GCK

GCK glucokinase

Annotation transcript: NM_000162.5

9284 unique variant annotations were identified in 960 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
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