
6/10 |
- |
1 |
7-44189450-TTC-ATG |
c.586_588delinsCAT |
p.E196H |
Missense |
6/10 |
- |
1 |
7-44189450-TTC-CAT |
c.586_588delinsATG |
p.E196M |
Missense |
6/10 |
- |
1 |
7-44189450-TTC-CCA |
c.586_588delinsTGG |
p.E196W |
Missense |
6/10 |
- |
1 |
7-44189450-TTC-GTT |
c.586_588delinsAAC |
p.E196N |
Missense |
6/10 |
- |
1 |
7-44189451-T-A |
c.587A>T |
p.E196V |
Missense |
6/10 |
- |
1 |
7-44189451-T-C |
c.587A>G |
p.E196G |
Missense |
6/10 |
- |
4 |
7-44189451-TC-AG |
c.586_587delinsCT |
p.E196L |
Missense |
6/10 |
- |
1 |
7-44189451-TC-AT |
c.586_587delinsAT |
p.E196I |
Missense |
6/10 |
- |
1 |
7-44189451-TC-CT |
c.586_587delinsAG |
p.E196R |
Missense |
6/10 |
- |
1 |
7-44189451-TC-GA |
c.586_587inv |
p.E196S |
Missense |
6/10 |
- |
1 |
7-44189451-TC-GG |
c.586_587delinsCC |
p.E196P |
Missense |
6/10 |
- |
1 |
7-44189451-TC-GT |
c.586_587delinsAC |
p.E196T |
Missense |
6/10 |
- |
1 |
7-44189451-T-G |
c.587A>C |
p.E196A |
Missense |
6/10 |
- |
1 |
7-44189452-C-G |
c.586G>C |
p.E196Q |
Missense |
6/10 |
- |
1 |
7-44189452-C-T |
c.586G>A |
p.E196K |
Missense |
6/10 |
- |
1 |
7-44189453-AAA-CAT |
c.583_585delinsATG |
p.F195M |
Missense |
6/10 |
- |
1 |
7-44189453-AAA-CTC |
c.583_585delinsGAG |
p.F195E |
Missense |
6/10 |
- |
1 |
7-44189453-AAA-CTT |
c.583_585delinsAAG |
p.F195K |
Missense |
6/10 |
- |
1 |
7-44189453-AAA-TTG |
c.583_585delinsCAA |
p.F195Q |
Missense |
6/10 |
- |
1 |
7-44189453-AA-CC |
c.584_585delinsGG |
p.F195W |
Missense |
6/10 |
- |
1 |
7-44189454-AA-CC |
c.583_584delinsGG |
p.F195G |
Missense |
6/10 |
- |
1 |
7-44189454-AA-CG |
c.583_584delinsCG |
p.F195R |
Missense |
6/10 |
- |
1 |
7-44189454-AA-GC |
c.583_584delinsGC |
p.F195A |
Missense |
6/10 |
- |
1 |
7-44189454-AA-GG |
c.583_584delinsCC |
p.F195P |
Missense |
6/10 |
- |
1 |
7-44189454-AA-GT |
c.583_584delinsAC |
p.F195T |
Missense |
6/10 |
- |
1 |
7-44189454-AA-TC |
c.583_584delinsGA |
p.F195D |
Missense |
6/10 |
- |
1 |
7-44189454-AA-TG |
c.583_584delinsCA |
p.F195H |
Missense |
6/10 |
- |
1 |
7-44189454-AA-TT |
c.583_584inv |
p.F195N |
Missense |
6/10 |
- |
1 |
7-44189454-A-C |
c.584T>G |
p.F195C |
Missense |
6/10 |
- |
1 |
7-44189454-A-G |
c.584T>C |
p.F195S |
Missense |
6/10 |
- |
3 |
7-44189454-A-T |
c.584T>A |
p.F195Y |
Missense |
6/10 |
- |
1 |
7-44189453-A-C |
c.585T>G |
p.F195L |
Missense |
6/10 |
- |
1 |
7-44189453-A-T |
c.585T>A |
p.F195L |
Missense |
6/10 |
- |
1 |
7-44189455-A-C |
c.583T>G |
p.F195V |
Missense |
6/10 |
- |
1 |
7-44189455-A-G |
c.583T>C |
p.F195L |
Missense |
6/10 |
- |
1 |
7-44189455-A-T |
c.583T>A |
p.F195I |
Missense |
6/10 |
- |
2 |
7-44189458-C-T |
c.580G>A |
p.D194N |
Missense |
6/10 |
- |
5 |
7-44189459-C-T |
c.580-1G>A |
- |
IntronicSNV |
- |
5/9 |
2 |
7-44189521-T-TG |
c.579+46dup |
- |
IntronicInsertion |
- |
5/9 |
1 |
7-44189539-C-A |
c.579+29G>T |
- |
IntronicSNV |
- |
5/9 |
4 |
7-44189539-C-G |
c.579+29G>C |
- |
IntronicSNV |
- |
5/9 |
2 |
7-44189539-C-T |
c.579+29G>A |
- |
IntronicSNV |
- |
5/9 |
2 |
7-44189543-C-T |
c.579+25G>A |
- |
IntronicSNV |
- |
5/9 |
1 |
7-44189544-C-T |
c.579+24G>A |
- |
IntronicSNV |
- |
5/9 |
2 |
7-44189556-G-C |
c.579+12C>G |
- |
IntronicSNV |
- |
5/9 |
1 |
7-44189564-CT-C |
c.579+4del |
- |
IntronicDeletion |
- |
5/9 |
1 |
7-44189567-C-T |
c.579+1G>A |
- |
IntronicSNV |
- |
5/9 |
2 |
7-44189568-C-A |
c.579G>T |
p.G193= |
Synonymous |
5/10 |
- |
5 |
7-44189568-CCC-AAA |
c.577_579delinsTTT |
p.G193F |
Missense |
5/10 |
- |
1 |
7-44189568-CCC-ACA |
c.577_579delinsTGT |
p.G193C |
Missense |
5/10 |
- |
1 |
7-44189568-CCC-ATA |
c.577_579delinsTAT |
p.G193Y |
Missense |
5/10 |
- |
1 |
7-44189568-CCC-ATG |
c.577_579delinsCAT |
p.G193H |
Missense |
5/10 |
- |
1 |
7-44189568-CCC-GAT |
c.577_579delinsATC |
p.G193I |
Missense |
5/10 |
- |
1 |
7-44189568-CCC-GCT |
c.577_579delinsAGC |
p.G193S |
Missense |
5/10 |
- |
2 |
7-44189568-CCC-GTT |
c.577_579delinsAAC |
p.G193N |
Missense |
5/10 |
- |
1 |
7-44189568-CC-GT |
c.578_579delinsAC |
p.G193D |
Missense |
5/10 |
- |
1 |
7-44189568-C-G |
c.579G>C |
p.G193= |
Synonymous |
5/10 |
- |
2 |
7-44189568-C-T |
c.579G>A |
p.G193= |
Synonymous |
5/10 |
- |
2 |
7-44189569-C-A |
c.578G>T |
p.G193V |
Missense |
5/10 |
- |
1 |
7-44189569-CC-AG |
c.577_578delinsCT |
p.G193L |
Missense |
5/10 |
- |
1 |
7-44189569-CC-AT |
c.577_578delinsAT |
p.G193M |
Missense |
5/10 |
- |
1 |
7-44189569-CC-GG |
c.577_578inv |
p.G193P |
Missense |
5/10 |
- |
1 |
7-44189569-CC-GT |
c.577_578delinsAC |
p.G193T |
Missense |
5/10 |
- |
1 |
7-44189569-CC-TG |
c.577_578delinsCA |
p.G193Q |
Missense |
5/10 |
- |
1 |
7-44189569-CC-TT |
c.577_578delinsAA |
p.G193K |
Missense |
5/10 |
- |
1 |
7-44189569-C-G |
c.578G>C |
p.G193A |
Missense |
5/10 |
- |
1 |
7-44189569-C-T |
c.578G>A |
p.G193E |
Missense |
5/10 |
- |
2 |
7-44189570-C-A |
c.577G>T |
p.G193W |
Missense |
5/10 |
- |
4 |
7-44189570-C-G |
c.577G>C |
p.G193R |
Missense |
5/10 |
- |
5 |
7-44189570-C-T |
c.577G>A |
p.G193R |
Missense |
5/10 |
- |
8 |
7-44189571-T-A |
c.576A>T |
p.R192S |
Missense |
5/10 |
- |
4 |
7-44189571-TC-CA |
c.575_576delinsTG |
p.R192M |
Missense |
5/10 |
- |
1 |
7-44189571-TC-GT |
c.575_576delinsAC |
p.R192N |
Missense |
5/10 |
- |
1 |
7-44189571-TCT-AAA |
c.574_576delinsTTT |
p.R192F |
Missense |
5/10 |
- |
1 |
7-44189571-TCT-ACA |
c.574_576delinsTGT |
p.R192C |
Missense |
5/10 |
- |
1 |
7-44189571-TCT-ATA |
c.574_576delinsTAT |
p.R192Y |
Missense |
5/10 |
- |
1 |
7-44189571-TCT-ATG |
c.574_576delinsCAT |
p.R192H |
Missense |
5/10 |
- |
8 |
7-44189571-TCT-CCA |
c.574_576delinsTGG |
p.R192W |
Missense |
5/10 |
- |
4 |
7-44189571-TCT-GTC |
c.574_576delinsGAC |
p.R192D |
Missense |
5/10 |
- |
1 |
7-44189571-T-G |
c.576A>C |
p.R192S |
Missense |
5/10 |
- |
4 |
7-44189572-C-A |
c.575G>T |
p.R192I |
Missense |
5/10 |
- |
1 |
7-44189572-C-G |
c.575G>C |
p.R192T |
Missense |
5/10 |
- |
1 |
7-44189572-C-T |
c.575G>A |
p.R192K |
Missense |
5/10 |
- |
6 |
7-44189572-CT-AC |
c.574_575delinsGT |
p.R192V |
Missense |
5/10 |
- |
1 |
7-44189572-CT-AG |
c.574_575inv |
p.R192L |
Missense |
5/10 |
- |
1 |
7-44189572-CT-GC |
c.574_575delinsGC |
p.R192A |
Missense |
5/10 |
- |
1 |
7-44189572-CT-GG |
c.574_575delinsCC |
p.R192P |
Missense |
5/10 |
- |
1 |
7-44189572-CT-TC |
c.574_575delinsGA |
p.R192E |
Missense |
5/10 |
- |
1 |
7-44189572-CT-TG |
c.574_575delinsCA |
p.R192Q |
Missense |
5/10 |
- |
7 |
7-44189573-T-A |
c.574A>T |
p.R192* |
Nonsense |
5/10 |
- |
1 |
7-44189573-T-C |
c.574A>G |
p.R192G |
Missense |
5/10 |
- |
2 |
7-44189574-CC-AT |
c.572_573delinsAT |
p.R191H |
Missense |
5/10 |
- |
1 |
7-44189574-CCG-AAA |
c.571_573delinsTTT |
p.R191F |
Missense |
5/10 |
- |
1 |
7-44189574-CCG-ACA |
c.571_573delinsTGT |
p.R191C |
Missense |
5/10 |
- |
1 |
7-44189574-CCG-ATA |
c.571_573delinsTAT |
p.R191Y |
Missense |
5/10 |
- |
1 |
7-44189574-CCG-GAT |
c.571_573delinsATC |
p.R191I |
Missense |
5/10 |
- |
1 |
7-44189574-CCG-GCT |
c.571_573delinsAGC |
p.R191S |
Missense |
5/10 |
- |
1 |
7-44189574-CCG-GTC |
c.571_573delinsGAC |
p.R191D |
Missense |
5/10 |
- |
1 |
7-44189574-CCG-GTT |
c.571_573delinsAAC |
p.R191N |
Missense |
5/10 |
- |
1 |
7-44189574-C-T |
c.573G>A |
p.R191= |
Synonymous |
5/10 |
- |
2 |
7-44189573-TC-T |
c.573del |
p.R192Efs*12 |
Frameshift |
5/10 |
- |
1 |
7-44189575-C-A |
c.572G>T |
p.R191L |
Missense |
5/10 |
- |
2 |
7-44189575-C-G |
c.572G>C |
p.R191P |
Missense |
5/10 |
- |
2 |
7-44189575-CG-AC |
c.571_572delinsGT |
p.R191V |
Missense |
5/10 |
- |
1 |
7-44189575-CG-AT |
c.571_572delinsAT |
p.R191M |
Missense |
5/10 |
- |
1 |
7-44189575-CG-GC |
c.571_572delinsGC |
p.R191A |
Missense |
5/10 |
- |
1 |
7-44189575-CG-GT |
c.571_572delinsAC |
p.R191T |
Missense |
5/10 |
- |
1 |
7-44189575-CG-TA |
c.571_572delinsTA |
p.R191* |
Nonsense |
5/10 |
- |
1 |
7-44189575-CG-TC |
c.571_572delinsGA |
p.R191E |
Missense |
5/10 |
- |
2 |
7-44189575-CG-TT |
c.571_572delinsAA |
p.R191K |
Missense |
5/10 |
- |
2 |
7-44189575-C-T |
c.572G>A |
p.R191Q |
Missense |
5/10 |
- |
19 |
7-44189576-G-A |
c.571C>T |
p.R191W |
Missense |
5/10 |
- |
26 |
7-44189576-G-C |
c.571C>G |
p.R191G |
Missense |
5/10 |
- |
2 |
7-44189576-G-GGATA |
c.570_571insTATC |
p.R191Yfs*7 |
Frameshift |
5/10 |
- |
1 |
7-44189576-G-T |
c.571C>A |
p.R191= |
Synonymous |
5/10 |
- |
1 |
7-44189577-T-A |
c.570A>T |
p.K190N |
Missense |
5/10 |
- |
1 |
7-44189577-T-G |
c.570A>C |
p.K190N |
Missense |
5/10 |
- |
1 |
7-44189577-TT-CA |
c.569_570delinsTG |
p.K190M |
Missense |
5/10 |
- |
1 |
7-44189577-TT-GC |
c.569_570delinsGC |
p.K190S |
Missense |
5/10 |
- |
1 |
7-44189577-TTT-AAA |
c.568_570inv |
p.K190F |
Missense |
5/10 |
- |
1 |
7-44189577-TTT-ACA |
c.568_570delinsTGT |
p.K190C |
Missense |
5/10 |
- |
1 |
7-44189577-TTT-ATA |
c.568_570delinsTAT |
p.K190Y |
Missense |
5/10 |
- |
1 |
7-44189577-TTT-ATG |
c.568_570delinsCAT |
p.K190H |
Missense |
5/10 |
- |
1 |
7-44189577-TTT-CCA |
c.568_570delinsTGG |
p.K190W |
Missense |
5/10 |
- |
1 |
7-44189577-TTT-GTC |
c.568_570delinsGAC |
p.K190D |
Missense |
5/10 |
- |
1 |
7-44189578-T-A |
c.569A>T |
p.K190I |
Missense |
5/10 |
- |
1 |
7-44189578-T-C |
c.569A>G |
p.K190R |
Missense |
5/10 |
- |
1 |
7-44189578-T-G |
c.569A>C |
p.K190T |
Missense |
5/10 |
- |
1 |
7-44189578-TT-AC |
c.568_569delinsGT |
p.K190V |
Missense |
5/10 |
- |
1 |
7-44189578-TT-AG |
c.568_569delinsCT |
p.K190L |
Missense |
5/10 |
- |
1 |
7-44189578-TT-CC |
c.568_569delinsGG |
p.K190G |
Missense |
5/10 |
- |
1 |
7-44189578-TT-GC |
c.568_569delinsGC |
p.K190A |
Missense |
5/10 |
- |
1 |
7-44189578-TT-GG |
c.568_569delinsCC |
p.K190P |
Missense |
5/10 |
- |
1 |
7-44189579-T-C |
c.568A>G |
p.K190E |
Missense |
5/10 |
- |
1 |
7-44189579-T-G |
c.568A>C |
p.K190Q |
Missense |
5/10 |
- |
1 |
7-44189580-G-A |
c.567C>T |
p.I189= |
Synonymous |
5/10 |
- |
3 |
7-44189580-GA-CC |
c.566_567delinsGG |
p.I189R |
Missense |
5/10 |
- |
1 |
7-44189580-GA-CT |
c.566_567delinsAG |
p.I189K |
Missense |
5/10 |
- |
1 |
7-44189580-GAT-CCA |
c.565_567delinsTGG |
p.I189W |
Missense |
5/10 |
- |
1 |
7-44189580-GAT-CTC |
c.565_567delinsGAG |
p.I189E |
Missense |
5/10 |
- |
1 |
7-44189580-GAT-TTG |
c.565_567delinsCAA |
p.I189Q |
Missense |
5/10 |
- |
1 |
7-44189580-G-C |
c.567C>G |
p.I189M |
Missense |
5/10 |
- |
2 |
7-44189581-A-C |
c.566T>G |
p.I189S |
Missense |
5/10 |
- |
1 |
7-44189581-A-G |
c.566T>C |
p.I189T |
Missense |
5/10 |
- |
3 |
7-44189581-A-T |
c.566T>A |
p.I189N |
Missense |
5/10 |
- |
1 |
7-44189581-AT-CA |
c.565_566delinsTG |
p.I189C |
Missense |
5/10 |
- |
1 |
7-44189581-AT-CC |
c.565_566delinsGG |
p.I189G |
Missense |
5/10 |
- |
1 |
7-44189581-AT-GC |
c.565_566delinsGC |
p.I189A |
Missense |
5/10 |
- |
1 |
7-44189581-AT-GG |
c.565_566delinsCC |
p.I189P |
Missense |
5/10 |
- |
1 |
7-44189581-AT-TA |
c.565_566delinsTA |
p.I189Y |
Missense |
5/10 |
- |
1 |
7-44189581-AT-TC |
c.565_566delinsGA |
p.I189D |
Missense |
5/10 |
- |
1 |
7-44189581-AT-TG |
c.565_566delinsCA |
p.I189H |
Missense |
5/10 |
- |
1 |
7-44189582-T-A |
c.565A>T |
p.I189F |
Missense |
5/10 |
- |
1 |
7-44189582-T-C |
c.565A>G |
p.I189V |
Missense |
5/10 |
- |
3 |
7-44189582-T-G |
c.565A>C |
p.I189L |
Missense |
5/10 |
- |
1 |
7-44189583-AGC-CAT |
c.562_564delinsATG |
p.A188M |
Missense |
5/10 |
- |
1 |
7-44189583-AGC-CCA |
c.562_564delinsTGG |
p.A188W |
Missense |
5/10 |
- |
1 |
7-44189583-AGC-CTT |
c.562_564delinsAAG |
p.A188K |
Missense |
5/10 |
- |
1 |
7-44189583-AG-CT |
c.563_564inv |
p.A188E |
Missense |
5/10 |
- |
3 |
7-44189583-AGC-TTG |
c.562_564delinsCAA |
p.A188Q |
Missense |
5/10 |
- |
1 |
7-44189584-G-A |
c.563C>T |
p.A188V |
Missense |
5/10 |
- |
7 |
7-44189584-G-C |
c.563C>G |
p.A188G |
Missense |
5/10 |
- |
3 |
7-44189584-GC-AA |
c.562_563delinsTT |
p.A188F |
Missense |
5/10 |
- |
1 |
7-44189584-GC-AG |
c.562_563delinsCT |
p.A188L |
Missense |
5/10 |
- |
1 |
7-44189584-GC-AT |
c.562_563delinsAT |
p.A188I |
Missense |
5/10 |
- |
1 |
7-44189584-GC-CA |
c.562_563delinsTG |
p.A188C |
Missense |
5/10 |
- |
1 |
7-44189584-GC-CG |
c.562_563delinsCG |
p.A188R |
Missense |
5/10 |
- |
1 |
7-44189584-GC-TA |
c.562_563delinsTA |
p.A188Y |
Missense |
5/10 |
- |
1 |
7-44189584-GC-TG |
c.562_563delinsCA |
p.A188H |
Missense |
5/10 |
- |
1 |
7-44189584-GC-TT |
c.562_563delinsAA |
p.A188N |
Missense |
5/10 |
- |
1 |
7-44189584-G-T |
c.563C>A |
p.A188D |
Missense |
5/10 |
- |
2 |
7-44189585-C-A |
c.562G>T |
p.A188S |
Missense |
5/10 |
- |
1 |
7-44189585-C-G |
c.562G>C |
p.A188P |
Missense |
5/10 |
- |
1 |
7-44189585-C-T |
c.562G>A |
p.A188T |
Missense |
5/10 |
- |
18 |
7-44189586-G-A |
c.561C>T |
p.D187= |
Synonymous |
5/10 |
- |
1 |
7-44189586-G-C |
c.561C>G |
p.D187E |
Missense |
5/10 |
- |
2 |
7-44189586-G-T |
c.561C>A |
p.D187E |
Missense |
5/10 |
- |
3 |
7-44189586-GTC-CAT |
c.559_561delinsATG |
p.D187M |
Missense |
5/10 |
- |
1 |
7-44189586-GTC-CCA |
c.559_561delinsTGG |
p.D187W |
Missense |
5/10 |
- |
1 |
7-44189586-GTC-CTT |
c.559_561delinsAAG |
p.D187K |
Missense |
5/10 |
- |
1 |
7-44189586-GTC-TTG |
c.559_561delinsCAA |
p.D187Q |
Missense |
5/10 |
- |
1 |
7-44189587-T-A |
c.560A>T |
p.D187V |
Missense |
5/10 |
- |
2 |
7-44189587-T-C |
c.560A>G |
p.D187G |
Missense |
5/10 |
- |
2 |
7-44189587-TC-AA |
c.559_560delinsTT |
p.D187F |
Missense |
5/10 |
- |
1 |
7-44189587-TC-AG |
c.559_560delinsCT |
p.D187L |
Missense |
5/10 |
- |
1 |
7-44189587-TC-AT |
c.559_560delinsAT |
p.D187I |
Missense |
5/10 |
- |
1 |
7-44189587-TC-CA |
c.559_560delinsTG |
p.D187C |
Missense |
5/10 |
- |
1 |
7-44189587-TC-CG |
c.559_560delinsCG |
p.D187R |
Missense |
5/10 |
- |
1 |
7-44189587-TC-CT |
c.559_560delinsAG |
p.D187S |
Missense |
5/10 |
- |
1 |
7-44189587-TC-GG |
c.559_560delinsCC |
p.D187P |
Missense |
5/10 |
- |
1 |
7-44189587-TC-GT |
c.559_560delinsAC |
p.D187T |
Missense |
5/10 |
- |
1 |
7-44189587-T-G |
c.560A>C |
p.D187A |
Missense |
5/10 |
- |
1 |
7-44189588-C-A |
c.559G>T |
p.D187Y |
Missense |
5/10 |
- |
2 |
7-44189588-C-G |
c.559G>C |
p.D187H |
Missense |
5/10 |
- |
1 |
7-44189588-C-T |
c.559G>A |
p.D187N |
Missense |
5/10 |
- |
1 |
7-44189589-TC-AT |
c.557_558delinsAT |
p.R186H |
Missense |
5/10 |
- |
1 |
7-44189589-TCG-AAA |
c.556_558delinsTTT |
p.R186F |
Missense |
5/10 |
- |
1 |
7-44189589-TCG-ACA |
c.556_558delinsTGT |
p.R186C |
Missense |
5/10 |
- |
1 |
7-44189589-TCG-ATA |
c.556_558delinsTAT |
p.R186Y |
Missense |
5/10 |
- |
1 |
7-44189589-TCG-CAT |
c.556_558delinsATG |
p.R186M |
Missense |
5/10 |
- |
1 |
7-44189589-TCG-CCA |
c.556_558delinsTGG |
p.R186W |
Missense |
5/10 |
- |
1 |
7-44189589-TCG-GCT |
c.556_558delinsAGC |
p.R186S |
Missense |
5/10 |
- |
1 |
7-44189589-TCG-GTC |
c.556_558delinsGAC |
p.R186D |
Missense |
5/10 |
- |
1 |
7-44189589-TCG-GTT |
c.556_558delinsAAC |
p.R186N |
Missense |
5/10 |
- |
1 |
7-44189590-C-A |
c.557G>T |
p.R186L |
Missense |
5/10 |
- |
2 |
7-44189590-C-G |
c.557G>C |
p.R186P |
Missense |
5/10 |
- |
2 |
7-44189590-CG-AC |
c.556_557delinsGT |
p.R186V |
Missense |
5/10 |
- |
1 |
7-44189590-CG-AT |
c.556_557delinsAT |
p.R186I |
Missense |
5/10 |
- |
1 |
7-44189590-CG-GC |
c.556_557delinsGC |
p.R186A |
Missense |
5/10 |
- |
1 |
7-44189590-CG-GT |
c.556_557delinsAC |
p.R186T |
Missense |
5/10 |
- |
1 |
7-44189590-CG-TC |
c.556_557delinsGA |
p.R186E |
Missense |
5/10 |
- |
1 |
7-44189590-CG-TT |
c.556_557delinsAA |
p.R186K |
Missense |
5/10 |
- |
1 |
7-44189590-C-T |
c.557G>A |
p.R186Q |
Missense |
5/10 |
- |
3 |
7-44189591-G-A |
c.556C>T |
p.R186* |
Nonsense |
5/10 |
- |
16 |
7-44189591-G-C |
c.556C>G |
p.R186G |
Missense |
5/10 |
- |
2 |
7-44189592-CA-AT |
c.554_555delinsAT |
p.L185H |
Missense |
5/10 |
- |
1 |
7-44189592-CAG-AAA |
c.553_555delinsTTT |
p.L185F |
Missense |
5/10 |
- |
2 |
7-44189592-CAG-ACA |
c.553_555delinsTGT |
p.L185C |
Missense |
5/10 |
- |
1 |
7-44189592-CAG-ATA |
c.553_555delinsTAT |
p.L185Y |
Missense |
5/10 |
- |
1 |
7-44189592-CAG-GAT |
c.553_555delinsATC |
p.L185I |
Missense |
5/10 |
- |
1 |
7-44189592-CAG-GTC |
c.553_555delinsGAC |
p.L185D |
Missense |
5/10 |
- |
1 |
7-44189592-CAG-GTT |
c.553_555delinsAAC |
p.L185N |
Missense |
5/10 |
- |
1 |
7-44189593-A-C |
c.554T>G |
p.L185R |
Missense |
5/10 |
- |
2 |
7-44189593-A-G |
c.554T>C |
p.L185P |
Missense |
5/10 |
- |
3 |
7-44189593-AG-CA |
c.553_554delinsTG |
p.L185W |
Missense |
5/10 |
- |
1 |
7-44189593-AG-CC |
c.553_554delinsGG |
p.L185G |
Missense |
5/10 |
- |
1 |
7-44189593-AG-GA |
c.553_554delinsTC |
p.L185S |
Missense |
5/10 |
- |
1 |
7-44189593-AG-GC |
c.553_554delinsGC |
p.L185A |
Missense |
5/10 |
- |
1 |
7-44189593-AG-GT |
c.553_554delinsAC |
p.L185T |
Missense |
5/10 |
- |
1 |
7-44189593-AG-TC |
c.553_554delinsGA |
p.L185E |
Missense |
5/10 |
- |
1 |
7-44189593-AG-TT |
c.553_554delinsAA |
p.L185K |
Missense |
5/10 |
- |
1 |
7-44189593-A-T |
c.554T>A |
p.L185Q |
Missense |
5/10 |
- |
2 |
7-44189592-CAGAAGCCCCACG-C |
c.543_554del |
p.V182_L185del |
InFrameDeletion |
5/10 |
- |
1 |
7-44189594-G-C |
c.553C>G |
p.L185V |
Missense |
5/10 |
- |
2 |
7-44189594-G-T |
c.553C>A |
p.L185M |
Missense |
5/10 |
- |
1 |
7-44189595-AAG-CAT |
c.550_552delinsATG |
p.L184M |
Missense |
5/10 |
- |
1 |
7-44189595-AAG-CCA |
c.550_552delinsTGG |
p.L184W |
Missense |
5/10 |
- |
1 |
7-44189595-AAG-CTC |
c.550_552delinsGAG |
p.L184E |
Missense |
5/10 |
- |
1 |
7-44189595-AAG-CTT |
c.550_552inv |
p.L184K |
Missense |
5/10 |
- |
1 |
7-44189595-AA-TT |
c.551_552inv |
p.L184Q |
Missense |
5/10 |
- |
1 |
7-44189596-A-C |
c.551T>G |
p.L184R |
Missense |
5/10 |
- |
1 |
7-44189596-A-G |
c.551T>C |
p.L184P |
Missense |
5/10 |
- |
4 |
7-44189596-AG-CA |
c.550_551delinsTG |
p.L184C |
Missense |
5/10 |
- |
1 |
7-44189596-AG-CC |
c.550_551delinsGG |
p.L184G |
Missense |
5/10 |
- |
1 |
7-44189596-AG-CT |
c.550_551inv |
p.L184S |
Missense |
5/10 |
- |
1 |
7-44189596-AG-GC |
c.550_551delinsGC |
p.L184A |
Missense |
5/10 |
- |
1 |
7-44189596-AG-GT |
c.550_551delinsAC |
p.L184T |
Missense |
5/10 |
- |
1 |
7-44189596-AG-TA |
c.550_551delinsTA |
p.L184Y |
Missense |
5/10 |
- |
1 |
7-44189596-AG-TC |
c.550_551delinsGA |
p.L184D |
Missense |
5/10 |
- |
1 |
7-44189596-AG-TT |
c.550_551delinsAA |
p.L184N |
Missense |
5/10 |
- |
1 |
7-44189596-A-T |
c.551T>A |
p.L184H |
Missense |
5/10 |
- |
1 |
7-44189597-G-A |
c.550C>T |
p.L184F |
Missense |
5/10 |
- |
1 |
7-44189597-G-C |
c.550C>G |
p.L184V |
Missense |
5/10 |
- |
1 |
7-44189597-G-T |
c.550C>A |
p.L184I |
Missense |
5/10 |
- |
1 |
7-44189598-CCC-AAA |
c.547_549delinsTTT |
p.G183F |
Missense |
5/10 |
- |
1 |
7-44189598-CCC-ACA |
c.547_549delinsTGT |
p.G183C |
Missense |
5/10 |
- |
1 |
7-44189598-CCC-ATA |
c.547_549delinsTAT |
p.G183Y |
Missense |
5/10 |
- |
1 |
7-44189598-CCC-ATG |
c.547_549delinsCAT |
p.G183H |
Missense |
5/10 |
- |
1 |
7-44189598-CCC-GAT |
c.547_549delinsATC |
p.G183I |
Missense |
5/10 |
- |
1 |
7-44189598-CCC-GCT |
c.547_549delinsAGC |
p.G183S |
Missense |
5/10 |
- |
1 |
7-44189598-CCC-GTT |
c.547_549delinsAAC |
p.G183N |
Missense |
5/10 |
- |
1 |
7-44189598-CC-GT |
c.548_549delinsAC |
p.G183D |
Missense |
5/10 |
- |
1 |
7-44189599-C-A |
c.548G>T |
p.G183V |
Missense |
5/10 |
- |
1 |
7-44189599-CC-AG |
c.547_548delinsCT |
p.G183L |
Missense |
5/10 |
- |
1 |
7-44189599-CC-AT |
c.547_548delinsAT |
p.G183M |
Missense |
5/10 |
- |
1 |
7-44189599-CC-GG |
c.547_548inv |
p.G183P |
Missense |
5/10 |
- |
1 |
7-44189599-CC-GT |
c.547_548delinsAC |
p.G183T |
Missense |
5/10 |
- |
1 |
7-44189599-CC-TG |
c.547_548delinsCA |
p.G183Q |
Missense |
5/10 |
- |
1 |
7-44189599-CC-TT |
c.547_548delinsAA |
p.G183K |
Missense |
5/10 |
- |
1 |
7-44189599-C-G |
c.548G>C |
p.G183A |
Missense |
5/10 |
- |
1 |
7-44189599-C-T |
c.548G>A |
p.G183E |
Missense |
5/10 |
- |
1 |
7-44189600-C-A |
c.547G>T |
p.G183W |
Missense |
5/10 |
- |
1 |
7-44189600-C-G |
c.547G>C |
p.G183R |
Missense |
5/10 |
- |
1 |
7-44189600-C-T |
c.547G>A |
p.G183R |
Missense |
5/10 |
- |
1 |
7-44189597-GC-G |
c.549del |
p.L184Ffs*20 |
Frameshift |
5/10 |
- |
1 |
7-44189601-CAC-AAA |
c.544_546delinsTTT |
p.V182F |
Missense |
5/10 |
- |
1 |
7-44189601-CAC-ACA |
c.544_546delinsTGT |
p.V182C |
Missense |
5/10 |
- |
1 |
7-44189601-CAC-ATA |
c.544_546delinsTAT |
p.V182Y |
Missense |
5/10 |
- |
1 |
7-44189601-CAC-ATG |
c.544_546delinsCAT |
p.V182H |
Missense |
5/10 |
- |
1 |
7-44189601-CAC-GAT |
c.544_546delinsATC |
p.V182I |
Missense |
5/10 |
- |
1 |
7-44189601-CAC-GTT |
c.544_546delinsAAC |
p.V182N |
Missense |
5/10 |
- |
1 |
7-44189601-CA-GT |
c.545_546delinsAC |
p.V182D |
Missense |
5/10 |
- |
1 |
7-44189602-A-C |
c.545T>G |
p.V182G |
Missense |
5/10 |
- |
2 |
7-44189602-AC-CA |
c.544_545delinsTG |
p.V182W |
Missense |
5/10 |
- |
1 |
7-44189602-AC-CT |
c.544_545delinsAG |
p.V182R |
Missense |
5/10 |
- |
1 |
7-44189602-AC-GA |
c.544_545delinsTC |
p.V182S |
Missense |
5/10 |
- |
1 |
7-44189602-AC-GG |
c.544_545delinsCC |
p.V182P |
Missense |
5/10 |
- |
1 |
7-44189602-AC-GT |
c.544_545inv |
p.V182T |
Missense |
5/10 |
- |
1 |
7-44189602-AC-TG |
c.544_545delinsCA |
p.V182Q |
Missense |
5/10 |
- |
1 |
7-44189602-AC-TT |
c.544_545delinsAA |
p.V182K |
Missense |
5/10 |
- |
1 |
7-44189602-A-G |
c.545T>C |
p.V182A |
Missense |
5/10 |
- |
1 |
7-44189602-A-T |
c.545T>A |
p.V182E |
Missense |
5/10 |
- |
1 |
7-44189603-C-A |
c.544G>T |
p.V182L |
Missense |
5/10 |
- |
4 |
7-44189603-C-G |
c.544G>C |
p.V182L |
Missense |
5/10 |
- |
3 |
7-44189603-C-T |
c.544G>A |
p.V182M |
Missense |
5/10 |
- |
31 |
7-44189601-CACG-C |
c.543_545del |
p.V182del |
InFrameDeletion |
5/10 |
- |
1 |
7-44189604-G-A |
c.543C>T |
p.V181= |
Synonymous |
5/10 |
- |
2 |
7-44189604-GAC-CAT |
c.541_543delinsATG |
p.V181M |
Missense |
5/10 |
- |
1 |
7-44189604-GAC-CCA |
c.541_543delinsTGG |
p.V181W |
Missense |
5/10 |
- |
1 |
7-44189604-GAC-CTT |
c.541_543delinsAAG |
p.V181K |
Missense |
5/10 |
- |
1 |
7-44189604-GA-CT |
c.542_543delinsAG |
p.V181E |
Missense |
5/10 |
- |
1 |
7-44189604-GAC-TTG |
c.541_543delinsCAA |
p.V181Q |
Missense |
5/10 |
- |
1 |
7-44189604-G-C |
c.543C>G |
p.V181= |
Synonymous |
5/10 |
- |
2 |
7-44189604-G-T |
c.543C>A |
p.V181= |
Synonymous |
5/10 |
- |
2 |
7-44189605-A-C |
c.542T>G |
p.V181G |
Missense |
5/10 |
- |
1 |
7-44189605-AC-CA |
c.541_542delinsTG |
p.V181C |
Missense |
5/10 |
- |
1 |
7-44189605-AC-CG |
c.541_542delinsCG |
p.V181R |
Missense |
5/10 |
- |
1 |
7-44189605-AC-CT |
c.541_542delinsAG |
p.V181S |
Missense |
5/10 |
- |
1 |
7-44189605-AC-GG |
c.541_542delinsCC |
p.V181P |
Missense |
5/10 |
- |
1 |
7-44189605-AC-GT |
c.541_542inv |
p.V181T |
Missense |
5/10 |
- |
1 |
7-44189605-AC-TA |
c.541_542delinsTA |
p.V181Y |
Missense |
5/10 |
- |
1 |
7-44189605-AC-TG |
c.541_542delinsCA |
p.V181H |
Missense |
5/10 |
- |
1 |
7-44189605-AC-TT |
c.541_542delinsAA |
p.V181N |
Missense |
5/10 |
- |
1 |
7-44189605-A-G |
c.542T>C |
p.V181A |
Missense |
5/10 |
- |
5 |
7-44189605-A-T |
c.542T>A |
p.V181D |
Missense |
5/10 |
- |
2 |
7-44189606-C-A |
c.541G>T |
p.V181F |
Missense |
5/10 |
- |
1 |
7-44189606-C-G |
c.541G>C |
p.V181L |
Missense |
5/10 |
- |
1 |
7-44189606-C-T |
c.541G>A |
p.V181I |
Missense |
5/10 |
- |
1 |
7-44189607-A-C |
c.540T>G |
p.N180K |
Missense |
5/10 |
- |
6 |
7-44189607-A-T |
c.540T>A |
p.N180K |
Missense |
5/10 |
- |
3 |
7-44189607-AT-CA |
c.539_540delinsTG |
p.N180M |
Missense |
5/10 |
- |
1 |
7-44189607-AT-CC |
c.539_540delinsGG |
p.N180R |
Missense |
5/10 |
- |
1 |
7-44189607-ATT-CCA |
c.538_540delinsTGG |
p.N180W |
Missense |
5/10 |
- |
1 |
7-44189607-ATT-CTC |
c.538_540delinsGAG |
p.N180E |
Missense |
5/10 |
- |
1 |
7-44189607-ATT-TTG |
c.538_540delinsCAA |
p.N180Q |
Missense |
5/10 |
- |
1 |
7-44189608-T-A |
c.539A>T |
p.N180I |
Missense |
5/10 |
- |
1 |
7-44189608-T-C |
c.539A>G |
p.N180S |
Missense |
5/10 |
- |
4 |
7-44189608-T-G |
c.539A>C |
p.N180T |
Missense |
5/10 |
- |
1 |
7-44189608-TT-AA |
c.538_539inv |
p.N180F |
Missense |
5/10 |
- |
1 |
7-44189608-TT-AC |
c.538_539delinsGT |
p.N180V |
Missense |
5/10 |
- |
1 |
7-44189608-TT-AG |
c.538_539delinsCT |
p.N180L |
Missense |
5/10 |
- |
1 |
7-44189608-TT-CA |
c.538_539delinsTG |
p.N180C |
Missense |
5/10 |
- |
1 |
7-44189608-TT-CC |
c.538_539delinsGG |
p.N180G |
Missense |
5/10 |
- |
1 |
7-44189608-TT-GC |
c.538_539delinsGC |
p.N180A |
Missense |
5/10 |
- |
1 |
7-44189608-TT-GG |
c.538_539delinsCC |
p.N180P |
Missense |
5/10 |
- |
1 |
7-44189609-T-A |
c.538A>T |
p.N180Y |
Missense |
5/10 |
- |
1 |
7-44189609-T-C |
c.538A>G |
p.N180D |
Missense |
5/10 |
- |
5 |
7-44189609-T-G |
c.538A>C |
p.N180H |
Missense |
5/10 |
- |
4 |
7-44189610-G-C |
c.537C>G |
p.N179K |
Missense |
5/10 |
- |
1 |
7-44189610-G-T |
c.537C>A |
p.N179K |
Missense |
5/10 |
- |
1 |
7-44189610-GT-CA |
c.536_537delinsTG |
p.N179M |
Missense |
5/10 |
- |
1 |
7-44189610-GT-CC |
c.536_537delinsGG |
p.N179R |
Missense |
5/10 |
- |
1 |
7-44189610-GTT-CCA |
c.535_537delinsTGG |
p.N179W |
Missense |
5/10 |
- |
1 |
7-44189610-GTT-CTC |
c.535_537delinsGAG |
p.N179E |
Missense |
5/10 |
- |
1 |
7-44189610-GTT-TTG |
c.535_537delinsCAA |
p.N179Q |
Missense |
5/10 |
- |
1 |
7-44189611-T-A |
c.536A>T |
p.N179I |
Missense |
5/10 |
- |
1 |
7-44189611-T-C |
c.536A>G |
p.N179S |
Missense |
5/10 |
- |
1 |
7-44189611-T-G |
c.536A>C |
p.N179T |
Missense |
5/10 |
- |
1 |
7-44189611-TT-AA |
c.535_536inv |
p.N179F |
Missense |
5/10 |
- |
1 |
7-44189611-TT-AC |
c.535_536delinsGT |
p.N179V |
Missense |
5/10 |
- |
1 |
7-44189611-TT-AG |
c.535_536delinsCT |
p.N179L |
Missense |
5/10 |
- |
1 |
7-44189611-TT-CA |
c.535_536delinsTG |
p.N179C |
Missense |
5/10 |
- |
1 |
7-44189611-TT-CC |
c.535_536delinsGG |
p.N179G |
Missense |
5/10 |
- |
1 |
7-44189611-TT-GC |
c.535_536delinsGC |
p.N179A |
Missense |
5/10 |
- |
1 |
7-44189611-TT-GG |
c.535_536delinsCC |
p.N179P |
Missense |
5/10 |
- |
1 |
7-44189612-T-A |
c.535A>T |
p.N179Y |
Missense |
5/10 |
- |
1 |
7-44189612-T-C |
c.535A>G |
p.N179D |
Missense |
5/10 |
- |
1 |
7-44189612-T-G |
c.535A>C |
p.N179H |
Missense |
5/10 |
- |
1 |
7-44189613-C-A |
c.534G>T |
p.G178= |
Synonymous |
5/10 |
- |
1 |
7-44189613-CCC-AAA |
c.532_534delinsTTT |
p.G178F |
Missense |
5/10 |
- |
1 |
7-44189613-CCC-ACA |
c.532_534delinsTGT |
p.G178C |
Missense |
5/10 |
- |
1 |
7-44189613-CCC-ATA |
c.532_534delinsTAT |
p.G178Y |
Missense |
5/10 |
- |
1 |
7-44189613-CCC-ATG |
c.532_534delinsCAT |
p.G178H |
Missense |
5/10 |
- |
1 |
7-44189613-CCC-GAT |
c.532_534delinsATC |
p.G178I |
Missense |
5/10 |
- |
1 |
7-44189613-CCC-GCT |
c.532_534delinsAGC |
p.G178S |
Missense |
5/10 |
- |
1 |
7-44189613-CCC-GTT |
c.532_534delinsAAC |
p.G178N |
Missense |
5/10 |
- |
1 |
7-44189613-CC-GT |
c.533_534delinsAC |
p.G178D |
Missense |
5/10 |
- |
1 |
7-44189613-C-G |
c.534G>C |
p.G178= |
Synonymous |
5/10 |
- |
1 |
7-44189613-C-T |
c.534G>A |
p.G178= |
Synonymous |
5/10 |
- |
2 |
7-44189614-C-A |
c.533G>T |
p.G178V |
Missense |
5/10 |
- |
4 |
7-44189614-CC-AG |
c.532_533delinsCT |
p.G178L |
Missense |
5/10 |
- |
1 |
7-44189614-CC-AT |
c.532_533delinsAT |
p.G178M |
Missense |
5/10 |
- |
1 |
7-44189614-CC-GG |
c.532_533inv |
p.G178P |
Missense |
5/10 |
- |
1 |
7-44189614-CC-GT |
c.532_533delinsAC |
p.G178T |
Missense |
5/10 |
- |
1 |
7-44189614-CC-TG |
c.532_533delinsCA |
p.G178Q |
Missense |
5/10 |
- |
1 |
7-44189614-CC-TT |
c.532_533delinsAA |
p.G178K |
Missense |
5/10 |
- |
1 |
7-44189614-C-G |
c.533G>C |
p.G178A |
Missense |
5/10 |
- |
3 |
7-44189614-C-T |
c.533G>A |
p.G178E |
Missense |
5/10 |
- |
12 |
7-44189615-C-A |
c.532G>T |
p.G178W |
Missense |
5/10 |
- |
1 |
7-44189615-C-G |
c.532G>C |
p.G178R |
Missense |
5/10 |
- |
2 |
7-44189615-C-T |
c.532G>A |
p.G178R |
Missense |
5/10 |
- |
6 |
7-44189616-T-A |
c.531A>T |
p.E177D |
Missense |
5/10 |
- |
2 |
7-44189616-T-G |
c.531A>C |
p.E177D |
Missense |
5/10 |
- |
2 |
7-44189616-TTC-AAA |
c.529_531delinsTTT |
p.E177F |
Missense |
5/10 |
- |
1 |
7-44189616-TTC-ACA |
c.529_531delinsTGT |
p.E177C |
Missense |
5/10 |
- |
1 |
7-44189616-TTC-ATA |
c.529_531delinsTAT |
p.E177Y |
Missense |
5/10 |
- |
1 |
7-44189616-TTC-ATG |
c.529_531delinsCAT |
p.E177H |
Missense |
5/10 |
- |
1 |
7-44189616-TTC-CAT |
c.529_531delinsATG |
p.E177M |
Missense |
5/10 |
- |
1 |
7-44189616-TTC-CCA |
c.529_531delinsTGG |
p.E177W |
Missense |
5/10 |
- |
1 |
7-44189616-TTC-GTT |
c.529_531delinsAAC |
p.E177N |
Missense |
5/10 |
- |
1 |
7-44189617-T-A |
c.530A>T |
p.E177V |
Missense |
5/10 |
- |
1 |
7-44189617-T-C |
c.530A>G |
p.E177G |
Missense |
5/10 |
- |
1 |
7-44189617-TC-AG |
c.529_530delinsCT |
p.E177L |
Missense |
5/10 |
- |
1 |
7-44189617-TC-AT |
c.529_530delinsAT |
p.E177I |
Missense |
5/10 |
- |
1 |
7-44189617-TC-CT |
c.529_530delinsAG |
p.E177R |
Missense |
5/10 |
- |
1 |
7-44189617-TC-GA |
c.529_530inv |
p.E177S |
Missense |
5/10 |
- |
1 |
7-44189617-TC-GG |
c.529_530delinsCC |
p.E177P |
Missense |
5/10 |
- |
1 |
7-44189617-TC-GT |
c.529_530delinsAC |
p.E177T |
Missense |
5/10 |
- |
1 |
7-44189617-T-G |
c.530A>C |
p.E177A |
Missense |
5/10 |
- |
1 |
7-44189618-C-G |
c.529G>C |
p.E177Q |
Missense |
5/10 |
- |
1 |
7-44189618-C-T |
c.529G>A |
p.E177K |
Missense |
5/10 |
- |
2 |
7-44189619-TGC-AAA |
c.526_528delinsTTT |
p.A176F |
Missense |
5/10 |
- |
1 |
7-44189619-TGC-ACA |
c.526_528delinsTGT |
p.A176C |
Missense |
5/10 |
- |
1 |
7-44189619-TGC-ATA |
c.526_528delinsTAT |
p.A176Y |
Missense |
5/10 |
- |
1 |
7-44189619-TGC-ATG |
c.526_528delinsCAT |
p.A176H |
Missense |
5/10 |
- |
1 |
7-44189619-TGC-CAT |
c.526_528delinsATG |
p.A176M |
Missense |
5/10 |
- |
1 |
7-44189619-TGC-CCA |
c.526_528delinsTGG |
p.A176W |
Missense |
5/10 |
- |
1 |
7-44189619-TGC-GTT |
c.526_528delinsAAC |
p.A176N |
Missense |
5/10 |
- |
1 |
7-44189619-TG-GT |
c.527_528delinsAC |
p.A176D |
Missense |
5/10 |
- |
1 |
7-44189620-G-A |
c.527C>T |
p.A176V |
Missense |
5/10 |
- |
1 |
7-44189620-G-C |
c.527C>G |
p.A176G |
Missense |
5/10 |
- |
5 |
7-44189620-GC-AG |
c.526_527delinsCT |
p.A176L |
Missense |
5/10 |
- |
1 |
7-44189620-GC-AT |
c.526_527delinsAT |
p.A176I |
Missense |
5/10 |
- |
1 |
7-44189620-GC-CT |
c.526_527delinsAG |
p.A176R |
Missense |
5/10 |
- |
2 |
7-44189620-GC-TG |
c.526_527delinsCA |
p.A176Q |
Missense |
5/10 |
- |
1 |
7-44189620-GC-TT |
c.526_527delinsAA |
p.A176K |
Missense |
5/10 |
- |
1 |
7-44189620-G-T |
c.527C>A |
p.A176E |
Missense |
5/10 |
- |
2 |
7-44189621-C-A |
c.526G>T |
p.A176S |
Missense |
5/10 |
- |
2 |
7-44189621-C-G |
c.526G>C |
p.A176P |
Missense |
5/10 |
- |
3 |
7-44189621-C-T |
c.526G>A |
p.A176T |
Missense |
5/10 |
- |
2 |
7-44189622-TCC-AAA |
c.523_525delinsTTT |
p.G175F |
Missense |
5/10 |
- |
1 |
7-44189622-TCC-ACA |
c.523_525delinsTGT |
p.G175C |
Missense |
5/10 |
- |
1 |
7-44189622-TCC-ATA |
c.523_525delinsTAT |
p.G175Y |
Missense |
5/10 |
- |
1 |
7-44189622-TCC-ATG |
c.523_525delinsCAT |
p.G175H |
Missense |
5/10 |
- |
1 |
7-44189622-TCC-CAT |
c.523_525delinsATG |
p.G175M |
Missense |
5/10 |
- |
1 |
7-44189622-TCC-CCA |
c.523_525delinsTGG |
p.G175W |
Missense |
5/10 |
- |
1 |
7-44189622-TCC-GCT |
c.523_525delinsAGC |
p.G175S |
Missense |
5/10 |
- |
1 |
7-44189622-TCC-GTT |
c.523_525delinsAAC |
p.G175N |
Missense |
5/10 |
- |
1 |
7-44189622-TC-GT |
c.524_525delinsAC |
p.G175D |
Missense |
5/10 |
- |
1 |
7-44189623-C-A |
c.524G>T |
p.G175V |
Missense |
5/10 |
- |
3 |
7-44189623-CC-AG |
c.523_524delinsCT |
p.G175L |
Missense |
5/10 |
- |
1 |
7-44189623-CC-AT |
c.523_524delinsAT |
p.G175I |
Missense |
5/10 |
- |
1 |
7-44189623-CC-GG |
c.523_524inv |
p.G175P |
Missense |
5/10 |
- |
1 |
7-44189623-CC-GT |
c.523_524delinsAC |
p.G175T |
Missense |
5/10 |
- |
1 |
7-44189623-CC-TG |
c.523_524delinsCA |
p.G175Q |
Missense |
5/10 |
- |
1 |
7-44189623-CC-TT |
c.523_524delinsAA |
p.G175K |
Missense |
5/10 |
- |
1 |
7-44189623-C-G |
c.524G>C |
p.G175A |
Missense |
5/10 |
- |
3 |
7-44189623-C-T |
c.524G>A |
p.G175E |
Missense |
5/10 |
- |
3 |
7-44189624-C-G |
c.523G>C |
p.G175R |
Missense |
5/10 |
- |
7 |
7-44189624-C-T |
c.523G>A |
p.G175R |
Missense |
5/10 |
- |
12 |
7-44189625-TG-AA |
c.521_522delinsTT |
p.S174F |
Missense |
5/10 |
- |
1 |
7-44189625-TGA-ATG |
c.520_522delinsCAT |
p.S174H |
Missense |
5/10 |
- |
1 |
7-44189625-TG-AC |
c.521_522delinsGT |
p.S174C |
Missense |
5/10 |
- |
1 |
7-44189625-TGA-CAT |
c.520_522delinsATG |
p.S174M |
Missense |
5/10 |
- |
1 |
7-44189625-TGA-GTC |
c.520_522delinsGAC |
p.S174D |
Missense |
5/10 |
- |
1 |
7-44189625-TGA-GTT |
c.520_522delinsAAC |
p.S174N |
Missense |
5/10 |
- |
1 |
7-44189625-TG-AT |
c.521_522delinsAT |
p.S174Y |
Missense |
5/10 |
- |
1 |
7-44189625-TG-CC |
c.521_522delinsGG |
p.S174W |
Missense |
5/10 |
- |
1 |
7-44189626-G-A |
c.521C>T |
p.S174L |
Missense |
5/10 |
- |
2 |
7-44189626-GA-AC |
c.520_521delinsGT |
p.S174V |
Missense |
5/10 |
- |
1 |
7-44189626-GA-AT |
c.520_521delinsAT |
p.S174I |
Missense |
5/10 |
- |
1 |
7-44189626-GA-CC |
c.520_521delinsGG |
p.S174G |
Missense |
5/10 |
- |
1 |
7-44189626-GA-CT |
c.520_521delinsAG |
p.S174R |
Missense |
5/10 |
- |
1 |
7-44189626-GA-TC |
c.520_521inv |
p.S174E |
Missense |
5/10 |
- |
1 |
7-44189626-GA-TG |
c.520_521delinsCA |
p.S174Q |
Missense |
5/10 |
- |
1 |
7-44189626-GA-TT |
c.520_521delinsAA |
p.S174K |
Missense |
5/10 |
- |
1 |
7-44189626-G-T |
c.521C>A |
p.S174* |
Nonsense |
5/10 |
- |
1 |
7-44189627-A-C |
c.520T>G |
p.S174A |
Missense |
5/10 |
- |
1 |
7-44189627-A-G |
c.520T>C |
p.S174P |
Missense |
5/10 |
- |
1 |
7-44189627-A-T |
c.520T>A |
p.S174T |
Missense |
5/10 |
- |
1 |
7-44189627-GAGGC-G |
c.517_520del |
p.A173Qfs*30 |
Frameshift |
5/10 |
- |
1 |
7-44189628-G-A |
c.519C>T |
p.A173= |
Synonymous |
5/10 |
- |
1 |
7-44189628-G-C |
c.519C>G |
p.A173= |
Synonymous |
5/10 |
- |
1 |
7-44189628-GGC-CAT |
c.517_519delinsATG |
p.A173M |
Missense |
5/10 |
- |
1 |
7-44189628-GGC-CCA |
c.517_519delinsTGG |
p.A173W |
Missense |
5/10 |
- |
1 |
7-44189628-GGC-CTT |
c.517_519delinsAAG |
p.A173K |
Missense |
5/10 |
- |
1 |
7-44189628-GG-CT |
c.518_519delinsAG |
p.A173E |
Missense |
5/10 |
- |
1 |
7-44189628-GGC-TTG |
c.517_519delinsCAA |
p.A173Q |
Missense |
5/10 |
- |
1 |
7-44189628-G-T |
c.519C>A |
p.A173= |
Synonymous |
5/10 |
- |
1 |
7-44189629-G-A |
c.518C>T |
p.A173V |
Missense |
5/10 |
- |
3 |
7-44189629-G-C |
c.518C>G |
p.A173G |
Missense |
5/10 |
- |
1 |
7-44189629-GC-AA |
c.517_518delinsTT |
p.A173F |
Missense |
5/10 |
- |
1 |
7-44189629-GC-AG |
c.517_518delinsCT |
p.A173L |
Missense |
5/10 |
- |
1 |
7-44189629-GC-AT |
c.517_518delinsAT |
p.A173I |
Missense |
5/10 |
- |
1 |
7-44189629-GC-CA |
c.517_518delinsTG |
p.A173C |
Missense |
5/10 |
- |
1 |
7-44189629-GC-CG |
c.517_518delinsCG |
p.A173R |
Missense |
5/10 |
- |
1 |
7-44189629-GC-TA |
c.517_518delinsTA |
p.A173Y |
Missense |
5/10 |
- |
1 |
7-44189629-GC-TG |
c.517_518delinsCA |
p.A173H |
Missense |
5/10 |
- |
1 |
7-44189629-GC-TT |
c.517_518delinsAA |
p.A173N |
Missense |
5/10 |
- |
1 |
7-44189629-G-T |
c.518C>A |
p.A173D |
Missense |
5/10 |
- |
1 |
7-44189630-C-A |
c.517G>T |
p.A173S |
Missense |
5/10 |
- |
3 |
7-44189630-C-G |
c.517G>C |
p.A173P |
Missense |
5/10 |
- |
1 |
7-44189630-C-T |
c.517G>A |
p.A173T |
Missense |
5/10 |
- |
2 |
7-44189631-C-A |
c.516G>T |
p.K172N |
Missense |
5/10 |
- |
1 |
7-44189631-C-G |
c.516G>C |
p.K172N |
Missense |
5/10 |
- |
1 |
7-44189631-C-T |
c.516G>A |
p.K172= |
Synonymous |
5/10 |
- |
1 |
7-44189631-CT-GA |
c.515_516delinsTC |
p.K172I |
Missense |
5/10 |
- |
1 |
7-44189631-CT-GC |
c.515_516delinsGC |
p.K172S |
Missense |
5/10 |
- |
1 |
7-44189631-CTT-AAA |
c.514_516delinsTTT |
p.K172F |
Missense |
5/10 |
- |
1 |
7-44189631-CTT-ACA |
c.514_516delinsTGT |
p.K172C |
Missense |
5/10 |
- |
1 |
7-44189631-CTT-ATA |
c.514_516delinsTAT |
p.K172Y |
Missense |
5/10 |
- |
1 |
7-44189631-CTT-ATG |
c.514_516delinsCAT |
p.K172H |
Missense |
5/10 |
- |
1 |
7-44189631-CTT-GTC |
c.514_516delinsGAC |
p.K172D |
Missense |
5/10 |
- |
1 |
7-44189632-T-A |
c.515A>T |
p.K172M |
Missense |
5/10 |
- |
1 |
7-44189632-T-C |
c.515A>G |
p.K172R |
Missense |
5/10 |
- |
1 |
7-44189632-T-G |
c.515A>C |
p.K172T |
Missense |
5/10 |
- |
1 |
7-44189632-TT-AC |
c.514_515delinsGT |
p.K172V |
Missense |
5/10 |
- |
1 |
7-44189632-TT-AG |
c.514_515delinsCT |
p.K172L |
Missense |
5/10 |
- |
1 |
7-44189632-TT-CA |
c.514_515delinsTG |
p.K172W |
Missense |
5/10 |
- |
1 |
7-44189632-TT-CC |
c.514_515delinsGG |
p.K172G |
Missense |
5/10 |
- |
1 |
7-44189632-TT-GC |
c.514_515delinsGC |
p.K172A |
Missense |
5/10 |
- |
1 |
7-44189632-TT-GG |
c.514_515delinsCC |
p.K172P |
Missense |
5/10 |
- |
1 |
7-44189633-T-C |
c.514A>G |
p.K172E |
Missense |
5/10 |
- |
1 |
7-44189633-T-G |
c.514A>C |
p.K172Q |
Missense |
5/10 |
- |
1 |
7-44189634-GAA-CAT |
c.511_513delinsATG |
p.F171M |
Missense |
5/10 |
- |
1 |
7-44189634-GAA-CTC |
c.511_513delinsGAG |
p.F171E |
Missense |
5/10 |
- |
1 |
7-44189634-GAA-CTT |
c.511_513delinsAAG |
p.F171K |
Missense |
5/10 |
- |
1 |
7-44189634-GAA-TTG |
c.511_513delinsCAA |
p.F171Q |
Missense |
5/10 |
- |
1 |
7-44189634-GA-CC |
c.512_513delinsGG |
p.F171W |
Missense |
5/10 |
- |
1 |
7-44189635-AA-CC |
c.511_512delinsGG |
p.F171G |
Missense |
5/10 |
- |
1 |
7-44189635-AA-CG |
c.511_512delinsCG |
p.F171R |
Missense |
5/10 |
- |
1 |
7-44189635-AA-GC |
c.511_512delinsGC |
p.F171A |
Missense |
5/10 |
- |
1 |
7-44189635-AA-GG |
c.511_512delinsCC |
p.F171P |
Missense |
5/10 |
- |
1 |
7-44189635-AA-GT |
c.511_512delinsAC |
p.F171T |
Missense |
5/10 |
- |
1 |
7-44189635-AA-TC |
c.511_512delinsGA |
p.F171D |
Missense |
5/10 |
- |
1 |
7-44189635-AA-TG |
c.511_512delinsCA |
p.F171H |
Missense |
5/10 |
- |
1 |
7-44189635-AA-TT |
c.511_512inv |
p.F171N |
Missense |
5/10 |
- |
1 |
7-44189635-A-C |
c.512T>G |
p.F171C |
Missense |
5/10 |
- |
2 |
7-44189635-A-G |
c.512T>C |
p.F171S |
Missense |
5/10 |
- |
1 |
7-44189635-A-T |
c.512T>A |
p.F171Y |
Missense |
5/10 |
- |
1 |
7-44189634-G-C |
c.513C>G |
p.F171L |
Missense |
5/10 |
- |
5 |
7-44189634-G-T |
c.513C>A |
p.F171L |
Missense |
5/10 |
- |
5 |
7-44189636-A-C |
c.511T>G |
p.F171V |
Missense |
5/10 |
- |
2 |
7-44189636-A-G |
c.511T>C |
p.F171L |
Missense |
5/10 |
- |
6 |
7-44189636-A-T |
c.511T>A |
p.F171I |
Missense |
5/10 |
- |
1 |
7-44189637-GCC-CAT |
c.508_510delinsATG |
p.G170M |
Missense |
5/10 |
- |
1 |
7-44189637-GCC-CCA |
c.508_510delinsTGG |
p.G170W |
Missense |
5/10 |
- |
1 |
7-44189637-GCC-CTT |
c.508_510delinsAAG |
p.G170K |
Missense |
5/10 |
- |
1 |
7-44189637-GC-CT |
c.509_510delinsAG |
p.G170E |
Missense |
5/10 |
- |
1 |
7-44189637-GCC-TTG |
c.508_510delinsCAA |
p.G170Q |
Missense |
5/10 |
- |
1 |
7-44189638-C-A |
c.509G>T |
p.G170V |
Missense |
5/10 |
- |
5 |
7-44189638-CC-AA |
c.508_509delinsTT |
p.G170F |
Missense |
5/10 |
- |
1 |
7-44189638-CC-AG |
c.508_509delinsCT |
p.G170L |
Missense |
5/10 |
- |
1 |
7-44189638-CC-AT |
c.508_509delinsAT |
p.G170I |
Missense |
5/10 |
- |
1 |
7-44189638-CC-GG |
c.508_509inv |
p.G170P |
Missense |
5/10 |
- |
1 |
7-44189638-CC-GT |
c.508_509delinsAC |
p.G170T |
Missense |
5/10 |
- |
1 |
7-44189638-CC-TA |
c.508_509delinsTA |
p.G170Y |
Missense |
5/10 |
- |
1 |
7-44189638-CC-TG |
c.508_509delinsCA |
p.G170H |
Missense |
5/10 |
- |
1 |
7-44189638-CC-TT |
c.508_509delinsAA |
p.G170N |
Missense |
5/10 |
- |
1 |
7-44189638-C-G |
c.509G>C |
p.G170A |
Missense |
5/10 |
- |
1 |
7-44189638-C-T |
c.509G>A |
p.G170D |
Missense |
5/10 |
- |
3 |
7-44189639-C-A |
c.508G>T |
p.G170C |
Missense |
5/10 |
- |
1 |
7-44189639-C-G |
c.508G>C |
p.G170R |
Missense |
5/10 |
- |
1 |
7-44189639-C-T |
c.508G>A |
p.G170S |
Missense |
5/10 |
- |
8 |
7-44189640-C-A |
c.507G>T |
p.K169N |
Missense |
5/10 |
- |
4 |
7-44189640-C-G |
c.507G>C |
p.K169N |
Missense |
5/10 |
- |
6 |
7-44189640-CT-GA |
c.506_507delinsTC |
p.K169I |
Missense |
5/10 |
- |
1 |
7-44189640-CT-GC |
c.506_507delinsGC |
p.K169S |
Missense |
5/10 |
- |
1 |
7-44189640-CTT-AAA |
c.505_507delinsTTT |
p.K169F |
Missense |
5/10 |
- |
1 |
7-44189640-CTT-ACA |
c.505_507delinsTGT |
p.K169C |
Missense |
5/10 |
- |
1 |
7-44189640-CTT-ATA |
c.505_507delinsTAT |
p.K169Y |
Missense |
5/10 |
- |
1 |
7-44189640-CTT-ATG |
c.505_507delinsCAT |
p.K169H |
Missense |
5/10 |
- |
1 |
7-44189640-CTT-GTC |
c.505_507delinsGAC |
p.K169D |
Missense |
5/10 |
- |
1 |
7-44189641-T-A |
c.506A>T |
p.K169M |
Missense |
5/10 |
- |
1 |
7-44189641-T-C |
c.506A>G |
p.K169R |
Missense |
5/10 |
- |
9 |
7-44189641-T-G |
c.506A>C |
p.K169T |
Missense |
5/10 |
- |
1 |
7-44189641-TT-AC |
c.505_506delinsGT |
p.K169V |
Missense |
5/10 |
- |
1 |
7-44189641-TT-AG |
c.505_506delinsCT |
p.K169L |
Missense |
5/10 |
- |
1 |
7-44189641-TT-CA |
c.505_506delinsTG |
p.K169W |
Missense |
5/10 |
- |
1 |
7-44189641-TT-CC |
c.505_506delinsGG |
p.K169G |
Missense |
5/10 |
- |
1 |
7-44189641-TT-GC |
c.505_506delinsGC |
p.K169A |
Missense |
5/10 |
- |
2 |
7-44189641-TT-GG |
c.505_506delinsCC |
p.K169P |
Missense |
5/10 |
- |
1 |
7-44189640-CT-C |
c.506del |
p.K169Rfs*35 |
Frameshift |
5/10 |
- |
1 |
7-44189642-T-C |
c.505A>G |
p.K169E |
Missense |
5/10 |
- |
4 |
7-44189642-T-G |
c.505A>C |
p.K169Q |
Missense |
5/10 |
- |
2 |
7-44189643-GG-CA |
c.503_504delinsTG |
p.T168M |
Missense |
5/10 |
- |
1 |
7-44189643-GG-CC |
c.503_504inv |
p.T168R |
Missense |
5/10 |
- |
1 |
7-44189643-GG-CT |
c.503_504delinsAG |
p.T168K |
Missense |
5/10 |
- |
1 |
7-44189643-GGT-CCA |
c.502_504delinsTGG |
p.T168W |
Missense |
5/10 |
- |
1 |
7-44189643-GGT-CTC |
c.502_504delinsGAG |
p.T168E |
Missense |
5/10 |
- |
1 |
7-44189643-GGT-TTG |
c.502_504delinsCAA |
p.T168Q |
Missense |
5/10 |
- |
1 |
7-44189644-G-A |
c.503C>T |
p.T168I |
Missense |
5/10 |
- |
3 |
7-44189644-G-C |
c.503C>G |
p.T168S |
Missense |
5/10 |
- |
1 |
7-44189644-G-T |
c.503C>A |
p.T168N |
Missense |
5/10 |
- |
2 |
7-44189644-GT-AA |
c.502_503delinsTT |
p.T168F |
Missense |
5/10 |
- |
1 |
7-44189644-GT-AC |
c.502_503inv |
p.T168V |
Missense |
5/10 |
- |
1 |
7-44189644-GT-AG |
c.502_503delinsCT |
p.T168L |
Missense |
5/10 |
- |
1 |
7-44189644-GT-CA |
c.502_503delinsTG |
p.T168C |
Missense |
5/10 |
- |
1 |
7-44189644-GT-CC |
c.502_503delinsGG |
p.T168G |
Missense |
5/10 |
- |
1 |
7-44189644-GT-TA |
c.502_503delinsTA |
p.T168Y |
Missense |
5/10 |
- |
1 |
7-44189644-GT-TC |
c.502_503delinsGA |
p.T168D |
Missense |
5/10 |
- |
1 |
7-44189644-GT-TG |
c.502_503delinsCA |
p.T168H |
Missense |
5/10 |
- |
1 |
7-44189645-T-A |
c.502A>T |
p.T168S |
Missense |
5/10 |
- |
1 |
7-44189645-T-C |
c.502A>G |
p.T168A |
Missense |
5/10 |
- |
15 |
7-44189645-T-G |
c.502A>C |
p.T168P |
Missense |
5/10 |
- |
6 |
7-44189646-C-A |
c.501G>T |
p.W167C |
Missense |
5/10 |
- |
1 |
7-44189646-CC-AA |
c.500_501delinsTT |
p.W167F |
Missense |
5/10 |
- |
3 |
7-44189646-CCA-ATG |
c.499_501delinsCAT |
p.W167H |
Missense |
5/10 |
- |
1 |
7-44189646-CCA-GAT |
c.499_501delinsATC |
p.W167I |
Missense |
5/10 |
- |
1 |
7-44189646-CCA-GTC |
c.499_501delinsGAC |
p.W167D |
Missense |
5/10 |
- |
1 |
7-44189646-CCA-GTT |
c.499_501delinsAAC |
p.W167N |
Missense |
5/10 |
- |
1 |
7-44189646-CC-AT |
c.500_501delinsAT |
p.W167Y |
Missense |
5/10 |
- |
1 |
7-44189646-C-G |
c.501G>C |
p.W167C |
Missense |
5/10 |
- |
2 |
7-44189646-C-T |
c.501G>A |
p.W167* |
Nonsense |
5/10 |
- |
3 |
7-44189647-C-A |
c.500G>T |
p.W167L |
Missense |
5/10 |
- |
1 |
7-44189647-CA-AC |
c.499_500delinsGT |
p.W167V |
Missense |
5/10 |
- |
1 |
7-44189647-CA-AT |
c.499_500delinsAT |
p.W167M |
Missense |
5/10 |
- |
1 |
7-44189647-CA-GC |
c.499_500delinsGC |
p.W167A |
Missense |
5/10 |
- |
1 |
7-44189647-CA-GG |
c.499_500delinsCC |
p.W167P |
Missense |
5/10 |
- |
1 |
7-44189647-CA-GT |
c.499_500delinsAC |
p.W167T |
Missense |
5/10 |
- |
1 |
7-44189647-CA-TC |
c.499_500delinsGA |
p.W167E |
Missense |
5/10 |
- |
1 |
7-44189647-CA-TG |
c.499_500inv |
p.W167Q |
Missense |
5/10 |
- |
1 |
7-44189647-CA-TT |
c.499_500delinsAA |
p.W167K |
Missense |
5/10 |
- |
1 |
7-44189647-C-G |
c.500G>C |
p.W167S |
Missense |
5/10 |
- |
1 |
7-44189647-C-T |
c.500G>A |
p.W167* |
Nonsense |
5/10 |
- |
5 |
7-44189648-A-C |
c.499T>G |
p.W167G |
Missense |
5/10 |
- |
1 |
7-44189648-A-G |
c.499T>C |
p.W167R |
Missense |
5/10 |
- |
4 |
7-44189648-A-T |
c.499T>A |
p.W167R |
Missense |
5/10 |
- |
2 |
7-44189649-G-C |
c.498C>G |
p.N166K |
Missense |
5/10 |
- |
1 |
7-44189649-G-T |
c.498C>A |
p.N166K |
Missense |
5/10 |
- |
1 |
7-44189649-GT-CA |
c.497_498delinsTG |
p.N166M |
Missense |
5/10 |
- |
1 |
7-44189649-GT-CC |
c.497_498delinsGG |
p.N166R |
Missense |
5/10 |
- |
2 |
7-44189649-GTT-CCA |
c.496_498delinsTGG |
p.N166W |
Missense |
5/10 |
- |
1 |
7-44189649-GTT-CTC |
c.496_498delinsGAG |
p.N166E |
Missense |
5/10 |
- |
1 |
7-44189649-GTT-TTG |
c.496_498delinsCAA |
p.N166Q |
Missense |
5/10 |
- |
1 |
7-44189650-T-A |
c.497A>T |
p.N166I |
Missense |
5/10 |
- |
2 |
7-44189650-T-C |
c.497A>G |
p.N166S |
Missense |
5/10 |
- |
1 |
7-44189650-T-G |
c.497A>C |
p.N166T |
Missense |
5/10 |
- |
1 |
7-44189650-TT-AA |
c.496_497inv |
p.N166F |
Missense |
5/10 |
- |
1 |
7-44189650-TT-AC |
c.496_497delinsGT |
p.N166V |
Missense |
5/10 |
- |
1 |
7-44189650-TT-AG |
c.496_497delinsCT |
p.N166L |
Missense |
5/10 |
- |
1 |
7-44189650-TT-CA |
c.496_497delinsTG |
p.N166C |
Missense |
5/10 |
- |
1 |
7-44189650-TT-CC |
c.496_497delinsGG |
p.N166G |
Missense |
5/10 |
- |
1 |
7-44189650-TT-GC |
c.496_497delinsGC |
p.N166A |
Missense |
5/10 |
- |
1 |
7-44189650-TT-GG |
c.496_497delinsCC |
p.N166P |
Missense |
5/10 |
- |
1 |
7-44189651-T-A |
c.496A>T |
p.N166Y |
Missense |
5/10 |
- |
1 |
7-44189651-T-C |
c.496A>G |
p.N166D |
Missense |
5/10 |
- |
1 |
7-44189651-T-G |
c.496A>C |
p.N166H |
Missense |
5/10 |
- |
1 |
7-44189652-GAG-CAT |
c.493_495delinsATG |
p.L165M |
Missense |
5/10 |
- |
1 |
7-44189652-GAG-CCA |
c.493_495delinsTGG |
p.L165W |
Missense |
5/10 |
- |
1 |
7-44189652-GAG-CTC |
c.493_495inv |
p.L165E |
Missense |
5/10 |
- |
1 |
7-44189652-GAG-CTT |
c.493_495delinsAAG |
p.L165K |
Missense |
5/10 |
- |
1 |
7-44189652-GA-TT |
c.494_495delinsAA |
p.L165Q |
Missense |
5/10 |
- |
1 |
7-44189653-A-C |
c.494T>G |
p.L165R |
Missense |
5/10 |
- |
1 |
7-44189653-A-G |
c.494T>C |
p.L165P |
Missense |
5/10 |
- |
2 |
7-44189653-AG-CA |
c.493_494delinsTG |
p.L165C |
Missense |
5/10 |
- |
1 |
7-44189653-AG-CC |
c.493_494delinsGG |
p.L165G |
Missense |
5/10 |
- |
1 |
7-44189653-AG-CT |
c.493_494inv |
p.L165S |
Missense |
5/10 |
- |
1 |
7-44189653-AG-GC |
c.493_494delinsGC |
p.L165A |
Missense |
5/10 |
- |
1 |
7-44189653-AG-GT |
c.493_494delinsAC |
p.L165T |
Missense |
5/10 |
- |
1 |
7-44189653-AG-TA |
c.493_494delinsTA |
p.L165Y |
Missense |
5/10 |
- |
1 |
7-44189653-AG-TC |
c.493_494delinsGA |
p.L165D |
Missense |
5/10 |
- |
1 |
7-44189653-AG-TT |
c.493_494delinsAA |
p.L165N |
Missense |
5/10 |
- |
1 |
7-44189653-A-T |
c.494T>A |
p.L165H |
Missense |
5/10 |
- |
1 |
7-44189654-G-A |
c.493C>T |
p.L165F |
Missense |
5/10 |
- |
6 |
7-44189654-G-C |
c.493C>G |
p.L165V |
Missense |
5/10 |
- |
1 |
7-44189654-G-T |
c.493C>A |
p.L165I |
Missense |
5/10 |
- |
1 |
7-44189655-AAG-CAT |
c.490_492delinsATG |
p.L164M |
Missense |
5/10 |
- |
1 |
7-44189655-AAG-CCA |
c.490_492delinsTGG |
p.L164W |
Missense |
5/10 |
- |
1 |
7-44189655-AAG-CTC |
c.490_492delinsGAG |
p.L164E |
Missense |
5/10 |
- |
1 |
7-44189655-AAG-CTT |
c.490_492inv |
p.L164K |
Missense |
5/10 |
- |
1 |
7-44189655-AA-TT |
c.491_492inv |
p.L164Q |
Missense |
5/10 |
- |
1 |
7-44189656-A-C |
c.491T>G |
p.L164R |
Missense |
5/10 |
- |
1 |
7-44189656-A-G |
c.491T>C |
p.L164P |
Missense |
5/10 |
- |
7 |
7-44189656-AG-CA |
c.490_491delinsTG |
p.L164C |
Missense |
5/10 |
- |
1 |
7-44189656-AG-CC |
c.490_491delinsGG |
p.L164G |
Missense |
5/10 |
- |
1 |
7-44189656-AG-CT |
c.490_491inv |
p.L164S |
Missense |
5/10 |
- |
1 |
7-44189656-AG-GC |
c.490_491delinsGC |
p.L164A |
Missense |
5/10 |
- |
1 |
7-44189656-AG-GT |
c.490_491delinsAC |
p.L164T |
Missense |
5/10 |
- |
1 |
7-44189656-AG-TA |
c.490_491delinsTA |
p.L164Y |
Missense |
5/10 |
- |
1 |
7-44189656-AG-TC |
c.490_491delinsGA |
p.L164D |
Missense |
5/10 |
- |
1 |
7-44189656-AG-TT |
c.490_491delinsAA |
p.L164N |
Missense |
5/10 |
- |
1 |
7-44189656-A-T |
c.491T>A |
p.L164H |
Missense |
5/10 |
- |
1 |
7-44189657-G-A |
c.490C>T |
p.L164F |
Missense |
5/10 |
- |
5 |
7-44189657-G-C |
c.490C>G |
p.L164V |
Missense |
5/10 |
- |
1 |
7-44189657-G-T |
c.490C>A |
p.L164I |
Missense |
5/10 |
- |
1 |
7-44189656-AG-A |
c.490del |
p.L164Ffs*40 |
Frameshift |
5/10 |
- |
1 |
7-44189658-GA-CC |
c.488_489delinsGG |
p.I163R |
Missense |
5/10 |
- |
1 |
7-44189658-GA-CT |
c.488_489delinsAG |
p.I163K |
Missense |
5/10 |
- |
1 |
7-44189658-GAT-CCA |
c.487_489delinsTGG |
p.I163W |
Missense |
5/10 |
- |
1 |
7-44189658-GAT-CTC |
c.487_489delinsGAG |
p.I163E |
Missense |
5/10 |
- |
1 |
7-44189658-GAT-TTG |
c.487_489delinsCAA |
p.I163Q |
Missense |
5/10 |
- |
1 |
7-44189658-G-C |
c.489C>G |
p.I163M |
Missense |
5/10 |
- |
1 |
7-44189659-A-C |
c.488T>G |
p.I163S |
Missense |
5/10 |
- |
1 |
7-44189659-A-G |
c.488T>C |
p.I163T |
Missense |
5/10 |
- |
1 |
7-44189659-A-T |
c.488T>A |
p.I163N |
Missense |
5/10 |
- |
2 |
7-44189659-AT-CA |
c.487_488delinsTG |
p.I163C |
Missense |
5/10 |
- |
1 |
7-44189659-AT-CC |
c.487_488delinsGG |
p.I163G |
Missense |
5/10 |
- |
1 |
7-44189659-AT-GC |
c.487_488delinsGC |
p.I163A |
Missense |
5/10 |
- |
1 |
7-44189659-AT-GG |
c.487_488delinsCC |
p.I163P |
Missense |
5/10 |
- |
1 |
7-44189659-AT-TA |
c.487_488delinsTA |
p.I163Y |
Missense |
5/10 |
- |
1 |
7-44189659-AT-TC |
c.487_488delinsGA |
p.I163D |
Missense |
5/10 |
- |
1 |
7-44189659-AT-TG |
c.487_488delinsCA |
p.I163H |
Missense |
5/10 |
- |
1 |
7-44189660-T-A |
c.487A>T |
p.I163F |
Missense |
5/10 |
- |
1 |
7-44189660-T-C |
c.487A>G |
p.I163V |
Missense |
5/10 |
- |
1 |
7-44189660-T-G |
c.487A>C |
p.I163L |
Missense |
5/10 |
- |
2 |
7-44189661-GCC-CAT |
c.484_486delinsATG |
p.G162M |
Missense |
5/10 |
- |
1 |
7-44189661-GCC-CCA |
c.484_486delinsTGG |
p.G162W |
Missense |
5/10 |
- |
1 |
7-44189661-GCC-CTT |
c.484_486delinsAAG |
p.G162K |
Missense |
5/10 |
- |
1 |
7-44189661-GC-CT |
c.485_486delinsAG |
p.G162E |
Missense |
5/10 |
- |
1 |
7-44189661-GCC-TTG |
c.484_486delinsCAA |
p.G162Q |
Missense |
5/10 |
- |
1 |
7-44189662-C-A |
c.485G>T |
p.G162V |
Missense |
5/10 |
- |
1 |
7-44189662-CC-AA |
c.484_485delinsTT |
p.G162F |
Missense |
5/10 |
- |
1 |
7-44189662-CC-AG |
c.484_485delinsCT |
p.G162L |
Missense |
5/10 |
- |
1 |
7-44189662-CC-AT |
c.484_485delinsAT |
p.G162I |
Missense |
5/10 |
- |
1 |
7-44189662-CC-GG |
c.484_485inv |
p.G162P |
Missense |
5/10 |
- |
1 |
7-44189662-CC-GT |
c.484_485delinsAC |
p.G162T |
Missense |
5/10 |
- |
1 |
7-44189662-CC-TA |
c.484_485delinsTA |
p.G162Y |
Missense |
5/10 |
- |
1 |
7-44189662-CC-TG |
c.484_485delinsCA |
p.G162H |
Missense |
5/10 |
- |
1 |
7-44189662-CC-TT |
c.484_485delinsAA |
p.G162N |
Missense |
5/10 |
- |
1 |
7-44189662-C-G |
c.485G>C |
p.G162A |
Missense |
5/10 |
- |
1 |
7-44189662-C-T |
c.485G>A |
p.G162D |
Missense |
5/10 |
- |
8 |
7-44189663-C-A |
c.484G>T |
p.G162C |
Missense |
5/10 |
- |
1 |
7-44189663-C-G |
c.484G>C |
p.G162R |
Missense |
5/10 |
- |
1 |
7-44189663-C-T |
c.484G>A |
p.G162S |
Missense |
5/10 |
- |
5 |
7-44189904-C-CA |
c.484-242_484-241insT |
- |
IntronicInsertion |
- |
4/9 |
1 |
7-44190332-T-C |
c.483+223A>G |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190351-C-T |
c.483+204G>A |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190392-A-T |
c.483+163T>A |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190431-G-T |
c.483+124C>A |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190438-A-G |
c.483+117T>C |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190468-T-G |
c.483+87A>C |
- |
IntronicSNV |
- |
4/9 |
15 |
7-44190497-T-A |
c.483+58A>T |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190500-C-T |
c.483+55G>A |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190522-C-T |
c.483+33G>A |
- |
IntronicSNV |
- |
4/9 |
2 |
7-44190529-G-T |
c.483+26C>A |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190541-T-C |
c.483+14A>G |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190538-CCCTCCACCCGGCCCA-C |
c.483+2_483+16del |
- |
IntronicDeletion |
4/10 |
4/9 |
2 |
7-44190547-C-T |
c.483+8G>A |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190551-CCA-C |
c.483+2_483+3del |
- |
SpliceDonorDeletion |
- |
4/9 |
1 |
7-44190553-A-G |
c.483+2T>C |
- |
IntronicSNV |
- |
4/9 |
3 |
7-44190553-A-T |
c.483+2T>A |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190554-C-T |
c.483+1G>A |
- |
IntronicSNV |
- |
4/9 |
1 |
7-44190555-C-A |
c.483G>T |
p.K161N |
Missense |
4/10 |
- |
1 |
7-44190555-C-G |
c.483G>C |
p.K161N |
Missense |
4/10 |
- |
1 |
7-44190555-C-T |
c.483G>A |
p.K161= |
Synonymous |
4/10 |
- |
3 |
7-44190555-CT-GA |
c.482_483delinsTC |
p.K161I |
Missense |
4/10 |
- |
1 |
7-44190555-CT-GC |
c.482_483delinsGC |
p.K161S |
Missense |
4/10 |
- |
1 |
7-44190555-CTT-AAA |
c.481_483delinsTTT |
p.K161F |
Missense |
4/10 |
- |
1 |
7-44190555-CTT-ACA |
c.481_483delinsTGT |
p.K161C |
Missense |
4/10 |
- |
1 |
7-44190555-CTT-ATA |
c.481_483delinsTAT |
p.K161Y |
Missense |
4/10 |
- |
1 |
7-44190555-CTT-ATG |
c.481_483delinsCAT |
p.K161H |
Missense |
4/10 |
- |
1 |
7-44190555-CTT-GTC |
c.481_483delinsGAC |
p.K161D |
Missense |
4/10 |
- |
1 |
7-44190556-T-A |
c.482A>T |
p.K161M |
Missense |
4/10 |
- |
1 |
7-44190556-T-C |
c.482A>G |
p.K161R |
Missense |
4/10 |
- |
1 |
7-44190556-T-G |
c.482A>C |
p.K161T |
Missense |
4/10 |
- |
1 |
7-44190556-TT-AC |
c.481_482delinsGT |
p.K161V |
Missense |
4/10 |
- |
1 |
7-44190556-TT-AG |
c.481_482delinsCT |
p.K161L |
Missense |
4/10 |
- |
1 |
7-44190556-TT-CA |
c.481_482delinsTG |
p.K161W |
Missense |
4/10 |
- |
1 |
7-44190556-TT-CC |
c.481_482delinsGG |
p.K161G |
Missense |
4/10 |
- |
1 |
7-44190556-TT-GC |
c.481_482delinsGC |
p.K161A |
Missense |
4/10 |
- |
1 |
7-44190556-TT-GG |
c.481_482delinsCC |
p.K161P |
Missense |
4/10 |
- |
1 |
7-44190555-CT-C |
c.482del |
p.K161Rfs*43 |
Frameshift |
4/10 |
- |
1 |
7-44190557-T-C |
c.481A>G |
p.K161E |
Missense |
4/10 |
- |
1 |
7-44190557-T-G |
c.481A>C |
p.K161Q |
Missense |
4/10 |
- |
1 |
7-44190558-A-C |
c.480T>G |
p.D160E |
Missense |
4/10 |
- |
2 |
7-44190558-A-T |
c.480T>A |
p.D160E |
Missense |
4/10 |
- |
1 |
7-44190558-ATC-CAT |
c.478_480delinsATG |
p.D160M |
Missense |
4/10 |
- |
1 |
7-44190558-ATC-CCA |
c.478_480delinsTGG |
p.D160W |
Missense |
4/10 |
- |
1 |
7-44190558-ATC-CTT |
c.478_480delinsAAG |
p.D160K |
Missense |
4/10 |
- |
1 |
7-44190558-ATC-TTG |
c.478_480delinsCAA |
p.D160Q |
Missense |
4/10 |
- |
1 |
7-44190559-T-A |
c.479A>T |
p.D160V |
Missense |
4/10 |
- |
1 |
7-44190559-T-C |
c.479A>G |
p.D160G |
Missense |
4/10 |
- |
1 |
7-44190559-TC-AA |
c.478_479delinsTT |
p.D160F |
Missense |
4/10 |
- |
1 |
7-44190559-TC-AG |
c.478_479delinsCT |
p.D160L |
Missense |
4/10 |
- |
1 |
7-44190559-TC-AT |
c.478_479delinsAT |
p.D160I |
Missense |
4/10 |
- |
1 |
7-44190559-TC-CA |
c.478_479delinsTG |
p.D160C |
Missense |
4/10 |
- |
1 |
7-44190559-TC-CG |
c.478_479delinsCG |
p.D160R |
Missense |
4/10 |
- |
1 |
7-44190559-TC-CT |
c.478_479delinsAG |
p.D160S |
Missense |
4/10 |
- |
1 |
7-44190559-TC-GG |
c.478_479delinsCC |
p.D160P |
Missense |
4/10 |
- |
1 |
7-44190559-TC-GT |
c.478_479delinsAC |
p.D160T |
Missense |
4/10 |
- |
1 |
7-44190559-T-G |
c.479A>C |
p.D160A |
Missense |
4/10 |
- |
1 |
7-44190560-C-A |
c.478G>T |
p.D160Y |
Missense |
4/10 |
- |
4 |
7-44190560-C-G |
c.478G>C |
p.D160H |
Missense |
4/10 |
- |
3 |
7-44190560-C-T |
c.478G>A |
p.D160N |
Missense |
4/10 |
- |
17 |
7-44190561-G-A |
c.477C>T |
p.I159= |
Synonymous |
4/10 |
- |
2 |
7-44190561-GA-CC |
c.476_477delinsGG |
p.I159R |
Missense |
4/10 |
- |
1 |
7-44190561-GA-CT |
c.476_477delinsAG |
p.I159K |
Missense |
4/10 |
- |
1 |
7-44190561-GAT-CCA |
c.475_477delinsTGG |
p.I159W |
Missense |
4/10 |
- |
1 |
7-44190561-GAT-CTC |
c.475_477delinsGAG |
p.I159E |
Missense |
4/10 |
- |
1 |
7-44190561-GAT-TTG |
c.475_477delinsCAA |
p.I159Q |
Missense |
4/10 |
- |
1 |
7-44190561-G-C |
c.477C>G |
p.I159M |
Missense |
4/10 |
- |
1 |
7-44190562-A-C |
c.476T>G |
p.I159S |
Missense |
4/10 |
- |
1 |
7-44190562-A-G |
c.476T>C |
p.I159T |
Missense |
4/10 |
- |
1 |
7-44190562-A-T |
c.476T>A |
p.I159N |
Missense |
4/10 |
- |
4 |
7-44190562-AT-CA |
c.475_476delinsTG |
p.I159C |
Missense |
4/10 |
- |
1 |
7-44190562-AT-CC |
c.475_476delinsGG |
p.I159G |
Missense |
4/10 |
- |
1 |
7-44190562-AT-GC |
c.475_476delinsGC |
p.I159A |
Missense |
4/10 |
- |
2 |
7-44190562-AT-GG |
c.475_476delinsCC |
p.I159P |
Missense |
4/10 |
- |
1 |
7-44190562-AT-TA |
c.475_476delinsTA |
p.I159Y |
Missense |
4/10 |
- |
1 |
7-44190562-AT-TC |
c.475_476delinsGA |
p.I159D |
Missense |
4/10 |
- |
1 |
7-44190562-AT-TG |
c.475_476delinsCA |
p.I159H |
Missense |
4/10 |
- |
1 |
7-44190563-T-A |
c.475A>T |
p.I159F |
Missense |
4/10 |
- |
1 |
7-44190563-T-C |
c.475A>G |
p.I159V |
Missense |
4/10 |
- |
3 |
7-44190563-T-G |
c.475A>C |
p.I159L |
Missense |
4/10 |
- |
2 |
7-44190564-G-C |
c.474C>G |
p.D158E |
Missense |
4/10 |
- |
1 |
7-44190564-G-T |
c.474C>A |
p.D158E |
Missense |
4/10 |
- |
2 |
7-44190564-GTC-CAT |
c.472_474delinsATG |
p.D158M |
Missense |
4/10 |
- |
1 |
7-44190564-GTC-CCA |
c.472_474delinsTGG |
p.D158W |
Missense |
4/10 |
- |
1 |
7-44190564-GTC-CTT |
c.472_474delinsAAG |
p.D158K |
Missense |
4/10 |
- |
1 |
7-44190564-GTC-TTG |
c.472_474delinsCAA |
p.D158Q |
Missense |
4/10 |
- |
1 |
7-44190565-T-A |
c.473A>T |
p.D158V |
Missense |
4/10 |
- |
1 |
7-44190565-T-C |
c.473A>G |
p.D158G |
Missense |
4/10 |
- |
1 |
7-44190565-TC-AA |
c.472_473delinsTT |
p.D158F |
Missense |
4/10 |
- |
1 |
7-44190565-TC-AG |
c.472_473delinsCT |
p.D158L |
Missense |
4/10 |
- |
1 |
7-44190565-TC-AT |
c.472_473delinsAT |
p.D158I |
Missense |
4/10 |
- |
1 |
7-44190565-TC-CA |
c.472_473delinsTG |
p.D158C |
Missense |
4/10 |
- |
1 |
7-44190565-TC-CG |
c.472_473delinsCG |
p.D158R |
Missense |
4/10 |
- |
1 |
7-44190565-TC-CT |
c.472_473delinsAG |
p.D158S |
Missense |
4/10 |
- |
1 |
7-44190565-TC-GG |
c.472_473delinsCC |
p.D158P |
Missense |
4/10 |
- |
1 |
7-44190565-TC-GT |
c.472_473delinsAC |
p.D158T |
Missense |
4/10 |
- |
1 |
7-44190565-T-G |
c.473A>C |
p.D158A |
Missense |
4/10 |
- |
2 |
7-44190566-C-A |
c.472G>T |
p.D158Y |
Missense |
4/10 |
- |
3 |
7-44190566-C-G |
c.472G>C |
p.D158H |
Missense |
4/10 |
- |
1 |
7-44190566-C-T |
c.472G>A |
p.D158N |
Missense |
4/10 |
- |
1 |
7-44190567-T-A |
c.471A>T |
p.E157D |
Missense |
4/10 |
- |
1 |
7-44190567-T-G |
c.471A>C |
p.E157D |
Missense |
4/10 |
- |
1 |
7-44190567-TTC-AAA |
c.469_471delinsTTT |
p.E157F |
Missense |
4/10 |
- |
1 |
7-44190567-TTC-ACA |
c.469_471delinsTGT |
p.E157C |
Missense |
4/10 |
- |
1 |
7-44190567-TTC-ATA |
c.469_471delinsTAT |
p.E157Y |
Missense |
4/10 |
- |
1 |
7-44190567-TTC-ATG |
c.469_471delinsCAT |
p.E157H |
Missense |
4/10 |
- |
1 |
7-44190567-TTC-CAT |
c.469_471delinsATG |
p.E157M |
Missense |
4/10 |
- |
1 |
7-44190567-TTC-CCA |
c.469_471delinsTGG |
p.E157W |
Missense |
4/10 |
- |
1 |
7-44190567-TTC-GTT |
c.469_471delinsAAC |
p.E157N |
Missense |
4/10 |
- |
1 |
7-44190568-T-A |
c.470A>T |
p.E157V |
Missense |
4/10 |
- |
1 |
7-44190568-T-C |
c.470A>G |
p.E157G |
Missense |
4/10 |
- |
1 |
7-44190568-TC-AG |
c.469_470delinsCT |
p.E157L |
Missense |
4/10 |
- |
2 |
7-44190568-TC-AT |
c.469_470delinsAT |
p.E157I |
Missense |
4/10 |
- |
1 |
7-44190568-TC-CT |
c.469_470delinsAG |
p.E157R |
Missense |
4/10 |
- |
1 |
7-44190568-TC-GA |
c.469_470inv |
p.E157S |
Missense |
4/10 |
- |
1 |
7-44190568-TC-GG |
c.469_470delinsCC |
p.E157P |
Missense |
4/10 |
- |
1 |
7-44190568-TC-GT |
c.469_470delinsAC |
p.E157T |
Missense |
4/10 |
- |
2 |
7-44190568-T-G |
c.470A>C |
p.E157A |
Missense |
4/10 |
- |
1 |
7-44190569-C-A |
c.469G>T |
p.E157* |
Nonsense |
4/10 |
- |
2 |
7-44190569-C-G |
c.469G>C |
p.E157Q |
Missense |
4/10 |
- |
1 |
7-44190569-C-T |
c.469G>A |
p.E157K |
Missense |
4/10 |
- |
11 |
7-44190570-G-C |
c.468C>G |
p.H156Q |
Missense |
4/10 |
- |
1 |
7-44190570-G-T |
c.468C>A |
p.H156Q |
Missense |
4/10 |
- |
1 |
7-44190570-GTG-CAT |
c.466_468delinsATG |
p.H156M |
Missense |
4/10 |
- |
1 |
7-44190570-GTG-CCA |
c.466_468delinsTGG |
p.H156W |
Missense |
4/10 |
- |
1 |
7-44190570-GTG-CTC |
c.466_468delinsGAG |
p.H156E |
Missense |
4/10 |
- |
1 |
7-44190570-GTG-CTT |
c.466_468delinsAAG |
p.H156K |
Missense |
4/10 |
- |
1 |
7-44190571-T-A |
c.467A>T |
p.H156L |
Missense |
4/10 |
- |
1 |
7-44190571-T-C |
c.467A>G |
p.H156R |
Missense |
4/10 |
- |
1 |
7-44190571-T-G |
c.467A>C |
p.H156P |
Missense |
4/10 |
- |
1 |
7-44190571-TG-AA |
c.466_467delinsTT |
p.H156F |
Missense |
4/10 |
- |
1 |
7-44190571-TG-AC |
c.466_467delinsGT |
p.H156V |
Missense |
4/10 |
- |
1 |
7-44190571-TG-AT |
c.466_467delinsAT |
p.H156I |
Missense |
4/10 |
- |
1 |
7-44190571-TG-CA |
c.466_467inv |
p.H156C |
Missense |
4/10 |
- |
1 |
7-44190571-TG-CC |
c.466_467delinsGG |
p.H156G |
Missense |
4/10 |
- |
1 |
7-44190571-TG-CT |
c.466_467delinsAG |
p.H156S |
Missense |
4/10 |
- |
1 |
7-44190571-TG-GC |
c.466_467delinsGC |
p.H156A |
Missense |
4/10 |
- |
1 |
7-44190571-TG-GT |
c.466_467delinsAC |
p.H156T |
Missense |
4/10 |
- |
1 |
7-44190572-G-A |
c.466C>T |
p.H156Y |
Missense |
4/10 |
- |
2 |
7-44190572-G-C |
c.466C>G |
p.H156D |
Missense |
4/10 |
- |
3 |
7-44190572-G-T |
c.466C>A |
p.H156N |
Missense |
4/10 |
- |
1 |
7-44190573-C-A |
c.465G>T |
p.R155S |
Missense |
4/10 |
- |
2 |
7-44190573-CC-GA |
c.464_465delinsTC |
p.R155I |
Missense |
4/10 |
- |
1 |
7-44190573-CC-GT |
c.464_465delinsAC |
p.R155N |
Missense |
4/10 |
- |
1 |
7-44190573-CCT-AAA |
c.463_465delinsTTT |
p.R155F |
Missense |
4/10 |
- |
1 |
7-44190573-CCT-ACA |
c.463_465delinsTGT |
p.R155C |
Missense |
4/10 |
- |
1 |
7-44190573-CCT-ATA |
c.463_465delinsTAT |
p.R155Y |
Missense |
4/10 |
- |
1 |
7-44190573-CCT-ATG |
c.463_465delinsCAT |
p.R155H |
Missense |
4/10 |
- |
2 |
7-44190573-CCT-GTC |
c.463_465delinsGAC |
p.R155D |
Missense |
4/10 |
- |
1 |
7-44190573-C-G |
c.465G>C |
p.R155S |
Missense |
4/10 |
- |
1 |
7-44190573-C-T |
c.465G>A |
p.R155= |
Synonymous |
4/10 |
- |
3 |
7-44190575-T-G |
c.463A>C |
p.R155= |
Synonymous |
4/10 |
- |
1 |
7-44190574-C-A |
c.464G>T |
p.R155M |
Missense |
4/10 |
- |
1 |
7-44190574-C-G |
c.464G>C |
p.R155T |
Missense |
4/10 |
- |
1 |
7-44190574-C-T |
c.464G>A |
p.R155K |
Missense |
4/10 |
- |
1 |
7-44190574-CT-AC |
c.463_464delinsGT |
p.R155V |
Missense |
4/10 |
- |
1 |
7-44190574-CT-AG |
c.463_464inv |
p.R155L |
Missense |
4/10 |
- |
1 |
7-44190574-CT-GC |
c.463_464delinsGC |
p.R155A |
Missense |
4/10 |
- |
1 |
7-44190574-CT-GG |
c.463_464delinsCC |
p.R155P |
Missense |
4/10 |
- |
1 |
7-44190574-CT-TC |
c.463_464delinsGA |
p.R155E |
Missense |
4/10 |
- |
1 |
7-44190574-CT-TG |
c.463_464delinsCA |
p.R155Q |
Missense |
4/10 |
- |
2 |
7-44190575-T-A |
c.463A>T |
p.R155W |
Missense |
4/10 |
- |
1 |
7-44190575-T-C |
c.463A>G |
p.R155G |
Missense |
4/10 |
- |
4 |
7-44190576-CAC-AAA |
c.460_462delinsTTT |
p.V154F |
Missense |
4/10 |
- |
1 |
7-44190576-CAC-ACA |
c.460_462delinsTGT |
p.V154C |
Missense |
4/10 |
- |
1 |
7-44190576-CAC-ATA |
c.460_462delinsTAT |
p.V154Y |
Missense |
4/10 |
- |
1 |
7-44190576-CAC-ATG |
c.460_462delinsCAT |
p.V154H |
Missense |
4/10 |
- |
1 |
7-44190576-CAC-GAT |
c.460_462delinsATC |
p.V154I |
Missense |
4/10 |
- |
1 |
7-44190576-CAC-GTT |
c.460_462delinsAAC |
p.V154N |
Missense |
4/10 |
- |
1 |
7-44190576-CA-GT |
c.461_462delinsAC |
p.V154D |
Missense |
4/10 |
- |
1 |
7-44190577-A-C |
c.461T>G |
p.V154G |
Missense |
4/10 |
- |
1 |
7-44190577-AC-CA |
c.460_461delinsTG |
p.V154W |
Missense |
4/10 |
- |
1 |
7-44190577-AC-CT |
c.460_461delinsAG |
p.V154R |
Missense |
4/10 |
- |
1 |
7-44190577-AC-GA |
c.460_461delinsTC |
p.V154S |
Missense |
4/10 |
- |
1 |
7-44190577-AC-GG |
c.460_461delinsCC |
p.V154P |
Missense |
4/10 |
- |
1 |
7-44190577-AC-GT |
c.460_461inv |
p.V154T |
Missense |
4/10 |
- |
1 |
7-44190577-AC-TG |
c.460_461delinsCA |
p.V154Q |
Missense |
4/10 |
- |
1 |
7-44190577-AC-TT |
c.460_461delinsAA |
p.V154K |
Missense |
4/10 |
- |
1 |
7-44190577-A-G |
c.461T>C |
p.V154A |
Missense |
4/10 |
- |
3 |
7-44190577-A-T |
c.461T>A |
p.V154E |
Missense |
4/10 |
- |
1 |
7-44190575-TCA-T |
c.461_462del |
p.V154Efs*7 |
Frameshift |
4/10 |
- |
1 |
7-44190578-C-A |
c.460G>T |
p.V154L |
Missense |
4/10 |
- |
4 |
7-44190578-C-G |
c.460G>C |
p.V154L |
Missense |
4/10 |
- |
6 |
7-44190578-C-T |
c.460G>A |
p.V154M |
Missense |
4/10 |
- |
2 |
7-44190579-AGG-CAT |
c.457_459delinsATG |
p.P153M |
Missense |
4/10 |
- |
1 |
7-44190579-AGG-CCA |
c.457_459delinsTGG |
p.P153W |
Missense |
4/10 |
- |
1 |
7-44190579-AGG-CTC |
c.457_459delinsGAG |
p.P153E |
Missense |
4/10 |
- |
1 |
7-44190579-AGG-CTT |
c.457_459delinsAAG |
p.P153K |
Missense |
4/10 |
- |
1 |
7-44190579-AG-TT |
c.458_459delinsAA |
p.P153Q |
Missense |
4/10 |
- |
1 |
7-44190580-G-A |
c.458C>T |
p.P153L |
Missense |
4/10 |
- |
1 |
7-44190580-G-C |
c.458C>G |
p.P153R |
Missense |
4/10 |
- |
1 |
7-44190580-GG-AA |
c.457_458delinsTT |
p.P153F |
Missense |
4/10 |
- |
1 |
7-44190580-GG-AC |
c.457_458delinsGT |
p.P153V |
Missense |
4/10 |
- |
1 |
7-44190580-GG-AT |
c.457_458delinsAT |
p.P153I |
Missense |
4/10 |
- |
1 |
7-44190580-GG-CA |
c.457_458delinsTG |
p.P153C |
Missense |
4/10 |
- |
1 |
7-44190580-GG-CC |
c.457_458inv |
p.P153G |
Missense |
4/10 |
- |
1 |
7-44190580-GG-TA |
c.457_458delinsTA |
p.P153Y |
Missense |
4/10 |
- |
1 |
7-44190580-GG-TC |
c.457_458delinsGA |
p.P153D |
Missense |
4/10 |
- |
1 |
7-44190580-GG-TT |
c.457_458delinsAA |
p.P153N |
Missense |
4/10 |
- |
1 |
7-44190580-G-T |
c.458C>A |
p.P153H |
Missense |
4/10 |
- |
4 |
7-44190581-G-A |
c.457C>T |
p.P153S |
Missense |
4/10 |
- |
3 |
7-44190581-G-C |
c.457C>G |
p.P153A |
Missense |
4/10 |
- |
1 |
7-44190581-G-T |
c.457C>A |
p.P153T |
Missense |
4/10 |
- |
1 |
7-44190582-AAA-CAT |
c.454_456delinsATG |
p.F152M |
Missense |
4/10 |
- |
1 |
7-44190582-AAA-CTC |
c.454_456delinsGAG |
p.F152E |
Missense |
4/10 |
- |
1 |
7-44190582-AAA-CTT |
c.454_456delinsAAG |
p.F152K |
Missense |
4/10 |
- |
1 |
7-44190582-AAA-TTG |
c.454_456delinsCAA |
p.F152Q |
Missense |
4/10 |
- |
1 |
7-44190582-AA-CC |
c.455_456delinsGG |
p.F152W |
Missense |
4/10 |
- |
1 |
7-44190583-AA-CC |
c.454_455delinsGG |
p.F152G |
Missense |
4/10 |
- |
1 |
7-44190583-AA-CG |
c.454_455delinsCG |
p.F152R |
Missense |
4/10 |
- |
1 |
7-44190583-AA-GC |
c.454_455delinsGC |
p.F152A |
Missense |
4/10 |
- |
1 |
7-44190583-AA-GG |
c.454_455delinsCC |
p.F152P |
Missense |
4/10 |
- |
1 |
7-44190583-AA-GT |
c.454_455delinsAC |
p.F152T |
Missense |
4/10 |
- |
1 |
7-44190583-AA-TC |
c.454_455delinsGA |
p.F152D |
Missense |
4/10 |
- |
1 |
7-44190583-AA-TG |
c.454_455delinsCA |
p.F152H |
Missense |
4/10 |
- |
1 |
7-44190583-AA-TT |
c.454_455inv |
p.F152N |
Missense |
4/10 |
- |
1 |
7-44190583-A-C |
c.455T>G |
p.F152C |
Missense |
4/10 |
- |
1 |
7-44190583-A-G |
c.455T>C |
p.F152S |
Missense |
4/10 |
- |
1 |
7-44190583-A-T |
c.455T>A |
p.F152Y |
Missense |
4/10 |
- |
1 |
7-44190582-A-C |
c.456T>G |
p.F152L |
Missense |
4/10 |
- |
2 |
7-44190582-A-T |
c.456T>A |
p.F152L |
Missense |
4/10 |
- |
2 |
7-44190584-A-C |
c.454T>G |
p.F152V |
Missense |
4/10 |
- |
1 |
7-44190584-A-G |
c.454T>C |
p.F152L |
Missense |
4/10 |
- |
2 |
7-44190584-A-T |
c.454T>A |
p.F152I |
Missense |
4/10 |
- |
2 |
7-44190585-GGA-CAT |
c.451_453delinsATG |
p.S151M |
Missense |
4/10 |
- |
1 |
7-44190585-GGA-CTC |
c.451_453delinsGAG |
p.S151E |
Missense |
4/10 |
- |
1 |
7-44190585-GGA-CTT |
c.451_453delinsAAG |
p.S151K |
Missense |
4/10 |
- |
1 |
7-44190585-GGA-TTG |
c.451_453delinsCAA |
p.S151Q |
Missense |
4/10 |
- |
1 |
7-44190585-GG-CC |
c.452_453inv |
p.S151W |
Missense |
4/10 |
- |
2 |
7-44190583-AAGG-A |
c.452_454del |
p.S151del |
InFrameDeletion |
4/10 |
- |
4 |
7-44190586-G-A |
c.452C>T |
p.S151F |
Missense |
4/10 |
- |
3 |
7-44190586-GA-AC |
c.451_452delinsGT |
p.S151V |
Missense |
4/10 |
- |
1 |
7-44190586-GA-AG |
c.451_452delinsCT |
p.S151L |
Missense |
4/10 |
- |
1 |
7-44190586-GA-AT |
c.451_452delinsAT |
p.S151I |
Missense |
4/10 |
- |
1 |
7-44190586-GA-CC |
c.451_452delinsGG |
p.S151G |
Missense |
4/10 |
- |
1 |
7-44190586-GA-CG |
c.451_452delinsCG |
p.S151R |
Missense |
4/10 |
- |
1 |
7-44190586-GA-TC |
c.451_452inv |
p.S151D |
Missense |
4/10 |
- |
1 |
7-44190586-GA-TG |
c.451_452delinsCA |
p.S151H |
Missense |
4/10 |
- |
1 |
7-44190586-GA-TT |
c.451_452delinsAA |
p.S151N |
Missense |
4/10 |
- |
1 |
7-44190586-G-C |
c.452C>G |
p.S151C |
Missense |
4/10 |
- |
3 |
7-44190586-G-T |
c.452C>A |
p.S151Y |
Missense |
4/10 |
- |
1 |
7-44190587-A-C |
c.451T>G |
p.S151A |
Missense |
4/10 |
- |
1 |
7-44190587-A-G |
c.451T>C |
p.S151P |
Missense |
4/10 |
- |
4 |
7-44190587-A-T |
c.451T>A |
p.S151T |
Missense |
4/10 |
- |
3 |
7-44190588-GAA-CAT |
c.448_450delinsATG |
p.F150M |
Missense |
4/10 |
- |
1 |
7-44190588-GAA-CTC |
c.448_450delinsGAG |
p.F150E |
Missense |
4/10 |
- |
1 |
7-44190588-GAA-CTT |
c.448_450delinsAAG |
p.F150K |
Missense |
4/10 |
- |
1 |
7-44190588-GAA-TTG |
c.448_450delinsCAA |
p.F150Q |
Missense |
4/10 |
- |
1 |
7-44190588-GA-CC |
c.449_450delinsGG |
p.F150W |
Missense |
4/10 |
- |
1 |
7-44190586-GAGA-G |
c.449_451del |
p.F150del |
InFrameDeletion |
4/10 |
- |
2 |
7-44190589-AA-CC |
c.448_449delinsGG |
p.F150G |
Missense |
4/10 |
- |
1 |
7-44190589-AA-CG |
c.448_449delinsCG |
p.F150R |
Missense |
4/10 |
- |
1 |
7-44190589-AA-GC |
c.448_449delinsGC |
p.F150A |
Missense |
4/10 |
- |
1 |
7-44190589-AA-GG |
c.448_449delinsCC |
p.F150P |
Missense |
4/10 |
- |
1 |
7-44190589-AA-GT |
c.448_449delinsAC |
p.F150T |
Missense |
4/10 |
- |
1 |
7-44190589-AA-TC |
c.448_449delinsGA |
p.F150D |
Missense |
4/10 |
- |
1 |
7-44190589-AA-TG |
c.448_449delinsCA |
p.F150H |
Missense |
4/10 |
- |
1 |
7-44190589-AA-TT |
c.448_449inv |
p.F150N |
Missense |
4/10 |
- |
1 |
7-44190589-A-C |
c.449T>G |
p.F150C |
Missense |
4/10 |
- |
1 |
7-44190589-A-G |
c.449T>C |
p.F150S |
Missense |
4/10 |
- |
12 |
7-44190589-A-T |
c.449T>A |
p.F150Y |
Missense |
4/10 |
- |
6 |
7-44190588-G-C |
c.450C>G |
p.F150L |
Missense |
4/10 |
- |
2 |
7-44190588-G-T |
c.450C>A |
p.F150L |
Missense |
4/10 |
- |
2 |
7-44190590-A-C |
c.448T>G |
p.F150V |
Missense |
4/10 |
- |
1 |
7-44190590-A-G |
c.448T>C |
p.F150L |
Missense |
4/10 |
- |
2 |
7-44190590-A-T |
c.448T>A |
p.F150I |
Missense |
4/10 |
- |
1 |
7-44190591-GG-CA |
c.446_447delinsTG |
p.T149M |
Missense |
4/10 |
- |
1 |
7-44190591-GG-CC |
c.446_447inv |
p.T149R |
Missense |
4/10 |
- |
1 |
7-44190591-GG-CT |
c.446_447delinsAG |
p.T149K |
Missense |
4/10 |
- |
1 |
7-44190591-GGT-CCA |
c.445_447delinsTGG |
p.T149W |
Missense |
4/10 |
- |
1 |
7-44190591-GGT-CTC |
c.445_447delinsGAG |
p.T149E |
Missense |
4/10 |
- |
1 |
7-44190591-GGT-TTG |
c.445_447delinsCAA |
p.T149Q |
Missense |
4/10 |
- |
1 |
7-44190592-G-A |
c.446C>T |
p.T149I |
Missense |
4/10 |
- |
2 |
7-44190592-G-C |
c.446C>G |
p.T149S |
Missense |
4/10 |
- |
1 |
7-44190592-G-T |
c.446C>A |
p.T149N |
Missense |
4/10 |
- |
1 |
7-44190592-GT-AA |
c.445_446delinsTT |
p.T149F |
Missense |
4/10 |
- |
1 |
7-44190592-GT-AC |
c.445_446inv |
p.T149V |
Missense |
4/10 |
- |
1 |
7-44190592-GT-AG |
c.445_446delinsCT |
p.T149L |
Missense |
4/10 |
- |
1 |
7-44190592-GT-CA |
c.445_446delinsTG |
p.T149C |
Missense |
4/10 |
- |
1 |
7-44190592-GT-CC |
c.445_446delinsGG |
p.T149G |
Missense |
4/10 |
- |
1 |
7-44190592-GT-TA |
c.445_446delinsTA |
p.T149Y |
Missense |
4/10 |
- |
1 |
7-44190592-GT-TC |
c.445_446delinsGA |
p.T149D |
Missense |
4/10 |
- |
1 |
7-44190592-GT-TG |
c.445_446delinsCA |
p.T149H |
Missense |
4/10 |
- |
1 |
7-44190593-T-A |
c.445A>T |
p.T149S |
Missense |
4/10 |
- |
1 |
7-44190593-T-C |
c.445A>G |
p.T149A |
Missense |
4/10 |
- |
1 |
7-44190593-T-G |
c.445A>C |
p.T149P |
Missense |
4/10 |
- |
2 |
7-44190594-G-A |
c.444C>T |
p.F148= |
Synonymous |
4/10 |
- |
2 |
7-44190594-GAA-CAT |
c.442_444delinsATG |
p.F148M |
Missense |
4/10 |
- |
1 |
7-44190594-GAA-CTC |
c.442_444delinsGAG |
p.F148E |
Missense |
4/10 |
- |
1 |
7-44190594-GAA-CTT |
c.442_444delinsAAG |
p.F148K |
Missense |
4/10 |
- |
1 |
7-44190594-GAA-TTG |
c.442_444delinsCAA |
p.F148Q |
Missense |
4/10 |
- |
1 |
7-44190594-GA-CC |
c.443_444delinsGG |
p.F148W |
Missense |
4/10 |
- |
1 |
7-44190595-AA-CC |
c.442_443delinsGG |
p.F148G |
Missense |
4/10 |
- |
1 |
7-44190595-AA-CG |
c.442_443delinsCG |
p.F148R |
Missense |
4/10 |
- |
1 |
7-44190595-AA-GC |
c.442_443delinsGC |
p.F148A |
Missense |
4/10 |
- |
1 |
7-44190595-AA-GG |
c.442_443delinsCC |
p.F148P |
Missense |
4/10 |
- |
1 |
7-44190595-AA-GT |
c.442_443delinsAC |
p.F148T |
Missense |
4/10 |
- |
1 |
7-44190595-AA-TC |
c.442_443delinsGA |
p.F148D |
Missense |
4/10 |
- |
1 |
7-44190595-AA-TG |
c.442_443delinsCA |
p.F148H |
Missense |
4/10 |
- |
1 |
7-44190595-AA-TT |
c.442_443inv |
p.F148N |
Missense |
4/10 |
- |
1 |
7-44190595-A-C |
c.443T>G |
p.F148C |
Missense |
4/10 |
- |
1 |
7-44190595-A-G |
c.443T>C |
p.F148S |
Missense |
4/10 |
- |
2 |
7-44190595-A-T |
c.443T>A |
p.F148Y |
Missense |
4/10 |
- |
1 |
7-44190594-G-C |
c.444C>G |
p.F148L |
Missense |
4/10 |
- |
1 |
7-44190594-G-T |
c.444C>A |
p.F148L |
Missense |
4/10 |
- |
1 |
7-44190596-A-C |
c.442T>G |
p.F148V |
Missense |
4/10 |
- |
1 |
7-44190596-A-G |
c.442T>C |
p.F148L |
Missense |
4/10 |
- |
1 |
7-44190596-A-T |
c.442T>A |
p.F148I |
Missense |
4/10 |
- |
3 |
7-44190597-GCC-CAT |
c.439_441delinsATG |
p.G147M |
Missense |
4/10 |
- |
1 |
7-44190597-GCC-CCA |
c.439_441delinsTGG |
p.G147W |
Missense |
4/10 |
- |
1 |
7-44190597-GCC-CTT |
c.439_441delinsAAG |
p.G147K |
Missense |
4/10 |
- |
1 |
7-44190597-GC-CT |
c.440_441delinsAG |
p.G147E |
Missense |
4/10 |
- |
1 |
7-44190597-GCC-TTG |
c.439_441delinsCAA |
p.G147Q |
Missense |
4/10 |
- |
1 |
7-44190598-C-A |
c.440G>T |
p.G147V |
Missense |
4/10 |
- |
1 |
7-44190598-CC-AA |
c.439_440delinsTT |
p.G147F |
Missense |
4/10 |
- |
1 |
7-44190598-CC-AG |
c.439_440delinsCT |
p.G147L |
Missense |
4/10 |
- |
1 |
7-44190598-CC-AT |
c.439_440delinsAT |
p.G147I |
Missense |
4/10 |
- |
1 |
7-44190598-CC-GG |
c.439_440inv |
p.G147P |
Missense |
4/10 |
- |
1 |
7-44190598-CC-GT |
c.439_440delinsAC |
p.G147T |
Missense |
4/10 |
- |
1 |
7-44190598-CC-TA |
c.439_440delinsTA |
p.G147Y |
Missense |
4/10 |
- |
1 |
7-44190598-CC-TG |
c.439_440delinsCA |
p.G147H |
Missense |
4/10 |
- |
1 |
7-44190598-CC-TT |
c.439_440delinsAA |
p.G147N |
Missense |
4/10 |
- |
1 |
7-44190598-C-G |
c.440G>C |
p.G147A |
Missense |
4/10 |
- |
1 |
7-44190598-C-T |
c.440G>A |
p.G147D |
Missense |
4/10 |
- |
6 |
7-44190599-C-A |
c.439G>T |
p.G147C |
Missense |
4/10 |
- |
3 |
7-44190599-C-G |
c.439G>C |
p.G147R |
Missense |
4/10 |
- |
1 |
7-44190599-C-T |
c.439G>A |
p.G147S |
Missense |
4/10 |
- |
1 |
7-44190600-CA-AT |
c.437_438delinsAT |
p.L146H |
Missense |
4/10 |
- |
1 |
7-44190600-CAG-AAA |
c.436_438delinsTTT |
p.L146F |
Missense |
4/10 |
- |
1 |
7-44190600-CAG-ACA |
c.436_438delinsTGT |
p.L146C |
Missense |
4/10 |
- |
1 |
7-44190600-CAG-ATA |
c.436_438delinsTAT |
p.L146Y |
Missense |
4/10 |
- |
1 |
7-44190600-CAG-GAT |
c.436_438delinsATC |
p.L146I |
Missense |
4/10 |
- |
2 |
7-44190600-CAG-GTC |
c.436_438delinsGAC |
p.L146D |
Missense |
4/10 |
- |
1 |
7-44190600-CAG-GTT |
c.436_438delinsAAC |
p.L146N |
Missense |
4/10 |
- |
1 |
7-44190601-A-C |
c.437T>G |
p.L146R |
Missense |
4/10 |
- |
7 |
7-44190601-A-G |
c.437T>C |
p.L146P |
Missense |
4/10 |
- |
7 |
7-44190601-AG-CA |
c.436_437delinsTG |
p.L146W |
Missense |
4/10 |
- |
1 |
7-44190601-AG-CC |
c.436_437delinsGG |
p.L146G |
Missense |
4/10 |
- |
1 |
7-44190601-AG-GA |
c.436_437delinsTC |
p.L146S |
Missense |
4/10 |
- |
1 |
7-44190601-AG-GC |
c.436_437delinsGC |
p.L146A |
Missense |
4/10 |
- |
1 |
7-44190601-AG-GT |
c.436_437delinsAC |
p.L146T |
Missense |
4/10 |
- |
1 |
7-44190601-AG-TC |
c.436_437delinsGA |
p.L146E |
Missense |
4/10 |
- |
1 |
7-44190601-AG-TT |
c.436_437delinsAA |
p.L146K |
Missense |
4/10 |
- |
1 |
7-44190601-A-T |
c.437T>A |
p.L146Q |
Missense |
4/10 |
- |
1 |
7-44190601-CA-C |
c.437del |
p.L146Rfs*9 |
Frameshift |
4/10 |
- |
1 |
7-44190602-G-C |
c.436C>G |
p.L146V |
Missense |
4/10 |
- |
2 |
7-44190602-G-T |
c.436C>A |
p.L146M |
Missense |
4/10 |
- |
1 |
7-44190603-GGG-CAT |
c.433_435delinsATG |
p.P145M |
Missense |
4/10 |
- |
1 |
7-44190603-GGG-CCA |
c.433_435delinsTGG |
p.P145W |
Missense |
4/10 |
- |
1 |
7-44190603-GGG-CTC |
c.433_435delinsGAG |
p.P145E |
Missense |
4/10 |
- |
1 |
7-44190603-GGG-CTT |
c.433_435delinsAAG |
p.P145K |
Missense |
4/10 |
- |
1 |
7-44190603-GG-TT |
c.434_435delinsAA |
p.P145Q |
Missense |
4/10 |
- |
1 |
7-44190604-G-A |
c.434C>T |
p.P145L |
Missense |
4/10 |
- |
3 |
7-44190604-G-C |
c.434C>G |
p.P145R |
Missense |
4/10 |
- |
1 |
7-44190604-GG-AA |
c.433_434delinsTT |
p.P145F |
Missense |
4/10 |
- |
1 |
7-44190604-GG-AC |
c.433_434delinsGT |
p.P145V |
Missense |
4/10 |
- |
1 |
7-44190604-GG-AT |
c.433_434delinsAT |
p.P145I |
Missense |
4/10 |
- |
1 |
7-44190604-GG-CA |
c.433_434delinsTG |
p.P145C |
Missense |
4/10 |
- |
1 |
7-44190604-GG-CC |
c.433_434inv |
p.P145G |
Missense |
4/10 |
- |
1 |
7-44190604-GG-TA |
c.433_434delinsTA |
p.P145Y |
Missense |
4/10 |
- |
1 |
7-44190604-GG-TC |
c.433_434delinsGA |
p.P145D |
Missense |
4/10 |
- |
1 |
7-44190604-GG-TT |
c.433_434delinsAA |
p.P145N |
Missense |
4/10 |
- |
1 |
7-44190604-G-T |
c.434C>A |
p.P145H |
Missense |
4/10 |
- |
1 |
7-44190605-G-A |
c.433C>T |
p.P145S |
Missense |
4/10 |
- |
4 |
7-44190605-G-C |
c.433C>G |
p.P145A |
Missense |
4/10 |
- |
1 |
7-44190605-G-T |
c.433C>A |
p.P145T |
Missense |
4/10 |
- |
1 |
7-44190606-C-A |
c.432G>T |
p.L144= |
Synonymous |
4/10 |
- |
1 |
7-44190606-CA-AT |
c.431_432delinsAT |
p.L144H |
Missense |
4/10 |
- |
1 |
7-44190606-CAG-AAA |
c.430_432delinsTTT |
p.L144F |
Missense |
4/10 |
- |
1 |
7-44190606-CAG-ACA |
c.430_432delinsTGT |
p.L144C |
Missense |
4/10 |
- |
1 |
7-44190606-CAG-ATA |
c.430_432delinsTAT |
p.L144Y |
Missense |
4/10 |
- |
1 |
7-44190606-CAG-GAT |
c.430_432delinsATC |
p.L144I |
Missense |
4/10 |
- |
1 |
7-44190606-CAG-GTC |
c.430_432delinsGAC |
p.L144D |
Missense |
4/10 |
- |
1 |
7-44190606-CAG-GTT |
c.430_432delinsAAC |
p.L144N |
Missense |
4/10 |
- |
1 |
7-44190606-C-G |
c.432G>C |
p.L144= |
Synonymous |
4/10 |
- |
1 |
7-44190606-C-T |
c.432G>A |
p.L144= |
Synonymous |
4/10 |
- |
1 |
7-44190608-G-A |
c.430C>T |
p.L144= |
Synonymous |
4/10 |
- |
1 |
7-44190604-GGCA-G |
c.431_433del |
p.L144del |
InFrameDeletion |
4/10 |
- |
1 |
7-44190607-A-C |
c.431T>G |
p.L144R |
Missense |
4/10 |
- |
1 |
7-44190607-A-G |
c.431T>C |
p.L144P |
Missense |
4/10 |
- |
4 |
7-44190607-AG-CA |
c.430_431delinsTG |
p.L144W |
Missense |
4/10 |
- |
1 |
7-44190607-AG-CC |
c.430_431delinsGG |
p.L144G |
Missense |
4/10 |
- |
1 |
7-44190607-AG-GA |
c.430_431delinsTC |
p.L144S |
Missense |
4/10 |
- |
1 |
7-44190607-AG-GC |
c.430_431delinsGC |
p.L144A |
Missense |
4/10 |
- |
1 |
7-44190607-AG-GT |
c.430_431delinsAC |
p.L144T |
Missense |
4/10 |
- |
1 |
7-44190607-AG-TC |
c.430_431delinsGA |
p.L144E |
Missense |
4/10 |
- |
1 |
7-44190607-AG-TT |
c.430_431delinsAA |
p.L144K |
Missense |
4/10 |
- |
1 |
7-44190607-A-T |
c.431T>A |
p.L144Q |
Missense |
4/10 |
- |
1 |
7-44190608-G-C |
c.430C>G |
p.L144V |
Missense |
4/10 |
- |
1 |
7-44190608-G-T |
c.430C>A |
p.L144M |
Missense |
4/10 |
- |
1 |
7-44190609-C-A |
c.429G>T |
p.K143N |
Missense |
4/10 |
- |
2 |
7-44190609-C-G |
c.429G>C |
p.K143N |
Missense |
4/10 |
- |
1 |
7-44190609-CT-GA |
c.428_429delinsTC |
p.K143I |
Missense |
4/10 |
- |
1 |
7-44190609-CT-GC |
c.428_429delinsGC |
p.K143S |
Missense |
4/10 |
- |
1 |
7-44190609-CTT-AAA |
c.427_429delinsTTT |
p.K143F |
Missense |
4/10 |
- |
1 |
7-44190609-CTT-ACA |
c.427_429delinsTGT |
p.K143C |
Missense |
4/10 |
- |
1 |
7-44190609-CTT-ATA |
c.427_429delinsTAT |
p.K143Y |
Missense |
4/10 |
- |
1 |
7-44190609-CTT-ATG |
c.427_429delinsCAT |
p.K143H |
Missense |
4/10 |
- |
1 |
7-44190609-CTT-GTC |
c.427_429delinsGAC |
p.K143D |
Missense |
4/10 |
- |
1 |
7-44190610-T-A |
c.428A>T |
p.K143M |
Missense |
4/10 |
- |
1 |
7-44190610-T-C |
c.428A>G |
p.K143R |
Missense |
4/10 |
- |
1 |
7-44190610-T-G |
c.428A>C |
p.K143T |
Missense |
4/10 |
- |
1 |
7-44190610-TT-AC |
c.427_428delinsGT |
p.K143V |
Missense |
4/10 |
- |
1 |
7-44190610-TT-AG |
c.427_428delinsCT |
p.K143L |
Missense |
4/10 |
- |
1 |
7-44190610-TT-CA |
c.427_428delinsTG |
p.K143W |
Missense |
4/10 |
- |
1 |
7-44190610-TT-CC |
c.427_428delinsGG |
p.K143G |
Missense |
4/10 |
- |
1 |
7-44190610-TT-GC |
c.427_428delinsGC |
p.K143A |
Missense |
4/10 |
- |
1 |
7-44190610-TT-GG |
c.427_428delinsCC |
p.K143P |
Missense |
4/10 |
- |
1 |
7-44190611-T-A |
c.427A>T |
p.K143* |
Nonsense |
4/10 |
- |
1 |
7-44190611-T-C |
c.427A>G |
p.K143E |
Missense |
4/10 |
- |
1 |
7-44190611-T-G |
c.427A>C |
p.K143Q |
Missense |
4/10 |
- |
1 |
7-44190608-GCTT-G |
c.427_429del |
p.K143del |
InFrameDeletion |
4/10 |
- |
1 |
7-44190612-C-A |
c.426G>T |
p.K142N |
Missense |
4/10 |
- |
1 |
7-44190612-C-G |
c.426G>C |
p.K142N |
Missense |
4/10 |
- |
1 |
7-44190612-CT-GA |
c.425_426delinsTC |
p.K142I |
Missense |
4/10 |
- |
1 |
7-44190612-CT-GC |
c.425_426delinsGC |
p.K142S |
Missense |
4/10 |
- |
1 |
7-44190612-CTT-AAA |
c.424_426delinsTTT |
p.K142F |
Missense |
4/10 |
- |
1 |
7-44190612-CTT-ACA |
c.424_426delinsTGT |
p.K142C |
Missense |
4/10 |
- |
1 |
7-44190612-CTT-ATA |
c.424_426delinsTAT |
p.K142Y |
Missense |
4/10 |
- |
1 |
7-44190612-CTT-ATG |
c.424_426delinsCAT |
p.K142H |
Missense |
4/10 |
- |
1 |
7-44190612-CTT-GTC |
c.424_426delinsGAC |
p.K142D |
Missense |
4/10 |
- |
1 |
7-44190613-T-A |
c.425A>T |
p.K142M |
Missense |
4/10 |
- |
1 |
7-44190613-T-C |
c.425A>G |
p.K142R |
Missense |
4/10 |
- |
1 |
7-44190613-T-G |
c.425A>C |
p.K142T |
Missense |
4/10 |
- |
2 |
7-44190613-TT-AC |
c.424_425delinsGT |
p.K142V |
Missense |
4/10 |
- |
1 |
7-44190613-TT-AG |
c.424_425delinsCT |
p.K142L |
Missense |
4/10 |
- |
1 |
7-44190613-TT-CA |
c.424_425delinsTG |
p.K142W |
Missense |
4/10 |
- |
1 |
7-44190613-TT-CC |
c.424_425delinsGG |
p.K142G |
Missense |
4/10 |
- |
1 |
7-44190613-TT-GC |
c.424_425delinsGC |
p.K142A |
Missense |
4/10 |
- |
1 |
7-44190613-TT-GG |
c.424_425delinsCC |
p.K142P |
Missense |
4/10 |
- |
1 |
7-44190614-T-A |
c.424A>T |
p.K142* |
Nonsense |
4/10 |
- |
1 |
7-44190614-T-C |
c.424A>G |
p.K142E |
Missense |
4/10 |
- |
2 |
7-44190614-T-G |
c.424A>C |
p.K142Q |
Missense |
4/10 |
- |
1 |
7-44190615-G-C |
c.423C>G |
p.H141Q |
Missense |
4/10 |
- |
1 |
7-44190615-G-T |
c.423C>A |
p.H141Q |
Missense |
4/10 |
- |
1 |
7-44190615-GTG-CAT |
c.421_423delinsATG |
p.H141M |
Missense |
4/10 |
- |
1 |
7-44190615-GTG-CCA |
c.421_423delinsTGG |
p.H141W |
Missense |
4/10 |
- |
1 |
7-44190615-GTG-CTC |
c.421_423delinsGAG |
p.H141E |
Missense |
4/10 |
- |
1 |
7-44190615-GTG-CTT |
c.421_423delinsAAG |
p.H141K |
Missense |
4/10 |
- |
1 |
7-44190615-TG-T |
c.423del |
p.H141Qfs*14 |
Frameshift |
4/10 |
- |
1 |
7-44190616-T-A |
c.422A>T |
p.H141L |
Missense |
4/10 |
- |
1 |
7-44190616-T-C |
c.422A>G |
p.H141R |
Missense |
4/10 |
- |
1 |
7-44190616-T-G |
c.422A>C |
p.H141P |
Missense |
4/10 |
- |
2 |
7-44190616-TG-AA |
c.421_422delinsTT |
p.H141F |
Missense |
4/10 |
- |
1 |
7-44190616-TG-AC |
c.421_422delinsGT |
p.H141V |
Missense |
4/10 |
- |
1 |
7-44190616-TG-AT |
c.421_422delinsAT |
p.H141I |
Missense |
4/10 |
- |
1 |
7-44190616-TG-CA |
c.421_422inv |
p.H141C |
Missense |
4/10 |
- |
1 |
7-44190616-TG-CC |
c.421_422delinsGG |
p.H141G |
Missense |
4/10 |
- |
1 |
7-44190616-TG-CT |
c.421_422delinsAG |
p.H141S |
Missense |
4/10 |
- |
1 |
7-44190616-TG-GC |
c.421_422delinsGC |
p.H141A |
Missense |
4/10 |
- |
1 |
7-44190616-TG-GT |
c.421_422delinsAC |
p.H141T |
Missense |
4/10 |
- |
1 |
7-44190617-G-A |
c.421C>T |
p.H141Y |
Missense |
4/10 |
- |
2 |
7-44190617-G-C |
c.421C>G |
p.H141D |
Missense |
4/10 |
- |
1 |
7-44190617-G-T |
c.421C>A |
p.H141N |
Missense |
4/10 |
- |
1 |
7-44190618-T-A |
c.420A>T |
p.K140N |
Missense |
4/10 |
- |
1 |
7-44190618-T-G |
c.420A>C |
p.K140N |
Missense |
4/10 |
- |
1 |
7-44190618-TT-CA |
c.419_420delinsTG |
p.K140M |
Missense |
4/10 |
- |
2 |
7-44190618-TT-GC |
c.419_420delinsGC |
p.K140S |
Missense |
4/10 |
- |
1 |
7-44190618-TTT-AAA |
c.418_420inv |
p.K140F |
Missense |
4/10 |
- |
1 |
7-44190618-TTT-ACA |
c.418_420delinsTGT |
p.K140C |
Missense |
4/10 |
- |
1 |
7-44190618-TTT-ATA |
c.418_420delinsTAT |
p.K140Y |
Missense |
4/10 |
- |
1 |
7-44190618-TTT-ATG |
c.418_420delinsCAT |
p.K140H |
Missense |
4/10 |
- |
1 |
7-44190618-TTT-CCA |
c.418_420delinsTGG |
p.K140W |
Missense |
4/10 |
- |
1 |
7-44190618-TTT-GTC |
c.418_420delinsGAC |
p.K140D |
Missense |
4/10 |
- |
1 |
7-44190619-T-A |
c.419A>T |
p.K140I |
Missense |
4/10 |
- |
1 |
7-44190619-T-C |
c.419A>G |
p.K140R |
Missense |
4/10 |
- |
1 |
7-44190619-T-G |
c.419A>C |
p.K140T |
Missense |
4/10 |
- |
1 |
7-44190619-TT-AC |
c.418_419delinsGT |
p.K140V |
Missense |
4/10 |
- |
1 |
7-44190619-TT-AG |
c.418_419delinsCT |
p.K140L |
Missense |
4/10 |
- |
1 |
7-44190619-TT-CC |
c.418_419delinsGG |
p.K140G |
Missense |
4/10 |
- |
1 |
7-44190619-TT-GC |
c.418_419delinsGC |
p.K140A |
Missense |
4/10 |
- |
1 |
7-44190619-TT-GG |
c.418_419delinsCC |
p.K140P |
Missense |
4/10 |
- |
1 |
7-44190620-T-C |
c.418A>G |
p.K140E |
Missense |
4/10 |
- |
2 |
7-44190620-T-G |
c.418A>C |
p.K140Q |
Missense |
4/10 |
- |
1 |
7-44190621-C-A |
c.417G>T |
p.M139I |
Missense |
4/10 |
- |
2 |
7-44190621-CA-GC |
c.416_417delinsGC |
p.M139S |
Missense |
4/10 |
- |
1 |
7-44190621-CA-GT |
c.416_417delinsAC |
p.M139N |
Missense |
4/10 |
- |
1 |
7-44190621-CAT-AAA |
c.415_417delinsTTT |
p.M139F |
Missense |
4/10 |
- |
1 |
7-44190621-CAT-ACA |
c.415_417delinsTGT |
p.M139C |
Missense |
4/10 |
- |
1 |
7-44190621-CAT-ATA |
c.415_417delinsTAT |
p.M139Y |
Missense |
4/10 |
- |
1 |
7-44190621-CAT-ATG |
c.415_417inv |
p.M139H |
Missense |
4/10 |
- |
1 |
7-44190621-CAT-GTC |
c.415_417delinsGAC |
p.M139D |
Missense |
4/10 |
- |
1 |
7-44190621-C-G |
c.417G>C |
p.M139I |
Missense |
4/10 |
- |
1 |
7-44190621-C-T |
c.417G>A |
p.M139I |
Missense |
4/10 |
- |
1 |
7-44190622-A-C |
c.416T>G |
p.M139R |
Missense |
4/10 |
- |
1 |
7-44190622-A-G |
c.416T>C |
p.M139T |
Missense |
4/10 |
- |
1 |
7-44190622-A-T |
c.416T>A |
p.M139K |
Missense |
4/10 |
- |
1 |
7-44190622-AT-CA |
c.415_416delinsTG |
p.M139W |
Missense |
4/10 |
- |
1 |
7-44190622-AT-CC |
c.415_416delinsGG |
p.M139G |
Missense |
4/10 |
- |
1 |
7-44190622-AT-GC |
c.415_416delinsGC |
p.M139A |
Missense |
4/10 |
- |
1 |
7-44190622-AT-GG |
c.415_416delinsCC |
p.M139P |
Missense |
4/10 |
- |
1 |
7-44190622-AT-TC |
c.415_416delinsGA |
p.M139E |
Missense |
4/10 |
- |
1 |
7-44190622-AT-TG |
c.415_416delinsCA |
p.M139Q |
Missense |
4/10 |
- |
1 |
7-44190623-T-A |
c.415A>T |
p.M139L |
Missense |
4/10 |
- |
2 |
7-44190623-T-C |
c.415A>G |
p.M139V |
Missense |
4/10 |
- |
1 |
7-44190623-T-G |
c.415A>C |
p.M139L |
Missense |
4/10 |
- |
1 |
7-44190624-C-A |
c.414G>T |
p.Q138H |
Missense |
4/10 |
- |
1 |
7-44190624-C-G |
c.414G>C |
p.Q138H |
Missense |
4/10 |
- |
1 |
7-44190624-CTG-AAA |
c.412_414delinsTTT |
p.Q138F |
Missense |
4/10 |
- |
1 |
7-44190624-CTG-ACA |
c.412_414delinsTGT |
p.Q138C |
Missense |
4/10 |
- |
1 |
7-44190624-CTG-ATA |
c.412_414delinsTAT |
p.Q138Y |
Missense |
4/10 |
- |
1 |
7-44190624-CTG-GAT |
c.412_414delinsATC |
p.Q138I |
Missense |
4/10 |
- |
1 |
7-44190624-CTG-GTC |
c.412_414delinsGAC |
p.Q138D |
Missense |
4/10 |
- |
1 |
7-44190624-CTG-GTT |
c.412_414delinsAAC |
p.Q138N |
Missense |
4/10 |
- |
1 |
7-44190625-T-A |
c.413A>T |
p.Q138L |
Missense |
4/10 |
- |
2 |
7-44190625-T-C |
c.413A>G |
p.Q138R |
Missense |
4/10 |
- |
2 |
7-44190625-T-G |
c.413A>C |
p.Q138P |
Missense |
4/10 |
- |
2 |
7-44190625-TG-AC |
c.412_413delinsGT |
p.Q138V |
Missense |
4/10 |
- |
1 |
7-44190625-TG-AT |
c.412_413delinsAT |
p.Q138M |
Missense |
4/10 |
- |
1 |
7-44190625-TG-CA |
c.412_413inv |
p.Q138W |
Missense |
4/10 |
- |
1 |
7-44190625-TG-CC |
c.412_413delinsGG |
p.Q138G |
Missense |
4/10 |
- |
1 |
7-44190625-TG-GA |
c.412_413delinsTC |
p.Q138S |
Missense |
4/10 |
- |
1 |
7-44190625-TG-GC |
c.412_413delinsGC |
p.Q138A |
Missense |
4/10 |
- |
1 |
7-44190625-TG-GT |
c.412_413delinsAC |
p.Q138T |
Missense |
4/10 |
- |
1 |
7-44190626-G-A |
c.412C>T |
p.Q138* |
Nonsense |
4/10 |
- |
1 |
7-44190626-G-C |
c.412C>G |
p.Q138E |
Missense |
4/10 |
- |
1 |
7-44190626-G-T |
c.412C>A |
p.Q138K |
Missense |
4/10 |
- |
1 |
7-44190627-A-C |
c.411T>G |
p.H137Q |
Missense |
4/10 |
- |
1 |
7-44190627-A-T |
c.411T>A |
p.H137Q |
Missense |
4/10 |
- |
1 |
7-44190627-ATG-CAT |
c.409_411inv |
p.H137M |
Missense |
4/10 |
- |
1 |
7-44190627-ATG-CCA |
c.409_411delinsTGG |
p.H137W |
Missense |
4/10 |
- |
1 |
7-44190627-ATG-CTC |
c.409_411delinsGAG |
p.H137E |
Missense |
4/10 |
- |
1 |
7-44190627-ATG-CTT |
c.409_411delinsAAG |
p.H137K |
Missense |
4/10 |
- |
1 |
7-44190628-T-A |
c.410A>T |
p.H137L |
Missense |
4/10 |
- |
1 |
7-44190628-T-C |
c.410A>G |
p.H137R |
Missense |
4/10 |
- |
8 |
7-44190628-T-G |
c.410A>C |
p.H137P |
Missense |
4/10 |
- |
1 |
7-44190628-TG-AA |
c.409_410delinsTT |
p.H137F |
Missense |
4/10 |
- |
1 |
7-44190628-TG-AC |
c.409_410delinsGT |
p.H137V |
Missense |
4/10 |
- |
1 |
7-44190628-TG-AT |
c.409_410delinsAT |
p.H137I |
Missense |
4/10 |
- |
1 |
7-44190628-TG-CA |
c.409_410inv |
p.H137C |
Missense |
4/10 |
- |
1 |
7-44190628-TG-CC |
c.409_410delinsGG |
p.H137G |
Missense |
4/10 |
- |
1 |
7-44190628-TG-CT |
c.409_410delinsAG |
p.H137S |
Missense |
4/10 |
- |
1 |
7-44190628-TG-GC |
c.409_410delinsGC |
p.H137A |
Missense |
4/10 |
- |
1 |
7-44190628-TG-GT |
c.409_410delinsAC |
p.H137T |
Missense |
4/10 |
- |
1 |
7-44190629-G-A |
c.409C>T |
p.H137Y |
Missense |
4/10 |
- |
1 |
7-44190629-G-C |
c.409C>G |
p.H137D |
Missense |
4/10 |
- |
5 |
7-44190629-G-T |
c.409C>A |
p.H137N |
Missense |
4/10 |
- |
1 |
7-44190630-C-A |
c.408G>T |
p.K136N |
Missense |
4/10 |
- |
1 |
7-44190630-C-G |
c.408G>C |
p.K136N |
Missense |
4/10 |
- |
1 |
7-44190630-CT-GA |
c.407_408delinsTC |
p.K136I |
Missense |
4/10 |
- |
1 |
7-44190630-CT-GC |
c.407_408delinsGC |
p.K136S |
Missense |
4/10 |
- |
1 |
7-44190630-CTT-AAA |
c.406_408delinsTTT |
p.K136F |
Missense |
4/10 |
- |
1 |
7-44190630-CTT-ACA |
c.406_408delinsTGT |
p.K136C |
Missense |
4/10 |
- |
1 |
7-44190630-CTT-ATA |
c.406_408delinsTAT |
p.K136Y |
Missense |
4/10 |
- |
1 |
7-44190630-CTT-ATG |
c.406_408delinsCAT |
p.K136H |
Missense |
4/10 |
- |
1 |
7-44190630-CTT-GTC |
c.406_408delinsGAC |
p.K136D |
Missense |
4/10 |
- |
1 |
7-44190631-T-A |
c.407A>T |
p.K136M |
Missense |
4/10 |
- |
1 |
7-44190631-T-C |
c.407A>G |
p.K136R |
Missense |
4/10 |
- |
1 |
7-44190631-T-G |
c.407A>C |
p.K136T |
Missense |
4/10 |
- |
1 |
7-44190631-TT-AC |
c.406_407delinsGT |
p.K136V |
Missense |
4/10 |
- |
1 |
7-44190631-TT-AG |
c.406_407delinsCT |
p.K136L |
Missense |
4/10 |
- |
1 |
7-44190631-TT-CA |
c.406_407delinsTG |
p.K136W |
Missense |
4/10 |
- |
1 |
7-44190631-TT-CC |
c.406_407delinsGG |
p.K136G |
Missense |
4/10 |
- |
1 |
7-44190631-TT-GC |
c.406_407delinsGC |
p.K136A |
Missense |
4/10 |
- |
1 |
7-44190631-TT-GG |
c.406_407delinsCC |
p.K136P |
Missense |
4/10 |
- |
1 |
7-44190632-T-C |
c.406A>G |
p.K136E |
Missense |
4/10 |
- |
2 |
7-44190632-T-G |
c.406A>C |
p.K136Q |
Missense |
4/10 |
- |
2 |
7-44190633-G-C |
c.405C>G |
p.D135E |
Missense |
4/10 |
- |
2 |
7-44190633-G-T |
c.405C>A |
p.D135E |
Missense |
4/10 |
- |
2 |
7-44190633-GTC-CAT |
c.403_405delinsATG |
p.D135M |
Missense |
4/10 |
- |
1 |
7-44190633-GTC-CCA |
c.403_405delinsTGG |
p.D135W |
Missense |
4/10 |
- |
1 |
7-44190633-GTC-CTT |
c.403_405delinsAAG |
p.D135K |
Missense |
4/10 |
- |
1 |
7-44190633-GTC-TTG |
c.403_405delinsCAA |
p.D135Q |
Missense |
4/10 |
- |
1 |
7-44190634-T-A |
c.404A>T |
p.D135V |
Missense |
4/10 |
- |
1 |
7-44190634-T-C |
c.404A>G |
p.D135G |
Missense |
4/10 |
- |
1 |
7-44190634-TC-AA |
c.403_404delinsTT |
p.D135F |
Missense |
4/10 |
- |
1 |
7-44190634-TC-AG |
c.403_404delinsCT |
p.D135L |
Missense |
4/10 |
- |
1 |
7-44190634-TC-AT |
c.403_404delinsAT |
p.D135I |
Missense |
4/10 |
- |
1 |
7-44190634-TC-CA |
c.403_404delinsTG |
p.D135C |
Missense |
4/10 |
- |
1 |
7-44190634-TC-CG |
c.403_404delinsCG |
p.D135R |
Missense |
4/10 |
- |
1 |
7-44190634-TC-CT |
c.403_404delinsAG |
p.D135S |
Missense |
4/10 |
- |
1 |
7-44190634-TC-GG |
c.403_404delinsCC |
p.D135P |
Missense |
4/10 |
- |
1 |
7-44190634-TC-GT |
c.403_404delinsAC |
p.D135T |
Missense |
4/10 |
- |
1 |
7-44190634-T-G |
c.404A>C |
p.D135A |
Missense |
4/10 |
- |
1 |
7-44190635-C-A |
c.403G>T |
p.D135Y |
Missense |
4/10 |
- |
1 |
7-44190635-C-G |
c.403G>C |
p.D135H |
Missense |
4/10 |
- |
1 |
7-44190635-C-T |
c.403G>A |
p.D135N |
Missense |
4/10 |
- |
1 |
7-44190636-C-A |
c.402G>T |
p.L134= |
Synonymous |
4/10 |
- |
1 |
7-44190636-CA-AT |
c.401_402delinsAT |
p.L134H |
Missense |
4/10 |
- |
1 |
7-44190636-CAG-AAA |
c.400_402delinsTTT |
p.L134F |
Missense |
4/10 |
- |
1 |
7-44190636-CAG-ACA |
c.400_402delinsTGT |
p.L134C |
Missense |
4/10 |
- |
1 |
7-44190636-CAG-ATA |
c.400_402delinsTAT |
p.L134Y |
Missense |
4/10 |
- |
1 |
7-44190636-CAG-GAT |
c.400_402delinsATC |
p.L134I |
Missense |
4/10 |
- |
1 |
7-44190636-CAG-GTC |
c.400_402delinsGAC |
p.L134D |
Missense |
4/10 |
- |
1 |
7-44190636-CAG-GTT |
c.400_402delinsAAC |
p.L134N |
Missense |
4/10 |
- |
1 |
7-44190636-C-G |
c.402G>C |
p.L134= |
Synonymous |
4/10 |
- |
1 |
7-44190636-C-T |
c.402G>A |
p.L134= |
Synonymous |
4/10 |
- |
1 |
7-44190638-G-A |
c.400C>T |
p.L134= |
Synonymous |
4/10 |
- |
1 |
7-44190637-A-C |
c.401T>G |
p.L134R |
Missense |
4/10 |
- |
1 |
7-44190637-A-G |
c.401T>C |
p.L134P |
Missense |
4/10 |
- |
3 |
7-44190637-AG-CA |
c.400_401delinsTG |
p.L134W |
Missense |
4/10 |
- |
1 |
7-44190637-AG-CC |
c.400_401delinsGG |
p.L134G |
Missense |
4/10 |
- |
1 |
7-44190637-AG-GA |
c.400_401delinsTC |
p.L134S |
Missense |
4/10 |
- |
1 |
7-44190637-AG-GC |
c.400_401delinsGC |
p.L134A |
Missense |
4/10 |
- |
1 |
7-44190637-AG-GT |
c.400_401delinsAC |
p.L134T |
Missense |
4/10 |
- |
1 |
7-44190637-AG-TC |
c.400_401delinsGA |
p.L134E |
Missense |
4/10 |
- |
1 |
7-44190637-AG-TT |
c.400_401delinsAA |
p.L134K |
Missense |
4/10 |
- |
1 |
7-44190637-A-T |
c.401T>A |
p.L134Q |
Missense |
4/10 |
- |
1 |
7-44190638-G-C |
c.400C>G |
p.L134V |
Missense |
4/10 |
- |
1 |
7-44190638-G-T |
c.400C>A |
p.L134M |
Missense |
4/10 |
- |
1 |
7-44190639-G-A |
c.399C>T |
p.F133= |
Synonymous |
4/10 |
- |
1 |
7-44190639-GAA-CAT |
c.397_399delinsATG |
p.F133M |
Missense |
4/10 |
- |
1 |
7-44190639-GAA-CTC |
c.397_399delinsGAG |
p.F133E |
Missense |
4/10 |
- |
1 |
7-44190639-GAA-CTT |
c.397_399delinsAAG |
p.F133K |
Missense |
4/10 |
- |
1 |
7-44190639-GAA-TTG |
c.397_399delinsCAA |
p.F133Q |
Missense |
4/10 |
- |
1 |
7-44190639-GA-CC |
c.398_399delinsGG |
p.F133W |
Missense |
4/10 |
- |
1 |
7-44190639-G-GGGAGATGCACTCAGAGATGT |
c.398_399insACATCTCTGAGTGCATCTCC |
p.F133Lfs*4 |
Frameshift |
4/10 |
- |
1 |
7-44190639-G-GAGTCGGAGATGCACTCAGAGATGT |
c.398_399insACATCTCTGAGTGCATCTCCGACT |
p.F133delinsLHL* |
Frameshift |
4/10 |
- |
1 |
7-44190640-AA-CC |
c.397_398delinsGG |
p.F133G |
Missense |
4/10 |
- |
1 |
7-44190640-AA-CG |
c.397_398delinsCG |
p.F133R |
Missense |
4/10 |
- |
1 |
7-44190640-AA-GC |
c.397_398delinsGC |
p.F133A |
Missense |
4/10 |
- |
1 |
7-44190640-AA-GG |
c.397_398delinsCC |
p.F133P |
Missense |
4/10 |
- |
1 |
7-44190640-AA-GT |
c.397_398delinsAC |
p.F133T |
Missense |
4/10 |
- |
1 |
7-44190640-AA-TC |
c.397_398delinsGA |
p.F133D |
Missense |
4/10 |
- |
1 |
7-44190640-AA-TG |
c.397_398delinsCA |
p.F133H |
Missense |
4/10 |
- |
1 |
7-44190640-AA-TT |
c.397_398inv |
p.F133N |
Missense |
4/10 |
- |
1 |
7-44190640-A-C |
c.398T>G |
p.F133C |
Missense |
4/10 |
- |
1 |
7-44190640-A-G |
c.398T>C |
p.F133S |
Missense |
4/10 |
- |
1 |
7-44190640-A-T |
c.398T>A |
p.F133Y |
Missense |
4/10 |
- |
1 |
7-44190639-G-C |
c.399C>G |
p.F133L |
Missense |
4/10 |
- |
3 |
7-44190639-G-T |
c.399C>A |
p.F133L |
Missense |
4/10 |
- |
3 |
7-44190641-A-C |
c.397T>G |
p.F133V |
Missense |
4/10 |
- |
1 |
7-44190641-A-G |
c.397T>C |
p.F133L |
Missense |
4/10 |
- |
4 |
7-44190641-A-T |
c.397T>A |
p.F133I |
Missense |
4/10 |
- |
1 |
7-44190642-G-A |
c.396C>T |
p.D132= |
Synonymous |
4/10 |
- |
4 |
7-44190642-G-C |
c.396C>G |
p.D132E |
Missense |
4/10 |
- |
1 |
7-44190642-G-T |
c.396C>A |
p.D132E |
Missense |
4/10 |
- |
2 |
7-44190642-GTC-CAT |
c.394_396delinsATG |
p.D132M |
Missense |
4/10 |
- |
1 |
7-44190642-GTC-CCA |
c.394_396delinsTGG |
p.D132W |
Missense |
4/10 |
- |
1 |
7-44190642-GTC-CTT |
c.394_396delinsAAG |
p.D132K |
Missense |
4/10 |
- |
1 |
7-44190642-GTC-TTG |
c.394_396delinsCAA |
p.D132Q |
Missense |
4/10 |
- |
1 |
7-44190643-T-A |
c.395A>T |
p.D132V |
Missense |
4/10 |
- |
1 |
7-44190643-T-C |
c.395A>G |
p.D132G |
Missense |
4/10 |
- |
1 |
7-44190643-TC-AA |
c.394_395delinsTT |
p.D132F |
Missense |
4/10 |
- |
1 |
7-44190643-TC-AG |
c.394_395delinsCT |
p.D132L |
Missense |
4/10 |
- |
1 |
7-44190643-TC-AT |
c.394_395delinsAT |
p.D132I |
Missense |
4/10 |
- |
1 |
7-44190643-TC-CA |
c.394_395delinsTG |
p.D132C |
Missense |
4/10 |
- |
1 |
7-44190643-TC-CG |
c.394_395delinsCG |
p.D132R |
Missense |
4/10 |
- |
1 |
7-44190643-TC-CT |
c.394_395delinsAG |
p.D132S |
Missense |
4/10 |
- |
1 |
7-44190643-TC-GG |
c.394_395delinsCC |
p.D132P |
Missense |
4/10 |
- |
1 |
7-44190643-TC-GT |
c.394_395delinsAC |
p.D132T |
Missense |
4/10 |
- |
1 |
7-44190643-T-G |
c.395A>C |
p.D132A |
Missense |
4/10 |
- |
2 |
7-44190644-C-A |
c.394G>T |
p.D132Y |
Missense |
4/10 |
- |
1 |
7-44190644-C-G |
c.394G>C |
p.D132H |
Missense |
4/10 |
- |
1 |
7-44190644-C-T |
c.394G>A |
p.D132N |
Missense |
4/10 |
- |
5 |
7-44190645-GGA-CAT |
c.391_393delinsATG |
p.S131M |
Missense |
4/10 |
- |
1 |
7-44190645-GGA-CTC |
c.391_393delinsGAG |
p.S131E |
Missense |
4/10 |
- |
1 |
7-44190645-GGA-CTT |
c.391_393delinsAAG |
p.S131K |
Missense |
4/10 |
- |
1 |
7-44190645-GGA-TTG |
c.391_393delinsCAA |
p.S131Q |
Missense |
4/10 |
- |
1 |
7-44190645-GG-CC |
c.392_393inv |
p.S131W |
Missense |
4/10 |
- |
1 |
7-44190644-CG-C |
c.393del |
p.D132Tfs*8 |
Frameshift |
4/10 |
- |
1 |
7-44190646-G-A |
c.392C>T |
p.S131F |
Missense |
4/10 |
- |
1 |
7-44190646-GA-AC |
c.391_392delinsGT |
p.S131V |
Missense |
4/10 |
- |
1 |
7-44190646-GA-AG |
c.391_392delinsCT |
p.S131L |
Missense |
4/10 |
- |
1 |
7-44190646-GA-AT |
c.391_392delinsAT |
p.S131I |
Missense |
4/10 |
- |
1 |
7-44190646-GA-CC |
c.391_392delinsGG |
p.S131G |
Missense |
4/10 |
- |
1 |
7-44190646-GA-CG |
c.391_392delinsCG |
p.S131R |
Missense |
4/10 |
- |
1 |
7-44190646-GA-TC |
c.391_392inv |
p.S131D |
Missense |
4/10 |
- |
1 |
7-44190646-GA-TG |
c.391_392delinsCA |
p.S131H |
Missense |
4/10 |
- |
1 |
7-44190646-GA-TT |
c.391_392delinsAA |
p.S131N |
Missense |
4/10 |
- |
1 |
7-44190646-G-C |
c.392C>G |
p.S131C |
Missense |
4/10 |
- |
1 |
7-44190646-G-T |
c.392C>A |
p.S131Y |
Missense |
4/10 |
- |
1 |
7-44190647-A-C |
c.391T>G |
p.S131A |
Missense |
4/10 |
- |
1 |
7-44190647-A-G |
c.391T>C |
p.S131P |
Missense |
4/10 |
- |
14 |
7-44190647-A-T |
c.391T>A |
p.S131T |
Missense |
4/10 |
- |
1 |
7-44190648-GA-CC |
c.389_390delinsGG |
p.I130R |
Missense |
4/10 |
- |
1 |
7-44190648-GA-CT |
c.389_390delinsAG |
p.I130K |
Missense |
4/10 |
- |
1 |
7-44190648-GAT-CCA |
c.388_390delinsTGG |
p.I130W |
Missense |
4/10 |
- |
1 |
7-44190648-GAT-CTC |
c.388_390delinsGAG |
p.I130E |
Missense |
4/10 |
- |
1 |
7-44190648-GAT-TTG |
c.388_390delinsCAA |
p.I130Q |
Missense |
4/10 |
- |
1 |
7-44190648-G-C |
c.390C>G |
p.I130M |
Missense |
4/10 |
- |
1 |
7-44190649-A-C |
c.389T>G |
p.I130S |
Missense |
4/10 |
- |
1 |
7-44190649-A-G |
c.389T>C |
p.I130T |
Missense |
4/10 |
- |
7 |
7-44190649-A-T |
c.389T>A |
p.I130N |
Missense |
4/10 |
- |
2 |
7-44190649-AT-CA |
c.388_389delinsTG |
p.I130C |
Missense |
4/10 |
- |
1 |
7-44190649-AT-CC |
c.388_389delinsGG |
p.I130G |
Missense |
4/10 |
- |
1 |
7-44190649-AT-GC |
c.388_389delinsGC |
p.I130A |
Missense |
4/10 |
- |
1 |
7-44190649-AT-GG |
c.388_389delinsCC |
p.I130P |
Missense |
4/10 |
- |
1 |
7-44190649-AT-TA |
c.388_389delinsTA |
p.I130Y |
Missense |
4/10 |
- |
1 |
7-44190649-AT-TC |
c.388_389delinsGA |
p.I130D |
Missense |
4/10 |
- |
1 |
7-44190649-AT-TG |
c.388_389delinsCA |
p.I130H |
Missense |
4/10 |
- |
1 |
7-44190650-T-A |
c.388A>T |
p.I130F |
Missense |
4/10 |
- |
1 |
7-44190650-T-C |
c.388A>G |
p.I130V |
Missense |
4/10 |
- |
1 |
7-44190650-T-G |
c.388A>C |
p.I130L |
Missense |
4/10 |
- |
1 |
7-44190651-G-A |
c.387C>T |
p.C129= |
Synonymous |
4/10 |
- |
1 |
7-44190651-G-C |
c.387C>G |
p.C129W |
Missense |
4/10 |
- |
1 |
7-44190651-GCA-CAT |
c.385_387delinsATG |
p.C129M |
Missense |
4/10 |
- |
1 |
7-44190651-GCA-CTC |
c.385_387delinsGAG |
p.C129E |
Missense |
4/10 |
- |
1 |
7-44190651-GCA-CTT |
c.385_387delinsAAG |
p.C129K |
Missense |
4/10 |
- |
1 |
7-44190651-GCA-TTG |
c.385_387delinsCAA |
p.C129Q |
Missense |
4/10 |
- |
1 |
7-44190651-G-T |
c.387C>A |
p.C129* |
Nonsense |
4/10 |
- |
2 |
7-44190652-C-A |
c.386G>T |
p.C129F |
Missense |
4/10 |
- |
4 |
7-44190652-CA-AC |
c.385_386delinsGT |
p.C129V |
Missense |
4/10 |
- |
1 |
7-44190652-CA-AG |
c.385_386delinsCT |
p.C129L |
Missense |
4/10 |
- |
1 |
7-44190652-CA-AT |
c.385_386delinsAT |
p.C129I |
Missense |
4/10 |
- |
1 |
7-44190652-CA-GC |
c.385_386delinsGC |
p.C129A |
Missense |
4/10 |
- |
1 |
7-44190652-CA-GG |
c.385_386delinsCC |
p.C129P |
Missense |
4/10 |
- |
1 |
7-44190652-CA-GT |
c.385_386delinsAC |
p.C129T |
Missense |
4/10 |
- |
1 |
7-44190652-CA-TC |
c.385_386delinsGA |
p.C129D |
Missense |
4/10 |
- |
1 |
7-44190652-CA-TG |
c.385_386inv |
p.C129H |
Missense |
4/10 |
- |
1 |
7-44190652-CA-TT |
c.385_386delinsAA |
p.C129N |
Missense |
4/10 |
- |
1 |
7-44190652-C-T |
c.386G>A |
p.C129Y |
Missense |
4/10 |
- |
5 |
7-44190652-C-G |
c.386G>C |
p.C129S |
Missense |
4/10 |
- |
1 |
7-44190653-A-C |
c.385T>G |
p.C129G |
Missense |
4/10 |
- |
1 |
7-44190653-A-G |
c.385T>C |
p.C129R |
Missense |
4/10 |
- |
3 |
7-44190653-A-T |
c.385T>A |
p.C129S |
Missense |
4/10 |
- |
1 |
7-44190654-C-A |
c.384G>T |
p.E128D |
Missense |
4/10 |
- |
1 |
7-44190654-C-G |
c.384G>C |
p.E128D |
Missense |
4/10 |
- |
1 |
7-44190654-CTC-AAA |
c.382_384delinsTTT |
p.E128F |
Missense |
4/10 |
- |
1 |
7-44190654-CTC-ACA |
c.382_384delinsTGT |
p.E128C |
Missense |
4/10 |
- |
1 |
7-44190654-CTC-ATA |
c.382_384delinsTAT |
p.E128Y |
Missense |
4/10 |
- |
1 |
7-44190654-CTC-ATG |
c.382_384delinsCAT |
p.E128H |
Missense |
4/10 |
- |
1 |
7-44190654-CTC-GAT |
c.382_384delinsATC |
p.E128I |
Missense |
4/10 |
- |
1 |
7-44190654-CTC-GTT |
c.382_384delinsAAC |
p.E128N |
Missense |
4/10 |
- |
1 |
7-44190655-T-A |
c.383A>T |
p.E128V |
Missense |
4/10 |
- |
1 |
7-44190655-T-C |
c.383A>G |
p.E128G |
Missense |
4/10 |
- |
1 |
7-44190655-TC-AG |
c.382_383delinsCT |
p.E128L |
Missense |
4/10 |
- |
1 |
7-44190655-TC-AT |
c.382_383delinsAT |
p.E128M |
Missense |
4/10 |
- |
1 |
7-44190655-TC-CA |
c.382_383delinsTG |
p.E128W |
Missense |
4/10 |
- |
1 |
7-44190655-TC-CT |
c.382_383delinsAG |
p.E128R |
Missense |
4/10 |
- |
1 |
7-44190655-TC-GA |
c.382_383inv |
p.E128S |
Missense |
4/10 |
- |
1 |
7-44190655-TC-GG |
c.382_383delinsCC |
p.E128P |
Missense |
4/10 |
- |
1 |
7-44190655-TC-GT |
c.382_383delinsAC |
p.E128T |
Missense |
4/10 |
- |
1 |
7-44190655-T-G |
c.383A>C |
p.E128A |
Missense |
4/10 |
- |
1 |
7-44190656-C-G |
c.382G>C |
p.E128Q |
Missense |
4/10 |
- |
1 |
7-44190656-C-T |
c.382G>A |
p.E128K |
Missense |
4/10 |
- |
1 |
7-44190657-AGA-CAT |
c.379_381delinsATG |
p.S127M |
Missense |
4/10 |
- |
1 |
7-44190657-AGA-CTC |
c.379_381delinsGAG |
p.S127E |
Missense |
4/10 |
- |
1 |
7-44190657-AGA-CTT |
c.379_381delinsAAG |
p.S127K |
Missense |
4/10 |
- |
1 |
7-44190657-AGA-TTG |
c.379_381delinsCAA |
p.S127Q |
Missense |
4/10 |
- |
1 |
7-44190657-AG-CC |
c.380_381delinsGG |
p.S127W |
Missense |
4/10 |
- |
1 |
7-44190658-G-A |
c.380C>T |
p.S127F |
Missense |
4/10 |
- |
3 |
7-44190658-GA-AC |
c.379_380delinsGT |
p.S127V |
Missense |
4/10 |
- |
1 |
7-44190658-GA-AG |
c.379_380delinsCT |
p.S127L |
Missense |
4/10 |
- |
1 |
7-44190658-GA-AT |
c.379_380delinsAT |
p.S127I |
Missense |
4/10 |
- |
1 |
7-44190658-GA-CC |
c.379_380delinsGG |
p.S127G |
Missense |
4/10 |
- |
1 |
7-44190658-GA-CG |
c.379_380delinsCG |
p.S127R |
Missense |
4/10 |
- |
1 |
7-44190658-GA-TC |
c.379_380inv |
p.S127D |
Missense |
4/10 |
- |
1 |
7-44190658-GA-TG |
c.379_380delinsCA |
p.S127H |
Missense |
4/10 |
- |
1 |
7-44190658-GA-TT |
c.379_380delinsAA |
p.S127N |
Missense |
4/10 |
- |
1 |
7-44190658-G-C |
c.380C>G |
p.S127C |
Missense |
4/10 |
- |
1 |
7-44190658-G-T |
c.380C>A |
p.S127Y |
Missense |
4/10 |
- |
1 |
7-44190659-A-C |
c.379T>G |
p.S127A |
Missense |
4/10 |
- |
1 |
7-44190659-A-G |
c.379T>C |
p.S127P |
Missense |
4/10 |
- |
2 |
7-44190659-A-T |
c.379T>A |
p.S127T |
Missense |
4/10 |
- |
1 |
7-44190660-GA-CC |
c.377_378delinsGG |
p.I126R |
Missense |
4/10 |
- |
1 |
7-44190660-GA-CT |
c.377_378delinsAG |
p.I126K |
Missense |
4/10 |
- |
1 |
7-44190660-GAT-CCA |
c.376_378delinsTGG |
p.I126W |
Missense |
4/10 |
- |
1 |
7-44190660-GAT-CTC |
c.376_378delinsGAG |
p.I126E |
Missense |
4/10 |
- |
1 |
7-44190660-GAT-TTG |
c.376_378delinsCAA |
p.I126Q |
Missense |
4/10 |
- |
1 |
7-44190660-G-C |
c.378C>G |
p.I126M |
Missense |
4/10 |
- |
2 |
7-44190661-A-C |
c.377T>G |
p.I126S |
Missense |
4/10 |
- |
1 |
7-44190661-A-G |
c.377T>C |
p.I126T |
Missense |
4/10 |
- |
1 |
7-44190661-A-T |
c.377T>A |
p.I126N |
Missense |
4/10 |
- |
1 |
7-44190661-AT-CA |
c.376_377delinsTG |
p.I126C |
Missense |
4/10 |
- |
1 |
7-44190661-AT-CC |
c.376_377delinsGG |
p.I126G |
Missense |
4/10 |
- |
1 |
7-44190661-AT-GC |
c.376_377delinsGC |
p.I126A |
Missense |
4/10 |
- |
1 |
7-44190661-AT-GG |
c.376_377delinsCC |
p.I126P |
Missense |
4/10 |
- |
1 |
7-44190661-AT-TA |
c.376_377delinsTA |
p.I126Y |
Missense |
4/10 |
- |
1 |
7-44190661-AT-TC |
c.376_377delinsGA |
p.I126D |
Missense |
4/10 |
- |
1 |
7-44190661-AT-TG |
c.376_377delinsCA |
p.I126H |
Missense |
4/10 |
- |
1 |
7-44190662-T-A |
c.376A>T |
p.I126F |
Missense |
4/10 |
- |
1 |
7-44190662-T-C |
c.376A>G |
p.I126V |
Missense |
4/10 |
- |
1 |
7-44190662-T-G |
c.376A>C |
p.I126L |
Missense |
4/10 |
- |
1 |
7-44190663-GTA-CAT |
c.373_375delinsATG |
p.Y125M |
Missense |
4/10 |
- |
1 |
7-44190663-GTA-CTC |
c.373_375delinsGAG |
p.Y125E |
Missense |
4/10 |
- |
1 |
7-44190663-GTA-CTT |
c.373_375delinsAAG |
p.Y125K |
Missense |
4/10 |
- |
1 |
7-44190663-GTA-TTG |
c.373_375delinsCAA |
p.Y125Q |
Missense |
4/10 |
- |
1 |
7-44190663-GT-CC |
c.374_375delinsGG |
p.Y125W |
Missense |
4/10 |
- |
1 |
7-44190664-T-A |
c.374A>T |
p.Y125F |
Missense |
4/10 |
- |
1 |
7-44190664-TA-AC |
c.373_374delinsGT |
p.Y125V |
Missense |
4/10 |
- |
1 |
7-44190664-TA-AG |
c.373_374delinsCT |
p.Y125L |
Missense |
4/10 |
- |
1 |
7-44190664-TA-AT |
c.373_374delinsAT |
p.Y125I |
Missense |
4/10 |
- |
1 |
7-44190664-TA-CC |
c.373_374delinsGG |
p.Y125G |
Missense |
4/10 |
- |
1 |
7-44190664-TA-CG |
c.373_374delinsCG |
p.Y125R |
Missense |
4/10 |
- |
1 |
7-44190664-TA-GC |
c.373_374delinsGC |
p.Y125A |
Missense |
4/10 |
- |
1 |
7-44190664-TA-GG |
c.373_374delinsCC |
p.Y125P |
Missense |
4/10 |
- |
1 |
7-44190664-TA-GT |
c.373_374delinsAC |
p.Y125T |
Missense |
4/10 |
- |
1 |
7-44190664-T-C |
c.374A>G |
p.Y125C |
Missense |
4/10 |
- |
3 |
7-44190664-T-G |
c.374A>C |
p.Y125S |
Missense |
4/10 |
- |
1 |
7-44190665-A-C |
c.373T>G |
p.Y125D |
Missense |
4/10 |
- |
1 |
7-44190665-A-G |
c.373T>C |
p.Y125H |
Missense |
4/10 |
- |
1 |
7-44190665-A-T |
c.373T>A |
p.Y125N |
Missense |
4/10 |
- |
1 |
7-44190666-G-A |
c.372C>T |
p.D124= |
Synonymous |
4/10 |
- |
1 |
7-44190666-G-C |
c.372C>G |
p.D124E |
Missense |
4/10 |
- |
1 |
7-44190666-G-T |
c.372C>A |
p.D124E |
Missense |
4/10 |
- |
2 |
7-44190666-GTC-CAT |
c.370_372delinsATG |
p.D124M |
Missense |
4/10 |
- |
1 |
7-44190666-GTC-CCA |
c.370_372delinsTGG |
p.D124W |
Missense |
4/10 |
- |
1 |
7-44190666-GTC-CTT |
c.370_372delinsAAG |
p.D124K |
Missense |
4/10 |
- |
1 |
7-44190666-GTC-TTG |
c.370_372delinsCAA |
p.D124Q |
Missense |
4/10 |
- |
1 |
7-44190667-T-A |
c.371A>T |
p.D124V |
Missense |
4/10 |
- |
4 |
7-44190667-T-C |
c.371A>G |
p.D124G |
Missense |
4/10 |
- |
1 |
7-44190667-TC-AA |
c.370_371delinsTT |
p.D124F |
Missense |
4/10 |
- |
1 |
7-44190667-TC-AG |
c.370_371delinsCT |
p.D124L |
Missense |
4/10 |
- |
1 |
7-44190667-TC-AT |
c.370_371delinsAT |
p.D124I |
Missense |
4/10 |
- |
1 |
7-44190667-TC-CA |
c.370_371delinsTG |
p.D124C |
Missense |
4/10 |
- |
1 |
7-44190667-TC-CG |
c.370_371delinsCG |
p.D124R |
Missense |
4/10 |
- |
1 |
7-44190667-TC-CT |
c.370_371delinsAG |
p.D124S |
Missense |
4/10 |
- |
1 |
7-44190667-TC-GG |
c.370_371delinsCC |
p.D124P |
Missense |
4/10 |
- |
1 |
7-44190667-TC-GT |
c.370_371delinsAC |
p.D124T |
Missense |
4/10 |
- |
1 |
7-44190667-T-G |
c.371A>C |
p.D124A |
Missense |
4/10 |
- |
1 |
7-44190668-C-A |
c.370G>T |
p.D124Y |
Missense |
4/10 |
- |
1 |
7-44190668-C-G |
c.370G>C |
p.D124H |
Missense |
4/10 |
- |
2 |
7-44190668-C-T |
c.370G>A |
p.D124N |
Missense |
4/10 |
- |
11 |
7-44190669-G-A |
c.369C>T |
p.F123= |
Synonymous |
4/10 |
- |
2 |
7-44190669-GAA-CAT |
c.367_369delinsATG |
p.F123M |
Missense |
4/10 |
- |
1 |
7-44190669-GAA-CTC |
c.367_369delinsGAG |
p.F123E |
Missense |
4/10 |
- |
1 |
7-44190669-GAA-CTT |
c.367_369delinsAAG |
p.F123K |
Missense |
4/10 |
- |
1 |
7-44190669-GAA-TTG |
c.367_369delinsCAA |
p.F123Q |
Missense |
4/10 |
- |
1 |
7-44190669-GA-CC |
c.368_369delinsGG |
p.F123W |
Missense |
4/10 |
- |
1 |
7-44190670-AA-CC |
c.367_368delinsGG |
p.F123G |
Missense |
4/10 |
- |
1 |
7-44190670-AA-CG |
c.367_368delinsCG |
p.F123R |
Missense |
4/10 |
- |
1 |
7-44190670-AA-GC |
c.367_368delinsGC |
p.F123A |
Missense |
4/10 |
- |
1 |
7-44190670-AA-GG |
c.367_368delinsCC |
p.F123P |
Missense |
4/10 |
- |
1 |
7-44190670-AA-GT |
c.367_368delinsAC |
p.F123T |
Missense |
4/10 |
- |
1 |
7-44190670-AA-TC |
c.367_368delinsGA |
p.F123D |
Missense |
4/10 |
- |
1 |
7-44190670-AA-TG |
c.367_368delinsCA |
p.F123H |
Missense |
4/10 |
- |
1 |
7-44190670-AA-TT |
c.367_368inv |
p.F123N |
Missense |
4/10 |
- |
1 |
7-44190670-A-C |
c.368T>G |
p.F123C |
Missense |
4/10 |
- |
1 |
7-44190670-A-G |
c.368T>C |
p.F123S |
Missense |
4/10 |
- |
3 |
7-44190670-A-T |
c.368T>A |
p.F123Y |
Missense |
4/10 |
- |
1 |
7-44190669-G-C |
c.369C>G |
p.F123L |
Missense |
4/10 |
- |
6 |
7-44190669-G-T |
c.369C>A |
p.F123L |
Missense |
4/10 |
- |
5 |
7-44190671-A-C |
c.367T>G |
p.F123V |
Missense |
4/10 |
- |
1 |
7-44190671-A-G |
c.367T>C |
p.F123L |
Missense |
4/10 |
- |
5 |
7-44190671-A-T |
c.367T>A |
p.F123I |
Missense |
4/10 |
- |
1 |
7-44190672-G-A |
c.366C>T |
p.L122= |
Synonymous |
4/10 |
- |
1 |
7-44190672-GAG-CAT |
c.364_366delinsATG |
p.L122M |
Missense |
4/10 |
- |
1 |
7-44190672-GAG-CCA |
c.364_366delinsTGG |
p.L122W |
Missense |
4/10 |
- |
1 |
7-44190672-GAG-CTC |
c.364_366inv |
p.L122E |
Missense |
4/10 |
- |
1 |
7-44190672-GAG-CTT |
c.364_366delinsAAG |
p.L122K |
Missense |
4/10 |
- |
1 |
7-44190672-GA-TT |
c.365_366delinsAA |
p.L122Q |
Missense |
4/10 |
- |
1 |
7-44190672-G-C |
c.366C>G |
p.L122= |
Synonymous |
4/10 |
- |
1 |
7-44190672-G-T |
c.366C>A |
p.L122= |
Synonymous |
4/10 |
- |
1 |
7-44190673-A-C |
c.365T>G |
p.L122R |
Missense |
4/10 |
- |
1 |
7-44190673-A-G |
c.365T>C |
p.L122P |
Missense |
4/10 |
- |
2 |
7-44190673-AG-CA |
c.364_365delinsTG |
p.L122C |
Missense |
4/10 |
- |
1 |
7-44190673-AG-CC |
c.364_365delinsGG |
p.L122G |
Missense |
4/10 |
- |
1 |
7-44190673-AG-CT |
c.364_365inv |
p.L122S |
Missense |
4/10 |
- |
1 |
7-44190673-AG-GC |
c.364_365delinsGC |
p.L122A |
Missense |
4/10 |
- |
1 |
7-44190673-AG-GT |
c.364_365delinsAC |
p.L122T |
Missense |
4/10 |
- |
1 |
7-44190673-AG-TA |
c.364_365delinsTA |
p.L122Y |
Missense |
4/10 |
- |
1 |
7-44190673-AG-TC |
c.364_365delinsGA |
p.L122D |
Missense |
4/10 |
- |
1 |
7-44190673-AG-TT |
c.364_365delinsAA |
p.L122N |
Missense |
4/10 |
- |
1 |
7-44190673-A-T |
c.365T>A |
p.L122H |
Missense |
4/10 |
- |
1 |
7-44190674-G-A |
c.364C>T |
p.L122F |
Missense |
4/10 |
- |
7 |
7-44190674-G-C |
c.364C>G |
p.L122V |
Missense |
4/10 |
- |
2 |
7-44190674-G-T |
c.364C>A |
p.L122I |
Missense |
4/10 |
- |
4 |
7-44190712-G-C |
c.364-38C>G |
- |
IntronicSNV |
- |
3/9 |
1 |
7-44191190-T-A |
c.364-516A>T |
- |
IntronicSNV |
- |
3/9 |
2 |
7-44191190-T-G |
c.364-516A>C |
- |
IntronicSNV |
- |
3/9 |
2 |
7-44191309-C-T |
c.363+561G>A |
- |
IntronicSNV |
- |
3/9 |
3 |
7-44191346-T-C |
c.363+524A>G |
- |
IntronicSNV |
- |
3/9 |
2 |
7-44191552-C-T |
c.363+318G>A |
- |
IntronicSNV |
- |
3/9 |
1 |
7-44191652-G-A |
c.363+218C>T |
- |
IntronicSNV |
- |
3/9 |
1 |
7-44191705-G-A |
c.363+165C>T |
- |
IntronicSNV |
- |
3/9 |
2 |
7-44191706-C-T |
c.363+164G>A |
- |
IntronicSNV |
- |
3/9 |
1 |
7-44191761-C-T |
c.363+109G>A |
- |
IntronicSNV |
- |
3/9 |
1 |
7-44191800-C-T |
c.363+70G>A |
- |
IntronicSNV |
- |
3/9 |
1 |
7-44191861-G-A |
c.363+9C>T |
- |
IntronicSNV |
- |
3/9 |
1 |
7-44191864-G-T |
c.363+6C>A |
- |
IntronicSNV |
- |
3/9 |
1 |
7-44191869-C-G |
c.363+1G>C |
- |
IntronicSNV |
- |
3/9 |
1 |
7-44191868-AC-A |
c.363+1del |
- |
IntronicDeletion |
3/10 |
- |
1 |
7-44191870-C-A |
c.363G>T |
p.M121I |
Missense |
3/10 |
- |
1 |
7-44191870-CA-GC |
c.362_363delinsGC |
p.M121S |
Missense |
3/10 |
- |
1 |
7-44191870-CA-GT |
c.362_363delinsAC |
p.M121N |
Missense |
3/10 |
- |
1 |
7-44191870-CAT-AAA |
c.361_363delinsTTT |
p.M121F |
Missense |
3/10 |
- |
1 |
7-44191870-CAT-ACA |
c.361_363delinsTGT |
p.M121C |
Missense |
3/10 |
- |
1 |
7-44191870-CAT-ATA |
c.361_363delinsTAT |
p.M121Y |
Missense |
3/10 |
- |
1 |
7-44191870-CAT-ATG |
c.361_363inv |
p.M121H |
Missense |
3/10 |
- |
1 |
7-44191870-CAT-GTC |
c.361_363delinsGAC |
p.M121D |
Missense |
3/10 |
- |
1 |
7-44191870-C-G |
c.363G>C |
p.M121I |
Missense |
3/10 |
- |
1 |
7-44191870-C-T |
c.363G>A |
p.M121I |
Missense |
3/10 |
- |
1 |
7-44191871-A-C |
c.362T>G |
p.M121R |
Missense |
3/10 |
- |
1 |
7-44191871-A-G |
c.362T>C |
p.M121T |
Missense |
3/10 |
- |
1 |
7-44191871-A-T |
c.362T>A |
p.M121K |
Missense |
3/10 |
- |
2 |
7-44191871-AT-CA |
c.361_362delinsTG |
p.M121W |
Missense |
3/10 |
- |
1 |
7-44191871-AT-CC |
c.361_362delinsGG |
p.M121G |
Missense |
3/10 |
- |
1 |
7-44191871-AT-GC |
c.361_362delinsGC |
p.M121A |
Missense |
3/10 |
- |
2 |
7-44191871-AT-GG |
c.361_362delinsCC |
p.M121P |
Missense |
3/10 |
- |
1 |
7-44191871-AT-TC |
c.361_362delinsGA |
p.M121E |
Missense |
3/10 |
- |
1 |
7-44191871-AT-TG |
c.361_362delinsCA |
p.M121Q |
Missense |
3/10 |
- |
1 |
7-44191872-T-A |
c.361A>T |
p.M121L |
Missense |
3/10 |
- |
1 |
7-44191872-T-C |
c.361A>G |
p.M121V |
Missense |
3/10 |
- |
1 |
7-44191872-T-G |
c.361A>C |
p.M121L |
Missense |
3/10 |
- |
1 |
7-44191873-C-A |
c.360G>T |
p.E120D |
Missense |
3/10 |
- |
1 |
7-44191873-C-G |
c.360G>C |
p.E120D |
Missense |
3/10 |
- |
1 |
7-44191873-CTC-AAA |
c.358_360delinsTTT |
p.E120F |
Missense |
3/10 |
- |
1 |
7-44191873-CTC-ACA |
c.358_360delinsTGT |
p.E120C |
Missense |
3/10 |
- |
1 |
7-44191873-CTC-ATA |
c.358_360delinsTAT |
p.E120Y |
Missense |
3/10 |
- |
1 |
7-44191873-CTC-ATG |
c.358_360delinsCAT |
p.E120H |
Missense |
3/10 |
- |
1 |
7-44191873-CTC-GAT |
c.358_360delinsATC |
p.E120I |
Missense |
3/10 |
- |
1 |
7-44191873-CTC-GTT |
c.358_360delinsAAC |
p.E120N |
Missense |
3/10 |
- |
1 |
7-44191874-T-A |
c.359A>T |
p.E120V |
Missense |
3/10 |
- |
1 |
7-44191874-T-C |
c.359A>G |
p.E120G |
Missense |
3/10 |
- |
1 |
7-44191874-TC-AG |
c.358_359delinsCT |
p.E120L |
Missense |
3/10 |
- |
1 |
7-44191874-TC-AT |
c.358_359delinsAT |
p.E120M |
Missense |
3/10 |
- |
1 |
7-44191874-TC-CA |
c.358_359delinsTG |
p.E120W |
Missense |
3/10 |
- |
1 |
7-44191874-TC-CT |
c.358_359delinsAG |
p.E120R |
Missense |
3/10 |
- |
1 |
7-44191874-TC-GA |
c.358_359inv |
p.E120S |
Missense |
3/10 |
- |
1 |
7-44191874-TC-GG |
c.358_359delinsCC |
p.E120P |
Missense |
3/10 |
- |
1 |
7-44191874-TC-GT |
c.358_359delinsAC |
p.E120T |
Missense |
3/10 |
- |
1 |
7-44191874-T-G |
c.359A>C |
p.E120A |
Missense |
3/10 |
- |
1 |
7-44191875-C-G |
c.358G>C |
p.E120Q |
Missense |
3/10 |
- |
1 |
7-44191875-C-T |
c.358G>A |
p.E120K |
Missense |
3/10 |
- |
4 |
7-44191874-TCAGCAGTG-T |
c.351_358del |
p.T118Dfs*8 |
Frameshift |
3/10 |
- |
3 |
7-44191876-AGC-CAT |
c.355_357delinsATG |
p.A119M |
Missense |
3/10 |
- |
1 |
7-44191876-AGC-CCA |
c.355_357delinsTGG |
p.A119W |
Missense |
3/10 |
- |
1 |
7-44191876-AGC-CTT |
c.355_357delinsAAG |
p.A119K |
Missense |
3/10 |
- |
1 |
7-44191876-AG-CT |
c.356_357inv |
p.A119E |
Missense |
3/10 |
- |
1 |
7-44191876-AGC-TTG |
c.355_357delinsCAA |
p.A119Q |
Missense |
3/10 |
- |
1 |
7-44191877-G-A |
c.356C>T |
p.A119V |
Missense |
3/10 |
- |
1 |
7-44191877-G-C |
c.356C>G |
p.A119G |
Missense |
3/10 |
- |
1 |
7-44191877-GC-AA |
c.355_356delinsTT |
p.A119F |
Missense |
3/10 |
- |
1 |
7-44191877-GC-AG |
c.355_356delinsCT |
p.A119L |
Missense |
3/10 |
- |
1 |
7-44191877-GC-AT |
c.355_356delinsAT |
p.A119I |
Missense |
3/10 |
- |
1 |
7-44191877-GC-CA |
c.355_356delinsTG |
p.A119C |
Missense |
3/10 |
- |
1 |
7-44191877-GC-CG |
c.355_356delinsCG |
p.A119R |
Missense |
3/10 |
- |
1 |
7-44191877-GC-TA |
c.355_356delinsTA |
p.A119Y |
Missense |
3/10 |
- |
1 |
7-44191877-GC-TG |
c.355_356delinsCA |
p.A119H |
Missense |
3/10 |
- |
1 |
7-44191877-GC-TT |
c.355_356delinsAA |
p.A119N |
Missense |
3/10 |
- |
1 |
7-44191877-G-T |
c.356C>A |
p.A119D |
Missense |
3/10 |
- |
8 |
7-44191878-C-A |
c.355G>T |
p.A119S |
Missense |
3/10 |
- |
1 |
7-44191878-C-G |
c.355G>C |
p.A119P |
Missense |
3/10 |
- |
1 |
7-44191878-C-T |
c.355G>A |
p.A119T |
Missense |
3/10 |
- |
2 |
7-44191879-AG-CA |
c.353_354delinsTG |
p.T118M |
Missense |
3/10 |
- |
1 |
7-44191879-AG-CC |
c.353_354delinsGG |
p.T118R |
Missense |
3/10 |
- |
1 |
7-44191879-AG-CT |
c.353_354inv |
p.T118K |
Missense |
3/10 |
- |
1 |
7-44191879-AGT-CCA |
c.352_354delinsTGG |
p.T118W |
Missense |
3/10 |
- |
1 |
7-44191879-AGT-CTC |
c.352_354delinsGAG |
p.T118E |
Missense |
3/10 |
- |
1 |
7-44191879-AGT-TTG |
c.352_354delinsCAA |
p.T118Q |
Missense |
3/10 |
- |
1 |
7-44191880-G-A |
c.353C>T |
p.T118I |
Missense |
3/10 |
- |
4 |
7-44191880-G-C |
c.353C>G |
p.T118S |
Missense |
3/10 |
- |
1 |
7-44191880-G-T |
c.353C>A |
p.T118N |
Missense |
3/10 |
- |
1 |
7-44191880-GT-AA |
c.352_353delinsTT |
p.T118F |
Missense |
3/10 |
- |
1 |
7-44191880-GT-AC |
c.352_353inv |
p.T118V |
Missense |
3/10 |
- |
1 |
7-44191880-GT-AG |
c.352_353delinsCT |
p.T118L |
Missense |
3/10 |
- |
1 |
7-44191880-GT-CA |
c.352_353delinsTG |
p.T118C |
Missense |
3/10 |
- |
1 |
7-44191880-GT-CC |
c.352_353delinsGG |
p.T118G |
Missense |
3/10 |
- |
1 |
7-44191880-GT-TA |
c.352_353delinsTA |
p.T118Y |
Missense |
3/10 |
- |
1 |
7-44191880-GT-TC |
c.352_353delinsGA |
p.T118D |
Missense |
3/10 |
- |
1 |
7-44191880-GT-TG |
c.352_353delinsCA |
p.T118H |
Missense |
3/10 |
- |
1 |
7-44191881-T-A |
c.352A>T |
p.T118S |
Missense |
3/10 |
- |
1 |
7-44191881-T-C |
c.352A>G |
p.T118A |
Missense |
3/10 |
- |
1 |
7-44191881-T-G |
c.352A>C |
p.T118P |
Missense |
3/10 |
- |
1 |
7-44191882-GCC-CAT |
c.349_351delinsATG |
p.G117M |
Missense |
3/10 |
- |
1 |
7-44191882-GCC-CCA |
c.349_351delinsTGG |
p.G117W |
Missense |
3/10 |
- |
1 |
7-44191882-GCC-CTT |
c.349_351delinsAAG |
p.G117K |
Missense |
3/10 |
- |
1 |
7-44191882-GC-CT |
c.350_351delinsAG |
p.G117E |
Missense |
3/10 |
- |
1 |
7-44191882-GCC-TTG |
c.349_351delinsCAA |
p.G117Q |
Missense |
3/10 |
- |
1 |
7-44191883-C-A |
c.350G>T |
p.G117V |
Missense |
3/10 |
- |
2 |
7-44191883-CC-AA |
c.349_350delinsTT |
p.G117F |
Missense |
3/10 |
- |
1 |
7-44191883-CC-AG |
c.349_350delinsCT |
p.G117L |
Missense |
3/10 |
- |
1 |
7-44191883-CC-AT |
c.349_350delinsAT |
p.G117I |
Missense |
3/10 |
- |
1 |
7-44191883-CC-GG |
c.349_350inv |
p.G117P |
Missense |
3/10 |
- |
1 |
7-44191883-CC-GT |
c.349_350delinsAC |
p.G117T |
Missense |
3/10 |
- |
1 |
7-44191883-CC-TA |
c.349_350delinsTA |
p.G117Y |
Missense |
3/10 |
- |
1 |
7-44191883-CC-TG |
c.349_350delinsCA |
p.G117H |
Missense |
3/10 |
- |
1 |
7-44191883-CC-TT |
c.349_350delinsAA |
p.G117N |
Missense |
3/10 |
- |
1 |
7-44191883-C-G |
c.350G>C |
p.G117A |
Missense |
3/10 |
- |
1 |
7-44191883-C-T |
c.350G>A |
p.G117D |
Missense |
3/10 |
- |
2 |
7-44191884-C-A |
c.349G>T |
p.G117C |
Missense |
3/10 |
- |
1 |
7-44191884-C-G |
c.349G>C |
p.G117R |
Missense |
3/10 |
- |
4 |
7-44191884-C-T |
c.349G>A |
p.G117S |
Missense |
3/10 |
- |
3 |
7-44191885-G-A |
c.348C>T |
p.T116= |
Synonymous |
3/10 |
- |
1 |
7-44191885-GG-CA |
c.347_348delinsTG |
p.T116M |
Missense |
3/10 |
- |
2 |
7-44191885-GG-CC |
c.347_348inv |
p.T116R |
Missense |
3/10 |
- |
1 |
7-44191885-GG-CT |
c.347_348delinsAG |
p.T116K |
Missense |
3/10 |
- |
1 |
7-44191885-GGT-CCA |
c.346_348delinsTGG |
p.T116W |
Missense |
3/10 |
- |
1 |
7-44191885-GGT-CTC |
c.346_348delinsGAG |
p.T116E |
Missense |
3/10 |
- |
1 |
7-44191885-GGT-TTG |
c.346_348delinsCAA |
p.T116Q |
Missense |
3/10 |
- |
1 |
7-44191886-G-A |
c.347C>T |
p.T116I |
Missense |
3/10 |
- |
3 |
7-44191886-G-C |
c.347C>G |
p.T116S |
Missense |
3/10 |
- |
1 |
7-44191886-G-T |
c.347C>A |
p.T116N |
Missense |
3/10 |
- |
1 |
7-44191886-GT-AA |
c.346_347delinsTT |
p.T116F |
Missense |
3/10 |
- |
1 |
7-44191886-GT-AC |
c.346_347inv |
p.T116V |
Missense |
3/10 |
- |
1 |
7-44191886-GT-AG |
c.346_347delinsCT |
p.T116L |
Missense |
3/10 |
- |
1 |
7-44191886-GT-CA |
c.346_347delinsTG |
p.T116C |
Missense |
3/10 |
- |
1 |
7-44191886-GT-CC |
c.346_347delinsGG |
p.T116G |
Missense |
3/10 |
- |
1 |
7-44191886-GT-TA |
c.346_347delinsTA |
p.T116Y |
Missense |
3/10 |
- |
1 |
7-44191886-GT-TC |
c.346_347delinsGA |
p.T116D |
Missense |
3/10 |
- |
1 |
7-44191886-GT-TG |
c.346_347delinsCA |
p.T116H |
Missense |
3/10 |
- |
1 |
7-44191887-T-A |
c.346A>T |
p.T116S |
Missense |
3/10 |
- |
1 |
7-44191887-T-C |
c.346A>G |
p.T116A |
Missense |
3/10 |
- |
1 |
7-44191887-T-G |
c.346A>C |
p.T116P |
Missense |
3/10 |
- |
2 |
7-44191888-C-A |
c.345G>T |
p.M115I |
Missense |
3/10 |
- |
2 |
7-44191888-CA-GC |
c.344_345delinsGC |
p.M115S |
Missense |
3/10 |
- |
1 |
7-44191888-CA-GT |
c.344_345delinsAC |
p.M115N |
Missense |
3/10 |
- |
1 |
7-44191888-CAT-AAA |
c.343_345delinsTTT |
p.M115F |
Missense |
3/10 |
- |
1 |
7-44191888-CAT-ACA |
c.343_345delinsTGT |
p.M115C |
Missense |
3/10 |
- |
1 |
7-44191888-CAT-ATA |
c.343_345delinsTAT |
p.M115Y |
Missense |
3/10 |
- |
1 |
7-44191888-CAT-ATG |
c.343_345inv |
p.M115H |
Missense |
3/10 |
- |
1 |
7-44191888-CAT-GTC |
c.343_345delinsGAC |
p.M115D |
Missense |
3/10 |
- |
1 |
7-44191888-C-G |
c.345G>C |
p.M115I |
Missense |
3/10 |
- |
2 |
7-44191888-C-T |
c.345G>A |
p.M115I |
Missense |
3/10 |
- |
2 |
7-44191888-C-CA |
c.344dup |
p.M115Ifs*6 |
Frameshift |
3/10 |
- |
1 |
7-44191889-A-C |
c.344T>G |
p.M115R |
Missense |
3/10 |
- |
1 |
7-44191889-A-G |
c.344T>C |
p.M115T |
Missense |
3/10 |
- |
3 |
7-44191889-A-T |
c.344T>A |
p.M115K |
Missense |
3/10 |
- |
3 |
7-44191889-AT-CA |
c.343_344delinsTG |
p.M115W |
Missense |
3/10 |
- |
1 |
7-44191889-AT-CC |
c.343_344delinsGG |
p.M115G |
Missense |
3/10 |
- |
1 |
7-44191889-AT-GC |
c.343_344delinsGC |
p.M115A |
Missense |
3/10 |
- |
1 |
7-44191889-AT-GG |
c.343_344delinsCC |
p.M115P |
Missense |
3/10 |
- |
1 |
7-44191889-AT-TC |
c.343_344delinsGA |
p.M115E |
Missense |
3/10 |
- |
1 |
7-44191889-AT-TG |
c.343_344delinsCA |
p.M115Q |
Missense |
3/10 |
- |
1 |
7-44191890-T-A |
c.343A>T |
p.M115L |
Missense |
3/10 |
- |
1 |
7-44191890-T-C |
c.343A>G |
p.M115V |
Missense |
3/10 |
- |
4 |
7-44191890-T-G |
c.343A>C |
p.M115L |
Missense |
3/10 |
- |
1 |
7-44191891-GGC-CAT |
c.340_342delinsATG |
p.A114M |
Missense |
3/10 |
- |
1 |
7-44191891-GGC-CCA |
c.340_342delinsTGG |
p.A114W |
Missense |
3/10 |
- |
1 |
7-44191891-GGC-CTT |
c.340_342delinsAAG |
p.A114K |
Missense |
3/10 |
- |
1 |
7-44191891-GG-CT |
c.341_342delinsAG |
p.A114E |
Missense |
3/10 |
- |
1 |
7-44191891-GGC-TTG |
c.340_342delinsCAA |
p.A114Q |
Missense |
3/10 |
- |
1 |
7-44191892-G-A |
c.341C>T |
p.A114V |
Missense |
3/10 |
- |
1 |
7-44191892-G-C |
c.341C>G |
p.A114G |
Missense |
3/10 |
- |
1 |
7-44191892-GC-AA |
c.340_341delinsTT |
p.A114F |
Missense |
3/10 |
- |
1 |
7-44191892-GC-AG |
c.340_341delinsCT |
p.A114L |
Missense |
3/10 |
- |
1 |
7-44191892-GC-AT |
c.340_341delinsAT |
p.A114I |
Missense |
3/10 |
- |
1 |
7-44191892-GC-CA |
c.340_341delinsTG |
p.A114C |
Missense |
3/10 |
- |
1 |
7-44191892-GC-CG |
c.340_341delinsCG |
p.A114R |
Missense |
3/10 |
- |
1 |
7-44191892-GC-TA |
c.340_341delinsTA |
p.A114Y |
Missense |
3/10 |
- |
1 |
7-44191892-GC-TG |
c.340_341delinsCA |
p.A114H |
Missense |
3/10 |
- |
1 |
7-44191892-GC-TT |
c.340_341delinsAA |
p.A114N |
Missense |
3/10 |
- |
1 |
7-44191892-G-T |
c.341C>A |
p.A114D |
Missense |
3/10 |
- |
1 |
7-44191893-C-A |
c.340G>T |
p.A114S |
Missense |
3/10 |
- |
1 |
7-44191893-C-G |
c.340G>C |
p.A114P |
Missense |
3/10 |
- |
1 |
7-44191893-C-T |
c.340G>A |
p.A114T |
Missense |
3/10 |
- |
3 |
7-44191894-G-A |
c.339C>T |
p.D113= |
Synonymous |
3/10 |
- |
3 |
7-44191894-G-C |
c.339C>G |
p.D113E |
Missense |
3/10 |
- |
1 |
7-44191894-G-T |
c.339C>A |
p.D113E |
Missense |
3/10 |
- |
1 |
7-44191894-GTC-CAT |
c.337_339delinsATG |
p.D113M |
Missense |
3/10 |
- |
1 |
7-44191894-GTC-CCA |
c.337_339delinsTGG |
p.D113W |
Missense |
3/10 |
- |
1 |
7-44191894-GTC-CTT |
c.337_339delinsAAG |
p.D113K |
Missense |
3/10 |
- |
1 |
7-44191894-GTC-TTG |
c.337_339delinsCAA |
p.D113Q |
Missense |
3/10 |
- |
1 |
7-44191895-T-A |
c.338A>T |
p.D113V |
Missense |
3/10 |
- |
1 |
7-44191895-T-C |
c.338A>G |
p.D113G |
Missense |
3/10 |
- |
1 |
7-44191895-TC-AA |
c.337_338delinsTT |
p.D113F |
Missense |
3/10 |
- |
1 |
7-44191895-TC-AG |
c.337_338delinsCT |
p.D113L |
Missense |
3/10 |
- |
1 |
7-44191895-TC-AT |
c.337_338delinsAT |
p.D113I |
Missense |
3/10 |
- |
1 |
7-44191895-TC-CA |
c.337_338delinsTG |
p.D113C |
Missense |
3/10 |
- |
1 |
7-44191895-TC-CG |
c.337_338delinsCG |
p.D113R |
Missense |
3/10 |
- |
1 |
7-44191895-TC-CT |
c.337_338delinsAG |
p.D113S |
Missense |
3/10 |
- |
1 |
7-44191895-TC-GG |
c.337_338delinsCC |
p.D113P |
Missense |
3/10 |
- |
1 |
7-44191895-TC-GT |
c.337_338delinsAC |
p.D113T |
Missense |
3/10 |
- |
1 |
7-44191895-T-G |
c.338A>C |
p.D113A |
Missense |
3/10 |
- |
1 |
7-44191896-C-A |
c.337G>T |
p.D113Y |
Missense |
3/10 |
- |
1 |
7-44191896-C-G |
c.337G>C |
p.D113H |
Missense |
3/10 |
- |
1 |
7-44191896-C-T |
c.337G>A |
p.D113N |
Missense |
3/10 |
- |
1 |
7-44191897-C-A |
c.336G>T |
p.E112D |
Missense |
3/10 |
- |
1 |
7-44191897-C-G |
c.336G>C |
p.E112D |
Missense |
3/10 |
- |
1 |
7-44191897-CTC-AAA |
c.334_336delinsTTT |
p.E112F |
Missense |
3/10 |
- |
1 |
7-44191897-CTC-ACA |
c.334_336delinsTGT |
p.E112C |
Missense |
3/10 |
- |
1 |
7-44191897-CTC-ATA |
c.334_336delinsTAT |
p.E112Y |
Missense |
3/10 |
- |
1 |
7-44191897-CTC-ATG |
c.334_336delinsCAT |
p.E112H |
Missense |
3/10 |
- |
1 |
7-44191897-CTC-GAT |
c.334_336delinsATC |
p.E112I |
Missense |
3/10 |
- |
1 |
7-44191897-CTC-GTT |
c.334_336delinsAAC |
p.E112N |
Missense |
3/10 |
- |
1 |
7-44191898-CT-C |
c.335del |
p.E112Gfs*4 |
Frameshift |
3/10 |
- |
1 |
7-44191898-T-A |
c.335A>T |
p.E112V |
Missense |
3/10 |
- |
1 |
7-44191898-T-C |
c.335A>G |
p.E112G |
Missense |
3/10 |
- |
1 |
7-44191898-TC-AG |
c.334_335delinsCT |
p.E112L |
Missense |
3/10 |
- |
1 |
7-44191898-TC-AT |
c.334_335delinsAT |
p.E112M |
Missense |
3/10 |
- |
1 |
7-44191898-TC-CA |
c.334_335delinsTG |
p.E112W |
Missense |
3/10 |
- |
1 |
7-44191898-TC-CT |
c.334_335delinsAG |
p.E112R |
Missense |
3/10 |
- |
1 |
7-44191898-TC-GA |
c.334_335inv |
p.E112S |
Missense |
3/10 |
- |
1 |
7-44191898-TC-GG |
c.334_335delinsCC |
p.E112P |
Missense |
3/10 |
- |
1 |
7-44191898-TC-GT |
c.334_335delinsAC |
p.E112T |
Missense |
3/10 |
- |
1 |
7-44191898-T-G |
c.335A>C |
p.E112A |
Missense |
3/10 |
- |
1 |
7-44191899-C-G |
c.334G>C |
p.E112Q |
Missense |
3/10 |
- |
1 |
7-44191899-C-T |
c.334G>A |
p.E112K |
Missense |
3/10 |
- |
4 |
7-44191900-G-A |
c.333C>T |
p.P111= |
Synonymous |
3/10 |
- |
2 |
7-44191900-GGG-CAT |
c.331_333delinsATG |
p.P111M |
Missense |
3/10 |
- |
1 |
7-44191900-GGG-CCA |
c.331_333delinsTGG |
p.P111W |
Missense |
3/10 |
- |
1 |
7-44191900-GGG-CTC |
c.331_333delinsGAG |
p.P111E |
Missense |
3/10 |
- |
1 |
7-44191900-GGG-CTT |
c.331_333delinsAAG |
p.P111K |
Missense |
3/10 |
- |
1 |
7-44191900-GG-TT |
c.332_333delinsAA |
p.P111Q |
Missense |
3/10 |
- |
1 |
7-44191901-G-A |
c.332C>T |
p.P111L |
Missense |
3/10 |
- |
5 |
7-44191901-G-C |
c.332C>G |
p.P111R |
Missense |
3/10 |
- |
1 |
7-44191901-GG-AA |
c.331_332delinsTT |
p.P111F |
Missense |
3/10 |
- |
1 |
7-44191901-GG-AC |
c.331_332delinsGT |
p.P111V |
Missense |
3/10 |
- |
1 |
7-44191901-GG-AT |
c.331_332delinsAT |
p.P111I |
Missense |
3/10 |
- |
1 |
7-44191901-GG-CA |
c.331_332delinsTG |
p.P111C |
Missense |
3/10 |
- |
1 |
7-44191901-GG-CC |
c.331_332inv |
p.P111G |
Missense |
3/10 |
- |
1 |
7-44191901-GG-TA |
c.331_332delinsTA |
p.P111Y |
Missense |
3/10 |
- |
1 |
7-44191901-GG-TC |
c.331_332delinsGA |
p.P111D |
Missense |
3/10 |
- |
1 |
7-44191901-GG-TT |
c.331_332delinsAA |
p.P111N |
Missense |
3/10 |
- |
1 |
7-44191901-G-T |
c.332C>A |
p.P111H |
Missense |
3/10 |
- |
1 |
7-44191899-CGGGGATGGAGTACATCT-C |
c.317_333del |
p.Q106Rfs*9 |
Frameshift |
3/10 |
- |
2 |
7-44191902-G-A |
c.331C>T |
p.P111S |
Missense |
3/10 |
- |
1 |
7-44191902-G-C |
c.331C>G |
p.P111A |
Missense |
3/10 |
- |
1 |
7-44191902-G-T |
c.331C>A |
p.P111T |
Missense |
3/10 |
- |
1 |
7-44191903-G-A |
c.330C>T |
p.I110= |
Synonymous |
3/10 |
- |
1 |
7-44191903-GA-CC |
c.329_330delinsGG |
p.I110R |
Missense |
3/10 |
- |
1 |
7-44191903-GA-CT |
c.329_330delinsAG |
p.I110K |
Missense |
3/10 |
- |
1 |
7-44191903-GAT-CCA |
c.328_330delinsTGG |
p.I110W |
Missense |
3/10 |
- |
1 |
7-44191903-GAT-CTC |
c.328_330delinsGAG |
p.I110E |
Missense |
3/10 |
- |
1 |
7-44191903-GAT-TTG |
c.328_330delinsCAA |
p.I110Q |
Missense |
3/10 |
- |
1 |
7-44191903-G-C |
c.330C>G |
p.I110M |
Missense |
3/10 |
- |
1 |
7-44191904-A-C |
c.329T>G |
p.I110S |
Missense |
3/10 |
- |
1 |
7-44191904-A-G |
c.329T>C |
p.I110T |
Missense |
3/10 |
- |
7 |
7-44191904-A-T |
c.329T>A |
p.I110N |
Missense |
3/10 |
- |
3 |
7-44191904-AT-CA |
c.328_329delinsTG |
p.I110C |
Missense |
3/10 |
- |
1 |
7-44191904-AT-CC |
c.328_329delinsGG |
p.I110G |
Missense |
3/10 |
- |
1 |
7-44191904-AT-GC |
c.328_329delinsGC |
p.I110A |
Missense |
3/10 |
- |
1 |
7-44191904-AT-GG |
c.328_329delinsCC |
p.I110P |
Missense |
3/10 |
- |
1 |
7-44191904-AT-TA |
c.328_329delinsTA |
p.I110Y |
Missense |
3/10 |
- |
1 |
7-44191904-AT-TC |
c.328_329delinsGA |
p.I110D |
Missense |
3/10 |
- |
1 |
7-44191904-AT-TG |
c.328_329delinsCA |
p.I110H |
Missense |
3/10 |
- |
1 |
7-44191905-T-A |
c.328A>T |
p.I110F |
Missense |
3/10 |
- |
1 |
7-44191905-T-C |
c.328A>G |
p.I110V |
Missense |
3/10 |
- |
1 |
7-44191905-T-G |
c.328A>C |
p.I110L |
Missense |
3/10 |
- |
1 |
7-44191906-GGA-CAT |
c.325_327delinsATG |
p.S109M |
Missense |
3/10 |
- |
1 |
7-44191906-GGA-CTC |
c.325_327delinsGAG |
p.S109E |
Missense |
3/10 |
- |
1 |
7-44191906-GGA-CTT |
c.325_327delinsAAG |
p.S109K |
Missense |
3/10 |
- |
1 |
7-44191906-GGA-TTG |
c.325_327delinsCAA |
p.S109Q |
Missense |
3/10 |
- |
1 |
7-44191906-GG-CC |
c.326_327inv |
p.S109W |
Missense |
3/10 |
- |
1 |
7-44191907-G-A |
c.326C>T |
p.S109F |
Missense |
3/10 |
- |
1 |
7-44191907-GA-AC |
c.325_326delinsGT |
p.S109V |
Missense |
3/10 |
- |
1 |
7-44191907-GA-AG |
c.325_326delinsCT |
p.S109L |
Missense |
3/10 |
- |
1 |
7-44191907-GA-AT |
c.325_326delinsAT |
p.S109I |
Missense |
3/10 |
- |
1 |
7-44191907-GA-CC |
c.325_326delinsGG |
p.S109G |
Missense |
3/10 |
- |
1 |
7-44191907-GA-CG |
c.325_326delinsCG |
p.S109R |
Missense |
3/10 |
- |
1 |
7-44191907-GA-TC |
c.325_326inv |
p.S109D |
Missense |
3/10 |
- |
1 |
7-44191907-GA-TG |
c.325_326delinsCA |
p.S109H |
Missense |
3/10 |
- |
1 |
7-44191907-GA-TT |
c.325_326delinsAA |
p.S109N |
Missense |
3/10 |
- |
1 |
7-44191907-G-C |
c.326C>G |
p.S109C |
Missense |
3/10 |
- |
1 |
7-44191907-G-T |
c.326C>A |
p.S109Y |
Missense |
3/10 |
- |
1 |
7-44191908-A-C |
c.325T>G |
p.S109A |
Missense |
3/10 |
- |
1 |
7-44191908-A-G |
c.325T>C |
p.S109P |
Missense |
3/10 |
- |
2 |
7-44191908-A-T |
c.325T>A |
p.S109T |
Missense |
3/10 |
- |
1 |
7-44191909-G-A |
c.324C>T |
p.Y108= |
Synonymous |
3/10 |
- |
1 |
7-44191909-G-C |
c.324C>G |
p.Y108* |
Nonsense |
3/10 |
- |
1 |
7-44191909-G-T |
c.324C>A |
p.Y108* |
Nonsense |
3/10 |
- |
2 |
7-44191909-GTA-CAT |
c.322_324delinsATG |
p.Y108M |
Missense |
3/10 |
- |
1 |
7-44191909-GTA-CTC |
c.322_324delinsGAG |
p.Y108E |
Missense |
3/10 |
- |
1 |
7-44191909-GTA-CTT |
c.322_324delinsAAG |
p.Y108K |
Missense |
3/10 |
- |
1 |
7-44191909-GTA-TTG |
c.322_324delinsCAA |
p.Y108Q |
Missense |
3/10 |
- |
1 |
7-44191909-GT-CC |
c.323_324delinsGG |
p.Y108W |
Missense |
3/10 |
- |
1 |
7-44191910-T-A |
c.323A>T |
p.Y108F |
Missense |
3/10 |
- |
1 |
7-44191910-TA-AC |
c.322_323delinsGT |
p.Y108V |
Missense |
3/10 |
- |
1 |
7-44191910-TA-AG |
c.322_323delinsCT |
p.Y108L |
Missense |
3/10 |
- |
1 |
7-44191910-TA-AT |
c.322_323delinsAT |
p.Y108I |
Missense |
3/10 |
- |
1 |
7-44191910-TA-CC |
c.322_323delinsGG |
p.Y108G |
Missense |
3/10 |
- |
1 |
7-44191910-TA-CG |
c.322_323delinsCG |
p.Y108R |
Missense |
3/10 |
- |
1 |
7-44191910-TA-GC |
c.322_323delinsGC |
p.Y108A |
Missense |
3/10 |
- |
1 |
7-44191910-TA-GG |
c.322_323delinsCC |
p.Y108P |
Missense |
3/10 |
- |
1 |
7-44191910-TA-GT |
c.322_323delinsAC |
p.Y108T |
Missense |
3/10 |
- |
1 |
7-44191910-T-C |
c.323A>G |
p.Y108C |
Missense |
3/10 |
- |
4 |
7-44191910-T-G |
c.323A>C |
p.Y108S |
Missense |
3/10 |
- |
1 |
7-44191911-A-C |
c.322T>G |
p.Y108D |
Missense |
3/10 |
- |
4 |
7-44191911-A-G |
c.322T>C |
p.Y108H |
Missense |
3/10 |
- |
7 |
7-44191911-A-T |
c.322T>A |
p.Y108N |
Missense |
3/10 |
- |
2 |
7-44191912-C-A |
c.321G>T |
p.M107I |
Missense |
3/10 |
- |
1 |
7-44191912-CA-GC |
c.320_321delinsGC |
p.M107S |
Missense |
3/10 |
- |
1 |
7-44191912-CA-GT |
c.320_321delinsAC |
p.M107N |
Missense |
3/10 |
- |
1 |
7-44191912-CAT-AAA |
c.319_321delinsTTT |
p.M107F |
Missense |
3/10 |
- |
1 |
7-44191912-CAT-ACA |
c.319_321delinsTGT |
p.M107C |
Missense |
3/10 |
- |
1 |
7-44191912-CAT-ATA |
c.319_321delinsTAT |
p.M107Y |
Missense |
3/10 |
- |
1 |
7-44191912-CAT-ATG |
c.319_321inv |
p.M107H |
Missense |
3/10 |
- |
1 |
7-44191912-CAT-GTC |
c.319_321delinsGAC |
p.M107D |
Missense |
3/10 |
- |
1 |
7-44191912-C-G |
c.321G>C |
p.M107I |
Missense |
3/10 |
- |
1 |
7-44191912-C-T |
c.321G>A |
p.M107I |
Missense |
3/10 |
- |
3 |
7-44191913-A-C |
c.320T>G |
p.M107R |
Missense |
3/10 |
- |
1 |
7-44191913-A-G |
c.320T>C |
p.M107T |
Missense |
3/10 |
- |
3 |
7-44191913-A-T |
c.320T>A |
p.M107K |
Missense |
3/10 |
- |
1 |
7-44191913-AT-CA |
c.319_320delinsTG |
p.M107W |
Missense |
3/10 |
- |
1 |
7-44191913-AT-CC |
c.319_320delinsGG |
p.M107G |
Missense |
3/10 |
- |
1 |
7-44191913-AT-GC |
c.319_320delinsGC |
p.M107A |
Missense |
3/10 |
- |
1 |
7-44191913-AT-GG |
c.319_320delinsCC |
p.M107P |
Missense |
3/10 |
- |
1 |
7-44191913-AT-TC |
c.319_320delinsGA |
p.M107E |
Missense |
3/10 |
- |
1 |
7-44191913-AT-TG |
c.319_320delinsCA |
p.M107Q |
Missense |
3/10 |
- |
1 |
7-44191914-ATCT-A |
c.317_319del |
p.Q106_M107delinsL |
MultiAAMissense |
3/10 |
- |
1 |
7-44191914-T-A |
c.319A>T |
p.M107L |
Missense |
3/10 |
- |
1 |
7-44191914-T-C |
c.319A>G |
p.M107V |
Missense |
3/10 |
- |
1 |
7-44191914-T-G |
c.319A>C |
p.M107L |
Missense |
3/10 |
- |
1 |
7-44191915-C-A |
c.318G>T |
p.Q106H |
Missense |
3/10 |
- |
1 |
7-44191915-C-G |
c.318G>C |
p.Q106H |
Missense |
3/10 |
- |
1 |
7-44191915-C-T |
c.318G>A |
p.Q106= |
Synonymous |
3/10 |
- |
1 |
7-44191915-CTG-AAA |
c.316_318delinsTTT |
p.Q106F |
Missense |
3/10 |
- |
1 |
7-44191915-CTG-ACA |
c.316_318delinsTGT |
p.Q106C |
Missense |
3/10 |
- |
1 |
7-44191915-CTG-ATA |
c.316_318delinsTAT |
p.Q106Y |
Missense |
3/10 |
- |
1 |
7-44191915-CTG-GAT |
c.316_318delinsATC |
p.Q106I |
Missense |
3/10 |
- |
1 |
7-44191915-CTG-GTC |
c.316_318delinsGAC |
p.Q106D |
Missense |
3/10 |
- |
1 |
7-44191915-CTG-GTT |
c.316_318delinsAAC |
p.Q106N |
Missense |
3/10 |
- |
1 |
7-44191916-T-A |
c.317A>T |
p.Q106L |
Missense |
3/10 |
- |
1 |
7-44191916-T-C |
c.317A>G |
p.Q106R |
Missense |
3/10 |
- |
2 |
7-44191916-T-G |
c.317A>C |
p.Q106P |
Missense |
3/10 |
- |
2 |
7-44191916-TG-AC |
c.316_317delinsGT |
p.Q106V |
Missense |
3/10 |
- |
1 |
7-44191916-TG-AT |
c.316_317delinsAT |
p.Q106M |
Missense |
3/10 |
- |
1 |
7-44191916-TG-CA |
c.316_317inv |
p.Q106W |
Missense |
3/10 |
- |
1 |
7-44191916-TG-CC |
c.316_317delinsGG |
p.Q106G |
Missense |
3/10 |
- |
1 |
7-44191916-TG-GA |
c.316_317delinsTC |
p.Q106S |
Missense |
3/10 |
- |
1 |
7-44191916-TG-GC |
c.316_317delinsGC |
p.Q106A |
Missense |
3/10 |
- |
1 |
7-44191916-TG-GT |
c.316_317delinsAC |
p.Q106T |
Missense |
3/10 |
- |
1 |
7-44191917-G-A |
c.316C>T |
p.Q106* |
Nonsense |
3/10 |
- |
7 |
7-44191917-G-C |
c.316C>G |
p.Q106E |
Missense |
3/10 |
- |
1 |
7-44191917-G-T |
c.316C>A |
p.Q106K |
Missense |
3/10 |
- |
1 |
7-44191918-G-C |
c.315C>G |
p.H105Q |
Missense |
3/10 |
- |
2 |
7-44191918-G-T |
c.315C>A |
p.H105Q |
Missense |
3/10 |
- |
2 |
7-44191918-GTG-CAT |
c.313_315delinsATG |
p.H105M |
Missense |
3/10 |
- |
1 |
7-44191918-GTG-CCA |
c.313_315delinsTGG |
p.H105W |
Missense |
3/10 |
- |
1 |
7-44191918-GTG-CTC |
c.313_315delinsGAG |
p.H105E |
Missense |
3/10 |
- |
1 |
7-44191918-GTG-CTT |
c.313_315delinsAAG |
p.H105K |
Missense |
3/10 |
- |
1 |
7-44191919-T-A |
c.314A>T |
p.H105L |
Missense |
3/10 |
- |
1 |
7-44191919-T-C |
c.314A>G |
p.H105R |
Missense |
3/10 |
- |
3 |
7-44191919-T-G |
c.314A>C |
p.H105P |
Missense |
3/10 |
- |
1 |
7-44191919-TG-AA |
c.313_314delinsTT |
p.H105F |
Missense |
3/10 |
- |
1 |
7-44191919-TG-AC |
c.313_314delinsGT |
p.H105V |
Missense |
3/10 |
- |
1 |
7-44191919-TG-AT |
c.313_314delinsAT |
p.H105I |
Missense |
3/10 |
- |
1 |
7-44191919-TG-CA |
c.313_314inv |
p.H105C |
Missense |
3/10 |
- |
1 |
7-44191919-TG-CC |
c.313_314delinsGG |
p.H105G |
Missense |
3/10 |
- |
1 |
7-44191919-TG-CT |
c.313_314delinsAG |
p.H105S |
Missense |
3/10 |
- |
1 |
7-44191919-TG-GC |
c.313_314delinsGC |
p.H105A |
Missense |
3/10 |
- |
1 |
7-44191919-TG-GT |
c.313_314delinsAC |
p.H105T |
Missense |
3/10 |
- |
1 |
7-44191920-G-A |
c.313C>T |
p.H105Y |
Missense |
3/10 |
- |
1 |
7-44191920-G-C |
c.313C>G |
p.H105D |
Missense |
3/10 |
- |
1 |
7-44191920-G-GGTTTGGTCTCC |
c.312_313insGGAGACCAAAC |
p.H105Gfs*15 |
Frameshift |
3/10 |
- |
1 |
7-44191920-G-T |
c.313C>A |
p.H105N |
Missense |
3/10 |
- |
1 |
7-44191920-TG-T |
c.313del |
p.H105Tfs*11 |
Frameshift |
3/10 |
- |
2 |
7-44191921-T-A |
c.312A>T |
p.K104N |
Missense |
3/10 |
- |
1 |
7-44191921-T-G |
c.312A>C |
p.K104N |
Missense |
3/10 |
- |
1 |
7-44191921-TT-CA |
c.311_312delinsTG |
p.K104M |
Missense |
3/10 |
- |
1 |
7-44191921-TT-GC |
c.311_312delinsGC |
p.K104S |
Missense |
3/10 |
- |
1 |
7-44191921-TTT-AAA |
c.310_312inv |
p.K104F |
Missense |
3/10 |
- |
1 |
7-44191921-TTT-ACA |
c.310_312delinsTGT |
p.K104C |
Missense |
3/10 |
- |
1 |
7-44191921-TTT-ATA |
c.310_312delinsTAT |
p.K104Y |
Missense |
3/10 |
- |
1 |
7-44191921-TTT-ATG |
c.310_312delinsCAT |
p.K104H |
Missense |
3/10 |
- |
1 |
7-44191921-TTT-CCA |
c.310_312delinsTGG |
p.K104W |
Missense |
3/10 |
- |
1 |
7-44191921-TTT-GTC |
c.310_312delinsGAC |
p.K104D |
Missense |
3/10 |
- |
1 |
7-44191922-T-A |
c.311A>T |
p.K104I |
Missense |
3/10 |
- |
1 |
7-44191922-T-C |
c.311A>G |
p.K104R |
Missense |
3/10 |
- |
2 |
7-44191922-T-G |
c.311A>C |
p.K104T |
Missense |
3/10 |
- |
1 |
7-44191922-TT-AC |
c.310_311delinsGT |
p.K104V |
Missense |
3/10 |
- |
1 |
7-44191922-TT-AG |
c.310_311delinsCT |
p.K104L |
Missense |
3/10 |
- |
1 |
7-44191922-TT-CC |
c.310_311delinsGG |
p.K104G |
Missense |
3/10 |
- |
1 |
7-44191922-TT-GC |
c.310_311delinsGC |
p.K104A |
Missense |
3/10 |
- |
1 |
7-44191922-TT-GG |
c.310_311delinsCC |
p.K104P |
Missense |
3/10 |
- |
1 |
7-44191923-T-C |
c.310A>G |
p.K104E |
Missense |
3/10 |
- |
2 |
7-44191923-T-G |
c.310A>C |
p.K104Q |
Missense |
3/10 |
- |
1 |
7-44191923-T-TA |
c.309_310insT |
p.K104* |
Nonsense |
3/10 |
- |
1 |
7-44191924-GG-CA |
c.308_309delinsTG |
p.T103M |
Missense |
3/10 |
- |
1 |
7-44191924-GG-CC |
c.308_309inv |
p.T103R |
Missense |
3/10 |
- |
1 |
7-44191924-GG-CT |
c.308_309delinsAG |
p.T103K |
Missense |
3/10 |
- |
3 |
7-44191924-GGT-CCA |
c.307_309delinsTGG |
p.T103W |
Missense |
3/10 |
- |
1 |
7-44191924-GGT-CTC |
c.307_309delinsGAG |
p.T103E |
Missense |
3/10 |
- |
1 |
7-44191924-GGT-TTG |
c.307_309delinsCAA |
p.T103Q |
Missense |
3/10 |
- |
1 |
7-44191925-G-A |
c.308C>T |
p.T103I |
Missense |
3/10 |
- |
2 |
7-44191925-G-C |
c.308C>G |
p.T103S |
Missense |
3/10 |
- |
5 |
7-44191925-G-T |
c.308C>A |
p.T103N |
Missense |
3/10 |
- |
2 |
7-44191925-GT-AA |
c.307_308delinsTT |
p.T103F |
Missense |
3/10 |
- |
1 |
7-44191925-GT-AC |
c.307_308inv |
p.T103V |
Missense |
3/10 |
- |
1 |
7-44191925-GT-AG |
c.307_308delinsCT |
p.T103L |
Missense |
3/10 |
- |
1 |
7-44191925-GT-CA |
c.307_308delinsTG |
p.T103C |
Missense |
3/10 |
- |
3 |
7-44191925-GT-CC |
c.307_308delinsGG |
p.T103G |
Missense |
3/10 |
- |
1 |
7-44191925-GT-TA |
c.307_308delinsTA |
p.T103Y |
Missense |
3/10 |
- |
3 |
7-44191925-GT-TC |
c.307_308delinsGA |
p.T103D |
Missense |
3/10 |
- |
1 |
7-44191925-GT-TG |
c.307_308delinsCA |
p.T103H |
Missense |
3/10 |
- |
1 |
7-44191926-T-A |
c.307A>T |
p.T103S |
Missense |
3/10 |
- |
2 |
7-44191926-T-C |
c.307A>G |
p.T103A |
Missense |
3/10 |
- |
3 |
7-44191926-T-G |
c.307A>C |
p.T103P |
Missense |
3/10 |
- |
3 |
7-44191927-C-A |
c.306G>T |
p.K102N |
Missense |
3/10 |
- |
1 |
7-44191927-C-G |
c.306G>C |
p.K102N |
Missense |
3/10 |
- |
1 |
7-44191927-C-T |
c.306G>A |
p.K102= |
Synonymous |
3/10 |
- |
1 |
7-44191927-CT-GA |
c.305_306delinsTC |
p.K102I |
Missense |
3/10 |
- |
1 |
7-44191927-CT-GC |
c.305_306delinsGC |
p.K102S |
Missense |
3/10 |
- |
1 |
7-44191927-CTT-AAA |
c.304_306delinsTTT |
p.K102F |
Missense |
3/10 |
- |
1 |
7-44191927-CTT-ACA |
c.304_306delinsTGT |
p.K102C |
Missense |
3/10 |
- |
1 |
7-44191927-CTT-ATA |
c.304_306delinsTAT |
p.K102Y |
Missense |
3/10 |
- |
1 |
7-44191927-CTT-ATG |
c.304_306delinsCAT |
p.K102H |
Missense |
3/10 |
- |
1 |
7-44191927-CTT-GTC |
c.304_306delinsGAC |
p.K102D |
Missense |
3/10 |
- |
1 |
7-44191919-T-TGTTTGGTCTCC |
c.313_314insGGAGACCAAAC |
p.H105Rfs*15 |
Frameshift |
3/10 |
- |
1 |
7-44191928-T-A |
c.305A>T |
p.K102M |
Missense |
3/10 |
- |
1 |
7-44191928-T-C |
c.305A>G |
p.K102R |
Missense |
3/10 |
- |
1 |
7-44191928-T-G |
c.305A>C |
p.K102T |
Missense |
3/10 |
- |
1 |
7-44191928-TT-AC |
c.304_305delinsGT |
p.K102V |
Missense |
3/10 |
- |
1 |
7-44191928-TT-AG |
c.304_305delinsCT |
p.K102L |
Missense |
3/10 |
- |
1 |
7-44191928-TT-CA |
c.304_305delinsTG |
p.K102W |
Missense |
3/10 |
- |
1 |
7-44191928-TT-CC |
c.304_305delinsGG |
p.K102G |
Missense |
3/10 |
- |
1 |
7-44191928-TT-GC |
c.304_305delinsGC |
p.K102A |
Missense |
3/10 |
- |
1 |
7-44191928-TT-GG |
c.304_305delinsCC |
p.K102P |
Missense |
3/10 |
- |
1 |
7-44191929-T-A |
c.304A>T |
p.K102* |
Nonsense |
3/10 |
- |
1 |
7-44191929-T-C |
c.304A>G |
p.K102E |
Missense |
3/10 |
- |
1 |
7-44191929-T-G |
c.304A>C |
p.K102Q |
Missense |
3/10 |
- |
1 |
7-44191930-CAC-AAA |
c.301_303delinsTTT |
p.V101F |
Missense |
3/10 |
- |
1 |
7-44191930-CAC-ACA |
c.301_303delinsTGT |
p.V101C |
Missense |
3/10 |
- |
1 |
7-44191930-CAC-ATA |
c.301_303delinsTAT |
p.V101Y |
Missense |
3/10 |
- |
1 |
7-44191930-CAC-ATG |
c.301_303delinsCAT |
p.V101H |
Missense |
3/10 |
- |
1 |
7-44191930-CAC-GAT |
c.301_303delinsATC |
p.V101I |
Missense |
3/10 |
- |
1 |
7-44191930-CAC-GTT |
c.301_303delinsAAC |
p.V101N |
Missense |
3/10 |
- |
1 |
7-44191930-CA-GT |
c.302_303delinsAC |
p.V101D |
Missense |
3/10 |
- |
1 |
7-44191931-A-C |
c.302T>G |
p.V101G |
Missense |
3/10 |
- |
1 |
7-44191931-AC-CA |
c.301_302delinsTG |
p.V101W |
Missense |
3/10 |
- |
1 |
7-44191931-AC-CT |
c.301_302delinsAG |
p.V101R |
Missense |
3/10 |
- |
1 |
7-44191931-AC-GA |
c.301_302delinsTC |
p.V101S |
Missense |
3/10 |
- |
1 |
7-44191931-AC-GG |
c.301_302delinsCC |
p.V101P |
Missense |
3/10 |
- |
1 |
7-44191931-AC-GT |
c.301_302inv |
p.V101T |
Missense |
3/10 |
- |
1 |
7-44191931-AC-TG |
c.301_302delinsCA |
p.V101Q |
Missense |
3/10 |
- |
1 |
7-44191931-AC-TT |
c.301_302delinsAA |
p.V101K |
Missense |
3/10 |
- |
1 |
7-44191931-A-G |
c.302T>C |
p.V101A |
Missense |
3/10 |
- |
1 |
7-44191931-A-T |
c.302T>A |
p.V101E |
Missense |
3/10 |
- |
1 |
7-44191932-AC-A |
c.301del |
p.V101* |
Frameshift |
3/10 |
- |
1 |
7-44191932-C-A |
c.301G>T |
p.V101L |
Missense |
3/10 |
- |
1 |
7-44191932-C-G |
c.301G>C |
p.V101L |
Missense |
3/10 |
- |
1 |
7-44191932-C-T |
c.301G>A |
p.V101M |
Missense |
3/10 |
- |
8 |
7-44191933-G-A |
c.300C>T |
p.S100= |
Synonymous |
3/10 |
- |
4 |
7-44191933-G-C |
c.300C>G |
p.S100R |
Missense |
3/10 |
- |
1 |
7-44191933-GC-CA |
c.299_300delinsTG |
p.S100M |
Missense |
3/10 |
- |
1 |
7-44191933-GC-CT |
c.299_300delinsAG |
p.S100K |
Missense |
3/10 |
- |
1 |
7-44191933-GCT-CCA |
c.298_300delinsTGG |
p.S100W |
Missense |
3/10 |
- |
1 |
7-44191933-GCT-CTC |
c.298_300delinsGAG |
p.S100E |
Missense |
3/10 |
- |
1 |
7-44191933-GCT-TTG |
c.298_300delinsCAA |
p.S100Q |
Missense |
3/10 |
- |
1 |
7-44191933-G-T |
c.300C>A |
p.S100R |
Missense |
3/10 |
- |
1 |
7-44191935-T-G |
c.298A>C |
p.S100R |
Missense |
3/10 |
- |
1 |
7-44191934-C-A |
c.299G>T |
p.S100I |
Missense |
3/10 |
- |
1 |
7-44191934-C-G |
c.299G>C |
p.S100T |
Missense |
3/10 |
- |
1 |
7-44191934-C-T |
c.299G>A |
p.S100N |
Missense |
3/10 |
- |
1 |
7-44191934-CT-AA |
c.298_299delinsTT |
p.S100F |
Missense |
3/10 |
- |
1 |
7-44191934-CT-AC |
c.298_299delinsGT |
p.S100V |
Missense |
3/10 |
- |
1 |
7-44191934-CT-AG |
c.298_299inv |
p.S100L |
Missense |
3/10 |
- |
1 |
7-44191934-CT-GC |
c.298_299delinsGC |
p.S100A |
Missense |
3/10 |
- |
2 |
7-44191934-CT-GG |
c.298_299delinsCC |
p.S100P |
Missense |
3/10 |
- |
2 |
7-44191934-CT-TA |
c.298_299delinsTA |
p.S100Y |
Missense |
3/10 |
- |
1 |
7-44191934-CT-TC |
c.298_299delinsGA |
p.S100D |
Missense |
3/10 |
- |
2 |
7-44191934-CT-TG |
c.298_299delinsCA |
p.S100H |
Missense |
3/10 |
- |
1 |
7-44191935-CT-C |
c.298del |
p.S100Afs*2 |
Frameshift |
3/10 |
- |
1 |
7-44191935-T-A |
c.298A>T |
p.S100C |
Missense |
3/10 |
- |
1 |
7-44191935-T-C |
c.298A>G |
p.S100G |
Missense |
3/10 |
- |
2 |
7-44191936-C-A |
c.297G>T |
p.W99C |
Missense |
3/10 |
- |
7 |
7-44191936-CC-AA |
c.296_297delinsTT |
p.W99F |
Missense |
3/10 |
- |
3 |
7-44191936-CCA-ATG |
c.295_297delinsCAT |
p.W99H |
Missense |
3/10 |
- |
1 |
7-44191936-CCA-GAT |
c.295_297delinsATC |
p.W99I |
Missense |
3/10 |
- |
1 |
7-44191936-CCA-GTC |
c.295_297delinsGAC |
p.W99D |
Missense |
3/10 |
- |
1 |
7-44191936-CCA-GTT |
c.295_297delinsAAC |
p.W99N |
Missense |
3/10 |
- |
1 |
7-44191936-CC-AT |
c.296_297delinsAT |
p.W99Y |
Missense |
3/10 |
- |
1 |
7-44191936-C-G |
c.297G>C |
p.W99C |
Missense |
3/10 |
- |
5 |
7-44191936-C-T |
c.297G>A |
p.W99* |
Nonsense |
3/10 |
- |
2 |
7-44191937-C-A |
c.296G>T |
p.W99L |
Missense |
3/10 |
- |
5 |
7-44191937-CA-AC |
c.295_296delinsGT |
p.W99V |
Missense |
3/10 |
- |
1 |
7-44191937-CA-AT |
c.295_296delinsAT |
p.W99M |
Missense |
3/10 |
- |
1 |
7-44191937-CA-GC |
c.295_296delinsGC |
p.W99A |
Missense |
3/10 |
- |
1 |
7-44191937-CA-GG |
c.295_296delinsCC |
p.W99P |
Missense |
3/10 |
- |
1 |
7-44191937-CA-GT |
c.295_296delinsAC |
p.W99T |
Missense |
3/10 |
- |
1 |
7-44191937-CA-TC |
c.295_296delinsGA |
p.W99E |
Missense |
3/10 |
- |
1 |
7-44191937-CA-TG |
c.295_296inv |
p.W99Q |
Missense |
3/10 |
- |
1 |
7-44191937-CA-TT |
c.295_296delinsAA |
p.W99K |
Missense |
3/10 |
- |
1 |
7-44191937-C-G |
c.296G>C |
p.W99S |
Missense |
3/10 |
- |
1 |
7-44191937-C-T |
c.296G>A |
p.W99* |
Nonsense |
3/10 |
- |
4 |
7-44191938-A-C |
c.295T>G |
p.W99G |
Missense |
3/10 |
- |
1 |
7-44191938-A-G |
c.295T>C |
p.W99R |
Missense |
3/10 |
- |
16 |
7-44191938-A-T |
c.295T>A |
p.W99R |
Missense |
3/10 |
- |
14 |
7-44191938-CA-C |
c.295del |
p.W99Gfs*3 |
Frameshift |
3/10 |
- |
2 |
7-44191941-G-A |
c.292C>T |
p.Q98* |
Nonsense |
3/10 |
- |
3 |
7-44191943-C-T |
c.290G>A |
p.G97E |
Missense |
3/10 |
- |
1 |
7-44191944-C-T |
c.289G>A |
p.G97R |
Missense |
3/10 |
- |
1 |
7-44191945-C-T |
c.288G>A |
p.E96= |
Synonymous |
3/10 |
- |
2 |
7-44191946-T-G |
c.287A>C |
p.E96A |
Missense |
3/10 |
- |
2 |
7-44191947-C-T |
c.286G>A |
p.E96K |
Missense |
3/10 |
- |
2 |
7-44191951-ACC-CAT |
c.280_282delinsATG |
p.G94M |
Missense |
3/10 |
- |
1 |
7-44191951-ACC-CCA |
c.280_282delinsTGG |
p.G94W |
Missense |
3/10 |
- |
1 |
7-44191951-ACC-CTT |
c.280_282delinsAAG |
p.G94K |
Missense |
3/10 |
- |
1 |
7-44191951-AC-CT |
c.281_282delinsAG |
p.G94E |
Missense |
3/10 |
- |
1 |
7-44191951-ACC-TTG |
c.280_282delinsCAA |
p.G94Q |
Missense |
3/10 |
- |
1 |
7-44191952-C-A |
c.281G>T |
p.G94V |
Missense |
3/10 |
- |
1 |
7-44191952-CC-AA |
c.280_281delinsTT |
p.G94F |
Missense |
3/10 |
- |
1 |
7-44191952-CC-AG |
c.280_281delinsCT |
p.G94L |
Missense |
3/10 |
- |
1 |
7-44191952-CC-AT |
c.280_281delinsAT |
p.G94I |
Missense |
3/10 |
- |
1 |
7-44191952-CC-GG |
c.280_281inv |
p.G94P |
Missense |
3/10 |
- |
1 |
7-44191952-CC-GT |
c.280_281delinsAC |
p.G94T |
Missense |
3/10 |
- |
1 |
7-44191952-CC-TA |
c.280_281delinsTA |
p.G94Y |
Missense |
3/10 |
- |
1 |
7-44191952-CC-TG |
c.280_281delinsCA |
p.G94H |
Missense |
3/10 |
- |
1 |
7-44191952-CC-TT |
c.280_281delinsAA |
p.G94N |
Missense |
3/10 |
- |
1 |
7-44191952-C-G |
c.281G>C |
p.G94A |
Missense |
3/10 |
- |
2 |
7-44191952-C-T |
c.281G>A |
p.G94D |
Missense |
3/10 |
- |
4 |
7-44191953-C-A |
c.280G>T |
p.G94C |
Missense |
3/10 |
- |
1 |
7-44191953-C-G |
c.280G>C |
p.G94R |
Missense |
3/10 |
- |
1 |
7-44191953-C-T |
c.280G>A |
p.G94S |
Missense |
3/10 |
- |
2 |
7-44191954-T-A |
c.279A>T |
p.E93D |
Missense |
3/10 |
- |
1 |
7-44191954-T-G |
c.279A>C |
p.E93D |
Missense |
3/10 |
- |
1 |
7-44191954-TTC-AAA |
c.277_279delinsTTT |
p.E93F |
Missense |
3/10 |
- |
1 |
7-44191954-TTC-ACA |
c.277_279delinsTGT |
p.E93C |
Missense |
3/10 |
- |
1 |
7-44191954-TTC-ATA |
c.277_279delinsTAT |
p.E93Y |
Missense |
3/10 |
- |
1 |
7-44191954-TTC-ATG |
c.277_279delinsCAT |
p.E93H |
Missense |
3/10 |
- |
1 |
7-44191954-TTC-CAT |
c.277_279delinsATG |
p.E93M |
Missense |
3/10 |
- |
1 |
7-44191954-TTC-CCA |
c.277_279delinsTGG |
p.E93W |
Missense |
3/10 |
- |
1 |
7-44191954-TTC-GTT |
c.277_279delinsAAC |
p.E93N |
Missense |
3/10 |
- |
1 |
7-44191955-T-A |
c.278A>T |
p.E93V |
Missense |
3/10 |
- |
1 |
7-44191955-T-C |
c.278A>G |
p.E93G |
Missense |
3/10 |
- |
1 |
7-44191955-TC-AG |
c.277_278delinsCT |
p.E93L |
Missense |
3/10 |
- |
1 |
7-44191955-TC-AT |
c.277_278delinsAT |
p.E93I |
Missense |
3/10 |
- |
1 |
7-44191955-TC-CT |
c.277_278delinsAG |
p.E93R |
Missense |
3/10 |
- |
1 |
7-44191955-TC-GA |
c.277_278inv |
p.E93S |
Missense |
3/10 |
- |
1 |
7-44191955-TC-GG |
c.277_278delinsCC |
p.E93P |
Missense |
3/10 |
- |
1 |
7-44191955-TC-GT |
c.277_278delinsAC |
p.E93T |
Missense |
3/10 |
- |
1 |
7-44191955-T-G |
c.278A>C |
p.E93A |
Missense |
3/10 |
- |
1 |
7-44191956-C-G |
c.277G>C |
p.E93Q |
Missense |
3/10 |
- |
1 |
7-44191956-C-T |
c.277G>A |
p.E93K |
Missense |
3/10 |
- |
1 |
7-44191957-TCC-AAA |
c.274_276delinsTTT |
p.G92F |
Missense |
3/10 |
- |
1 |
7-44191957-TCC-ACA |
c.274_276delinsTGT |
p.G92C |
Missense |
3/10 |
- |
1 |
7-44191957-TCC-ATA |
c.274_276delinsTAT |
p.G92Y |
Missense |
3/10 |
- |
1 |
7-44191957-TCC-ATG |
c.274_276delinsCAT |
p.G92H |
Missense |
3/10 |
- |
1 |
7-44191957-TCC-CAT |
c.274_276delinsATG |
p.G92M |
Missense |
3/10 |
- |
1 |
7-44191957-TCC-CCA |
c.274_276delinsTGG |
p.G92W |
Missense |
3/10 |
- |
1 |
7-44191957-TCC-GCT |
c.274_276delinsAGC |
p.G92S |
Missense |
3/10 |
- |
1 |
7-44191957-TCC-GTT |
c.274_276delinsAAC |
p.G92N |
Missense |
3/10 |
- |
1 |
7-44191957-TC-GT |
c.275_276delinsAC |
p.G92D |
Missense |
3/10 |
- |
1 |
7-44191958-C-A |
c.275G>T |
p.G92V |
Missense |
3/10 |
- |
1 |
7-44191958-CC-AG |
c.274_275delinsCT |
p.G92L |
Missense |
3/10 |
- |
1 |
7-44191958-CC-AT |
c.274_275delinsAT |
p.G92I |
Missense |
3/10 |
- |
1 |
7-44191958-CC-GG |
c.274_275inv |
p.G92P |
Missense |
3/10 |
- |
1 |
7-44191958-CC-GT |
c.274_275delinsAC |
p.G92T |
Missense |
3/10 |
- |
1 |
7-44191958-CC-TG |
c.274_275delinsCA |
p.G92Q |
Missense |
3/10 |
- |
1 |
7-44191958-CC-TT |
c.274_275delinsAA |
p.G92K |
Missense |
3/10 |
- |
1 |
7-44191958-C-G |
c.275G>C |
p.G92A |
Missense |
3/10 |
- |
1 |
7-44191958-C-T |
c.275G>A |
p.G92E |
Missense |
3/10 |
- |
4 |
7-44191959-C-A |
c.274G>T |
p.G92* |
Nonsense |
3/10 |
- |
1 |
7-44191959-C-G |
c.274G>C |
p.G92R |
Missense |
3/10 |
- |
1 |
7-44191959-C-T |
c.274G>A |
p.G92R |
Missense |
3/10 |
- |
1 |
7-44191957-TCCCACCTTCA-T |
c.266_275del |
p.V89Efs*10 |
Frameshift |
3/10 |
- |
1 |
7-44191960-CAC-AAA |
c.271_273delinsTTT |
p.V91F |
Missense |
3/10 |
- |
1 |
7-44191960-CAC-ACA |
c.271_273delinsTGT |
p.V91C |
Missense |
3/10 |
- |
1 |
7-44191960-CAC-ATA |
c.271_273delinsTAT |
p.V91Y |
Missense |
3/10 |
- |
1 |
7-44191960-CAC-ATG |
c.271_273delinsCAT |
p.V91H |
Missense |
3/10 |
- |
1 |
7-44191960-CAC-GAT |
c.271_273delinsATC |
p.V91I |
Missense |
3/10 |
- |
1 |
7-44191960-CAC-GTT |
c.271_273delinsAAC |
p.V91N |
Missense |
3/10 |
- |
1 |
7-44191960-CA-GT |
c.272_273delinsAC |
p.V91D |
Missense |
3/10 |
- |
1 |
7-44191960-C-G |
c.273G>C |
p.V91= |
Synonymous |
3/10 |
- |
2 |
7-44191960-C-T |
c.273G>A |
p.V91= |
Synonymous |
3/10 |
- |
2 |
7-44191961-A-C |
c.272T>G |
p.V91G |
Missense |
3/10 |
- |
1 |
7-44191961-AC-CA |
c.271_272delinsTG |
p.V91W |
Missense |
3/10 |
- |
1 |
7-44191961-AC-CT |
c.271_272delinsAG |
p.V91R |
Missense |
3/10 |
- |
1 |
7-44191961-AC-GA |
c.271_272delinsTC |
p.V91S |
Missense |
3/10 |
- |
1 |
7-44191961-AC-GG |
c.271_272delinsCC |
p.V91P |
Missense |
3/10 |
- |
1 |
7-44191961-AC-GT |
c.271_272inv |
p.V91T |
Missense |
3/10 |
- |
1 |
7-44191961-AC-TG |
c.271_272delinsCA |
p.V91Q |
Missense |
3/10 |
- |
1 |
7-44191961-AC-TT |
c.271_272delinsAA |
p.V91K |
Missense |
3/10 |
- |
1 |
7-44191961-A-G |
c.272T>C |
p.V91A |
Missense |
3/10 |
- |
1 |
7-44191961-A-T |
c.272T>A |
p.V91E |
Missense |
3/10 |
- |
1 |
7-44191962-C-A |
c.271G>T |
p.V91L |
Missense |
3/10 |
- |
10 |
7-44191962-C-G |
c.271G>C |
p.V91L |
Missense |
3/10 |
- |
10 |
7-44191962-C-T |
c.271G>A |
p.V91M |
Missense |
3/10 |
- |
1 |
7-44191963-C-A |
c.270G>T |
p.K90N |
Missense |
3/10 |
- |
2 |
7-44191963-C-G |
c.270G>C |
p.K90N |
Missense |
3/10 |
- |
1 |
7-44191963-C-T |
c.270G>A |
p.K90= |
Synonymous |
3/10 |
- |
1 |
7-44191963-CT-GA |
c.269_270delinsTC |
p.K90I |
Missense |
3/10 |
- |
1 |
7-44191963-CT-GC |
c.269_270delinsGC |
p.K90S |
Missense |
3/10 |
- |
1 |
7-44191963-CTT-AAA |
c.268_270delinsTTT |
p.K90F |
Missense |
3/10 |
- |
1 |
7-44191963-CTT-ACA |
c.268_270delinsTGT |
p.K90C |
Missense |
3/10 |
- |
1 |
7-44191963-CTT-ATA |
c.268_270delinsTAT |
p.K90Y |
Missense |
3/10 |
- |
1 |
7-44191963-CTT-ATG |
c.268_270delinsCAT |
p.K90H |
Missense |
3/10 |
- |
1 |
7-44191963-CTT-GTC |
c.268_270delinsGAC |
p.K90D |
Missense |
3/10 |
- |
1 |
7-44191964-T-A |
c.269A>T |
p.K90M |
Missense |
3/10 |
- |
1 |
7-44191964-T-C |
c.269A>G |
p.K90R |
Missense |
3/10 |
- |
5 |
7-44191964-T-G |
c.269A>C |
p.K90T |
Missense |
3/10 |
- |
2 |
7-44191964-TT-AC |
c.268_269delinsGT |
p.K90V |
Missense |
3/10 |
- |
1 |
7-44191964-TT-AG |
c.268_269delinsCT |
p.K90L |
Missense |
3/10 |
- |
1 |
7-44191964-TT-CA |
c.268_269delinsTG |
p.K90W |
Missense |
3/10 |
- |
1 |
7-44191964-TT-CC |
c.268_269delinsGG |
p.K90G |
Missense |
3/10 |
- |
1 |
7-44191964-TT-GC |
c.268_269delinsGC |
p.K90A |
Missense |
3/10 |
- |
1 |
7-44191964-TT-GG |
c.268_269delinsCC |
p.K90P |
Missense |
3/10 |
- |
1 |
7-44191963-CT-C |
c.269del |
p.K90Rfs*12 |
Frameshift |
3/10 |
- |
1 |
7-44191965-T-A |
c.268A>T |
p.K90* |
Nonsense |
3/10 |
- |
1 |
7-44191965-T-C |
c.268A>G |
p.K90E |
Missense |
3/10 |
- |
1 |
7-44191965-T-G |
c.268A>C |
p.K90Q |
Missense |
3/10 |
- |
1 |
7-44191966-CAC-AAA |
c.265_267delinsTTT |
p.V89F |
Missense |
3/10 |
- |
1 |
7-44191966-CAC-ACA |
c.265_267delinsTGT |
p.V89C |
Missense |
3/10 |
- |
1 |
7-44191966-CAC-ATA |
c.265_267delinsTAT |
p.V89Y |
Missense |
3/10 |
- |
1 |
7-44191966-CAC-ATG |
c.265_267delinsCAT |
p.V89H |
Missense |
3/10 |
- |
1 |
7-44191966-CAC-GAT |
c.265_267delinsATC |
p.V89I |
Missense |
3/10 |
- |
1 |
7-44191966-CAC-GTT |
c.265_267delinsAAC |
p.V89N |
Missense |
3/10 |
- |
1 |
7-44191966-CA-GT |
c.266_267delinsAC |
p.V89D |
Missense |
3/10 |
- |
1 |
7-44191967-A-C |
c.266T>G |
p.V89G |
Missense |
3/10 |
- |
1 |
7-44191967-AC-CA |
c.265_266delinsTG |
p.V89W |
Missense |
3/10 |
- |
1 |
7-44191967-AC-CT |
c.265_266delinsAG |
p.V89R |
Missense |
3/10 |
- |
1 |
7-44191967-AC-GA |
c.265_266delinsTC |
p.V89S |
Missense |
3/10 |
- |
1 |
7-44191967-AC-GG |
c.265_266delinsCC |
p.V89P |
Missense |
3/10 |
- |
1 |
7-44191967-AC-GT |
c.265_266inv |
p.V89T |
Missense |
3/10 |
- |
1 |
7-44191967-AC-TG |
c.265_266delinsCA |
p.V89Q |
Missense |
3/10 |
- |
1 |
7-44191967-AC-TT |
c.265_266delinsAA |
p.V89K |
Missense |
3/10 |
- |
1 |
7-44191967-A-G |
c.266T>C |
p.V89A |
Missense |
3/10 |
- |
1 |
7-44191967-A-T |
c.266T>A |
p.V89E |
Missense |
3/10 |
- |
1 |
7-44191968-C-A |
c.265G>T |
p.V89L |
Missense |
3/10 |
- |
1 |
7-44191968-C-G |
c.265G>C |
p.V89L |
Missense |
3/10 |
- |
1 |
7-44191968-C-T |
c.265G>A |
p.V89M |
Missense |
3/10 |
- |
1 |
7-44191969-CA-AT |
c.263_264delinsAT |
p.L88H |
Missense |
3/10 |
- |
1 |
7-44191969-CAG-AAA |
c.262_264delinsTTT |
p.L88F |
Missense |
3/10 |
- |
1 |
7-44191969-CAG-ACA |
c.262_264delinsTGT |
p.L88C |
Missense |
3/10 |
- |
1 |
7-44191969-CAG-ATA |
c.262_264delinsTAT |
p.L88Y |
Missense |
3/10 |
- |
1 |
7-44191969-CAG-GAT |
c.262_264delinsATC |
p.L88I |
Missense |
3/10 |
- |
2 |
7-44191969-CAG-GTC |
c.262_264delinsGAC |
p.L88D |
Missense |
3/10 |
- |
1 |
7-44191969-CAG-GTT |
c.262_264delinsAAC |
p.L88N |
Missense |
3/10 |
- |
1 |
7-44191969-C-T |
c.264G>A |
p.L88= |
Synonymous |
3/10 |
- |
3 |
7-44191970-A-C |
c.263T>G |
p.L88R |
Missense |
3/10 |
- |
1 |
7-44191970-A-G |
c.263T>C |
p.L88P |
Missense |
3/10 |
- |
1 |
7-44191970-AG-CA |
c.262_263delinsTG |
p.L88W |
Missense |
3/10 |
- |
1 |
7-44191970-AG-CC |
c.262_263delinsGG |
p.L88G |
Missense |
3/10 |
- |
1 |
7-44191970-AG-GA |
c.262_263delinsTC |
p.L88S |
Missense |
3/10 |
- |
1 |
7-44191970-AG-GC |
c.262_263delinsGC |
p.L88A |
Missense |
3/10 |
- |
1 |
7-44191970-AG-GT |
c.262_263delinsAC |
p.L88T |
Missense |
3/10 |
- |
1 |
7-44191970-AG-TC |
c.262_263delinsGA |
p.L88E |
Missense |
3/10 |
- |
1 |
7-44191970-AG-TT |
c.262_263delinsAA |
p.L88K |
Missense |
3/10 |
- |
1 |
7-44191970-A-T |
c.263T>A |
p.L88Q |
Missense |
3/10 |
- |
1 |
7-44191971-G-C |
c.262C>G |
p.L88V |
Missense |
3/10 |
- |
1 |
7-44191971-G-T |
c.262C>A |
p.L88M |
Missense |
3/10 |
- |
1 |
7-44191972-C-A |
c.261G>T |
p.M87I |
Missense |
3/10 |
- |
1 |
7-44191972-CA-GC |
c.260_261delinsGC |
p.M87S |
Missense |
3/10 |
- |
1 |
7-44191972-CA-GT |
c.260_261delinsAC |
p.M87N |
Missense |
3/10 |
- |
1 |
7-44191972-CAT-AAA |
c.259_261delinsTTT |
p.M87F |
Missense |
3/10 |
- |
1 |
7-44191972-CAT-ACA |
c.259_261delinsTGT |
p.M87C |
Missense |
3/10 |
- |
1 |
7-44191972-CAT-ATA |
c.259_261delinsTAT |
p.M87Y |
Missense |
3/10 |
- |
1 |
7-44191972-CAT-ATG |
c.259_261inv |
p.M87H |
Missense |
3/10 |
- |
1 |
7-44191972-CAT-GTC |
c.259_261delinsGAC |
p.M87D |
Missense |
3/10 |
- |
1 |
7-44191972-C-G |
c.261G>C |
p.M87I |
Missense |
3/10 |
- |
1 |
7-44191972-C-T |
c.261G>A |
p.M87I |
Missense |
3/10 |
- |
1 |
7-44191973-A-C |
c.260T>G |
p.M87R |
Missense |
3/10 |
- |
1 |
7-44191973-A-G |
c.260T>C |
p.M87T |
Missense |
3/10 |
- |
1 |
7-44191973-A-T |
c.260T>A |
p.M87K |
Missense |
3/10 |
- |
1 |
7-44191973-AT-CA |
c.259_260delinsTG |
p.M87W |
Missense |
3/10 |
- |
1 |
7-44191973-AT-CC |
c.259_260delinsGG |
p.M87G |
Missense |
3/10 |
- |
1 |
7-44191973-AT-GC |
c.259_260delinsGC |
p.M87A |
Missense |
3/10 |
- |
1 |
7-44191973-AT-GG |
c.259_260delinsCC |
p.M87P |
Missense |
3/10 |
- |
1 |
7-44191973-AT-TC |
c.259_260delinsGA |
p.M87E |
Missense |
3/10 |
- |
1 |
7-44191973-AT-TG |
c.259_260delinsCA |
p.M87Q |
Missense |
3/10 |
- |
1 |
7-44191974-T-A |
c.259A>T |
p.M87L |
Missense |
3/10 |
- |
1 |
7-44191974-T-C |
c.259A>G |
p.M87V |
Missense |
3/10 |
- |
1 |
7-44191974-T-G |
c.259A>C |
p.M87L |
Missense |
3/10 |
- |
1 |
7-44191975-CAC-AAA |
c.256_258delinsTTT |
p.V86F |
Missense |
3/10 |
- |
1 |
7-44191975-CAC-ACA |
c.256_258delinsTGT |
p.V86C |
Missense |
3/10 |
- |
1 |
7-44191975-CAC-ATA |
c.256_258delinsTAT |
p.V86Y |
Missense |
3/10 |
- |
1 |
7-44191975-CAC-ATG |
c.256_258delinsCAT |
p.V86H |
Missense |
3/10 |
- |
1 |
7-44191975-CAC-GAT |
c.256_258delinsATC |
p.V86I |
Missense |
3/10 |
- |
1 |
7-44191975-CAC-GTT |
c.256_258delinsAAC |
p.V86N |
Missense |
3/10 |
- |
1 |
7-44191975-CA-GT |
c.257_258delinsAC |
p.V86D |
Missense |
3/10 |
- |
1 |
7-44191976-A-C |
c.257T>G |
p.V86G |
Missense |
3/10 |
- |
1 |
7-44191976-AC-CA |
c.256_257delinsTG |
p.V86W |
Missense |
3/10 |
- |
1 |
7-44191976-AC-CT |
c.256_257delinsAG |
p.V86R |
Missense |
3/10 |
- |
1 |
7-44191976-AC-GA |
c.256_257delinsTC |
p.V86S |
Missense |
3/10 |
- |
1 |
7-44191976-AC-GG |
c.256_257delinsCC |
p.V86P |
Missense |
3/10 |
- |
1 |
7-44191976-AC-GT |
c.256_257inv |
p.V86T |
Missense |
3/10 |
- |
1 |
7-44191976-AC-TG |
c.256_257delinsCA |
p.V86Q |
Missense |
3/10 |
- |
1 |
7-44191976-AC-TT |
c.256_257delinsAA |
p.V86K |
Missense |
3/10 |
- |
1 |
7-44191976-A-G |
c.257T>C |
p.V86A |
Missense |
3/10 |
- |
2 |
7-44191976-A-T |
c.257T>A |
p.V86E |
Missense |
3/10 |
- |
1 |
7-44191977-C-A |
c.256G>T |
p.V86L |
Missense |
3/10 |
- |
1 |
7-44191977-C-G |
c.256G>C |
p.V86L |
Missense |
3/10 |
- |
1 |
7-44191977-C-T |
c.256G>A |
p.V86M |
Missense |
3/10 |
- |
1 |
7-44191978-C-A |
c.255G>T |
p.R85S |
Missense |
3/10 |
- |
1 |
7-44191978-CC-GA |
c.254_255delinsTC |
p.R85I |
Missense |
3/10 |
- |
1 |
7-44191978-CC-GT |
c.254_255delinsAC |
p.R85N |
Missense |
3/10 |
- |
1 |
7-44191978-CCT-AAA |
c.253_255delinsTTT |
p.R85F |
Missense |
3/10 |
- |
1 |
7-44191978-CCT-ACA |
c.253_255delinsTGT |
p.R85C |
Missense |
3/10 |
- |
2 |
7-44191978-CCT-ATA |
c.253_255delinsTAT |
p.R85Y |
Missense |
3/10 |
- |
1 |
7-44191978-CCT-ATG |
c.253_255delinsCAT |
p.R85H |
Missense |
3/10 |
- |
2 |
7-44191978-CCT-GTC |
c.253_255delinsGAC |
p.R85D |
Missense |
3/10 |
- |
1 |
7-44191978-C-G |
c.255G>C |
p.R85S |
Missense |
3/10 |
- |
1 |
7-44191979-C-A |
c.254G>T |
p.R85M |
Missense |
3/10 |
- |
1 |
7-44191979-C-G |
c.254G>C |
p.R85T |
Missense |
3/10 |
- |
1 |
7-44191979-C-T |
c.254G>A |
p.R85K |
Missense |
3/10 |
- |
1 |
7-44191979-CT-AC |
c.253_254delinsGT |
p.R85V |
Missense |
3/10 |
- |
1 |
7-44191979-CT-AG |
c.253_254inv |
p.R85L |
Missense |
3/10 |
- |
1 |
7-44191979-CT-GC |
c.253_254delinsGC |
p.R85A |
Missense |
3/10 |
- |
1 |
7-44191979-CT-GG |
c.253_254delinsCC |
p.R85P |
Missense |
3/10 |
- |
1 |
7-44191979-CT-TC |
c.253_254delinsGA |
p.R85E |
Missense |
3/10 |
- |
1 |
7-44191979-CT-TG |
c.253_254delinsCA |
p.R85Q |
Missense |
3/10 |
- |
1 |
7-44191980-T-A |
c.253A>T |
p.R85W |
Missense |
3/10 |
- |
5 |
7-44191980-T-C |
c.253A>G |
p.R85G |
Missense |
3/10 |
- |
2 |
7-44191981-G-A |
c.252C>T |
p.F84= |
Synonymous |
3/10 |
- |
1 |
7-44191981-GAA-CAT |
c.250_252delinsATG |
p.F84M |
Missense |
3/10 |
- |
1 |
7-44191981-GAA-CTC |
c.250_252delinsGAG |
p.F84E |
Missense |
3/10 |
- |
1 |
7-44191981-GAA-CTT |
c.250_252delinsAAG |
p.F84K |
Missense |
3/10 |
- |
1 |
7-44191981-GAA-TTG |
c.250_252delinsCAA |
p.F84Q |
Missense |
3/10 |
- |
1 |
7-44191981-GA-CC |
c.251_252delinsGG |
p.F84W |
Missense |
3/10 |
- |
1 |
7-44191982-AA-CC |
c.250_251delinsGG |
p.F84G |
Missense |
3/10 |
- |
1 |
7-44191982-AA-CG |
c.250_251delinsCG |
p.F84R |
Missense |
3/10 |
- |
1 |
7-44191982-AA-GC |
c.250_251delinsGC |
p.F84A |
Missense |
3/10 |
- |
1 |
7-44191982-AA-GG |
c.250_251delinsCC |
p.F84P |
Missense |
3/10 |
- |
1 |
7-44191982-AA-GT |
c.250_251delinsAC |
p.F84T |
Missense |
3/10 |
- |
1 |
7-44191982-AA-TC |
c.250_251delinsGA |
p.F84D |
Missense |
3/10 |
- |
1 |
7-44191982-AA-TG |
c.250_251delinsCA |
p.F84H |
Missense |
3/10 |
- |
1 |
7-44191982-AA-TT |
c.250_251inv |
p.F84N |
Missense |
3/10 |
- |
1 |
7-44191982-A-C |
c.251T>G |
p.F84C |
Missense |
3/10 |
- |
1 |
7-44191982-A-G |
c.251T>C |
p.F84S |
Missense |
3/10 |
- |
1 |
7-44191982-A-T |
c.251T>A |
p.F84Y |
Missense |
3/10 |
- |
1 |
7-44191981-G-C |
c.252C>G |
p.F84L |
Missense |
3/10 |
- |
1 |
7-44191981-G-T |
c.252C>A |
p.F84L |
Missense |
3/10 |
- |
1 |
7-44191983-A-C |
c.250T>G |
p.F84V |
Missense |
3/10 |
- |
2 |
7-44191983-A-G |
c.250T>C |
p.F84L |
Missense |
3/10 |
- |
1 |
7-44191983-A-T |
c.250T>A |
p.F84I |
Missense |
3/10 |
- |
1 |
7-44191984-G-A |
c.249C>T |
p.N83= |
Synonymous |
3/10 |
- |
1 |
7-44191984-G-C |
c.249C>G |
p.N83K |
Missense |
3/10 |
- |
1 |
7-44191984-G-T |
c.249C>A |
p.N83K |
Missense |
3/10 |
- |
1 |
7-44191984-GT-CA |
c.248_249delinsTG |
p.N83M |
Missense |
3/10 |
- |
1 |
7-44191984-GT-CC |
c.248_249delinsGG |
p.N83R |
Missense |
3/10 |
- |
1 |
7-44191984-GTT-CCA |
c.247_249delinsTGG |
p.N83W |
Missense |
3/10 |
- |
1 |
7-44191984-GTT-CTC |
c.247_249delinsGAG |
p.N83E |
Missense |
3/10 |
- |
1 |
7-44191984-GTT-TTG |
c.247_249delinsCAA |
p.N83Q |
Missense |
3/10 |
- |
1 |
7-44191985-T-A |
c.248A>T |
p.N83I |
Missense |
3/10 |
- |
1 |
7-44191985-T-C |
c.248A>G |
p.N83S |
Missense |
3/10 |
- |
1 |
7-44191985-T-G |
c.248A>C |
p.N83T |
Missense |
3/10 |
- |
1 |
7-44191985-TT-AA |
c.247_248inv |
p.N83F |
Missense |
3/10 |
- |
1 |
7-44191985-TT-AC |
c.247_248delinsGT |
p.N83V |
Missense |
3/10 |
- |
1 |
7-44191985-TT-AG |
c.247_248delinsCT |
p.N83L |
Missense |
3/10 |
- |
1 |
7-44191985-TT-CA |
c.247_248delinsTG |
p.N83C |
Missense |
3/10 |
- |
1 |
7-44191985-TT-CC |
c.247_248delinsGG |
p.N83G |
Missense |
3/10 |
- |
1 |
7-44191985-TT-GC |
c.247_248delinsGC |
p.N83A |
Missense |
3/10 |
- |
1 |
7-44191985-TT-GG |
c.247_248delinsCC |
p.N83P |
Missense |
3/10 |
- |
1 |
7-44191986-T-A |
c.247A>T |
p.N83Y |
Missense |
3/10 |
- |
1 |
7-44191986-T-C |
c.247A>G |
p.N83D |
Missense |
3/10 |
- |
1 |
7-44191986-T-G |
c.247A>C |
p.N83H |
Missense |
3/10 |
- |
1 |
7-44191987-AG-CA |
c.245_246delinsTG |
p.T82M |
Missense |
3/10 |
- |
1 |
7-44191987-AG-CC |
c.245_246delinsGG |
p.T82R |
Missense |
3/10 |
- |
1 |
7-44191987-AG-CT |
c.245_246inv |
p.T82K |
Missense |
3/10 |
- |
1 |
7-44191987-AGT-CCA |
c.244_246delinsTGG |
p.T82W |
Missense |
3/10 |
- |
1 |
7-44191987-AGT-CTC |
c.244_246delinsGAG |
p.T82E |
Missense |
3/10 |
- |
1 |
7-44191987-AGT-TTG |
c.244_246delinsCAA |
p.T82Q |
Missense |
3/10 |
- |
1 |
7-44191988-G-A |
c.245C>T |
p.T82I |
Missense |
3/10 |
- |
4 |
7-44191988-G-C |
c.245C>G |
p.T82S |
Missense |
3/10 |
- |
2 |
7-44191988-G-T |
c.245C>A |
p.T82N |
Missense |
3/10 |
- |
1 |
7-44191988-GT-AA |
c.244_245delinsTT |
p.T82F |
Missense |
3/10 |
- |
1 |
7-44191988-GT-AC |
c.244_245inv |
p.T82V |
Missense |
3/10 |
- |
1 |
7-44191988-GT-AG |
c.244_245delinsCT |
p.T82L |
Missense |
3/10 |
- |
1 |
7-44191988-GT-CA |
c.244_245delinsTG |
p.T82C |
Missense |
3/10 |
- |
1 |
7-44191988-GT-CC |
c.244_245delinsGG |
p.T82G |
Missense |
3/10 |
- |
1 |
7-44191988-GT-TA |
c.244_245delinsTA |
p.T82Y |
Missense |
3/10 |
- |
1 |
7-44191988-GT-TC |
c.244_245delinsGA |
p.T82D |
Missense |
3/10 |
- |
1 |
7-44191988-GT-TG |
c.244_245delinsCA |
p.T82H |
Missense |
3/10 |
- |
1 |
7-44191989-T-A |
c.244A>T |
p.T82S |
Missense |
3/10 |
- |
2 |
7-44191989-T-C |
c.244A>G |
p.T82A |
Missense |
3/10 |
- |
2 |
7-44191989-T-G |
c.244A>C |
p.T82P |
Missense |
3/10 |
- |
3 |
7-44191990-GCC-CAT |
c.241_243delinsATG |
p.G81M |
Missense |
3/10 |
- |
1 |
7-44191990-GCC-CCA |
c.241_243delinsTGG |
p.G81W |
Missense |
3/10 |
- |
1 |
7-44191990-GCC-CTT |
c.241_243delinsAAG |
p.G81K |
Missense |
3/10 |
- |
1 |
7-44191990-GC-CT |
c.242_243delinsAG |
p.G81E |
Missense |
3/10 |
- |
1 |
7-44191990-GCC-TTG |
c.241_243delinsCAA |
p.G81Q |
Missense |
3/10 |
- |
1 |
7-44191991-C-A |
c.242G>T |
p.G81V |
Missense |
3/10 |
- |
1 |
7-44191991-CC-AA |
c.241_242delinsTT |
p.G81F |
Missense |
3/10 |
- |
1 |
7-44191991-CC-AG |
c.241_242delinsCT |
p.G81L |
Missense |
3/10 |
- |
1 |
7-44191991-CC-AT |
c.241_242delinsAT |
p.G81I |
Missense |
3/10 |
- |
1 |
7-44191991-CC-GG |
c.241_242inv |
p.G81P |
Missense |
3/10 |
- |
1 |
7-44191991-CC-GT |
c.241_242delinsAC |
p.G81T |
Missense |
3/10 |
- |
1 |
7-44191991-CC-TA |
c.241_242delinsTA |
p.G81Y |
Missense |
3/10 |
- |
1 |
7-44191991-CC-TG |
c.241_242delinsCA |
p.G81H |
Missense |
3/10 |
- |
1 |
7-44191991-CC-TT |
c.241_242delinsAA |
p.G81N |
Missense |
3/10 |
- |
1 |
7-44191991-C-G |
c.242G>C |
p.G81A |
Missense |
3/10 |
- |
1 |
7-44191991-C-T |
c.242G>A |
p.G81D |
Missense |
3/10 |
- |
2 |
7-44191992-C-A |
c.241G>T |
p.G81C |
Missense |
3/10 |
- |
3 |
7-44191992-C-G |
c.241G>C |
p.G81R |
Missense |
3/10 |
- |
1 |
7-44191992-C-T |
c.241G>A |
p.G81S |
Missense |
3/10 |
- |
4 |
7-44191993-ACC-CAT |
c.238_240delinsATG |
p.G80M |
Missense |
3/10 |
- |
1 |
7-44191993-ACC-CCA |
c.238_240delinsTGG |
p.G80W |
Missense |
3/10 |
- |
1 |
7-44191993-ACC-CTT |
c.238_240delinsAAG |
p.G80K |
Missense |
3/10 |
- |
1 |
7-44191993-AC-CT |
c.239_240delinsAG |
p.G80E |
Missense |
3/10 |
- |
1 |
7-44191993-ACC-TTG |
c.238_240delinsCAA |
p.G80Q |
Missense |
3/10 |
- |
1 |
7-44191994-C-A |
c.239G>T |
p.G80V |
Missense |
3/10 |
- |
3 |
7-44191994-CC-AA |
c.238_239delinsTT |
p.G80F |
Missense |
3/10 |
- |
1 |
7-44191994-CC-AG |
c.238_239delinsCT |
p.G80L |
Missense |
3/10 |
- |
1 |
7-44191994-CC-AT |
c.238_239delinsAT |
p.G80I |
Missense |
3/10 |
- |
1 |
7-44191994-CC-GG |
c.238_239inv |
p.G80P |
Missense |
3/10 |
- |
1 |
7-44191994-CC-GT |
c.238_239delinsAC |
p.G80T |
Missense |
3/10 |
- |
1 |
7-44191994-CC-TA |
c.238_239delinsTA |
p.G80Y |
Missense |
3/10 |
- |
1 |
7-44191994-CC-TG |
c.238_239delinsCA |
p.G80H |
Missense |
3/10 |
- |
1 |
7-44191994-CC-TT |
c.238_239delinsAA |
p.G80N |
Missense |
3/10 |
- |
1 |
7-44191994-C-G |
c.239G>C |
p.G80A |
Missense |
3/10 |
- |
4 |
7-44191994-C-T |
c.239G>A |
p.G80D |
Missense |
3/10 |
- |
2 |
7-44191995-C-A |
c.238G>T |
p.G80C |
Missense |
3/10 |
- |
1 |
7-44191995-C-G |
c.238G>C |
p.G80R |
Missense |
3/10 |
- |
2 |
7-44191995-C-T |
c.238G>A |
p.G80S |
Missense |
3/10 |
- |
13 |
7-44191996-C-A |
c.237G>T |
p.L79= |
Synonymous |
3/10 |
- |
2 |
7-44191996-CA-AT |
c.236_237delinsAT |
p.L79H |
Missense |
3/10 |
- |
1 |
7-44191996-CAG-AAA |
c.235_237delinsTTT |
p.L79F |
Missense |
3/10 |
- |
1 |
7-44191996-CAG-ACA |
c.235_237delinsTGT |
p.L79C |
Missense |
3/10 |
- |
1 |
7-44191996-CAG-ATA |
c.235_237delinsTAT |
p.L79Y |
Missense |
3/10 |
- |
1 |
7-44191996-CAG-GAT |
c.235_237delinsATC |
p.L79I |
Missense |
3/10 |
- |
2 |
7-44191996-CAG-GTC |
c.235_237delinsGAC |
p.L79D |
Missense |
3/10 |
- |
1 |
7-44191996-CAG-GTT |
c.235_237delinsAAC |
p.L79N |
Missense |
3/10 |
- |
1 |
7-44191996-C-G |
c.237G>C |
p.L79= |
Synonymous |
3/10 |
- |
3 |
7-44191996-C-T |
c.237G>A |
p.L79= |
Synonymous |
3/10 |
- |
3 |
7-44191998-G-A |
c.235C>T |
p.L79= |
Synonymous |
3/10 |
- |
2 |
7-44191997-A-C |
c.236T>G |
p.L79R |
Missense |
3/10 |
- |
1 |
7-44191997-A-G |
c.236T>C |
p.L79P |
Missense |
3/10 |
- |
2 |
7-44191997-AG-CA |
c.235_236delinsTG |
p.L79W |
Missense |
3/10 |
- |
1 |
7-44191997-AG-CC |
c.235_236delinsGG |
p.L79G |
Missense |
3/10 |
- |
1 |
7-44191997-AG-GA |
c.235_236delinsTC |
p.L79S |
Missense |
3/10 |
- |
1 |
7-44191997-AG-GC |
c.235_236delinsGC |
p.L79A |
Missense |
3/10 |
- |
1 |
7-44191997-AG-GT |
c.235_236delinsAC |
p.L79T |
Missense |
3/10 |
- |
1 |
7-44191997-AG-TC |
c.235_236delinsGA |
p.L79E |
Missense |
3/10 |
- |
1 |
7-44191997-AG-TT |
c.235_236delinsAA |
p.L79K |
Missense |
3/10 |
- |
1 |
7-44191997-A-T |
c.236T>A |
p.L79Q |
Missense |
3/10 |
- |
1 |
7-44191998-G-C |
c.235C>G |
p.L79V |
Missense |
3/10 |
- |
2 |
7-44191998-G-T |
c.235C>A |
p.L79M |
Missense |
3/10 |
- |
1 |
7-44191999-G-C |
c.234C>G |
p.D78E |
Missense |
3/10 |
- |
5 |
7-44191999-G-T |
c.234C>A |
p.D78E |
Missense |
3/10 |
- |
2 |
7-44191999-GTC-CAT |
c.232_234delinsATG |
p.D78M |
Missense |
3/10 |
- |
1 |
7-44191999-GTC-CCA |
c.232_234delinsTGG |
p.D78W |
Missense |
3/10 |
- |
1 |
7-44191999-GTC-CTT |
c.232_234delinsAAG |
p.D78K |
Missense |
3/10 |
- |
1 |
7-44191999-GTC-TTG |
c.232_234delinsCAA |
p.D78Q |
Missense |
3/10 |
- |
1 |
7-44192000-T-A |
c.233A>T |
p.D78V |
Missense |
3/10 |
- |
1 |
7-44192000-T-C |
c.233A>G |
p.D78G |
Missense |
3/10 |
- |
2 |
7-44192000-TC-AA |
c.232_233delinsTT |
p.D78F |
Missense |
3/10 |
- |
2 |
7-44192000-TC-AG |
c.232_233delinsCT |
p.D78L |
Missense |
3/10 |
- |
1 |
7-44192000-TC-AT |
c.232_233delinsAT |
p.D78I |
Missense |
3/10 |
- |
1 |
7-44192000-TC-CA |
c.232_233delinsTG |
p.D78C |
Missense |
3/10 |
- |
1 |
7-44192000-TC-CG |
c.232_233delinsCG |
p.D78R |
Missense |
3/10 |
- |
1 |
7-44192000-TC-CT |
c.232_233delinsAG |
p.D78S |
Missense |
3/10 |
- |
1 |
7-44192000-TC-GG |
c.232_233delinsCC |
p.D78P |
Missense |
3/10 |
- |
1 |
7-44192000-TC-GT |
c.232_233delinsAC |
p.D78T |
Missense |
3/10 |
- |
1 |
7-44192000-T-G |
c.233A>C |
p.D78A |
Missense |
3/10 |
- |
1 |
7-44192001-C-A |
c.232G>T |
p.D78Y |
Missense |
3/10 |
- |
1 |
7-44192001-C-G |
c.232G>C |
p.D78H |
Missense |
3/10 |
- |
3 |
7-44192001-C-T |
c.232G>A |
p.D78N |
Missense |
3/10 |
- |
3 |
7-44192002-CA-AT |
c.230_231delinsAT |
p.L77H |
Missense |
3/10 |
- |
1 |
7-44192002-CAG-AAA |
c.229_231delinsTTT |
p.L77F |
Missense |
3/10 |
- |
1 |
7-44192002-CAG-ACA |
c.229_231delinsTGT |
p.L77C |
Missense |
3/10 |
- |
1 |
7-44192002-CAG-ATA |
c.229_231delinsTAT |
p.L77Y |
Missense |
3/10 |
- |
1 |
7-44192002-CAG-GAT |
c.229_231delinsATC |
p.L77I |
Missense |
3/10 |
- |
2 |
7-44192002-CAG-GTC |
c.229_231delinsGAC |
p.L77D |
Missense |
3/10 |
- |
1 |
7-44192002-CAG-GTT |
c.229_231delinsAAC |
p.L77N |
Missense |
3/10 |
- |
1 |
7-44192003-A-C |
c.230T>G |
p.L77R |
Missense |
3/10 |
- |
2 |
7-44192003-A-G |
c.230T>C |
p.L77P |
Missense |
3/10 |
- |
4 |
7-44192003-AG-CA |
c.229_230delinsTG |
p.L77W |
Missense |
3/10 |
- |
1 |
7-44192003-AG-CC |
c.229_230delinsGG |
p.L77G |
Missense |
3/10 |
- |
1 |
7-44192003-AG-GA |
c.229_230delinsTC |
p.L77S |
Missense |
3/10 |
- |
1 |
7-44192003-AG-GC |
c.229_230delinsGC |
p.L77A |
Missense |
3/10 |
- |
1 |
7-44192003-AG-GT |
c.229_230delinsAC |
p.L77T |
Missense |
3/10 |
- |
1 |
7-44192003-AG-TC |
c.229_230delinsGA |
p.L77E |
Missense |
3/10 |
- |
1 |
7-44192003-AG-TT |
c.229_230delinsAA |
p.L77K |
Missense |
3/10 |
- |
1 |
7-44192003-A-T |
c.230T>A |
p.L77Q |
Missense |
3/10 |
- |
1 |
7-44192004-G-C |
c.229C>G |
p.L77V |
Missense |
3/10 |
- |
1 |
7-44192004-G-T |
c.229C>A |
p.L77M |
Missense |
3/10 |
- |
1 |
7-44192005-G-A |
c.228C>T |
p.S76= |
Synonymous |
3/10 |
- |
2 |
7-44192005-G-C |
c.228C>G |
p.S76= |
Synonymous |
3/10 |
- |
1 |
7-44192005-GGA-CAT |
c.226_228delinsATG |
p.S76M |
Missense |
3/10 |
- |
1 |
7-44192005-GGA-CTC |
c.226_228delinsGAG |
p.S76E |
Missense |
3/10 |
- |
1 |
7-44192005-GGA-CTT |
c.226_228delinsAAG |
p.S76K |
Missense |
3/10 |
- |
1 |
7-44192005-GGA-TTG |
c.226_228delinsCAA |
p.S76Q |
Missense |
3/10 |
- |
1 |
7-44192005-GG-CC |
c.227_228inv |
p.S76W |
Missense |
3/10 |
- |
1 |
7-44192005-G-T |
c.228C>A |
p.S76= |
Synonymous |
3/10 |
- |
1 |
7-44192006-G-A |
c.227C>T |
p.S76F |
Missense |
3/10 |
- |
6 |
7-44192006-GA-AC |
c.226_227delinsGT |
p.S76V |
Missense |
3/10 |
- |
1 |
7-44192006-GA-AG |
c.226_227delinsCT |
p.S76L |
Missense |
3/10 |
- |
1 |
7-44192006-GA-AT |
c.226_227delinsAT |
p.S76I |
Missense |
3/10 |
- |
1 |
7-44192006-GA-CC |
c.226_227delinsGG |
p.S76G |
Missense |
3/10 |
- |
1 |
7-44192006-GA-CG |
c.226_227delinsCG |
p.S76R |
Missense |
3/10 |
- |
1 |
7-44192006-GA-TC |
c.226_227inv |
p.S76D |
Missense |
3/10 |
- |
1 |
7-44192006-GA-TG |
c.226_227delinsCA |
p.S76H |
Missense |
3/10 |
- |
1 |
7-44192006-GA-TT |
c.226_227delinsAA |
p.S76N |
Missense |
3/10 |
- |
1 |
7-44192006-G-C |
c.227C>G |
p.S76C |
Missense |
3/10 |
- |
1 |
7-44192006-G-T |
c.227C>A |
p.S76Y |
Missense |
3/10 |
- |
2 |
7-44192007-A-C |
c.226T>G |
p.S76A |
Missense |
3/10 |
- |
1 |
7-44192007-A-G |
c.226T>C |
p.S76P |
Missense |
3/10 |
- |
2 |
7-44192007-A-T |
c.226T>A |
p.S76T |
Missense |
3/10 |
- |
1 |
7-44192008-GAG-CAT |
c.223_225delinsATG |
p.L75M |
Missense |
3/10 |
- |
2 |
7-44192008-GAG-CCA |
c.223_225delinsTGG |
p.L75W |
Missense |
3/10 |
- |
1 |
7-44192008-GAG-CTC |
c.223_225inv |
p.L75E |
Missense |
3/10 |
- |
1 |
7-44192008-GAG-CTT |
c.223_225delinsAAG |
p.L75K |
Missense |
3/10 |
- |
1 |
7-44192008-GA-TT |
c.224_225delinsAA |
p.L75Q |
Missense |
3/10 |
- |
1 |
7-44192009-A-C |
c.224T>G |
p.L75R |
Missense |
3/10 |
- |
1 |
7-44192009-A-G |
c.224T>C |
p.L75P |
Missense |
3/10 |
- |
1 |
7-44192009-AG-CA |
c.223_224delinsTG |
p.L75C |
Missense |
3/10 |
- |
1 |
7-44192009-AG-CC |
c.223_224delinsGG |
p.L75G |
Missense |
3/10 |
- |
1 |
7-44192009-AG-CT |
c.223_224inv |
p.L75S |
Missense |
3/10 |
- |
1 |
7-44192009-AG-GC |
c.223_224delinsGC |
p.L75A |
Missense |
3/10 |
- |
1 |
7-44192009-AG-GT |
c.223_224delinsAC |
p.L75T |
Missense |
3/10 |
- |
1 |
7-44192009-AG-TA |
c.223_224delinsTA |
p.L75Y |
Missense |
3/10 |
- |
1 |
7-44192009-AG-TC |
c.223_224delinsGA |
p.L75D |
Missense |
3/10 |
- |
1 |
7-44192009-AG-TT |
c.223_224delinsAA |
p.L75N |
Missense |
3/10 |
- |
1 |
7-44192009-A-T |
c.224T>A |
p.L75H |
Missense |
3/10 |
- |
1 |
7-44192010-G-A |
c.223C>T |
p.L75F |
Missense |
3/10 |
- |
1 |
7-44192010-G-C |
c.223C>G |
p.L75V |
Missense |
3/10 |
- |
1 |
7-44192010-G-T |
c.223C>A |
p.L75I |
Missense |
3/10 |
- |
1 |
7-44192011-GAA-CAT |
c.220_222delinsATG |
p.F74M |
Missense |
3/10 |
- |
1 |
7-44192011-GAA-CTC |
c.220_222delinsGAG |
p.F74E |
Missense |
3/10 |
- |
1 |
7-44192011-GAA-CTT |
c.220_222delinsAAG |
p.F74K |
Missense |
3/10 |
- |
1 |
7-44192011-GAA-TTG |
c.220_222delinsCAA |
p.F74Q |
Missense |
3/10 |
- |
1 |
7-44192011-GA-CC |
c.221_222delinsGG |
p.F74W |
Missense |
3/10 |
- |
1 |
7-44192012-AA-CC |
c.220_221delinsGG |
p.F74G |
Missense |
3/10 |
- |
1 |
7-44192012-AA-CG |
c.220_221delinsCG |
p.F74R |
Missense |
3/10 |
- |
1 |
7-44192012-AA-GC |
c.220_221delinsGC |
p.F74A |
Missense |
3/10 |
- |
1 |
7-44192012-AA-GG |
c.220_221delinsCC |
p.F74P |
Missense |
3/10 |
- |
1 |
7-44192012-AA-GT |
c.220_221delinsAC |
p.F74T |
Missense |
3/10 |
- |
1 |
7-44192012-AA-TC |
c.220_221delinsGA |
p.F74D |
Missense |
3/10 |
- |
1 |
7-44192012-AA-TG |
c.220_221delinsCA |
p.F74H |
Missense |
3/10 |
- |
1 |
7-44192012-AA-TT |
c.220_221inv |
p.F74N |
Missense |
3/10 |
- |
1 |
7-44192012-A-C |
c.221T>G |
p.F74C |
Missense |
3/10 |
- |
1 |
7-44192012-A-G |
c.221T>C |
p.F74S |
Missense |
3/10 |
- |
1 |
7-44192012-A-T |
c.221T>A |
p.F74Y |
Missense |
3/10 |
- |
1 |
7-44192011-G-C |
c.222C>G |
p.F74L |
Missense |
3/10 |
- |
1 |
7-44192011-G-T |
c.222C>A |
p.F74L |
Missense |
3/10 |
- |
1 |
7-44192013-A-C |
c.220T>G |
p.F74V |
Missense |
3/10 |
- |
1 |
7-44192013-A-G |
c.220T>C |
p.F74L |
Missense |
3/10 |
- |
1 |
7-44192013-A-T |
c.220T>A |
p.F74I |
Missense |
3/10 |
- |
3 |
7-44192014-G-C |
c.219C>G |
p.D73E |
Missense |
3/10 |
- |
3 |
7-44192014-G-T |
c.219C>A |
p.D73E |
Missense |
3/10 |
- |
3 |
7-44192014-GTC-CAT |
c.217_219delinsATG |
p.D73M |
Missense |
3/10 |
- |
1 |
7-44192014-GTC-CCA |
c.217_219delinsTGG |
p.D73W |
Missense |
3/10 |
- |
1 |
7-44192014-GTC-CTT |
c.217_219delinsAAG |
p.D73K |
Missense |
3/10 |
- |
1 |
7-44192014-GTC-TTG |
c.217_219delinsCAA |
p.D73Q |
Missense |
3/10 |
- |
1 |
7-44192015-T-A |
c.218A>T |
p.D73V |
Missense |
3/10 |
- |
1 |
7-44192015-T-C |
c.218A>G |
p.D73G |
Missense |
3/10 |
- |
3 |
7-44192015-TC-AA |
c.217_218delinsTT |
p.D73F |
Missense |
3/10 |
- |
1 |
7-44192015-TC-AG |
c.217_218delinsCT |
p.D73L |
Missense |
3/10 |
- |
1 |
7-44192015-TC-AT |
c.217_218delinsAT |
p.D73I |
Missense |
3/10 |
- |
1 |
7-44192015-TC-CA |
c.217_218delinsTG |
p.D73C |
Missense |
3/10 |
- |
1 |
7-44192015-TC-CG |
c.217_218delinsCG |
p.D73R |
Missense |
3/10 |
- |
1 |
7-44192015-TC-CT |
c.217_218delinsAG |
p.D73S |
Missense |
3/10 |
- |
1 |
7-44192015-TC-GG |
c.217_218delinsCC |
p.D73P |
Missense |
3/10 |
- |
1 |
7-44192015-TC-GT |
c.217_218delinsAC |
p.D73T |
Missense |
3/10 |
- |
1 |
7-44192015-T-G |
c.218A>C |
p.D73A |
Missense |
3/10 |
- |
1 |
7-44192016-C-A |
c.217G>T |
p.D73Y |
Missense |
3/10 |
- |
1 |
7-44192016-C-G |
c.217G>C |
p.D73H |
Missense |
3/10 |
- |
1 |
7-44192016-C-T |
c.217G>A |
p.D73N |
Missense |
3/10 |
- |
5 |
7-44192017-CCC-AAA |
c.214_216delinsTTT |
p.G72F |
Missense |
3/10 |
- |
1 |
7-44192017-CCC-ACA |
c.214_216delinsTGT |
p.G72C |
Missense |
3/10 |
- |
1 |
7-44192017-CCC-ATA |
c.214_216delinsTAT |
p.G72Y |
Missense |
3/10 |
- |
1 |
7-44192017-CCC-ATG |
c.214_216delinsCAT |
p.G72H |
Missense |
3/10 |
- |
1 |
7-44192017-CCC-GAT |
c.214_216delinsATC |
p.G72I |
Missense |
3/10 |
- |
1 |
7-44192017-CCC-GCT |
c.214_216delinsAGC |
p.G72S |
Missense |
3/10 |
- |
2 |
7-44192017-CCC-GTT |
c.214_216delinsAAC |
p.G72N |
Missense |
3/10 |
- |
1 |
7-44192017-CC-GT |
c.215_216delinsAC |
p.G72D |
Missense |
3/10 |
- |
1 |
7-44192018-C-A |
c.215G>T |
p.G72V |
Missense |
3/10 |
- |
1 |
7-44192018-CC-AG |
c.214_215delinsCT |
p.G72L |
Missense |
3/10 |
- |
1 |
7-44192018-CC-AT |
c.214_215delinsAT |
p.G72M |
Missense |
3/10 |
- |
1 |
7-44192018-CC-GG |
c.214_215inv |
p.G72P |
Missense |
3/10 |
- |
1 |
7-44192018-CC-GT |
c.214_215delinsAC |
p.G72T |
Missense |
3/10 |
- |
1 |
7-44192018-CC-TG |
c.214_215delinsCA |
p.G72Q |
Missense |
3/10 |
- |
1 |
7-44192018-CC-TT |
c.214_215delinsAA |
p.G72K |
Missense |
3/10 |
- |
1 |
7-44192018-C-G |
c.215G>C |
p.G72A |
Missense |
3/10 |
- |
2 |
7-44192018-C-T |
c.215G>A |
p.G72E |
Missense |
3/10 |
- |
4 |
7-44192015-TC-T |
c.217del |
p.D73Tfs*14 |
Frameshift |
3/10 |
- |
1 |
7-44192019-C-A |
c.214G>T |
p.G72W |
Missense |
3/10 |
- |
1 |
7-44192019-C-G |
c.214G>C |
p.G72R |
Missense |
3/10 |
- |
6 |
7-44192019-C-T |
c.214G>A |
p.G72R |
Missense |
3/10 |
- |
32 |
7-44192020-G-A |
c.213C>T |
p.V71= |
Synonymous |
3/10 |
- |
2 |
7-44192020-GAC-CAT |
c.211_213delinsATG |
p.V71M |
Missense |
3/10 |
- |
1 |
7-44192020-GAC-CCA |
c.211_213delinsTGG |
p.V71W |
Missense |
3/10 |
- |
1 |
7-44192020-GAC-CTT |
c.211_213delinsAAG |
p.V71K |
Missense |
3/10 |
- |
1 |
7-44192020-GA-CT |
c.212_213delinsAG |
p.V71E |
Missense |
3/10 |
- |
1 |
7-44192020-GAC-TTG |
c.211_213delinsCAA |
p.V71Q |
Missense |
3/10 |
- |
1 |
7-44192021-A-C |
c.212T>G |
p.V71G |
Missense |
3/10 |
- |
1 |
7-44192021-AC-CA |
c.211_212delinsTG |
p.V71C |
Missense |
3/10 |
- |
1 |
7-44192021-AC-CG |
c.211_212delinsCG |
p.V71R |
Missense |
3/10 |
- |
1 |
7-44192021-AC-CT |
c.211_212delinsAG |
p.V71S |
Missense |
3/10 |
- |
1 |
7-44192021-AC-GG |
c.211_212delinsCC |
p.V71P |
Missense |
3/10 |
- |
1 |
7-44192021-AC-GT |
c.211_212inv |
p.V71T |
Missense |
3/10 |
- |
1 |
7-44192021-AC-TA |
c.211_212delinsTA |
p.V71Y |
Missense |
3/10 |
- |
1 |
7-44192021-AC-TG |
c.211_212delinsCA |
p.V71H |
Missense |
3/10 |
- |
1 |
7-44192021-AC-TT |
c.211_212delinsAA |
p.V71N |
Missense |
3/10 |
- |
1 |
7-44192021-A-G |
c.212T>C |
p.V71A |
Missense |
3/10 |
- |
2 |
7-44192021-A-T |
c.212T>A |
p.V71D |
Missense |
3/10 |
- |
1 |
7-44192022-C-A |
c.211G>T |
p.V71F |
Missense |
3/10 |
- |
1 |
7-44192022-C-G |
c.211G>C |
p.V71L |
Missense |
3/10 |
- |
1 |
7-44192022-C-T |
c.211G>A |
p.V71I |
Missense |
3/10 |
- |
3 |
7-44192023-T-A |
c.210A>T |
p.E70D |
Missense |
3/10 |
- |
3 |
7-44192023-T-G |
c.210A>C |
p.E70D |
Missense |
3/10 |
- |
5 |
7-44192024-T-A |
c.209A>T |
p.E70V |
Missense |
3/10 |
- |
1 |
7-44192024-T-C |
c.209A>G |
p.E70G |
Missense |
3/10 |
- |
1 |
7-44192024-T-G |
c.209A>C |
p.E70A |
Missense |
3/10 |
- |
1 |
7-44192032-C-T |
c.209-8G>A |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192203-A-G |
c.209-179T>C |
- |
IntronicSNV |
- |
2/9 |
4 |
7-44192260-C-A |
c.209-236G>T |
- |
IntronicSNV |
- |
2/9 |
3 |
7-44192552-G-A |
c.208+348C>T |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192552-G-T |
c.208+348C>A |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192698-C-T |
c.208+202G>A |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192705-C-T |
c.208+195G>A |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192714-C-T |
c.208+186G>A |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192716-C-T |
c.208+184G>A |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192768-C-T |
c.208+132G>A |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192784-C-T |
c.208+116G>A |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192788-A-G |
c.208+112T>C |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192889-C-T |
c.208+11G>A |
- |
IntronicSNV |
- |
2/9 |
2 |
7-44192897-T-C |
c.208+3A>G |
- |
IntronicSNV |
- |
2/9 |
1 |
7-44192898-A-G |
c.208+2T>C |
- |
IntronicSNV |
- |
2/9 |
2 |
7-44192900-C-G |
c.208G>C |
p.E70Q |
Missense |
2/10 |
- |
1 |
7-44192900-C-T |
c.208G>A |
p.E70K |
Missense |
2/10 |
- |
9 |
7-44192901-TG-AA |
c.206_207delinsTT |
p.S69F |
Missense |
2/10 |
- |
1 |
7-44192901-TGA-ATG |
c.205_207delinsCAT |
p.S69H |
Missense |
2/10 |
- |
1 |
7-44192901-TG-AC |
c.206_207delinsGT |
p.S69C |
Missense |
2/10 |
- |
2 |
7-44192901-TGA-CAT |
c.205_207delinsATG |
p.S69M |
Missense |
2/10 |
- |
1 |
7-44192901-TGA-GTC |
c.205_207delinsGAC |
p.S69D |
Missense |
2/10 |
- |
1 |
7-44192901-TGA-GTT |
c.205_207delinsAAC |
p.S69N |
Missense |
2/10 |
- |
1 |
7-44192901-TG-AT |
c.206_207delinsAT |
p.S69Y |
Missense |
2/10 |
- |
1 |
7-44192901-TG-CC |
c.206_207delinsGG |
p.S69W |
Missense |
2/10 |
- |
1 |
7-44192902-G-A |
c.206C>T |
p.S69L |
Missense |
2/10 |
- |
1 |
7-44192902-GA-AC |
c.205_206delinsGT |
p.S69V |
Missense |
2/10 |
- |
1 |
7-44192902-GA-AT |
c.205_206delinsAT |
p.S69I |
Missense |
2/10 |
- |
1 |
7-44192902-GA-CC |
c.205_206delinsGG |
p.S69G |
Missense |
2/10 |
- |
1 |
7-44192902-GA-CT |
c.205_206delinsAG |
p.S69R |
Missense |
2/10 |
- |
1 |
7-44192902-GA-TC |
c.205_206inv |
p.S69E |
Missense |
2/10 |
- |
1 |
7-44192902-GA-TG |
c.205_206delinsCA |
p.S69Q |
Missense |
2/10 |
- |
1 |
7-44192902-GA-TT |
c.205_206delinsAA |
p.S69K |
Missense |
2/10 |
- |
1 |
7-44192903-A-C |
c.205T>G |
p.S69A |
Missense |
2/10 |
- |
1 |
7-44192903-A-G |
c.205T>C |
p.S69P |
Missense |
2/10 |
- |
2 |
7-44192903-A-T |
c.205T>A |
p.S69T |
Missense |
2/10 |
- |
2 |
7-44192904-GCC-CAT |
c.202_204delinsATG |
p.G68M |
Missense |
2/10 |
- |
1 |
7-44192904-GCC-CCA |
c.202_204delinsTGG |
p.G68W |
Missense |
2/10 |
- |
1 |
7-44192904-GCC-CTT |
c.202_204delinsAAG |
p.G68K |
Missense |
2/10 |
- |
1 |
7-44192904-GC-CT |
c.203_204delinsAG |
p.G68E |
Missense |
2/10 |
- |
1 |
7-44192904-GCC-TTG |
c.202_204delinsCAA |
p.G68Q |
Missense |
2/10 |
- |
1 |
7-44192905-C-A |
c.203G>T |
p.G68V |
Missense |
2/10 |
- |
15 |
7-44192905-CC-AA |
c.202_203delinsTT |
p.G68F |
Missense |
2/10 |
- |
1 |
7-44192905-CC-AG |
c.202_203delinsCT |
p.G68L |
Missense |
2/10 |
- |
1 |
7-44192905-CC-AT |
c.202_203delinsAT |
p.G68I |
Missense |
2/10 |
- |
1 |
7-44192905-CC-GG |
c.202_203inv |
p.G68P |
Missense |
2/10 |
- |
1 |
7-44192905-CC-GT |
c.202_203delinsAC |
p.G68T |
Missense |
2/10 |
- |
1 |
7-44192905-CC-TA |
c.202_203delinsTA |
p.G68Y |
Missense |
2/10 |
- |
1 |
7-44192905-CC-TG |
c.202_203delinsCA |
p.G68H |
Missense |
2/10 |
- |
2 |
7-44192905-CC-TT |
c.202_203delinsAA |
p.G68N |
Missense |
2/10 |
- |
1 |
7-44192905-C-G |
c.203G>C |
p.G68A |
Missense |
2/10 |
- |
1 |
7-44192905-C-T |
c.203G>A |
p.G68D |
Missense |
2/10 |
- |
11 |
7-44192906-C-A |
c.202G>T |
p.G68C |
Missense |
2/10 |
- |
1 |
7-44192906-C-G |
c.202G>C |
p.G68R |
Missense |
2/10 |
- |
1 |
7-44192906-C-T |
c.202G>A |
p.G68S |
Missense |
2/10 |
- |
1 |
7-44192907-T-A |
c.201A>T |
p.E67D |
Missense |
2/10 |
- |
1 |
7-44192907-T-G |
c.201A>C |
p.E67D |
Missense |
2/10 |
- |
1 |
7-44192907-TTC-AAA |
c.199_201delinsTTT |
p.E67F |
Missense |
2/10 |
- |
1 |
7-44192907-TTC-ACA |
c.199_201delinsTGT |
p.E67C |
Missense |
2/10 |
- |
1 |
7-44192907-TTC-ATA |
c.199_201delinsTAT |
p.E67Y |
Missense |
2/10 |
- |
1 |
7-44192907-TTC-ATG |
c.199_201delinsCAT |
p.E67H |
Missense |
2/10 |
- |
1 |
7-44192907-TTC-CAT |
c.199_201delinsATG |
p.E67M |
Missense |
2/10 |
- |
1 |
7-44192907-TTC-CCA |
c.199_201delinsTGG |
p.E67W |
Missense |
2/10 |
- |
1 |
7-44192907-TTC-GTT |
c.199_201delinsAAC |
p.E67N |
Missense |
2/10 |
- |
1 |
7-44192908-T-A |
c.200A>T |
p.E67V |
Missense |
2/10 |
- |
1 |
7-44192908-T-C |
c.200A>G |
p.E67G |
Missense |
2/10 |
- |
1 |
7-44192908-TC-AG |
c.199_200delinsCT |
p.E67L |
Missense |
2/10 |
- |
1 |
7-44192908-TC-AT |
c.199_200delinsAT |
p.E67I |
Missense |
2/10 |
- |
1 |
7-44192908-TC-CT |
c.199_200delinsAG |
p.E67R |
Missense |
2/10 |
- |
1 |
7-44192908-TC-GA |
c.199_200inv |
p.E67S |
Missense |
2/10 |
- |
1 |
7-44192908-TC-GG |
c.199_200delinsCC |
p.E67P |
Missense |
2/10 |
- |
1 |
7-44192908-TC-GT |
c.199_200delinsAC |
p.E67T |
Missense |
2/10 |
- |
1 |
7-44192908-T-G |
c.200A>C |
p.E67A |
Missense |
2/10 |
- |
1 |
7-44192909-C-A |
c.199G>T |
p.E67* |
Nonsense |
2/10 |
- |
1 |
7-44192909-C-G |
c.199G>C |
p.E67Q |
Missense |
2/10 |
- |
1 |
7-44192909-C-T |
c.199G>A |
p.E67K |
Missense |
2/10 |
- |
1 |
7-44192910-TG-AT |
c.197_198delinsAT |
p.P66H |
Missense |
2/10 |
- |
1 |
7-44192910-TGG-AAA |
c.196_198delinsTTT |
p.P66F |
Missense |
2/10 |
- |
1 |
7-44192910-TGG-ACA |
c.196_198delinsTGT |
p.P66C |
Missense |
2/10 |
- |
1 |
7-44192910-TGG-ATA |
c.196_198delinsTAT |
p.P66Y |
Missense |
2/10 |
- |
1 |
7-44192910-TGG-CAT |
c.196_198delinsATG |
p.P66M |
Missense |
2/10 |
- |
1 |
7-44192910-TGG-CCA |
c.196_198inv |
p.P66W |
Missense |
2/10 |
- |
1 |
7-44192910-TGG-GTC |
c.196_198delinsGAC |
p.P66D |
Missense |
2/10 |
- |
1 |
7-44192910-TGG-GTT |
c.196_198delinsAAC |
p.P66N |
Missense |
2/10 |
- |
1 |
7-44192911-G-A |
c.197C>T |
p.P66L |
Missense |
2/10 |
- |
2 |
7-44192911-G-C |
c.197C>G |
p.P66R |
Missense |
2/10 |
- |
1 |
7-44192911-GG-AC |
c.196_197delinsGT |
p.P66V |
Missense |
2/10 |
- |
1 |
7-44192911-GG-AT |
c.196_197delinsAT |
p.P66I |
Missense |
2/10 |
- |
1 |
7-44192911-GG-CC |
c.196_197inv |
p.P66G |
Missense |
2/10 |
- |
2 |
7-44192911-GG-TC |
c.196_197delinsGA |
p.P66E |
Missense |
2/10 |
- |
1 |
7-44192911-GG-TT |
c.196_197delinsAA |
p.P66K |
Missense |
2/10 |
- |
1 |
7-44192911-G-T |
c.197C>A |
p.P66Q |
Missense |
2/10 |
- |
1 |
7-44192912-G-A |
c.196C>T |
p.P66S |
Missense |
2/10 |
- |
3 |
7-44192912-G-C |
c.196C>G |
p.P66A |
Missense |
2/10 |
- |
2 |
7-44192912-G-T |
c.196C>A |
p.P66T |
Missense |
2/10 |
- |
1 |
7-44192913-GG-CA |
c.194_195delinsTG |
p.T65M |
Missense |
2/10 |
- |
2 |
7-44192913-GG-CC |
c.194_195inv |
p.T65R |
Missense |
2/10 |
- |
1 |
7-44192913-GG-CT |
c.194_195delinsAG |
p.T65K |
Missense |
2/10 |
- |
1 |
7-44192913-GGT-CCA |
c.193_195delinsTGG |
p.T65W |
Missense |
2/10 |
- |
2 |
7-44192913-GGT-CTC |
c.193_195delinsGAG |
p.T65E |
Missense |
2/10 |
- |
1 |
7-44192913-GGT-TTG |
c.193_195delinsCAA |
p.T65Q |
Missense |
2/10 |
- |
1 |
7-44192914-G-A |
c.194C>T |
p.T65I |
Missense |
2/10 |
- |
18 |
7-44192914-G-C |
c.194C>G |
p.T65S |
Missense |
2/10 |
- |
1 |
7-44192914-G-T |
c.194C>A |
p.T65N |
Missense |
2/10 |
- |
1 |
7-44192914-GT-AA |
c.193_194delinsTT |
p.T65F |
Missense |
2/10 |
- |
1 |
7-44192914-GT-AC |
c.193_194inv |
p.T65V |
Missense |
2/10 |
- |
1 |
7-44192914-GT-AG |
c.193_194delinsCT |
p.T65L |
Missense |
2/10 |
- |
1 |
7-44192914-GT-CA |
c.193_194delinsTG |
p.T65C |
Missense |
2/10 |
- |
1 |
7-44192914-GT-CC |
c.193_194delinsGG |
p.T65G |
Missense |
2/10 |
- |
1 |
7-44192914-GT-TA |
c.193_194delinsTA |
p.T65Y |
Missense |
2/10 |
- |
1 |
7-44192914-GT-TC |
c.193_194delinsGA |
p.T65D |
Missense |
2/10 |
- |
1 |
7-44192914-GT-TG |
c.193_194delinsCA |
p.T65H |
Missense |
2/10 |
- |
1 |
7-44192915-T-A |
c.193A>T |
p.T65S |
Missense |
2/10 |
- |
1 |
7-44192915-T-C |
c.193A>G |
p.T65A |
Missense |
2/10 |
- |
1 |
7-44192915-T-G |
c.193A>C |
p.T65P |
Missense |
2/10 |
- |
1 |
7-44192916-GGA-CAT |
c.190_192delinsATG |
p.S64M |
Missense |
2/10 |
- |
1 |
7-44192916-GGA-CTC |
c.190_192delinsGAG |
p.S64E |
Missense |
2/10 |
- |
1 |
7-44192916-GGA-CTT |
c.190_192delinsAAG |
p.S64K |
Missense |
2/10 |
- |
1 |
7-44192916-GGA-TTG |
c.190_192delinsCAA |
p.S64Q |
Missense |
2/10 |
- |
1 |
7-44192916-GG-CC |
c.191_192inv |
p.S64W |
Missense |
2/10 |
- |
1 |
7-44192917-G-A |
c.191C>T |
p.S64F |
Missense |
2/10 |
- |
6 |
7-44192917-GA-AC |
c.190_191delinsGT |
p.S64V |
Missense |
2/10 |
- |
1 |
7-44192917-GA-AG |
c.190_191delinsCT |
p.S64L |
Missense |
2/10 |
- |
1 |
7-44192917-GA-AT |
c.190_191delinsAT |
p.S64I |
Missense |
2/10 |
- |
1 |
7-44192917-GA-CC |
c.190_191delinsGG |
p.S64G |
Missense |
2/10 |
- |
1 |
7-44192917-GA-CG |
c.190_191delinsCG |
p.S64R |
Missense |
2/10 |
- |
2 |
7-44192917-GA-TC |
c.190_191inv |
p.S64D |
Missense |
2/10 |
- |
1 |
7-44192917-GA-TG |
c.190_191delinsCA |
p.S64H |
Missense |
2/10 |
- |
1 |
7-44192917-GA-TT |
c.190_191delinsAA |
p.S64N |
Missense |
2/10 |
- |
1 |
7-44192917-G-C |
c.191C>G |
p.S64C |
Missense |
2/10 |
- |
1 |
7-44192917-G-T |
c.191C>A |
p.S64Y |
Missense |
2/10 |
- |
5 |
7-44192918-A-C |
c.190T>G |
p.S64A |
Missense |
2/10 |
- |
1 |
7-44192918-A-G |
c.190T>C |
p.S64P |
Missense |
2/10 |
- |
7 |
7-44192918-A-T |
c.190T>A |
p.S64T |
Missense |
2/10 |
- |
1 |
7-44192919-GCG-CAT |
c.187_189delinsATG |
p.R63M |
Missense |
2/10 |
- |
1 |
7-44192919-GCG-CCA |
c.187_189delinsTGG |
p.R63W |
Missense |
2/10 |
- |
2 |
7-44192919-GCG-CTC |
c.187_189delinsGAG |
p.R63E |
Missense |
2/10 |
- |
1 |
7-44192919-GCG-CTT |
c.187_189delinsAAG |
p.R63K |
Missense |
2/10 |
- |
1 |
7-44192919-GC-TT |
c.188_189delinsAA |
p.R63Q |
Missense |
2/10 |
- |
2 |
7-44192920-C-A |
c.188G>T |
p.R63L |
Missense |
2/10 |
- |
1 |
7-44192920-C-G |
c.188G>C |
p.R63P |
Missense |
2/10 |
- |
1 |
7-44192920-CG-AA |
c.187_188delinsTT |
p.R63F |
Missense |
2/10 |
- |
1 |
7-44192920-CG-AC |
c.187_188delinsGT |
p.R63V |
Missense |
2/10 |
- |
1 |
7-44192920-CG-AT |
c.187_188delinsAT |
p.R63I |
Missense |
2/10 |
- |
1 |
7-44192920-CG-GC |
c.187_188delinsGC |
p.R63A |
Missense |
2/10 |
- |
1 |
7-44192920-CG-GT |
c.187_188delinsAC |
p.R63T |
Missense |
2/10 |
- |
1 |
7-44192920-CG-TA |
c.187_188delinsTA |
p.R63Y |
Missense |
2/10 |
- |
1 |
7-44192920-CG-TC |
c.187_188delinsGA |
p.R63D |
Missense |
2/10 |
- |
1 |
7-44192920-CG-TT |
c.187_188delinsAA |
p.R63N |
Missense |
2/10 |
- |
1 |
7-44192920-C-T |
c.188G>A |
p.R63H |
Missense |
2/10 |
- |
7 |
7-44192921-G-A |
c.187C>T |
p.R63C |
Missense |
2/10 |
- |
3 |
7-44192921-G-C |
c.187C>G |
p.R63G |
Missense |
2/10 |
- |
1 |
7-44192921-G-T |
c.187C>A |
p.R63S |
Missense |
2/10 |
- |
1 |
7-44192922-CAC-AAA |
c.184_186delinsTTT |
p.V62F |
Missense |
2/10 |
- |
1 |
7-44192922-CAC-ACA |
c.184_186delinsTGT |
p.V62C |
Missense |
2/10 |
- |
1 |
7-44192922-CAC-ATA |
c.184_186delinsTAT |
p.V62Y |
Missense |
2/10 |
- |
1 |
7-44192922-CAC-ATG |
c.184_186delinsCAT |
p.V62H |
Missense |
2/10 |
- |
1 |
7-44192922-CAC-GAT |
c.184_186delinsATC |
p.V62I |
Missense |
2/10 |
- |
1 |
7-44192922-CAC-GTT |
c.184_186delinsAAC |
p.V62N |
Missense |
2/10 |
- |
1 |
7-44192922-CA-GT |
c.185_186delinsAC |
p.V62D |
Missense |
2/10 |
- |
1 |
7-44192922-C-T |
c.186G>A |
p.V62= |
Synonymous |
2/10 |
- |
1 |
7-44192922-GC-G |
c.186del |
p.R63Afs*24 |
Frameshift |
2/10 |
- |
1 |
7-44192923-A-C |
c.185T>G |
p.V62G |
Missense |
2/10 |
- |
1 |
7-44192923-AC-CA |
c.184_185delinsTG |
p.V62W |
Missense |
2/10 |
- |
1 |
7-44192923-AC-CT |
c.184_185delinsAG |
p.V62R |
Missense |
2/10 |
- |
1 |
7-44192923-AC-GA |
c.184_185delinsTC |
p.V62S |
Missense |
2/10 |
- |
1 |
7-44192923-AC-GG |
c.184_185delinsCC |
p.V62P |
Missense |
2/10 |
- |
1 |
7-44192923-AC-GT |
c.184_185inv |
p.V62T |
Missense |
2/10 |
- |
1 |
7-44192923-AC-TG |
c.184_185delinsCA |
p.V62Q |
Missense |
2/10 |
- |
2 |
7-44192923-AC-TT |
c.184_185delinsAA |
p.V62K |
Missense |
2/10 |
- |
2 |
7-44192923-A-G |
c.185T>C |
p.V62A |
Missense |
2/10 |
- |
10 |
7-44192923-A-T |
c.185T>A |
p.V62E |
Missense |
2/10 |
- |
2 |
7-44192924-C-A |
c.184G>T |
p.V62L |
Missense |
2/10 |
- |
2 |
7-44192924-C-G |
c.184G>C |
p.V62L |
Missense |
2/10 |
- |
2 |
7-44192924-C-T |
c.184G>A |
p.V62M |
Missense |
2/10 |
- |
24 |
7-44192925-G-A |
c.183C>T |
p.Y61= |
Synonymous |
2/10 |
- |
4 |
7-44192925-G-C |
c.183C>G |
p.Y61* |
Nonsense |
2/10 |
- |
5 |
7-44192925-G-T |
c.183C>A |
p.Y61* |
Nonsense |
2/10 |
- |
9 |
7-44192925-GTA-CAT |
c.181_183delinsATG |
p.Y61M |
Missense |
2/10 |
- |
1 |
7-44192925-GTA-CTC |
c.181_183delinsGAG |
p.Y61E |
Missense |
2/10 |
- |
1 |
7-44192925-GTA-CTT |
c.181_183delinsAAG |
p.Y61K |
Missense |
2/10 |
- |
1 |
7-44192925-GTA-TTG |
c.181_183delinsCAA |
p.Y61Q |
Missense |
2/10 |
- |
3 |
7-44192925-GT-CC |
c.182_183delinsGG |
p.Y61W |
Missense |
2/10 |
- |
1 |
7-44192926-T-A |
c.182A>T |
p.Y61F |
Missense |
2/10 |
- |
1 |
7-44192926-TA-AC |
c.181_182delinsGT |
p.Y61V |
Missense |
2/10 |
- |
1 |
7-44192926-TA-AG |
c.181_182delinsCT |
p.Y61L |
Missense |
2/10 |
- |
1 |
7-44192926-TA-AT |
c.181_182delinsAT |
p.Y61I |
Missense |
2/10 |
- |
1 |
7-44192926-TA-CC |
c.181_182delinsGG |
p.Y61G |
Missense |
2/10 |
- |
1 |
7-44192926-TA-CG |
c.181_182delinsCG |
p.Y61R |
Missense |
2/10 |
- |
1 |
7-44192926-TA-GC |
c.181_182delinsGC |
p.Y61A |
Missense |
2/10 |
- |
1 |
7-44192926-TA-GG |
c.181_182delinsCC |
p.Y61P |
Missense |
2/10 |
- |
1 |
7-44192926-TA-GT |
c.181_182delinsAC |
p.Y61T |
Missense |
2/10 |
- |
1 |
7-44192926-T-C |
c.182A>G |
p.Y61C |
Missense |
2/10 |
- |
4 |
7-44192926-T-G |
c.182A>C |
p.Y61S |
Missense |
2/10 |
- |
3 |
7-44192927-A-C |
c.181T>G |
p.Y61D |
Missense |
2/10 |
- |
1 |
7-44192927-A-G |
c.181T>C |
p.Y61H |
Missense |
2/10 |
- |
2 |
7-44192927-A-T |
c.181T>A |
p.Y61N |
Missense |
2/10 |
- |
1 |
7-44192928-GG-CA |
c.179_180delinsTG |
p.T60M |
Missense |
2/10 |
- |
1 |
7-44192928-GG-CC |
c.179_180inv |
p.T60R |
Missense |
2/10 |
- |
1 |
7-44192928-GG-CT |
c.179_180delinsAG |
p.T60K |
Missense |
2/10 |
- |
1 |
7-44192928-GGT-CCA |
c.178_180delinsTGG |
p.T60W |
Missense |
2/10 |
- |
1 |
7-44192928-GGT-CTC |
c.178_180delinsGAG |
p.T60E |
Missense |
2/10 |
- |
1 |
7-44192928-GGT-TTG |
c.178_180delinsCAA |
p.T60Q |
Missense |
2/10 |
- |
1 |
7-44192929-G-A |
c.179C>T |
p.T60I |
Missense |
2/10 |
- |
5 |
7-44192929-G-C |
c.179C>G |
p.T60S |
Missense |
2/10 |
- |
1 |
7-44192929-G-T |
c.179C>A |
p.T60N |
Missense |
2/10 |
- |
1 |
7-44192929-GT-AA |
c.178_179delinsTT |
p.T60F |
Missense |
2/10 |
- |
1 |
7-44192929-GT-AC |
c.178_179inv |
p.T60V |
Missense |
2/10 |
- |
1 |
7-44192929-GT-AG |
c.178_179delinsCT |
p.T60L |
Missense |
2/10 |
- |
1 |
7-44192929-GT-CA |
c.178_179delinsTG |
p.T60C |
Missense |
2/10 |
- |
1 |
7-44192929-GT-CC |
c.178_179delinsGG |
p.T60G |
Missense |
2/10 |
- |
1 |
7-44192929-GT-TA |
c.178_179delinsTA |
p.T60Y |
Missense |
2/10 |
- |
1 |
7-44192929-GT-TC |
c.178_179delinsGA |
p.T60D |
Missense |
2/10 |
- |
1 |
7-44192929-GT-TG |
c.178_179delinsCA |
p.T60H |
Missense |
2/10 |
- |
1 |
7-44192930-T-A |
c.178A>T |
p.T60S |
Missense |
2/10 |
- |
1 |
7-44192930-T-C |
c.178A>G |
p.T60A |
Missense |
2/10 |
- |
2 |
7-44192930-T-G |
c.178A>C |
p.T60P |
Missense |
2/10 |
- |
1 |
7-44192931-G-A |
c.177C>T |
p.P59= |
Synonymous |
2/10 |
- |
1 |
7-44192931-G-C |
c.177C>G |
p.P59= |
Synonymous |
2/10 |
- |
1 |
7-44192931-GGG-CAT |
c.175_177delinsATG |
p.P59M |
Missense |
2/10 |
- |
1 |
7-44192931-GGG-CCA |
c.175_177delinsTGG |
p.P59W |
Missense |
2/10 |
- |
1 |
7-44192931-GGG-CTC |
c.175_177delinsGAG |
p.P59E |
Missense |
2/10 |
- |
1 |
7-44192931-GGG-CTT |
c.175_177delinsAAG |
p.P59K |
Missense |
2/10 |
- |
1 |
7-44192931-GG-TT |
c.176_177delinsAA |
p.P59Q |
Missense |
2/10 |
- |
1 |
7-44192931-G-T |
c.177C>A |
p.P59= |
Synonymous |
2/10 |
- |
1 |
7-44192932-G-A |
c.176C>T |
p.P59L |
Missense |
2/10 |
- |
2 |
7-44192932-G-C |
c.176C>G |
p.P59R |
Missense |
2/10 |
- |
1 |
7-44192932-GG-AA |
c.175_176delinsTT |
p.P59F |
Missense |
2/10 |
- |
1 |
7-44192932-GG-AC |
c.175_176delinsGT |
p.P59V |
Missense |
2/10 |
- |
1 |
7-44192932-GG-AT |
c.175_176delinsAT |
p.P59I |
Missense |
2/10 |
- |
1 |
7-44192932-GG-CA |
c.175_176delinsTG |
p.P59C |
Missense |
2/10 |
- |
1 |
7-44192932-GG-CC |
c.175_176inv |
p.P59G |
Missense |
2/10 |
- |
1 |
7-44192932-GG-TA |
c.175_176delinsTA |
p.P59Y |
Missense |
2/10 |
- |
1 |
7-44192932-GG-TC |
c.175_176delinsGA |
p.P59D |
Missense |
2/10 |
- |
1 |
7-44192932-GG-TT |
c.175_176delinsAA |
p.P59N |
Missense |
2/10 |
- |
1 |
7-44192932-G-T |
c.176C>A |
p.P59H |
Missense |
2/10 |
- |
1 |
7-44192933-G-A |
c.175C>T |
p.P59S |
Missense |
2/10 |
- |
11 |
7-44192933-G-C |
c.175C>G |
p.P59A |
Missense |
2/10 |
- |
1 |
7-44192933-G-T |
c.175C>A |
p.P59T |
Missense |
2/10 |
- |
1 |
7-44192934-CA-AT |
c.173_174delinsAT |
p.L58H |
Missense |
2/10 |
- |
1 |
7-44192934-CAG-AAA |
c.172_174delinsTTT |
p.L58F |
Missense |
2/10 |
- |
1 |
7-44192934-CAG-ACA |
c.172_174delinsTGT |
p.L58C |
Missense |
2/10 |
- |
1 |
7-44192934-CAG-ATA |
c.172_174delinsTAT |
p.L58Y |
Missense |
2/10 |
- |
1 |
7-44192934-CAG-GAT |
c.172_174delinsATC |
p.L58I |
Missense |
2/10 |
- |
1 |
7-44192934-CAG-GTC |
c.172_174delinsGAC |
p.L58D |
Missense |
2/10 |
- |
1 |
7-44192934-CAG-GTT |
c.172_174delinsAAC |
p.L58N |
Missense |
2/10 |
- |
1 |
7-44192934-GC-G |
c.174del |
p.T60Pfs*27 |
Frameshift |
2/10 |
- |
1 |
7-44192935-A-C |
c.173T>G |
p.L58R |
Missense |
2/10 |
- |
2 |
7-44192935-A-G |
c.173T>C |
p.L58P |
Missense |
2/10 |
- |
5 |
7-44192935-AG-CA |
c.172_173delinsTG |
p.L58W |
Missense |
2/10 |
- |
1 |
7-44192935-AG-CC |
c.172_173delinsGG |
p.L58G |
Missense |
2/10 |
- |
1 |
7-44192935-AG-GA |
c.172_173delinsTC |
p.L58S |
Missense |
2/10 |
- |
1 |
7-44192935-AG-GC |
c.172_173delinsGC |
p.L58A |
Missense |
2/10 |
- |
1 |
7-44192935-AG-GT |
c.172_173delinsAC |
p.L58T |
Missense |
2/10 |
- |
1 |
7-44192935-AG-TC |
c.172_173delinsGA |
p.L58E |
Missense |
2/10 |
- |
1 |
7-44192935-AG-TT |
c.172_173delinsAA |
p.L58K |
Missense |
2/10 |
- |
1 |
7-44192935-A-T |
c.173T>A |
p.L58Q |
Missense |
2/10 |
- |
1 |
7-44192936-G-C |
c.172C>G |
p.L58V |
Missense |
2/10 |
- |
1 |
7-44192936-G-T |
c.172C>A |
p.L58M |
Missense |
2/10 |
- |
1 |
7-44192937-C-A |
c.171G>T |
p.M57I |
Missense |
2/10 |
- |
3 |
7-44192937-CA-GC |
c.170_171delinsGC |
p.M57S |
Missense |
2/10 |
- |
1 |
7-44192937-CA-GT |
c.170_171delinsAC |
p.M57N |
Missense |
2/10 |
- |
1 |
7-44192937-CAT-AAA |
c.169_171delinsTTT |
p.M57F |
Missense |
2/10 |
- |
1 |
7-44192937-CAT-ACA |
c.169_171delinsTGT |
p.M57C |
Missense |
2/10 |
- |
1 |
7-44192937-CAT-ATA |
c.169_171delinsTAT |
p.M57Y |
Missense |
2/10 |
- |
1 |
7-44192937-CAT-ATG |
c.169_171inv |
p.M57H |
Missense |
2/10 |
- |
1 |
7-44192937-CAT-GTC |
c.169_171delinsGAC |
p.M57D |
Missense |
2/10 |
- |
1 |
7-44192937-C-G |
c.171G>C |
p.M57I |
Missense |
2/10 |
- |
2 |
7-44192937-C-T |
c.171G>A |
p.M57I |
Missense |
2/10 |
- |
2 |
7-44192937-GC-G |
c.171del |
p.M57Ifs*30 |
Frameshift |
2/10 |
- |
1 |
7-44192938-A-C |
c.170T>G |
p.M57R |
Missense |
2/10 |
- |
3 |
7-44192938-A-G |
c.170T>C |
p.M57T |
Missense |
2/10 |
- |
1 |
7-44192938-A-T |
c.170T>A |
p.M57K |
Missense |
2/10 |
- |
3 |
7-44192938-AT-C |
c.169_170delinsG |
p.M57Gfs*30 |
Frameshift |
2/10 |
- |
2 |
7-44192938-AT-CA |
c.169_170delinsTG |
p.M57W |
Missense |
2/10 |
- |
1 |
7-44192938-AT-CC |
c.169_170delinsGG |
p.M57G |
Missense |
2/10 |
- |
1 |
7-44192938-AT-GC |
c.169_170delinsGC |
p.M57A |
Missense |
2/10 |
- |
1 |
7-44192938-AT-GG |
c.169_170delinsCC |
p.M57P |
Missense |
2/10 |
- |
1 |
7-44192938-AT-TC |
c.169_170delinsGA |
p.M57E |
Missense |
2/10 |
- |
1 |
7-44192938-AT-TG |
c.169_170delinsCA |
p.M57Q |
Missense |
2/10 |
- |
1 |
7-44192939-T-A |
c.169A>T |
p.M57L |
Missense |
2/10 |
- |
1 |
7-44192939-T-C |
c.169A>G |
p.M57V |
Missense |
2/10 |
- |
1 |
7-44192939-T-G |
c.169A>C |
p.M57L |
Missense |
2/10 |
- |
1 |
7-44192940-C-A |
c.168G>T |
p.K56N |
Missense |
2/10 |
- |
2 |
7-44192940-C-G |
c.168G>C |
p.K56N |
Missense |
2/10 |
- |
2 |
7-44192940-C-T |
c.168G>A |
p.K56= |
Synonymous |
2/10 |
- |
3 |
7-44192940-CT-GA |
c.167_168delinsTC |
p.K56I |
Missense |
2/10 |
- |
1 |
7-44192940-CT-GC |
c.167_168delinsGC |
p.K56S |
Missense |
2/10 |
- |
1 |
7-44192940-CTT-AAA |
c.166_168delinsTTT |
p.K56F |
Missense |
2/10 |
- |
1 |
7-44192940-CTT-ACA |
c.166_168delinsTGT |
p.K56C |
Missense |
2/10 |
- |
1 |
7-44192940-CTT-ATA |
c.166_168delinsTAT |
p.K56Y |
Missense |
2/10 |
- |
1 |
7-44192940-CTT-ATG |
c.166_168delinsCAT |
p.K56H |
Missense |
2/10 |
- |
1 |
7-44192940-CTT-GTC |
c.166_168delinsGAC |
p.K56D |
Missense |
2/10 |
- |
1 |
7-44192940-TC-T |
c.168del |
p.M57Cfs*30 |
Frameshift |
2/10 |
- |
2 |
7-44192941-T-A |
c.167A>T |
p.K56M |
Missense |
2/10 |
- |
1 |
7-44192941-T-C |
c.167A>G |
p.K56R |
Missense |
2/10 |
- |
2 |
7-44192941-T-G |
c.167A>C |
p.K56T |
Missense |
2/10 |
- |
1 |
7-44192941-TT-AC |
c.166_167delinsGT |
p.K56V |
Missense |
2/10 |
- |
1 |
7-44192941-TT-AG |
c.166_167delinsCT |
p.K56L |
Missense |
2/10 |
- |
1 |
7-44192941-TT-CA |
c.166_167delinsTG |
p.K56W |
Missense |
2/10 |
- |
1 |
7-44192941-TT-CC |
c.166_167delinsGG |
p.K56G |
Missense |
2/10 |
- |
1 |
7-44192941-TT-GC |
c.166_167delinsGC |
p.K56A |
Missense |
2/10 |
- |
1 |
7-44192941-TT-GG |
c.166_167delinsCC |
p.K56P |
Missense |
2/10 |
- |
1 |
7-44192942-T-C |
c.166A>G |
p.K56E |
Missense |
2/10 |
- |
1 |
7-44192942-T-G |
c.166A>C |
p.K56Q |
Missense |
2/10 |
- |
1 |
7-44192943-C-A |
c.165G>T |
p.V55= |
Synonymous |
2/10 |
- |
1 |
7-44192943-CAC-AAA |
c.163_165delinsTTT |
p.V55F |
Missense |
2/10 |
- |
1 |
7-44192943-CAC-ACA |
c.163_165delinsTGT |
p.V55C |
Missense |
2/10 |
- |
1 |
7-44192943-CAC-ATA |
c.163_165delinsTAT |
p.V55Y |
Missense |
2/10 |
- |
1 |
7-44192943-CAC-ATG |
c.163_165delinsCAT |
p.V55H |
Missense |
2/10 |
- |
1 |
7-44192943-CAC-GAT |
c.163_165delinsATC |
p.V55I |
Missense |
2/10 |
- |
1 |
7-44192943-CAC-GTT |
c.163_165delinsAAC |
p.V55N |
Missense |
2/10 |
- |
1 |
7-44192943-CA-GT |
c.164_165delinsAC |
p.V55D |
Missense |
2/10 |
- |
1 |
7-44192943-C-G |
c.165G>C |
p.V55= |
Synonymous |
2/10 |
- |
1 |
7-44192943-C-T |
c.165G>A |
p.V55= |
Synonymous |
2/10 |
- |
1 |
7-44192944-A-C |
c.164T>G |
p.V55G |
Missense |
2/10 |
- |
3 |
7-44192944-AC-CA |
c.163_164delinsTG |
p.V55W |
Missense |
2/10 |
- |
1 |
7-44192944-AC-CT |
c.163_164delinsAG |
p.V55R |
Missense |
2/10 |
- |
1 |
7-44192944-AC-GA |
c.163_164delinsTC |
p.V55S |
Missense |
2/10 |
- |
1 |
7-44192944-AC-GG |
c.163_164delinsCC |
p.V55P |
Missense |
2/10 |
- |
1 |
7-44192944-AC-GT |
c.163_164inv |
p.V55T |
Missense |
2/10 |
- |
1 |
7-44192944-AC-TG |
c.163_164delinsCA |
p.V55Q |
Missense |
2/10 |
- |
1 |
7-44192944-AC-TT |
c.163_164delinsAA |
p.V55K |
Missense |
2/10 |
- |
1 |
7-44192944-A-G |
c.164T>C |
p.V55A |
Missense |
2/10 |
- |
1 |
7-44192944-A-T |
c.164T>A |
p.V55E |
Missense |
2/10 |
- |
1 |
7-44192945-C-A |
c.163G>T |
p.V55L |
Missense |
2/10 |
- |
1 |
7-44192945-C-G |
c.163G>C |
p.V55L |
Missense |
2/10 |
- |
1 |
7-44192945-C-T |
c.163G>A |
p.V55M |
Missense |
2/10 |
- |
1 |
7-44192946-A-C |
c.162T>G |
p.S54R |
Missense |
2/10 |
- |
5 |
7-44192946-AC-CA |
c.161_162delinsTG |
p.S54M |
Missense |
2/10 |
- |
1 |
7-44192946-AC-CT |
c.161_162delinsAG |
p.S54K |
Missense |
2/10 |
- |
1 |
7-44192946-ACT-CCA |
c.160_162delinsTGG |
p.S54W |
Missense |
2/10 |
- |
1 |
7-44192946-ACT-CTC |
c.160_162delinsGAG |
p.S54E |
Missense |
2/10 |
- |
1 |
7-44192946-ACT-TTG |
c.160_162delinsCAA |
p.S54Q |
Missense |
2/10 |
- |
1 |
7-44192946-A-G |
c.162T>C |
p.S54= |
Synonymous |
2/10 |
- |
1 |
7-44192946-A-T |
c.162T>A |
p.S54R |
Missense |
2/10 |
- |
2 |
7-44192948-T-G |
c.160A>C |
p.S54R |
Missense |
2/10 |
- |
2 |
7-44192947-C-A |
c.161G>T |
p.S54I |
Missense |
2/10 |
- |
1 |
7-44192947-C-G |
c.161G>C |
p.S54T |
Missense |
2/10 |
- |
1 |
7-44192947-C-T |
c.161G>A |
p.S54N |
Missense |
2/10 |
- |
2 |
7-44192947-CT-AA |
c.160_161delinsTT |
p.S54F |
Missense |
2/10 |
- |
1 |
7-44192947-CT-AC |
c.160_161delinsGT |
p.S54V |
Missense |
2/10 |
- |
1 |
7-44192947-CT-AG |
c.160_161inv |
p.S54L |
Missense |
2/10 |
- |
1 |
7-44192947-CT-GC |
c.160_161delinsGC |
p.S54A |
Missense |
2/10 |
- |
1 |
7-44192947-CT-GG |
c.160_161delinsCC |
p.S54P |
Missense |
2/10 |
- |
1 |
7-44192947-CT-TA |
c.160_161delinsTA |
p.S54Y |
Missense |
2/10 |
- |
1 |
7-44192947-CT-TC |
c.160_161delinsGA |
p.S54D |
Missense |
2/10 |
- |
1 |
7-44192947-CT-TG |
c.160_161delinsCA |
p.S54H |
Missense |
2/10 |
- |
1 |
7-44192948-T-A |
c.160A>T |
p.S54C |
Missense |
2/10 |
- |
1 |
7-44192948-T-C |
c.160A>G |
p.S54G |
Missense |
2/10 |
- |
1 |
7-44192949-GGC-CAT |
c.157_159delinsATG |
p.A53M |
Missense |
2/10 |
- |
1 |
7-44192949-GGC-CCA |
c.157_159delinsTGG |
p.A53W |
Missense |
2/10 |
- |
1 |
7-44192949-GGC-CTT |
c.157_159delinsAAG |
p.A53K |
Missense |
2/10 |
- |
1 |
7-44192949-GG-CT |
c.158_159delinsAG |
p.A53E |
Missense |
2/10 |
- |
1 |
7-44192949-GGC-TTG |
c.157_159delinsCAA |
p.A53Q |
Missense |
2/10 |
- |
1 |
7-44192950-G-A |
c.158C>T |
p.A53V |
Missense |
2/10 |
- |
5 |
7-44192950-G-C |
c.158C>G |
p.A53G |
Missense |
2/10 |
- |
1 |
7-44192950-GC-AA |
c.157_158delinsTT |
p.A53F |
Missense |
2/10 |
- |
2 |
7-44192950-GC-AG |
c.157_158delinsCT |
p.A53L |
Missense |
2/10 |
- |
1 |
7-44192950-GC-AT |
c.157_158delinsAT |
p.A53I |
Missense |
2/10 |
- |
1 |
7-44192950-GC-CA |
c.157_158delinsTG |
p.A53C |
Missense |
2/10 |
- |
2 |
7-44192950-GC-CG |
c.157_158delinsCG |
p.A53R |
Missense |
2/10 |
- |
1 |
7-44192950-GC-TA |
c.157_158delinsTA |
p.A53Y |
Missense |
2/10 |
- |
1 |
7-44192950-GC-TG |
c.157_158delinsCA |
p.A53H |
Missense |
2/10 |
- |
1 |
7-44192950-GC-TT |
c.157_158delinsAA |
p.A53N |
Missense |
2/10 |
- |
1 |
7-44192950-G-T |
c.158C>A |
p.A53D |
Missense |
2/10 |
- |
1 |
7-44192951-C-A |
c.157G>T |
p.A53S |
Missense |
2/10 |
- |
8 |
7-44192951-C-G |
c.157G>C |
p.A53P |
Missense |
2/10 |
- |
1 |
7-44192951-C-T |
c.157G>A |
p.A53T |
Missense |
2/10 |
- |
3 |
7-44192952-C-A |
c.156G>T |
p.E52D |
Missense |
2/10 |
- |
1 |
7-44192952-C-G |
c.156G>C |
p.E52D |
Missense |
2/10 |
- |
1 |
7-44192952-CTC-AAA |
c.154_156delinsTTT |
p.E52F |
Missense |
2/10 |
- |
1 |
7-44192952-CTC-ACA |
c.154_156delinsTGT |
p.E52C |
Missense |
2/10 |
- |
1 |
7-44192952-CTC-ATA |
c.154_156delinsTAT |
p.E52Y |
Missense |
2/10 |
- |
1 |
7-44192952-CTC-ATG |
c.154_156delinsCAT |
p.E52H |
Missense |
2/10 |
- |
1 |
7-44192952-CTC-GAT |
c.154_156delinsATC |
p.E52I |
Missense |
2/10 |
- |
1 |
7-44192952-CTC-GTT |
c.154_156delinsAAC |
p.E52N |
Missense |
2/10 |
- |
1 |
7-44192953-T-A |
c.155A>T |
p.E52V |
Missense |
2/10 |
- |
1 |
7-44192953-T-C |
c.155A>G |
p.E52G |
Missense |
2/10 |
- |
2 |
7-44192953-TC-AG |
c.154_155delinsCT |
p.E52L |
Missense |
2/10 |
- |
1 |
7-44192953-TC-AT |
c.154_155delinsAT |
p.E52M |
Missense |
2/10 |
- |
1 |
7-44192953-TC-CA |
c.154_155delinsTG |
p.E52W |
Missense |
2/10 |
- |
1 |
7-44192953-TC-CT |
c.154_155delinsAG |
p.E52R |
Missense |
2/10 |
- |
1 |
7-44192953-TC-GA |
c.154_155inv |
p.E52S |
Missense |
2/10 |
- |
1 |
7-44192953-TC-GG |
c.154_155delinsCC |
p.E52P |
Missense |
2/10 |
- |
1 |
7-44192953-TC-GT |
c.154_155delinsAC |
p.E52T |
Missense |
2/10 |
- |
1 |
7-44192953-T-G |
c.155A>C |
p.E52A |
Missense |
2/10 |
- |
1 |
7-44192954-C-G |
c.154G>C |
p.E52Q |
Missense |
2/10 |
- |
3 |
7-44192954-C-T |
c.154G>A |
p.E52K |
Missense |
2/10 |
- |
1 |
7-44192956-T-C |
c.152A>G |
p.E51G |
Missense |
2/10 |
- |
1 |
7-44192956-T-G |
c.152A>C |
p.E51A |
Missense |
2/10 |
- |
1 |
7-44192957-C-A |
c.151G>T |
p.E51* |
Nonsense |
2/10 |
- |
1 |
7-44192957-C-T |
c.151G>A |
p.E51K |
Missense |
2/10 |
- |
1 |
7-44192958-A-C |
c.150T>G |
p.H50Q |
Missense |
2/10 |
- |
1 |
7-44192958-A-T |
c.150T>A |
p.H50Q |
Missense |
2/10 |
- |
1 |
7-44192958-A-AT |
c.149dup |
p.H50Qfs*2 |
Frameshift |
2/10 |
- |
2 |
7-44192959-T-A |
c.149A>T |
p.H50L |
Missense |
2/10 |
- |
4 |
7-44192959-T-C |
c.149A>G |
p.H50R |
Missense |
2/10 |
- |
1 |
7-44192960-G-A |
c.148C>T |
p.H50Y |
Missense |
2/10 |
- |
4 |
7-44192960-G-C |
c.148C>G |
p.H50D |
Missense |
2/10 |
- |
3 |
7-44192961-G-A |
c.147C>T |
p.T49= |
Synonymous |
2/10 |
- |
1 |
7-44192961-G-C |
c.147C>G |
p.T49= |
Synonymous |
2/10 |
- |
1 |
7-44192961-G-T |
c.147C>A |
p.T49= |
Synonymous |
2/10 |
- |
1 |
7-44192959-TG-T |
c.148del |
p.H50Mfs*6 |
Frameshift |
2/10 |
- |
1 |
7-44192962-G-A |
c.146C>T |
p.T49I |
Missense |
2/10 |
- |
2 |
7-44192962-G-T |
c.146C>A |
p.T49N |
Missense |
2/10 |
- |
3 |
7-44192964-C-A |
c.144G>T |
p.E48D |
Missense |
2/10 |
- |
1 |
7-44192964-C-G |
c.144G>C |
p.E48D |
Missense |
2/10 |
- |
1 |
7-44192964-CTC-AAA |
c.142_144delinsTTT |
p.E48F |
Missense |
2/10 |
- |
1 |
7-44192964-CTC-ACA |
c.142_144delinsTGT |
p.E48C |
Missense |
2/10 |
- |
2 |
7-44192964-CTC-ATA |
c.142_144delinsTAT |
p.E48Y |
Missense |
2/10 |
- |
1 |
7-44192964-CTC-ATG |
c.142_144delinsCAT |
p.E48H |
Missense |
2/10 |
- |
1 |
7-44192964-CTC-GAT |
c.142_144delinsATC |
p.E48I |
Missense |
2/10 |
- |
1 |
7-44192964-CTC-GTT |
c.142_144delinsAAC |
p.E48N |
Missense |
2/10 |
- |
1 |
7-44192965-T-A |
c.143A>T |
p.E48V |
Missense |
2/10 |
- |
1 |
7-44192965-T-C |
c.143A>G |
p.E48G |
Missense |
2/10 |
- |
1 |
7-44192965-TC-AG |
c.142_143delinsCT |
p.E48L |
Missense |
2/10 |
- |
1 |
7-44192965-TC-AT |
c.142_143delinsAT |
p.E48M |
Missense |
2/10 |
- |
1 |
7-44192965-TC-CA |
c.142_143delinsTG |
p.E48W |
Missense |
2/10 |
- |
1 |
7-44192965-TC-CT |
c.142_143delinsAG |
p.E48R |
Missense |
2/10 |
- |
1 |
7-44192965-TC-GA |
c.142_143inv |
p.E48S |
Missense |
2/10 |
- |
1 |
7-44192965-TC-GG |
c.142_143delinsCC |
p.E48P |
Missense |
2/10 |
- |
1 |
7-44192965-TC-GT |
c.142_143delinsAC |
p.E48T |
Missense |
2/10 |
- |
1 |
7-44192965-T-G |
c.143A>C |
p.E48A |
Missense |
2/10 |
- |
1 |
7-44192966-C-G |
c.142G>C |
p.E48Q |
Missense |
2/10 |
- |
1 |
7-44192966-C-T |
c.142G>A |
p.E48K |
Missense |
2/10 |
- |
4 |
7-44192967-CA-AT |
c.140_141delinsAT |
p.L47H |
Missense |
2/10 |
- |
1 |
7-44192967-CAG-AAA |
c.139_141delinsTTT |
p.L47F |
Missense |
2/10 |
- |
1 |
7-44192967-CAG-ACA |
c.139_141delinsTGT |
p.L47C |
Missense |
2/10 |
- |
1 |
7-44192967-CAG-ATA |
c.139_141delinsTAT |
p.L47Y |
Missense |
2/10 |
- |
1 |
7-44192967-CAG-GAT |
c.139_141delinsATC |
p.L47I |
Missense |
2/10 |
- |
1 |
7-44192967-CAG-GTC |
c.139_141delinsGAC |
p.L47D |
Missense |
2/10 |
- |
1 |
7-44192967-CAG-GTT |
c.139_141delinsAAC |
p.L47N |
Missense |
2/10 |
- |
1 |
7-44192967-C-T |
c.141G>A |
p.L47= |
Synonymous |
2/10 |
- |
2 |
7-44192968-A-C |
c.140T>G |
p.L47R |
Missense |
2/10 |
- |
1 |
7-44192968-A-G |
c.140T>C |
p.L47P |
Missense |
2/10 |
- |
1 |
7-44192968-AG-CA |
c.139_140delinsTG |
p.L47W |
Missense |
2/10 |
- |
1 |
7-44192968-AG-CC |
c.139_140delinsGG |
p.L47G |
Missense |
2/10 |
- |
1 |
7-44192968-AG-GA |
c.139_140delinsTC |
p.L47S |
Missense |
2/10 |
- |
1 |
7-44192968-AG-GC |
c.139_140delinsGC |
p.L47A |
Missense |
2/10 |
- |
1 |
7-44192968-AG-GT |
c.139_140delinsAC |
p.L47T |
Missense |
2/10 |
- |
1 |
7-44192968-AG-TC |
c.139_140delinsGA |
p.L47E |
Missense |
2/10 |
- |
1 |
7-44192968-AG-TT |
c.139_140delinsAA |
p.L47K |
Missense |
2/10 |
- |
1 |
7-44192968-A-T |
c.140T>A |
p.L47Q |
Missense |
2/10 |
- |
1 |
7-44192969-G-A |
c.139C>T |
p.L47= |
Synonymous |
2/10 |
- |
1 |
7-44192969-G-C |
c.139C>G |
p.L47V |
Missense |
2/10 |
- |
1 |
7-44192969-G-T |
c.139C>A |
p.L47M |
Missense |
2/10 |
- |
1 |
7-44192970-C-A |
c.138G>T |
p.R46S |
Missense |
2/10 |
- |
2 |
7-44192970-CC-GA |
c.137_138delinsTC |
p.R46I |
Missense |
2/10 |
- |
1 |
7-44192970-CC-GT |
c.137_138delinsAC |
p.R46N |
Missense |
2/10 |
- |
1 |
7-44192970-CCT-AAA |
c.136_138delinsTTT |
p.R46F |
Missense |
2/10 |
- |
1 |
7-44192970-CCT-ACA |
c.136_138delinsTGT |
p.R46C |
Missense |
2/10 |
- |
1 |
7-44192970-CCT-ATA |
c.136_138delinsTAT |
p.R46Y |
Missense |
2/10 |
- |
1 |
7-44192970-CCT-ATG |
c.136_138delinsCAT |
p.R46H |
Missense |
2/10 |
- |
1 |
7-44192970-CCT-GTC |
c.136_138delinsGAC |
p.R46D |
Missense |
2/10 |
- |
1 |
7-44192970-C-G |
c.138G>C |
p.R46S |
Missense |
2/10 |
- |
2 |
7-44192970-C-T |
c.138G>A |
p.R46= |
Synonymous |
2/10 |
- |
1 |
7-44192971-C-A |
c.137G>T |
p.R46M |
Missense |
2/10 |
- |
4 |
7-44192971-C-G |
c.137G>C |
p.R46T |
Missense |
2/10 |
- |
1 |
7-44192971-C-T |
c.137G>A |
p.R46K |
Missense |
2/10 |
- |
2 |
7-44192971-CT-AC |
c.136_137delinsGT |
p.R46V |
Missense |
2/10 |
- |
1 |
7-44192971-CT-AG |
c.136_137inv |
p.R46L |
Missense |
2/10 |
- |
1 |
7-44192971-CT-GC |
c.136_137delinsGC |
p.R46A |
Missense |
2/10 |
- |
1 |
7-44192971-CT-GG |
c.136_137delinsCC |
p.R46P |
Missense |
2/10 |
- |
1 |
7-44192971-CT-TA |
c.136_137delinsTA |
p.R46* |
Nonsense |
2/10 |
- |
1 |
7-44192971-CT-TC |
c.136_137delinsGA |
p.R46E |
Missense |
2/10 |
- |
1 |
7-44192971-CT-TG |
c.136_137delinsCA |
p.R46Q |
Missense |
2/10 |
- |
4 |
7-44192972-T-A |
c.136A>T |
p.R46W |
Missense |
2/10 |
- |
1 |
7-44192972-T-C |
c.136A>G |
p.R46G |
Missense |
2/10 |
- |
1 |
7-44192973-CA-AT |
c.134_135delinsAT |
p.L45H |
Missense |
2/10 |
- |
1 |
7-44192973-CAG-AAA |
c.133_135delinsTTT |
p.L45F |
Missense |
2/10 |
- |
1 |
7-44192973-CAG-ACA |
c.133_135delinsTGT |
p.L45C |
Missense |
2/10 |
- |
1 |
7-44192973-CAG-ATA |
c.133_135delinsTAT |
p.L45Y |
Missense |
2/10 |
- |
1 |
7-44192973-CAG-GAT |
c.133_135delinsATC |
p.L45I |
Missense |
2/10 |
- |
1 |
7-44192973-CAG-GTC |
c.133_135delinsGAC |
p.L45D |
Missense |
2/10 |
- |
1 |
7-44192973-CAG-GTT |
c.133_135delinsAAC |
p.L45N |
Missense |
2/10 |
- |
1 |
7-44192974-A-C |
c.134T>G |
p.L45R |
Missense |
2/10 |
- |
1 |
7-44192974-A-G |
c.134T>C |
p.L45P |
Missense |
2/10 |
- |
2 |
7-44192974-AG-CA |
c.133_134delinsTG |
p.L45W |
Missense |
2/10 |
- |
1 |
7-44192974-AG-CC |
c.133_134delinsGG |
p.L45G |
Missense |
2/10 |
- |
1 |
7-44192974-AG-GA |
c.133_134delinsTC |
p.L45S |
Missense |
2/10 |
- |
1 |
7-44192974-AG-GC |
c.133_134delinsGC |
p.L45A |
Missense |
2/10 |
- |
1 |
7-44192974-AG-GT |
c.133_134delinsAC |
p.L45T |
Missense |
2/10 |
- |
1 |
7-44192974-AG-TC |
c.133_134delinsGA |
p.L45E |
Missense |
2/10 |
- |
1 |
7-44192974-AG-TT |
c.133_134delinsAA |
p.L45K |
Missense |
2/10 |
- |
1 |
7-44192974-A-T |
c.134T>A |
p.L45Q |
Missense |
2/10 |
- |
5 |
7-44192975-G-C |
c.133C>G |
p.L45V |
Missense |
2/10 |
- |
1 |
7-44192975-G-T |
c.133C>A |
p.L45M |
Missense |
2/10 |
- |
1 |
7-44192976-G-A |
c.132C>T |
p.G44= |
Synonymous |
2/10 |
- |
2 |
7-44192976-GCC-CAT |
c.130_132delinsATG |
p.G44M |
Missense |
2/10 |
- |
1 |
7-44192976-GCC-CCA |
c.130_132delinsTGG |
p.G44W |
Missense |
2/10 |
- |
1 |
7-44192976-GCC-CTT |
c.130_132delinsAAG |
p.G44K |
Missense |
2/10 |
- |
1 |
7-44192976-GC-CT |
c.131_132delinsAG |
p.G44E |
Missense |
2/10 |
- |
1 |
7-44192976-GCC-TTG |
c.130_132delinsCAA |
p.G44Q |
Missense |
2/10 |
- |
1 |
7-44192977-C-A |
c.131G>T |
p.G44V |
Missense |
2/10 |
- |
1 |
7-44192977-CC-AA |
c.130_131delinsTT |
p.G44F |
Missense |
2/10 |
- |
1 |
7-44192977-CC-AG |
c.130_131delinsCT |
p.G44L |
Missense |
2/10 |
- |
1 |
7-44192977-CC-AT |
c.130_131delinsAT |
p.G44I |
Missense |
2/10 |
- |
1 |
7-44192977-CC-GG |
c.130_131inv |
p.G44P |
Missense |
2/10 |
- |
1 |
7-44192977-CC-GT |
c.130_131delinsAC |
p.G44T |
Missense |
2/10 |
- |
1 |
7-44192977-CC-TA |
c.130_131delinsTA |
p.G44Y |
Missense |
2/10 |
- |
1 |
7-44192977-CC-TG |
c.130_131delinsCA |
p.G44H |
Missense |
2/10 |
- |
1 |
7-44192977-CC-TT |
c.130_131delinsAA |
p.G44N |
Missense |
2/10 |
- |
1 |
7-44192977-C-G |
c.131G>C |
p.G44A |
Missense |
2/10 |
- |
1 |
7-44192977-C-T |
c.131G>A |
p.G44D |
Missense |
2/10 |
- |
9 |
7-44192976-GC-G |
c.131del |
p.G44Afs*2 |
Frameshift |
2/10 |
- |
1 |
7-44192978-C-A |
c.130G>T |
p.G44C |
Missense |
2/10 |
- |
2 |
7-44192978-C-G |
c.130G>C |
p.G44R |
Missense |
2/10 |
- |
2 |
7-44192978-C-T |
c.130G>A |
p.G44S |
Missense |
2/10 |
- |
21 |
7-44192979-G-A |
c.129C>T |
p.R43= |
Synonymous |
2/10 |
- |
1 |
7-44192979-G-C |
c.129C>G |
p.R43= |
Synonymous |
2/10 |
- |
1 |
7-44192979-GCG-CAT |
c.127_129delinsATG |
p.R43M |
Missense |
2/10 |
- |
1 |
7-44192979-GCG-CCA |
c.127_129delinsTGG |
p.R43W |
Missense |
2/10 |
- |
1 |
7-44192979-GCG-CTC |
c.127_129delinsGAG |
p.R43E |
Missense |
2/10 |
- |
1 |
7-44192979-GCG-CTT |
c.127_129delinsAAG |
p.R43K |
Missense |
2/10 |
- |
1 |
7-44192979-GC-TT |
c.128_129delinsAA |
p.R43Q |
Missense |
2/10 |
- |
1 |
7-44192979-G-T |
c.129C>A |
p.R43= |
Synonymous |
2/10 |
- |
1 |
7-44192980-C-A |
c.128G>T |
p.R43L |
Missense |
2/10 |
- |
2 |
7-44192980-C-G |
c.128G>C |
p.R43P |
Missense |
2/10 |
- |
8 |
7-44192980-CG-AA |
c.127_128delinsTT |
p.R43F |
Missense |
2/10 |
- |
1 |
7-44192980-CG-AC |
c.127_128delinsGT |
p.R43V |
Missense |
2/10 |
- |
1 |
7-44192980-CG-AT |
c.127_128delinsAT |
p.R43I |
Missense |
2/10 |
- |
1 |
7-44192980-CG-GC |
c.127_128delinsGC |
p.R43A |
Missense |
2/10 |
- |
1 |
7-44192980-CG-GT |
c.127_128delinsAC |
p.R43T |
Missense |
2/10 |
- |
1 |
7-44192980-CG-TA |
c.127_128delinsTA |
p.R43Y |
Missense |
2/10 |
- |
1 |
7-44192980-CG-TC |
c.127_128delinsGA |
p.R43D |
Missense |
2/10 |
- |
1 |
7-44192980-CG-TT |
c.127_128delinsAA |
p.R43N |
Missense |
2/10 |
- |
1 |
7-44192980-C-T |
c.128G>A |
p.R43H |
Missense |
2/10 |
- |
17 |
7-44192981-G-A |
c.127C>T |
p.R43C |
Missense |
2/10 |
- |
14 |
7-44192981-G-C |
c.127C>G |
p.R43G |
Missense |
2/10 |
- |
3 |
7-44192981-G-T |
c.127C>A |
p.R43S |
Missense |
2/10 |
- |
4 |
7-44192982-G-C |
c.126C>G |
p.D42E |
Missense |
2/10 |
- |
1 |
7-44192982-G-T |
c.126C>A |
p.D42E |
Missense |
2/10 |
- |
1 |
7-44192982-GTC-CAT |
c.124_126delinsATG |
p.D42M |
Missense |
2/10 |
- |
1 |
7-44192982-GTC-CCA |
c.124_126delinsTGG |
p.D42W |
Missense |
2/10 |
- |
1 |
7-44192982-GTC-CTT |
c.124_126delinsAAG |
p.D42K |
Missense |
2/10 |
- |
1 |
7-44192982-GTC-TTG |
c.124_126delinsCAA |
p.D42Q |
Missense |
2/10 |
- |
1 |
7-44192983-T-A |
c.125A>T |
p.D42V |
Missense |
2/10 |
- |
1 |
7-44192983-T-C |
c.125A>G |
p.D42G |
Missense |
2/10 |
- |
1 |
7-44192983-TC-AA |
c.124_125delinsTT |
p.D42F |
Missense |
2/10 |
- |
1 |
7-44192983-TC-AG |
c.124_125delinsCT |
p.D42L |
Missense |
2/10 |
- |
1 |
7-44192983-TC-AT |
c.124_125delinsAT |
p.D42I |
Missense |
2/10 |
- |
1 |
7-44192983-TC-CA |
c.124_125delinsTG |
p.D42C |
Missense |
2/10 |
- |
1 |
7-44192983-TC-CG |
c.124_125delinsCG |
p.D42R |
Missense |
2/10 |
- |
1 |
7-44192983-TC-CT |
c.124_125delinsAG |
p.D42S |
Missense |
2/10 |
- |
1 |
7-44192983-TC-GG |
c.124_125delinsCC |
p.D42P |
Missense |
2/10 |
- |
1 |
7-44192983-TC-GT |
c.124_125delinsAC |
p.D42T |
Missense |
2/10 |
- |
1 |
7-44192983-T-G |
c.125A>C |
p.D42A |
Missense |
2/10 |
- |
1 |
7-44192984-C-A |
c.124G>T |
p.D42Y |
Missense |
2/10 |
- |
1 |
7-44192984-C-G |
c.124G>C |
p.D42H |
Missense |
2/10 |
- |
1 |
7-44192984-C-T |
c.124G>A |
p.D42N |
Missense |
2/10 |
- |
2 |
7-44192985-C-A |
c.123G>T |
p.M41I |
Missense |
2/10 |
- |
1 |
7-44192985-CA-GC |
c.122_123delinsGC |
p.M41S |
Missense |
2/10 |
- |
1 |
7-44192985-CA-GT |
c.122_123delinsAC |
p.M41N |
Missense |
2/10 |
- |
1 |
7-44192985-CAT-AAA |
c.121_123delinsTTT |
p.M41F |
Missense |
2/10 |
- |
1 |
7-44192985-CAT-ACA |
c.121_123delinsTGT |
p.M41C |
Missense |
2/10 |
- |
1 |
7-44192985-CAT-ATA |
c.121_123delinsTAT |
p.M41Y |
Missense |
2/10 |
- |
1 |
7-44192985-CAT-ATG |
c.121_123inv |
p.M41H |
Missense |
2/10 |
- |
1 |
7-44192985-CAT-GTC |
c.121_123delinsGAC |
p.M41D |
Missense |
2/10 |
- |
1 |
7-44192985-C-G |
c.123G>C |
p.M41I |
Missense |
2/10 |
- |
1 |
7-44192985-C-T |
c.123G>A |
p.M41I |
Missense |
2/10 |
- |
2 |
7-44192986-A-C |
c.122T>G |
p.M41R |
Missense |
2/10 |
- |
2 |
7-44192986-A-G |
c.122T>C |
p.M41T |
Missense |
2/10 |
- |
6 |
7-44192986-A-T |
c.122T>A |
p.M41K |
Missense |
2/10 |
- |
1 |
7-44192986-AT-CA |
c.121_122delinsTG |
p.M41W |
Missense |
2/10 |
- |
1 |
7-44192986-AT-CC |
c.121_122delinsGG |
p.M41G |
Missense |
2/10 |
- |
1 |
7-44192986-AT-GC |
c.121_122delinsGC |
p.M41A |
Missense |
2/10 |
- |
1 |
7-44192986-AT-GG |
c.121_122delinsCC |
p.M41P |
Missense |
2/10 |
- |
1 |
7-44192986-AT-TC |
c.121_122delinsGA |
p.M41E |
Missense |
2/10 |
- |
1 |
7-44192986-AT-TG |
c.121_122delinsCA |
p.M41Q |
Missense |
2/10 |
- |
1 |
7-44192987-T-A |
c.121A>T |
p.M41L |
Missense |
2/10 |
- |
1 |
7-44192987-T-C |
c.121A>G |
p.M41V |
Missense |
2/10 |
- |
2 |
7-44192987-T-G |
c.121A>C |
p.M41L |
Missense |
2/10 |
- |
1 |
7-44192988-C-A |
c.120G>T |
p.E40D |
Missense |
2/10 |
- |
2 |
7-44192988-C-G |
c.120G>C |
p.E40D |
Missense |
2/10 |
- |
3 |
7-44192988-CTC-AAA |
c.118_120delinsTTT |
p.E40F |
Missense |
2/10 |
- |
1 |
7-44192988-CTC-ACA |
c.118_120delinsTGT |
p.E40C |
Missense |
2/10 |
- |
1 |
7-44192988-CTC-ATA |
c.118_120delinsTAT |
p.E40Y |
Missense |
2/10 |
- |
1 |
7-44192988-CTC-ATG |
c.118_120delinsCAT |
p.E40H |
Missense |
2/10 |
- |
1 |
7-44192988-CTC-GAT |
c.118_120delinsATC |
p.E40I |
Missense |
2/10 |
- |
1 |
7-44192988-CTC-GTT |
c.118_120delinsAAC |
p.E40N |
Missense |
2/10 |
- |
1 |
7-44192989-T-A |
c.119A>T |
p.E40V |
Missense |
2/10 |
- |
1 |
7-44192989-T-C |
c.119A>G |
p.E40G |
Missense |
2/10 |
- |
1 |
7-44192989-TC-AG |
c.118_119delinsCT |
p.E40L |
Missense |
2/10 |
- |
1 |
7-44192989-TC-AT |
c.118_119delinsAT |
p.E40M |
Missense |
2/10 |
- |
1 |
7-44192989-TC-CA |
c.118_119delinsTG |
p.E40W |
Missense |
2/10 |
- |
1 |
7-44192989-TC-CT |
c.118_119delinsAG |
p.E40R |
Missense |
2/10 |
- |
1 |
7-44192989-TC-GA |
c.118_119inv |
p.E40S |
Missense |
2/10 |
- |
1 |
7-44192989-TC-GG |
c.118_119delinsCC |
p.E40P |
Missense |
2/10 |
- |
1 |
7-44192989-TC-GT |
c.118_119delinsAC |
p.E40T |
Missense |
2/10 |
- |
1 |
7-44192989-T-G |
c.119A>C |
p.E40A |
Missense |
2/10 |
- |
1 |
7-44192990-C-G |
c.118G>C |
p.E40Q |
Missense |
2/10 |
- |
1 |
7-44192990-C-T |
c.118G>A |
p.E40K |
Missense |
2/10 |
- |
15 |
7-44192991-C-A |
c.117G>T |
p.K39N |
Missense |
2/10 |
- |
1 |
7-44192991-C-G |
c.117G>C |
p.K39N |
Missense |
2/10 |
- |
1 |
7-44192991-C-T |
c.117G>A |
p.K39= |
Synonymous |
2/10 |
- |
1 |
7-44192991-CT-GA |
c.116_117delinsTC |
p.K39I |
Missense |
2/10 |
- |
1 |
7-44192991-CT-GC |
c.116_117delinsGC |
p.K39S |
Missense |
2/10 |
- |
1 |
7-44192991-CTT-AAA |
c.115_117delinsTTT |
p.K39F |
Missense |
2/10 |
- |
1 |
7-44192991-CTT-ACA |
c.115_117delinsTGT |
p.K39C |
Missense |
2/10 |
- |
1 |
7-44192991-CTT-ATA |
c.115_117delinsTAT |
p.K39Y |
Missense |
2/10 |
- |
1 |
7-44192991-CTT-ATG |
c.115_117delinsCAT |
p.K39H |
Missense |
2/10 |
- |
1 |
7-44192991-CTT-GTC |
c.115_117delinsGAC |
p.K39D |
Missense |
2/10 |
- |
1 |
7-44192992-T-A |
c.116A>T |
p.K39M |
Missense |
2/10 |
- |
1 |
7-44192992-T-C |
c.116A>G |
p.K39R |
Missense |
2/10 |
- |
1 |
7-44192992-T-G |
c.116A>C |
p.K39T |
Missense |
2/10 |
- |
1 |
7-44192992-TT-AC |
c.115_116delinsGT |
p.K39V |
Missense |
2/10 |
- |
1 |
7-44192992-TT-AG |
c.115_116delinsCT |
p.K39L |
Missense |
2/10 |
- |
1 |
7-44192992-TT-CA |
c.115_116delinsTG |
p.K39W |
Missense |
2/10 |
- |
1 |
7-44192992-TT-CC |
c.115_116delinsGG |
p.K39G |
Missense |
2/10 |
- |
1 |
7-44192992-TT-GC |
c.115_116delinsGC |
p.K39A |
Missense |
2/10 |
- |
1 |
7-44192992-TT-GG |
c.115_116delinsCC |
p.K39P |
Missense |
2/10 |
- |
1 |
7-44192990-CCTT-C |
c.115_117del |
p.K39del |
InFrameDeletion |
2/10 |
- |
5 |
7-44192991-CT-C |
c.116del |
p.K39Rfs*7 |
Frameshift |
2/10 |
- |
1 |
7-44192993-T-C |
c.115A>G |
p.K39E |
Missense |
2/10 |
- |
2 |
7-44192993-T-G |
c.115A>C |
p.K39Q |
Missense |
2/10 |
- |
1 |
7-44192994-C-A |
c.114G>T |
p.Q38H |
Missense |
2/10 |
- |
1 |
7-44192994-C-G |
c.114G>C |
p.Q38H |
Missense |
2/10 |
- |
1 |
7-44192994-CTG-AAA |
c.112_114delinsTTT |
p.Q38F |
Missense |
2/10 |
- |
1 |
7-44192994-CTG-ACA |
c.112_114delinsTGT |
p.Q38C |
Missense |
2/10 |
- |
1 |
7-44192994-CTG-ATA |
c.112_114delinsTAT |
p.Q38Y |
Missense |
2/10 |
- |
1 |
7-44192994-CTG-GAT |
c.112_114delinsATC |
p.Q38I |
Missense |
2/10 |
- |
1 |
7-44192994-CTG-GTC |
c.112_114delinsGAC |
p.Q38D |
Missense |
2/10 |
- |
1 |
7-44192994-CTG-GTT |
c.112_114delinsAAC |
p.Q38N |
Missense |
2/10 |
- |
1 |
7-44192995-T-A |
c.113A>T |
p.Q38L |
Missense |
2/10 |
- |
3 |
7-44192995-T-C |
c.113A>G |
p.Q38R |
Missense |
2/10 |
- |
1 |
7-44192995-T-G |
c.113A>C |
p.Q38P |
Missense |
2/10 |
- |
3 |
7-44192995-TG-AC |
c.112_113delinsGT |
p.Q38V |
Missense |
2/10 |
- |
1 |
7-44192995-TG-AT |
c.112_113delinsAT |
p.Q38M |
Missense |
2/10 |
- |
1 |
7-44192995-TG-CA |
c.112_113inv |
p.Q38W |
Missense |
2/10 |
- |
1 |
7-44192995-TG-CC |
c.112_113delinsGG |
p.Q38G |
Missense |
2/10 |
- |
1 |
7-44192995-TG-GA |
c.112_113delinsTC |
p.Q38S |
Missense |
2/10 |
- |
1 |
7-44192995-TG-GC |
c.112_113delinsGC |
p.Q38A |
Missense |
2/10 |
- |
1 |
7-44192995-TG-GT |
c.112_113delinsAC |
p.Q38T |
Missense |
2/10 |
- |
1 |
7-44192996-G-A |
c.112C>T |
p.Q38* |
Nonsense |
2/10 |
- |
1 |
7-44192996-G-C |
c.112C>G |
p.Q38E |
Missense |
2/10 |
- |
1 |
7-44192996-G-T |
c.112C>A |
p.Q38K |
Missense |
2/10 |
- |
3 |
7-44192997-C-A |
c.111G>T |
p.M37I |
Missense |
2/10 |
- |
1 |
7-44192997-CA-GC |
c.110_111delinsGC |
p.M37S |
Missense |
2/10 |
- |
1 |
7-44192997-CA-GT |
c.110_111delinsAC |
p.M37N |
Missense |
2/10 |
- |
1 |
7-44192997-CAT-AAA |
c.109_111delinsTTT |
p.M37F |
Missense |
2/10 |
- |
1 |
7-44192997-CAT-ACA |
c.109_111delinsTGT |
p.M37C |
Missense |
2/10 |
- |
1 |
7-44192997-CAT-ATA |
c.109_111delinsTAT |
p.M37Y |
Missense |
2/10 |
- |
1 |
7-44192997-CAT-ATG |
c.109_111inv |
p.M37H |
Missense |
2/10 |
- |
1 |
7-44192997-CAT-GTC |
c.109_111delinsGAC |
p.M37D |
Missense |
2/10 |
- |
1 |
7-44192997-C-G |
c.111G>C |
p.M37I |
Missense |
2/10 |
- |
1 |
7-44192997-C-T |
c.111G>A |
p.M37I |
Missense |
2/10 |
- |
1 |
7-44192998-A-C |
c.110T>G |
p.M37R |
Missense |
2/10 |
- |
2 |
7-44192998-A-G |
c.110T>C |
p.M37T |
Missense |
2/10 |
- |
3 |
7-44192998-A-T |
c.110T>A |
p.M37K |
Missense |
2/10 |
- |
2 |
7-44192998-AT-CA |
c.109_110delinsTG |
p.M37W |
Missense |
2/10 |
- |
1 |
7-44192998-AT-CC |
c.109_110delinsGG |
p.M37G |
Missense |
2/10 |
- |
1 |
7-44192998-AT-GC |
c.109_110delinsGC |
p.M37A |
Missense |
2/10 |
- |
1 |
7-44192998-AT-GG |
c.109_110delinsCC |
p.M37P |
Missense |
2/10 |
- |
1 |
7-44192998-AT-TC |
c.109_110delinsGA |
p.M37E |
Missense |
2/10 |
- |
1 |
7-44192998-AT-TG |
c.109_110delinsCA |
p.M37Q |
Missense |
2/10 |
- |
1 |
7-44192999-T-A |
c.109A>T |
p.M37L |
Missense |
2/10 |
- |
1 |
7-44192999-T-C |
c.109A>G |
p.M37V |
Missense |
2/10 |
- |
1 |
7-44192999-T-G |
c.109A>C |
p.M37L |
Missense |
2/10 |
- |
1 |
7-44193000-CC-AT |
c.107_108delinsAT |
p.R36H |
Missense |
2/10 |
- |
1 |
7-44193000-CCG-AAA |
c.106_108delinsTTT |
p.R36F |
Missense |
2/10 |
- |
1 |
7-44193000-CCG-ACA |
c.106_108delinsTGT |
p.R36C |
Missense |
2/10 |
- |
1 |
7-44193000-CCG-ATA |
c.106_108delinsTAT |
p.R36Y |
Missense |
2/10 |
- |
1 |
7-44193000-CCG-GAT |
c.106_108delinsATC |
p.R36I |
Missense |
2/10 |
- |
1 |
7-44193000-CCG-GCT |
c.106_108delinsAGC |
p.R36S |
Missense |
2/10 |
- |
1 |
7-44193000-CCG-GTC |
c.106_108delinsGAC |
p.R36D |
Missense |
2/10 |
- |
1 |
7-44193000-CCG-GTT |
c.106_108delinsAAC |
p.R36N |
Missense |
2/10 |
- |
1 |
7-44192999-TC-T |
c.108del |
p.M37Cfs*9 |
Frameshift |
2/10 |
- |
1 |
7-44193001-C-A |
c.107G>T |
p.R36L |
Missense |
2/10 |
- |
2 |
7-44193001-C-G |
c.107G>C |
p.R36P |
Missense |
2/10 |
- |
6 |
7-44193001-CG-AC |
c.106_107delinsGT |
p.R36V |
Missense |
2/10 |
- |
1 |
7-44193001-CG-AT |
c.106_107delinsAT |
p.R36M |
Missense |
2/10 |
- |
1 |
7-44193001-CG-GC |
c.106_107delinsGC |
p.R36A |
Missense |
2/10 |
- |
1 |
7-44193001-CG-GT |
c.106_107delinsAC |
p.R36T |
Missense |
2/10 |
- |
1 |
7-44193001-CG-TC |
c.106_107delinsGA |
p.R36E |
Missense |
2/10 |
- |
1 |
7-44193001-CG-TT |
c.106_107delinsAA |
p.R36K |
Missense |
2/10 |
- |
2 |
7-44193001-C-T |
c.107G>A |
p.R36Q |
Missense |
2/10 |
- |
9 |
7-44193002-G-A |
c.106C>T |
p.R36W |
Missense |
2/10 |
- |
21 |
7-44193002-G-C |
c.106C>G |
p.R36G |
Missense |
2/10 |
- |
1 |
7-44193003-T-A |
c.105A>T |
p.R35S |
Missense |
2/10 |
- |
1 |
7-44193003-TC-CA |
c.104_105delinsTG |
p.R35M |
Missense |
2/10 |
- |
1 |
7-44193003-TC-GT |
c.104_105delinsAC |
p.R35N |
Missense |
2/10 |
- |
1 |
7-44193003-TCT-AAA |
c.103_105delinsTTT |
p.R35F |
Missense |
2/10 |
- |
1 |
7-44193003-TCT-ACA |
c.103_105delinsTGT |
p.R35C |
Missense |
2/10 |
- |
1 |
7-44193003-TCT-ATA |
c.103_105delinsTAT |
p.R35Y |
Missense |
2/10 |
- |
1 |
7-44193003-TCT-ATG |
c.103_105delinsCAT |
p.R35H |
Missense |
2/10 |
- |
1 |
7-44193003-TCT-CCA |
c.103_105delinsTGG |
p.R35W |
Missense |
2/10 |
- |
2 |
7-44193003-TCT-GTC |
c.103_105delinsGAC |
p.R35D |
Missense |
2/10 |
- |
1 |
7-44193003-T-G |
c.105A>C |
p.R35S |
Missense |
2/10 |
- |
1 |
7-44193004-C-A |
c.104G>T |
p.R35I |
Missense |
2/10 |
- |
1 |
7-44193004-C-G |
c.104G>C |
p.R35T |
Missense |
2/10 |
- |
1 |
7-44193004-C-T |
c.104G>A |
p.R35K |
Missense |
2/10 |
- |
2 |
7-44193004-CT-AC |
c.103_104delinsGT |
p.R35V |
Missense |
2/10 |
- |
1 |
7-44193004-CT-AG |
c.103_104inv |
p.R35L |
Missense |
2/10 |
- |
1 |
7-44193004-CT-GC |
c.103_104delinsGC |
p.R35A |
Missense |
2/10 |
- |
1 |
7-44193004-CT-GG |
c.103_104delinsCC |
p.R35P |
Missense |
2/10 |
- |
1 |
7-44193004-CT-TC |
c.103_104delinsGA |
p.R35E |
Missense |
2/10 |
- |
1 |
7-44193004-CT-TG |
c.103_104delinsCA |
p.R35Q |
Missense |
2/10 |
- |
3 |
7-44193005-T-A |
c.103A>T |
p.R35* |
Nonsense |
2/10 |
- |
1 |
7-44193005-T-C |
c.103A>G |
p.R35G |
Missense |
2/10 |
- |
1 |
7-44193006-C-A |
c.102G>T |
p.M34I |
Missense |
2/10 |
- |
1 |
7-44193006-CA-GC |
c.101_102delinsGC |
p.M34S |
Missense |
2/10 |
- |
1 |
7-44193006-CA-GT |
c.101_102delinsAC |
p.M34N |
Missense |
2/10 |
- |
1 |
7-44193006-CAT-AAA |
c.100_102delinsTTT |
p.M34F |
Missense |
2/10 |
- |
1 |
7-44193006-CAT-ACA |
c.100_102delinsTGT |
p.M34C |
Missense |
2/10 |
- |
1 |
7-44193006-CAT-ATA |
c.100_102delinsTAT |
p.M34Y |
Missense |
2/10 |
- |
1 |
7-44193006-CAT-ATG |
c.100_102inv |
p.M34H |
Missense |
2/10 |
- |
1 |
7-44193006-CAT-GTC |
c.100_102delinsGAC |
p.M34D |
Missense |
2/10 |
- |
1 |
7-44193006-C-G |
c.102G>C |
p.M34I |
Missense |
2/10 |
- |
1 |
7-44193006-C-T |
c.102G>A |
p.M34I |
Missense |
2/10 |
- |
1 |
7-44193007-A-C |
c.101T>G |
p.M34R |
Missense |
2/10 |
- |
1 |
7-44193007-A-G |
c.101T>C |
p.M34T |
Missense |
2/10 |
- |
2 |
7-44193007-A-T |
c.101T>A |
p.M34K |
Missense |
2/10 |
- |
1 |
7-44193007-AT-CA |
c.100_101delinsTG |
p.M34W |
Missense |
2/10 |
- |
1 |
7-44193007-AT-CC |
c.100_101delinsGG |
p.M34G |
Missense |
2/10 |
- |
2 |
7-44193007-AT-GC |
c.100_101delinsGC |
p.M34A |
Missense |
2/10 |
- |
1 |
7-44193007-AT-GG |
c.100_101delinsCC |
p.M34P |
Missense |
2/10 |
- |
1 |
7-44193007-AT-TC |
c.100_101delinsGA |
p.M34E |
Missense |
2/10 |
- |
1 |
7-44193007-AT-TG |
c.100_101delinsCA |
p.M34Q |
Missense |
2/10 |
- |
1 |
7-44193008-T-A |
c.100A>T |
p.M34L |
Missense |
2/10 |
- |
1 |
7-44193008-T-C |
c.100A>G |
p.M34V |
Missense |
2/10 |
- |
1 |
7-44193008-T-G |
c.100A>C |
p.M34L |
Missense |
2/10 |
- |
1 |
7-44193009-CAC-AAA |
c.97_99delinsTTT |
p.V33F |
Missense |
2/10 |
- |
1 |
7-44193009-CAC-ACA |
c.97_99delinsTGT |
p.V33C |
Missense |
2/10 |
- |
1 |
7-44193009-CAC-ATA |
c.97_99delinsTAT |
p.V33Y |
Missense |
2/10 |
- |
1 |
7-44193009-CAC-ATG |
c.97_99delinsCAT |
p.V33H |
Missense |
2/10 |
- |
1 |
7-44193009-CAC-GAT |
c.97_99delinsATC |
p.V33I |
Missense |
2/10 |
- |
1 |
7-44193009-CAC-GTT |
c.97_99delinsAAC |
p.V33N |
Missense |
2/10 |
- |
1 |
7-44193009-CA-GT |
c.98_99delinsAC |
p.V33D |
Missense |
2/10 |
- |
1 |
7-44193010-A-C |
c.98T>G |
p.V33G |
Missense |
2/10 |
- |
2 |
7-44193010-AC-CA |
c.97_98delinsTG |
p.V33W |
Missense |
2/10 |
- |
1 |
7-44193010-AC-CT |
c.97_98delinsAG |
p.V33R |
Missense |
2/10 |
- |
1 |
7-44193010-AC-GA |
c.97_98delinsTC |
p.V33S |
Missense |
2/10 |
- |
1 |
7-44193010-AC-GG |
c.97_98delinsCC |
p.V33P |
Missense |
2/10 |
- |
1 |
7-44193010-AC-GT |
c.97_98inv |
p.V33T |
Missense |
2/10 |
- |
1 |
7-44193010-AC-TG |
c.97_98delinsCA |
p.V33Q |
Missense |
2/10 |
- |
1 |
7-44193010-AC-TT |
c.97_98delinsAA |
p.V33K |
Missense |
2/10 |
- |
1 |
7-44193010-A-G |
c.98T>C |
p.V33A |
Missense |
2/10 |
- |
8 |
7-44193010-A-T |
c.98T>A |
p.V33E |
Missense |
2/10 |
- |
4 |
7-44193011-C-A |
c.97G>T |
p.V33L |
Missense |
2/10 |
- |
1 |
7-44193011-C-G |
c.97G>C |
p.V33L |
Missense |
2/10 |
- |
1 |
7-44193011-C-T |
c.97G>A |
p.V33M |
Missense |
2/10 |
- |
1 |
7-44193012-C-A |
c.96G>T |
p.K32N |
Missense |
2/10 |
- |
3 |
7-44193012-C-G |
c.96G>C |
p.K32N |
Missense |
2/10 |
- |
3 |
7-44193012-CT-GA |
c.95_96delinsTC |
p.K32I |
Missense |
2/10 |
- |
1 |
7-44193012-CT-GC |
c.95_96delinsGC |
p.K32S |
Missense |
2/10 |
- |
1 |
7-44193012-CTT-AAA |
c.94_96delinsTTT |
p.K32F |
Missense |
2/10 |
- |
1 |
7-44193012-CTT-ACA |
c.94_96delinsTGT |
p.K32C |
Missense |
2/10 |
- |
1 |
7-44193012-CTT-ATA |
c.94_96delinsTAT |
p.K32Y |
Missense |
2/10 |
- |
1 |
7-44193012-CTT-ATG |
c.94_96delinsCAT |
p.K32H |
Missense |
2/10 |
- |
1 |
7-44193012-CTT-GTC |
c.94_96delinsGAC |
p.K32D |
Missense |
2/10 |
- |
1 |
7-44193013-T-A |
c.95A>T |
p.K32M |
Missense |
2/10 |
- |
1 |
7-44193013-T-C |
c.95A>G |
p.K32R |
Missense |
2/10 |
- |
1 |
7-44193013-T-G |
c.95A>C |
p.K32T |
Missense |
2/10 |
- |
1 |
7-44193013-TT-AC |
c.94_95delinsGT |
p.K32V |
Missense |
2/10 |
- |
1 |
7-44193013-TT-AG |
c.94_95delinsCT |
p.K32L |
Missense |
2/10 |
- |
1 |
7-44193013-TT-CA |
c.94_95delinsTG |
p.K32W |
Missense |
2/10 |
- |
1 |
7-44193013-TT-CC |
c.94_95delinsGG |
p.K32G |
Missense |
2/10 |
- |
1 |
7-44193013-TT-GC |
c.94_95delinsGC |
p.K32A |
Missense |
2/10 |
- |
1 |
7-44193013-TT-GG |
c.94_95delinsCC |
p.K32P |
Missense |
2/10 |
- |
1 |
7-44193014-T-C |
c.94A>G |
p.K32E |
Missense |
2/10 |
- |
3 |
7-44193014-T-G |
c.94A>C |
p.K32Q |
Missense |
2/10 |
- |
1 |
7-44193015-C-A |
c.93G>T |
p.K31N |
Missense |
2/10 |
- |
3 |
7-44193015-C-G |
c.93G>C |
p.K31N |
Missense |
2/10 |
- |
3 |
7-44193015-C-T |
c.93G>A |
p.K31= |
Synonymous |
2/10 |
- |
1 |
7-44193015-CT-GA |
c.92_93delinsTC |
p.K31I |
Missense |
2/10 |
- |
1 |
7-44193015-CT-GC |
c.92_93delinsGC |
p.K31S |
Missense |
2/10 |
- |
1 |
7-44193015-CTT-AAA |
c.91_93delinsTTT |
p.K31F |
Missense |
2/10 |
- |
1 |
7-44193015-CTT-ACA |
c.91_93delinsTGT |
p.K31C |
Missense |
2/10 |
- |
1 |
7-44193015-CTT-ATA |
c.91_93delinsTAT |
p.K31Y |
Missense |
2/10 |
- |
1 |
7-44193015-CTT-ATG |
c.91_93delinsCAT |
p.K31H |
Missense |
2/10 |
- |
1 |
7-44193015-CTT-GTC |
c.91_93delinsGAC |
p.K31D |
Missense |
2/10 |
- |
1 |
7-44193011-CCTT-C |
c.94_96del |
p.K32del |
InFrameDeletion |
2/10 |
- |
2 |
7-44193016-T-A |
c.92A>T |
p.K31M |
Missense |
2/10 |
- |
1 |
7-44193016-T-C |
c.92A>G |
p.K31R |
Missense |
2/10 |
- |
1 |
7-44193016-T-G |
c.92A>C |
p.K31T |
Missense |
2/10 |
- |
1 |
7-44193016-TT-AC |
c.91_92delinsGT |
p.K31V |
Missense |
2/10 |
- |
1 |
7-44193016-TT-AG |
c.91_92delinsCT |
p.K31L |
Missense |
2/10 |
- |
1 |
7-44193016-TT-CA |
c.91_92delinsTG |
p.K31W |
Missense |
2/10 |
- |
1 |
7-44193016-TT-CC |
c.91_92delinsGG |
p.K31G |
Missense |
2/10 |
- |
1 |
7-44193016-TT-GC |
c.91_92delinsGC |
p.K31A |
Missense |
2/10 |
- |
1 |
7-44193016-TT-GG |
c.91_92delinsCC |
p.K31P |
Missense |
2/10 |
- |
1 |
7-44193017-T-C |
c.91A>G |
p.K31E |
Missense |
2/10 |
- |
1 |
7-44193017-T-G |
c.91A>C |
p.K31Q |
Missense |
2/10 |
- |
1 |
7-44193018-C-A |
c.90G>T |
p.L30= |
Synonymous |
2/10 |
- |
2 |
7-44193018-CA-AT |
c.89_90delinsAT |
p.L30H |
Missense |
2/10 |
- |
1 |
7-44193018-CAG-AAA |
c.88_90delinsTTT |
p.L30F |
Missense |
2/10 |
- |
1 |
7-44193018-CAG-ACA |
c.88_90delinsTGT |
p.L30C |
Missense |
2/10 |
- |
1 |
7-44193018-CAG-ATA |
c.88_90delinsTAT |
p.L30Y |
Missense |
2/10 |
- |
1 |
7-44193018-CAG-GAT |
c.88_90delinsATC |
p.L30I |
Missense |
2/10 |
- |
1 |
7-44193018-CAG-GTC |
c.88_90delinsGAC |
p.L30D |
Missense |
2/10 |
- |
1 |
7-44193018-CAG-GTT |
c.88_90delinsAAC |
p.L30N |
Missense |
2/10 |
- |
1 |
7-44193018-C-G |
c.90G>C |
p.L30= |
Synonymous |
2/10 |
- |
2 |
7-44193018-C-T |
c.90G>A |
p.L30= |
Synonymous |
2/10 |
- |
4 |
7-44193020-G-A |
c.88C>T |
p.L30= |
Synonymous |
2/10 |
- |
2 |
7-44193019-A-C |
c.89T>G |
p.L30R |
Missense |
2/10 |
- |
1 |
7-44193019-A-G |
c.89T>C |
p.L30P |
Missense |
2/10 |
- |
8 |
7-44193019-AG-CA |
c.88_89delinsTG |
p.L30W |
Missense |
2/10 |
- |
1 |
7-44193019-AG-CC |
c.88_89delinsGG |
p.L30G |
Missense |
2/10 |
- |
1 |
7-44193019-AG-GA |
c.88_89delinsTC |
p.L30S |
Missense |
2/10 |
- |
1 |
7-44193019-AG-GC |
c.88_89delinsGC |
p.L30A |
Missense |
2/10 |
- |
1 |
7-44193019-AG-GT |
c.88_89delinsAC |
p.L30T |
Missense |
2/10 |
- |
1 |
7-44193019-AG-TC |
c.88_89delinsGA |
p.L30E |
Missense |
2/10 |
- |
1 |
7-44193019-AG-TT |
c.88_89delinsAA |
p.L30K |
Missense |
2/10 |
- |
1 |
7-44193019-A-T |
c.89T>A |
p.L30Q |
Missense |
2/10 |
- |
1 |
7-44193020-G-C |
c.88C>G |
p.L30V |
Missense |
2/10 |
- |
1 |
7-44193020-G-T |
c.88C>A |
p.L30M |
Missense |
2/10 |
- |
1 |
7-44193021-G-C |
c.87C>G |
p.D29E |
Missense |
2/10 |
- |
1 |
7-44193021-G-T |
c.87C>A |
p.D29E |
Missense |
2/10 |
- |
1 |
7-44193021-GTC-CAT |
c.85_87delinsATG |
p.D29M |
Missense |
2/10 |
- |
1 |
7-44193021-GTC-CCA |
c.85_87delinsTGG |
p.D29W |
Missense |
2/10 |
- |
1 |
7-44193021-GTC-CTT |
c.85_87delinsAAG |
p.D29K |
Missense |
2/10 |
- |
1 |
7-44193021-GTC-TTG |
c.85_87delinsCAA |
p.D29Q |
Missense |
2/10 |
- |
1 |
7-44193022-T-A |
c.86A>T |
p.D29V |
Missense |
2/10 |
- |
2 |
7-44193022-T-C |
c.86A>G |
p.D29G |
Missense |
2/10 |
- |
1 |
7-44193022-TC-AA |
c.85_86delinsTT |
p.D29F |
Missense |
2/10 |
- |
1 |
7-44193022-TC-AG |
c.85_86delinsCT |
p.D29L |
Missense |
2/10 |
- |
1 |
7-44193022-TC-AT |
c.85_86delinsAT |
p.D29I |
Missense |
2/10 |
- |
1 |
7-44193022-TC-CA |
c.85_86delinsTG |
p.D29C |
Missense |
2/10 |
- |
1 |
7-44193022-TC-CG |
c.85_86delinsCG |
p.D29R |
Missense |
2/10 |
- |
1 |
7-44193022-TC-CT |
c.85_86delinsAG |
p.D29S |
Missense |
2/10 |
- |
1 |
7-44193022-TC-GG |
c.85_86delinsCC |
p.D29P |
Missense |
2/10 |
- |
1 |
7-44193022-TC-GT |
c.85_86delinsAC |
p.D29T |
Missense |
2/10 |
- |
1 |
7-44193022-T-G |
c.86A>C |
p.D29A |
Missense |
2/10 |
- |
1 |
7-44193023-C-A |
c.85G>T |
p.D29Y |
Missense |
2/10 |
- |
1 |
7-44193023-C-G |
c.85G>C |
p.D29H |
Missense |
2/10 |
- |
1 |
7-44193023-C-T |
c.85G>A |
p.D29N |
Missense |
2/10 |
- |
1 |
7-44193024-C-A |
c.84G>T |
p.E28D |
Missense |
2/10 |
- |
1 |
7-44193024-C-G |
c.84G>C |
p.E28D |
Missense |
2/10 |
- |
1 |
7-44193024-C-T |
c.84G>A |
p.E28= |
Synonymous |
2/10 |
- |
1 |
7-44193024-CTC-AAA |
c.82_84delinsTTT |
p.E28F |
Missense |
2/10 |
- |
1 |
7-44193024-CTC-ACA |
c.82_84delinsTGT |
p.E28C |
Missense |
2/10 |
- |
1 |
7-44193024-CTC-ATA |
c.82_84delinsTAT |
p.E28Y |
Missense |
2/10 |
- |
1 |
7-44193024-CTC-ATG |
c.82_84delinsCAT |
p.E28H |
Missense |
2/10 |
- |
1 |
7-44193024-CTC-GAT |
c.82_84delinsATC |
p.E28I |
Missense |
2/10 |
- |
1 |
7-44193024-CTC-GTT |
c.82_84delinsAAC |
p.E28N |
Missense |
2/10 |
- |
1 |
7-44193025-CT-C |
c.83del |
p.E28Gfs*3 |
Frameshift |
2/10 |
- |
2 |
7-44193025-T-A |
c.83A>T |
p.E28V |
Missense |
2/10 |
- |
1 |
7-44193025-T-C |
c.83A>G |
p.E28G |
Missense |
2/10 |
- |
1 |
7-44193025-TC-AG |
c.82_83delinsCT |
p.E28L |
Missense |
2/10 |
- |
1 |
7-44193025-TC-AT |
c.82_83delinsAT |
p.E28M |
Missense |
2/10 |
- |
1 |
7-44193025-TC-CA |
c.82_83delinsTG |
p.E28W |
Missense |
2/10 |
- |
1 |
7-44193025-TC-CT |
c.82_83delinsAG |
p.E28R |
Missense |
2/10 |
- |
1 |
7-44193025-TC-GA |
c.82_83inv |
p.E28S |
Missense |
2/10 |
- |
1 |
7-44193025-TC-GG |
c.82_83delinsCC |
p.E28P |
Missense |
2/10 |
- |
1 |
7-44193025-TC-GT |
c.82_83delinsAC |
p.E28T |
Missense |
2/10 |
- |
1 |
7-44193025-T-G |
c.83A>C |
p.E28A |
Missense |
2/10 |
- |
2 |
7-44193026-C-A |
c.82G>T |
p.E28* |
Nonsense |
2/10 |
- |
1 |
7-44193026-C-G |
c.82G>C |
p.E28Q |
Missense |
2/10 |
- |
1 |
7-44193026-C-T |
c.82G>A |
p.E28K |
Missense |
2/10 |
- |
5 |
7-44193027-C-A |
c.81G>T |
p.E27D |
Missense |
2/10 |
- |
1 |
7-44193027-C-G |
c.81G>C |
p.E27D |
Missense |
2/10 |
- |
1 |
7-44193027-CTC-AAA |
c.79_81delinsTTT |
p.E27F |
Missense |
2/10 |
- |
1 |
7-44193027-CTC-ACA |
c.79_81delinsTGT |
p.E27C |
Missense |
2/10 |
- |
1 |
7-44193027-CTC-ATA |
c.79_81delinsTAT |
p.E27Y |
Missense |
2/10 |
- |
1 |
7-44193027-CTC-ATG |
c.79_81delinsCAT |
p.E27H |
Missense |
2/10 |
- |
1 |
7-44193027-CTC-GAT |
c.79_81delinsATC |
p.E27I |
Missense |
2/10 |
- |
1 |
7-44193027-CTC-GTT |
c.79_81delinsAAC |
p.E27N |
Missense |
2/10 |
- |
1 |
7-44193028-CT-C |
c.80del |
p.E27Gfs*4 |
Frameshift |
2/10 |
- |
1 |
7-44193028-T-A |
c.80A>T |
p.E27V |
Missense |
2/10 |
- |
1 |
7-44193028-T-C |
c.80A>G |
p.E27G |
Missense |
2/10 |
- |
1 |
7-44193028-TC-AG |
c.79_80delinsCT |
p.E27L |
Missense |
2/10 |
- |
1 |
7-44193028-TC-AT |
c.79_80delinsAT |
p.E27M |
Missense |
2/10 |
- |
1 |
7-44193028-TC-CA |
c.79_80delinsTG |
p.E27W |
Missense |
2/10 |
- |
1 |
7-44193028-TC-CT |
c.79_80delinsAG |
p.E27R |
Missense |
2/10 |
- |
1 |
7-44193028-TC-GA |
c.79_80inv |
p.E27S |
Missense |
2/10 |
- |
1 |
7-44193028-TC-GG |
c.79_80delinsCC |
p.E27P |
Missense |
2/10 |
- |
1 |
7-44193028-TC-GT |
c.79_80delinsAC |
p.E27T |
Missense |
2/10 |
- |
1 |
7-44193028-T-G |
c.80A>C |
p.E27A |
Missense |
2/10 |
- |
1 |
7-44193029-C-A |
c.79G>T |
p.E27* |
Nonsense |
2/10 |
- |
1 |
7-44193029-C-G |
c.79G>C |
p.E27Q |
Missense |
2/10 |
- |
1 |
7-44193029-C-T |
c.79G>A |
p.E27K |
Missense |
2/10 |
- |
3 |
7-44193030-C-A |
c.78G>T |
p.Q26H |
Missense |
2/10 |
- |
1 |
7-44193030-C-G |
c.78G>C |
p.Q26H |
Missense |
2/10 |
- |
1 |
7-44193030-CTG-AAA |
c.76_78delinsTTT |
p.Q26F |
Missense |
2/10 |
- |
1 |
7-44193030-CTG-ACA |
c.76_78delinsTGT |
p.Q26C |
Missense |
2/10 |
- |
1 |
7-44193030-CTG-ATA |
c.76_78delinsTAT |
p.Q26Y |
Missense |
2/10 |
- |
1 |
7-44193030-CTG-GAT |
c.76_78delinsATC |
p.Q26I |
Missense |
2/10 |
- |
1 |
7-44193030-CTG-GTC |
c.76_78delinsGAC |
p.Q26D |
Missense |
2/10 |
- |
1 |
7-44193030-CTG-GTT |
c.76_78delinsAAC |
p.Q26N |
Missense |
2/10 |
- |
1 |
7-44193031-T-A |
c.77A>T |
p.Q26L |
Missense |
2/10 |
- |
1 |
7-44193031-T-C |
c.77A>G |
p.Q26R |
Missense |
2/10 |
- |
1 |
7-44193031-T-G |
c.77A>C |
p.Q26P |
Missense |
2/10 |
- |
1 |
7-44193031-TG-AC |
c.76_77delinsGT |
p.Q26V |
Missense |
2/10 |
- |
1 |
7-44193031-TG-AT |
c.76_77delinsAT |
p.Q26M |
Missense |
2/10 |
- |
1 |
7-44193031-TG-CA |
c.76_77inv |
p.Q26W |
Missense |
2/10 |
- |
1 |
7-44193031-TG-CC |
c.76_77delinsGG |
p.Q26G |
Missense |
2/10 |
- |
1 |
7-44193031-TG-GA |
c.76_77delinsTC |
p.Q26S |
Missense |
2/10 |
- |
1 |
7-44193031-TG-GC |
c.76_77delinsGC |
p.Q26A |
Missense |
2/10 |
- |
1 |
7-44193031-TG-GT |
c.76_77delinsAC |
p.Q26T |
Missense |
2/10 |
- |
1 |
7-44193032-G-A |
c.76C>T |
p.Q26* |
Nonsense |
2/10 |
- |
6 |
7-44193032-G-C |
c.76C>G |
p.Q26E |
Missense |
2/10 |
- |
1 |
7-44193032-G-T |
c.76C>A |
p.Q26K |
Missense |
2/10 |
- |
1 |
7-44193033-C-A |
c.75G>T |
p.L25= |
Synonymous |
2/10 |
- |
1 |
7-44193033-CA-AT |
c.74_75delinsAT |
p.L25H |
Missense |
2/10 |
- |
1 |
7-44193033-CAG-AAA |
c.73_75delinsTTT |
p.L25F |
Missense |
2/10 |
- |
1 |
7-44193033-CAG-ACA |
c.73_75delinsTGT |
p.L25C |
Missense |
2/10 |
- |
1 |
7-44193033-CAG-ATA |
c.73_75delinsTAT |
p.L25Y |
Missense |
2/10 |
- |
1 |
7-44193033-CAG-GAT |
c.73_75delinsATC |
p.L25I |
Missense |
2/10 |
- |
1 |
7-44193033-CAG-GTC |
c.73_75delinsGAC |
p.L25D |
Missense |
2/10 |
- |
1 |
7-44193033-CAG-GTT |
c.73_75delinsAAC |
p.L25N |
Missense |
2/10 |
- |
1 |
7-44193034-A-C |
c.74T>G |
p.L25R |
Missense |
2/10 |
- |
7 |
7-44193034-A-G |
c.74T>C |
p.L25P |
Missense |
2/10 |
- |
1 |
7-44193034-AG-CA |
c.73_74delinsTG |
p.L25W |
Missense |
2/10 |
- |
1 |
7-44193034-AG-CC |
c.73_74delinsGG |
p.L25G |
Missense |
2/10 |
- |
1 |
7-44193034-AG-GA |
c.73_74delinsTC |
p.L25S |
Missense |
2/10 |
- |
1 |
7-44193034-AG-GC |
c.73_74delinsGC |
p.L25A |
Missense |
2/10 |
- |
1 |
7-44193034-AG-GT |
c.73_74delinsAC |
p.L25T |
Missense |
2/10 |
- |
1 |
7-44193034-AG-TC |
c.73_74delinsGA |
p.L25E |
Missense |
2/10 |
- |
1 |
7-44193034-AG-TT |
c.73_74delinsAA |
p.L25K |
Missense |
2/10 |
- |
1 |
7-44193034-A-T |
c.74T>A |
p.L25Q |
Missense |
2/10 |
- |
2 |
7-44193035-G-C |
c.73C>G |
p.L25V |
Missense |
2/10 |
- |
1 |
7-44193035-G-T |
c.73C>A |
p.L25M |
Missense |
2/10 |
- |
1 |
7-44193036-C-A |
c.72G>T |
p.Q24H |
Missense |
2/10 |
- |
1 |
7-44193036-C-G |
c.72G>C |
p.Q24H |
Missense |
2/10 |
- |
1 |
7-44193036-CTG-AAA |
c.70_72delinsTTT |
p.Q24F |
Missense |
2/10 |
- |
1 |
7-44193036-CTG-ACA |
c.70_72delinsTGT |
p.Q24C |
Missense |
2/10 |
- |
1 |
7-44193036-CTG-ATA |
c.70_72delinsTAT |
p.Q24Y |
Missense |
2/10 |
- |
1 |
7-44193036-CTG-GAT |
c.70_72delinsATC |
p.Q24I |
Missense |
2/10 |
- |
1 |
7-44193036-CTG-GTC |
c.70_72delinsGAC |
p.Q24D |
Missense |
2/10 |
- |
1 |
7-44193036-CTG-GTT |
c.70_72delinsAAC |
p.Q24N |
Missense |
2/10 |
- |
1 |
7-44193037-T-A |
c.71A>T |
p.Q24L |
Missense |
2/10 |
- |
1 |
7-44193037-T-C |
c.71A>G |
p.Q24R |
Missense |
2/10 |
- |
1 |
7-44193037-T-G |
c.71A>C |
p.Q24P |
Missense |
2/10 |
- |
2 |
7-44193037-TG-AC |
c.70_71delinsGT |
p.Q24V |
Missense |
2/10 |
- |
1 |
7-44193037-TG-AT |
c.70_71delinsAT |
p.Q24M |
Missense |
2/10 |
- |
1 |
7-44193037-TG-CA |
c.70_71inv |
p.Q24W |
Missense |
2/10 |
- |
1 |
7-44193037-TG-CC |
c.70_71delinsGG |
p.Q24G |
Missense |
2/10 |
- |
1 |
7-44193037-TG-GA |
c.70_71delinsTC |
p.Q24S |
Missense |
2/10 |
- |
1 |
7-44193037-TG-GC |
c.70_71delinsGC |
p.Q24A |
Missense |
2/10 |
- |
1 |
7-44193037-TG-GT |
c.70_71delinsAC |
p.Q24T |
Missense |
2/10 |
- |
1 |
7-44193038-G-C |
c.70C>G |
p.Q24E |
Missense |
2/10 |
- |
1 |
7-44193038-G-T |
c.70C>A |
p.Q24K |
Missense |
2/10 |
- |
1 |
7-44193039-GAA-CAT |
c.67_69delinsATG |
p.F23M |
Missense |
2/10 |
- |
1 |
7-44193039-GAA-CTC |
c.67_69delinsGAG |
p.F23E |
Missense |
2/10 |
- |
1 |
7-44193039-GAA-CTT |
c.67_69delinsAAG |
p.F23K |
Missense |
2/10 |
- |
1 |
7-44193039-GAA-TTG |
c.67_69delinsCAA |
p.F23Q |
Missense |
2/10 |
- |
1 |
7-44193039-GA-CC |
c.68_69delinsGG |
p.F23W |
Missense |
2/10 |
- |
1 |
7-44193039-GGAA-G |
c.67_69del |
p.F23del |
InFrameDeletion |
2/10 |
- |
1 |
7-44193040-AA-CC |
c.67_68delinsGG |
p.F23G |
Missense |
2/10 |
- |
1 |
7-44193040-AA-CG |
c.67_68delinsCG |
p.F23R |
Missense |
2/10 |
- |
1 |
7-44193040-AA-GC |
c.67_68delinsGC |
p.F23A |
Missense |
2/10 |
- |
1 |
7-44193040-AA-GG |
c.67_68delinsCC |
p.F23P |
Missense |
2/10 |
- |
1 |
7-44193040-AA-GT |
c.67_68delinsAC |
p.F23T |
Missense |
2/10 |
- |
1 |
7-44193040-AA-TC |
c.67_68delinsGA |
p.F23D |
Missense |
2/10 |
- |
1 |
7-44193040-AA-TG |
c.67_68delinsCA |
p.F23H |
Missense |
2/10 |
- |
1 |
7-44193040-AA-TT |
c.67_68inv |
p.F23N |
Missense |
2/10 |
- |
1 |
7-44193040-A-C |
c.68T>G |
p.F23C |
Missense |
2/10 |
- |
1 |
7-44193040-A-G |
c.68T>C |
p.F23S |
Missense |
2/10 |
- |
1 |
7-44193040-A-T |
c.68T>A |
p.F23Y |
Missense |
2/10 |
- |
1 |
7-44193039-G-C |
c.69C>G |
p.F23L |
Missense |
2/10 |
- |
1 |
7-44193039-G-T |
c.69C>A |
p.F23L |
Missense |
2/10 |
- |
1 |
7-44193041-A-C |
c.67T>G |
p.F23V |
Missense |
2/10 |
- |
2 |
7-44193041-A-G |
c.67T>C |
p.F23L |
Missense |
2/10 |
- |
1 |
7-44193041-A-T |
c.67T>A |
p.F23I |
Missense |
2/10 |
- |
1 |
7-44193042-C-A |
c.66G>T |
p.E22D |
Missense |
2/10 |
- |
1 |
7-44193042-C-G |
c.66G>C |
p.E22D |
Missense |
2/10 |
- |
1 |
7-44193042-CTC-AAA |
c.64_66delinsTTT |
p.E22F |
Missense |
2/10 |
- |
1 |
7-44193042-CTC-ACA |
c.64_66delinsTGT |
p.E22C |
Missense |
2/10 |
- |
1 |
7-44193042-CTC-ATA |
c.64_66delinsTAT |
p.E22Y |
Missense |
2/10 |
- |
1 |
7-44193042-CTC-ATG |
c.64_66delinsCAT |
p.E22H |
Missense |
2/10 |
- |
1 |
7-44193042-CTC-GAT |
c.64_66delinsATC |
p.E22I |
Missense |
2/10 |
- |
1 |
7-44193042-CTC-GTT |
c.64_66delinsAAC |
p.E22N |
Missense |
2/10 |
- |
1 |
7-44193043-T-A |
c.65A>T |
p.E22V |
Missense |
2/10 |
- |
1 |
7-44193043-T-C |
c.65A>G |
p.E22G |
Missense |
2/10 |
- |
2 |
7-44193043-TC-AG |
c.64_65delinsCT |
p.E22L |
Missense |
2/10 |
- |
1 |
7-44193043-TC-AT |
c.64_65delinsAT |
p.E22M |
Missense |
2/10 |
- |
1 |
7-44193043-TC-CA |
c.64_65delinsTG |
p.E22W |
Missense |
2/10 |
- |
1 |
7-44193043-TC-CT |
c.64_65delinsAG |
p.E22R |
Missense |
2/10 |
- |
1 |
7-44193043-TC-GA |
c.64_65inv |
p.E22S |
Missense |
2/10 |
- |
1 |
7-44193043-TC-GG |
c.64_65delinsCC |
p.E22P |
Missense |
2/10 |
- |
1 |
7-44193043-TC-GT |
c.64_65delinsAC |
p.E22T |
Missense |
2/10 |
- |
1 |
7-44193043-T-G |
c.65A>C |
p.E22A |
Missense |
2/10 |
- |
1 |
7-44193044-C-G |
c.64G>C |
p.E22Q |
Missense |
2/10 |
- |
2 |
7-44193044-C-T |
c.64G>A |
p.E22K |
Missense |
2/10 |
- |
1 |
7-44193045-T-A |
c.63A>T |
p.A21= |
Synonymous |
2/10 |
- |
1 |
7-44193045-T-C |
c.63A>G |
p.A21= |
Synonymous |
2/10 |
- |
1 |
7-44193045-T-G |
c.63A>C |
p.A21= |
Synonymous |
2/10 |
- |
1 |
7-44193045-TGC-AAA |
c.61_63delinsTTT |
p.A21F |
Missense |
2/10 |
- |
1 |
7-44193045-TGC-ACA |
c.61_63delinsTGT |
p.A21C |
Missense |
2/10 |
- |
1 |
7-44193045-TGC-ATA |
c.61_63delinsTAT |
p.A21Y |
Missense |
2/10 |
- |
1 |
7-44193045-TGC-ATG |
c.61_63delinsCAT |
p.A21H |
Missense |
2/10 |
- |
1 |
7-44193045-TGC-CAT |
c.61_63delinsATG |
p.A21M |
Missense |
2/10 |
- |
1 |
7-44193045-TGC-CCA |
c.61_63delinsTGG |
p.A21W |
Missense |
2/10 |
- |
1 |
7-44193045-TGC-GTT |
c.61_63delinsAAC |
p.A21N |
Missense |
2/10 |
- |
1 |
7-44193045-TG-GT |
c.62_63delinsAC |
p.A21D |
Missense |
2/10 |
- |
1 |
7-44193046-G-A |
c.62C>T |
p.A21V |
Missense |
2/10 |
- |
3 |
7-44193046-G-C |
c.62C>G |
p.A21G |
Missense |
2/10 |
- |
1 |
7-44193046-GC-AG |
c.61_62delinsCT |
p.A21L |
Missense |
2/10 |
- |
1 |
7-44193046-GC-AT |
c.61_62delinsAT |
p.A21I |
Missense |
2/10 |
- |
1 |
7-44193046-GC-CT |
c.61_62delinsAG |
p.A21R |
Missense |
2/10 |
- |
1 |
7-44193046-GC-TG |
c.61_62delinsCA |
p.A21Q |
Missense |
2/10 |
- |
1 |
7-44193046-GC-TT |
c.61_62delinsAA |
p.A21K |
Missense |
2/10 |
- |
1 |
7-44193046-G-T |
c.62C>A |
p.A21E |
Missense |
2/10 |
- |
1 |
7-44193047-C-A |
c.61G>T |
p.A21S |
Missense |
2/10 |
- |
1 |
7-44193047-C-G |
c.61G>C |
p.A21P |
Missense |
2/10 |
- |
1 |
7-44193047-C-T |
c.61G>A |
p.A21T |
Missense |
2/10 |
- |
1 |
7-44193048-C-A |
c.60G>T |
p.L20= |
Synonymous |
2/10 |
- |
1 |
7-44193048-CA-AT |
c.59_60delinsAT |
p.L20H |
Missense |
2/10 |
- |
1 |
7-44193048-CAG-AAA |
c.58_60delinsTTT |
p.L20F |
Missense |
2/10 |
- |
1 |
7-44193048-CAG-ACA |
c.58_60delinsTGT |
p.L20C |
Missense |
2/10 |
- |
1 |
7-44193048-CAG-ATA |
c.58_60delinsTAT |
p.L20Y |
Missense |
2/10 |
- |
1 |
7-44193048-CAG-GAT |
c.58_60delinsATC |
p.L20I |
Missense |
2/10 |
- |
1 |
7-44193048-CAG-GTC |
c.58_60delinsGAC |
p.L20D |
Missense |
2/10 |
- |
1 |
7-44193048-CAG-GTT |
c.58_60delinsAAC |
p.L20N |
Missense |
2/10 |
- |
1 |
7-44193048-C-G |
c.60G>C |
p.L20= |
Synonymous |
2/10 |
- |
1 |
7-44193048-C-T |
c.60G>A |
p.L20= |
Synonymous |
2/10 |
- |
1 |
7-44193050-G-A |
c.58C>T |
p.L20= |
Synonymous |
2/10 |
- |
1 |
7-44193049-A-C |
c.59T>G |
p.L20R |
Missense |
2/10 |
- |
1 |
7-44193049-A-G |
c.59T>C |
p.L20P |
Missense |
2/10 |
- |
4 |
7-44193049-AG-CA |
c.58_59delinsTG |
p.L20W |
Missense |
2/10 |
- |
1 |
7-44193049-AG-CC |
c.58_59delinsGG |
p.L20G |
Missense |
2/10 |
- |
1 |
7-44193049-AG-GA |
c.58_59delinsTC |
p.L20S |
Missense |
2/10 |
- |
1 |
7-44193049-AG-GC |
c.58_59delinsGC |
p.L20A |
Missense |
2/10 |
- |
1 |
7-44193049-AG-GT |
c.58_59delinsAC |
p.L20T |
Missense |
2/10 |
- |
1 |
7-44193049-AG-TC |
c.58_59delinsGA |
p.L20E |
Missense |
2/10 |
- |
1 |
7-44193049-AG-TT |
c.58_59delinsAA |
p.L20K |
Missense |
2/10 |
- |
1 |
7-44193049-A-T |
c.59T>A |
p.L20Q |
Missense |
2/10 |
- |
1 |
7-44193050-G-C |
c.58C>G |
p.L20V |
Missense |
2/10 |
- |
1 |
7-44193050-G-T |
c.58C>A |
p.L20M |
Missense |
2/10 |
- |
1 |
7-44193051-GA-CC |
c.56_57delinsGG |
p.I19R |
Missense |
2/10 |
- |
1 |
7-44193051-GA-CT |
c.56_57delinsAG |
p.I19K |
Missense |
2/10 |
- |
1 |
7-44193051-GAT-CCA |
c.55_57delinsTGG |
p.I19W |
Missense |
2/10 |
- |
1 |
7-44193051-GAT-CTC |
c.55_57delinsGAG |
p.I19E |
Missense |
2/10 |
- |
1 |
7-44193051-GAT-TTG |
c.55_57delinsCAA |
p.I19Q |
Missense |
2/10 |
- |
1 |
7-44193051-G-C |
c.57C>G |
p.I19M |
Missense |
2/10 |
- |
5 |
7-44193051-G-T |
c.57C>A |
p.I19= |
Synonymous |
2/10 |
- |
1 |
7-44193052-A-C |
c.56T>G |
p.I19S |
Missense |
2/10 |
- |
1 |
7-44193052-A-G |
c.56T>C |
p.I19T |
Missense |
2/10 |
- |
2 |
7-44193052-A-T |
c.56T>A |
p.I19N |
Missense |
2/10 |
- |
4 |
7-44193052-AT-CA |
c.55_56delinsTG |
p.I19C |
Missense |
2/10 |
- |
1 |
7-44193052-AT-CC |
c.55_56delinsGG |
p.I19G |
Missense |
2/10 |
- |
1 |
7-44193052-AT-GC |
c.55_56delinsGC |
p.I19A |
Missense |
2/10 |
- |
1 |
7-44193052-AT-GG |
c.55_56delinsCC |
p.I19P |
Missense |
2/10 |
- |
1 |
7-44193052-AT-TA |
c.55_56delinsTA |
p.I19Y |
Missense |
2/10 |
- |
1 |
7-44193052-AT-TC |
c.55_56delinsGA |
p.I19D |
Missense |
2/10 |
- |
1 |
7-44193052-AT-TG |
c.55_56delinsCA |
p.I19H |
Missense |
2/10 |
- |
1 |
7-44193053-T-A |
c.55A>T |
p.I19F |
Missense |
2/10 |
- |
1 |
7-44193053-T-C |
c.55A>G |
p.I19V |
Missense |
2/10 |
- |
3 |
7-44193053-T-G |
c.55A>C |
p.I19L |
Missense |
2/10 |
- |
1 |
7-44193054-C-A |
c.54G>T |
p.Q18H |
Missense |
2/10 |
- |
1 |
7-44193054-C-G |
c.54G>C |
p.Q18H |
Missense |
2/10 |
- |
1 |
7-44193054-CTG-AAA |
c.52_54delinsTTT |
p.Q18F |
Missense |
2/10 |
- |
1 |
7-44193054-CTG-ACA |
c.52_54delinsTGT |
p.Q18C |
Missense |
2/10 |
- |
1 |
7-44193054-CTG-ATA |
c.52_54delinsTAT |
p.Q18Y |
Missense |
2/10 |
- |
1 |
7-44193054-CTG-GAT |
c.52_54delinsATC |
p.Q18I |
Missense |
2/10 |
- |
1 |
7-44193054-CTG-GTC |
c.52_54delinsGAC |
p.Q18D |
Missense |
2/10 |
- |
1 |
7-44193054-CTG-GTT |
c.52_54delinsAAC |
p.Q18N |
Missense |
2/10 |
- |
1 |
7-44193055-T-A |
c.53A>T |
p.Q18L |
Missense |
2/10 |
- |
1 |
7-44193055-T-C |
c.53A>G |
p.Q18R |
Missense |
2/10 |
- |
2 |
7-44193055-T-G |
c.53A>C |
p.Q18P |
Missense |
2/10 |
- |
1 |
7-44193055-TG-AC |
c.52_53delinsGT |
p.Q18V |
Missense |
2/10 |
- |
1 |
7-44193055-TG-AT |
c.52_53delinsAT |
p.Q18M |
Missense |
2/10 |
- |
1 |
7-44193055-TG-CA |
c.52_53inv |
p.Q18W |
Missense |
2/10 |
- |
1 |
7-44193055-TG-CC |
c.52_53delinsGG |
p.Q18G |
Missense |
2/10 |
- |
1 |
7-44193055-TG-GA |
c.52_53delinsTC |
p.Q18S |
Missense |
2/10 |
- |
1 |
7-44193055-TG-GC |
c.52_53delinsGC |
p.Q18A |
Missense |
2/10 |
- |
1 |
7-44193055-TG-GT |
c.52_53delinsAC |
p.Q18T |
Missense |
2/10 |
- |
1 |
7-44193056-G-C |
c.52C>G |
p.Q18E |
Missense |
2/10 |
- |
1 |
7-44193056-G-T |
c.52C>A |
p.Q18K |
Missense |
2/10 |
- |
1 |
7-44193057-C-A |
c.51G>T |
p.E17D |
Missense |
2/10 |
- |
1 |
7-44193057-C-G |
c.51G>C |
p.E17D |
Missense |
2/10 |
- |
1 |
7-44193057-CTC-AAA |
c.49_51delinsTTT |
p.E17F |
Missense |
2/10 |
- |
1 |
7-44193057-CTC-ACA |
c.49_51delinsTGT |
p.E17C |
Missense |
2/10 |
- |
1 |
7-44193057-CTC-ATA |
c.49_51delinsTAT |
p.E17Y |
Missense |
2/10 |
- |
1 |
7-44193057-CTC-ATG |
c.49_51delinsCAT |
p.E17H |
Missense |
2/10 |
- |
2 |
7-44193057-CTC-GAT |
c.49_51delinsATC |
p.E17I |
Missense |
2/10 |
- |
1 |
7-44193057-CTC-GTT |
c.49_51delinsAAC |
p.E17N |
Missense |
2/10 |
- |
1 |
7-44193058-CTCT-C |
c.48_50del |
p.E17del |
InFrameDeletion |
2/10 |
- |
1 |
7-44193058-T-A |
c.50A>T |
p.E17V |
Missense |
2/10 |
- |
1 |
7-44193058-T-C |
c.50A>G |
p.E17G |
Missense |
2/10 |
- |
3 |
7-44193058-TC-AG |
c.49_50delinsCT |
p.E17L |
Missense |
2/10 |
- |
1 |
7-44193058-TC-AT |
c.49_50delinsAT |
p.E17M |
Missense |
2/10 |
- |
1 |
7-44193058-TC-CA |
c.49_50delinsTG |
p.E17W |
Missense |
2/10 |
- |
1 |
7-44193058-TC-CT |
c.49_50delinsAG |
p.E17R |
Missense |
2/10 |
- |
1 |
7-44193058-TC-GA |
c.49_50inv |
p.E17S |
Missense |
2/10 |
- |
1 |
7-44193058-TC-GG |
c.49_50delinsCC |
p.E17P |
Missense |
2/10 |
- |
1 |
7-44193058-TC-GT |
c.49_50delinsAC |
p.E17T |
Missense |
2/10 |
- |
1 |
7-44193058-T-G |
c.50A>C |
p.E17A |
Missense |
2/10 |
- |
1 |
7-44193059-C-G |
c.49G>C |
p.E17Q |
Missense |
2/10 |
- |
2 |
7-44193059-C-T |
c.49G>A |
p.E17K |
Missense |
2/10 |
- |
1 |
7-44193060-TAC-AAA |
c.46_48delinsTTT |
p.V16F |
Missense |
2/10 |
- |
1 |
7-44193060-TAC-ACA |
c.46_48delinsTGT |
p.V16C |
Missense |
2/10 |
- |
1 |
7-44193060-TAC-ATA |
c.46_48delinsTAT |
p.V16Y |
Missense |
2/10 |
- |
1 |
7-44193060-TAC-ATG |
c.46_48delinsCAT |
p.V16H |
Missense |
2/10 |
- |
1 |
7-44193060-TAC-CAT |
c.46_48delinsATG |
p.V16M |
Missense |
2/10 |
- |
1 |
7-44193060-TAC-CCA |
c.46_48delinsTGG |
p.V16W |
Missense |
2/10 |
- |
1 |
7-44193060-TAC-GTT |
c.46_48delinsAAC |
p.V16N |
Missense |
2/10 |
- |
1 |
7-44193060-TA-GT |
c.47_48delinsAC |
p.V16D |
Missense |
2/10 |
- |
1 |
7-44193061-A-C |
c.47T>G |
p.V16G |
Missense |
2/10 |
- |
1 |
7-44193061-AC-CT |
c.46_47delinsAG |
p.V16R |
Missense |
2/10 |
- |
1 |
7-44193061-AC-GA |
c.46_47delinsTC |
p.V16S |
Missense |
2/10 |
- |
1 |
7-44193061-AC-GG |
c.46_47delinsCC |
p.V16P |
Missense |
2/10 |
- |
1 |
7-44193061-AC-GT |
c.46_47inv |
p.V16T |
Missense |
2/10 |
- |
1 |
7-44193061-AC-TG |
c.46_47delinsCA |
p.V16Q |
Missense |
2/10 |
- |
1 |
7-44193061-AC-TT |
c.46_47delinsAA |
p.V16K |
Missense |
2/10 |
- |
1 |
7-44193061-A-G |
c.47T>C |
p.V16A |
Missense |
2/10 |
- |
1 |
7-44193061-A-T |
c.47T>A |
p.V16E |
Missense |
2/10 |
- |
2 |
7-44193062-C-A |
c.46G>T |
p.V16L |
Missense |
2/10 |
- |
1 |
7-44193062-C-G |
c.46G>C |
p.V16L |
Missense |
2/10 |
- |
1 |
7-44193062-C-T |
c.46G>A |
p.V16I |
Missense |
2/10 |
- |
1 |
7-44193079-A-T |
c.46-17T>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44193404-C-T |
c.46-342G>A |
- |
IntronicSNV |
- |
1/9 |
4 |
7-44193462-G-T |
c.46-400C>A |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44194482-G-A |
c.46-1420C>T |
- |
IntronicSNV |
- |
1/9 |
8 |
7-44194523-T-G |
c.46-1461A>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44194551-G-A |
c.46-1489C>T |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44194551-G-C |
c.46-1489C>G |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44194838-C-A |
c.46-1776G>T |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44196069-C-T |
c.46-3007G>A |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44197528-G-A |
c.46-4466C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44197583-G-T |
c.46-4521C>A |
- |
IntronicSNV |
- |
1/9 |
6 |
7-44197710-G-A |
c.46-4648C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44197775-C-T |
c.46-4713G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44198660-T-A |
c.46-5598A>T |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44198685-G-C |
c.46-5623C>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44198685-G-T |
c.46-5623C>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44198700-C-A |
c.46-5638G>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44198715-G-A |
c.46-5653C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44198726-G-A |
c.46-5664C>T |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44198763-G-A |
c.46-5701C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44198961-G-GC |
c.46-5900dup |
- |
IntronicInsertion |
- |
1/9 |
1 |
7-44198967-T-TGG |
c.46-5907_46-5906dup |
- |
IntronicInsertion |
- |
1/9 |
1 |
7-44198967-T-TG |
c.46-5906dup |
- |
IntronicInsertion |
- |
1/9 |
1 |
7-44199012-C-T |
c.46-5950G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44199142-C-T |
c.46-6080G>A |
- |
IntronicSNV |
- |
1/9 |
5 |
7-44200099-G-A |
c.46-7037C>T |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44200099-G-T |
c.46-7037C>A |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44200483-A-G |
c.46-7421T>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44200884-T-C |
c.46-7822A>G |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44202094-G-C |
c.46-9032C>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44203006-C-T |
c.46-9944G>A |
- |
IntronicSNV |
- |
1/9 |
5 |
7-44203734-T-C |
c.46-10672A>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44203912-A-G |
c.46-10850T>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44203912-A-T |
c.46-10850T>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44204322-G-A |
c.46-11260C>T |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44204361-G-A |
c.46-11299C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44204361-G-C |
c.46-11299C>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44204426-C-T |
c.46-11364G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44204994-G-A |
c.46-11932C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44205514-A-G |
c.46-12452T>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44205514-A-T |
c.46-12452T>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44205605-G-A |
c.46-12543C>T |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44205605-G-C |
c.46-12543C>G |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44205906-A-C |
c.46-12844T>G |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44206824-T-C |
c.46-13762A>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44207494-T-C |
c.46-14432A>G |
- |
IntronicSNV |
- |
1/9 |
7 |
7-44207888-G-C |
c.46-14826C>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44208047-C-T |
c.46-14985G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44209322-G-A |
c.46-16260C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44209984-G-A |
c.46-16922C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44209984-G-C |
c.46-16922C>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44210710-C-G |
c.46-17648G>C |
- |
IntronicSNV |
- |
1/9 |
4 |
7-44210710-C-T |
c.46-17648G>A |
- |
IntronicSNV |
- |
1/9 |
4 |
7-44211337-T-C |
c.45+17171A>G |
- |
IntronicSNV |
- |
1/9 |
7 |
7-44211407-T-C |
c.45+17101A>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44213222-A-T |
c.45+15286T>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44214163-T-C |
c.45+14345A>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44214164-C-T |
c.45+14344G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44214514-T-C |
c.45+13994A>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44216112-G-A |
c.45+12396C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44216137-G-A |
c.45+12371C>T |
- |
IntronicSNV |
- |
1/9 |
12 |
7-44216280-G-A |
c.45+12228C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44216546-G-A |
c.45+11962C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44216546-G-T |
c.45+11962C>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44216598-T-C |
c.45+11910A>G |
- |
IntronicSNV |
- |
1/9 |
5 |
7-44216754-C-T |
c.45+11754G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44217126-C-T |
c.45+11382G>A |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44218794-T-C |
c.45+9714A>G |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44218856-G-A |
c.45+9652C>T |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44218896-C-T |
c.45+9612G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44219074-T-C |
c.45+9434A>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44219124-T-A |
c.45+9384A>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44219338-A-G |
c.45+9170T>C |
- |
IntronicSNV |
- |
1/9 |
4 |
7-44219338-A-T |
c.45+9170T>A |
- |
IntronicSNV |
- |
1/9 |
4 |
7-44219705-T-C |
c.45+8803A>G |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44219742-C-A |
c.45+8766G>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44220684-C-T |
c.45+7824G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44220919-C-A |
c.45+7589G>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44220919-C-T |
c.45+7589G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44221295-G-A |
c.45+7213C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44221302-A-G |
c.45+7206T>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44221581-A-C |
c.45+6927T>G |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44221581-A-T |
c.45+6927T>A |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44222003-G-T |
c.45+6505C>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44222220-C-G |
c.45+6288G>C |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44222225-G-A |
c.45+6283C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44222225-G-C |
c.45+6283C>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44222225-G-T |
c.45+6283C>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44222471-A-C |
c.45+6037T>G |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44222471-A-G |
c.45+6037T>C |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44222802-C-T |
c.45+5706G>A |
- |
IntronicSNV |
- |
1/9 |
6 |
7-44223292-T-TA |
c.45+5215_45+5216insT |
- |
IntronicInsertion |
- |
1/9 |
1 |
7-44223293-G-A |
c.45+5215C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44223295-G-A |
c.45+5213C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44223295-G-C |
c.45+5213C>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44223295-G-T |
c.45+5213C>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44223479-G-A |
c.45+5029C>T |
- |
IntronicSNV |
- |
1/9 |
8 |
7-44223479-G-C |
c.45+5029C>G |
- |
IntronicSNV |
- |
1/9 |
8 |
7-44223721-G-A |
c.45+4787C>T |
- |
IntronicSNV |
- |
1/9 |
22 |
7-44223942-G-A |
c.45+4566C>T |
- |
IntronicSNV |
- |
1/9 |
14 |
7-44224098-C-T |
c.45+4410G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44224851-G-A |
c.45+3657C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44224892-A-T |
c.45+3616T>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44225829-A-G |
c.45+2679T>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44226101-C-A |
c.45+2407G>T |
- |
IntronicSNV |
- |
1/9 |
5 |
7-44226101-C-T |
c.45+2407G>A |
- |
IntronicSNV |
- |
1/9 |
5 |
7-44226688-C-G |
c.45+1820G>C |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44226688-C-T |
c.45+1820G>A |
- |
IntronicSNV |
- |
1/9 |
2 |
7-44226713-G-A |
c.45+1795C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44227020-G-T |
c.45+1488C>A |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44227285-A-C |
c.45+1223T>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228263-C-T |
c.45+245G>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228270-C-G |
c.45+238G>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228313-G-A |
c.45+195C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228318-G-A |
c.45+190C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228336-G-C |
c.45+172C>G |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228344-G-T |
c.45+164C>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228375-C-A |
c.45+133G>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228453-A-G |
c.45+55T>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228492-A-G |
c.45+16T>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228494-G-A |
c.45+14C>T |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228504-A-T |
c.45+4T>A |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228505-T-C |
c.45+3A>G |
- |
IntronicSNV |
- |
1/9 |
3 |
7-44228507-C-A |
c.45+1G>T |
- |
IntronicSNV |
- |
1/9 |
4 |
7-44228507-C-G |
c.45+1G>C |
- |
IntronicSNV |
- |
1/9 |
1 |
7-44228508-C-T |
c.45G>A |
p.K15= |
Synonymous |
1/10 |
- |
1 |
7-44228509-T-C |
c.44A>G |
p.K15R |
Missense |
1/10 |
- |
1 |
7-44228511-C-T |
c.42G>A |
p.E14= |
Synonymous |
1/10 |
- |
1 |
7-44228513-C-T |
c.40G>A |
p.E14K |
Missense |
1/10 |
- |
5 |
7-44228515-T-C |
c.38A>G |
p.K13R |
Missense |
1/10 |
- |
1 |
7-44228516-T-A |
c.37A>T |
p.K13* |
Nonsense |
1/10 |
- |
1 |
7-44228513-CCTT-C |
c.37_39del |
p.K13del |
InFrameDeletion |
1/10 |
- |
1 |
7-44228518-T-C |
c.35A>G |
p.K12R |
Missense |
1/10 |
- |
2 |
7-44228519-T-C |
c.34A>G |
p.K12E |
Missense |
1/10 |
- |
1 |
7-44228520-G-A |
c.33C>T |
p.A11= |
Synonymous |
1/10 |
- |
1 |
7-44228520-G-C |
c.33C>G |
p.A11= |
Synonymous |
1/10 |
- |
1 |
7-44228520-GG-CT |
c.32_33delinsAG |
p.A11E |
Missense |
1/10 |
- |
1 |
7-44228520-G-T |
c.33C>A |
p.A11= |
Synonymous |
1/10 |
- |
1 |
7-44228521-G-C |
c.32C>G |
p.A11G |
Missense |
1/10 |
- |
1 |
7-44228521-GC-TG |
c.31_32delinsCA |
p.A11H |
Missense |
1/10 |
- |
1 |
7-44228522-C-G |
c.31G>C |
p.A11P |
Missense |
1/10 |
- |
1 |
7-44228522-C-T |
c.31G>A |
p.A11T |
Missense |
1/10 |
- |
12 |
7-44228523-G-A |
c.30C>T |
p.A10= |
Synonymous |
1/10 |
- |
1 |
7-44228523-G-C |
c.30C>G |
p.A10= |
Synonymous |
1/10 |
- |
1 |
7-44228523-GGC-CCA |
c.28_30delinsTGG |
p.A10W |
Missense |
1/10 |
- |
1 |
7-44228523-G-T |
c.30C>A |
p.A10= |
Synonymous |
1/10 |
- |
2 |
7-44228522-CG-C |
c.30del |
p.A11Pfs*6 |
Frameshift |
1/10 |
- |
1 |
7-44228524-G-A |
c.29C>T |
p.A10V |
Missense |
1/10 |
- |
4 |
7-44228524-GC-CA |
c.28_29delinsTG |
p.A10C |
Missense |
1/10 |
- |
1 |
7-44228524-GC-CG |
c.28_29delinsCG |
p.A10R |
Missense |
1/10 |
- |
1 |
7-44228524-GC-TA |
c.28_29delinsTA |
p.A10Y |
Missense |
1/10 |
- |
1 |
7-44228525-C-T |
c.28G>A |
p.A10T |
Missense |
1/10 |
- |
4 |
7-44228528-C-T |
c.25G>A |
p.E9K |
Missense |
1/10 |
- |
4 |
7-44228527-TC-T |
c.25del |
p.E9Rfs*8 |
Frameshift |
1/10 |
- |
1 |
7-44228531-T-C |
c.22A>G |
p.M8V |
Missense |
1/10 |
- |
1 |
7-44228532-C-T |
c.21G>A |
p.R7= |
Synonymous |
1/10 |
- |
1 |
7-44228534-T-G |
c.19A>C |
p.R7= |
Synonymous |
1/10 |
- |
1 |
7-44228533-C-T |
c.20G>A |
p.R7K |
Missense |
1/10 |
- |
1 |
7-44228534-T-C |
c.19A>G |
p.R7G |
Missense |
1/10 |
- |
1 |
7-44228536-G-A |
c.17C>T |
p.A6V |
Missense |
1/10 |
- |
1 |
7-44228538-T-C |
c.15A>G |
p.R5= |
Synonymous |
1/10 |
- |
1 |
7-44228540-T-G |
c.13A>C |
p.R5= |
Synonymous |
1/10 |
- |
1 |
7-44228539-C-T |
c.14G>A |
p.R5K |
Missense |
1/10 |
- |
1 |
7-44228539-CTG-C |
c.12_13del |
p.D4Efs*47 |
Frameshift |
1/10 |
- |
1 |
7-44228543-C-G |
c.10G>C |
p.D4H |
Missense |
1/10 |
- |
1 |
7-44228543-C-T |
c.10G>A |
p.D4N |
Missense |
1/10 |
- |
1 |
7-44228544-G-A |
c.9C>T |
p.D3= |
Synonymous |
1/10 |
- |
1 |
7-44228546-C-A |
c.7G>T |
p.D3Y |
Missense |
1/10 |
- |
2 |
7-44228546-C-T |
c.7G>A |
p.D3N |
Missense |
1/10 |
- |
1 |
7-44228550-C-T |
c.3G>A |
p.M1? |
Missense |
1/10 |
- |
1 |
7-44228552-T-C |
c.1A>G |
p.M1? |
Missense |
1/10 |
- |
1 |
7-44228568-C-A |
c.-16G>T |
- |
5-UTRSNV |
1/10 |
- |
1 |
7-44228568-C-T |
c.-16G>A |
- |
5-UTRSNV |
1/10 |
- |
1 |
7-44228636-G-A |
c.-84C>T |
- |
5-UTRSNV |
1/10 |
- |
6 |
7-44228636-G-C |
c.-84C>G |
- |
5-UTRSNV |
1/10 |
- |
6 |
7-44228767-T-C |
c.-215A>G |
- |
5-UTRSNV |
1/10 |
- |
1 |
7-44229007-T-C |
c.-455A>G |
- |
5-UTRSNV |
1/10 |
- |
1 |