GCK

GCK glucokinase

Annotation transcript: NM_000162.5

9284 unique variant annotations were identified in 960 publications

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 Frameshift 8/10 - 1
7-44186130-G-C c.951C>G p.H317Q Missense 8/10 - 4
7-44186130-G-T c.951C>A p.H317Q Missense 8/10 - 1
7-44186130-GTG-CAT c.949_951delinsATG p.H317M Missense 8/10 - 1
7-44186130-GTG-CCA c.949_951delinsTGG p.H317W Missense 8/10 - 1
7-44186130-GTG-CTC c.949_951delinsGAG p.H317E Missense 8/10 - 1
7-44186130-GTG-CTT c.949_951delinsAAG p.H317K Missense 8/10 - 1
7-44186131-T-A c.950A>T p.H317L Missense 8/10 - 1
7-44186131-T-C c.950A>G p.H317R Missense 8/10 - 1
7-44186131-T-G c.950A>C p.H317P Missense 8/10 - 1
7-44186131-TG-AA c.949_950delinsTT p.H317F Missense 8/10 - 1
7-44186131-TG-AC c.949_950delinsGT p.H317V Missense 8/10 - 1
7-44186131-TG-AT c.949_950delinsAT p.H317I Missense 8/10 - 1
7-44186131-TG-CA c.949_950inv p.H317C Missense 8/10 - 1
7-44186131-TG-CC c.949_950delinsGG p.H317G Missense 8/10 - 1
7-44186131-TG-CT c.949_950delinsAG p.H317S Missense 8/10 - 1
7-44186131-TG-GC c.949_950delinsGC p.H317A Missense 8/10 - 1
7-44186131-TG-GT c.949_950delinsAC p.H317T Missense 8/10 - 1
7-44186132-G-A c.949C>T p.H317Y Missense 8/10 - 1
7-44186132-G-C c.949C>G p.H317D Missense 8/10 - 1
7-44186132-G-T c.949C>A p.H317N Missense 8/10 - 1
7-44186133-GAA-CAT c.946_948delinsATG p.F316M Missense 8/10 - 1
7-44186133-GAA-CTC c.946_948delinsGAG p.F316E Missense 8/10 - 1
7-44186133-GAA-CTT c.946_948delinsAAG p.F316K Missense 8/10 - 1
7-44186133-GAA-TTG c.946_948delinsCAA p.F316Q Missense 8/10 - 1
7-44186133-GA-CC c.947_948delinsGG p.F316W Missense 8/10 - 1
7-44186134-AA-CC c.946_947delinsGG p.F316G Missense 8/10 - 1
7-44186134-AA-CG c.946_947delinsCG p.F316R Missense 8/10 - 1
7-44186134-AA-GC c.946_947delinsGC p.F316A Missense 8/10 - 1
7-44186134-AA-GG c.946_947delinsCC p.F316P Missense 8/10 - 1
7-44186134-AA-GT c.946_947delinsAC p.F316T Missense 8/10 - 1
7-44186134-AA-TC c.946_947delinsGA p.F316D Missense 8/10 - 1
7-44186134-AA-TG c.946_947delinsCA p.F316H Missense 8/10 - 1
7-44186134-AA-TT c.946_947inv p.F316N Missense 8/10 - 1
7-44186134-A-C c.947T>G p.F316C Missense 8/10 - 1
7-44186134-A-G c.947T>C p.F316S Missense 8/10 - 1
7-44186134-A-T c.947T>A p.F316Y Missense 8/10 - 4
7-44186133-G-C c.948C>G p.F316L Missense 8/10 - 1
7-44186133-G-T c.948C>A p.F316L Missense 8/10 - 1
7-44186135-A-C c.946T>G p.F316V Missense 8/10 - 3
7-44186135-A-G c.946T>C p.F316L Missense 8/10 - 1
7-44186135-A-T c.946T>A p.F316I Missense 8/10 - 1
7-44186136-GAG-CAT c.943_945delinsATG p.L315M Missense 8/10 - 1
7-44186136-GAG-CCA c.943_945delinsTGG p.L315W Missense 8/10 - 1
7-44186136-GAG-CTC c.943_945inv p.L315E Missense 8/10 - 1
7-44186136-GAG-CTT c.943_945delinsAAG p.L315K Missense 8/10 - 1
7-44186136-GA-TT c.944_945delinsAA p.L315Q Missense 8/10 - 1
7-44186137-A-C c.944T>G p.L315R Missense 8/10 - 1
7-44186137-A-G c.944T>C p.L315P Missense 8/10 - 2
7-44186137-AG-CA c.943_944delinsTG p.L315C Missense 8/10 - 1
7-44186137-AG-CC c.943_944delinsGG p.L315G Missense 8/10 - 1
7-44186137-AG-CT c.943_944inv p.L315S Missense 8/10 - 1
7-44186137-AG-GC c.943_944delinsGC p.L315A Missense 8/10 - 1
7-44186137-AG-GT c.943_944delinsAC p.L315T Missense 8/10 - 1
7-44186137-AG-TA c.943_944delinsTA p.L315Y Missense 8/10 - 1
7-44186137-AG-TC c.943_944delinsGA p.L315D Missense 8/10 - 1
7-44186137-AG-TT c.943_944delinsAA p.L315N Missense 8/10 - 1
7-44186137-A-T c.944T>A p.L315H Missense 8/10 - 8
7-44186138-G-A c.943C>T p.L315F Missense 8/10 - 5
7-44186138-G-C c.943C>G p.L315V Missense 8/10 - 1
7-44186138-G-T c.943C>A p.L315I Missense 8/10 - 1
7-44186139-C-A c.942G>T p.L314= Synonymous 8/10 - 1
7-44186139-CA-AT c.941_942delinsAT p.L314H Missense 8/10 - 2
7-44186139-CAG-AAA c.940_942delinsTTT p.L314F Missense 8/10 - 1
7-44186139-CAG-ACA c.940_942delinsTGT p.L314C Missense 8/10 - 1
7-44186139-CAG-ATA c.940_942delinsTAT p.L314Y Missense 8/10 - 1
7-44186139-CAG-GAT c.940_942delinsATC p.L314I Missense 8/10 - 1
7-44186139-CAG-GTC c.940_942delinsGAC p.L314D Missense 8/10 - 1
7-44186139-CAG-GTT c.940_942delinsAAC p.L314N Missense 8/10 - 1
7-44186139-C-G c.942G>C p.L314= Synonymous 8/10 - 1
7-44186139-C-T c.942G>A p.L314= Synonymous 8/10 - 1
7-44186141-G-A c.940C>T p.L314= Synonymous 8/10 - 1
7-44186140-A-ATTTC c.940_941insGAAA p.L314Rfs*146 Frameshift 8/10 - 1
7-44186140-A-C c.941T>G p.L314R Missense 8/10 - 2
7-44186140-A-G c.941T>C p.L314P Missense 8/10 - 6
7-44186140-AG-CA c.940_941delinsTG p.L314W Missense 8/10 - 1
7-44186140-AG-CC c.940_941delinsGG p.L314G Missense 8/10 - 1
7-44186140-AG-GA c.940_941delinsTC p.L314S Missense 8/10 - 1
7-44186140-AG-GC c.940_941delinsGC p.L314A Missense 8/10 - 1
7-44186140-AG-GT c.940_941delinsAC p.L314T Missense 8/10 - 1
7-44186140-AG-TC c.940_941delinsGA p.L314E Missense 8/10 - 1
7-44186140-AG-TT c.940_941delinsAA p.L314K Missense 8/10 - 1
7-44186140-A-T c.941T>A p.L314Q Missense 8/10 - 2
7-44186141-G-C c.940C>G p.L314V Missense 8/10 - 1
7-44186141-G-T c.940C>A p.L314M Missense 8/10 - 1
7-44186142-G-C c.939C>G p.N313K Missense 8/10 - 1
7-44186142-G-T c.939C>A p.N313K Missense 8/10 - 1
7-44186142-GT-CA c.938_939delinsTG p.N313M Missense 8/10 - 1
7-44186142-GT-CC c.938_939delinsGG p.N313R Missense 8/10 - 1
7-44186142-GTT-CCA c.937_939delinsTGG p.N313W Missense 8/10 - 1
7-44186142-GTT-CTC c.937_939delinsGAG p.N313E Missense 8/10 - 1
7-44186142-GTT-TTG c.937_939delinsCAA p.N313Q Missense 8/10 - 1
7-44186143-T-A c.938A>T p.N313I Missense 8/10 - 1
7-44186143-T-C c.938A>G p.N313S Missense 8/10 - 1
7-44186143-T-G c.938A>C p.N313T Missense 8/10 - 1
7-44186143-TT-AA c.937_938inv p.N313F Missense 8/10 - 1
7-44186143-TT-AC c.937_938delinsGT p.N313V Missense 8/10 - 1
7-44186143-TT-AG c.937_938delinsCT p.N313L Missense 8/10 - 1
7-44186143-TT-CA c.937_938delinsTG p.N313C Missense 8/10 - 1
7-44186143-TT-CC c.937_938delinsGG p.N313G Missense 8/10 - 1
7-44186143-TT-GC c.937_938delinsGC p.N313A Missense 8/10 - 1
7-44186143-TT-GG c.937_938delinsCC p.N313P Missense 8/10 - 1
7-44186144-T-A c.937A>T p.N313Y Missense 8/10 - 3
7-44186144-T-C c.937A>G p.N313D Missense 8/10 - 1
7-44186144-T-G c.937A>C p.N313H Missense 8/10 - 1
7-44186145-T-A c.936A>T p.E312D Missense 8/10 - 1
7-44186145-T-C c.936A>G p.E312= Synonymous 8/10 - 2
7-44186145-T-G c.936A>C p.E312D Missense 8/10 - 1
7-44186145-TTC-AAA c.934_936delinsTTT p.E312F Missense 8/10 - 1
7-44186145-TTC-ACA c.934_936delinsTGT p.E312C Missense 8/10 - 1
7-44186145-TTC-ATA c.934_936delinsTAT p.E312Y Missense 8/10 - 1
7-44186145-TTC-ATG c.934_936delinsCAT p.E312H Missense 8/10 - 1
7-44186145-TTC-CAT c.934_936delinsATG p.E312M Missense 8/10 - 1
7-44186145-TTC-CCA c.934_936delinsTGG p.E312W Missense 8/10 - 1
7-44186145-TTC-GTT c.934_936delinsAAC p.E312N Missense 8/10 - 1
7-44186142-G-GT c.938dup p.N313Kfs*146 Frameshift 8/10 - 1
7-44186142-GT-G c.938del p.N313Tfs*40 Frameshift 8/10 - 1
7-44186146-T-A c.935A>T p.E312V Missense 8/10 - 1
7-44186146-T-C c.935A>G p.E312G Missense 8/10 - 1
7-44186146-TC-AG c.934_935delinsCT p.E312L Missense 8/10 - 1
7-44186146-TC-AT c.934_935delinsAT p.E312I Missense 8/10 - 1
7-44186146-TC-CT c.934_935delinsAG p.E312R Missense 8/10 - 1
7-44186146-TC-GA c.934_935inv p.E312S Missense 8/10 - 1
7-44186146-TC-GG c.934_935delinsCC p.E312P Missense 8/10 - 1
7-44186146-TC-GT c.934_935delinsAC p.E312T Missense 8/10 - 1
7-44186146-T-G c.935A>C p.E312A Missense 8/10 - 1
7-44186146-T-TTTTC c.934_935insGAAA p.E312Gfs*148 Frameshift 8/10 - 1
7-44186147-C-G c.934G>C p.E312Q Missense 8/10 - 1
7-44186147-C-T c.934G>A p.E312K Missense 8/10 - 2
7-44186147-TC-T c.934del p.E312Kfs*41 Frameshift 8/10 - 1
7-44186148-CGT-C c.932_933del p.D311Gfs*147 Frameshift 8/10 - 1
7-44186148-G-A c.933C>T p.D311= Synonymous 8/10 - 1
7-44186148-G-C c.933C>G p.D311E Missense 8/10 - 1
7-44186148-G-T c.933C>A p.D311E Missense 8/10 - 1
7-44186148-GTC-CAT c.931_933delinsATG p.D311M Missense 8/10 - 1
7-44186148-GTC-CCA c.931_933delinsTGG p.D311W Missense 8/10 - 1
7-44186148-GTC-CTT c.931_933delinsAAG p.D311K Missense 8/10 - 1
7-44186148-GTC-TTG c.931_933delinsCAA p.D311Q Missense 8/10 - 1
7-44186149-T-A c.932A>T p.D311V Missense 8/10 - 1
7-44186149-T-C c.932A>G p.D311G Missense 8/10 - 1
7-44186149-TC-AA c.931_932delinsTT p.D311F Missense 8/10 - 1
7-44186149-TC-AG c.931_932delinsCT p.D311L Missense 8/10 - 1
7-44186149-TC-AT c.931_932delinsAT p.D311I Missense 8/10 - 1
7-44186149-TC-CA c.931_932delinsTG p.D311C Missense 8/10 - 1
7-44186149-TC-CG c.931_932delinsCG p.D311R Missense 8/10 - 1
7-44186149-TC-CT c.931_932delinsAG p.D311S Missense 8/10 - 1
7-44186149-TC-GG c.931_932delinsCC p.D311P Missense 8/10 - 1
7-44186149-TC-GT c.931_932delinsAC p.D311T Missense 8/10 - 1
7-44186149-T-G c.932A>C p.D311A Missense 8/10 - 1
7-44186150-C-A c.931G>T p.D311Y Missense 8/10 - 1
7-44186150-C-CA c.930_931insT p.D311* Nonsense 8/10 - 1
7-44186150-C-G c.931G>C p.D311H Missense 8/10 - 2
7-44186150-C-T c.931G>A p.D311N Missense 8/10 - 2
7-44186150-TCC-T c.930_931del p.D311Rfs*147 Frameshift 8/10 - 2
7-44186151-CAC-AAA c.928_930delinsTTT p.V310F Missense 8/10 - 1
7-44186151-CAC-ACA c.928_930delinsTGT p.V310C Missense 8/10 - 1
7-44186151-CAC-ATA c.928_930delinsTAT p.V310Y Missense 8/10 - 1
7-44186151-CAC-ATG c.928_930delinsCAT p.V310H Missense 8/10 - 1
7-44186151-CAC-GAT c.928_930delinsATC p.V310I Missense 8/10 - 1
7-44186151-CAC-GTT c.928_930delinsAAC p.V310N Missense 8/10 - 1
7-44186151-CA-GT c.929_930delinsAC p.V310D Missense 8/10 - 1
7-44186150-CCA-C c.929_930del p.V310Gfs*148 Frameshift 8/10 - 1
7-44186152-A-C c.929T>G p.V310G Missense 8/10 - 4
7-44186152-AC-CA c.928_929delinsTG p.V310W Missense 8/10 - 1
7-44186152-AC-CT c.928_929delinsAG p.V310R Missense 8/10 - 1
7-44186152-AC-GA c.928_929delinsTC p.V310S Missense 8/10 - 1
7-44186152-AC-GG c.928_929delinsCC p.V310P Missense 8/10 - 1
7-44186152-AC-GT c.928_929inv p.V310T Missense 8/10 - 1
7-44186152-AC-TG c.928_929delinsCA p.V310Q Missense 8/10 - 1
7-44186152-AC-TT c.928_929delinsAA p.V310K Missense 8/10 - 1
7-44186152-A-G c.929T>C p.V310A Missense 8/10 - 1
7-44186152-A-T c.929T>A p.V310E Missense 8/10 - 1
7-44186153-C-A c.928G>T p.V310L Missense 8/10 - 1
7-44186153-C-G c.928G>C p.V310L Missense 8/10 - 1
7-44186153-C-T c.928G>A p.V310M Missense 8/10 - 1
7-44186154-G-A c.927C>T p.L309= Synonymous 8/10 - 2
7-44186154-GAG-CAT c.925_927delinsATG p.L309M Missense 8/10 - 1
7-44186154-GAG-CCA c.925_927delinsTGG p.L309W Missense 8/10 - 1
7-44186154-GAG-CTC c.925_927inv p.L309E Missense 8/10 - 1
7-44186154-GAG-CTT c.925_927delinsAAG p.L309K Missense 8/10 - 1
7-44186154-GA-TT c.926_927delinsAA p.L309Q Missense 8/10 - 1
7-44186153-CGA-C c.926_927del p.L309Rfs*149 Frameshift 8/10 - 1
7-44186155-A-C c.926T>G p.L309R Missense 8/10 - 2
7-44186155-A-G c.926T>C p.L309P Missense 8/10 - 5
7-44186155-AG-CA c.925_926delinsTG p.L309C Missense 8/10 - 1
7-44186155-AG-CC c.925_926delinsGG p.L309G Missense 8/10 - 1
7-44186155-AG-CT c.925_926inv p.L309S Missense 8/10 - 1
7-44186155-AG-GC c.925_926delinsGC p.L309A Missense 8/10 - 1
7-44186155-AG-GT c.925_926delinsAC p.L309T Missense 8/10 - 1
7-44186155-AG-TA c.925_926delinsTA p.L309Y Missense 8/10 - 1
7-44186155-AG-TC c.925_926delinsGA p.L309D Missense 8/10 - 1
7-44186155-AG-TT c.925_926delinsAA p.L309N Missense 8/10 - 1
7-44186155-A-T c.926T>A p.L309H Missense 8/10 - 2
7-44186156-G-A c.925C>T p.L309F Missense 8/10 - 2
7-44186156-G-C c.925C>G p.L309V Missense 8/10 - 1
7-44186156-G-T c.925C>A p.L309I Missense 8/10 - 2
7-44186157-C-A c.924G>T p.R308S Missense 8/10 - 2
7-44186157-CC-GA c.923_924delinsTC p.R308I Missense 8/10 - 1
7-44186157-CC-GT c.923_924delinsAC p.R308N Missense 8/10 - 1
7-44186157-CCT-AAA c.922_924delinsTTT p.R308F Missense 8/10 - 1
7-44186157-CCT-ACA c.922_924delinsTGT p.R308C Missense 8/10 - 1
7-44186157-CCT-ATA c.922_924delinsTAT p.R308Y Missense 8/10 - 1
7-44186157-CCT-ATG c.922_924delinsCAT p.R308H Missense 8/10 - 3
7-44186157-CCT-GTC c.922_924delinsGAC p.R308D Missense 8/10 - 1
7-44186157-C-G c.924G>C p.R308S Missense 8/10 - 1
7-44186158-C-A c.923G>T p.R308M Missense 8/10 - 1
7-44186158-C-G c.923G>C p.R308T Missense 8/10 - 1
7-44186158-C-T c.923G>A p.R308K Missense 8/10 - 4
7-44186158-CT-AC c.922_923delinsGT p.R308V Missense 8/10 - 1
7-44186158-CT-AG c.922_923inv p.R308L Missense 8/10 - 1
7-44186158-CT-GC c.922_923delinsGC p.R308A Missense 8/10 - 1
7-44186158-CT-GG c.922_923delinsCC p.R308P Missense 8/10 - 2
7-44186158-CT-TC c.922_923delinsGA p.R308E Missense 8/10 - 1
7-44186158-CT-TG c.922_923delinsCA p.R308Q Missense 8/10 - 1
7-44186159-T-A c.922A>T p.R308W Missense 8/10 - 3
7-44186159-T-C c.922A>G p.R308G Missense 8/10 - 1
7-44186160-G-A c.921C>T p.L307= Synonymous 8/10 - 1
7-44186160-GAG-CAT c.919_921delinsATG p.L307M Missense 8/10 - 1
7-44186160-GAG-CCA c.919_921delinsTGG p.L307W Missense 8/10 - 1
7-44186160-GAG-CTC c.919_921inv p.L307E Missense 8/10 - 1
7-44186160-GAG-CTT c.919_921delinsAAG p.L307K Missense 8/10 - 1
7-44186160-GA-TT c.920_921delinsAA p.L307Q Missense 8/10 - 1
7-44186160-G-C c.921C>G p.L307= Synonymous 8/10 - 1
7-44186160-G-T c.921C>A p.L307= Synonymous 8/10 - 1
7-44186161-A-C c.920T>G p.L307R Missense 8/10 - 1
7-44186161-A-G c.920T>C p.L307P Missense 8/10 - 2
7-44186161-AG-CA c.919_920delinsTG p.L307C Missense 8/10 - 1
7-44186161-AG-CC c.919_920delinsGG p.L307G Missense 8/10 - 1
7-44186161-AG-CT c.919_920inv p.L307S Missense 8/10 - 1
7-44186161-AG-GC c.919_920delinsGC p.L307A Missense 8/10 - 1
7-44186161-AG-GT c.919_920delinsAC p.L307T Missense 8/10 - 1
7-44186161-AG-TA c.919_920delinsTA p.L307Y Missense 8/10 - 1
7-44186161-AG-TC c.919_920delinsGA p.L307D Missense 8/10 - 1
7-44186161-AG-TT c.919_920delinsAA p.L307N Missense 8/10 - 1
7-44186161-A-T c.920T>A p.L307H Missense 8/10 - 1
7-44186162-G-A c.919C>T p.L307F Missense 8/10 - 4
7-44186162-G-C c.919C>G p.L307V Missense 8/10 - 1
7-44186162-G-T c.919C>A p.L307I Missense 8/10 - 1
7-44186163-C-A c.918G>T p.L306= Synonymous 8/10 - 1
7-44186163-CA-AT c.917_918delinsAT p.L306H Missense 8/10 - 1
7-44186163-CAG-AAA c.916_918delinsTTT p.L306F Missense 8/10 - 1
7-44186163-CAG-ACA c.916_918delinsTGT p.L306C Missense 8/10 - 1
7-44186163-CAG-ATA c.916_918delinsTAT p.L306Y Missense 8/10 - 1
7-44186163-CAG-GAT c.916_918delinsATC p.L306I Missense 8/10 - 1
7-44186163-CAG-GTC c.916_918delinsGAC p.L306D Missense 8/10 - 1
7-44186163-CAG-GTT c.916_918delinsAAC p.L306N Missense 8/10 - 1
7-44186163-C-G c.918G>C p.L306= Synonymous 8/10 - 1
7-44186163-C-T c.918G>A p.L306= Synonymous 8/10 - 1
7-44186165-G-A c.916C>T p.L306= Synonymous 8/10 - 1
7-44186164-A-C c.917T>G p.L306R Missense 8/10 - 3
7-44186164-A-G c.917T>C p.L306P Missense 8/10 - 6
7-44186164-AG-CA c.916_917delinsTG p.L306W Missense 8/10 - 1
7-44186164-AG-CC c.916_917delinsGG p.L306G Missense 8/10 - 1
7-44186164-AG-GA c.916_917delinsTC p.L306S Missense 8/10 - 1
7-44186164-AG-GC c.916_917delinsGC p.L306A Missense 8/10 - 1
7-44186164-AG-GT c.916_917delinsAC p.L306T Missense 8/10 - 1
7-44186164-AG-TC c.916_917delinsGA p.L306E Missense 8/10 - 1
7-44186164-AG-TT c.916_917delinsAA p.L306K Missense 8/10 - 1
7-44186164-A-T c.917T>A p.L306Q Missense 8/10 - 1
7-44186165-G-C c.916C>G p.L306V Missense 8/10 - 1
7-44186165-G-T c.916C>A p.L306M Missense 8/10 - 1
7-44186166-CAC-AAA c.913_915delinsTTT p.V305F Missense 8/10 - 1
7-44186166-CAC-ACA c.913_915delinsTGT p.V305C Missense 8/10 - 1
7-44186166-CAC-ATA c.913_915delinsTAT p.V305Y Missense 8/10 - 1
7-44186166-CAC-ATG c.913_915delinsCAT p.V305H Missense 8/10 - 1
7-44186166-CAC-GAT c.913_915delinsATC p.V305I Missense 8/10 - 1
7-44186166-CAC-GTT c.913_915delinsAAC p.V305N Missense 8/10 - 1
7-44186166-CA-GT c.914_915delinsAC p.V305D Missense 8/10 - 1
7-44186167-A-C c.914T>G p.V305G Missense 8/10 - 1
7-44186167-AC-CA c.913_914delinsTG p.V305W Missense 8/10 - 1
7-44186167-AC-CT c.913_914delinsAG p.V305R Missense 8/10 - 1
7-44186167-AC-GA c.913_914delinsTC p.V305S Missense 8/10 - 1
7-44186167-AC-GG c.913_914delinsCC p.V305P Missense 8/10 - 1
7-44186167-AC-GT c.913_914inv p.V305T Missense 8/10 - 1
7-44186167-AC-TG c.913_914delinsCA p.V305Q Missense 8/10 - 1
7-44186167-AC-TT c.913_914delinsAA p.V305K Missense 8/10 - 1
7-44186167-A-G c.914T>C p.V305A Missense 8/10 - 1
7-44186167-A-T c.914T>A p.V305E Missense 8/10 - 1
7-44186168-C-A c.913G>T p.V305L Missense 8/10 - 3
7-44186168-C-G c.913G>C p.V305L Missense 8/10 - 3
7-44186168-C-T c.913G>A p.V305M Missense 8/10 - 1
7-44186169-AAG-CAT c.910_912delinsATG p.L304M Missense 8/10 - 1
7-44186169-AAG-CCA c.910_912delinsTGG p.L304W Missense 8/10 - 1
7-44186169-AAG-CTC c.910_912delinsGAG p.L304E Missense 8/10 - 1
7-44186169-AAG-CTT c.910_912inv p.L304K Missense 8/10 - 1
7-44186169-AA-TT c.911_912inv p.L304Q Missense 8/10 - 1
7-44186170-A-C c.911T>G p.L304R Missense 8/10 - 1
7-44186170-A-G c.911T>C p.L304P Missense 8/10 - 4
7-44186170-AG-CA c.910_911delinsTG p.L304C Missense 8/10 - 1
7-44186170-AG-CC c.910_911delinsGG p.L304G Missense 8/10 - 1
7-44186170-AG-CT c.910_911inv p.L304S Missense 8/10 - 1
7-44186170-AG-GC c.910_911delinsGC p.L304A Missense 8/10 - 1
7-44186170-AG-GT c.910_911delinsAC p.L304T Missense 8/10 - 1
7-44186170-AG-TA c.910_911delinsTA p.L304Y Missense 8/10 - 1
7-44186170-AG-TC c.910_911delinsGA p.L304D Missense 8/10 - 1
7-44186170-AG-TT c.910_911delinsAA p.L304N Missense 8/10 - 1
7-44186170-A-T c.911T>A p.L304H Missense 8/10 - 1
7-44186171-G-A c.910C>T p.L304F Missense 8/10 - 5
7-44186171-G-C c.910C>G p.L304V Missense 8/10 - 1
7-44186171-G-T c.910C>A p.L304I Missense 8/10 - 1
7-44186172-CC-AT c.908_909delinsAT p.R303H Missense 8/10 - 3
7-44186172-CCG-AAA c.907_909delinsTTT p.R303F Missense 8/10 - 1
7-44186172-CCG-ACA c.907_909delinsTGT p.R303C Missense 8/10 - 1
7-44186172-CCG-ATA c.907_909delinsTAT p.R303Y Missense 8/10 - 1
7-44186172-CCG-GAT c.907_909delinsATC p.R303I Missense 8/10 - 1
7-44186172-CCG-GCT c.907_909delinsAGC p.R303S Missense 8/10 - 1
7-44186172-CCG-GTC c.907_909delinsGAC p.R303D Missense 8/10 - 1
7-44186172-CCG-GTT c.907_909delinsAAC p.R303N Missense 8/10 - 1
7-44186173-C-A c.908G>T p.R303L Missense 8/10 - 5
7-44186173-C-G c.908G>C p.R303P Missense 8/10 - 1
7-44186173-CG-AC c.907_908delinsGT p.R303V Missense 8/10 - 1
7-44186173-CG-AT c.907_908delinsAT p.R303M Missense 8/10 - 1
7-44186173-CG-GC c.907_908delinsGC p.R303A Missense 8/10 - 1
7-44186173-CG-GT c.907_908delinsAC p.R303T Missense 8/10 - 2
7-44186173-CG-TC c.907_908delinsGA p.R303E Missense 8/10 - 1
7-44186173-CG-TT c.907_908delinsAA p.R303K Missense 8/10 - 1
7-44186173-C-T c.908G>A p.R303Q Missense 8/10 - 5
7-44186174-G-A c.907C>T p.R303W Missense 8/10 - 11
7-44186174-G-C c.907C>G p.R303G Missense 8/10 - 1
7-44186174-G-T c.907C>A p.R303= Synonymous 8/10 - 2
7-44186175-CAC-AAA c.904_906delinsTTT p.V302F Missense 8/10 - 1
7-44186175-CAC-ACA c.904_906delinsTGT p.V302C Missense 8/10 - 1
7-44186175-CAC-ATA c.904_906delinsTAT p.V302Y Missense 8/10 - 1
7-44186175-CAC-ATG c.904_906delinsCAT p.V302H Missense 8/10 - 1
7-44186175-CAC-GAT c.904_906delinsATC p.V302I Missense 8/10 - 1
7-44186175-CAC-GTT c.904_906delinsAAC p.V302N Missense 8/10 - 1
7-44186175-CA-GT c.905_906delinsAC p.V302D Missense 8/10 - 1
7-44186176-A-C c.905T>G p.V302G Missense 8/10 - 1
7-44186176-AC-CA c.904_905delinsTG p.V302W Missense 8/10 - 1
7-44186176-AC-CT c.904_905delinsAG p.V302R Missense 8/10 - 1
7-44186176-AC-GA c.904_905delinsTC p.V302S Missense 8/10 - 1
7-44186176-AC-GG c.904_905delinsCC p.V302P Missense 8/10 - 1
7-44186176-AC-GT c.904_905inv p.V302T Missense 8/10 - 1
7-44186176-AC-TG c.904_905delinsCA p.V302Q Missense 8/10 - 1
7-44186176-AC-TT c.904_905delinsAA p.V302K Missense 8/10 - 1
7-44186176-A-G c.905T>C p.V302A Missense 8/10 - 2
7-44186176-A-T c.905T>A p.V302E Missense 8/10 - 2
7-44186177-C-A c.904G>T p.V302L Missense 8/10 - 2
7-44186177-C-G c.904G>C p.V302L Missense 8/10 - 3
7-44186177-C-T c.904G>A p.V302M Missense 8/10 - 2
7-44186178-CA-AT c.902_903delinsAT p.L301H Missense 8/10 - 1
7-44186178-CAG-AAA c.901_903delinsTTT p.L301F Missense 8/10 - 1
7-44186178-CAG-ACA c.901_903delinsTGT p.L301C Missense 8/10 - 1
7-44186178-CAG-ATA c.901_903delinsTAT p.L301Y Missense 8/10 - 1
7-44186178-CAG-GAT c.901_903delinsATC p.L301I Missense 8/10 - 1
7-44186178-CAG-GTC c.901_903delinsGAC p.L301D Missense 8/10 - 1
7-44186178-CAG-GTT c.901_903delinsAAC p.L301N Missense 8/10 - 1
7-44186179-A-C c.902T>G p.L301R Missense 8/10 - 1
7-44186179-A-G c.902T>C p.L301P Missense 8/10 - 3
7-44186179-AG-CA c.901_902delinsTG p.L301W Missense 8/10 - 1
7-44186179-AG-CC c.901_902delinsGG p.L301G Missense 8/10 - 1
7-44186179-AG-GA c.901_902delinsTC p.L301S Missense 8/10 - 1
7-44186179-AG-GC c.901_902delinsGC p.L301A Missense 8/10 - 1
7-44186179-AG-GT c.901_902delinsAC p.L301T Missense 8/10 - 1
7-44186179-AG-TC c.901_902delinsGA p.L301E Missense 8/10 - 1
7-44186179-AG-TT c.901_902delinsAA p.L301K Missense 8/10 - 1
7-44186179-A-T c.902T>A p.L301Q Missense 8/10 - 1
7-44186180-G-A c.901C>T p.L301= Synonymous 8/10 - 1
7-44186180-G-C c.901C>G p.L301V Missense 8/10 - 1
7-44186180-G-T c.901C>A p.L301M Missense 8/10 - 1
7-44186181-C-A c.900G>T p.E300D Missense 8/10 - 1
7-44186181-C-G c.900G>C p.E300D Missense 8/10 - 1
7-44186181-CTC-AAA c.898_900delinsTTT p.E300F Missense 8/10 - 1
7-44186181-CTC-ACA c.898_900delinsTGT p.E300C Missense 8/10 - 1
7-44186181-CTC-ATA c.898_900delinsTAT p.E300Y Missense 8/10 - 1
7-44186181-CTC-ATG c.898_900delinsCAT p.E300H Missense 8/10 - 1
7-44186181-CTC-GAT c.898_900delinsATC p.E300I Missense 8/10 - 1
7-44186181-CTC-GTT c.898_900delinsAAC p.E300N Missense 8/10 - 1
7-44186182-T-A c.899A>T p.E300V Missense 8/10 - 1
7-44186182-T-C c.899A>G p.E300G Missense 8/10 - 1
7-44186182-TC-AG c.898_899delinsCT p.E300L Missense 8/10 - 1
7-44186182-TC-AT c.898_899delinsAT p.E300M Missense 8/10 - 1
7-44186182-TC-CA c.898_899delinsTG p.E300W Missense 8/10 - 1
7-44186182-TC-CT c.898_899delinsAG p.E300R Missense 8/10 - 1
7-44186182-TC-GA c.898_899inv p.E300S Missense 8/10 - 1
7-44186182-TC-GG c.898_899delinsCC p.E300P Missense 8/10 - 1
7-44186182-TC-GT c.898_899delinsAC p.E300T Missense 8/10 - 1
7-44186182-T-G c.899A>C p.E300A Missense 8/10 - 2
7-44186183-C-A c.898G>T p.E300* Nonsense 8/10 - 2
7-44186183-C-G c.898G>C p.E300Q Missense 8/10 - 7
7-44186183-C-T c.898G>A p.E300K Missense 8/10 - 17
7-44186184-GCC-CAT c.895_897delinsATG p.G299M Missense 8/10 - 1
7-44186184-GCC-CCA c.895_897delinsTGG p.G299W Missense 8/10 - 1
7-44186184-GCC-CTT c.895_897delinsAAG p.G299K Missense 8/10 - 1
7-44186184-GC-CT c.896_897delinsAG p.G299E Missense 8/10 - 1
7-44186184-GCC-TTG c.895_897delinsCAA p.G299Q Missense 8/10 - 1
7-44186185-C-A c.896G>T p.G299V Missense 8/10 - 3
7-44186185-CC-AA c.895_896delinsTT p.G299F Missense 8/10 - 1
7-44186185-CC-AG c.895_896delinsCT p.G299L Missense 8/10 - 1
7-44186185-CC-AT c.895_896delinsAT p.G299I Missense 8/10 - 1
7-44186185-CC-GG c.895_896inv p.G299P Missense 8/10 - 1
7-44186185-CC-GT c.895_896delinsAC p.G299T Missense 8/10 - 1
7-44186185-CC-TA c.895_896delinsTA p.G299Y Missense 8/10 - 1
7-44186185-CC-TG c.895_896delinsCA p.G299H Missense 8/10 - 1
7-44186185-CC-TT c.895_896delinsAA p.G299N Missense 8/10 - 1
7-44186185-C-G c.896G>C p.G299A Missense 8/10 - 1
7-44186185-C-T c.896G>A p.G299D Missense 8/10 - 5
7-44186186-C-A c.895G>T p.G299C Missense 8/10 - 2
7-44186186-C-G c.895G>C p.G299R Missense 8/10 - 18
7-44186186-C-T c.895G>A p.G299S Missense 8/10 - 4
7-44186184-GC-G c.896del p.G299Afs*54 Frameshift 8/10 - 1
7-44186187-C-A c.894G>T p.M298I Missense 8/10 - 2
7-44186187-CA-GC c.893_894delinsGC p.M298S Missense 8/10 - 1
7-44186187-CA-GT c.893_894delinsAC p.M298N Missense 8/10 - 1
7-44186187-CAT-AAA c.892_894delinsTTT p.M298F Missense 8/10 - 1
7-44186187-CAT-ACA c.892_894delinsTGT p.M298C Missense 8/10 - 1
7-44186187-CAT-ATA c.892_894delinsTAT p.M298Y Missense 8/10 - 1
7-44186187-CAT-ATG c.892_894inv p.M298H Missense 8/10 - 1
7-44186187-CAT-GTC c.892_894delinsGAC p.M298D Missense 8/10 - 1
7-44186187-C-G c.894G>C p.M298I Missense 8/10 - 1
7-44186187-C-T c.894G>A p.M298I Missense 8/10 - 1
7-44186188-A-C c.893T>G p.M298R Missense 8/10 - 1
7-44186188-A-G c.893T>C p.M298T Missense 8/10 - 3
7-44186188-A-T c.893T>A p.M298K Missense 8/10 - 7
7-44186188-AT-CA c.892_893delinsTG p.M298W Missense 8/10 - 1
7-44186188-AT-CC c.892_893delinsGG p.M298G Missense 8/10 - 1
7-44186188-AT-GC c.892_893delinsGC p.M298A Missense 8/10 - 1
7-44186188-AT-GG c.892_893delinsCC p.M298P Missense 8/10 - 1
7-44186188-AT-TC c.892_893delinsGA p.M298E Missense 8/10 - 1
7-44186188-AT-TG c.892_893delinsCA p.M298Q Missense 8/10 - 1
7-44186185-CCCATGTACTTG-C c.885_895del p.K296Rfs*159 Frameshift 8/10 - 1
7-44186189-T-A c.892A>T p.M298L Missense 8/10 - 2
7-44186189-T-C c.892A>G p.M298V Missense 8/10 - 2
7-44186189-T-G c.892A>C p.M298L Missense 8/10 - 2
7-44186190-G-C c.891C>G p.Y297* Nonsense 8/10 - 1
7-44186190-G-T c.891C>A p.Y297* Nonsense 8/10 - 3
7-44186190-GTA-CAT c.889_891delinsATG p.Y297M Missense 8/10 - 1
7-44186190-GTA-CTC c.889_891delinsGAG p.Y297E Missense 8/10 - 1
7-44186190-GTA-CTT c.889_891delinsAAG p.Y297K Missense 8/10 - 1
7-44186190-GTA-TTG c.889_891delinsCAA p.Y297Q Missense 8/10 - 1
7-44186190-GT-CC c.890_891delinsGG p.Y297W Missense 8/10 - 1
7-44186191-T-A c.890A>T p.Y297F Missense 8/10 - 1
7-44186191-TA-AC c.889_890delinsGT p.Y297V Missense 8/10 - 1
7-44186191-TA-AG c.889_890delinsCT p.Y297L Missense 8/10 - 1
7-44186191-TA-AT c.889_890delinsAT p.Y297I Missense 8/10 - 1
7-44186191-TA-CC c.889_890delinsGG p.Y297G Missense 8/10 - 1
7-44186191-TA-CG c.889_890delinsCG p.Y297R Missense 8/10 - 1
7-44186191-TA-GC c.889_890delinsGC p.Y297A Missense 8/10 - 1
7-44186191-TA-GG c.889_890delinsCC p.Y297P Missense 8/10 - 1
7-44186191-TA-GT c.889_890delinsAC p.Y297T Missense 8/10 - 1
7-44186191-T-C c.890A>G p.Y297C Missense 8/10 - 1
7-44186191-T-G c.890A>C p.Y297S Missense 8/10 - 1
7-44186192-A-C c.889T>G p.Y297D Missense 8/10 - 1
7-44186192-A-G c.889T>C p.Y297H Missense 8/10 - 2
7-44186192-A-T c.889T>A p.Y297N Missense 8/10 - 1
7-44186193-C-A c.888G>T p.K296N Missense 8/10 - 1
7-44186193-C-G c.888G>C p.K296N Missense 8/10 - 1
7-44186193-CT-GA c.887_888delinsTC p.K296I Missense 8/10 - 1
7-44186193-CT-GC c.887_888delinsGC p.K296S Missense 8/10 - 1
7-44186193-CTT-AAA c.886_888delinsTTT p.K296F Missense 8/10 - 1
7-44186193-CTT-ACA c.886_888delinsTGT p.K296C Missense 8/10 - 1
7-44186193-CTT-ATA c.886_888delinsTAT p.K296Y Missense 8/10 - 1
7-44186193-CTT-ATG c.886_888delinsCAT p.K296H Missense 8/10 - 1
7-44186193-CTT-GTC c.886_888delinsGAC p.K296D Missense 8/10 - 1
7-44186194-T-A c.887A>T p.K296M Missense 8/10 - 2
7-44186194-T-C c.887A>G p.K296R Missense 8/10 - 1
7-44186194-T-G c.887A>C p.K296T Missense 8/10 - 1
7-44186194-TT-AC c.886_887delinsGT p.K296V Missense 8/10 - 1
7-44186194-TT-AG c.886_887delinsCT p.K296L Missense 8/10 - 1
7-44186194-TT-CA c.886_887delinsTG p.K296W Missense 8/10 - 1
7-44186194-TT-CC c.886_887delinsGG p.K296G Missense 8/10 - 1
7-44186194-TT-GC c.886_887delinsGC p.K296A Missense 8/10 - 1
7-44186194-TT-GG c.886_887delinsCC p.K296P Missense 8/10 - 1
7-44186195-T-C c.886A>G p.K296E Missense 8/10 - 1
7-44186195-T-G c.886A>C p.K296Q Missense 8/10 - 3
7-44186196-G-A c.885C>T p.G295= Synonymous 8/10 - 2
7-44186196-GCC-CAT c.883_885delinsATG p.G295M Missense 8/10 - 1
7-44186196-GCC-CCA c.883_885delinsTGG p.G295W Missense 8/10 - 1
7-44186196-GCC-CTT c.883_885delinsAAG p.G295K Missense 8/10 - 1
7-44186196-GC-CT c.884_885delinsAG p.G295E Missense 8/10 - 1
7-44186196-GCC-TTG c.883_885delinsCAA p.G295Q Missense 8/10 - 1
7-44186197-C-A c.884G>T p.G295V Missense 8/10 - 1
7-44186197-CC-AA c.883_884delinsTT p.G295F Missense 8/10 - 1
7-44186197-CC-AG c.883_884delinsCT p.G295L Missense 8/10 - 1
7-44186197-CC-AT c.883_884delinsAT p.G295I Missense 8/10 - 1
7-44186197-CC-GG c.883_884inv p.G295P Missense 8/10 - 1
7-44186197-CC-GT c.883_884delinsAC p.G295T Missense 8/10 - 1
7-44186197-CC-TA c.883_884delinsTA p.G295Y Missense 8/10 - 1
7-44186197-CC-TG c.883_884delinsCA p.G295H Missense 8/10 - 1
7-44186197-CC-TT c.883_884delinsAA p.G295N Missense 8/10 - 1
7-44186197-C-G c.884G>C p.G295A Missense 8/10 - 1
7-44186197-C-T c.884G>A p.G295D Missense 8/10 - 3
7-44186196-GC-G c.884del p.G295Afs*58 Frameshift 8/10 - 1
7-44186198-C-A c.883G>T p.G295C Missense 8/10 - 4
7-44186198-C-G c.883G>C p.G295R Missense 8/10 - 1
7-44186198-C-T c.883G>A p.G295S Missense 8/10 - 7
7-44186199-ACC-CAT c.880_882delinsATG p.G294M Missense 8/10 - 1
7-44186199-ACC-CCA c.880_882delinsTGG p.G294W Missense 8/10 - 1
7-44186199-ACC-CTT c.880_882delinsAAG p.G294K Missense 8/10 - 1
7-44186199-AC-CT c.881_882delinsAG p.G294E Missense 8/10 - 1
7-44186199-ACC-TTG c.880_882delinsCAA p.G294Q Missense 8/10 - 1
7-44186200-C-A c.881G>T p.G294V Missense 8/10 - 1
7-44186200-CC-AA c.880_881delinsTT p.G294F Missense 8/10 - 1
7-44186200-CC-AG c.880_881delinsCT p.G294L Missense 8/10 - 1
7-44186200-CC-AT c.880_881delinsAT p.G294I Missense 8/10 - 1
7-44186200-CC-GG c.880_881inv p.G294P Missense 8/10 - 1
7-44186200-CC-GT c.880_881delinsAC p.G294T Missense 8/10 - 1
7-44186200-CC-TA c.880_881delinsTA p.G294Y Missense 8/10 - 1
7-44186200-CC-TG c.880_881delinsCA p.G294H Missense 8/10 - 1
7-44186200-CC-TT c.880_881delinsAA p.G294N Missense 8/10 - 2
7-44186200-C-G c.881G>C p.G294A Missense 8/10 - 1
7-44186200-C-T c.881G>A p.G294D Missense 8/10 - 3
7-44186201-C-A c.880G>T p.G294C Missense 8/10 - 1
7-44186201-C-G c.880G>C p.G294R Missense 8/10 - 1
7-44186201-C-T c.880G>A p.G294S Missense 8/10 - 4
7-44186202-TA-GC c.878_879delinsGC p.I293S Missense 8/10 - 1
7-44186202-TA-GT c.878_879delinsAC p.I293N Missense 8/10 - 1
7-44186202-TAT-AAA c.877_879delinsTTT p.I293F Missense 8/10 - 1
7-44186202-TAT-ACA c.877_879delinsTGT p.I293C Missense 8/10 - 1
7-44186202-TAT-ATA c.877_879inv p.I293Y Missense 8/10 - 1
7-44186202-TAT-ATG c.877_879delinsCAT p.I293H Missense 8/10 - 1
7-44186202-TAT-CCA c.877_879delinsTGG p.I293W Missense 8/10 - 1
7-44186202-TAT-GTC c.877_879delinsGAC p.I293D Missense 8/10 - 1
7-44186202-T-C c.879A>G p.I293M Missense 8/10 - 1
7-44186203-A-C c.878T>G p.I293R Missense 8/10 - 6
7-44186203-A-G c.878T>C p.I293T Missense 8/10 - 3
7-44186203-A-T c.878T>A p.I293K Missense 8/10 - 1
7-44186203-AT-CC c.877_878delinsGG p.I293G Missense 8/10 - 1
7-44186203-AT-GC c.877_878delinsGC p.I293A Missense 8/10 - 2
7-44186203-AT-GG c.877_878delinsCC p.I293P Missense 8/10 - 1
7-44186203-AT-TC c.877_878delinsGA p.I293E Missense 8/10 - 1
7-44186203-AT-TG c.877_878delinsCA p.I293Q Missense 8/10 - 1
7-44186204-T-A c.877A>T p.I293L Missense 8/10 - 1
7-44186204-T-C c.877A>G p.I293V Missense 8/10 - 1
7-44186204-T-G c.877A>C p.I293L Missense 8/10 - 2
7-44186205-G-A c.876C>T p.L292= Synonymous 8/10 - 1
7-44186205-GAG-CAT c.874_876delinsATG p.L292M Missense 8/10 - 1
7-44186205-GAG-CCA c.874_876delinsTGG p.L292W Missense 8/10 - 1
7-44186205-GAG-CTC c.874_876inv p.L292E Missense 8/10 - 1
7-44186205-GAG-CTT c.874_876delinsAAG p.L292K Missense 8/10 - 1
7-44186205-GA-TT c.875_876delinsAA p.L292Q Missense 8/10 - 1
7-44186205-G-C c.876C>G p.L292= Synonymous 8/10 - 1
7-44186205-G-T c.876C>A p.L292= Synonymous 8/10 - 1
7-44186206-A-C c.875T>G p.L292R Missense 8/10 - 1
7-44186206-A-G c.875T>C p.L292P Missense 8/10 - 1
7-44186206-AG-CA c.874_875delinsTG p.L292C Missense 8/10 - 1
7-44186206-AG-CC c.874_875delinsGG p.L292G Missense 8/10 - 1
7-44186206-AG-CT c.874_875inv p.L292S Missense 8/10 - 1
7-44186206-AG-GC c.874_875delinsGC p.L292A Missense 8/10 - 1
7-44186206-AG-GT c.874_875delinsAC p.L292T Missense 8/10 - 1
7-44186206-AG-TA c.874_875delinsTA p.L292Y Missense 8/10 - 1
7-44186206-AG-TC c.874_875delinsGA p.L292D Missense 8/10 - 1
7-44186206-AG-TT c.874_875delinsAA p.L292N Missense 8/10 - 1
7-44186206-A-T c.875T>A p.L292H Missense 8/10 - 1
7-44186207-G-A c.874C>T p.L292F Missense 8/10 - 1
7-44186207-G-C c.874C>G p.L292V Missense 8/10 - 1
7-44186207-G-T c.874C>A p.L292I Missense 8/10 - 1
7-44186208-C-A c.873G>T p.K291N Missense 8/10 - 1
7-44186208-C-G c.873G>C p.K291N Missense 8/10 - 2
7-44186208-C-T c.873G>A p.K291= Synonymous 8/10 - 1
7-44186208-CT-GA c.872_873delinsTC p.K291I Missense 8/10 - 1
7-44186208-CT-GC c.872_873delinsGC p.K291S Missense 8/10 - 1
7-44186208-CTT-AAA c.871_873delinsTTT p.K291F Missense 8/10 - 1
7-44186208-CTT-ACA c.871_873delinsTGT p.K291C Missense 8/10 - 1
7-44186208-CTT-ATA c.871_873delinsTAT p.K291Y Missense 8/10 - 1
7-44186208-CTT-ATG c.871_873delinsCAT p.K291H Missense 8/10 - 1
7-44186208-CTT-GTC c.871_873delinsGAC p.K291D Missense 8/10 - 1
7-44186209-T-A c.872A>T p.K291M Missense 8/10 - 2
7-44186209-T-C c.872A>G p.K291R Missense 8/10 - 1
7-44186209-T-G c.872A>C p.K291T Missense 8/10 - 3
7-44186209-TT-AC c.871_872delinsGT p.K291V Missense 8/10 - 1
7-44186209-TT-AG c.871_872delinsCT p.K291L Missense 8/10 - 1
7-44186209-TT-CA c.871_872delinsTG p.K291W Missense 8/10 - 1
7-44186209-TT-CC c.871_872delinsGG p.K291G Missense 8/10 - 1
7-44186209-TT-GC c.871_872delinsGC p.K291A Missense 8/10 - 1
7-44186209-TT-GG c.871_872delinsCC p.K291P Missense 8/10 - 1
7-44186208-C-CT c.872dup p.L292Afs*167 Frameshift 8/10 - 1
7-44186210-T-A c.871A>T p.K291* Nonsense 8/10 - 4
7-44186210-T-C c.871A>G p.K291E Missense 8/10 - 5
7-44186210-T-G c.871A>C p.K291Q Missense 8/10 - 1
7-44186211-C-A c.870G>T p.E290D Missense 8/10 - 6
7-44186211-C-G c.870G>C p.E290D Missense 8/10 - 4
7-44186211-CTC-AAA c.868_870delinsTTT p.E290F Missense 8/10 - 1
7-44186211-CTC-ACA c.868_870delinsTGT p.E290C Missense 8/10 - 1
7-44186211-CTC-ATA c.868_870delinsTAT p.E290Y Missense 8/10 - 1
7-44186211-CTC-ATG c.868_870delinsCAT p.E290H Missense 8/10 - 1
7-44186211-CTC-GAT c.868_870delinsATC p.E290I Missense 8/10 - 1
7-44186211-CTC-GTT c.868_870delinsAAC p.E290N Missense 8/10 - 1
7-44186212-T-A c.869A>T p.E290V Missense 8/10 - 1
7-44186212-T-C c.869A>G p.E290G Missense 8/10 - 3
7-44186212-TC-AG c.868_869delinsCT p.E290L Missense 8/10 - 1
7-44186212-TC-AT c.868_869delinsAT p.E290M Missense 8/10 - 1
7-44186212-TC-CA c.868_869delinsTG p.E290W Missense 8/10 - 1
7-44186212-TC-CT c.868_869delinsAG p.E290R Missense 8/10 - 1
7-44186212-TC-GA c.868_869inv p.E290S Missense 8/10 - 1
7-44186212-TC-GG c.868_869delinsCC p.E290P Missense 8/10 - 1
7-44186212-TC-GT c.868_869delinsAC p.E290T Missense 8/10 - 1
7-44186212-T-G c.869A>C p.E290A Missense 8/10 - 2
7-44186213-C-A c.868G>T p.E290* Nonsense 8/10 - 3
7-44186213-C-G c.868G>C p.E290Q Missense 8/10 - 2
7-44186213-C-T c.868G>A p.E290K Missense 8/10 - 3
7-44186214-A-C c.867T>G p.Y289* Nonsense 8/10 - 2
7-44186214-A-T c.867T>A p.Y289* Nonsense 8/10 - 1
7-44186214-ATA-CAT c.865_867delinsATG p.Y289M Missense 8/10 - 1
7-44186214-ATA-CTC c.865_867delinsGAG p.Y289E Missense 8/10 - 1
7-44186214-ATA-CTT c.865_867delinsAAG p.Y289K Missense 8/10 - 1
7-44186214-ATA-TTG c.865_867delinsCAA p.Y289Q Missense 8/10 - 1
7-44186214-AT-CC c.866_867delinsGG p.Y289W Missense 8/10 - 1
7-44186215-T-A c.866A>T p.Y289F Missense 8/10 - 1
7-44186215-TA-AC c.865_866delinsGT p.Y289V Missense 8/10 - 1
7-44186215-TA-AG c.865_866delinsCT p.Y289L Missense 8/10 - 1
7-44186215-TA-AT c.865_866delinsAT p.Y289I Missense 8/10 - 1
7-44186215-TA-CC c.865_866delinsGG p.Y289G Missense 8/10 - 1
7-44186215-TA-CG c.865_866delinsCG p.Y289R Missense 8/10 - 1
7-44186215-TA-GC c.865_866delinsGC p.Y289A Missense 8/10 - 1
7-44186215-TA-GG c.865_866delinsCC p.Y289P Missense 8/10 - 1
7-44186215-TA-GT c.865_866delinsAC p.Y289T Missense 8/10 - 1
7-44186215-T-C c.866A>G p.Y289C Missense 8/10 - 4
7-44186215-T-G c.866A>C p.Y289S Missense 8/10 - 1
7-44186216-A-C c.865T>G p.Y289D Missense 8/10 - 1
7-44186216-A-G c.865T>C p.Y289H Missense 8/10 - 6
7-44186216-A-T c.865T>A p.Y289N Missense 8/10 - 4
7-44186216-TA-T c.865del p.Y289Mfs*5 Frameshift 8/10 - 1
7-44186217-C-G c.864G>C p.L288= Synonymous 8/10 - 1
7-44186218-C-T c.864-1G>A - IntronicSNV - 7/9 2
7-44186307-A-G c.864-90T>C - IntronicSNV - 7/9 1
7-44186328-C-T c.864-111G>A - IntronicSNV - 7/9 1
7-44187007-G-A c.863+242C>T - IntronicSNV - 7/9 1
7-44187017-C-T c.863+232G>A - IntronicSNV - 7/9 1
7-44187031-T-G c.863+218A>C - IntronicSNV - 7/9 1
7-44187083-A-G c.863+166T>C - IntronicSNV - 7/9 1
7-44187099-G-A c.863+150C>T - IntronicSNV - 7/9 1
7-44187120-G-C c.863+129C>G - IntronicSNV - 7/9 1
7-44187147-T-C c.863+102A>G - IntronicSNV - 7/9 1
7-44187195-C-T c.863+54G>A - IntronicSNV - 7/9 1
7-44187217-G-T c.863+32C>A - IntronicSNV - 7/9 1
7-44187225-T-C c.863+24A>G - IntronicSNV - 7/9 1
7-44187246-T-C c.863+3A>G - IntronicSNV - 7/9 1
7-44187248-C-A c.863+1G>T - IntronicSNV - 7/9 1
7-44187248-C-G c.863+1G>C - IntronicSNV - 7/9 1
7-44187248-C-T c.863+1G>A - IntronicSNV - 7/9 4
7-44187249-A-C c.863T>G p.L288R Missense 7/10 - 3
7-44187249-A-G c.863T>C p.L288P Missense 7/10 - 2
7-44187249-AG-CA c.862_863delinsTG p.L288W Missense 7/10 - 1
7-44187249-AG-CC c.862_863delinsGG p.L288G Missense 7/10 - 1
7-44187249-AG-GA c.862_863delinsTC p.L288S Missense 7/10 - 1
7-44187249-AG-GC c.862_863delinsGC p.L288A Missense 7/10 - 1
7-44187249-AG-GT c.862_863delinsAC p.L288T Missense 7/10 - 1
7-44187249-AG-TC c.862_863delinsGA p.L288E Missense 7/10 - 1
7-44187249-AG-TT c.862_863delinsAA p.L288K Missense 7/10 - 1
7-44187249-A-T c.863T>A p.L288Q Missense 7/10 - 1
7-44187250-G-C c.862C>G p.L288V Missense 7/10 - 1
7-44187250-G-T c.862C>A p.L288M Missense 7/10 - 1
7-44187251-C-A c.861G>T p.Q287H Missense 7/10 - 1
7-44187251-C-G c.861G>C p.Q287H Missense 7/10 - 1
7-44187251-CTG-AAA c.859_861delinsTTT p.Q287F Missense 7/10 - 1
7-44187251-CTG-ACA c.859_861delinsTGT p.Q287C Missense 7/10 - 1
7-44187251-CTG-ATA c.859_861delinsTAT p.Q287Y Missense 7/10 - 1
7-44187251-CTG-GAT c.859_861delinsATC p.Q287I Missense 7/10 - 1
7-44187251-CTG-GTC c.859_861delinsGAC p.Q287D Missense 7/10 - 1
7-44187251-CTG-GTT c.859_861delinsAAC p.Q287N Missense 7/10 - 1
7-44187252-T-A c.860A>T p.Q287L Missense 7/10 - 2
7-44187252-T-C c.860A>G p.Q287R Missense 7/10 - 1
7-44187252-T-G c.860A>C p.Q287P Missense 7/10 - 3
7-44187252-TG-AC c.859_860delinsGT p.Q287V Missense 7/10 - 1
7-44187252-TG-AT c.859_860delinsAT p.Q287M Missense 7/10 - 1
7-44187252-TG-CA c.859_860inv p.Q287W Missense 7/10 - 1
7-44187252-TG-CC c.859_860delinsGG p.Q287G Missense 7/10 - 1
7-44187252-TG-GA c.859_860delinsTC p.Q287S Missense 7/10 - 1
7-44187252-TG-GC c.859_860delinsGC p.Q287A Missense 7/10 - 1
7-44187252-TG-GT c.859_860delinsAC p.Q287T Missense 7/10 - 1
7-44187253-G-A c.859C>T p.Q287* Nonsense 7/10 - 1
7-44187253-G-C c.859C>G p.Q287E Missense 7/10 - 1
7-44187253-G-T c.859C>A p.Q287K Missense 7/10 - 3
7-44187254-C-A c.858G>T p.Q286H Missense 7/10 - 1
7-44187254-C-G c.858G>C p.Q286H Missense 7/10 - 1
7-44187254-CTG-AAA c.856_858delinsTTT p.Q286F Missense 7/10 - 1
7-44187254-CTG-ACA c.856_858delinsTGT p.Q286C Missense 7/10 - 1
7-44187254-CTG-ATA c.856_858delinsTAT p.Q286Y Missense 7/10 - 1
7-44187254-CTG-GAT c.856_858delinsATC p.Q286I Missense 7/10 - 1
7-44187254-CTG-GTC c.856_858delinsGAC p.Q286D Missense 7/10 - 1
7-44187254-CTG-GTT c.856_858delinsAAC p.Q286N Missense 7/10 - 1
7-44187255-T-A c.857A>T p.Q286L Missense 7/10 - 1
7-44187255-T-C c.857A>G p.Q286R Missense 7/10 - 1
7-44187255-T-G c.857A>C p.Q286P Missense 7/10 - 1
7-44187255-TG-AC c.856_857delinsGT p.Q286V Missense 7/10 - 1
7-44187255-TG-AT c.856_857delinsAT p.Q286M Missense 7/10 - 1
7-44187255-TG-CA c.856_857inv p.Q286W Missense 7/10 - 1
7-44187255-TG-CC c.856_857delinsGG p.Q286G Missense 7/10 - 1
7-44187255-TG-GA c.856_857delinsTC p.Q286S Missense 7/10 - 1
7-44187255-TG-GC c.856_857delinsGC p.Q286A Missense 7/10 - 1
7-44187255-TG-GT c.856_857delinsAC p.Q286T Missense 7/10 - 1
7-44187256-G-A c.856C>T p.Q286* Nonsense 7/10 - 1
7-44187256-G-C c.856C>G p.Q286E Missense 7/10 - 1
7-44187256-G-T c.856C>A p.Q286K Missense 7/10 - 1
7-44187257-ACC-CAT c.853_855delinsATG p.G285M Missense 7/10 - 1
7-44187257-ACC-CCA c.853_855delinsTGG p.G285W Missense 7/10 - 1
7-44187257-ACC-CTT c.853_855delinsAAG p.G285K Missense 7/10 - 1
7-44187257-AC-CT c.854_855delinsAG p.G285E Missense 7/10 - 1
7-44187257-ACC-TTG c.853_855delinsCAA p.G285Q Missense 7/10 - 1
7-44187258-C-A c.854G>T p.G285V Missense 7/10 - 2
7-44187258-CC-AA c.853_854delinsTT p.G285F Missense 7/10 - 1
7-44187258-CC-AG c.853_854delinsCT p.G285L Missense 7/10 - 1
7-44187258-CC-AT c.853_854delinsAT p.G285I Missense 7/10 - 1
7-44187258-CC-GG c.853_854inv p.G285P Missense 7/10 - 1
7-44187258-CC-GT c.853_854delinsAC p.G285T Missense 7/10 - 1
7-44187258-CC-TA c.853_854delinsTA p.G285Y Missense 7/10 - 1
7-44187258-CC-TG c.853_854delinsCA p.G285H Missense 7/10 - 1
7-44187258-CC-TT c.853_854delinsAA p.G285N Missense 7/10 - 1
7-44187258-C-G c.854G>C p.G285A Missense 7/10 - 1
7-44187258-C-T c.854G>A p.G285D Missense 7/10 - 3
7-44187259-C-A c.853G>T p.G285C Missense 7/10 - 1
7-44187259-C-G c.853G>C p.G285R Missense 7/10 - 2
7-44187259-C-T c.853G>A p.G285S Missense 7/10 - 2
7-44187260-G-A c.852C>T p.P284= Synonymous 7/10 - 2
7-44187260-GGG-CAT c.850_852delinsATG p.P284M Missense 7/10 - 1
7-44187260-GGG-CCA c.850_852delinsTGG p.P284W Missense 7/10 - 1
7-44187260-GGG-CTC c.850_852delinsGAG p.P284E Missense 7/10 - 1
7-44187260-GGG-CTT c.850_852delinsAAG p.P284K Missense 7/10 - 1
7-44187260-GG-TT c.851_852delinsAA p.P284Q Missense 7/10 - 1
7-44187260-G-T c.852C>A p.P284= Synonymous 7/10 - 1
7-44187261-G-A c.851C>T p.P284L Missense 7/10 - 1
7-44187261-G-C c.851C>G p.P284R Missense 7/10 - 1
7-44187261-GG-AA c.850_851delinsTT p.P284F Missense 7/10 - 1
7-44187261-GG-AC c.850_851delinsGT p.P284V Missense 7/10 - 1
7-44187261-GG-AT c.850_851delinsAT p.P284I Missense 7/10 - 1
7-44187261-GG-CA c.850_851delinsTG p.P284C Missense 7/10 - 1
7-44187261-GG-CC c.850_851inv p.P284G Missense 7/10 - 1
7-44187261-GG-TA c.850_851delinsTA p.P284Y Missense 7/10 - 1
7-44187261-GG-TC c.850_851delinsGA p.P284D Missense 7/10 - 1
7-44187261-GG-TT c.850_851delinsAA p.P284N Missense 7/10 - 1
7-44187261-G-T c.851C>A p.P284H Missense 7/10 - 1
7-44187262-G-A c.850C>T p.P284S Missense 7/10 - 1
7-44187262-G-C c.850C>G p.P284A Missense 7/10 - 1
7-44187262-G-T c.850C>A p.P284T Missense 7/10 - 1
7-44187259-CG-C c.852del p.G285Vfs*9 Frameshift 7/10 - 3
7-44187263-G-A c.849C>T p.N283= Synonymous 7/10 - 1
7-44187263-G-C c.849C>G p.N283K Missense 7/10 - 1
7-44187263-G-T c.849C>A p.N283K Missense 7/10 - 2
7-44187263-GT-CA c.848_849delinsTG p.N283M Missense 7/10 - 1
7-44187263-GT-CC c.848_849delinsGG p.N283R Missense 7/10 - 1
7-44187263-GTT-CCA c.847_849delinsTGG p.N283W Missense 7/10 - 1
7-44187263-GTT-CTC c.847_849delinsGAG p.N283E Missense 7/10 - 1
7-44187263-GTT-TTG c.847_849delinsCAA p.N283Q Missense 7/10 - 1
7-44187264-T-A c.848A>T p.N283I Missense 7/10 - 1
7-44187264-T-C c.848A>G p.N283S Missense 7/10 - 1
7-44187264-T-G c.848A>C p.N283T Missense 7/10 - 1
7-44187264-TT-AA c.847_848inv p.N283F Missense 7/10 - 1
7-44187264-TT-AC c.847_848delinsGT p.N283V Missense 7/10 - 1
7-44187264-TT-AG c.847_848delinsCT p.N283L Missense 7/10 - 1
7-44187264-TT-CA c.847_848delinsTG p.N283C Missense 7/10 - 1
7-44187264-TT-CC c.847_848delinsGG p.N283G Missense 7/10 - 1
7-44187264-TT-GC c.847_848delinsGC p.N283A Missense 7/10 - 1
7-44187264-TT-GG c.847_848delinsCC p.N283P Missense 7/10 - 1
7-44187265-T-A c.847A>T p.N283Y Missense 7/10 - 1
7-44187265-T-C c.847A>G p.N283D Missense 7/10 - 1
7-44187265-T-G c.847A>C p.N283H Missense 7/10 - 1
7-44187263-GT-G c.848del p.N283Tfs*11 Frameshift 7/10 - 1
7-44187266-T-A c.846A>T p.A282= Synonymous 7/10 - 1
7-44187266-TGC-AAA c.844_846delinsTTT p.A282F Missense 7/10 - 1
7-44187266-TGC-ACA c.844_846delinsTGT p.A282C Missense 7/10 - 1
7-44187266-TGC-ATA c.844_846delinsTAT p.A282Y Missense 7/10 - 1
7-44187266-TGC-ATG c.844_846delinsCAT p.A282H Missense 7/10 - 1
7-44187266-TGC-CAT c.844_846delinsATG p.A282M Missense 7/10 - 1
7-44187266-TGC-CCA c.844_846delinsTGG p.A282W Missense 7/10 - 1
7-44187266-TGC-GTT c.844_846delinsAAC p.A282N Missense 7/10 - 1
7-44187266-TG-GT c.845_846delinsAC p.A282D Missense 7/10 - 1
7-44187267-G-A c.845C>T p.A282V Missense 7/10 - 1
7-44187267-G-C c.845C>G p.A282G Missense 7/10 - 1
7-44187267-GC-AG c.844_845delinsCT p.A282L Missense 7/10 - 1
7-44187267-GC-AT c.844_845delinsAT p.A282I Missense 7/10 - 1
7-44187267-GC-CT c.844_845delinsAG p.A282R Missense 7/10 - 1
7-44187267-GC-TG c.844_845delinsCA p.A282Q Missense 7/10 - 1
7-44187267-GC-TT c.844_845delinsAA p.A282K Missense 7/10 - 1
7-44187267-G-T c.845C>A p.A282E Missense 7/10 - 1
7-44187268-C-A c.844G>T p.A282S Missense 7/10 - 1
7-44187268-C-G c.844G>C p.A282P Missense 7/10 - 1
7-44187268-C-T c.844G>A p.A282T Missense 7/10 - 1
7-44187269-AGA-CAT c.841_843delinsATG p.S281M Missense 7/10 - 1
7-44187269-AGA-CTC c.841_843delinsGAG p.S281E Missense 7/10 - 1
7-44187269-AGA-CTT c.841_843delinsAAG p.S281K Missense 7/10 - 1
7-44187269-AGA-TTG c.841_843delinsCAA p.S281Q Missense 7/10 - 1
7-44187269-AG-CC c.842_843delinsGG p.S281W Missense 7/10 - 1
7-44187270-G-A c.842C>T p.S281F Missense 7/10 - 3
7-44187270-GA-AC c.841_842delinsGT p.S281V Missense 7/10 - 1
7-44187270-GA-AG c.841_842delinsCT p.S281L Missense 7/10 - 1
7-44187270-GA-AT c.841_842delinsAT p.S281I Missense 7/10 - 1
7-44187270-GA-CC c.841_842delinsGG p.S281G Missense 7/10 - 1
7-44187270-GA-CG c.841_842delinsCG p.S281R Missense 7/10 - 1
7-44187270-GA-TC c.841_842inv p.S281D Missense 7/10 - 1
7-44187270-GA-TG c.841_842delinsCA p.S281H Missense 7/10 - 1
7-44187270-GA-TT c.841_842delinsAA p.S281N Missense 7/10 - 1
7-44187270-G-C c.842C>G p.S281C Missense 7/10 - 1
7-44187270-G-T c.842C>A p.S281Y Missense 7/10 - 1
7-44187271-A-C c.841T>G p.S281A Missense 7/10 - 1
7-44187271-A-G c.841T>C p.S281P Missense 7/10 - 2
7-44187271-A-T c.841T>A p.S281T Missense 7/10 - 1
7-44187272-G-C c.840C>G p.S280R Missense 7/10 - 1
7-44187272-GC-CA c.839_840delinsTG p.S280M Missense 7/10 - 1
7-44187272-GC-CT c.839_840delinsAG p.S280K Missense 7/10 - 1
7-44187272-GCT-CCA c.838_840delinsTGG p.S280W Missense 7/10 - 1
7-44187272-GCT-CTC c.838_840delinsGAG p.S280E Missense 7/10 - 1
7-44187272-GCT-TTG c.838_840delinsCAA p.S280Q Missense 7/10 - 1
7-44187272-G-T c.840C>A p.S280R Missense 7/10 - 1
7-44187274-T-G c.838A>C p.S280R Missense 7/10 - 1
7-44187273-C-A c.839G>T p.S280I Missense 7/10 - 1
7-44187273-C-G c.839G>C p.S280T Missense 7/10 - 1
7-44187273-C-T c.839G>A p.S280N Missense 7/10 - 2
7-44187273-CT-AA c.838_839delinsTT p.S280F Missense 7/10 - 1
7-44187273-CT-AC c.838_839delinsGT p.S280V Missense 7/10 - 1
7-44187273-CT-AG c.838_839inv p.S280L Missense 7/10 - 1
7-44187273-CT-GC c.838_839delinsGC p.S280A Missense 7/10 - 1
7-44187273-CT-GG c.838_839delinsCC p.S280P Missense 7/10 - 1
7-44187273-CT-TA c.838_839delinsTA p.S280Y Missense 7/10 - 1
7-44187273-CT-TC c.838_839delinsGA p.S280D Missense 7/10 - 1
7-44187273-CT-TG c.838_839delinsCA p.S280H Missense 7/10 - 1
7-44187274-T-A c.838A>T p.S280C Missense 7/10 - 1
7-44187274-T-C c.838A>G p.S280G Missense 7/10 - 1
7-44187275-C-A c.837G>T p.E279D Missense 7/10 - 3
7-44187275-C-G c.837G>C p.E279D Missense 7/10 - 1
7-44187275-CTC-AAA c.835_837delinsTTT p.E279F Missense 7/10 - 1
7-44187275-CTC-ACA c.835_837delinsTGT p.E279C Missense 7/10 - 1
7-44187275-CTC-ATA c.835_837delinsTAT p.E279Y Missense 7/10 - 1
7-44187275-CTC-ATG c.835_837delinsCAT p.E279H Missense 7/10 - 1
7-44187275-CTC-GAT c.835_837delinsATC p.E279I Missense 7/10 - 1
7-44187275-CTC-GTT c.835_837delinsAAC p.E279N Missense 7/10 - 1
7-44187272-GCT-G c.838_839del p.S280Lfs*10 Frameshift 7/10 - 1
7-44187276-T-A c.836A>T p.E279V Missense 7/10 - 1
7-44187276-T-C c.836A>G p.E279G Missense 7/10 - 5
7-44187276-TC-AG c.835_836delinsCT p.E279L Missense 7/10 - 1
7-44187276-TC-AT c.835_836delinsAT p.E279M Missense 7/10 - 1
7-44187276-TC-CA c.835_836delinsTG p.E279W Missense 7/10 - 1
7-44187276-TC-CT c.835_836delinsAG p.E279R Missense 7/10 - 1
7-44187276-TC-GA c.835_836inv p.E279S Missense 7/10 - 1
7-44187276-TC-GG c.835_836delinsCC p.E279P Missense 7/10 - 1
7-44187276-TC-GT c.835_836delinsAC p.E279T Missense 7/10 - 1
7-44187276-T-G c.836A>C p.E279A Missense 7/10 - 1
7-44187277-C-A c.835G>T p.E279* Nonsense 7/10 - 2
7-44187277-C-G c.835G>C p.E279Q Missense 7/10 - 7
7-44187277-C-T c.835G>A p.E279K Missense 7/10 - 5
7-44187278-G-A c.834C>T p.D278= Synonymous 7/10 - 4
7-44187278-G-C c.834C>G p.D278E Missense 7/10 - 6
7-44187278-G-T c.834C>A p.D278E Missense 7/10 - 7
7-44187278-GTC-CAT c.832_834delinsATG p.D278M Missense 7/10 - 1
7-44187278-GTC-CCA c.832_834delinsTGG p.D278W Missense 7/10 - 1
7-44187278-GTC-CTT c.832_834delinsAAG p.D278K Missense 7/10 - 1
7-44187278-GTC-TTG c.832_834delinsCAA p.D278Q Missense 7/10 - 1
7-44187279-T-A c.833A>T p.D278V Missense 7/10 - 3
7-44187279-T-C c.833A>G p.D278G Missense 7/10 - 1
7-44187279-TC-AA c.832_833delinsTT p.D278F Missense 7/10 - 1
7-44187279-TC-AG c.832_833delinsCT p.D278L Missense 7/10 - 1
7-44187279-TC-AT c.832_833delinsAT p.D278I Missense 7/10 - 1
7-44187279-TC-CA c.832_833delinsTG p.D278C Missense 7/10 - 1
7-44187279-TC-CG c.832_833delinsCG p.D278R Missense 7/10 - 1
7-44187279-TC-CT c.832_833delinsAG p.D278S Missense 7/10 - 1
7-44187279-TC-GG c.832_833delinsCC p.D278P Missense 7/10 - 1
7-44187279-TC-GT c.832_833delinsAC p.D278T Missense 7/10 - 1
7-44187279-T-G c.833A>C p.D278A Missense 7/10 - 1
7-44187280-C-A c.832G>T p.D278Y Missense 7/10 - 1
7-44187280-C-G c.832G>C p.D278H Missense 7/10 - 3
7-44187280-C-T c.832G>A p.D278N Missense 7/10 - 2
7-44187279-TC-T c.832del p.D278Tfs*16 Frameshift 7/10 - 1
7-44187281-CAC-AAA c.829_831delinsTTT p.V277F Missense 7/10 - 1
7-44187281-CAC-ACA c.829_831delinsTGT p.V277C Missense 7/10 - 1
7-44187281-CAC-ATA c.829_831delinsTAT p.V277Y Missense 7/10 - 1
7-44187281-CAC-ATG c.829_831delinsCAT p.V277H Missense 7/10 - 1
7-44187281-CAC-GAT c.829_831delinsATC p.V277I Missense 7/10 - 1
7-44187281-CAC-GTT c.829_831delinsAAC p.V277N Missense 7/10 - 1
7-44187281-CA-GT c.830_831delinsAC p.V277D Missense 7/10 - 1
7-44187282-A-C c.830T>G p.V277G Missense 7/10 - 1
7-44187282-AC-CA c.829_830delinsTG p.V277W Missense 7/10 - 1
7-44187282-AC-CT c.829_830delinsAG p.V277R Missense 7/10 - 2
7-44187282-AC-GA c.829_830delinsTC p.V277S Missense 7/10 - 1
7-44187282-AC-GG c.829_830delinsCC p.V277P Missense 7/10 - 1
7-44187282-AC-GT c.829_830inv p.V277T Missense 7/10 - 1
7-44187282-AC-TG c.829_830delinsCA p.V277Q Missense 7/10 - 1
7-44187282-AC-TT c.829_830delinsAA p.V277K Missense 7/10 - 1
7-44187282-A-G c.830T>C p.V277A Missense 7/10 - 1
7-44187282-A-T c.830T>A p.V277E Missense 7/10 - 1
7-44187283-C-A c.829G>T p.V277L Missense 7/10 - 1
7-44187283-C-G c.829G>C p.V277L Missense 7/10 - 1
7-44187283-C-T c.829G>A p.V277M Missense 7/10 - 2
7-44187284-CA-AT c.827_828delinsAT p.L276H Missense 7/10 - 1
7-44187284-CAG-AAA c.826_828delinsTTT p.L276F Missense 7/10 - 1
7-44187284-CAG-ACA c.826_828delinsTGT p.L276C Missense 7/10 - 1
7-44187284-CAG-ATA c.826_828delinsTAT p.L276Y Missense 7/10 - 1
7-44187284-CAG-GAT c.826_828delinsATC p.L276I Missense 7/10 - 1
7-44187284-CAG-GTC c.826_828delinsGAC p.L276D Missense 7/10 - 1
7-44187284-CAG-GTT c.826_828delinsAAC p.L276N Missense 7/10 - 1
7-44187285-A-C c.827T>G p.L276R Missense 7/10 - 1
7-44187285-A-G c.827T>C p.L276P Missense 7/10 - 4
7-44187285-AG-CA c.826_827delinsTG p.L276W Missense 7/10 - 1
7-44187285-AG-CC c.826_827delinsGG p.L276G Missense 7/10 - 1
7-44187285-AG-GA c.826_827delinsTC p.L276S Missense 7/10 - 1
7-44187285-AG-GC c.826_827delinsGC p.L276A Missense 7/10 - 1
7-44187285-AG-GT c.826_827delinsAC p.L276T Missense 7/10 - 1
7-44187285-AG-TC c.826_827delinsGA p.L276E Missense 7/10 - 1
7-44187285-AG-TT c.826_827delinsAA p.L276K Missense 7/10 - 1
7-44187285-A-T c.827T>A p.L276Q Missense 7/10 - 1
7-44187286-G-C c.826C>G p.L276V Missense 7/10 - 2
7-44187286-G-T c.826C>A p.L276M Missense 7/10 - 1
7-44187287-GCG-CAT c.823_825delinsATG p.R275M Missense 7/10 - 1
7-44187287-GCG-CCA c.823_825delinsTGG p.R275W Missense 7/10 - 1
7-44187287-GCG-CTC c.823_825delinsGAG p.R275E Missense 7/10 - 1
7-44187287-GCG-CTT c.823_825delinsAAG p.R275K Missense 7/10 - 1
7-44187287-GCG-TCA c.823_825delinsTGA p.R275* Nonsense 7/10 - 1
7-44187287-GC-TT c.824_825delinsAA p.R275Q Missense 7/10 - 1
7-44187288-C-A c.824G>T p.R275L Missense 7/10 - 5
7-44187288-C-G c.824G>C p.R275P Missense 7/10 - 4
7-44187288-CG-AA c.823_824delinsTT p.R275F Missense 7/10 - 1
7-44187288-CG-AC c.823_824delinsGT p.R275V Missense 7/10 - 1
7-44187288-CG-AT c.823_824delinsAT p.R275I Missense 7/10 - 1
7-44187288-CG-GC c.823_824delinsGC p.R275A Missense 7/10 - 1
7-44187288-CG-GT c.823_824delinsAC p.R275T Missense 7/10 - 1
7-44187288-CG-TA c.823_824delinsTA p.R275Y Missense 7/10 - 1
7-44187288-CG-TC c.823_824delinsGA p.R275D Missense 7/10 - 1
7-44187288-CG-TT c.823_824delinsAA p.R275N Missense 7/10 - 1
7-44187288-C-T c.824G>A p.R275H Missense 7/10 - 7
7-44187289-G-A c.823C>T p.R275C Missense 7/10 - 16
7-44187289-G-C c.823C>G p.R275G Missense 7/10 - 1
7-44187289-G-T c.823C>A p.R275S Missense 7/10 - 1
7-44187290-G-A c.822C>T p.D274= Synonymous 7/10 - 1
7-44187290-G-C c.822C>G p.D274E Missense 7/10 - 2
7-44187290-G-T c.822C>A p.D274E Missense 7/10 - 4
7-44187290-GTC-CAT c.820_822delinsATG p.D274M Missense 7/10 - 1
7-44187290-GTC-CCA c.820_822delinsTGG p.D274W Missense 7/10 - 1
7-44187290-GTC-CTT c.820_822delinsAAG p.D274K Missense 7/10 - 1
7-44187290-GTC-TTG c.820_822delinsCAA p.D274Q Missense 7/10 - 1
7-44187291-T-A c.821A>T p.D274V Missense 7/10 - 1
7-44187291-T-C c.821A>G p.D274G Missense 7/10 - 2
7-44187291-TC-AA c.820_821delinsTT p.D274F Missense 7/10 - 1
7-44187291-TC-AG c.820_821delinsCT p.D274L Missense 7/10 - 1
7-44187291-TC-AT c.820_821delinsAT p.D274I Missense 7/10 - 1
7-44187291-TC-CA c.820_821delinsTG p.D274C Missense 7/10 - 1
7-44187291-TC-CG c.820_821delinsCG p.D274R Missense 7/10 - 1
7-44187291-TC-CT c.820_821delinsAG p.D274S Missense 7/10 - 1
7-44187291-TC-GG c.820_821delinsCC p.D274P Missense 7/10 - 1
7-44187291-TC-GT c.820_821delinsAC p.D274T Missense 7/10 - 1
7-44187291-T-G c.821A>C p.D274A Missense 7/10 - 1
7-44187292-C-A c.820G>T p.D274Y Missense 7/10 - 1
7-44187292-C-G c.820G>C p.D274H Missense 7/10 - 1
7-44187292-C-T c.820G>A p.D274N Missense 7/10 - 2
7-44187293-ATA-CAT c.817_819delinsATG p.Y273M Missense 7/10 - 1
7-44187293-ATA-CTC c.817_819delinsGAG p.Y273E Missense 7/10 - 1
7-44187293-ATA-CTT c.817_819delinsAAG p.Y273K Missense 7/10 - 1
7-44187293-ATA-TTG c.817_819delinsCAA p.Y273Q Missense 7/10 - 1
7-44187293-AT-CC c.818_819delinsGG p.Y273W Missense 7/10 - 1
7-44187294-T-A c.818A>T p.Y273F Missense 7/10 - 1
7-44187294-TA-AC c.817_818delinsGT p.Y273V Missense 7/10 - 1
7-44187294-TA-AG c.817_818delinsCT p.Y273L Missense 7/10 - 1
7-44187294-TA-AT c.817_818delinsAT p.Y273I Missense 7/10 - 1
7-44187294-TA-CC c.817_818delinsGG p.Y273G Missense 7/10 - 1
7-44187294-TA-CG c.817_818delinsCG p.Y273R Missense 7/10 - 1
7-44187294-TA-GC c.817_818delinsGC p.Y273A Missense 7/10 - 1
7-44187294-TA-GG c.817_818delinsCC p.Y273P Missense 7/10 - 1
7-44187294-TA-GT c.817_818delinsAC p.Y273T Missense 7/10 - 1
7-44187294-T-C c.818A>G p.Y273C Missense 7/10 - 1
7-44187294-T-G c.818A>C p.Y273S Missense 7/10 - 1
7-44187295-A-C c.817T>G p.Y273D Missense 7/10 - 1
7-44187295-A-G c.817T>C p.Y273H Missense 7/10 - 1
7-44187295-A-T c.817T>A p.Y273N Missense 7/10 - 2
7-44187296-C-A c.816G>T p.E272D Missense 7/10 - 1
7-44187296-C-G c.816G>C p.E272D Missense 7/10 - 1
7-44187296-CTC-AAA c.814_816delinsTTT p.E272F Missense 7/10 - 1
7-44187296-CTC-ACA c.814_816delinsTGT p.E272C Missense 7/10 - 1
7-44187296-CTC-ATA c.814_816delinsTAT p.E272Y Missense 7/10 - 1
7-44187296-CTC-ATG c.814_816delinsCAT p.E272H Missense 7/10 - 1
7-44187296-CTC-GAT c.814_816delinsATC p.E272I Missense 7/10 - 1
7-44187296-CTC-GTT c.814_816delinsAAC p.E272N Missense 7/10 - 1
7-44187297-T-A c.815A>T p.E272V Missense 7/10 - 1
7-44187297-T-C c.815A>G p.E272G Missense 7/10 - 1
7-44187297-TC-AG c.814_815delinsCT p.E272L Missense 7/10 - 1
7-44187297-TC-AT c.814_815delinsAT p.E272M Missense 7/10 - 1
7-44187297-TC-CA c.814_815delinsTG p.E272W Missense 7/10 - 1
7-44187297-TC-CT c.814_815delinsAG p.E272R Missense 7/10 - 1
7-44187297-TC-GA c.814_815inv p.E272S Missense 7/10 - 1
7-44187297-TC-GG c.814_815delinsCC p.E272P Missense 7/10 - 1
7-44187297-TC-GT c.814_815delinsAC p.E272T Missense 7/10 - 1
7-44187297-T-G c.815A>C p.E272A Missense 7/10 - 2
7-44187298-C-G c.814G>C p.E272Q Missense 7/10 - 1
7-44187298-C-T c.814G>A p.E272K Missense 7/10 - 1
7-44187299-CA-AT c.812_813delinsAT p.L271H Missense 7/10 - 1
7-44187299-CAG-AAA c.811_813delinsTTT p.L271F Missense 7/10 - 1
7-44187299-CAG-ACA c.811_813delinsTGT p.L271C Missense 7/10 - 1
7-44187299-CAG-ATA c.811_813delinsTAT p.L271Y Missense 7/10 - 1
7-44187299-CAG-GAT c.811_813delinsATC p.L271I Missense 7/10 - 1
7-44187299-CAG-GTC c.811_813delinsGAC p.L271D Missense 7/10 - 1
7-44187299-CAG-GTT c.811_813delinsAAC p.L271N Missense 7/10 - 1
7-44187299-C-T c.813G>A p.L271= Synonymous 7/10 - 1
7-44187300-A-C c.812T>G p.L271R Missense 7/10 - 1
7-44187300-A-G c.812T>C p.L271P Missense 7/10 - 6
7-44187300-AG-CA c.811_812delinsTG p.L271W Missense 7/10 - 1
7-44187300-AG-CC c.811_812delinsGG p.L271G Missense 7/10 - 1
7-44187300-AG-GA c.811_812delinsTC p.L271S Missense 7/10 - 1
7-44187300-AG-GC c.811_812delinsGC p.L271A Missense 7/10 - 1
7-44187300-AG-GT c.811_812delinsAC p.L271T Missense 7/10 - 1
7-44187300-AG-TC c.811_812delinsGA p.L271E Missense 7/10 - 1
7-44187300-AG-TT c.811_812delinsAA p.L271K Missense 7/10 - 1
7-44187300-A-T c.812T>A p.L271Q Missense 7/10 - 1
7-44187301-G-A c.811C>T p.L271= Synonymous 7/10 - 4
7-44187301-G-C c.811C>G p.L271V Missense 7/10 - 1
7-44187301-G-T c.811C>A p.L271M Missense 7/10 - 4
7-44187302-CA-AT c.809_810delinsAT p.L270H Missense 7/10 - 1
7-44187302-CAG-AAA c.808_810delinsTTT p.L270F Missense 7/10 - 1
7-44187302-CAG-ACA c.808_810delinsTGT p.L270C Missense 7/10 - 1
7-44187302-CAG-ATA c.808_810delinsTAT p.L270Y Missense 7/10 - 1
7-44187302-CAG-GAT c.808_810delinsATC p.L270I Missense 7/10 - 1
7-44187302-CAG-GTC c.808_810delinsGAC p.L270D Missense 7/10 - 1
7-44187302-CAG-GTT c.808_810delinsAAC p.L270N Missense 7/10 - 1
7-44187303-A-C c.809T>G p.L270R Missense 7/10 - 1
7-44187303-A-G c.809T>C p.L270P Missense 7/10 - 1
7-44187303-AG-CA c.808_809delinsTG p.L270W Missense 7/10 - 1
7-44187303-AG-CC c.808_809delinsGG p.L270G Missense 7/10 - 1
7-44187303-AG-GA c.808_809delinsTC p.L270S Missense 7/10 - 1
7-44187303-AG-GC c.808_809delinsGC p.L270A Missense 7/10 - 1
7-44187303-AG-GT c.808_809delinsAC p.L270T Missense 7/10 - 1
7-44187303-AG-TC c.808_809delinsGA p.L270E Missense 7/10 - 1
7-44187303-AG-TT c.808_809delinsAA p.L270K Missense 7/10 - 1
7-44187303-A-T c.809T>A p.L270Q Missense 7/10 - 1
7-44187304-G-C c.808C>G p.L270V Missense 7/10 - 3
7-44187304-G-T c.808C>A p.L270M Missense 7/10 - 2
7-44187305-G-C c.807C>G p.F269L Missense 7/10 - 2
7-44187305-G-T c.807C>A p.F269L Missense 7/10 - 1
7-44187307-A-G c.805T>C p.F269L Missense 7/10 - 2
7-44187308-C-A c.804G>T p.E268D Missense 7/10 - 1
7-44187308-C-G c.804G>C p.E268D Missense 7/10 - 1
7-44187308-CTC-AAA c.802_804delinsTTT p.E268F Missense 7/10 - 1
7-44187308-CTC-ACA c.802_804delinsTGT p.E268C Missense 7/10 - 1
7-44187308-CTC-ATA c.802_804delinsTAT p.E268Y Missense 7/10 - 1
7-44187308-CTC-ATG c.802_804delinsCAT p.E268H Missense 7/10 - 1
7-44187308-CTC-GAT c.802_804delinsATC p.E268I Missense 7/10 - 1
7-44187308-CTC-GTT c.802_804delinsAAC p.E268N Missense 7/10 - 1
7-44187309-T-A c.803A>T p.E268V Missense 7/10 - 1
7-44187309-T-C c.803A>G p.E268G Missense 7/10 - 1
7-44187309-TC-AG c.802_803delinsCT p.E268L Missense 7/10 - 1
7-44187309-TC-AT c.802_803delinsAT p.E268M Missense 7/10 - 1
7-44187309-TC-CA c.802_803delinsTG p.E268W Missense 7/10 - 1
7-44187309-TC-CT c.802_803delinsAG p.E268R Missense 7/10 - 1
7-44187309-TC-GA c.802_803inv p.E268S Missense 7/10 - 1
7-44187309-TC-GG c.802_803delinsCC p.E268P Missense 7/10 - 1
7-44187309-TC-GT c.802_803delinsAC p.E268T Missense 7/10 - 1
7-44187309-T-G c.803A>C p.E268A Missense 7/10 - 1
7-44187310-C-A c.802G>T p.E268* Nonsense 7/10 - 1
7-44187310-C-G c.802G>C p.E268Q Missense 7/10 - 1
7-44187310-C-T c.802G>A p.E268K Missense 7/10 - 4
7-44187311-G-A c.801C>T p.D267= Synonymous 7/10 - 2
7-44187311-G-C c.801C>G p.D267E Missense 7/10 - 2
7-44187311-G-T c.801C>A p.D267E Missense 7/10 - 1
7-44187311-GTC-CAT c.799_801delinsATG p.D267M Missense 7/10 - 1
7-44187311-GTC-CCA c.799_801delinsTGG p.D267W Missense 7/10 - 1
7-44187311-GTC-CTT c.799_801delinsAAG p.D267K Missense 7/10 - 1
7-44187311-GTC-TTG c.799_801delinsCAA p.D267Q Missense 7/10 - 1
7-44187312-T-A c.800A>T p.D267V Missense 7/10 - 1
7-44187312-T-C c.800A>G p.D267G Missense 7/10 - 1
7-44187312-TC-AA c.799_800delinsTT p.D267F Missense 7/10 - 1
7-44187312-TC-AG c.799_800delinsCT p.D267L Missense 7/10 - 1
7-44187312-TC-AT c.799_800delinsAT p.D267I Missense 7/10 - 1
7-44187312-TC-CA c.799_800delinsTG p.D267C Missense 7/10 - 1
7-44187312-TC-CG c.799_800delinsCG p.D267R Missense 7/10 - 1
7-44187312-TC-CT c.799_800delinsAG p.D267S Missense 7/10 - 1
7-44187312-TC-GG c.799_800delinsCC p.D267P Missense 7/10 - 1
7-44187312-TC-GT c.799_800delinsAC p.D267T Missense 7/10 - 1
7-44187312-T-G c.800A>C p.D267A Missense 7/10 - 1
7-44187313-C-A c.799G>T p.D267Y Missense 7/10 - 1
7-44187313-C-G c.799G>C p.D267H Missense 7/10 - 1
7-44187313-C-T c.799G>A p.D267N Missense 7/10 - 2
7-44187314-C-A c.798G>T p.L266= Synonymous 7/10 - 1
7-44187314-CA-AT c.797_798delinsAT p.L266H Missense 7/10 - 1
7-44187314-CAG-AAA c.796_798delinsTTT p.L266F Missense 7/10 - 1
7-44187314-CAG-ACA c.796_798delinsTGT p.L266C Missense 7/10 - 1
7-44187314-CAG-ATA c.796_798delinsTAT p.L266Y Missense 7/10 - 1
7-44187314-CAG-GAT c.796_798delinsATC p.L266I Missense 7/10 - 1
7-44187314-CAG-GTC c.796_798delinsGAC p.L266D Missense 7/10 - 1
7-44187314-CAG-GTT c.796_798delinsAAC p.L266N Missense 7/10 - 1
7-44187314-C-G c.798G>C p.L266= Synonymous 7/10 - 1
7-44187314-C-T c.798G>A p.L266= Synonymous 7/10 - 1
7-44187316-G-A c.796C>T p.L266= Synonymous 7/10 - 2
7-44187315-A-C c.797T>G p.L266R Missense 7/10 - 1
7-44187315-A-G c.797T>C p.L266P Missense 7/10 - 1
7-44187315-AG-CA c.796_797delinsTG p.L266W Missense 7/10 - 1
7-44187315-AG-CC c.796_797delinsGG p.L266G Missense 7/10 - 1
7-44187315-AG-GA c.796_797delinsTC p.L266S Missense 7/10 - 1
7-44187315-AG-GC c.796_797delinsGC p.L266A Missense 7/10 - 1
7-44187315-AG-GT c.796_797delinsAC p.L266T Missense 7/10 - 1
7-44187315-AG-TC c.796_797delinsGA p.L266E Missense 7/10 - 1
7-44187315-AG-TT c.796_797delinsAA p.L266K Missense 7/10 - 1
7-44187315-A-T c.797T>A p.L266Q Missense 7/10 - 2
7-44187316-G-C c.796C>G p.L266V Missense 7/10 - 1
7-44187316-G-T c.796C>A p.L266M Missense 7/10 - 1
7-44187317-C-A c.795G>T p.E265D Missense 7/10 - 1
7-44187317-C-G c.795G>C p.E265D Missense 7/10 - 1
7-44187317-CTC-AAA c.793_795delinsTTT p.E265F Missense 7/10 - 1
7-44187317-CTC-ACA c.793_795delinsTGT p.E265C Missense 7/10 - 1
7-44187317-CTC-ATA c.793_795delinsTAT p.E265Y Missense 7/10 - 1
7-44187317-CTC-ATG c.793_795delinsCAT p.E265H Missense 7/10 - 1
7-44187317-CTC-GAT c.793_795delinsATC p.E265I Missense 7/10 - 1
7-44187317-CTC-GTT c.793_795delinsAAC p.E265N Missense 7/10 - 1
7-44187318-T-A c.794A>T p.E265V Missense 7/10 - 3
7-44187318-T-C c.794A>G p.E265G Missense 7/10 - 1
7-44187318-TC-AG c.793_794delinsCT p.E265L Missense 7/10 - 1
7-44187318-TC-AT c.793_794delinsAT p.E265M Missense 7/10 - 1
7-44187318-TC-CA c.793_794delinsTG p.E265W Missense 7/10 - 1
7-44187318-TC-CT c.793_794delinsAG p.E265R Missense 7/10 - 1
7-44187318-TC-GA c.793_794inv p.E265S Missense 7/10 - 1
7-44187318-TC-GG c.793_794delinsCC p.E265P Missense 7/10 - 1
7-44187318-TC-GT c.793_794delinsAC p.E265T Missense 7/10 - 1
7-44187318-T-G c.794A>C p.E265A Missense 7/10 - 1
7-44187319-C-A c.793G>T p.E265* Nonsense 7/10 - 1
7-44187319-C-G c.793G>C p.E265Q Missense 7/10 - 1
7-44187319-C-T c.793G>A p.E265K Missense 7/10 - 10
7-44187320-G-A c.792C>T p.G264= Synonymous 7/10 - 2
7-44187320-G-C c.792C>G p.G264= Synonymous 7/10 - 1
7-44187320-GCC-CAT c.790_792delinsATG p.G264M Missense 7/10 - 1
7-44187320-GCC-CCA c.790_792delinsTGG p.G264W Missense 7/10 - 1
7-44187320-GCC-CTT c.790_792delinsAAG p.G264K Missense 7/10 - 1
7-44187320-GC-CT c.791_792delinsAG p.G264E Missense 7/10 - 1
7-44187320-GCC-TTG c.790_792delinsCAA p.G264Q Missense 7/10 - 1
7-44187320-G-T c.792C>A p.G264= Synonymous 7/10 - 2
7-44187321-C-A c.791G>T p.G264V Missense 7/10 - 1
7-44187321-CC-AA c.790_791delinsTT p.G264F Missense 7/10 - 1
7-44187321-CC-AG c.790_791delinsCT p.G264L Missense 7/10 - 1
7-44187321-CC-AT c.790_791delinsAT p.G264I Missense 7/10 - 1
7-44187321-CC-GG c.790_791inv p.G264P Missense 7/10 - 1
7-44187321-CC-GT c.790_791delinsAC p.G264T Missense 7/10 - 1
7-44187321-CC-TA c.790_791delinsTA p.G264Y Missense 7/10 - 1
7-44187321-CC-TG c.790_791delinsCA p.G264H Missense 7/10 - 1
7-44187321-CC-TT c.790_791delinsAA p.G264N Missense 7/10 - 1
7-44187321-C-G c.791G>C p.G264A Missense 7/10 - 1
7-44187321-C-T c.791G>A p.G264D Missense 7/10 - 2
7-44187322-C-A c.790G>T p.G264C Missense 7/10 - 1
7-44187322-C-G c.790G>C p.G264R Missense 7/10 - 1
7-44187322-C-T c.790G>A p.G264S Missense 7/10 - 10
7-44187323-GGA-CAT c.787_789delinsATG p.S263M Missense 7/10 - 1
7-44187323-GGA-CTC c.787_789delinsGAG p.S263E Missense 7/10 - 1
7-44187323-GGA-CTT c.787_789delinsAAG p.S263K Missense 7/10 - 1
7-44187323-GGA-TTG c.787_789delinsCAA p.S263Q Missense 7/10 - 1
7-44187323-GG-CC c.788_789inv p.S263W Missense 7/10 - 1
7-44187324-G-A c.788C>T p.S263F Missense 7/10 - 2
7-44187324-GA-AC c.787_788delinsGT p.S263V Missense 7/10 - 1
7-44187324-GA-AG c.787_788delinsCT p.S263L Missense 7/10 - 1
7-44187324-GA-AT c.787_788delinsAT p.S263I Missense 7/10 - 1
7-44187324-GA-CC c.787_788delinsGG p.S263G Missense 7/10 - 1
7-44187324-GA-CG c.787_788delinsCG p.S263R Missense 7/10 - 1
7-44187324-GA-TC c.787_788inv p.S263D Missense 7/10 - 1
7-44187324-GA-TG c.787_788delinsCA p.S263H Missense 7/10 - 1
7-44187324-GA-TT c.787_788delinsAA p.S263N Missense 7/10 - 1
7-44187324-G-C c.788C>G p.S263C Missense 7/10 - 1
7-44187324-G-T c.788C>A p.S263Y Missense 7/10 - 2
7-44187325-A-C c.787T>G p.S263A Missense 7/10 - 2
7-44187325-A-G c.787T>C p.S263P Missense 7/10 - 16
7-44187325-A-T c.787T>A p.S263T Missense 7/10 - 1
7-44187326-G-C c.786C>G p.D262E Missense 7/10 - 1
7-44187326-G-T c.786C>A p.D262E Missense 7/10 - 1
7-44187326-GTC-CAT c.784_786delinsATG p.D262M Missense 7/10 - 1
7-44187326-GTC-CCA c.784_786delinsTGG p.D262W Missense 7/10 - 1
7-44187326-GTC-CTT c.784_786delinsAAG p.D262K Missense 7/10 - 1
7-44187326-GTC-TTG c.784_786delinsCAA p.D262Q Missense 7/10 - 1
7-44187327-T-A c.785A>T p.D262V Missense 7/10 - 1
7-44187327-T-C c.785A>G p.D262G Missense 7/10 - 1
7-44187327-TC-AA c.784_785delinsTT p.D262F Missense 7/10 - 1
7-44187327-TC-AG c.784_785delinsCT p.D262L Missense 7/10 - 1
7-44187327-TC-AT c.784_785delinsAT p.D262I Missense 7/10 - 1
7-44187327-TC-CA c.784_785delinsTG p.D262C Missense 7/10 - 1
7-44187327-TC-CG c.784_785delinsCG p.D262R Missense 7/10 - 1
7-44187327-TC-CT c.784_785delinsAG p.D262S Missense 7/10 - 1
7-44187327-TC-GG c.784_785delinsCC p.D262P Missense 7/10 - 1
7-44187327-TC-GT c.784_785delinsAC p.D262T Missense 7/10 - 1
7-44187327-T-G c.785A>C p.D262A Missense 7/10 - 1
7-44187328-C-A c.784G>T p.D262Y Missense 7/10 - 1
7-44187328-C-G c.784G>C p.D262H Missense 7/10 - 1
7-44187328-C-T c.784G>A p.D262N Missense 7/10 - 11
7-44187329-CCC-AAA c.781_783delinsTTT p.G261F Missense 7/10 - 1
7-44187329-CCC-ACA c.781_783delinsTGT p.G261C Missense 7/10 - 1
7-44187329-CCC-ATA c.781_783delinsTAT p.G261Y Missense 7/10 - 1
7-44187329-CCC-ATG c.781_783delinsCAT p.G261H Missense 7/10 - 1
7-44187329-CCC-GAT c.781_783delinsATC p.G261I Missense 7/10 - 1
7-44187329-CCC-GCT c.781_783delinsAGC p.G261S Missense 7/10 - 1
7-44187329-CCC-GTT c.781_783delinsAAC p.G261N Missense 7/10 - 1
7-44187329-CC-GT c.782_783delinsAC p.G261D Missense 7/10 - 1
7-44187330-C-A c.782G>T p.G261V Missense 7/10 - 1
7-44187330-CC-AG c.781_782delinsCT p.G261L Missense 7/10 - 1
7-44187330-CC-AT c.781_782delinsAT p.G261M Missense 7/10 - 1
7-44187330-CC-GG c.781_782inv p.G261P Missense 7/10 - 1
7-44187330-CC-GT c.781_782delinsAC p.G261T Missense 7/10 - 1
7-44187330-CC-TG c.781_782delinsCA p.G261Q Missense 7/10 - 1
7-44187330-CC-TT c.781_782delinsAA p.G261K Missense 7/10 - 1
7-44187330-C-G c.782G>C p.G261A Missense 7/10 - 2
7-44187330-C-T c.782G>A p.G261E Missense 7/10 - 5
7-44187327-TC-T c.784del p.D262Tfs*32 Frameshift 7/10 - 1
7-44187331-C-A c.781G>T p.G261W Missense 7/10 - 2
7-44187331-C-G c.781G>C p.G261R Missense 7/10 - 19
7-44187331-C-T c.781G>A p.G261R Missense 7/10 - 32
7-44187332-G-A c.780C>T p.F260= Synonymous 7/10 - 1
7-44187332-GAA-CAT c.778_780delinsATG p.F260M Missense 7/10 - 1
7-44187332-GAA-CTC c.778_780delinsGAG p.F260E Missense 7/10 - 1
7-44187332-GAA-CTT c.778_780delinsAAG p.F260K Missense 7/10 - 1
7-44187332-GAA-TTG c.778_780delinsCAA p.F260Q Missense 7/10 - 1
7-44187332-GA-CC c.779_780delinsGG p.F260W Missense 7/10 - 1
7-44187333-AA-CC c.778_779delinsGG p.F260G Missense 7/10 - 1
7-44187333-AA-CG c.778_779delinsCG p.F260R Missense 7/10 - 1
7-44187333-AA-GC c.778_779delinsGC p.F260A Missense 7/10 - 1
7-44187333-AA-GG c.778_779delinsCC p.F260P Missense 7/10 - 1
7-44187333-AA-GT c.778_779delinsAC p.F260T Missense 7/10 - 1
7-44187333-AA-TC c.778_779delinsGA p.F260D Missense 7/10 - 1
7-44187333-AA-TG c.778_779delinsCA p.F260H Missense 7/10 - 1
7-44187333-AA-TT c.778_779inv p.F260N Missense 7/10 - 1
7-44187333-A-C c.779T>G p.F260C Missense 7/10 - 1
7-44187333-A-G c.779T>C p.F260S Missense 7/10 - 5
7-44187333-A-T c.779T>A p.F260Y Missense 7/10 - 1
7-44187332-GA-G c.779del p.F260Sfs*34 Frameshift 7/10 - 1
7-44187332-G-C c.780C>G p.F260L Missense 7/10 - 2
7-44187332-G-T c.780C>A p.F260L Missense 7/10 - 2
7-44187334-A-C c.778T>G p.F260V Missense 7/10 - 4
7-44187334-A-G c.778T>C p.F260L Missense 7/10 - 2
7-44187334-A-T c.778T>A p.F260I Missense 7/10 - 1
7-44187335-GGC-CAT c.775_777delinsATG p.A259M Missense 7/10 - 1
7-44187335-GGC-CCA c.775_777delinsTGG p.A259W Missense 7/10 - 1
7-44187335-GGC-CTT c.775_777delinsAAG p.A259K Missense 7/10 - 1
7-44187335-GG-CT c.776_777delinsAG p.A259E Missense 7/10 - 1
7-44187335-GGC-TTG c.775_777delinsCAA p.A259Q Missense 7/10 - 1
7-44187336-G-A c.776C>T p.A259V Missense 7/10 - 4
7-44187336-G-C c.776C>G p.A259G Missense 7/10 - 1
7-44187336-GC-AA c.775_776delinsTT p.A259F Missense 7/10 - 1
7-44187336-GC-AG c.775_776delinsCT p.A259L Missense 7/10 - 1
7-44187336-GC-AT c.775_776delinsAT p.A259I Missense 7/10 - 1
7-44187336-GC-CA c.775_776delinsTG p.A259C Missense 7/10 - 1
7-44187336-GC-CG c.775_776delinsCG p.A259R Missense 7/10 - 1
7-44187336-GC-TA c.775_776delinsTA p.A259Y Missense 7/10 - 1
7-44187336-GC-TG c.775_776delinsCA p.A259H Missense 7/10 - 1
7-44187336-GC-TT c.775_776delinsAA p.A259N Missense 7/10 - 1
7-44187336-G-T c.776C>A p.A259D Missense 7/10 - 1
7-44187337-C-A c.775G>T p.A259S Missense 7/10 - 2
7-44187337-C-G c.775G>C p.A259P Missense 7/10 - 1
7-44187337-C-T c.775G>A p.A259T Missense 7/10 - 19
7-44187338-G-A c.774C>T p.G258= Synonymous 7/10 - 2
7-44187338-GCC-CAT c.772_774delinsATG p.G258M Missense 7/10 - 1
7-44187338-GCC-CCA c.772_774delinsTGG p.G258W Missense 7/10 - 1
7-44187338-GCC-CTT c.772_774delinsAAG p.G258K Missense 7/10 - 1
7-44187338-GC-CT c.773_774delinsAG p.G258E Missense 7/10 - 1
7-44187338-GCC-TTG c.772_774delinsCAA p.G258Q Missense 7/10 - 1
7-44187339-C-A c.773G>T p.G258V Missense 7/10 - 2
7-44187339-CC-AA c.772_773delinsTT p.G258F Missense 7/10 - 1
7-44187339-CC-AG c.772_773delinsCT p.G258L Missense 7/10 - 1
7-44187339-CC-AT c.772_773delinsAT p.G258I Missense 7/10 - 1
7-44187339-CC-GG c.772_773inv p.G258P Missense 7/10 - 1
7-44187339-CC-GT c.772_773delinsAC p.G258T Missense 7/10 - 1
7-44187339-CC-TA c.772_773delinsTA p.G258Y Missense 7/10 - 1
7-44187339-CC-TG c.772_773delinsCA p.G258H Missense 7/10 - 1
7-44187339-CC-TT c.772_773delinsAA p.G258N Missense 7/10 - 1
7-44187339-C-G c.773G>C p.G258A Missense 7/10 - 1
7-44187339-C-T c.773G>A p.G258D Missense 7/10 - 5
7-44187340-C-A c.772G>T p.G258C Missense 7/10 - 9
7-44187340-C-G c.772G>C p.G258R Missense 7/10 - 4
7-44187340-C-T c.772G>A p.G258S Missense 7/10 - 6
7-44187341-C-A c.771G>T p.W257C Missense 7/10 - 1
7-44187341-CC-AA c.770_771delinsTT p.W257F Missense 7/10 - 5
7-44187341-CCA-ATG c.769_771delinsCAT p.W257H Missense 7/10 - 1
7-44187341-CCA-GAT c.769_771delinsATC p.W257I Missense 7/10 - 1
7-44187341-CCA-GTC c.769_771delinsGAC p.W257D Missense 7/10 - 1
7-44187341-CCA-GTT c.769_771delinsAAC p.W257N Missense 7/10 - 1
7-44187341-CC-AT c.770_771delinsAT p.W257Y Missense 7/10 - 1
7-44187341-C-G c.771G>C p.W257C Missense 7/10 - 2
7-44187341-C-T c.771G>A p.W257* Nonsense 7/10 - 3
7-44187342-C-A c.770G>T p.W257L Missense 7/10 - 2
7-44187342-CA-AC c.769_770delinsGT p.W257V Missense 7/10 - 1
7-44187342-CA-AT c.769_770delinsAT p.W257M Missense 7/10 - 1
7-44187342-CA-GC c.769_770delinsGC p.W257A Missense 7/10 - 1
7-44187342-CA-GG c.769_770delinsCC p.W257P Missense 7/10 - 1
7-44187342-CA-GT c.769_770delinsAC p.W257T Missense 7/10 - 2
7-44187342-CA-TC c.769_770delinsGA p.W257E Missense 7/10 - 1
7-44187342-CA-TG c.769_770inv p.W257Q Missense 7/10 - 1
7-44187342-CA-TT c.769_770delinsAA p.W257K Missense 7/10 - 1
7-44187342-C-G c.770G>C p.W257S Missense 7/10 - 2
7-44187342-C-T c.770G>A p.W257* Nonsense 7/10 - 1
7-44187342-C-CA c.769dup p.W257Lfs*18 Frameshift 7/10 - 1
7-44187343-A-C c.769T>G p.W257G Missense 7/10 - 1
7-44187343-A-G c.769T>C p.W257R Missense 7/10 - 9
7-44187343-A-T c.769T>A p.W257R Missense 7/10 - 7
7-44187344-C-A c.768G>T p.E256D Missense 7/10 - 2
7-44187344-C-G c.768G>C p.E256D Missense 7/10 - 5
7-44187344-CTC-AAA c.766_768delinsTTT p.E256F Missense 7/10 - 1
7-44187344-CTC-ACA c.766_768delinsTGT p.E256C Missense 7/10 - 1
7-44187344-CTC-ATA c.766_768delinsTAT p.E256Y Missense 7/10 - 1
7-44187344-CTC-ATG c.766_768delinsCAT p.E256H Missense 7/10 - 1
7-44187344-CTC-GAT c.766_768delinsATC p.E256I Missense 7/10 - 1
7-44187344-CTC-GTT c.766_768delinsAAC p.E256N Missense 7/10 - 1
7-44187345-T-A c.767A>T p.E256V Missense 7/10 - 1
7-44187345-T-C c.767A>G p.E256G Missense 7/10 - 1
7-44187345-TC-AG c.766_767delinsCT p.E256L Missense 7/10 - 1
7-44187345-TC-AT c.766_767delinsAT p.E256M Missense 7/10 - 1
7-44187345-TC-CA c.766_767delinsTG p.E256W Missense 7/10 - 1
7-44187345-TC-CT c.766_767delinsAG p.E256R Missense 7/10 - 1
7-44187345-TC-GA c.766_767inv p.E256S Missense 7/10 - 1
7-44187345-TC-GG c.766_767delinsCC p.E256P Missense 7/10 - 1
7-44187345-TC-GT c.766_767delinsAC p.E256T Missense 7/10 - 1
7-44187345-T-G c.767A>C p.E256A Missense 7/10 - 4
7-44187346-C-A c.766G>T p.E256* Nonsense 7/10 - 1
7-44187346-C-G c.766G>C p.E256Q Missense 7/10 - 4
7-44187346-C-T c.766G>A p.E256K Missense 7/10 - 25
7-44187347-GG-CA c.764_765delinsTG p.T255M Missense 7/10 - 1
7-44187347-GG-CC c.764_765inv p.T255R Missense 7/10 - 1
7-44187347-GG-CT c.764_765delinsAG p.T255K Missense 7/10 - 1
7-44187347-GGT-CCA c.763_765delinsTGG p.T255W Missense 7/10 - 1
7-44187347-GGT-CTC c.763_765delinsGAG p.T255E Missense 7/10 - 1
7-44187347-GGT-TTG c.763_765delinsCAA p.T255Q Missense 7/10 - 1
7-44187348-G-A c.764C>T p.T255I Missense 7/10 - 3
7-44187348-G-C c.764C>G p.T255S Missense 7/10 - 5
7-44187348-G-T c.764C>A p.T255N Missense 7/10 - 2
7-44187348-GT-AA c.763_764delinsTT p.T255F Missense 7/10 - 1
7-44187348-GT-AC c.763_764inv p.T255V Missense 7/10 - 1
7-44187348-GT-AG c.763_764delinsCT p.T255L Missense 7/10 - 1
7-44187348-GT-CA c.763_764delinsTG p.T255C Missense 7/10 - 1
7-44187348-GT-CC c.763_764delinsGG p.T255G Missense 7/10 - 1
7-44187348-GT-TA c.763_764delinsTA p.T255Y Missense 7/10 - 1
7-44187348-GT-TC c.763_764delinsGA p.T255D Missense 7/10 - 1
7-44187348-GT-TG c.763_764delinsCA p.T255H Missense 7/10 - 1
7-44187349-T-A c.763A>T p.T255S Missense 7/10 - 3
7-44187349-T-C c.763A>G p.T255A Missense 7/10 - 2
7-44187349-T-G c.763A>C p.T255P Missense 7/10 - 1
7-44187350-A-C c.762T>G p.N254K Missense 7/10 - 2
7-44187350-A-T c.762T>A p.N254K Missense 7/10 - 2
7-44187350-AT-CA c.761_762delinsTG p.N254M Missense 7/10 - 1
7-44187350-AT-CC c.761_762delinsGG p.N254R Missense 7/10 - 1
7-44187350-ATT-CCA c.760_762delinsTGG p.N254W Missense 7/10 - 1
7-44187350-ATT-CTC c.760_762delinsGAG p.N254E Missense 7/10 - 1
7-44187350-ATT-TTG c.760_762delinsCAA p.N254Q Missense 7/10 - 1
7-44187351-T-A c.761A>T p.N254I Missense 7/10 - 1
7-44187351-T-C c.761A>G p.N254S Missense 7/10 - 3
7-44187351-T-G c.761A>C p.N254T Missense 7/10 - 1
7-44187351-TT-AA c.760_761inv p.N254F Missense 7/10 - 1
7-44187351-TT-AC c.760_761delinsGT p.N254V Missense 7/10 - 1
7-44187351-TT-AG c.760_761delinsCT p.N254L Missense 7/10 - 1
7-44187351-TT-CA c.760_761delinsTG p.N254C Missense 7/10 - 1
7-44187351-TT-CC c.760_761delinsGG p.N254G Missense 7/10 - 1
7-44187351-TT-GC c.760_761delinsGC p.N254A Missense 7/10 - 1
7-44187351-TT-GG c.760_761delinsCC p.N254P Missense 7/10 - 1
7-44187352-T-A c.760A>T p.N254Y Missense 7/10 - 1
7-44187352-T-C c.760A>G p.N254D Missense 7/10 - 2
7-44187352-T-G c.760A>C p.N254H Missense 7/10 - 7
7-44187353-GAC-CAT c.757_759delinsATG p.V253M Missense 7/10 - 1
7-44187353-GAC-CCA c.757_759delinsTGG p.V253W Missense 7/10 - 1
7-44187353-GAC-CTT c.757_759delinsAAG p.V253K Missense 7/10 - 1
7-44187353-GA-CT c.758_759delinsAG p.V253E Missense 7/10 - 1
7-44187353-GAC-TTG c.757_759delinsCAA p.V253Q Missense 7/10 - 1
7-44187354-A-C c.758T>G p.V253G Missense 7/10 - 4
7-44187354-AC-CA c.757_758delinsTG p.V253C Missense 7/10 - 1
7-44187354-AC-CG c.757_758delinsCG p.V253R Missense 7/10 - 1
7-44187354-AC-CT c.757_758delinsAG p.V253S Missense 7/10 - 1
7-44187354-AC-GG c.757_758delinsCC p.V253P Missense 7/10 - 1
7-44187354-AC-GT c.757_758inv p.V253T Missense 7/10 - 1
7-44187354-AC-TA c.757_758delinsTA p.V253Y Missense 7/10 - 1
7-44187354-AC-TG c.757_758delinsCA p.V253H Missense 7/10 - 1
7-44187354-AC-TT c.757_758delinsAA p.V253N Missense 7/10 - 1
7-44187354-A-G c.758T>C p.V253A Missense 7/10 - 5
7-44187354-A-T c.758T>A p.V253D Missense 7/10 - 1
7-44187355-AC-A c.757del p.V253Sfs*41 Frameshift 7/10 - 2
7-44187355-C-A c.757G>T p.V253F Missense 7/10 - 6
7-44187355-C-G c.757G>C p.V253L Missense 7/10 - 3
7-44187355-C-T c.757G>A p.V253I Missense 7/10 - 8
7-44187356-G-C c.756C>G p.C252W Missense 7/10 - 3
7-44187356-GCA-CAT c.754_756delinsATG p.C252M Missense 7/10 - 1
7-44187356-GCA-CTC c.754_756delinsGAG p.C252E Missense 7/10 - 1
7-44187356-GCA-CTT c.754_756delinsAAG p.C252K Missense 7/10 - 1
7-44187356-GCA-TTG c.754_756delinsCAA p.C252Q Missense 7/10 - 1
7-44187357-C-A c.755G>T p.C252F Missense 7/10 - 2
7-44187357-CA-AC c.754_755delinsGT p.C252V Missense 7/10 - 1
7-44187357-CA-AG c.754_755delinsCT p.C252L Missense 7/10 - 1
7-44187357-CA-AT c.754_755delinsAT p.C252I Missense 7/10 - 1
7-44187357-CA-GC c.754_755delinsGC p.C252A Missense 7/10 - 1
7-44187357-CA-GG c.754_755delinsCC p.C252P Missense 7/10 - 1
7-44187357-CA-GT c.754_755delinsAC p.C252T Missense 7/10 - 1
7-44187357-CA-TC c.754_755delinsGA p.C252D Missense 7/10 - 1
7-44187357-CA-TG c.754_755inv p.C252H Missense 7/10 - 1
7-44187357-CA-TT c.754_755delinsAA p.C252N Missense 7/10 - 1
7-44187357-C-T c.755G>A p.C252Y Missense 7/10 - 6
7-44187357-C-G c.755G>C p.C252S Missense 7/10 - 1
7-44187358-A-C c.754T>G p.C252G Missense 7/10 - 3
7-44187358-A-G c.754T>C p.C252R Missense 7/10 - 4
7-44187358-A-T c.754T>A p.C252S Missense 7/10 - 1
7-44187359-C-A c.753G>T p.M251I Missense 7/10 - 3
7-44187359-CA-GC c.752_753delinsGC p.M251S Missense 7/10 - 1
7-44187359-CA-GT c.752_753delinsAC p.M251N Missense 7/10 - 1
7-44187359-CAT-AAA c.751_753delinsTTT p.M251F Missense 7/10 - 1
7-44187359-CAT-ACA c.751_753delinsTGT p.M251C Missense 7/10 - 2
7-44187359-CAT-ATA c.751_753delinsTAT p.M251Y Missense 7/10 - 1
7-44187359-CAT-ATG c.751_753inv p.M251H Missense 7/10 - 1
7-44187359-CAT-GTC c.751_753delinsGAC p.M251D Missense 7/10 - 1
7-44187359-C-G c.753G>C p.M251I Missense 7/10 - 3
7-44187359-C-T c.753G>A p.M251I Missense 7/10 - 3
7-44187360-A-C c.752T>G p.M251R Missense 7/10 - 4
7-44187360-A-G c.752T>C p.M251T Missense 7/10 - 6
7-44187360-A-T c.752T>A p.M251K Missense 7/10 - 2
7-44187360-AT-CA c.751_752delinsTG p.M251W Missense 7/10 - 1
7-44187360-AT-CC c.751_752delinsGG p.M251G Missense 7/10 - 1
7-44187360-AT-GC c.751_752delinsGC p.M251A Missense 7/10 - 1
7-44187360-AT-GG c.751_752delinsCC p.M251P Missense 7/10 - 1
7-44187360-AT-TC c.751_752delinsGA p.M251E Missense 7/10 - 1
7-44187360-AT-TG c.751_752delinsCA p.M251Q Missense 7/10 - 1
7-44187361-T-A c.751A>T p.M251L Missense 7/10 - 2
7-44187361-T-C c.751A>G p.M251V Missense 7/10 - 4
7-44187361-T-G c.751A>C p.M251L Missense 7/10 - 3
7-44187362-G-A c.750C>T p.R250= Synonymous 7/10 - 1
7-44187362-G-C c.750C>G p.R250= Synonymous 7/10 - 1
7-44187362-GCG-CAT c.748_750delinsATG p.R250M Missense 7/10 - 1
7-44187362-GCG-CCA c.748_750delinsTGG p.R250W Missense 7/10 - 1
7-44187362-GCG-CTC c.748_750delinsGAG p.R250E Missense 7/10 - 1
7-44187362-GCG-CTT c.748_750delinsAAG p.R250K Missense 7/10 - 1
7-44187362-GC-TT c.749_750delinsAA p.R250Q Missense 7/10 - 1
7-44187362-G-T c.750C>A p.R250= Synonymous 7/10 - 1
7-44187363-C-A c.749G>T p.R250L Missense 7/10 - 1
7-44187363-C-G c.749G>C p.R250P Missense 7/10 - 2
7-44187363-CG-AA c.748_749delinsTT p.R250F Missense 7/10 - 1
7-44187363-CG-AC c.748_749delinsGT p.R250V Missense 7/10 - 1
7-44187363-CG-AT c.748_749delinsAT p.R250I Missense 7/10 - 1
7-44187363-CG-GC c.748_749delinsGC p.R250A Missense 7/10 - 1
7-44187363-CG-GT c.748_749delinsAC p.R250T Missense 7/10 - 1
7-44187363-CG-TA c.748_749delinsTA p.R250Y Missense 7/10 - 1
7-44187363-CG-TC c.748_749delinsGA p.R250D Missense 7/10 - 1
7-44187363-CG-TT c.748_749delinsAA p.R250N Missense 7/10 - 1
7-44187363-C-T c.749G>A p.R250H Missense 7/10 - 6
7-44187364-G-A c.748C>T p.R250C Missense 7/10 - 9
7-44187364-G-C c.748C>G p.R250G Missense 7/10 - 1
7-44187364-G-T c.748C>A p.R250S Missense 7/10 - 1
7-44187365-GCC-CAT c.745_747delinsATG p.G249M Missense 7/10 - 1
7-44187365-GCC-CCA c.745_747delinsTGG p.G249W Missense 7/10 - 1
7-44187365-GCC-CTT c.745_747delinsAAG p.G249K Missense 7/10 - 1
7-44187365-GC-CT c.746_747delinsAG p.G249E Missense 7/10 - 1
7-44187365-GCC-TTG c.745_747delinsCAA p.G249Q Missense 7/10 - 1
7-44187366-C-A c.746G>T p.G249V Missense 7/10 - 1
7-44187366-CC-AA c.745_746delinsTT p.G249F Missense 7/10 - 1
7-44187366-CC-AG c.745_746delinsCT p.G249L Missense 7/10 - 1
7-44187366-CC-AT c.745_746delinsAT p.G249I Missense 7/10 - 1
7-44187366-CC-GG c.745_746inv p.G249P Missense 7/10 - 1
7-44187366-CC-GT c.745_746delinsAC p.G249T Missense 7/10 - 1
7-44187366-CC-TA c.745_746delinsTA p.G249Y Missense 7/10 - 1
7-44187366-CC-TG c.745_746delinsCA p.G249H Missense 7/10 - 1
7-44187366-CC-TT c.745_746delinsAA p.G249N Missense 7/10 - 1
7-44187366-C-G c.746G>C p.G249A Missense 7/10 - 1
7-44187366-C-T c.746G>A p.G249D Missense 7/10 - 2
7-44187367-C-A c.745G>T p.G249C Missense 7/10 - 2
7-44187367-C-G c.745G>C p.G249R Missense 7/10 - 1
7-44187367-C-T c.745G>A p.G249S Missense 7/10 - 2
7-44187368-C-A c.744G>T p.E248D Missense 7/10 - 1
7-44187368-C-G c.744G>C p.E248D Missense 7/10 - 1
7-44187368-CTC-AAA c.742_744delinsTTT p.E248F Missense 7/10 - 1
7-44187368-CTC-ACA c.742_744delinsTGT p.E248C Missense 7/10 - 1
7-44187368-CTC-ATA c.742_744delinsTAT p.E248Y Missense 7/10 - 1
7-44187368-CTC-ATG c.742_744delinsCAT p.E248H Missense 7/10 - 1
7-44187368-CTC-GAT c.742_744delinsATC p.E248I Missense 7/10 - 1
7-44187368-CTC-GTT c.742_744delinsAAC p.E248N Missense 7/10 - 1
7-44187369-CT-C c.743del p.E248Gfs*46 Frameshift 7/10 - 1
7-44187369-T-A c.743A>T p.E248V Missense 7/10 - 1
7-44187369-T-C c.743A>G p.E248G Missense 7/10 - 1
7-44187369-TC-AG c.742_743delinsCT p.E248L Missense 7/10 - 1
7-44187369-TC-AT c.742_743delinsAT p.E248M Missense 7/10 - 1
7-44187369-TC-CA c.742_743delinsTG p.E248W Missense 7/10 - 1
7-44187369-TC-CT c.742_743delinsAG p.E248R Missense 7/10 - 1
7-44187369-TC-GA c.742_743inv p.E248S Missense 7/10 - 1
7-44187369-TC-GG c.742_743delinsCC p.E248P Missense 7/10 - 1
7-44187369-TC-GT c.742_743delinsAC p.E248T Missense 7/10 - 1
7-44187369-T-G c.743A>C p.E248A Missense 7/10 - 1
7-44187370-C-G c.742G>C p.E248Q Missense 7/10 - 1
7-44187370-C-T c.742G>A p.E248K Missense 7/10 - 6
7-44187371-G-C c.741C>G p.D247E Missense 7/10 - 1
7-44187371-G-T c.741C>A p.D247E Missense 7/10 - 1
7-44187371-GTC-CAT c.739_741delinsATG p.D247M Missense 7/10 - 1
7-44187371-GTC-CCA c.739_741delinsTGG p.D247W Missense 7/10 - 1
7-44187371-GTC-CTT c.739_741delinsAAG p.D247K Missense 7/10 - 1
7-44187371-GTC-TTG c.739_741delinsCAA p.D247Q Missense 7/10 - 1
7-44187372-T-A c.740A>T p.D247V Missense 7/10 - 1
7-44187372-T-C c.740A>G p.D247G Missense 7/10 - 1
7-44187372-TC-AA c.739_740delinsTT p.D247F Missense 7/10 - 1
7-44187372-TC-AG c.739_740delinsCT p.D247L Missense 7/10 - 1
7-44187372-TC-AT c.739_740delinsAT p.D247I Missense 7/10 - 1
7-44187372-TC-CA c.739_740delinsTG p.D247C Missense 7/10 - 1
7-44187372-TC-CG c.739_740delinsCG p.D247R Missense 7/10 - 1
7-44187372-TC-CT c.739_740delinsAG p.D247S Missense 7/10 - 1
7-44187372-TC-GG c.739_740delinsCC p.D247P Missense 7/10 - 1
7-44187372-TC-GT c.739_740delinsAC p.D247T Missense 7/10 - 1
7-44187372-T-G c.740A>C p.D247A Missense 7/10 - 2
7-44187373-C-A c.739G>T p.D247Y Missense 7/10 - 1
7-44187373-C-G c.739G>C p.D247H Missense 7/10 - 1
7-44187373-C-T c.739G>A p.D247N Missense 7/10 - 1
7-44187374-C-A c.738G>T p.G246= Synonymous 7/10 - 1
7-44187374-CCC-AAA c.736_738delinsTTT p.G246F Missense 7/10 - 1
7-44187374-CCC-ACA c.736_738delinsTGT p.G246C Missense 7/10 - 1
7-44187374-CCC-ATA c.736_738delinsTAT p.G246Y Missense 7/10 - 1
7-44187374-CCC-ATG c.736_738delinsCAT p.G246H Missense 7/10 - 1
7-44187374-CCC-GAT c.736_738delinsATC p.G246I Missense 7/10 - 1
7-44187374-CCC-GCT c.736_738delinsAGC p.G246S Missense 7/10 - 1
7-44187374-CCC-GTT c.736_738delinsAAC p.G246N Missense 7/10 - 1
7-44187374-CC-GT c.737_738delinsAC p.G246D Missense 7/10 - 1
7-44187374-C-G c.738G>C p.G246= Synonymous 7/10 - 1
7-44187374-C-T c.738G>A p.G246= Synonymous 7/10 - 3
7-44187375-C-A c.737G>T p.G246V Missense 7/10 - 1
7-44187375-CC-AG c.736_737delinsCT p.G246L Missense 7/10 - 1
7-44187375-CC-AT c.736_737delinsAT p.G246M Missense 7/10 - 1
7-44187375-CC-GG c.736_737inv p.G246P Missense 7/10 - 1
7-44187375-CC-GT c.736_737delinsAC p.G246T Missense 7/10 - 1
7-44187375-CC-TG c.736_737delinsCA p.G246Q Missense 7/10 - 1
7-44187375-CC-TT c.736_737delinsAA p.G246K Missense 7/10 - 1
7-44187375-C-G c.737G>C p.G246A Missense 7/10 - 5
7-44187375-C-T c.737G>A p.G246E Missense 7/10 - 1
7-44187376-C-A c.736G>T p.G246W Missense 7/10 - 1
7-44187376-C-G c.736G>C p.G246R Missense 7/10 - 2
7-44187376-C-T c.736G>A p.G246R Missense 7/10 - 5
7-44187372-TC-T c.739del p.D247Tfs*47 Frameshift 7/10 - 2
7-44187377-C-A c.735G>T p.E245D Missense 7/10 - 1
7-44187377-C-G c.735G>C p.E245D Missense 7/10 - 1
7-44187377-CTC-AAA c.733_735delinsTTT p.E245F Missense 7/10 - 1
7-44187377-CTC-ACA c.733_735delinsTGT p.E245C Missense 7/10 - 1
7-44187377-CTC-ATA c.733_735delinsTAT p.E245Y Missense 7/10 - 1
7-44187377-CTC-ATG c.733_735delinsCAT p.E245H Missense 7/10 - 1
7-44187377-CTC-GAT c.733_735delinsATC p.E245I Missense 7/10 - 1
7-44187377-CTC-GTT c.733_735delinsAAC p.E245N Missense 7/10 - 1
7-44187378-T-A c.734A>T p.E245V Missense 7/10 - 1
7-44187378-T-C c.734A>G p.E245G Missense 7/10 - 1
7-44187378-TC-AG c.733_734delinsCT p.E245L Missense 7/10 - 1
7-44187378-TC-AT c.733_734delinsAT p.E245M Missense 7/10 - 1
7-44187378-TC-CA c.733_734delinsTG p.E245W Missense 7/10 - 1
7-44187378-TC-CT c.733_734delinsAG p.E245R Missense 7/10 - 1
7-44187378-TC-GA c.733_734inv p.E245S Missense 7/10 - 1
7-44187378-TC-GG c.733_734delinsCC p.E245P Missense 7/10 - 1
7-44187378-TC-GT c.733_734delinsAC p.E245T Missense 7/10 - 1
7-44187378-T-G c.734A>C p.E245A Missense 7/10 - 2
7-44187379-C-G c.733G>C p.E245Q Missense 7/10 - 1
7-44187379-C-T c.733G>A p.E245K Missense 7/10 - 1
7-44187378-TC-T c.733del p.E245Rfs*49 Frameshift 7/10 - 1
7-44187380-CAC-AAA c.730_732delinsTTT p.V244F Missense 7/10 - 1
7-44187380-CAC-ACA c.730_732delinsTGT p.V244C Missense 7/10 - 1
7-44187380-CAC-ATA c.730_732delinsTAT p.V244Y Missense 7/10 - 1
7-44187380-CAC-ATG c.730_732delinsCAT p.V244H Missense 7/10 - 1
7-44187380-CAC-GAT c.730_732delinsATC p.V244I Missense 7/10 - 1
7-44187380-CAC-GTT c.730_732delinsAAC p.V244N Missense 7/10 - 1
7-44187380-CA-GT c.731_732delinsAC p.V244D Missense 7/10 - 1
7-44187381-A-C c.731T>G p.V244G Missense 7/10 - 3
7-44187381-AC-CA c.730_731delinsTG p.V244W Missense 7/10 - 1
7-44187381-AC-CT c.730_731delinsAG p.V244R Missense 7/10 - 1
7-44187381-AC-GA c.730_731delinsTC p.V244S Missense 7/10 - 1
7-44187381-AC-GG c.730_731delinsCC p.V244P Missense 7/10 - 1
7-44187381-AC-GT c.730_731inv p.V244T Missense 7/10 - 1
7-44187381-AC-TG c.730_731delinsCA p.V244Q Missense 7/10 - 1
7-44187381-AC-TT c.730_731delinsAA p.V244K Missense 7/10 - 1
7-44187381-A-G c.731T>C p.V244A Missense 7/10 - 1
7-44187381-A-T c.731T>A p.V244E Missense 7/10 - 2
7-44187381-CA-C c.731del p.V244Gfs*50 Frameshift 7/10 - 1
7-44187382-C-A c.730G>T p.V244L Missense 7/10 - 2
7-44187382-C-G c.730G>C p.V244L Missense 7/10 - 2
7-44187382-C-T c.730G>A p.V244M Missense 7/10 - 2
7-44187381-AC-A c.730del p.V244Wfs*50 Frameshift 7/10 - 1
7-44187383-C-A c.729G>T p.L243= Synonymous 7/10 - 2
7-44187383-CA-AT c.728_729delinsAT p.L243H Missense 7/10 - 1
7-44187383-CAG-AAA c.727_729delinsTTT p.L243F Missense 7/10 - 1
7-44187383-CAG-ACA c.727_729delinsTGT p.L243C Missense 7/10 - 1
7-44187383-CAG-ATA c.727_729delinsTAT p.L243Y Missense 7/10 - 1
7-44187383-CAG-GAT c.727_729delinsATC p.L243I Missense 7/10 - 1
7-44187383-CAG-GTC c.727_729delinsGAC p.L243D Missense 7/10 - 1
7-44187383-CAG-GTT c.727_729delinsAAC p.L243N Missense 7/10 - 1
7-44187383-C-G c.729G>C p.L243= Synonymous 7/10 - 2
7-44187383-C-T c.729G>A p.L243= Synonymous 7/10 - 2
7-44187385-G-A c.727C>T p.L243= Synonymous 7/10 - 2
7-44187384-A-C c.728T>G p.L243R Missense 7/10 - 1
7-44187384-A-G c.728T>C p.L243P Missense 7/10 - 4
7-44187384-AG-CA c.727_728delinsTG p.L243W Missense 7/10 - 1
7-44187384-AG-CC c.727_728delinsGG p.L243G Missense 7/10 - 1
7-44187384-AG-GA c.727_728delinsTC p.L243S Missense 7/10 - 1
7-44187384-AG-GC c.727_728delinsGC p.L243A Missense 7/10 - 1
7-44187384-AG-GT c.727_728delinsAC p.L243T Missense 7/10 - 1
7-44187384-AG-TC c.727_728delinsGA p.L243E Missense 7/10 - 1
7-44187384-AG-TT c.727_728delinsAA p.L243K Missense 7/10 - 1
7-44187384-A-T c.728T>A p.L243Q Missense 7/10 - 1
7-44187382-CCAGCTCCACATTCTG-C c.715_729del p.Q239_L243del InFrameDeletion 7/10 - 1
7-44187385-G-C c.727C>G p.L243V Missense 7/10 - 1
7-44187385-G-T c.727C>A p.L243M Missense 7/10 - 1
7-44187386-C-A c.726G>T p.E242D Missense 7/10 - 1
7-44187386-C-G c.726G>C p.E242D Missense 7/10 - 1
7-44187386-CTC-AAA c.724_726delinsTTT p.E242F Missense 7/10 - 1
7-44187386-CTC-ACA c.724_726delinsTGT p.E242C Missense 7/10 - 1
7-44187386-CTC-ATA c.724_726delinsTAT p.E242Y Missense 7/10 - 1
7-44187386-CTC-ATG c.724_726delinsCAT p.E242H Missense 7/10 - 1
7-44187386-CTC-GAT c.724_726delinsATC p.E242I Missense 7/10 - 1
7-44187386-CTC-GTT c.724_726delinsAAC p.E242N Missense 7/10 - 1
7-44187387-T-A c.725A>T p.E242V Missense 7/10 - 1
7-44187387-T-C c.725A>G p.E242G Missense 7/10 - 1
7-44187387-TC-AG c.724_725delinsCT p.E242L Missense 7/10 - 1
7-44187387-TC-AT c.724_725delinsAT p.E242M Missense 7/10 - 1
7-44187387-TC-CA c.724_725delinsTG p.E242W Missense 7/10 - 1
7-44187387-TC-CT c.724_725delinsAG p.E242R Missense 7/10 - 1
7-44187387-TC-GA c.724_725inv p.E242S Missense 7/10 - 1
7-44187387-TC-GG c.724_725delinsCC p.E242P Missense 7/10 - 1
7-44187387-TC-GT c.724_725delinsAC p.E242T Missense 7/10 - 1
7-44187387-T-G c.725A>C p.E242A Missense 7/10 - 1
7-44187388-C-A c.724G>T p.E242* Nonsense 7/10 - 1
7-44187388-C-G c.724G>C p.E242Q Missense 7/10 - 1
7-44187388-C-T c.724G>A p.E242K Missense 7/10 - 1
7-44187389-CAC-AAA c.721_723delinsTTT p.V241F Missense 7/10 - 1
7-44187389-CAC-ACA c.721_723delinsTGT p.V241C Missense 7/10 - 1
7-44187389-CAC-ATA c.721_723delinsTAT p.V241Y Missense 7/10 - 1
7-44187389-CAC-ATG c.721_723delinsCAT p.V241H Missense 7/10 - 1
7-44187389-CAC-GAT c.721_723delinsATC p.V241I Missense 7/10 - 1
7-44187389-CAC-GTT c.721_723delinsAAC p.V241N Missense 7/10 - 1
7-44187389-CA-GT c.722_723delinsAC p.V241D Missense 7/10 - 1
7-44187385-GCTCCACATTCTGCAT-G c.712_726del p.M238_E242del InFrameDeletion 7/10 - 1
7-44187390-A-C c.722T>G p.V241G Missense 7/10 - 2
7-44187390-AC-CA c.721_722delinsTG p.V241W Missense 7/10 - 1
7-44187390-AC-CT c.721_722delinsAG p.V241R Missense 7/10 - 1
7-44187390-AC-GA c.721_722delinsTC p.V241S Missense 7/10 - 1
7-44187390-AC-GG c.721_722delinsCC p.V241P Missense 7/10 - 1
7-44187390-AC-GT c.721_722inv p.V241T Missense 7/10 - 1
7-44187390-AC-TG c.721_722delinsCA p.V241Q Missense 7/10 - 1
7-44187390-AC-TT c.721_722delinsAA p.V241K Missense 7/10 - 1
7-44187390-A-G c.722T>C p.V241A Missense 7/10 - 2
7-44187390-A-T c.722T>A p.V241E Missense 7/10 - 1
7-44187391-C-A c.721G>T p.V241L Missense 7/10 - 2
7-44187391-C-G c.721G>C p.V241L Missense 7/10 - 1
7-44187391-C-T c.721G>A p.V241M Missense 7/10 - 2
7-44187392-A-C c.720T>G p.N240K Missense 7/10 - 2
7-44187392-A-T c.720T>A p.N240K Missense 7/10 - 2
7-44187392-AT-CA c.719_720delinsTG p.N240M Missense 7/10 - 1
7-44187392-AT-CC c.719_720delinsGG p.N240R Missense 7/10 - 1
7-44187392-ATT-CCA c.718_720delinsTGG p.N240W Missense 7/10 - 1
7-44187392-ATT-CTC c.718_720delinsGAG p.N240E Missense 7/10 - 1
7-44187392-ATT-TTG c.718_720delinsCAA p.N240Q Missense 7/10 - 1
7-44187393-T-A c.719A>T p.N240I Missense 7/10 - 1
7-44187393-T-C c.719A>G p.N240S Missense 7/10 - 2
7-44187393-T-G c.719A>C p.N240T Missense 7/10 - 2
7-44187393-TT-AA c.718_719inv p.N240F Missense 7/10 - 1
7-44187393-TT-AC c.718_719delinsGT p.N240V Missense 7/10 - 1
7-44187393-TT-AG c.718_719delinsCT p.N240L Missense 7/10 - 1
7-44187393-TT-CA c.718_719delinsTG p.N240C Missense 7/10 - 1
7-44187393-TT-CC c.718_719delinsGG p.N240G Missense 7/10 - 1
7-44187393-TT-GC c.718_719delinsGC p.N240A Missense 7/10 - 1
7-44187393-TT-GG c.718_719delinsCC p.N240P Missense 7/10 - 1
7-44187392-AT-A c.719del p.N240Mfs*54 Frameshift 7/10 - 1
7-44187394-T-A c.718A>T p.N240Y Missense 7/10 - 1
7-44187394-T-C c.718A>G p.N240D Missense 7/10 - 5
7-44187394-T-G c.718A>C p.N240H Missense 7/10 - 1
7-44187395-C-A c.717G>T p.Q239H Missense 7/10 - 1
7-44187395-C-G c.717G>C p.Q239H Missense 7/10 - 1
7-44187395-C-T c.717G>A p.Q239= Synonymous 7/10 - 1
7-44187395-CTG-AAA c.715_717delinsTTT p.Q239F Missense 7/10 - 1
7-44187395-CTG-ACA c.715_717delinsTGT p.Q239C Missense 7/10 - 1
7-44187395-CTG-ATA c.715_717delinsTAT p.Q239Y Missense 7/10 - 1
7-44187395-CTG-GAT c.715_717delinsATC p.Q239I Missense 7/10 - 1
7-44187395-CTG-GTC c.715_717delinsGAC p.Q239D Missense 7/10 - 1
7-44187395-CTG-GTT c.715_717delinsAAC p.Q239N Missense 7/10 - 1
7-44187396-T-A c.716A>T p.Q239L Missense 7/10 - 1
7-44187396-T-C c.716A>G p.Q239R Missense 7/10 - 8
7-44187396-T-G c.716A>C p.Q239P Missense 7/10 - 1
7-44187396-TG-AC c.715_716delinsGT p.Q239V Missense 7/10 - 1
7-44187396-TG-AT c.715_716delinsAT p.Q239M Missense 7/10 - 1
7-44187396-TG-CA c.715_716inv p.Q239W Missense 7/10 - 1
7-44187396-TG-CC c.715_716delinsGG p.Q239G Missense 7/10 - 1
7-44187396-TG-GA c.715_716delinsTC p.Q239S Missense 7/10 - 1
7-44187396-TG-GC c.715_716delinsGC p.Q239A Missense 7/10 - 1
7-44187396-TG-GT c.715_716delinsAC p.Q239T Missense 7/10 - 1
7-44187397-G-A c.715C>T p.Q239* Nonsense 7/10 - 1
7-44187397-G-C c.715C>G p.Q239E Missense 7/10 - 2
7-44187397-G-T c.715C>A p.Q239K Missense 7/10 - 1
7-44187398-C-A c.714G>T p.M238I Missense 7/10 - 1
7-44187398-CA-GC c.713_714delinsGC p.M238S Missense 7/10 - 1
7-44187398-CA-GT c.713_714delinsAC p.M238N Missense 7/10 - 1
7-44187398-CAT-AAA c.712_714delinsTTT p.M238F Missense 7/10 - 1
7-44187398-CAT-ACA c.712_714delinsTGT p.M238C Missense 7/10 - 1
7-44187398-CAT-ATA c.712_714delinsTAT p.M238Y Missense 7/10 - 1
7-44187398-CAT-ATG c.712_714inv p.M238H Missense 7/10 - 1
7-44187398-CAT-GTC c.712_714delinsGAC p.M238D Missense 7/10 - 1
7-44187398-C-G c.714G>C p.M238I Missense 7/10 - 1
7-44187398-C-T c.714G>A p.M238I Missense 7/10 - 1
7-44187399-A-C c.713T>G p.M238R Missense 7/10 - 1
7-44187399-A-G c.713T>C p.M238T Missense 7/10 - 2
7-44187399-A-T c.713T>A p.M238K Missense 7/10 - 1
7-44187399-AT-CA c.712_713delinsTG p.M238W Missense 7/10 - 1
7-44187399-AT-CC c.712_713delinsGG p.M238G Missense 7/10 - 1
7-44187399-AT-GC c.712_713delinsGC p.M238A Missense 7/10 - 1
7-44187399-AT-GG c.712_713delinsCC p.M238P Missense 7/10 - 1
7-44187399-AT-TC c.712_713delinsGA p.M238E Missense 7/10 - 1
7-44187399-AT-TG c.712_713delinsCA p.M238Q Missense 7/10 - 1
7-44187400-T-A c.712A>T p.M238L Missense 7/10 - 1
7-44187400-T-C c.712A>G p.M238V Missense 7/10 - 1
7-44187400-T-G c.712A>C p.M238L Missense 7/10 - 1
7-44187401-C-A c.711G>T p.E237D Missense 7/10 - 1
7-44187401-C-G c.711G>C p.E237D Missense 7/10 - 1
7-44187401-C-T c.711G>A p.E237= Synonymous 7/10 - 2
7-44187401-CTC-AAA c.709_711delinsTTT p.E237F Missense 7/10 - 1
7-44187401-CTC-ACA c.709_711delinsTGT p.E237C Missense 7/10 - 1
7-44187401-CTC-ATA c.709_711delinsTAT p.E237Y Missense 7/10 - 1
7-44187401-CTC-ATG c.709_711delinsCAT p.E237H Missense 7/10 - 1
7-44187401-CTC-GAT c.709_711delinsATC p.E237I Missense 7/10 - 1
7-44187401-CTC-GTT c.709_711delinsAAC p.E237N Missense 7/10 - 1
7-44187402-T-A c.710A>T p.E237V Missense 7/10 - 1
7-44187402-T-C c.710A>G p.E237G Missense 7/10 - 1
7-44187402-TC-AG c.709_710delinsCT p.E237L Missense 7/10 - 1
7-44187402-TC-AT c.709_710delinsAT p.E237M Missense 7/10 - 1
7-44187402-TC-CA c.709_710delinsTG p.E237W Missense 7/10 - 1
7-44187402-TC-CT c.709_710delinsAG p.E237R Missense 7/10 - 1
7-44187402-TC-GA c.709_710inv p.E237S Missense 7/10 - 1
7-44187402-TC-GG c.709_710delinsCC p.E237P Missense 7/10 - 1
7-44187402-TC-GT c.709_710delinsAC p.E237T Missense 7/10 - 1
7-44187402-T-G c.710A>C p.E237A Missense 7/10 - 1
7-44187403-C-G c.709G>C p.E237Q Missense 7/10 - 1
7-44187403-C-T c.709G>A p.E237K Missense 7/10 - 8
7-44187404-C-A c.708G>T p.E236D Missense 7/10 - 1
7-44187404-C-G c.708G>C p.E236D Missense 7/10 - 1
7-44187404-CTC-AAA c.706_708delinsTTT p.E236F Missense 7/10 - 1
7-44187404-CTC-ACA c.706_708delinsTGT p.E236C Missense 7/10 - 1
7-44187404-CTC-ATA c.706_708delinsTAT p.E236Y Missense 7/10 - 1
7-44187404-CTC-ATG c.706_708delinsCAT p.E236H Missense 7/10 - 1
7-44187404-CTC-GAT c.706_708delinsATC p.E236I Missense 7/10 - 1
7-44187404-CTC-GTT c.706_708delinsAAC p.E236N Missense 7/10 - 1
7-44187400-TCTC-T c.709_711del p.E237del InFrameDeletion 7/10 - 1
7-44187405-T-A c.707A>T p.E236V Missense 7/10 - 1
7-44187405-T-C c.707A>G p.E236G Missense 7/10 - 1
7-44187405-TC-AG c.706_707delinsCT p.E236L Missense 7/10 - 1
7-44187405-TC-AT c.706_707delinsAT p.E236M Missense 7/10 - 1
7-44187405-TC-CA c.706_707delinsTG p.E236W Missense 7/10 - 1
7-44187405-TC-CT c.706_707delinsAG p.E236R Missense 7/10 - 1
7-44187405-TC-GA c.706_707inv p.E236S Missense 7/10 - 1
7-44187405-TC-GG c.706_707delinsCC p.E236P Missense 7/10 - 1
7-44187405-TC-GT c.706_707delinsAC p.E236T Missense 7/10 - 1
7-44187405-T-G c.707A>C p.E236A Missense 7/10 - 2
7-44187406-C-G c.706G>C p.E236Q Missense 7/10 - 1
7-44187406-C-T c.706G>A p.E236K Missense 7/10 - 10
7-44187407-C-A c.705G>T p.M235I Missense 7/10 - 2
7-44187407-CA-GC c.704_705delinsGC p.M235S Missense 7/10 - 1
7-44187407-CA-GT c.704_705delinsAC p.M235N Missense 7/10 - 1
7-44187407-CAT-AAA c.703_705delinsTTT p.M235F Missense 7/10 - 1
7-44187407-CAT-ACA c.703_705delinsTGT p.M235C Missense 7/10 - 1
7-44187407-CAT-ATA c.703_705delinsTAT p.M235Y Missense 7/10 - 1
7-44187407-CAT-ATG c.703_705inv p.M235H Missense 7/10 - 1
7-44187407-CAT-GTC c.703_705delinsGAC p.M235D Missense 7/10 - 1
7-44187407-C-G c.705G>C p.M235I Missense 7/10 - 2
7-44187407-C-T c.705G>A p.M235I Missense 7/10 - 3
7-44187408-A-C c.704T>G p.M235R Missense 7/10 - 2
7-44187408-A-G c.704T>C p.M235T Missense 7/10 - 15
7-44187408-A-T c.704T>A p.M235K Missense 7/10 - 2
7-44187408-AT-CA c.703_704delinsTG p.M235W Missense 7/10 - 1
7-44187408-AT-CC c.703_704delinsGG p.M235G Missense 7/10 - 1
7-44187408-AT-GC c.703_704delinsGC p.M235A Missense 7/10 - 1
7-44187408-AT-GG c.703_704delinsCC p.M235P Missense 7/10 - 1
7-44187408-AT-TC c.703_704delinsGA p.M235E Missense 7/10 - 1
7-44187408-AT-TG c.703_704delinsCA p.M235Q Missense 7/10 - 1
7-44187409-T-A c.703A>T p.M235L Missense 7/10 - 3
7-44187409-T-C c.703A>G p.M235V Missense 7/10 - 6
7-44187409-T-G c.703A>C p.M235L Missense 7/10 - 2
7-44187410-G-C c.702C>G p.Y234* Nonsense 7/10 - 1
7-44187410-G-T c.702C>A p.Y234* Nonsense 7/10 - 1
7-44187410-GTA-CAT c.700_702delinsATG p.Y234M Missense 7/10 - 1
7-44187410-GTA-CTC c.700_702delinsGAG p.Y234E Missense 7/10 - 1
7-44187410-GTA-CTT c.700_702delinsAAG p.Y234K Missense 7/10 - 1
7-44187410-GTA-TTG c.700_702delinsCAA p.Y234Q Missense 7/10 - 1
7-44187410-GT-CC c.701_702delinsGG p.Y234W Missense 7/10 - 1
7-44187411-T-A c.701A>T p.Y234F Missense 7/10 - 1
7-44187411-TA-AC c.700_701delinsGT p.Y234V Missense 7/10 - 1
7-44187411-TA-AG c.700_701delinsCT p.Y234L Missense 7/10 - 1
7-44187411-TA-AT c.700_701delinsAT p.Y234I Missense 7/10 - 1
7-44187411-TA-CC c.700_701delinsGG p.Y234G Missense 7/10 - 1
7-44187411-TA-CG c.700_701delinsCG p.Y234R Missense 7/10 - 1
7-44187411-TA-GC c.700_701delinsGC p.Y234A Missense 7/10 - 1
7-44187411-TA-GG c.700_701delinsCC p.Y234P Missense 7/10 - 1
7-44187411-TA-GT c.700_701delinsAC p.Y234T Missense 7/10 - 1
7-44187411-T-C c.701A>G p.Y234C Missense 7/10 - 1
7-44187411-T-G c.701A>C p.Y234S Missense 7/10 - 2
7-44187412-A-C c.700T>G p.Y234D Missense 7/10 - 1
7-44187412-A-G c.700T>C p.Y234H Missense 7/10 - 4
7-44187412-A-T c.700T>A p.Y234N Missense 7/10 - 1
7-44187413-G-C c.699C>G p.C233W Missense 7/10 - 1
7-44187413-GCA-CAT c.697_699delinsATG p.C233M Missense 7/10 - 1
7-44187413-GCA-CTC c.697_699delinsGAG p.C233E Missense 7/10 - 1
7-44187413-GCA-CTT c.697_699delinsAAG p.C233K Missense 7/10 - 1
7-44187413-GCA-TTG c.697_699delinsCAA p.C233Q Missense 7/10 - 1
7-44187414-C-A c.698G>T p.C233F Missense 7/10 - 1
7-44187414-CA-AC c.697_698delinsGT p.C233V Missense 7/10 - 1
7-44187414-CA-AG c.697_698delinsCT p.C233L Missense 7/10 - 1
7-44187414-CA-AT c.697_698delinsAT p.C233I Missense 7/10 - 1
7-44187414-CA-GC c.697_698delinsGC p.C233A Missense 7/10 - 1
7-44187414-CA-GG c.697_698delinsCC p.C233P Missense 7/10 - 1
7-44187414-CA-GT c.697_698delinsAC p.C233T Missense 7/10 - 1
7-44187414-CA-TC c.697_698delinsGA p.C233D Missense 7/10 - 1
7-44187414-CA-TG c.697_698inv p.C233H Missense 7/10 - 1
7-44187414-CA-TT c.697_698delinsAA p.C233N Missense 7/10 - 1
7-44187414-C-T c.698G>A p.C233Y Missense 7/10 - 4
7-44187414-C-G c.698G>C p.C233S Missense 7/10 - 2
7-44187415-A-C c.697T>G p.C233G Missense 7/10 - 1
7-44187415-A-G c.697T>C p.C233R Missense 7/10 - 4
7-44187415-A-T c.697T>A p.C233S Missense 7/10 - 2
7-44187416-GGC-CAT c.694_696delinsATG p.A232M Missense 7/10 - 1
7-44187416-GGC-CCA c.694_696delinsTGG p.A232W Missense 7/10 - 1
7-44187416-GGC-CTT c.694_696delinsAAG p.A232K Missense 7/10 - 1
7-44187416-GG-CT c.695_696delinsAG p.A232E Missense 7/10 - 1
7-44187416-GGC-TTG c.694_696delinsCAA p.A232Q Missense 7/10 - 1
7-44187417-G-A c.695C>T p.A232V Missense 7/10 - 1
7-44187417-G-C c.695C>G p.A232G Missense 7/10 - 1
7-44187417-GC-AA c.694_695delinsTT p.A232F Missense 7/10 - 1
7-44187417-GC-AG c.694_695delinsCT p.A232L Missense 7/10 - 1
7-44187417-GC-AT c.694_695delinsAT p.A232I Missense 7/10 - 1
7-44187417-GC-CA c.694_695delinsTG p.A232C Missense 7/10 - 1
7-44187417-GC-CG c.694_695delinsCG p.A232R Missense 7/10 - 1
7-44187417-GC-TA c.694_695delinsTA p.A232Y Missense 7/10 - 1
7-44187417-GC-TG c.694_695delinsCA p.A232H Missense 7/10 - 1
7-44187417-GC-TT c.694_695delinsAA p.A232N Missense 7/10 - 1
7-44187417-G-T c.695C>A p.A232D Missense 7/10 - 3
7-44187418-C-A c.694G>T p.A232S Missense 7/10 - 1
7-44187418-C-G c.694G>C p.A232P Missense 7/10 - 1
7-44187418-C-T c.694G>A p.A232T Missense 7/10 - 4
7-44187419-A-C c.693T>G p.N231K Missense 7/10 - 1
7-44187419-A-T c.693T>A p.N231K Missense 7/10 - 1
7-44187419-AT-CA c.692_693delinsTG p.N231M Missense 7/10 - 1
7-44187419-AT-CC c.692_693delinsGG p.N231R Missense 7/10 - 1
7-44187419-ATT-CCA c.691_693delinsTGG p.N231W Missense 7/10 - 1
7-44187419-ATT-CTC c.691_693delinsGAG p.N231E Missense 7/10 - 1
7-44187419-ATT-TTG c.691_693delinsCAA p.N231Q Missense 7/10 - 1
7-44187420-T-A c.692A>T p.N231I Missense 7/10 - 1
7-44187420-T-C c.692A>G p.N231S Missense 7/10 - 2
7-44187420-T-G c.692A>C p.N231T Missense 7/10 - 1
7-44187420-TT-AA c.691_692inv p.N231F Missense 7/10 - 1
7-44187420-TT-AC c.691_692delinsGT p.N231V Missense 7/10 - 1
7-44187420-TT-AG c.691_692delinsCT p.N231L Missense 7/10 - 1
7-44187420-TT-CA c.691_692delinsTG p.N231C Missense 7/10 - 1
7-44187420-TT-CC c.691_692delinsGG p.N231G Missense 7/10 - 1
7-44187420-TT-GC c.691_692delinsGC p.N231A Missense 7/10 - 1
7-44187420-TT-GG c.691_692delinsCC p.N231P Missense 7/10 - 1
7-44187421-T-A c.691A>T p.N231Y Missense 7/10 - 1
7-44187421-T-C c.691A>G p.N231D Missense 7/10 - 1
7-44187421-T-G c.691A>C p.N231H Missense 7/10 - 3
7-44187422-G-C c.690C>G p.C230W Missense 7/10 - 1
7-44187422-GCA-CAT c.688_690delinsATG p.C230M Missense 7/10 - 1
7-44187422-GCA-CTC c.688_690delinsGAG p.C230E Missense 7/10 - 1
7-44187422-GCA-CTT c.688_690delinsAAG p.C230K Missense 7/10 - 1
7-44187422-GCA-TTG c.688_690delinsCAA p.C230Q Missense 7/10 - 1
7-44187423-C-A c.689G>T p.C230F Missense 7/10 - 1
7-44187423-CA-AC c.688_689delinsGT p.C230V Missense 7/10 - 1
7-44187423-CA-AG c.688_689delinsCT p.C230L Missense 7/10 - 1
7-44187423-CA-AT c.688_689delinsAT p.C230I Missense 7/10 - 1
7-44187423-CA-GC c.688_689delinsGC p.C230A Missense 7/10 - 1
7-44187423-CA-GG c.688_689delinsCC p.C230P Missense 7/10 - 1
7-44187423-CA-GT c.688_689delinsAC p.C230T Missense 7/10 - 1
7-44187423-CA-TC c.688_689delinsGA p.C230D Missense 7/10 - 1
7-44187423-CA-TG c.688_689inv p.C230H Missense 7/10 - 1
7-44187423-CA-TT c.688_689delinsAA p.C230N Missense 7/10 - 1
7-44187423-C-T c.689G>A p.C230Y Missense 7/10 - 4
7-44187423-C-G c.689G>C p.C230S Missense 7/10 - 2
7-44187424-A-C c.688T>G p.C230G Missense 7/10 - 2
7-44187424-A-G c.688T>C p.C230R Missense 7/10 - 1
7-44187424-A-T c.688T>A p.C230S Missense 7/10 - 2
7-44187425-GCC-CAT c.685_687delinsATG p.G229M Missense 7/10 - 1
7-44187425-GCC-CCA c.685_687delinsTGG p.G229W Missense 7/10 - 1
7-44187425-GCC-CTT c.685_687delinsAAG p.G229K Missense 7/10 - 1
7-44187425-GC-CT c.686_687delinsAG p.G229E Missense 7/10 - 1
7-44187425-GCC-TTG c.685_687delinsCAA p.G229Q Missense 7/10 - 1
7-44187426-C-A c.686G>T p.G229V Missense 7/10 - 4
7-44187426-CC-AA c.685_686delinsTT p.G229F Missense 7/10 - 1
7-44187426-CC-AG c.685_686delinsCT p.G229L Missense 7/10 - 1
7-44187426-CC-AT c.685_686delinsAT p.G229I Missense 7/10 - 1
7-44187426-CC-GG c.685_686inv p.G229P Missense 7/10 - 1
7-44187426-CC-GT c.685_686delinsAC p.G229T Missense 7/10 - 1
7-44187426-CC-TA c.685_686delinsTA p.G229Y Missense 7/10 - 1
7-44187426-CC-TG c.685_686delinsCA p.G229H Missense 7/10 - 1
7-44187426-CC-TT c.685_686delinsAA p.G229N Missense 7/10 - 1
7-44187426-C-G c.686G>C p.G229A Missense 7/10 - 1
7-44187426-C-T c.686G>A p.G229D Missense 7/10 - 6
7-44187427-C-A c.685G>T p.G229C Missense 7/10 - 1
7-44187427-C-G c.685G>C p.G229R Missense 7/10 - 1
7-44187427-C-T c.685G>A p.G229S Missense 7/10 - 2
7-44187428-CG-GA c.683_684delinsTC p.T228I Missense 7/10 - 1
7-44187428-CG-GT c.683_684delinsAC p.T228N Missense 7/10 - 1
7-44187428-CGT-AAA c.682_684delinsTTT p.T228F Missense 7/10 - 1
7-44187428-CGT-ACA c.682_684delinsTGT p.T228C Missense 7/10 - 1
7-44187428-CGT-ATA c.682_684delinsTAT p.T228Y Missense 7/10 - 1
7-44187428-CGT-ATG c.682_684delinsCAT p.T228H Missense 7/10 - 1
7-44187428-CGT-GTC c.682_684delinsGAC p.T228D Missense 7/10 - 1
7-44187429-G-A c.683C>T p.T228M Missense 7/10 - 28
7-44187429-G-C c.683C>G p.T228R Missense 7/10 - 3
7-44187429-G-T c.683C>A p.T228K Missense 7/10 - 3
7-44187429-GT-AC c.682_683inv p.T228V Missense 7/10 - 1
7-44187429-GT-AG c.682_683delinsCT p.T228L Missense 7/10 - 1
7-44187429-GT-CA c.682_683delinsTG p.T228W Missense 7/10 - 1
7-44187429-GT-CC c.682_683delinsGG p.T228G Missense 7/10 - 1
7-44187429-GT-TC c.682_683delinsGA p.T228E Missense 7/10 - 1
7-44187429-GT-TG c.682_683delinsCA p.T228Q Missense 7/10 - 1
7-44187430-T-A c.682A>T p.T228S Missense 7/10 - 1
7-44187430-T-C c.682A>G p.T228A Missense 7/10 - 8
7-44187430-T-G c.682A>C p.T228P Missense 7/10 - 1
7-44187431-GC-CT c.680_681delinsAG p.G227E Missense 7/10 - 1
7-44187432-C-A c.680G>T p.G227V Missense 7/10 - 1
7-44187432-C-G c.680G>C p.G227A Missense 7/10 - 1
7-44187432-C-T c.680G>A p.G227D Missense 7/10 - 4
7-44187528-T-C c.680-96A>G - IntronicSNV - 6/9 1
7-44188220-T-C c.680-788A>G - IntronicSNV - 6/9 2
7-44188409-C-T c.679+950G>A - IntronicSNV - 6/9 1
7-44189010-C-G c.679+349G>C - IntronicSNV - 6/9 1
7-44189010-C-T c.679+349G>A - IntronicSNV - 6/9 1
7-44189023-T-C c.679+336A>G - IntronicSNV - 6/9 2
7-44189165-C-T c.679+194G>A - IntronicSNV - 6/9 1
7-44189166-G-A c.679+193C>T - IntronicSNV - 6/9 1
7-44189177-T-C c.679+182A>G - IntronicSNV - 6/9 1
7-44189183-T-C c.679+176A>G - IntronicSNV - 6/9 1
7-44189190-G-A c.679+169C>T - IntronicSNV - 6/9 1
7-44189198-C-T c.679+161G>A - IntronicSNV - 6/9 1
7-44189274-T-C c.679+85A>G - IntronicSNV - 6/9 10
7-44189286-A-G c.679+73T>C - IntronicSNV - 6/9 1
7-44189298-G-A c.679+61C>T - IntronicSNV - 6/9 1
7-44189321-A-G c.679+38T>C - IntronicSNV - 6/9 13
7-44189321-A-T c.679+38T>A - IntronicSNV - 6/9 8
7-44189329-G-A c.679+30C>T - IntronicSNV - 6/9 1
7-44189357-A-G c.679+2T>C - IntronicSNV - 6/9 1
7-44189358-C-G c.679+1G>C - IntronicSNV - 6/9 1
7-44189358-C-T c.679+1G>A - IntronicSNV - 6/9 2
7-44189356-TACCC-T c.678_679+2del - SpliceDonorDeletion 6/10 - 3
7-44189359-C-A c.679G>T p.G227C Missense 6/10 - 6
7-44189359-C-G c.679G>C p.G227R Missense 6/10 - 2
7-44189359-C-T c.679G>A p.G227S Missense 6/10 - 2
7-44189357-AC-A c.679+1del - IntronicDeletion 6/10 - 1
7-44189360-CAC-AAA c.676_678delinsTTT p.V226F Missense 6/10 - 1
7-44189360-CAC-ACA c.676_678delinsTGT p.V226C Missense 6/10 - 1
7-44189360-CAC-ATA c.676_678delinsTAT p.V226Y Missense 6/10 - 1
7-44189360-CAC-ATG c.676_678delinsCAT p.V226H Missense 6/10 - 1
7-44189360-CAC-GAT c.676_678delinsATC p.V226I Missense 6/10 - 1
7-44189360-CAC-GTT c.676_678delinsAAC p.V226N Missense 6/10 - 1
7-44189360-CA-GT c.677_678delinsAC p.V226D Missense 6/10 - 1
7-44189361-A-C c.677T>G p.V226G Missense 6/10 - 1
7-44189361-AC-CA c.676_677delinsTG p.V226W Missense 6/10 - 1
7-44189361-AC-CT c.676_677delinsAG p.V226R Missense 6/10 - 1
7-44189361-AC-GA c.676_677delinsTC p.V226S Missense 6/10 - 1
7-44189361-AC-GG c.676_677delinsCC p.V226P Missense 6/10 - 1
7-44189361-AC-GT c.676_677inv p.V226T Missense 6/10 - 1
7-44189361-AC-TG c.676_677delinsCA p.V226Q Missense 6/10 - 1
7-44189361-AC-TT c.676_677delinsAA p.V226K Missense 6/10 - 1
7-44189361-A-G c.677T>C p.V226A Missense 6/10 - 4
7-44189361-A-T c.677T>A p.V226E Missense 6/10 - 3
7-44189362-C-A c.676G>T p.V226L Missense 6/10 - 2
7-44189362-C-G c.676G>C p.V226L Missense 6/10 - 2
7-44189362-C-T c.676G>A p.V226M Missense 6/10 - 25
7-44189363-G-A c.675C>T p.I225= Synonymous 6/10 - 3
7-44189363-GA-CC c.674_675delinsGG p.I225R Missense 6/10 - 1
7-44189363-GA-CT c.674_675delinsAG p.I225K Missense 6/10 - 1
7-44189363-GAT-CCA c.673_675delinsTGG p.I225W Missense 6/10 - 1
7-44189363-GAT-CTC c.673_675delinsGAG p.I225E Missense 6/10 - 1
7-44189363-GAT-TTG c.673_675delinsCAA p.I225Q Missense 6/10 - 1
7-44189363-G-C c.675C>G p.I225M Missense 6/10 - 9
7-44189364-A-C c.674T>G p.I225S Missense 6/10 - 1
7-44189364-A-G c.674T>C p.I225T Missense 6/10 - 1
7-44189364-A-T c.674T>A p.I225N Missense 6/10 - 1
7-44189364-AT-CA c.673_674delinsTG p.I225C Missense 6/10 - 1
7-44189364-AT-CC c.673_674delinsGG p.I225G Missense 6/10 - 1
7-44189364-AT-GC c.673_674delinsGC p.I225A Missense 6/10 - 1
7-44189364-AT-GG c.673_674delinsCC p.I225P Missense 6/10 - 1
7-44189364-AT-TA c.673_674delinsTA p.I225Y Missense 6/10 - 1
7-44189364-AT-TC c.673_674delinsGA p.I225D Missense 6/10 - 1
7-44189364-AT-TG c.673_674delinsCA p.I225H Missense 6/10 - 1
7-44189365-T-A c.673A>T p.I225F Missense 6/10 - 3
7-44189365-T-C c.673A>G p.I225V Missense 6/10 - 1
7-44189365-T-G c.673A>C p.I225L Missense 6/10 - 1
7-44189366-C-A c.672G>T p.M224I Missense 6/10 - 1
7-44189366-CA-GC c.671_672delinsGC p.M224S Missense 6/10 - 1
7-44189366-CA-GT c.671_672delinsAC p.M224N Missense 6/10 - 1
7-44189366-CAT-AAA c.670_672delinsTTT p.M224F Missense 6/10 - 1
7-44189366-CAT-ACA c.670_672delinsTGT p.M224C Missense 6/10 - 1
7-44189366-CAT-ATA c.670_672delinsTAT p.M224Y Missense 6/10 - 1
7-44189366-CAT-ATG c.670_672inv p.M224H Missense 6/10 - 1
7-44189366-CAT-GTC c.670_672delinsGAC p.M224D Missense 6/10 - 1
7-44189366-C-G c.672G>C p.M224I Missense 6/10 - 1
7-44189366-C-T c.672G>A p.M224I Missense 6/10 - 1
7-44189367-A-C c.671T>G p.M224R Missense 6/10 - 2
7-44189367-A-G c.671T>C p.M224T Missense 6/10 - 3
7-44189367-A-T c.671T>A p.M224K Missense 6/10 - 3
7-44189367-AT-CA c.670_671delinsTG p.M224W Missense 6/10 - 1
7-44189367-AT-CC c.670_671delinsGG p.M224G Missense 6/10 - 1
7-44189367-AT-GC c.670_671delinsGC p.M224A Missense 6/10 - 1
7-44189367-AT-GG c.670_671delinsCC p.M224P Missense 6/10 - 1
7-44189367-AT-TC c.670_671delinsGA p.M224E Missense 6/10 - 1
7-44189367-AT-TG c.670_671delinsCA p.M224Q Missense 6/10 - 1
7-44189368-T-A c.670A>T p.M224L Missense 6/10 - 1
7-44189368-T-C c.670A>G p.M224V Missense 6/10 - 1
7-44189368-T-G c.670A>C p.M224L Missense 6/10 - 1
7-44189369-G-A c.669C>T p.G223= Synonymous 6/10 - 1
7-44189369-GCC-CAT c.667_669delinsATG p.G223M Missense 6/10 - 1
7-44189369-GCC-CCA c.667_669delinsTGG p.G223W Missense 6/10 - 1
7-44189369-GCC-CTT c.667_669delinsAAG p.G223K Missense 6/10 - 1
7-44189369-GC-CT c.668_669delinsAG p.G223E Missense 6/10 - 1
7-44189369-GCC-TTG c.667_669delinsCAA p.G223Q Missense 6/10 - 1
7-44189370-C-A c.668G>T p.G223V Missense 6/10 - 3
7-44189370-CC-AA c.667_668delinsTT p.G223F Missense 6/10 - 1
7-44189370-CC-AG c.667_668delinsCT p.G223L Missense 6/10 - 1
7-44189370-CC-AT c.667_668delinsAT p.G223I Missense 6/10 - 1
7-44189370-CC-GG c.667_668inv p.G223P Missense 6/10 - 1
7-44189370-CC-GT c.667_668delinsAC p.G223T Missense 6/10 - 1
7-44189370-CC-TA c.667_668delinsTA p.G223Y Missense 6/10 - 1
7-44189370-CC-TG c.667_668delinsCA p.G223H Missense 6/10 - 2
7-44189370-CC-TT c.667_668delinsAA p.G223N Missense 6/10 - 1
7-44189370-C-G c.668G>C p.G223A Missense 6/10 - 1
7-44189370-C-T c.668G>A p.G223D Missense 6/10 - 1
7-44189371-C-A c.667G>T p.G223C Missense 6/10 - 1
7-44189371-C-G c.667G>C p.G223R Missense 6/10 - 3
7-44189371-C-T c.667G>A p.G223S Missense 6/10 - 20
7-44189372-G-A c.666C>T p.V222= Synonymous 6/10 - 5
7-44189372-GAC-CAT c.664_666delinsATG p.V222M Missense 6/10 - 1
7-44189372-GAC-CCA c.664_666delinsTGG p.V222W Missense 6/10 - 1
7-44189372-GAC-CTT c.664_666delinsAAG p.V222K Missense 6/10 - 1
7-44189372-GA-CT c.665_666delinsAG p.V222E Missense 6/10 - 1
7-44189372-GAC-TTG c.664_666delinsCAA p.V222Q Missense 6/10 - 1
7-44189372-G-C c.666C>G p.V222= Synonymous 6/10 - 1
7-44189372-G-T c.666C>A p.V222= Synonymous 6/10 - 1
7-44189373-A-C c.665T>G p.V222G Missense 6/10 - 1
7-44189373-AC-CA c.664_665delinsTG p.V222C Missense 6/10 - 1
7-44189373-AC-CG c.664_665delinsCG p.V222R Missense 6/10 - 1
7-44189373-AC-CT c.664_665delinsAG p.V222S Missense 6/10 - 1
7-44189373-AC-GG c.664_665delinsCC p.V222P Missense 6/10 - 1
7-44189373-AC-GT c.664_665inv p.V222T Missense 6/10 - 1
7-44189373-AC-TA c.664_665delinsTA p.V222Y Missense 6/10 - 1
7-44189373-AC-TG c.664_665delinsCA p.V222H Missense 6/10 - 1
7-44189373-AC-TT c.664_665delinsAA p.V222N Missense 6/10 - 1
7-44189373-A-G c.665T>C p.V222A Missense 6/10 - 3
7-44189373-A-T c.665T>A p.V222D Missense 6/10 - 1
7-44189374-C-A c.664G>T p.V222F Missense 6/10 - 2
7-44189374-C-G c.664G>C p.V222L Missense 6/10 - 1
7-44189374-C-T c.664G>A p.V222I Missense 6/10 - 2
7-44189375-C-A c.663G>T p.E221D Missense 6/10 - 1
7-44189375-C-G c.663G>C p.E221D Missense 6/10 - 1
7-44189375-CTC-AAA c.661_663delinsTTT p.E221F Missense 6/10 - 1
7-44189375-CTC-ACA c.661_663delinsTGT p.E221C Missense 6/10 - 1
7-44189375-CTC-ATA c.661_663delinsTAT p.E221Y Missense 6/10 - 1
7-44189375-CTC-ATG c.661_663delinsCAT p.E221H Missense 6/10 - 1
7-44189375-CTC-GAT c.661_663delinsATC p.E221I Missense 6/10 - 1
7-44189375-CTC-GTT c.661_663delinsAAC p.E221N Missense 6/10 - 1
7-44189376-T-A c.662A>T p.E221V Missense 6/10 - 1
7-44189376-T-C c.662A>G p.E221G Missense 6/10 - 1
7-44189376-TC-AG c.661_662delinsCT p.E221L Missense 6/10 - 1
7-44189376-TC-AT c.661_662delinsAT p.E221M Missense 6/10 - 1
7-44189376-TC-CA c.661_662delinsTG p.E221W Missense 6/10 - 1
7-44189376-TC-CT c.661_662delinsAG p.E221R Missense 6/10 - 1
7-44189376-TC-GA c.661_662inv p.E221S Missense 6/10 - 1
7-44189376-TC-GG c.661_662delinsCC p.E221P Missense 6/10 - 1
7-44189376-TC-GT c.661_662delinsAC p.E221T Missense 6/10 - 1
7-44189376-T-G c.662A>C p.E221A Missense 6/10 - 1
7-44189377-C-A c.661G>T p.E221* Nonsense 6/10 - 1
7-44189377-C-G c.661G>C p.E221Q Missense 6/10 - 1
7-44189377-C-T c.661G>A p.E221K Missense 6/10 - 23
7-44189378-G-A c.660C>T p.C220= Synonymous 6/10 - 2
7-44189378-G-C c.660C>G p.C220W Missense 6/10 - 1
7-44189378-GCA-CAT c.658_660delinsATG p.C220M Missense 6/10 - 1
7-44189378-GCA-CTC c.658_660delinsGAG p.C220E Missense 6/10 - 1
7-44189378-GCA-CTT c.658_660delinsAAG p.C220K Missense 6/10 - 1
7-44189378-GCA-TTG c.658_660delinsCAA p.C220Q Missense 6/10 - 1
7-44189378-G-T c.660C>A p.C220* Nonsense 6/10 - 7
7-44189379-C-A c.659G>T p.C220F Missense 6/10 - 1
7-44189379-CA-AC c.658_659delinsGT p.C220V Missense 6/10 - 1
7-44189379-CA-AG c.658_659delinsCT p.C220L Missense 6/10 - 1
7-44189379-CA-AT c.658_659delinsAT p.C220I Missense 6/10 - 1
7-44189379-CA-GC c.658_659delinsGC p.C220A Missense 6/10 - 1
7-44189379-CA-GG c.658_659delinsCC p.C220P Missense 6/10 - 1
7-44189379-CA-GT c.658_659delinsAC p.C220T Missense 6/10 - 1
7-44189379-CA-TC c.658_659delinsGA p.C220D Missense 6/10 - 1
7-44189379-CA-TG c.658_659inv p.C220H Missense 6/10 - 1
7-44189379-CA-TT c.658_659delinsAA p.C220N Missense 6/10 - 1
7-44189379-C-T c.659G>A p.C220Y Missense 6/10 - 9
7-44189379-C-G c.659G>C p.C220S Missense 6/10 - 4
7-44189380-A-C c.658T>G p.C220G Missense 6/10 - 1
7-44189380-A-G c.658T>C p.C220R Missense 6/10 - 6
7-44189380-A-T c.658T>A p.C220S Missense 6/10 - 5
7-44189381-C-A c.657G>T p.Q219H Missense 6/10 - 1
7-44189381-C-G c.657G>C p.Q219H Missense 6/10 - 1
7-44189381-CTG-AAA c.655_657delinsTTT p.Q219F Missense 6/10 - 1
7-44189381-CTG-ACA c.655_657delinsTGT p.Q219C Missense 6/10 - 1
7-44189381-CTG-ATA c.655_657delinsTAT p.Q219Y Missense 6/10 - 1
7-44189381-CTG-GAT c.655_657delinsATC p.Q219I Missense 6/10 - 1
7-44189381-CTG-GTC c.655_657delinsGAC p.Q219D Missense 6/10 - 1
7-44189381-CTG-GTT c.655_657delinsAAC p.Q219N Missense 6/10 - 1
7-44189382-T-A c.656A>T p.Q219L Missense 6/10 - 1
7-44189382-T-C c.656A>G p.Q219R Missense 6/10 - 1
7-44189382-T-G c.656A>C p.Q219P Missense 6/10 - 1
7-44189382-TG-AC c.655_656delinsGT p.Q219V Missense 6/10 - 1
7-44189382-TG-AT c.655_656delinsAT p.Q219M Missense 6/10 - 1
7-44189382-TG-CA c.655_656inv p.Q219W Missense 6/10 - 1
7-44189382-TG-CC c.655_656delinsGG p.Q219G Missense 6/10 - 1
7-44189382-TG-GA c.655_656delinsTC p.Q219S Missense 6/10 - 1
7-44189382-TG-GC c.655_656delinsGC p.Q219A Missense 6/10 - 1
7-44189382-TG-GT c.655_656delinsAC p.Q219T Missense 6/10 - 1
7-44189383-G-A c.655C>T p.Q219* Nonsense 6/10 - 1
7-44189383-G-C c.655C>G p.Q219E Missense 6/10 - 1
7-44189383-G-T c.655C>A p.Q219K Missense 6/10 - 1
7-44189384-A-C c.654T>G p.H218Q Missense 6/10 - 1
7-44189384-A-T c.654T>A p.H218Q Missense 6/10 - 2
7-44189384-ATG-CAT c.652_654inv p.H218M Missense 6/10 - 1
7-44189384-ATG-CCA c.652_654delinsTGG p.H218W Missense 6/10 - 1
7-44189384-ATG-CTC c.652_654delinsGAG p.H218E Missense 6/10 - 1
7-44189384-ATG-CTT c.652_654delinsAAG p.H218K Missense 6/10 - 1
7-44189385-T-A c.653A>T p.H218L Missense 6/10 - 1
7-44189385-T-C c.653A>G p.H218R Missense 6/10 - 1
7-44189385-T-G c.653A>C p.H218P Missense 6/10 - 1
7-44189385-TG-AA c.652_653delinsTT p.H218F Missense 6/10 - 1
7-44189385-TG-AC c.652_653delinsGT p.H218V Missense 6/10 - 1
7-44189385-TG-AT c.652_653delinsAT p.H218I Missense 6/10 - 1
7-44189385-TG-CA c.652_653inv p.H218C Missense 6/10 - 1
7-44189385-TG-CC c.652_653delinsGG p.H218G Missense 6/10 - 1
7-44189385-TG-CT c.652_653delinsAG p.H218S Missense 6/10 - 1
7-44189385-TG-GC c.652_653delinsGC p.H218A Missense 6/10 - 1
7-44189385-TG-GT c.652_653delinsAC p.H218T Missense 6/10 - 1
7-44189386-G-A c.652C>T p.H218Y Missense 6/10 - 1
7-44189386-G-C c.652C>G p.H218D Missense 6/10 - 1
7-44189386-G-T c.652C>A p.H218N Missense 6/10 - 1
7-44189387-G-C c.651C>G p.D217E Missense 6/10 - 2
7-44189387-G-T c.651C>A p.D217E Missense 6/10 - 3
7-44189387-GTC-CAT c.649_651delinsATG p.D217M Missense 6/10 - 1
7-44189387-GTC-CCA c.649_651delinsTGG p.D217W Missense 6/10 - 1
7-44189387-GTC-CTT c.649_651delinsAAG p.D217K Missense 6/10 - 1
7-44189387-GTC-TTG c.649_651delinsCAA p.D217Q Missense 6/10 - 1
7-44189388-T-A c.650A>T p.D217V Missense 6/10 - 1
7-44189388-T-C c.650A>G p.D217G Missense 6/10 - 1
7-44189388-TC-AA c.649_650delinsTT p.D217F Missense 6/10 - 1
7-44189388-TC-AG c.649_650delinsCT p.D217L Missense 6/10 - 1
7-44189388-TC-AT c.649_650delinsAT p.D217I Missense 6/10 - 1
7-44189388-TC-CA c.649_650delinsTG p.D217C Missense 6/10 - 1
7-44189388-TC-CG c.649_650delinsCG p.D217R Missense 6/10 - 1
7-44189388-TC-CT c.649_650delinsAG p.D217S Missense 6/10 - 1
7-44189388-TC-GG c.649_650delinsCC p.D217P Missense 6/10 - 1
7-44189388-TC-GT c.649_650delinsAC p.D217T Missense 6/10 - 1
7-44189388-T-G c.650A>C p.D217A Missense 6/10 - 1
7-44189389-C-A c.649G>T p.D217Y Missense 6/10 - 1
7-44189389-C-G c.649G>C p.D217H Missense 6/10 - 1
7-44189389-C-T c.649G>A p.D217N Missense 6/10 - 10
7-44189390-T-A c.648A>T p.E216D Missense 6/10 - 2
7-44189390-T-G c.648A>C p.E216D Missense 6/10 - 2
7-44189390-TTC-AAA c.646_648delinsTTT p.E216F Missense 6/10 - 1
7-44189390-TTC-ACA c.646_648delinsTGT p.E216C Missense 6/10 - 1
7-44189390-TTC-ATA c.646_648delinsTAT p.E216Y Missense 6/10 - 1
7-44189390-TTC-ATG c.646_648delinsCAT p.E216H Missense 6/10 - 1
7-44189390-TTC-CAT c.646_648delinsATG p.E216M Missense 6/10 - 1
7-44189390-TTC-CCA c.646_648delinsTGG p.E216W Missense 6/10 - 1
7-44189390-TTC-GTT c.646_648delinsAAC p.E216N Missense 6/10 - 1
7-44189391-T-A c.647A>T p.E216V Missense 6/10 - 4
7-44189391-T-C c.647A>G p.E216G Missense 6/10 - 1
7-44189391-TC-AG c.646_647delinsCT p.E216L Missense 6/10 - 1
7-44189391-TC-AT c.646_647delinsAT p.E216I Missense 6/10 - 1
7-44189391-TC-CT c.646_647delinsAG p.E216R Missense 6/10 - 1
7-44189391-TC-GA c.646_647inv p.E216S Missense 6/10 - 1
7-44189391-TC-GG c.646_647delinsCC p.E216P Missense 6/10 - 1
7-44189391-TC-GT c.646_647delinsAC p.E216T Missense 6/10 - 1
7-44189391-T-G c.647A>C p.E216A Missense 6/10 - 1
7-44189392-C-A c.646G>T p.E216* Nonsense 6/10 - 1
7-44189392-C-G c.646G>C p.E216Q Missense 6/10 - 1
7-44189392-C-T c.646G>A p.E216K Missense 6/10 - 5
7-44189393-G-A c.645C>T p.Y215= Synonymous 6/10 - 6
7-44189393-G-C c.645C>G p.Y215* Nonsense 6/10 - 5
7-44189393-G-T c.645C>A p.Y215* Nonsense 6/10 - 10
7-44189393-GTA-CAT c.643_645delinsATG p.Y215M Missense 6/10 - 1
7-44189393-GTA-CTC c.643_645delinsGAG p.Y215E Missense 6/10 - 1
7-44189393-GTA-CTT c.643_645delinsAAG p.Y215K Missense 6/10 - 1
7-44189393-GTA-TTG c.643_645delinsCAA p.Y215Q Missense 6/10 - 1
7-44189393-GT-CC c.644_645delinsGG p.Y215W Missense 6/10 - 1
7-44189394-T-A c.644A>T p.Y215F Missense 6/10 - 6
7-44189394-TA-AC c.643_644delinsGT p.Y215V Missense 6/10 - 1
7-44189394-TA-AG c.643_644delinsCT p.Y215L Missense 6/10 - 1
7-44189394-TA-AT c.643_644delinsAT p.Y215I Missense 6/10 - 1
7-44189394-TA-CC c.643_644delinsGG p.Y215G Missense 6/10 - 1
7-44189394-TA-CG c.643_644delinsCG p.Y215R Missense 6/10 - 1
7-44189394-TA-GC c.643_644delinsGC p.Y215A Missense 6/10 - 2
7-44189394-TA-GG c.643_644delinsCC p.Y215P Missense 6/10 - 1
7-44189394-TA-GT c.643_644delinsAC p.Y215T Missense 6/10 - 1
7-44189394-T-C c.644A>G p.Y215C Missense 6/10 - 1
7-44189394-T-G c.644A>C p.Y215S Missense 6/10 - 2
7-44189395-A-C c.643T>G p.Y215D Missense 6/10 - 1
7-44189395-A-G c.643T>C p.Y215H Missense 6/10 - 1
7-44189395-A-T c.643T>A p.Y215N Missense 6/10 - 1
7-44189396-G-A c.642C>T p.Y214= Synonymous 6/10 - 1
7-44189396-G-T c.642C>A p.Y214* Nonsense 6/10 - 1
7-44189396-GTA-CAT c.640_642delinsATG p.Y214M Missense 6/10 - 1
7-44189396-GTA-CTC c.640_642delinsGAG p.Y214E Missense 6/10 - 1
7-44189396-GTA-CTT c.640_642delinsAAG p.Y214K Missense 6/10 - 1
7-44189396-GTA-TTG c.640_642delinsCAA p.Y214Q Missense 6/10 - 1
7-44189396-GT-CC c.641_642delinsGG p.Y214W Missense 6/10 - 1
7-44189396-G-GT c.641dup p.Y214* Nonsense 6/10 - 3
7-44189397-T-A c.641A>T p.Y214F Missense 6/10 - 3
7-44189397-TA-AC c.640_641delinsGT p.Y214V Missense 6/10 - 1
7-44189397-TA-AG c.640_641delinsCT p.Y214L Missense 6/10 - 1
7-44189397-TA-AT c.640_641delinsAT p.Y214I Missense 6/10 - 1
7-44189397-TA-CC c.640_641delinsGG p.Y214G Missense 6/10 - 1
7-44189397-TA-CG c.640_641delinsCG p.Y214R Missense 6/10 - 1
7-44189397-TA-GC c.640_641delinsGC p.Y214A Missense 6/10 - 3
7-44189397-TA-GG c.640_641delinsCC p.Y214P Missense 6/10 - 1
7-44189397-TA-GT c.640_641delinsAC p.Y214T Missense 6/10 - 1
7-44189397-T-C c.641A>G p.Y214C Missense 6/10 - 19
7-44189397-T-G c.641A>C p.Y214S Missense 6/10 - 2
7-44189398-A-C c.640T>G p.Y214D Missense 6/10 - 3
7-44189398-A-G c.640T>C p.Y214H Missense 6/10 - 1
7-44189398-A-T c.640T>A p.Y214N Missense 6/10 - 1
7-44189399-G-A c.639C>T p.C213= Synonymous 6/10 - 1
7-44189399-G-C c.639C>G p.C213W Missense 6/10 - 1
7-44189399-GCA-CAT c.637_639delinsATG p.C213M Missense 6/10 - 1
7-44189399-GCA-CTC c.637_639delinsGAG p.C213E Missense 6/10 - 1
7-44189399-GCA-CTT c.637_639delinsAAG p.C213K Missense 6/10 - 1
7-44189399-GCA-TTG c.637_639delinsCAA p.C213Q Missense 6/10 - 1
7-44189400-C-A c.638G>T p.C213F Missense 6/10 - 1
7-44189400-CA-AC c.637_638delinsGT p.C213V Missense 6/10 - 1
7-44189400-CA-AG c.637_638delinsCT p.C213L Missense 6/10 - 1
7-44189400-CA-AT c.637_638delinsAT p.C213I Missense 6/10 - 1
7-44189400-CA-GC c.637_638delinsGC p.C213A Missense 6/10 - 1
7-44189400-CA-GG c.637_638delinsCC p.C213P Missense 6/10 - 1
7-44189400-CA-GT c.637_638delinsAC p.C213T Missense 6/10 - 1
7-44189400-CA-TC c.637_638delinsGA p.C213D Missense 6/10 - 1
7-44189400-CA-TG c.637_638inv p.C213H Missense 6/10 - 1
7-44189400-CA-TT c.637_638delinsAA p.C213N Missense 6/10 - 1
7-44189400-C-T c.638G>A p.C213Y Missense 6/10 - 3
7-44189400-C-G c.638G>C p.C213S Missense 6/10 - 1
7-44189401-A-C c.637T>G p.C213G Missense 6/10 - 1
7-44189401-A-G c.637T>C p.C213R Missense 6/10 - 8
7-44189401-A-T c.637T>A p.C213S Missense 6/10 - 1
7-44189402-GGA-CAT c.634_636delinsATG p.S212M Missense 6/10 - 1
7-44189402-GGA-CTC c.634_636delinsGAG p.S212E Missense 6/10 - 1
7-44189402-GGA-CTT c.634_636delinsAAG p.S212K Missense 6/10 - 1
7-44189402-GGA-TTG c.634_636delinsCAA p.S212Q Missense 6/10 - 1
7-44189402-GG-CC c.635_636inv p.S212W Missense 6/10 - 1
7-44189400-CAGG-C c.635_637del p.S212del InFrameDeletion 6/10 - 4
7-44189403-G-A c.635C>T p.S212F Missense 6/10 - 2
7-44189403-GA-AC c.634_635delinsGT p.S212V Missense 6/10 - 1
7-44189403-GA-AG c.634_635delinsCT p.S212L Missense 6/10 - 1
7-44189403-GA-AT c.634_635delinsAT p.S212I Missense 6/10 - 1
7-44189403-GA-CC c.634_635delinsGG p.S212G Missense 6/10 - 1
7-44189403-GA-CG c.634_635delinsCG p.S212R Missense 6/10 - 1
7-44189403-GA-TC c.634_635inv p.S212D Missense 6/10 - 1
7-44189403-GA-TG c.634_635delinsCA p.S212H Missense 6/10 - 1
7-44189403-GA-TT c.634_635delinsAA p.S212N Missense 6/10 - 1
7-44189403-G-C c.635C>G p.S212C Missense 6/10 - 1
7-44189403-G-T c.635C>A p.S212Y Missense 6/10 - 1
7-44189404-A-C c.634T>G p.S212A Missense 6/10 - 1
7-44189404-A-G c.634T>C p.S212P Missense 6/10 - 2
7-44189404-A-T c.634T>A p.S212T Missense 6/10 - 1
7-44189405-GA-CC c.632_633delinsGG p.I211R Missense 6/10 - 1
7-44189405-GA-CT c.632_633delinsAG p.I211K Missense 6/10 - 1
7-44189405-GAT-CCA c.631_633delinsTGG p.I211W Missense 6/10 - 1
7-44189405-GAT-CTC c.631_633delinsGAG p.I211E Missense 6/10 - 1
7-44189405-GAT-TTG c.631_633delinsCAA p.I211Q Missense 6/10 - 1
7-44189405-G-C c.633C>G p.I211M Missense 6/10 - 1
7-44189406-A-C c.632T>G p.I211S Missense 6/10 - 1
7-44189406-A-G c.632T>C p.I211T Missense 6/10 - 1
7-44189406-A-T c.632T>A p.I211N Missense 6/10 - 2
7-44189406-AT-CA c.631_632delinsTG p.I211C Missense 6/10 - 1
7-44189406-AT-CC c.631_632delinsGG p.I211G Missense 6/10 - 1
7-44189406-AT-GC c.631_632delinsGC p.I211A Missense 6/10 - 1
7-44189406-AT-GG c.631_632delinsCC p.I211P Missense 6/10 - 1
7-44189406-AT-TA c.631_632delinsTA p.I211Y Missense 6/10 - 1
7-44189406-AT-TC c.631_632delinsGA p.I211D Missense 6/10 - 1
7-44189406-AT-TG c.631_632delinsCA p.I211H Missense 6/10 - 1
7-44189407-T-A c.631A>T p.I211F Missense 6/10 - 5
7-44189407-T-C c.631A>G p.I211V Missense 6/10 - 3
7-44189407-T-G c.631A>C p.I211L Missense 6/10 - 1
7-44189408-C-A c.630G>T p.M210I Missense 6/10 - 3
7-44189408-CA-GC c.629_630delinsGC p.M210S Missense 6/10 - 1
7-44189408-CA-GT c.629_630delinsAC p.M210N Missense 6/10 - 1
7-44189408-CAT-AAA c.628_630delinsTTT p.M210F Missense 6/10 - 1
7-44189408-CAT-ACA c.628_630delinsTGT p.M210C Missense 6/10 - 1
7-44189408-CAT-ATA c.628_630delinsTAT p.M210Y Missense 6/10 - 1
7-44189408-CAT-ATG c.628_630inv p.M210H Missense 6/10 - 1
7-44189408-CAT-GTC c.628_630delinsGAC p.M210D Missense 6/10 - 1
7-44189408-C-G c.630G>C p.M210I Missense 6/10 - 1
7-44189408-C-T c.630G>A p.M210I Missense 6/10 - 5
7-44189409-A-C c.629T>G p.M210R Missense 6/10 - 1
7-44189409-A-G c.629T>C p.M210T Missense 6/10 - 8
7-44189409-A-T c.629T>A p.M210K Missense 6/10 - 10
7-44189409-AT-CA c.628_629delinsTG p.M210W Missense 6/10 - 1
7-44189409-AT-CC c.628_629delinsGG p.M210G Missense 6/10 - 1
7-44189409-AT-GC c.628_629delinsGC p.M210A Missense 6/10 - 1
7-44189409-AT-GG c.628_629delinsCC p.M210P Missense 6/10 - 1
7-44189409-AT-TC c.628_629delinsGA p.M210E Missense 6/10 - 1
7-44189409-AT-TG c.628_629delinsCA p.M210Q Missense 6/10 - 1
7-44189410-T-A c.628A>T p.M210L Missense 6/10 - 1
7-44189410-T-C c.628A>G p.M210V Missense 6/10 - 1
7-44189410-T-G c.628A>C p.M210L Missense 6/10 - 1
7-44189411-CG-GA c.626_627delinsTC p.T209I Missense 6/10 - 1
7-44189411-CG-GT c.626_627delinsAC p.T209N Missense 6/10 - 2
7-44189411-CGT-AAA c.625_627delinsTTT p.T209F Missense 6/10 - 1
7-44189411-CGT-ACA c.625_627delinsTGT p.T209C Missense 6/10 - 1
7-44189411-CGT-ATA c.625_627delinsTAT p.T209Y Missense 6/10 - 1
7-44189411-CGT-ATG c.625_627delinsCAT p.T209H Missense 6/10 - 1
7-44189411-CGT-GTC c.625_627delinsGAC p.T209D Missense 6/10 - 1
7-44189412-G-A c.626C>T p.T209M Missense 6/10 - 13
7-44189412-G-C c.626C>G p.T209R Missense 6/10 - 4
7-44189412-G-T c.626C>A p.T209K Missense 6/10 - 2
7-44189412-GT-AC c.625_626inv p.T209V Missense 6/10 - 1
7-44189412-GT-AG c.625_626delinsCT p.T209L Missense 6/10 - 1
7-44189412-GT-CA c.625_626delinsTG p.T209W Missense 6/10 - 1
7-44189412-GT-CC c.625_626delinsGG p.T209G Missense 6/10 - 1
7-44189412-GT-TC c.625_626delinsGA p.T209E Missense 6/10 - 1
7-44189412-GT-TG c.625_626delinsCA p.T209Q Missense 6/10 - 1
7-44189413-T-A c.625A>T p.T209S Missense 6/10 - 1
7-44189413-T-C c.625A>G p.T209A Missense 6/10 - 1
7-44189413-T-G c.625A>C p.T209P Missense 6/10 - 2
7-44189414-G-A c.624C>T p.A208= Synonymous 6/10 - 1
7-44189414-GGC-CAT c.622_624delinsATG p.A208M Missense 6/10 - 1
7-44189414-GGC-CCA c.622_624delinsTGG p.A208W Missense 6/10 - 1
7-44189414-GGC-CTT c.622_624delinsAAG p.A208K Missense 6/10 - 1
7-44189414-GG-CT c.623_624delinsAG p.A208E Missense 6/10 - 1
7-44189414-GGC-TTG c.622_624delinsCAA p.A208Q Missense 6/10 - 1
7-44189415-G-A c.623C>T p.A208V Missense 6/10 - 7
7-44189415-G-C c.623C>G p.A208G Missense 6/10 - 3
7-44189415-GC-AA c.622_623delinsTT p.A208F Missense 6/10 - 1
7-44189415-GC-AG c.622_623delinsCT p.A208L Missense 6/10 - 1
7-44189415-GC-AT c.622_623delinsAT p.A208I Missense 6/10 - 1
7-44189415-GC-CA c.622_623delinsTG p.A208C Missense 6/10 - 1
7-44189415-GC-CG c.622_623delinsCG p.A208R Missense 6/10 - 1
7-44189415-GC-TA c.622_623delinsTA p.A208Y Missense 6/10 - 1
7-44189415-GC-TG c.622_623delinsCA p.A208H Missense 6/10 - 1
7-44189415-GC-TT c.622_623delinsAA p.A208N Missense 6/10 - 1
7-44189415-G-T c.623C>A p.A208D Missense 6/10 - 1
7-44189416-C-A c.622G>T p.A208S Missense 6/10 - 2
7-44189416-C-G c.622G>C p.A208P Missense 6/10 - 2
7-44189416-C-T c.622G>A p.A208T Missense 6/10 - 8
7-44189417-CAC-AAA c.619_621delinsTTT p.V207F Missense 6/10 - 1
7-44189417-CAC-ACA c.619_621delinsTGT p.V207C Missense 6/10 - 1
7-44189417-CAC-ATA c.619_621delinsTAT p.V207Y Missense 6/10 - 1
7-44189417-CAC-ATG c.619_621delinsCAT p.V207H Missense 6/10 - 1
7-44189417-CAC-GAT c.619_621delinsATC p.V207I Missense 6/10 - 1
7-44189417-CAC-GTT c.619_621delinsAAC p.V207N Missense 6/10 - 1
7-44189417-CA-GT c.620_621delinsAC p.V207D Missense 6/10 - 1
7-44189417-C-T c.621G>A p.V207= Synonymous 6/10 - 1
7-44189418-A-C c.620T>G p.V207G Missense 6/10 - 1
7-44189418-AC-CA c.619_620delinsTG p.V207W Missense 6/10 - 1
7-44189418-AC-CT c.619_620delinsAG p.V207R Missense 6/10 - 1
7-44189418-AC-GA c.619_620delinsTC p.V207S Missense 6/10 - 1
7-44189418-AC-GG c.619_620delinsCC p.V207P Missense 6/10 - 1
7-44189418-AC-GT c.619_620inv p.V207T Missense 6/10 - 1
7-44189418-AC-TG c.619_620delinsCA p.V207Q Missense 6/10 - 1
7-44189418-AC-TT c.619_620delinsAA p.V207K Missense 6/10 - 1
7-44189418-A-G c.620T>C p.V207A Missense 6/10 - 1
7-44189418-A-T c.620T>A p.V207E Missense 6/10 - 2
7-44189419-C-A c.619G>T p.V207L Missense 6/10 - 3
7-44189419-C-G c.619G>C p.V207L Missense 6/10 - 1
7-44189419-C-T c.619G>A p.V207M Missense 6/10 - 1
7-44189420-CG-GA c.617_618delinsTC p.T206I Missense 6/10 - 1
7-44189420-CG-GT c.617_618delinsAC p.T206N Missense 6/10 - 1
7-44189420-CGT-AAA c.616_618delinsTTT p.T206F Missense 6/10 - 1
7-44189420-CGT-ACA c.616_618delinsTGT p.T206C Missense 6/10 - 1
7-44189420-CGT-ATA c.616_618delinsTAT p.T206Y Missense 6/10 - 1
7-44189420-CGT-ATG c.616_618delinsCAT p.T206H Missense 6/10 - 1
7-44189420-CGT-GTC c.616_618delinsGAC p.T206D Missense 6/10 - 1
7-44189420-C-T c.618G>A p.T206= Synonymous 6/10 - 3
7-44189421-G-A c.617C>T p.T206M Missense 6/10 - 15
7-44189421-G-C c.617C>G p.T206R Missense 6/10 - 4
7-44189421-G-T c.617C>A p.T206K Missense 6/10 - 1
7-44189421-GT-AC c.616_617inv p.T206V Missense 6/10 - 1
7-44189421-GT-AG c.616_617delinsCT p.T206L Missense 6/10 - 1
7-44189421-GT-CA c.616_617delinsTG p.T206W Missense 6/10 - 1
7-44189421-GT-CC c.616_617delinsGG p.T206G Missense 6/10 - 1
7-44189421-GT-TC c.616_617delinsGA p.T206E Missense 6/10 - 1
7-44189421-GT-TG c.616_617delinsCA p.T206Q Missense 6/10 - 1
7-44189422-T-A c.616A>T p.T206S Missense 6/10 - 1
7-44189422-T-C c.616A>G p.T206A Missense 6/10 - 1
7-44189422-T-G c.616A>C p.T206P Missense 6/10 - 10
7-44189423-G-C c.615C>G p.D205E Missense 6/10 - 5
7-44189423-G-T c.615C>A p.D205E Missense 6/10 - 2
7-44189423-GTC-CAT c.613_615delinsATG p.D205M Missense 6/10 - 1
7-44189423-GTC-CCA c.613_615delinsTGG p.D205W Missense 6/10 - 1
7-44189423-GTC-CTT c.613_615delinsAAG p.D205K Missense 6/10 - 1
7-44189423-GTC-TTG c.613_615delinsCAA p.D205Q Missense 6/10 - 1
7-44189423-G-GT c.614dup p.D205Efs*70 Frameshift 6/10 - 1
7-44189424-T-A c.614A>T p.D205V Missense 6/10 - 1
7-44189424-T-C c.614A>G p.D205G Missense 6/10 - 1
7-44189424-TC-AA c.613_614delinsTT p.D205F Missense 6/10 - 1
7-44189424-TC-AG c.613_614delinsCT p.D205L Missense 6/10 - 1
7-44189424-TC-AT c.613_614delinsAT p.D205I Missense 6/10 - 1
7-44189424-TC-CA c.613_614delinsTG p.D205C Missense 6/10 - 1
7-44189424-TC-CG c.613_614delinsCG p.D205R Missense 6/10 - 1
7-44189424-TC-CT c.613_614delinsAG p.D205S Missense 6/10 - 1
7-44189424-TC-GG c.613_614delinsCC p.D205P Missense 6/10 - 1
7-44189424-TC-GT c.613_614delinsAC p.D205T Missense 6/10 - 1
7-44189424-T-G c.614A>C p.D205A Missense 6/10 - 1
7-44189425-C-A c.613G>T p.D205Y Missense 6/10 - 3
7-44189425-C-G c.613G>C p.D205H Missense 6/10 - 4
7-44189425-C-T c.613G>A p.D205N Missense 6/10 - 5
7-44189426-A-C c.612T>G p.N204K Missense 6/10 - 1
7-44189426-A-T c.612T>A p.N204K Missense 6/10 - 1
7-44189426-AT-CA c.611_612delinsTG p.N204M Missense 6/10 - 1
7-44189426-AT-CC c.611_612delinsGG p.N204R Missense 6/10 - 1
7-44189426-ATT-CCA c.610_612delinsTGG p.N204W Missense 6/10 - 1
7-44189426-ATT-CTC c.610_612delinsGAG p.N204E Missense 6/10 - 1
7-44189426-ATT-TTG c.610_612delinsCAA p.N204Q Missense 6/10 - 1
7-44189427-T-A c.611A>T p.N204I Missense 6/10 - 1
7-44189427-T-C c.611A>G p.N204S Missense 6/10 - 1
7-44189427-T-G c.611A>C p.N204T Missense 6/10 - 1
7-44189427-TT-AA c.610_611inv p.N204F Missense 6/10 - 1
7-44189427-TT-AC c.610_611delinsGT p.N204V Missense 6/10 - 1
7-44189427-TT-AG c.610_611delinsCT p.N204L Missense 6/10 - 1
7-44189427-TT-CA c.610_611delinsTG p.N204C Missense 6/10 - 1
7-44189427-TT-CC c.610_611delinsGG p.N204G Missense 6/10 - 1
7-44189427-TT-GC c.610_611delinsGC p.N204A Missense 6/10 - 4
7-44189427-TT-GG c.610_611delinsCC p.N204P Missense 6/10 - 1
7-44189428-T-A c.610A>T p.N204Y Missense 6/10 - 2
7-44189428-T-C c.610A>G p.N204D Missense 6/10 - 2
7-44189428-T-G c.610A>C p.N204H Missense 6/10 - 1
7-44189429-C-A c.609G>T p.V203= Synonymous 6/10 - 2
7-44189429-CAC-AAA c.607_609delinsTTT p.V203F Missense 6/10 - 1
7-44189429-CAC-ACA c.607_609delinsTGT p.V203C Missense 6/10 - 1
7-44189429-CAC-ATA c.607_609delinsTAT p.V203Y Missense 6/10 - 1
7-44189429-CAC-ATG c.607_609delinsCAT p.V203H Missense 6/10 - 1
7-44189429-CAC-GAT c.607_609delinsATC p.V203I Missense 6/10 - 1
7-44189429-CAC-GTT c.607_609delinsAAC p.V203N Missense 6/10 - 1
7-44189429-CA-GT c.608_609delinsAC p.V203D Missense 6/10 - 1
7-44189429-C-G c.609G>C p.V203= Synonymous 6/10 - 1
7-44189429-C-T c.609G>A p.V203= Synonymous 6/10 - 1
7-44189430-A-C c.608T>G p.V203G Missense 6/10 - 1
7-44189430-AC-CA c.607_608delinsTG p.V203W Missense 6/10 - 1
7-44189430-AC-CT c.607_608delinsAG p.V203R Missense 6/10 - 1
7-44189430-AC-GA c.607_608delinsTC p.V203S Missense 6/10 - 1
7-44189430-AC-GG c.607_608delinsCC p.V203P Missense 6/10 - 1
7-44189430-AC-GT c.607_608inv p.V203T Missense 6/10 - 1
7-44189430-AC-TG c.607_608delinsCA p.V203Q Missense 6/10 - 1
7-44189430-AC-TT c.607_608delinsAA p.V203K Missense 6/10 - 1
7-44189430-A-G c.608T>C p.V203A Missense 6/10 - 8
7-44189430-A-T c.608T>A p.V203E Missense 6/10 - 3
7-44189431-C-A c.607G>T p.V203L Missense 6/10 - 1
7-44189431-C-G c.607G>C p.V203L Missense 6/10 - 1
7-44189431-C-T c.607G>A p.V203M Missense 6/10 - 2
7-44189432-C-A c.606G>T p.M202I Missense 6/10 - 1
7-44189432-CA-GC c.605_606delinsGC p.M202S Missense 6/10 - 1
7-44189432-CA-GT c.605_606delinsAC p.M202N Missense 6/10 - 1
7-44189432-CAT-AAA c.604_606delinsTTT p.M202F Missense 6/10 - 1
7-44189432-CAT-ACA c.604_606delinsTGT p.M202C Missense 6/10 - 1
7-44189432-CAT-ATA c.604_606delinsTAT p.M202Y Missense 6/10 - 1
7-44189432-CAT-ATG c.604_606inv p.M202H Missense 6/10 - 1
7-44189432-CAT-GTC c.604_606delinsGAC p.M202D Missense 6/10 - 1
7-44189432-C-G c.606G>C p.M202I Missense 6/10 - 1
7-44189432-C-T c.606G>A p.M202I Missense 6/10 - 1
7-44189433-A-C c.605T>G p.M202R Missense 6/10 - 2
7-44189433-A-G c.605T>C p.M202T Missense 6/10 - 6
7-44189433-A-T c.605T>A p.M202K Missense 6/10 - 1
7-44189433-AT-CA c.604_605delinsTG p.M202W Missense 6/10 - 1
7-44189433-AT-CC c.604_605delinsGG p.M202G Missense 6/10 - 1
7-44189433-AT-GC c.604_605delinsGC p.M202A Missense 6/10 - 1
7-44189433-AT-GG c.604_605delinsCC p.M202P Missense 6/10 - 1
7-44189433-AT-TC c.604_605delinsGA p.M202E Missense 6/10 - 1
7-44189433-AT-TG c.604_605delinsCA p.M202Q Missense 6/10 - 1
7-44189434-T-A c.604A>T p.M202L Missense 6/10 - 1
7-44189434-T-C c.604A>G p.M202V Missense 6/10 - 4
7-44189434-T-G c.604A>C p.M202L Missense 6/10 - 1
7-44189435-TGC-AAA c.601_603delinsTTT p.A201F Missense 6/10 - 1
7-44189435-TGC-ACA c.601_603delinsTGT p.A201C Missense 6/10 - 1
7-44189435-TGC-ATA c.601_603delinsTAT p.A201Y Missense 6/10 - 1
7-44189435-TGC-ATG c.601_603delinsCAT p.A201H Missense 6/10 - 1
7-44189435-TGC-CAT c.601_603delinsATG p.A201M Missense 6/10 - 1
7-44189435-TGC-CCA c.601_603delinsTGG p.A201W Missense 6/10 - 1
7-44189435-TGC-GTT c.601_603delinsAAC p.A201N Missense 6/10 - 1
7-44189435-TG-GT c.602_603delinsAC p.A201D Missense 6/10 - 1
7-44189436-G-A c.602C>T p.A201V Missense 6/10 - 2
7-44189436-G-C c.602C>G p.A201G Missense 6/10 - 1
7-44189436-GC-AG c.601_602delinsCT p.A201L Missense 6/10 - 1
7-44189436-GC-AT c.601_602delinsAT p.A201I Missense 6/10 - 1
7-44189436-GC-CT c.601_602delinsAG p.A201R Missense 6/10 - 1
7-44189436-GC-TG c.601_602delinsCA p.A201Q Missense 6/10 - 1
7-44189436-GC-TT c.601_602delinsAA p.A201K Missense 6/10 - 1
7-44189436-G-T c.602C>A p.A201E Missense 6/10 - 1
7-44189437-C-A c.601G>T p.A201S Missense 6/10 - 4
7-44189437-C-G c.601G>C p.A201P Missense 6/10 - 4
7-44189437-C-T c.601G>A p.A201T Missense 6/10 - 2
7-44189438-CAC-AAA c.598_600delinsTTT p.V200F Missense 6/10 - 1
7-44189438-CAC-ACA c.598_600delinsTGT p.V200C Missense 6/10 - 1
7-44189438-CAC-ATA c.598_600delinsTAT p.V200Y Missense 6/10 - 1
7-44189438-CAC-ATG c.598_600delinsCAT p.V200H Missense 6/10 - 1
7-44189438-CAC-GAT c.598_600delinsATC p.V200I Missense 6/10 - 1
7-44189438-CAC-GTT c.598_600delinsAAC p.V200N Missense 6/10 - 1
7-44189438-CA-GT c.599_600delinsAC p.V200D Missense 6/10 - 1
7-44189438-C-T c.600G>A p.V200= Synonymous 6/10 - 1
7-44189439-A-C c.599T>G p.V200G Missense 6/10 - 1
7-44189439-AC-CA c.598_599delinsTG p.V200W Missense 6/10 - 1
7-44189439-AC-CT c.598_599delinsAG p.V200R Missense 6/10 - 1
7-44189439-AC-GA c.598_599delinsTC p.V200S Missense 6/10 - 1
7-44189439-AC-GG c.598_599delinsCC p.V200P Missense 6/10 - 1
7-44189439-AC-GT c.598_599inv p.V200T Missense 6/10 - 1
7-44189439-AC-TG c.598_599delinsCA p.V200Q Missense 6/10 - 1
7-44189439-AC-TT c.598_599delinsAA p.V200K Missense 6/10 - 1
7-44189439-A-G c.599T>C p.V200A Missense 6/10 - 2
7-44189439-A-T c.599T>A p.V200E Missense 6/10 - 1
7-44189440-C-A c.598G>T p.V200L Missense 6/10 - 3
7-44189440-C-G c.598G>C p.V200L Missense 6/10 - 2
7-44189440-C-T c.598G>A p.V200M Missense 6/10 - 2
7-44189441-CAC-AAA c.595_597delinsTTT p.V199F Missense 6/10 - 1
7-44189441-CAC-ACA c.595_597delinsTGT p.V199C Missense 6/10 - 1
7-44189441-CAC-ATA c.595_597delinsTAT p.V199Y Missense 6/10 - 1
7-44189441-CAC-ATG c.595_597delinsCAT p.V199H Missense 6/10 - 1
7-44189441-CAC-GAT c.595_597delinsATC p.V199I Missense 6/10 - 2
7-44189441-CAC-GTT c.595_597delinsAAC p.V199N Missense 6/10 - 1
7-44189441-CA-GT c.596_597delinsAC p.V199D Missense 6/10 - 1
7-44189442-A-C c.596T>G p.V199G Missense 6/10 - 2
7-44189442-AC-CA c.595_596delinsTG p.V199W Missense 6/10 - 1
7-44189442-AC-CT c.595_596delinsAG p.V199R Missense 6/10 - 1
7-44189442-AC-GA c.595_596delinsTC p.V199S Missense 6/10 - 1
7-44189442-AC-GG c.595_596delinsCC p.V199P Missense 6/10 - 1
7-44189442-AC-GT c.595_596inv p.V199T Missense 6/10 - 1
7-44189442-AC-TG c.595_596delinsCA p.V199Q Missense 6/10 - 1
7-44189442-AC-TT c.595_596delinsAA p.V199K Missense 6/10 - 1
7-44189442-A-G c.596T>C p.V199A Missense 6/10 - 2
7-44189442-A-T c.596T>A p.V199E Missense 6/10 - 1
7-44189443-C-A c.595G>T p.V199L Missense 6/10 - 2
7-44189443-C-G c.595G>C p.V199L Missense 6/10 - 2
7-44189443-C-T c.595G>A p.V199M Missense 6/10 - 3
7-44189444-A-C c.594T>G p.D198E Missense 6/10 - 1
7-44189444-A-T c.594T>A p.D198E Missense 6/10 - 1
7-44189444-ATC-CAT c.592_594delinsATG p.D198M Missense 6/10 - 1
7-44189444-ATC-CCA c.592_594delinsTGG p.D198W Missense 6/10 - 1
7-44189444-ATC-CTT c.592_594delinsAAG p.D198K Missense 6/10 - 1
7-44189444-ATC-TTG c.592_594delinsCAA p.D198Q Missense 6/10 - 1
7-44189445-T-A c.593A>T p.D198V Missense 6/10 - 4
7-44189445-T-C c.593A>G p.D198G Missense 6/10 - 1
7-44189445-TC-AA c.592_593delinsTT p.D198F Missense 6/10 - 1
7-44189445-TC-AG c.592_593delinsCT p.D198L Missense 6/10 - 1
7-44189445-TC-AT c.592_593delinsAT p.D198I Missense 6/10 - 1
7-44189445-TC-CA c.592_593delinsTG p.D198C Missense 6/10 - 1
7-44189445-TC-CG c.592_593delinsCG p.D198R Missense 6/10 - 1
7-44189445-TC-CT c.592_593delinsAG p.D198S Missense 6/10 - 1
7-44189445-TC-GG c.592_593delinsCC p.D198P Missense 6/10 - 1
7-44189445-TC-GT c.592_593delinsAC p.D198T Missense 6/10 - 1
7-44189445-T-G c.593A>C p.D198A Missense 6/10 - 1
7-44189446-C-A c.592G>T p.D198Y Missense 6/10 - 3
7-44189446-C-G c.592G>C p.D198H Missense 6/10 - 1
7-44189446-C-T c.592G>A p.D198N Missense 6/10 - 1
7-44189447-C-A c.591G>T p.M197I Missense 6/10 - 10
7-44189447-CA-GC c.590_591delinsGC p.M197S Missense 6/10 - 1
7-44189447-CA-GT c.590_591delinsAC p.M197N Missense 6/10 - 1
7-44189447-CAT-AAA c.589_591delinsTTT p.M197F Missense 6/10 - 2
7-44189447-CAT-ACA c.589_591delinsTGT p.M197C Missense 6/10 - 1
7-44189447-CAT-ATA c.589_591delinsTAT p.M197Y Missense 6/10 - 1
7-44189447-CAT-ATG c.589_591inv p.M197H Missense 6/10 - 1
7-44189447-CAT-GTC c.589_591delinsGAC p.M197D Missense 6/10 - 2
7-44189447-C-G c.591G>C p.M197I Missense 6/10 - 8
7-44189447-C-T c.591G>A p.M197I Missense 6/10 - 8
7-44189448-A-C c.590T>G p.M197R Missense 6/10 - 1
7-44189448-A-G c.590T>C p.M197T Missense 6/10 - 7
7-44189448-A-T c.590T>A p.M197K Missense 6/10 - 2
7-44189448-AT-CA c.589_590delinsTG p.M197W Missense 6/10 - 1
7-44189448-AT-CC c.589_590delinsGG p.M197G Missense 6/10 - 1
7-44189448-AT-GC c.589_590delinsGC p.M197A Missense 6/10 - 3
7-44189448-AT-GG c.589_590delinsCC p.M197P Missense 6/10 - 1
7-44189448-AT-TC c.589_590delinsGA p.M197E Missense 6/10 - 2
7-44189448-AT-TG c.589_590delinsCA p.M197Q Missense 6/10 - 1
7-44189449-T-A c.589A>T p.M197L Missense 6/10 - 3
7-44189449-T-C c.589A>G p.M197V Missense 6/10 - 7
7-44189449-T-G c.589A>C p.M197L Missense 6/10 - 3
7-44189450-T-A c.588A>T p.E196D Missense 6/10 - 1
7-44189450-T-G c.588A>C p.E196D Missense 6/10 - 1
7-44189450-TTC-AAA c.586_588delinsTTT p.E196F Missense 6/10 - 1
7-44189450-TTC-ACA c.586_588delinsTGT p.E196C Missense 6/10 - 1
7-44189450-TTC-ATA c.586_588delinsTAT p.E196Y Missense 6/10 - 1
7-44189450-TTC-ATG c.586_588delinsCAT p.E196H Missense 6/10 - 1
7-44189450-TTC-CAT c.586_588delinsATG p.E196M Missense 6/10 - 1
7-44189450-TTC-CCA c.586_588delinsTGG p.E196W Missense 6/10 - 1
7-44189450-TTC-GTT c.586_588delinsAAC p.E196N Missense 6/10 - 1
7-44189451-T-A c.587A>T p.E196V Missense 6/10 - 1
7-44189451-T-C c.587A>G p.E196G Missense 6/10 - 4
7-44189451-TC-AG c.586_587delinsCT p.E196L Missense 6/10 - 1
7-44189451-TC-AT c.586_587delinsAT p.E196I Missense 6/10 - 1
7-44189451-TC-CT c.586_587delinsAG p.E196R Missense 6/10 - 1
7-44189451-TC-GA c.586_587inv p.E196S Missense 6/10 - 1
7-44189451-TC-GG c.586_587delinsCC p.E196P Missense 6/10 - 1
7-44189451-TC-GT c.586_587delinsAC p.E196T Missense 6/10 - 1
7-44189451-T-G c.587A>C p.E196A Missense 6/10 - 1
7-44189452-C-G c.586G>C p.E196Q Missense 6/10 - 1
7-44189452-C-T c.586G>A p.E196K Missense 6/10 - 1
7-44189453-AAA-CAT c.583_585delinsATG p.F195M Missense 6/10 - 1
7-44189453-AAA-CTC c.583_585delinsGAG p.F195E Missense 6/10 - 1
7-44189453-AAA-CTT c.583_585delinsAAG p.F195K Missense 6/10 - 1
7-44189453-AAA-TTG c.583_585delinsCAA p.F195Q Missense 6/10 - 1
7-44189453-AA-CC c.584_585delinsGG p.F195W Missense 6/10 - 1
7-44189454-AA-CC c.583_584delinsGG p.F195G Missense 6/10 - 1
7-44189454-AA-CG c.583_584delinsCG p.F195R Missense 6/10 - 1
7-44189454-AA-GC c.583_584delinsGC p.F195A Missense 6/10 - 1
7-44189454-AA-GG c.583_584delinsCC p.F195P Missense 6/10 - 1
7-44189454-AA-GT c.583_584delinsAC p.F195T Missense 6/10 - 1
7-44189454-AA-TC c.583_584delinsGA p.F195D Missense 6/10 - 1
7-44189454-AA-TG c.583_584delinsCA p.F195H Missense 6/10 - 1
7-44189454-AA-TT c.583_584inv p.F195N Missense 6/10 - 1
7-44189454-A-C c.584T>G p.F195C Missense 6/10 - 1
7-44189454-A-G c.584T>C p.F195S Missense 6/10 - 3
7-44189454-A-T c.584T>A p.F195Y Missense 6/10 - 1
7-44189453-A-C c.585T>G p.F195L Missense 6/10 - 1
7-44189453-A-T c.585T>A p.F195L Missense 6/10 - 1
7-44189455-A-C c.583T>G p.F195V Missense 6/10 - 1
7-44189455-A-G c.583T>C p.F195L Missense 6/10 - 1
7-44189455-A-T c.583T>A p.F195I Missense 6/10 - 2
7-44189458-C-T c.580G>A p.D194N Missense 6/10 - 5
7-44189459-C-T c.580-1G>A - IntronicSNV - 5/9 2
7-44189521-T-TG c.579+46dup - IntronicInsertion - 5/9 1
7-44189539-C-A c.579+29G>T - IntronicSNV - 5/9 4
7-44189539-C-G c.579+29G>C - IntronicSNV - 5/9 2
7-44189539-C-T c.579+29G>A - IntronicSNV - 5/9 2
7-44189543-C-T c.579+25G>A - IntronicSNV - 5/9 1
7-44189544-C-T c.579+24G>A - IntronicSNV - 5/9 2
7-44189556-G-C c.579+12C>G - IntronicSNV - 5/9 1
7-44189564-CT-C c.579+4del - IntronicDeletion - 5/9 1
7-44189567-C-T c.579+1G>A - IntronicSNV - 5/9 2
7-44189568-C-A c.579G>T p.G193= Synonymous 5/10 - 5
7-44189568-CCC-AAA c.577_579delinsTTT p.G193F Missense 5/10 - 1
7-44189568-CCC-ACA c.577_579delinsTGT p.G193C Missense 5/10 - 1
7-44189568-CCC-ATA c.577_579delinsTAT p.G193Y Missense 5/10 - 1
7-44189568-CCC-ATG c.577_579delinsCAT p.G193H Missense 5/10 - 1
7-44189568-CCC-GAT c.577_579delinsATC p.G193I Missense 5/10 - 1
7-44189568-CCC-GCT c.577_579delinsAGC p.G193S Missense 5/10 - 2
7-44189568-CCC-GTT c.577_579delinsAAC p.G193N Missense 5/10 - 1
7-44189568-CC-GT c.578_579delinsAC p.G193D Missense 5/10 - 1
7-44189568-C-G c.579G>C p.G193= Synonymous 5/10 - 2
7-44189568-C-T c.579G>A p.G193= Synonymous 5/10 - 2
7-44189569-C-A c.578G>T p.G193V Missense 5/10 - 1
7-44189569-CC-AG c.577_578delinsCT p.G193L Missense 5/10 - 1
7-44189569-CC-AT c.577_578delinsAT p.G193M Missense 5/10 - 1
7-44189569-CC-GG c.577_578inv p.G193P Missense 5/10 - 1
7-44189569-CC-GT c.577_578delinsAC p.G193T Missense 5/10 - 1
7-44189569-CC-TG c.577_578delinsCA p.G193Q Missense 5/10 - 1
7-44189569-CC-TT c.577_578delinsAA p.G193K Missense 5/10 - 1
7-44189569-C-G c.578G>C p.G193A Missense 5/10 - 1
7-44189569-C-T c.578G>A p.G193E Missense 5/10 - 2
7-44189570-C-A c.577G>T p.G193W Missense 5/10 - 4
7-44189570-C-G c.577G>C p.G193R Missense 5/10 - 5
7-44189570-C-T c.577G>A p.G193R Missense 5/10 - 8
7-44189571-T-A c.576A>T p.R192S Missense 5/10 - 4
7-44189571-TC-CA c.575_576delinsTG p.R192M Missense 5/10 - 1
7-44189571-TC-GT c.575_576delinsAC p.R192N Missense 5/10 - 1
7-44189571-TCT-AAA c.574_576delinsTTT p.R192F Missense 5/10 - 1
7-44189571-TCT-ACA c.574_576delinsTGT p.R192C Missense 5/10 - 1
7-44189571-TCT-ATA c.574_576delinsTAT p.R192Y Missense 5/10 - 1
7-44189571-TCT-ATG c.574_576delinsCAT p.R192H Missense 5/10 - 8
7-44189571-TCT-CCA c.574_576delinsTGG p.R192W Missense 5/10 - 4
7-44189571-TCT-GTC c.574_576delinsGAC p.R192D Missense 5/10 - 1
7-44189571-T-G c.576A>C p.R192S Missense 5/10 - 4
7-44189572-C-A c.575G>T p.R192I Missense 5/10 - 1
7-44189572-C-G c.575G>C p.R192T Missense 5/10 - 1
7-44189572-C-T c.575G>A p.R192K Missense 5/10 - 6
7-44189572-CT-AC c.574_575delinsGT p.R192V Missense 5/10 - 1
7-44189572-CT-AG c.574_575inv p.R192L Missense 5/10 - 1
7-44189572-CT-GC c.574_575delinsGC p.R192A Missense 5/10 - 1
7-44189572-CT-GG c.574_575delinsCC p.R192P Missense 5/10 - 1
7-44189572-CT-TC c.574_575delinsGA p.R192E Missense 5/10 - 1
7-44189572-CT-TG c.574_575delinsCA p.R192Q Missense 5/10 - 7
7-44189573-T-A c.574A>T p.R192* Nonsense 5/10 - 1
7-44189573-T-C c.574A>G p.R192G Missense 5/10 - 2
7-44189574-CC-AT c.572_573delinsAT p.R191H Missense 5/10 - 1
7-44189574-CCG-AAA c.571_573delinsTTT p.R191F Missense 5/10 - 1
7-44189574-CCG-ACA c.571_573delinsTGT p.R191C Missense 5/10 - 1
7-44189574-CCG-ATA c.571_573delinsTAT p.R191Y Missense 5/10 - 1
7-44189574-CCG-GAT c.571_573delinsATC p.R191I Missense 5/10 - 1
7-44189574-CCG-GCT c.571_573delinsAGC p.R191S Missense 5/10 - 1
7-44189574-CCG-GTC c.571_573delinsGAC p.R191D Missense 5/10 - 1
7-44189574-CCG-GTT c.571_573delinsAAC p.R191N Missense 5/10 - 1
7-44189574-C-T c.573G>A p.R191= Synonymous 5/10 - 2
7-44189573-TC-T c.573del p.R192Efs*12 Frameshift 5/10 - 1
7-44189575-C-A c.572G>T p.R191L Missense 5/10 - 2
7-44189575-C-G c.572G>C p.R191P Missense 5/10 - 2
7-44189575-CG-AC c.571_572delinsGT p.R191V Missense 5/10 - 1
7-44189575-CG-AT c.571_572delinsAT p.R191M Missense 5/10 - 1
7-44189575-CG-GC c.571_572delinsGC p.R191A Missense 5/10 - 1
7-44189575-CG-GT c.571_572delinsAC p.R191T Missense 5/10 - 1
7-44189575-CG-TA c.571_572delinsTA p.R191* Nonsense 5/10 - 1
7-44189575-CG-TC c.571_572delinsGA p.R191E Missense 5/10 - 2
7-44189575-CG-TT c.571_572delinsAA p.R191K Missense 5/10 - 2
7-44189575-C-T c.572G>A p.R191Q Missense 5/10 - 19
7-44189576-G-A c.571C>T p.R191W Missense 5/10 - 26
7-44189576-G-C c.571C>G p.R191G Missense 5/10 - 2
7-44189576-G-GGATA c.570_571insTATC p.R191Yfs*7 Frameshift 5/10 - 1
7-44189576-G-T c.571C>A p.R191= Synonymous 5/10 - 1
7-44189577-T-A c.570A>T p.K190N Missense 5/10 - 1
7-44189577-T-G c.570A>C p.K190N Missense 5/10 - 1
7-44189577-TT-CA c.569_570delinsTG p.K190M Missense 5/10 - 1
7-44189577-TT-GC c.569_570delinsGC p.K190S Missense 5/10 - 1
7-44189577-TTT-AAA c.568_570inv p.K190F Missense 5/10 - 1
7-44189577-TTT-ACA c.568_570delinsTGT p.K190C Missense 5/10 - 1
7-44189577-TTT-ATA c.568_570delinsTAT p.K190Y Missense 5/10 - 1
7-44189577-TTT-ATG c.568_570delinsCAT p.K190H Missense 5/10 - 1
7-44189577-TTT-CCA c.568_570delinsTGG p.K190W Missense 5/10 - 1
7-44189577-TTT-GTC c.568_570delinsGAC p.K190D Missense 5/10 - 1
7-44189578-T-A c.569A>T p.K190I Missense 5/10 - 1
7-44189578-T-C c.569A>G p.K190R Missense 5/10 - 1
7-44189578-T-G c.569A>C p.K190T Missense 5/10 - 1
7-44189578-TT-AC c.568_569delinsGT p.K190V Missense 5/10 - 1
7-44189578-TT-AG c.568_569delinsCT p.K190L Missense 5/10 - 1
7-44189578-TT-CC c.568_569delinsGG p.K190G Missense 5/10 - 1
7-44189578-TT-GC c.568_569delinsGC p.K190A Missense 5/10 - 1
7-44189578-TT-GG c.568_569delinsCC p.K190P Missense 5/10 - 1
7-44189579-T-C c.568A>G p.K190E Missense 5/10 - 1
7-44189579-T-G c.568A>C p.K190Q Missense 5/10 - 1
7-44189580-G-A c.567C>T p.I189= Synonymous 5/10 - 3
7-44189580-GA-CC c.566_567delinsGG p.I189R Missense 5/10 - 1
7-44189580-GA-CT c.566_567delinsAG p.I189K Missense 5/10 - 1
7-44189580-GAT-CCA c.565_567delinsTGG p.I189W Missense 5/10 - 1
7-44189580-GAT-CTC c.565_567delinsGAG p.I189E Missense 5/10 - 1
7-44189580-GAT-TTG c.565_567delinsCAA p.I189Q Missense 5/10 - 1
7-44189580-G-C c.567C>G p.I189M Missense 5/10 - 2
7-44189581-A-C c.566T>G p.I189S Missense 5/10 - 1
7-44189581-A-G c.566T>C p.I189T Missense 5/10 - 3
7-44189581-A-T c.566T>A p.I189N Missense 5/10 - 1
7-44189581-AT-CA c.565_566delinsTG p.I189C Missense 5/10 - 1
7-44189581-AT-CC c.565_566delinsGG p.I189G Missense 5/10 - 1
7-44189581-AT-GC c.565_566delinsGC p.I189A Missense 5/10 - 1
7-44189581-AT-GG c.565_566delinsCC p.I189P Missense 5/10 - 1
7-44189581-AT-TA c.565_566delinsTA p.I189Y Missense 5/10 - 1
7-44189581-AT-TC c.565_566delinsGA p.I189D Missense 5/10 - 1
7-44189581-AT-TG c.565_566delinsCA p.I189H Missense 5/10 - 1
7-44189582-T-A c.565A>T p.I189F Missense 5/10 - 1
7-44189582-T-C c.565A>G p.I189V Missense 5/10 - 3
7-44189582-T-G c.565A>C p.I189L Missense 5/10 - 1
7-44189583-AGC-CAT c.562_564delinsATG p.A188M Missense 5/10 - 1
7-44189583-AGC-CCA c.562_564delinsTGG p.A188W Missense 5/10 - 1
7-44189583-AGC-CTT c.562_564delinsAAG p.A188K Missense 5/10 - 1
7-44189583-AG-CT c.563_564inv p.A188E Missense 5/10 - 3
7-44189583-AGC-TTG c.562_564delinsCAA p.A188Q Missense 5/10 - 1
7-44189584-G-A c.563C>T p.A188V Missense 5/10 - 7
7-44189584-G-C c.563C>G p.A188G Missense 5/10 - 3
7-44189584-GC-AA c.562_563delinsTT p.A188F Missense 5/10 - 1
7-44189584-GC-AG c.562_563delinsCT p.A188L Missense 5/10 - 1
7-44189584-GC-AT c.562_563delinsAT p.A188I Missense 5/10 - 1
7-44189584-GC-CA c.562_563delinsTG p.A188C Missense 5/10 - 1
7-44189584-GC-CG c.562_563delinsCG p.A188R Missense 5/10 - 1
7-44189584-GC-TA c.562_563delinsTA p.A188Y Missense 5/10 - 1
7-44189584-GC-TG c.562_563delinsCA p.A188H Missense 5/10 - 1
7-44189584-GC-TT c.562_563delinsAA p.A188N Missense 5/10 - 1
7-44189584-G-T c.563C>A p.A188D Missense 5/10 - 2
7-44189585-C-A c.562G>T p.A188S Missense 5/10 - 1
7-44189585-C-G c.562G>C p.A188P Missense 5/10 - 1
7-44189585-C-T c.562G>A p.A188T Missense 5/10 - 18
7-44189586-G-A c.561C>T p.D187= Synonymous 5/10 - 1
7-44189586-G-C c.561C>G p.D187E Missense 5/10 - 2
7-44189586-G-T c.561C>A p.D187E Missense 5/10 - 3
7-44189586-GTC-CAT c.559_561delinsATG p.D187M Missense 5/10 - 1
7-44189586-GTC-CCA c.559_561delinsTGG p.D187W Missense 5/10 - 1
7-44189586-GTC-CTT c.559_561delinsAAG p.D187K Missense 5/10 - 1
7-44189586-GTC-TTG c.559_561delinsCAA p.D187Q Missense 5/10 - 1
7-44189587-T-A c.560A>T p.D187V Missense 5/10 - 2
7-44189587-T-C c.560A>G p.D187G Missense 5/10 - 2
7-44189587-TC-AA c.559_560delinsTT p.D187F Missense 5/10 - 1
7-44189587-TC-AG c.559_560delinsCT p.D187L Missense 5/10 - 1
7-44189587-TC-AT c.559_560delinsAT p.D187I Missense 5/10 - 1
7-44189587-TC-CA c.559_560delinsTG p.D187C Missense 5/10 - 1
7-44189587-TC-CG c.559_560delinsCG p.D187R Missense 5/10 - 1
7-44189587-TC-CT c.559_560delinsAG p.D187S Missense 5/10 - 1
7-44189587-TC-GG c.559_560delinsCC p.D187P Missense 5/10 - 1
7-44189587-TC-GT c.559_560delinsAC p.D187T Missense 5/10 - 1
7-44189587-T-G c.560A>C p.D187A Missense 5/10 - 1
7-44189588-C-A c.559G>T p.D187Y Missense 5/10 - 2
7-44189588-C-G c.559G>C p.D187H Missense 5/10 - 1
7-44189588-C-T c.559G>A p.D187N Missense 5/10 - 1
7-44189589-TC-AT c.557_558delinsAT p.R186H Missense 5/10 - 1
7-44189589-TCG-AAA c.556_558delinsTTT p.R186F Missense 5/10 - 1
7-44189589-TCG-ACA c.556_558delinsTGT p.R186C Missense 5/10 - 1
7-44189589-TCG-ATA c.556_558delinsTAT p.R186Y Missense 5/10 - 1
7-44189589-TCG-CAT c.556_558delinsATG p.R186M Missense 5/10 - 1
7-44189589-TCG-CCA c.556_558delinsTGG p.R186W Missense 5/10 - 1
7-44189589-TCG-GCT c.556_558delinsAGC p.R186S Missense 5/10 - 1
7-44189589-TCG-GTC c.556_558delinsGAC p.R186D Missense 5/10 - 1
7-44189589-TCG-GTT c.556_558delinsAAC p.R186N Missense 5/10 - 1
7-44189590-C-A c.557G>T p.R186L Missense 5/10 - 2
7-44189590-C-G c.557G>C p.R186P Missense 5/10 - 2
7-44189590-CG-AC c.556_557delinsGT p.R186V Missense 5/10 - 1
7-44189590-CG-AT c.556_557delinsAT p.R186I Missense 5/10 - 1
7-44189590-CG-GC c.556_557delinsGC p.R186A Missense 5/10 - 1
7-44189590-CG-GT c.556_557delinsAC p.R186T Missense 5/10 - 1
7-44189590-CG-TC c.556_557delinsGA p.R186E Missense 5/10 - 1
7-44189590-CG-TT c.556_557delinsAA p.R186K Missense 5/10 - 1
7-44189590-C-T c.557G>A p.R186Q Missense 5/10 - 3
7-44189591-G-A c.556C>T p.R186* Nonsense 5/10 - 16
7-44189591-G-C c.556C>G p.R186G Missense 5/10 - 2
7-44189592-CA-AT c.554_555delinsAT p.L185H Missense 5/10 - 1
7-44189592-CAG-AAA c.553_555delinsTTT p.L185F Missense 5/10 - 2
7-44189592-CAG-ACA c.553_555delinsTGT p.L185C Missense 5/10 - 1
7-44189592-CAG-ATA c.553_555delinsTAT p.L185Y Missense 5/10 - 1
7-44189592-CAG-GAT c.553_555delinsATC p.L185I Missense 5/10 - 1
7-44189592-CAG-GTC c.553_555delinsGAC p.L185D Missense 5/10 - 1
7-44189592-CAG-GTT c.553_555delinsAAC p.L185N Missense 5/10 - 1
7-44189593-A-C c.554T>G p.L185R Missense 5/10 - 2
7-44189593-A-G c.554T>C p.L185P Missense 5/10 - 3
7-44189593-AG-CA c.553_554delinsTG p.L185W Missense 5/10 - 1
7-44189593-AG-CC c.553_554delinsGG p.L185G Missense 5/10 - 1
7-44189593-AG-GA c.553_554delinsTC p.L185S Missense 5/10 - 1
7-44189593-AG-GC c.553_554delinsGC p.L185A Missense 5/10 - 1
7-44189593-AG-GT c.553_554delinsAC p.L185T Missense 5/10 - 1
7-44189593-AG-TC c.553_554delinsGA p.L185E Missense 5/10 - 1
7-44189593-AG-TT c.553_554delinsAA p.L185K Missense 5/10 - 1
7-44189593-A-T c.554T>A p.L185Q Missense 5/10 - 2
7-44189592-CAGAAGCCCCACG-C c.543_554del p.V182_L185del InFrameDeletion 5/10 - 1
7-44189594-G-C c.553C>G p.L185V Missense 5/10 - 2
7-44189594-G-T c.553C>A p.L185M Missense 5/10 - 1
7-44189595-AAG-CAT c.550_552delinsATG p.L184M Missense 5/10 - 1
7-44189595-AAG-CCA c.550_552delinsTGG p.L184W Missense 5/10 - 1
7-44189595-AAG-CTC c.550_552delinsGAG p.L184E Missense 5/10 - 1
7-44189595-AAG-CTT c.550_552inv p.L184K Missense 5/10 - 1
7-44189595-AA-TT c.551_552inv p.L184Q Missense 5/10 - 1
7-44189596-A-C c.551T>G p.L184R Missense 5/10 - 1
7-44189596-A-G c.551T>C p.L184P Missense 5/10 - 4
7-44189596-AG-CA c.550_551delinsTG p.L184C Missense 5/10 - 1
7-44189596-AG-CC c.550_551delinsGG p.L184G Missense 5/10 - 1
7-44189596-AG-CT c.550_551inv p.L184S Missense 5/10 - 1
7-44189596-AG-GC c.550_551delinsGC p.L184A Missense 5/10 - 1
7-44189596-AG-GT c.550_551delinsAC p.L184T Missense 5/10 - 1
7-44189596-AG-TA c.550_551delinsTA p.L184Y Missense 5/10 - 1
7-44189596-AG-TC c.550_551delinsGA p.L184D Missense 5/10 - 1
7-44189596-AG-TT c.550_551delinsAA p.L184N Missense 5/10 - 1
7-44189596-A-T c.551T>A p.L184H Missense 5/10 - 1
7-44189597-G-A c.550C>T p.L184F Missense 5/10 - 1
7-44189597-G-C c.550C>G p.L184V Missense 5/10 - 1
7-44189597-G-T c.550C>A p.L184I Missense 5/10 - 1
7-44189598-CCC-AAA c.547_549delinsTTT p.G183F Missense 5/10 - 1
7-44189598-CCC-ACA c.547_549delinsTGT p.G183C Missense 5/10 - 1
7-44189598-CCC-ATA c.547_549delinsTAT p.G183Y Missense 5/10 - 1
7-44189598-CCC-ATG c.547_549delinsCAT p.G183H Missense 5/10 - 1
7-44189598-CCC-GAT c.547_549delinsATC p.G183I Missense 5/10 - 1
7-44189598-CCC-GCT c.547_549delinsAGC p.G183S Missense 5/10 - 1
7-44189598-CCC-GTT c.547_549delinsAAC p.G183N Missense 5/10 - 1
7-44189598-CC-GT c.548_549delinsAC p.G183D Missense 5/10 - 1
7-44189599-C-A c.548G>T p.G183V Missense 5/10 - 1
7-44189599-CC-AG c.547_548delinsCT p.G183L Missense 5/10 - 1
7-44189599-CC-AT c.547_548delinsAT p.G183M Missense 5/10 - 1
7-44189599-CC-GG c.547_548inv p.G183P Missense 5/10 - 1
7-44189599-CC-GT c.547_548delinsAC p.G183T Missense 5/10 - 1
7-44189599-CC-TG c.547_548delinsCA p.G183Q Missense 5/10 - 1
7-44189599-CC-TT c.547_548delinsAA p.G183K Missense 5/10 - 1
7-44189599-C-G c.548G>C p.G183A Missense 5/10 - 1
7-44189599-C-T c.548G>A p.G183E Missense 5/10 - 1
7-44189600-C-A c.547G>T p.G183W Missense 5/10 - 1
7-44189600-C-G c.547G>C p.G183R Missense 5/10 - 1
7-44189600-C-T c.547G>A p.G183R Missense 5/10 - 1
7-44189597-GC-G c.549del p.L184Ffs*20 Frameshift 5/10 - 1
7-44189601-CAC-AAA c.544_546delinsTTT p.V182F Missense 5/10 - 1
7-44189601-CAC-ACA c.544_546delinsTGT p.V182C Missense 5/10 - 1
7-44189601-CAC-ATA c.544_546delinsTAT p.V182Y Missense 5/10 - 1
7-44189601-CAC-ATG c.544_546delinsCAT p.V182H Missense 5/10 - 1
7-44189601-CAC-GAT c.544_546delinsATC p.V182I Missense 5/10 - 1
7-44189601-CAC-GTT c.544_546delinsAAC p.V182N Missense 5/10 - 1
7-44189601-CA-GT c.545_546delinsAC p.V182D Missense 5/10 - 1
7-44189602-A-C c.545T>G p.V182G Missense 5/10 - 2
7-44189602-AC-CA c.544_545delinsTG p.V182W Missense 5/10 - 1
7-44189602-AC-CT c.544_545delinsAG p.V182R Missense 5/10 - 1
7-44189602-AC-GA c.544_545delinsTC p.V182S Missense 5/10 - 1
7-44189602-AC-GG c.544_545delinsCC p.V182P Missense 5/10 - 1
7-44189602-AC-GT c.544_545inv p.V182T Missense 5/10 - 1
7-44189602-AC-TG c.544_545delinsCA p.V182Q Missense 5/10 - 1
7-44189602-AC-TT c.544_545delinsAA p.V182K Missense 5/10 - 1
7-44189602-A-G c.545T>C p.V182A Missense 5/10 - 1
7-44189602-A-T c.545T>A p.V182E Missense 5/10 - 1
7-44189603-C-A c.544G>T p.V182L Missense 5/10 - 4
7-44189603-C-G c.544G>C p.V182L Missense 5/10 - 3
7-44189603-C-T c.544G>A p.V182M Missense 5/10 - 31
7-44189601-CACG-C c.543_545del p.V182del InFrameDeletion 5/10 - 1
7-44189604-G-A c.543C>T p.V181= Synonymous 5/10 - 2
7-44189604-GAC-CAT c.541_543delinsATG p.V181M Missense 5/10 - 1
7-44189604-GAC-CCA c.541_543delinsTGG p.V181W Missense 5/10 - 1
7-44189604-GAC-CTT c.541_543delinsAAG p.V181K Missense 5/10 - 1
7-44189604-GA-CT c.542_543delinsAG p.V181E Missense 5/10 - 1
7-44189604-GAC-TTG c.541_543delinsCAA p.V181Q Missense 5/10 - 1
7-44189604-G-C c.543C>G p.V181= Synonymous 5/10 - 2
7-44189604-G-T c.543C>A p.V181= Synonymous 5/10 - 2
7-44189605-A-C c.542T>G p.V181G Missense 5/10 - 1
7-44189605-AC-CA c.541_542delinsTG p.V181C Missense 5/10 - 1
7-44189605-AC-CG c.541_542delinsCG p.V181R Missense 5/10 - 1
7-44189605-AC-CT c.541_542delinsAG p.V181S Missense 5/10 - 1
7-44189605-AC-GG c.541_542delinsCC p.V181P Missense 5/10 - 1
7-44189605-AC-GT c.541_542inv p.V181T Missense 5/10 - 1
7-44189605-AC-TA c.541_542delinsTA p.V181Y Missense 5/10 - 1
7-44189605-AC-TG c.541_542delinsCA p.V181H Missense 5/10 - 1
7-44189605-AC-TT c.541_542delinsAA p.V181N Missense 5/10 - 1
7-44189605-A-G c.542T>C p.V181A Missense 5/10 - 5
7-44189605-A-T c.542T>A p.V181D Missense 5/10 - 2
7-44189606-C-A c.541G>T p.V181F Missense 5/10 - 1
7-44189606-C-G c.541G>C p.V181L Missense 5/10 - 1
7-44189606-C-T c.541G>A p.V181I Missense 5/10 - 1
7-44189607-A-C c.540T>G p.N180K Missense 5/10 - 6
7-44189607-A-T c.540T>A p.N180K Missense 5/10 - 3
7-44189607-AT-CA c.539_540delinsTG p.N180M Missense 5/10 - 1
7-44189607-AT-CC c.539_540delinsGG p.N180R Missense 5/10 - 1
7-44189607-ATT-CCA c.538_540delinsTGG p.N180W Missense 5/10 - 1
7-44189607-ATT-CTC c.538_540delinsGAG p.N180E Missense 5/10 - 1
7-44189607-ATT-TTG c.538_540delinsCAA p.N180Q Missense 5/10 - 1
7-44189608-T-A c.539A>T p.N180I Missense 5/10 - 1
7-44189608-T-C c.539A>G p.N180S Missense 5/10 - 4
7-44189608-T-G c.539A>C p.N180T Missense 5/10 - 1
7-44189608-TT-AA c.538_539inv p.N180F Missense 5/10 - 1
7-44189608-TT-AC c.538_539delinsGT p.N180V Missense 5/10 - 1
7-44189608-TT-AG c.538_539delinsCT p.N180L Missense 5/10 - 1
7-44189608-TT-CA c.538_539delinsTG p.N180C Missense 5/10 - 1
7-44189608-TT-CC c.538_539delinsGG p.N180G Missense 5/10 - 1
7-44189608-TT-GC c.538_539delinsGC p.N180A Missense 5/10 - 1
7-44189608-TT-GG c.538_539delinsCC p.N180P Missense 5/10 - 1
7-44189609-T-A c.538A>T p.N180Y Missense 5/10 - 1
7-44189609-T-C c.538A>G p.N180D Missense 5/10 - 5
7-44189609-T-G c.538A>C p.N180H Missense 5/10 - 4
7-44189610-G-C c.537C>G p.N179K Missense 5/10 - 1
7-44189610-G-T c.537C>A p.N179K Missense 5/10 - 1
7-44189610-GT-CA c.536_537delinsTG p.N179M Missense 5/10 - 1
7-44189610-GT-CC c.536_537delinsGG p.N179R Missense 5/10 - 1
7-44189610-GTT-CCA c.535_537delinsTGG p.N179W Missense 5/10 - 1
7-44189610-GTT-CTC c.535_537delinsGAG p.N179E Missense 5/10 - 1
7-44189610-GTT-TTG c.535_537delinsCAA p.N179Q Missense 5/10 - 1
7-44189611-T-A c.536A>T p.N179I Missense 5/10 - 1
7-44189611-T-C c.536A>G p.N179S Missense 5/10 - 1
7-44189611-T-G c.536A>C p.N179T Missense 5/10 - 1
7-44189611-TT-AA c.535_536inv p.N179F Missense 5/10 - 1
7-44189611-TT-AC c.535_536delinsGT p.N179V Missense 5/10 - 1
7-44189611-TT-AG c.535_536delinsCT p.N179L Missense 5/10 - 1
7-44189611-TT-CA c.535_536delinsTG p.N179C Missense 5/10 - 1
7-44189611-TT-CC c.535_536delinsGG p.N179G Missense 5/10 - 1
7-44189611-TT-GC c.535_536delinsGC p.N179A Missense 5/10 - 1
7-44189611-TT-GG c.535_536delinsCC p.N179P Missense 5/10 - 1
7-44189612-T-A c.535A>T p.N179Y Missense 5/10 - 1
7-44189612-T-C c.535A>G p.N179D Missense 5/10 - 1
7-44189612-T-G c.535A>C p.N179H Missense 5/10 - 1
7-44189613-C-A c.534G>T p.G178= Synonymous 5/10 - 1
7-44189613-CCC-AAA c.532_534delinsTTT p.G178F Missense 5/10 - 1
7-44189613-CCC-ACA c.532_534delinsTGT p.G178C Missense 5/10 - 1
7-44189613-CCC-ATA c.532_534delinsTAT p.G178Y Missense 5/10 - 1
7-44189613-CCC-ATG c.532_534delinsCAT p.G178H Missense 5/10 - 1
7-44189613-CCC-GAT c.532_534delinsATC p.G178I Missense 5/10 - 1
7-44189613-CCC-GCT c.532_534delinsAGC p.G178S Missense 5/10 - 1
7-44189613-CCC-GTT c.532_534delinsAAC p.G178N Missense 5/10 - 1
7-44189613-CC-GT c.533_534delinsAC p.G178D Missense 5/10 - 1
7-44189613-C-G c.534G>C p.G178= Synonymous 5/10 - 1
7-44189613-C-T c.534G>A p.G178= Synonymous 5/10 - 2
7-44189614-C-A c.533G>T p.G178V Missense 5/10 - 4
7-44189614-CC-AG c.532_533delinsCT p.G178L Missense 5/10 - 1
7-44189614-CC-AT c.532_533delinsAT p.G178M Missense 5/10 - 1
7-44189614-CC-GG c.532_533inv p.G178P Missense 5/10 - 1
7-44189614-CC-GT c.532_533delinsAC p.G178T Missense 5/10 - 1
7-44189614-CC-TG c.532_533delinsCA p.G178Q Missense 5/10 - 1
7-44189614-CC-TT c.532_533delinsAA p.G178K Missense 5/10 - 1
7-44189614-C-G c.533G>C p.G178A Missense 5/10 - 3
7-44189614-C-T c.533G>A p.G178E Missense 5/10 - 12
7-44189615-C-A c.532G>T p.G178W Missense 5/10 - 1
7-44189615-C-G c.532G>C p.G178R Missense 5/10 - 2
7-44189615-C-T c.532G>A p.G178R Missense 5/10 - 6
7-44189616-T-A c.531A>T p.E177D Missense 5/10 - 2
7-44189616-T-G c.531A>C p.E177D Missense 5/10 - 2
7-44189616-TTC-AAA c.529_531delinsTTT p.E177F Missense 5/10 - 1
7-44189616-TTC-ACA c.529_531delinsTGT p.E177C Missense 5/10 - 1
7-44189616-TTC-ATA c.529_531delinsTAT p.E177Y Missense 5/10 - 1
7-44189616-TTC-ATG c.529_531delinsCAT p.E177H Missense 5/10 - 1
7-44189616-TTC-CAT c.529_531delinsATG p.E177M Missense 5/10 - 1
7-44189616-TTC-CCA c.529_531delinsTGG p.E177W Missense 5/10 - 1
7-44189616-TTC-GTT c.529_531delinsAAC p.E177N Missense 5/10 - 1
7-44189617-T-A c.530A>T p.E177V Missense 5/10 - 1
7-44189617-T-C c.530A>G p.E177G Missense 5/10 - 1
7-44189617-TC-AG c.529_530delinsCT p.E177L Missense 5/10 - 1
7-44189617-TC-AT c.529_530delinsAT p.E177I Missense 5/10 - 1
7-44189617-TC-CT c.529_530delinsAG p.E177R Missense 5/10 - 1
7-44189617-TC-GA c.529_530inv p.E177S Missense 5/10 - 1
7-44189617-TC-GG c.529_530delinsCC p.E177P Missense 5/10 - 1
7-44189617-TC-GT c.529_530delinsAC p.E177T Missense 5/10 - 1
7-44189617-T-G c.530A>C p.E177A Missense 5/10 - 1
7-44189618-C-G c.529G>C p.E177Q Missense 5/10 - 1
7-44189618-C-T c.529G>A p.E177K Missense 5/10 - 2
7-44189619-TGC-AAA c.526_528delinsTTT p.A176F Missense 5/10 - 1
7-44189619-TGC-ACA c.526_528delinsTGT p.A176C Missense 5/10 - 1
7-44189619-TGC-ATA c.526_528delinsTAT p.A176Y Missense 5/10 - 1
7-44189619-TGC-ATG c.526_528delinsCAT p.A176H Missense 5/10 - 1
7-44189619-TGC-CAT c.526_528delinsATG p.A176M Missense 5/10 - 1
7-44189619-TGC-CCA c.526_528delinsTGG p.A176W Missense 5/10 - 1
7-44189619-TGC-GTT c.526_528delinsAAC p.A176N Missense 5/10 - 1
7-44189619-TG-GT c.527_528delinsAC p.A176D Missense 5/10 - 1
7-44189620-G-A c.527C>T p.A176V Missense 5/10 - 1
7-44189620-G-C c.527C>G p.A176G Missense 5/10 - 5
7-44189620-GC-AG c.526_527delinsCT p.A176L Missense 5/10 - 1
7-44189620-GC-AT c.526_527delinsAT p.A176I Missense 5/10 - 1
7-44189620-GC-CT c.526_527delinsAG p.A176R Missense 5/10 - 2
7-44189620-GC-TG c.526_527delinsCA p.A176Q Missense 5/10 - 1
7-44189620-GC-TT c.526_527delinsAA p.A176K Missense 5/10 - 1
7-44189620-G-T c.527C>A p.A176E Missense 5/10 - 2
7-44189621-C-A c.526G>T p.A176S Missense 5/10 - 2
7-44189621-C-G c.526G>C p.A176P Missense 5/10 - 3
7-44189621-C-T c.526G>A p.A176T Missense 5/10 - 2
7-44189622-TCC-AAA c.523_525delinsTTT p.G175F Missense 5/10 - 1
7-44189622-TCC-ACA c.523_525delinsTGT p.G175C Missense 5/10 - 1
7-44189622-TCC-ATA c.523_525delinsTAT p.G175Y Missense 5/10 - 1
7-44189622-TCC-ATG c.523_525delinsCAT p.G175H Missense 5/10 - 1
7-44189622-TCC-CAT c.523_525delinsATG p.G175M Missense 5/10 - 1
7-44189622-TCC-CCA c.523_525delinsTGG p.G175W Missense 5/10 - 1
7-44189622-TCC-GCT c.523_525delinsAGC p.G175S Missense 5/10 - 1
7-44189622-TCC-GTT c.523_525delinsAAC p.G175N Missense 5/10 - 1
7-44189622-TC-GT c.524_525delinsAC p.G175D Missense 5/10 - 1
7-44189623-C-A c.524G>T p.G175V Missense 5/10 - 3
7-44189623-CC-AG c.523_524delinsCT p.G175L Missense 5/10 - 1
7-44189623-CC-AT c.523_524delinsAT p.G175I Missense 5/10 - 1
7-44189623-CC-GG c.523_524inv p.G175P Missense 5/10 - 1
7-44189623-CC-GT c.523_524delinsAC p.G175T Missense 5/10 - 1
7-44189623-CC-TG c.523_524delinsCA p.G175Q Missense 5/10 - 1
7-44189623-CC-TT c.523_524delinsAA p.G175K Missense 5/10 - 1
7-44189623-C-G c.524G>C p.G175A Missense 5/10 - 3
7-44189623-C-T c.524G>A p.G175E Missense 5/10 - 3
7-44189624-C-G c.523G>C p.G175R Missense 5/10 - 7
7-44189624-C-T c.523G>A p.G175R Missense 5/10 - 12
7-44189625-TG-AA c.521_522delinsTT p.S174F Missense 5/10 - 1
7-44189625-TGA-ATG c.520_522delinsCAT p.S174H Missense 5/10 - 1
7-44189625-TG-AC c.521_522delinsGT p.S174C Missense 5/10 - 1
7-44189625-TGA-CAT c.520_522delinsATG p.S174M Missense 5/10 - 1
7-44189625-TGA-GTC c.520_522delinsGAC p.S174D Missense 5/10 - 1
7-44189625-TGA-GTT c.520_522delinsAAC p.S174N Missense 5/10 - 1
7-44189625-TG-AT c.521_522delinsAT p.S174Y Missense 5/10 - 1
7-44189625-TG-CC c.521_522delinsGG p.S174W Missense 5/10 - 1
7-44189626-G-A c.521C>T p.S174L Missense 5/10 - 2
7-44189626-GA-AC c.520_521delinsGT p.S174V Missense 5/10 - 1
7-44189626-GA-AT c.520_521delinsAT p.S174I Missense 5/10 - 1
7-44189626-GA-CC c.520_521delinsGG p.S174G Missense 5/10 - 1
7-44189626-GA-CT c.520_521delinsAG p.S174R Missense 5/10 - 1
7-44189626-GA-TC c.520_521inv p.S174E Missense 5/10 - 1
7-44189626-GA-TG c.520_521delinsCA p.S174Q Missense 5/10 - 1
7-44189626-GA-TT c.520_521delinsAA p.S174K Missense 5/10 - 1
7-44189626-G-T c.521C>A p.S174* Nonsense 5/10 - 1
7-44189627-A-C c.520T>G p.S174A Missense 5/10 - 1
7-44189627-A-G c.520T>C p.S174P Missense 5/10 - 1
7-44189627-A-T c.520T>A p.S174T Missense 5/10 - 1
7-44189627-GAGGC-G c.517_520del p.A173Qfs*30 Frameshift 5/10 - 1
7-44189628-G-A c.519C>T p.A173= Synonymous 5/10 - 1
7-44189628-G-C c.519C>G p.A173= Synonymous 5/10 - 1
7-44189628-GGC-CAT c.517_519delinsATG p.A173M Missense 5/10 - 1
7-44189628-GGC-CCA c.517_519delinsTGG p.A173W Missense 5/10 - 1
7-44189628-GGC-CTT c.517_519delinsAAG p.A173K Missense 5/10 - 1
7-44189628-GG-CT c.518_519delinsAG p.A173E Missense 5/10 - 1
7-44189628-GGC-TTG c.517_519delinsCAA p.A173Q Missense 5/10 - 1
7-44189628-G-T c.519C>A p.A173= Synonymous 5/10 - 1
7-44189629-G-A c.518C>T p.A173V Missense 5/10 - 3
7-44189629-G-C c.518C>G p.A173G Missense 5/10 - 1
7-44189629-GC-AA c.517_518delinsTT p.A173F Missense 5/10 - 1
7-44189629-GC-AG c.517_518delinsCT p.A173L Missense 5/10 - 1
7-44189629-GC-AT c.517_518delinsAT p.A173I Missense 5/10 - 1
7-44189629-GC-CA c.517_518delinsTG p.A173C Missense 5/10 - 1
7-44189629-GC-CG c.517_518delinsCG p.A173R Missense 5/10 - 1
7-44189629-GC-TA c.517_518delinsTA p.A173Y Missense 5/10 - 1
7-44189629-GC-TG c.517_518delinsCA p.A173H Missense 5/10 - 1
7-44189629-GC-TT c.517_518delinsAA p.A173N Missense 5/10 - 1
7-44189629-G-T c.518C>A p.A173D Missense 5/10 - 1
7-44189630-C-A c.517G>T p.A173S Missense 5/10 - 3
7-44189630-C-G c.517G>C p.A173P Missense 5/10 - 1
7-44189630-C-T c.517G>A p.A173T Missense 5/10 - 2
7-44189631-C-A c.516G>T p.K172N Missense 5/10 - 1
7-44189631-C-G c.516G>C p.K172N Missense 5/10 - 1
7-44189631-C-T c.516G>A p.K172= Synonymous 5/10 - 1
7-44189631-CT-GA c.515_516delinsTC p.K172I Missense 5/10 - 1
7-44189631-CT-GC c.515_516delinsGC p.K172S Missense 5/10 - 1
7-44189631-CTT-AAA c.514_516delinsTTT p.K172F Missense 5/10 - 1
7-44189631-CTT-ACA c.514_516delinsTGT p.K172C Missense 5/10 - 1
7-44189631-CTT-ATA c.514_516delinsTAT p.K172Y Missense 5/10 - 1
7-44189631-CTT-ATG c.514_516delinsCAT p.K172H Missense 5/10 - 1
7-44189631-CTT-GTC c.514_516delinsGAC p.K172D Missense 5/10 - 1
7-44189632-T-A c.515A>T p.K172M Missense 5/10 - 1
7-44189632-T-C c.515A>G p.K172R Missense 5/10 - 1
7-44189632-T-G c.515A>C p.K172T Missense 5/10 - 1
7-44189632-TT-AC c.514_515delinsGT p.K172V Missense 5/10 - 1
7-44189632-TT-AG c.514_515delinsCT p.K172L Missense 5/10 - 1
7-44189632-TT-CA c.514_515delinsTG p.K172W Missense 5/10 - 1
7-44189632-TT-CC c.514_515delinsGG p.K172G Missense 5/10 - 1
7-44189632-TT-GC c.514_515delinsGC p.K172A Missense 5/10 - 1
7-44189632-TT-GG c.514_515delinsCC p.K172P Missense 5/10 - 1
7-44189633-T-C c.514A>G p.K172E Missense 5/10 - 1
7-44189633-T-G c.514A>C p.K172Q Missense 5/10 - 1
7-44189634-GAA-CAT c.511_513delinsATG p.F171M Missense 5/10 - 1
7-44189634-GAA-CTC c.511_513delinsGAG p.F171E Missense 5/10 - 1
7-44189634-GAA-CTT c.511_513delinsAAG p.F171K Missense 5/10 - 1
7-44189634-GAA-TTG c.511_513delinsCAA p.F171Q Missense 5/10 - 1
7-44189634-GA-CC c.512_513delinsGG p.F171W Missense 5/10 - 1
7-44189635-AA-CC c.511_512delinsGG p.F171G Missense 5/10 - 1
7-44189635-AA-CG c.511_512delinsCG p.F171R Missense 5/10 - 1
7-44189635-AA-GC c.511_512delinsGC p.F171A Missense 5/10 - 1
7-44189635-AA-GG c.511_512delinsCC p.F171P Missense 5/10 - 1
7-44189635-AA-GT c.511_512delinsAC p.F171T Missense 5/10 - 1
7-44189635-AA-TC c.511_512delinsGA p.F171D Missense 5/10 - 1
7-44189635-AA-TG c.511_512delinsCA p.F171H Missense 5/10 - 1
7-44189635-AA-TT c.511_512inv p.F171N Missense 5/10 - 1
7-44189635-A-C c.512T>G p.F171C Missense 5/10 - 2
7-44189635-A-G c.512T>C p.F171S Missense 5/10 - 1
7-44189635-A-T c.512T>A p.F171Y Missense 5/10 - 1
7-44189634-G-C c.513C>G p.F171L Missense 5/10 - 5
7-44189634-G-T c.513C>A p.F171L Missense 5/10 - 5
7-44189636-A-C c.511T>G p.F171V Missense 5/10 - 2
7-44189636-A-G c.511T>C p.F171L Missense 5/10 - 6
7-44189636-A-T c.511T>A p.F171I Missense 5/10 - 1
7-44189637-GCC-CAT c.508_510delinsATG p.G170M Missense 5/10 - 1
7-44189637-GCC-CCA c.508_510delinsTGG p.G170W Missense 5/10 - 1
7-44189637-GCC-CTT c.508_510delinsAAG p.G170K Missense 5/10 - 1
7-44189637-GC-CT c.509_510delinsAG p.G170E Missense 5/10 - 1
7-44189637-GCC-TTG c.508_510delinsCAA p.G170Q Missense 5/10 - 1
7-44189638-C-A c.509G>T p.G170V Missense 5/10 - 5
7-44189638-CC-AA c.508_509delinsTT p.G170F Missense 5/10 - 1
7-44189638-CC-AG c.508_509delinsCT p.G170L Missense 5/10 - 1
7-44189638-CC-AT c.508_509delinsAT p.G170I Missense 5/10 - 1
7-44189638-CC-GG c.508_509inv p.G170P Missense 5/10 - 1
7-44189638-CC-GT c.508_509delinsAC p.G170T Missense 5/10 - 1
7-44189638-CC-TA c.508_509delinsTA p.G170Y Missense 5/10 - 1
7-44189638-CC-TG c.508_509delinsCA p.G170H Missense 5/10 - 1
7-44189638-CC-TT c.508_509delinsAA p.G170N Missense 5/10 - 1
7-44189638-C-G c.509G>C p.G170A Missense 5/10 - 1
7-44189638-C-T c.509G>A p.G170D Missense 5/10 - 3
7-44189639-C-A c.508G>T p.G170C Missense 5/10 - 1
7-44189639-C-G c.508G>C p.G170R Missense 5/10 - 1
7-44189639-C-T c.508G>A p.G170S Missense 5/10 - 8
7-44189640-C-A c.507G>T p.K169N Missense 5/10 - 4
7-44189640-C-G c.507G>C p.K169N Missense 5/10 - 6
7-44189640-CT-GA c.506_507delinsTC p.K169I Missense 5/10 - 1
7-44189640-CT-GC c.506_507delinsGC p.K169S Missense 5/10 - 1
7-44189640-CTT-AAA c.505_507delinsTTT p.K169F Missense 5/10 - 1
7-44189640-CTT-ACA c.505_507delinsTGT p.K169C Missense 5/10 - 1
7-44189640-CTT-ATA c.505_507delinsTAT p.K169Y Missense 5/10 - 1
7-44189640-CTT-ATG c.505_507delinsCAT p.K169H Missense 5/10 - 1
7-44189640-CTT-GTC c.505_507delinsGAC p.K169D Missense 5/10 - 1
7-44189641-T-A c.506A>T p.K169M Missense 5/10 - 1
7-44189641-T-C c.506A>G p.K169R Missense 5/10 - 9
7-44189641-T-G c.506A>C p.K169T Missense 5/10 - 1
7-44189641-TT-AC c.505_506delinsGT p.K169V Missense 5/10 - 1
7-44189641-TT-AG c.505_506delinsCT p.K169L Missense 5/10 - 1
7-44189641-TT-CA c.505_506delinsTG p.K169W Missense 5/10 - 1
7-44189641-TT-CC c.505_506delinsGG p.K169G Missense 5/10 - 1
7-44189641-TT-GC c.505_506delinsGC p.K169A Missense 5/10 - 2
7-44189641-TT-GG c.505_506delinsCC p.K169P Missense 5/10 - 1
7-44189640-CT-C c.506del p.K169Rfs*35 Frameshift 5/10 - 1
7-44189642-T-C c.505A>G p.K169E Missense 5/10 - 4
7-44189642-T-G c.505A>C p.K169Q Missense 5/10 - 2
7-44189643-GG-CA c.503_504delinsTG p.T168M Missense 5/10 - 1
7-44189643-GG-CC c.503_504inv p.T168R Missense 5/10 - 1
7-44189643-GG-CT c.503_504delinsAG p.T168K Missense 5/10 - 1
7-44189643-GGT-CCA c.502_504delinsTGG p.T168W Missense 5/10 - 1
7-44189643-GGT-CTC c.502_504delinsGAG p.T168E Missense 5/10 - 1
7-44189643-GGT-TTG c.502_504delinsCAA p.T168Q Missense 5/10 - 1
7-44189644-G-A c.503C>T p.T168I Missense 5/10 - 3
7-44189644-G-C c.503C>G p.T168S Missense 5/10 - 1
7-44189644-G-T c.503C>A p.T168N Missense 5/10 - 2
7-44189644-GT-AA c.502_503delinsTT p.T168F Missense 5/10 - 1
7-44189644-GT-AC c.502_503inv p.T168V Missense 5/10 - 1
7-44189644-GT-AG c.502_503delinsCT p.T168L Missense 5/10 - 1
7-44189644-GT-CA c.502_503delinsTG p.T168C Missense 5/10 - 1
7-44189644-GT-CC c.502_503delinsGG p.T168G Missense 5/10 - 1
7-44189644-GT-TA c.502_503delinsTA p.T168Y Missense 5/10 - 1
7-44189644-GT-TC c.502_503delinsGA p.T168D Missense 5/10 - 1
7-44189644-GT-TG c.502_503delinsCA p.T168H Missense 5/10 - 1
7-44189645-T-A c.502A>T p.T168S Missense 5/10 - 1
7-44189645-T-C c.502A>G p.T168A Missense 5/10 - 15
7-44189645-T-G c.502A>C p.T168P Missense 5/10 - 6
7-44189646-C-A c.501G>T p.W167C Missense 5/10 - 1
7-44189646-CC-AA c.500_501delinsTT p.W167F Missense 5/10 - 3
7-44189646-CCA-ATG c.499_501delinsCAT p.W167H Missense 5/10 - 1
7-44189646-CCA-GAT c.499_501delinsATC p.W167I Missense 5/10 - 1
7-44189646-CCA-GTC c.499_501delinsGAC p.W167D Missense 5/10 - 1
7-44189646-CCA-GTT c.499_501delinsAAC p.W167N Missense 5/10 - 1
7-44189646-CC-AT c.500_501delinsAT p.W167Y Missense 5/10 - 1
7-44189646-C-G c.501G>C p.W167C Missense 5/10 - 2
7-44189646-C-T c.501G>A p.W167* Nonsense 5/10 - 3
7-44189647-C-A c.500G>T p.W167L Missense 5/10 - 1
7-44189647-CA-AC c.499_500delinsGT p.W167V Missense 5/10 - 1
7-44189647-CA-AT c.499_500delinsAT p.W167M Missense 5/10 - 1
7-44189647-CA-GC c.499_500delinsGC p.W167A Missense 5/10 - 1
7-44189647-CA-GG c.499_500delinsCC p.W167P Missense 5/10 - 1
7-44189647-CA-GT c.499_500delinsAC p.W167T Missense 5/10 - 1
7-44189647-CA-TC c.499_500delinsGA p.W167E Missense 5/10 - 1
7-44189647-CA-TG c.499_500inv p.W167Q Missense 5/10 - 1
7-44189647-CA-TT c.499_500delinsAA p.W167K Missense 5/10 - 1
7-44189647-C-G c.500G>C p.W167S Missense 5/10 - 1
7-44189647-C-T c.500G>A p.W167* Nonsense 5/10 - 5
7-44189648-A-C c.499T>G p.W167G Missense 5/10 - 1
7-44189648-A-G c.499T>C p.W167R Missense 5/10 - 4
7-44189648-A-T c.499T>A p.W167R Missense 5/10 - 2
7-44189649-G-C c.498C>G p.N166K Missense 5/10 - 1
7-44189649-G-T c.498C>A p.N166K Missense 5/10 - 1
7-44189649-GT-CA c.497_498delinsTG p.N166M Missense 5/10 - 1
7-44189649-GT-CC c.497_498delinsGG p.N166R Missense 5/10 - 2
7-44189649-GTT-CCA c.496_498delinsTGG p.N166W Missense 5/10 - 1
7-44189649-GTT-CTC c.496_498delinsGAG p.N166E Missense 5/10 - 1
7-44189649-GTT-TTG c.496_498delinsCAA p.N166Q Missense 5/10 - 1
7-44189650-T-A c.497A>T p.N166I Missense 5/10 - 2
7-44189650-T-C c.497A>G p.N166S Missense 5/10 - 1
7-44189650-T-G c.497A>C p.N166T Missense 5/10 - 1
7-44189650-TT-AA c.496_497inv p.N166F Missense 5/10 - 1
7-44189650-TT-AC c.496_497delinsGT p.N166V Missense 5/10 - 1
7-44189650-TT-AG c.496_497delinsCT p.N166L Missense 5/10 - 1
7-44189650-TT-CA c.496_497delinsTG p.N166C Missense 5/10 - 1
7-44189650-TT-CC c.496_497delinsGG p.N166G Missense 5/10 - 1
7-44189650-TT-GC c.496_497delinsGC p.N166A Missense 5/10 - 1
7-44189650-TT-GG c.496_497delinsCC p.N166P Missense 5/10 - 1
7-44189651-T-A c.496A>T p.N166Y Missense 5/10 - 1
7-44189651-T-C c.496A>G p.N166D Missense 5/10 - 1
7-44189651-T-G c.496A>C p.N166H Missense 5/10 - 1
7-44189652-GAG-CAT c.493_495delinsATG p.L165M Missense 5/10 - 1
7-44189652-GAG-CCA c.493_495delinsTGG p.L165W Missense 5/10 - 1
7-44189652-GAG-CTC c.493_495inv p.L165E Missense 5/10 - 1
7-44189652-GAG-CTT c.493_495delinsAAG p.L165K Missense 5/10 - 1
7-44189652-GA-TT c.494_495delinsAA p.L165Q Missense 5/10 - 1
7-44189653-A-C c.494T>G p.L165R Missense 5/10 - 1
7-44189653-A-G c.494T>C p.L165P Missense 5/10 - 2
7-44189653-AG-CA c.493_494delinsTG p.L165C Missense 5/10 - 1
7-44189653-AG-CC c.493_494delinsGG p.L165G Missense 5/10 - 1
7-44189653-AG-CT c.493_494inv p.L165S Missense 5/10 - 1
7-44189653-AG-GC c.493_494delinsGC p.L165A Missense 5/10 - 1
7-44189653-AG-GT c.493_494delinsAC p.L165T Missense 5/10 - 1
7-44189653-AG-TA c.493_494delinsTA p.L165Y Missense 5/10 - 1
7-44189653-AG-TC c.493_494delinsGA p.L165D Missense 5/10 - 1
7-44189653-AG-TT c.493_494delinsAA p.L165N Missense 5/10 - 1
7-44189653-A-T c.494T>A p.L165H Missense 5/10 - 1
7-44189654-G-A c.493C>T p.L165F Missense 5/10 - 6
7-44189654-G-C c.493C>G p.L165V Missense 5/10 - 1
7-44189654-G-T c.493C>A p.L165I Missense 5/10 - 1
7-44189655-AAG-CAT c.490_492delinsATG p.L164M Missense 5/10 - 1
7-44189655-AAG-CCA c.490_492delinsTGG p.L164W Missense 5/10 - 1
7-44189655-AAG-CTC c.490_492delinsGAG p.L164E Missense 5/10 - 1
7-44189655-AAG-CTT c.490_492inv p.L164K Missense 5/10 - 1
7-44189655-AA-TT c.491_492inv p.L164Q Missense 5/10 - 1
7-44189656-A-C c.491T>G p.L164R Missense 5/10 - 1
7-44189656-A-G c.491T>C p.L164P Missense 5/10 - 7
7-44189656-AG-CA c.490_491delinsTG p.L164C Missense 5/10 - 1
7-44189656-AG-CC c.490_491delinsGG p.L164G Missense 5/10 - 1
7-44189656-AG-CT c.490_491inv p.L164S Missense 5/10 - 1
7-44189656-AG-GC c.490_491delinsGC p.L164A Missense 5/10 - 1
7-44189656-AG-GT c.490_491delinsAC p.L164T Missense 5/10 - 1
7-44189656-AG-TA c.490_491delinsTA p.L164Y Missense 5/10 - 1
7-44189656-AG-TC c.490_491delinsGA p.L164D Missense 5/10 - 1
7-44189656-AG-TT c.490_491delinsAA p.L164N Missense 5/10 - 1
7-44189656-A-T c.491T>A p.L164H Missense 5/10 - 1
7-44189657-G-A c.490C>T p.L164F Missense 5/10 - 5
7-44189657-G-C c.490C>G p.L164V Missense 5/10 - 1
7-44189657-G-T c.490C>A p.L164I Missense 5/10 - 1
7-44189656-AG-A c.490del p.L164Ffs*40 Frameshift 5/10 - 1
7-44189658-GA-CC c.488_489delinsGG p.I163R Missense 5/10 - 1
7-44189658-GA-CT c.488_489delinsAG p.I163K Missense 5/10 - 1
7-44189658-GAT-CCA c.487_489delinsTGG p.I163W Missense 5/10 - 1
7-44189658-GAT-CTC c.487_489delinsGAG p.I163E Missense 5/10 - 1
7-44189658-GAT-TTG c.487_489delinsCAA p.I163Q Missense 5/10 - 1
7-44189658-G-C c.489C>G p.I163M Missense 5/10 - 1
7-44189659-A-C c.488T>G p.I163S Missense 5/10 - 1
7-44189659-A-G c.488T>C p.I163T Missense 5/10 - 1
7-44189659-A-T c.488T>A p.I163N Missense 5/10 - 2
7-44189659-AT-CA c.487_488delinsTG p.I163C Missense 5/10 - 1
7-44189659-AT-CC c.487_488delinsGG p.I163G Missense 5/10 - 1
7-44189659-AT-GC c.487_488delinsGC p.I163A Missense 5/10 - 1
7-44189659-AT-GG c.487_488delinsCC p.I163P Missense 5/10 - 1
7-44189659-AT-TA c.487_488delinsTA p.I163Y Missense 5/10 - 1
7-44189659-AT-TC c.487_488delinsGA p.I163D Missense 5/10 - 1
7-44189659-AT-TG c.487_488delinsCA p.I163H Missense 5/10 - 1
7-44189660-T-A c.487A>T p.I163F Missense 5/10 - 1
7-44189660-T-C c.487A>G p.I163V Missense 5/10 - 1
7-44189660-T-G c.487A>C p.I163L Missense 5/10 - 2
7-44189661-GCC-CAT c.484_486delinsATG p.G162M Missense 5/10 - 1
7-44189661-GCC-CCA c.484_486delinsTGG p.G162W Missense 5/10 - 1
7-44189661-GCC-CTT c.484_486delinsAAG p.G162K Missense 5/10 - 1
7-44189661-GC-CT c.485_486delinsAG p.G162E Missense 5/10 - 1
7-44189661-GCC-TTG c.484_486delinsCAA p.G162Q Missense 5/10 - 1
7-44189662-C-A c.485G>T p.G162V Missense 5/10 - 1
7-44189662-CC-AA c.484_485delinsTT p.G162F Missense 5/10 - 1
7-44189662-CC-AG c.484_485delinsCT p.G162L Missense 5/10 - 1
7-44189662-CC-AT c.484_485delinsAT p.G162I Missense 5/10 - 1
7-44189662-CC-GG c.484_485inv p.G162P Missense 5/10 - 1
7-44189662-CC-GT c.484_485delinsAC p.G162T Missense 5/10 - 1
7-44189662-CC-TA c.484_485delinsTA p.G162Y Missense 5/10 - 1
7-44189662-CC-TG c.484_485delinsCA p.G162H Missense 5/10 - 1
7-44189662-CC-TT c.484_485delinsAA p.G162N Missense 5/10 - 1
7-44189662-C-G c.485G>C p.G162A Missense 5/10 - 1
7-44189662-C-T c.485G>A p.G162D Missense 5/10 - 8
7-44189663-C-A c.484G>T p.G162C Missense 5/10 - 1
7-44189663-C-G c.484G>C p.G162R Missense 5/10 - 1
7-44189663-C-T c.484G>A p.G162S Missense 5/10 - 5
7-44189904-C-CA c.484-242_484-241insT - IntronicInsertion - 4/9 1
7-44190332-T-C c.483+223A>G - IntronicSNV - 4/9 1
7-44190351-C-T c.483+204G>A - IntronicSNV - 4/9 1
7-44190392-A-T c.483+163T>A - IntronicSNV - 4/9 1
7-44190431-G-T c.483+124C>A - IntronicSNV - 4/9 1
7-44190438-A-G c.483+117T>C - IntronicSNV - 4/9 1
7-44190468-T-G c.483+87A>C - IntronicSNV - 4/9 15
7-44190497-T-A c.483+58A>T - IntronicSNV - 4/9 1
7-44190500-C-T c.483+55G>A - IntronicSNV - 4/9 1
7-44190522-C-T c.483+33G>A - IntronicSNV - 4/9 2
7-44190529-G-T c.483+26C>A - IntronicSNV - 4/9 1
7-44190541-T-C c.483+14A>G - IntronicSNV - 4/9 1
7-44190538-CCCTCCACCCGGCCCA-C c.483+2_483+16del - IntronicDeletion 4/10 4/9 2
7-44190547-C-T c.483+8G>A - IntronicSNV - 4/9 1
7-44190551-CCA-C c.483+2_483+3del - SpliceDonorDeletion - 4/9 1
7-44190553-A-G c.483+2T>C - IntronicSNV - 4/9 3
7-44190553-A-T c.483+2T>A - IntronicSNV - 4/9 1
7-44190554-C-T c.483+1G>A - IntronicSNV - 4/9 1
7-44190555-C-A c.483G>T p.K161N Missense 4/10 - 1
7-44190555-C-G c.483G>C p.K161N Missense 4/10 - 1
7-44190555-C-T c.483G>A p.K161= Synonymous 4/10 - 3
7-44190555-CT-GA c.482_483delinsTC p.K161I Missense 4/10 - 1
7-44190555-CT-GC c.482_483delinsGC p.K161S Missense 4/10 - 1
7-44190555-CTT-AAA c.481_483delinsTTT p.K161F Missense 4/10 - 1
7-44190555-CTT-ACA c.481_483delinsTGT p.K161C Missense 4/10 - 1
7-44190555-CTT-ATA c.481_483delinsTAT p.K161Y Missense 4/10 - 1
7-44190555-CTT-ATG c.481_483delinsCAT p.K161H Missense 4/10 - 1
7-44190555-CTT-GTC c.481_483delinsGAC p.K161D Missense 4/10 - 1
7-44190556-T-A c.482A>T p.K161M Missense 4/10 - 1
7-44190556-T-C c.482A>G p.K161R Missense 4/10 - 1
7-44190556-T-G c.482A>C p.K161T Missense 4/10 - 1
7-44190556-TT-AC c.481_482delinsGT p.K161V Missense 4/10 - 1
7-44190556-TT-AG c.481_482delinsCT p.K161L Missense 4/10 - 1
7-44190556-TT-CA c.481_482delinsTG p.K161W Missense 4/10 - 1
7-44190556-TT-CC c.481_482delinsGG p.K161G Missense 4/10 - 1
7-44190556-TT-GC c.481_482delinsGC p.K161A Missense 4/10 - 1
7-44190556-TT-GG c.481_482delinsCC p.K161P Missense 4/10 - 1
7-44190555-CT-C c.482del p.K161Rfs*43 Frameshift 4/10 - 1
7-44190557-T-C c.481A>G p.K161E Missense 4/10 - 1
7-44190557-T-G c.481A>C p.K161Q Missense 4/10 - 1
7-44190558-A-C c.480T>G p.D160E Missense 4/10 - 2
7-44190558-A-T c.480T>A p.D160E Missense 4/10 - 1
7-44190558-ATC-CAT c.478_480delinsATG p.D160M Missense 4/10 - 1
7-44190558-ATC-CCA c.478_480delinsTGG p.D160W Missense 4/10 - 1
7-44190558-ATC-CTT c.478_480delinsAAG p.D160K Missense 4/10 - 1
7-44190558-ATC-TTG c.478_480delinsCAA p.D160Q Missense 4/10 - 1
7-44190559-T-A c.479A>T p.D160V Missense 4/10 - 1
7-44190559-T-C c.479A>G p.D160G Missense 4/10 - 1
7-44190559-TC-AA c.478_479delinsTT p.D160F Missense 4/10 - 1
7-44190559-TC-AG c.478_479delinsCT p.D160L Missense 4/10 - 1
7-44190559-TC-AT c.478_479delinsAT p.D160I Missense 4/10 - 1
7-44190559-TC-CA c.478_479delinsTG p.D160C Missense 4/10 - 1
7-44190559-TC-CG c.478_479delinsCG p.D160R Missense 4/10 - 1
7-44190559-TC-CT c.478_479delinsAG p.D160S Missense 4/10 - 1
7-44190559-TC-GG c.478_479delinsCC p.D160P Missense 4/10 - 1
7-44190559-TC-GT c.478_479delinsAC p.D160T Missense 4/10 - 1
7-44190559-T-G c.479A>C p.D160A Missense 4/10 - 1
7-44190560-C-A c.478G>T p.D160Y Missense 4/10 - 4
7-44190560-C-G c.478G>C p.D160H Missense 4/10 - 3
7-44190560-C-T c.478G>A p.D160N Missense 4/10 - 17
7-44190561-G-A c.477C>T p.I159= Synonymous 4/10 - 2
7-44190561-GA-CC c.476_477delinsGG p.I159R Missense 4/10 - 1
7-44190561-GA-CT c.476_477delinsAG p.I159K Missense 4/10 - 1
7-44190561-GAT-CCA c.475_477delinsTGG p.I159W Missense 4/10 - 1
7-44190561-GAT-CTC c.475_477delinsGAG p.I159E Missense 4/10 - 1
7-44190561-GAT-TTG c.475_477delinsCAA p.I159Q Missense 4/10 - 1
7-44190561-G-C c.477C>G p.I159M Missense 4/10 - 1
7-44190562-A-C c.476T>G p.I159S Missense 4/10 - 1
7-44190562-A-G c.476T>C p.I159T Missense 4/10 - 1
7-44190562-A-T c.476T>A p.I159N Missense 4/10 - 4
7-44190562-AT-CA c.475_476delinsTG p.I159C Missense 4/10 - 1
7-44190562-AT-CC c.475_476delinsGG p.I159G Missense 4/10 - 1
7-44190562-AT-GC c.475_476delinsGC p.I159A Missense 4/10 - 2
7-44190562-AT-GG c.475_476delinsCC p.I159P Missense 4/10 - 1
7-44190562-AT-TA c.475_476delinsTA p.I159Y Missense 4/10 - 1
7-44190562-AT-TC c.475_476delinsGA p.I159D Missense 4/10 - 1
7-44190562-AT-TG c.475_476delinsCA p.I159H Missense 4/10 - 1
7-44190563-T-A c.475A>T p.I159F Missense 4/10 - 1
7-44190563-T-C c.475A>G p.I159V Missense 4/10 - 3
7-44190563-T-G c.475A>C p.I159L Missense 4/10 - 2
7-44190564-G-C c.474C>G p.D158E Missense 4/10 - 1
7-44190564-G-T c.474C>A p.D158E Missense 4/10 - 2
7-44190564-GTC-CAT c.472_474delinsATG p.D158M Missense 4/10 - 1
7-44190564-GTC-CCA c.472_474delinsTGG p.D158W Missense 4/10 - 1
7-44190564-GTC-CTT c.472_474delinsAAG p.D158K Missense 4/10 - 1
7-44190564-GTC-TTG c.472_474delinsCAA p.D158Q Missense 4/10 - 1
7-44190565-T-A c.473A>T p.D158V Missense 4/10 - 1
7-44190565-T-C c.473A>G p.D158G Missense 4/10 - 1
7-44190565-TC-AA c.472_473delinsTT p.D158F Missense 4/10 - 1
7-44190565-TC-AG c.472_473delinsCT p.D158L Missense 4/10 - 1
7-44190565-TC-AT c.472_473delinsAT p.D158I Missense 4/10 - 1
7-44190565-TC-CA c.472_473delinsTG p.D158C Missense 4/10 - 1
7-44190565-TC-CG c.472_473delinsCG p.D158R Missense 4/10 - 1
7-44190565-TC-CT c.472_473delinsAG p.D158S Missense 4/10 - 1
7-44190565-TC-GG c.472_473delinsCC p.D158P Missense 4/10 - 1
7-44190565-TC-GT c.472_473delinsAC p.D158T Missense 4/10 - 1
7-44190565-T-G c.473A>C p.D158A Missense 4/10 - 2
7-44190566-C-A c.472G>T p.D158Y Missense 4/10 - 3
7-44190566-C-G c.472G>C p.D158H Missense 4/10 - 1
7-44190566-C-T c.472G>A p.D158N Missense 4/10 - 1
7-44190567-T-A c.471A>T p.E157D Missense 4/10 - 1
7-44190567-T-G c.471A>C p.E157D Missense 4/10 - 1
7-44190567-TTC-AAA c.469_471delinsTTT p.E157F Missense 4/10 - 1
7-44190567-TTC-ACA c.469_471delinsTGT p.E157C Missense 4/10 - 1
7-44190567-TTC-ATA c.469_471delinsTAT p.E157Y Missense 4/10 - 1
7-44190567-TTC-ATG c.469_471delinsCAT p.E157H Missense 4/10 - 1
7-44190567-TTC-CAT c.469_471delinsATG p.E157M Missense 4/10 - 1
7-44190567-TTC-CCA c.469_471delinsTGG p.E157W Missense 4/10 - 1
7-44190567-TTC-GTT c.469_471delinsAAC p.E157N Missense 4/10 - 1
7-44190568-T-A c.470A>T p.E157V Missense 4/10 - 1
7-44190568-T-C c.470A>G p.E157G Missense 4/10 - 1
7-44190568-TC-AG c.469_470delinsCT p.E157L Missense 4/10 - 2
7-44190568-TC-AT c.469_470delinsAT p.E157I Missense 4/10 - 1
7-44190568-TC-CT c.469_470delinsAG p.E157R Missense 4/10 - 1
7-44190568-TC-GA c.469_470inv p.E157S Missense 4/10 - 1
7-44190568-TC-GG c.469_470delinsCC p.E157P Missense 4/10 - 1
7-44190568-TC-GT c.469_470delinsAC p.E157T Missense 4/10 - 2
7-44190568-T-G c.470A>C p.E157A Missense 4/10 - 1
7-44190569-C-A c.469G>T p.E157* Nonsense 4/10 - 2
7-44190569-C-G c.469G>C p.E157Q Missense 4/10 - 1
7-44190569-C-T c.469G>A p.E157K Missense 4/10 - 11
7-44190570-G-C c.468C>G p.H156Q Missense 4/10 - 1
7-44190570-G-T c.468C>A p.H156Q Missense 4/10 - 1
7-44190570-GTG-CAT c.466_468delinsATG p.H156M Missense 4/10 - 1
7-44190570-GTG-CCA c.466_468delinsTGG p.H156W Missense 4/10 - 1
7-44190570-GTG-CTC c.466_468delinsGAG p.H156E Missense 4/10 - 1
7-44190570-GTG-CTT c.466_468delinsAAG p.H156K Missense 4/10 - 1
7-44190571-T-A c.467A>T p.H156L Missense 4/10 - 1
7-44190571-T-C c.467A>G p.H156R Missense 4/10 - 1
7-44190571-T-G c.467A>C p.H156P Missense 4/10 - 1
7-44190571-TG-AA c.466_467delinsTT p.H156F Missense 4/10 - 1
7-44190571-TG-AC c.466_467delinsGT p.H156V Missense 4/10 - 1
7-44190571-TG-AT c.466_467delinsAT p.H156I Missense 4/10 - 1
7-44190571-TG-CA c.466_467inv p.H156C Missense 4/10 - 1
7-44190571-TG-CC c.466_467delinsGG p.H156G Missense 4/10 - 1
7-44190571-TG-CT c.466_467delinsAG p.H156S Missense 4/10 - 1
7-44190571-TG-GC c.466_467delinsGC p.H156A Missense 4/10 - 1
7-44190571-TG-GT c.466_467delinsAC p.H156T Missense 4/10 - 1
7-44190572-G-A c.466C>T p.H156Y Missense 4/10 - 2
7-44190572-G-C c.466C>G p.H156D Missense 4/10 - 3
7-44190572-G-T c.466C>A p.H156N Missense 4/10 - 1
7-44190573-C-A c.465G>T p.R155S Missense 4/10 - 2
7-44190573-CC-GA c.464_465delinsTC p.R155I Missense 4/10 - 1
7-44190573-CC-GT c.464_465delinsAC p.R155N Missense 4/10 - 1
7-44190573-CCT-AAA c.463_465delinsTTT p.R155F Missense 4/10 - 1
7-44190573-CCT-ACA c.463_465delinsTGT p.R155C Missense 4/10 - 1
7-44190573-CCT-ATA c.463_465delinsTAT p.R155Y Missense 4/10 - 1
7-44190573-CCT-ATG c.463_465delinsCAT p.R155H Missense 4/10 - 2
7-44190573-CCT-GTC c.463_465delinsGAC p.R155D Missense 4/10 - 1
7-44190573-C-G c.465G>C p.R155S Missense 4/10 - 1
7-44190573-C-T c.465G>A p.R155= Synonymous 4/10 - 3
7-44190575-T-G c.463A>C p.R155= Synonymous 4/10 - 1
7-44190574-C-A c.464G>T p.R155M Missense 4/10 - 1
7-44190574-C-G c.464G>C p.R155T Missense 4/10 - 1
7-44190574-C-T c.464G>A p.R155K Missense 4/10 - 1
7-44190574-CT-AC c.463_464delinsGT p.R155V Missense 4/10 - 1
7-44190574-CT-AG c.463_464inv p.R155L Missense 4/10 - 1
7-44190574-CT-GC c.463_464delinsGC p.R155A Missense 4/10 - 1
7-44190574-CT-GG c.463_464delinsCC p.R155P Missense 4/10 - 1
7-44190574-CT-TC c.463_464delinsGA p.R155E Missense 4/10 - 1
7-44190574-CT-TG c.463_464delinsCA p.R155Q Missense 4/10 - 2
7-44190575-T-A c.463A>T p.R155W Missense 4/10 - 1
7-44190575-T-C c.463A>G p.R155G Missense 4/10 - 4
7-44190576-CAC-AAA c.460_462delinsTTT p.V154F Missense 4/10 - 1
7-44190576-CAC-ACA c.460_462delinsTGT p.V154C Missense 4/10 - 1
7-44190576-CAC-ATA c.460_462delinsTAT p.V154Y Missense 4/10 - 1
7-44190576-CAC-ATG c.460_462delinsCAT p.V154H Missense 4/10 - 1
7-44190576-CAC-GAT c.460_462delinsATC p.V154I Missense 4/10 - 1
7-44190576-CAC-GTT c.460_462delinsAAC p.V154N Missense 4/10 - 1
7-44190576-CA-GT c.461_462delinsAC p.V154D Missense 4/10 - 1
7-44190577-A-C c.461T>G p.V154G Missense 4/10 - 1
7-44190577-AC-CA c.460_461delinsTG p.V154W Missense 4/10 - 1
7-44190577-AC-CT c.460_461delinsAG p.V154R Missense 4/10 - 1
7-44190577-AC-GA c.460_461delinsTC p.V154S Missense 4/10 - 1
7-44190577-AC-GG c.460_461delinsCC p.V154P Missense 4/10 - 1
7-44190577-AC-GT c.460_461inv p.V154T Missense 4/10 - 1
7-44190577-AC-TG c.460_461delinsCA p.V154Q Missense 4/10 - 1
7-44190577-AC-TT c.460_461delinsAA p.V154K Missense 4/10 - 1
7-44190577-A-G c.461T>C p.V154A Missense 4/10 - 3
7-44190577-A-T c.461T>A p.V154E Missense 4/10 - 1
7-44190575-TCA-T c.461_462del p.V154Efs*7 Frameshift 4/10 - 1
7-44190578-C-A c.460G>T p.V154L Missense 4/10 - 4
7-44190578-C-G c.460G>C p.V154L Missense 4/10 - 6
7-44190578-C-T c.460G>A p.V154M Missense 4/10 - 2
7-44190579-AGG-CAT c.457_459delinsATG p.P153M Missense 4/10 - 1
7-44190579-AGG-CCA c.457_459delinsTGG p.P153W Missense 4/10 - 1
7-44190579-AGG-CTC c.457_459delinsGAG p.P153E Missense 4/10 - 1
7-44190579-AGG-CTT c.457_459delinsAAG p.P153K Missense 4/10 - 1
7-44190579-AG-TT c.458_459delinsAA p.P153Q Missense 4/10 - 1
7-44190580-G-A c.458C>T p.P153L Missense 4/10 - 1
7-44190580-G-C c.458C>G p.P153R Missense 4/10 - 1
7-44190580-GG-AA c.457_458delinsTT p.P153F Missense 4/10 - 1
7-44190580-GG-AC c.457_458delinsGT p.P153V Missense 4/10 - 1
7-44190580-GG-AT c.457_458delinsAT p.P153I Missense 4/10 - 1
7-44190580-GG-CA c.457_458delinsTG p.P153C Missense 4/10 - 1
7-44190580-GG-CC c.457_458inv p.P153G Missense 4/10 - 1
7-44190580-GG-TA c.457_458delinsTA p.P153Y Missense 4/10 - 1
7-44190580-GG-TC c.457_458delinsGA p.P153D Missense 4/10 - 1
7-44190580-GG-TT c.457_458delinsAA p.P153N Missense 4/10 - 1
7-44190580-G-T c.458C>A p.P153H Missense 4/10 - 4
7-44190581-G-A c.457C>T p.P153S Missense 4/10 - 3
7-44190581-G-C c.457C>G p.P153A Missense 4/10 - 1
7-44190581-G-T c.457C>A p.P153T Missense 4/10 - 1
7-44190582-AAA-CAT c.454_456delinsATG p.F152M Missense 4/10 - 1
7-44190582-AAA-CTC c.454_456delinsGAG p.F152E Missense 4/10 - 1
7-44190582-AAA-CTT c.454_456delinsAAG p.F152K Missense 4/10 - 1
7-44190582-AAA-TTG c.454_456delinsCAA p.F152Q Missense 4/10 - 1
7-44190582-AA-CC c.455_456delinsGG p.F152W Missense 4/10 - 1
7-44190583-AA-CC c.454_455delinsGG p.F152G Missense 4/10 - 1
7-44190583-AA-CG c.454_455delinsCG p.F152R Missense 4/10 - 1
7-44190583-AA-GC c.454_455delinsGC p.F152A Missense 4/10 - 1
7-44190583-AA-GG c.454_455delinsCC p.F152P Missense 4/10 - 1
7-44190583-AA-GT c.454_455delinsAC p.F152T Missense 4/10 - 1
7-44190583-AA-TC c.454_455delinsGA p.F152D Missense 4/10 - 1
7-44190583-AA-TG c.454_455delinsCA p.F152H Missense 4/10 - 1
7-44190583-AA-TT c.454_455inv p.F152N Missense 4/10 - 1
7-44190583-A-C c.455T>G p.F152C Missense 4/10 - 1
7-44190583-A-G c.455T>C p.F152S Missense 4/10 - 1
7-44190583-A-T c.455T>A p.F152Y Missense 4/10 - 1
7-44190582-A-C c.456T>G p.F152L Missense 4/10 - 2
7-44190582-A-T c.456T>A p.F152L Missense 4/10 - 2
7-44190584-A-C c.454T>G p.F152V Missense 4/10 - 1
7-44190584-A-G c.454T>C p.F152L Missense 4/10 - 2
7-44190584-A-T c.454T>A p.F152I Missense 4/10 - 2
7-44190585-GGA-CAT c.451_453delinsATG p.S151M Missense 4/10 - 1
7-44190585-GGA-CTC c.451_453delinsGAG p.S151E Missense 4/10 - 1
7-44190585-GGA-CTT c.451_453delinsAAG p.S151K Missense 4/10 - 1
7-44190585-GGA-TTG c.451_453delinsCAA p.S151Q Missense 4/10 - 1
7-44190585-GG-CC c.452_453inv p.S151W Missense 4/10 - 2
7-44190583-AAGG-A c.452_454del p.S151del InFrameDeletion 4/10 - 4
7-44190586-G-A c.452C>T p.S151F Missense 4/10 - 3
7-44190586-GA-AC c.451_452delinsGT p.S151V Missense 4/10 - 1
7-44190586-GA-AG c.451_452delinsCT p.S151L Missense 4/10 - 1
7-44190586-GA-AT c.451_452delinsAT p.S151I Missense 4/10 - 1
7-44190586-GA-CC c.451_452delinsGG p.S151G Missense 4/10 - 1
7-44190586-GA-CG c.451_452delinsCG p.S151R Missense 4/10 - 1
7-44190586-GA-TC c.451_452inv p.S151D Missense 4/10 - 1
7-44190586-GA-TG c.451_452delinsCA p.S151H Missense 4/10 - 1
7-44190586-GA-TT c.451_452delinsAA p.S151N Missense 4/10 - 1
7-44190586-G-C c.452C>G p.S151C Missense 4/10 - 3
7-44190586-G-T c.452C>A p.S151Y Missense 4/10 - 1
7-44190587-A-C c.451T>G p.S151A Missense 4/10 - 1
7-44190587-A-G c.451T>C p.S151P Missense 4/10 - 4
7-44190587-A-T c.451T>A p.S151T Missense 4/10 - 3
7-44190588-GAA-CAT c.448_450delinsATG p.F150M Missense 4/10 - 1
7-44190588-GAA-CTC c.448_450delinsGAG p.F150E Missense 4/10 - 1
7-44190588-GAA-CTT c.448_450delinsAAG p.F150K Missense 4/10 - 1
7-44190588-GAA-TTG c.448_450delinsCAA p.F150Q Missense 4/10 - 1
7-44190588-GA-CC c.449_450delinsGG p.F150W Missense 4/10 - 1
7-44190586-GAGA-G c.449_451del p.F150del InFrameDeletion 4/10 - 2
7-44190589-AA-CC c.448_449delinsGG p.F150G Missense 4/10 - 1
7-44190589-AA-CG c.448_449delinsCG p.F150R Missense 4/10 - 1
7-44190589-AA-GC c.448_449delinsGC p.F150A Missense 4/10 - 1
7-44190589-AA-GG c.448_449delinsCC p.F150P Missense 4/10 - 1
7-44190589-AA-GT c.448_449delinsAC p.F150T Missense 4/10 - 1
7-44190589-AA-TC c.448_449delinsGA p.F150D Missense 4/10 - 1
7-44190589-AA-TG c.448_449delinsCA p.F150H Missense 4/10 - 1
7-44190589-AA-TT c.448_449inv p.F150N Missense 4/10 - 1
7-44190589-A-C c.449T>G p.F150C Missense 4/10 - 1
7-44190589-A-G c.449T>C p.F150S Missense 4/10 - 12
7-44190589-A-T c.449T>A p.F150Y Missense 4/10 - 6
7-44190588-G-C c.450C>G p.F150L Missense 4/10 - 2
7-44190588-G-T c.450C>A p.F150L Missense 4/10 - 2
7-44190590-A-C c.448T>G p.F150V Missense 4/10 - 1
7-44190590-A-G c.448T>C p.F150L Missense 4/10 - 2
7-44190590-A-T c.448T>A p.F150I Missense 4/10 - 1
7-44190591-GG-CA c.446_447delinsTG p.T149M Missense 4/10 - 1
7-44190591-GG-CC c.446_447inv p.T149R Missense 4/10 - 1
7-44190591-GG-CT c.446_447delinsAG p.T149K Missense 4/10 - 1
7-44190591-GGT-CCA c.445_447delinsTGG p.T149W Missense 4/10 - 1
7-44190591-GGT-CTC c.445_447delinsGAG p.T149E Missense 4/10 - 1
7-44190591-GGT-TTG c.445_447delinsCAA p.T149Q Missense 4/10 - 1
7-44190592-G-A c.446C>T p.T149I Missense 4/10 - 2
7-44190592-G-C c.446C>G p.T149S Missense 4/10 - 1
7-44190592-G-T c.446C>A p.T149N Missense 4/10 - 1
7-44190592-GT-AA c.445_446delinsTT p.T149F Missense 4/10 - 1
7-44190592-GT-AC c.445_446inv p.T149V Missense 4/10 - 1
7-44190592-GT-AG c.445_446delinsCT p.T149L Missense 4/10 - 1
7-44190592-GT-CA c.445_446delinsTG p.T149C Missense 4/10 - 1
7-44190592-GT-CC c.445_446delinsGG p.T149G Missense 4/10 - 1
7-44190592-GT-TA c.445_446delinsTA p.T149Y Missense 4/10 - 1
7-44190592-GT-TC c.445_446delinsGA p.T149D Missense 4/10 - 1
7-44190592-GT-TG c.445_446delinsCA p.T149H Missense 4/10 - 1
7-44190593-T-A c.445A>T p.T149S Missense 4/10 - 1
7-44190593-T-C c.445A>G p.T149A Missense 4/10 - 1
7-44190593-T-G c.445A>C p.T149P Missense 4/10 - 2
7-44190594-G-A c.444C>T p.F148= Synonymous 4/10 - 2
7-44190594-GAA-CAT c.442_444delinsATG p.F148M Missense 4/10 - 1
7-44190594-GAA-CTC c.442_444delinsGAG p.F148E Missense 4/10 - 1
7-44190594-GAA-CTT c.442_444delinsAAG p.F148K Missense 4/10 - 1
7-44190594-GAA-TTG c.442_444delinsCAA p.F148Q Missense 4/10 - 1
7-44190594-GA-CC c.443_444delinsGG p.F148W Missense 4/10 - 1
7-44190595-AA-CC c.442_443delinsGG p.F148G Missense 4/10 - 1
7-44190595-AA-CG c.442_443delinsCG p.F148R Missense 4/10 - 1
7-44190595-AA-GC c.442_443delinsGC p.F148A Missense 4/10 - 1
7-44190595-AA-GG c.442_443delinsCC p.F148P Missense 4/10 - 1
7-44190595-AA-GT c.442_443delinsAC p.F148T Missense 4/10 - 1
7-44190595-AA-TC c.442_443delinsGA p.F148D Missense 4/10 - 1
7-44190595-AA-TG c.442_443delinsCA p.F148H Missense 4/10 - 1
7-44190595-AA-TT c.442_443inv p.F148N Missense 4/10 - 1
7-44190595-A-C c.443T>G p.F148C Missense 4/10 - 1
7-44190595-A-G c.443T>C p.F148S Missense 4/10 - 2
7-44190595-A-T c.443T>A p.F148Y Missense 4/10 - 1
7-44190594-G-C c.444C>G p.F148L Missense 4/10 - 1
7-44190594-G-T c.444C>A p.F148L Missense 4/10 - 1
7-44190596-A-C c.442T>G p.F148V Missense 4/10 - 1
7-44190596-A-G c.442T>C p.F148L Missense 4/10 - 1
7-44190596-A-T c.442T>A p.F148I Missense 4/10 - 3
7-44190597-GCC-CAT c.439_441delinsATG p.G147M Missense 4/10 - 1
7-44190597-GCC-CCA c.439_441delinsTGG p.G147W Missense 4/10 - 1
7-44190597-GCC-CTT c.439_441delinsAAG p.G147K Missense 4/10 - 1
7-44190597-GC-CT c.440_441delinsAG p.G147E Missense 4/10 - 1
7-44190597-GCC-TTG c.439_441delinsCAA p.G147Q Missense 4/10 - 1
7-44190598-C-A c.440G>T p.G147V Missense 4/10 - 1
7-44190598-CC-AA c.439_440delinsTT p.G147F Missense 4/10 - 1
7-44190598-CC-AG c.439_440delinsCT p.G147L Missense 4/10 - 1
7-44190598-CC-AT c.439_440delinsAT p.G147I Missense 4/10 - 1
7-44190598-CC-GG c.439_440inv p.G147P Missense 4/10 - 1
7-44190598-CC-GT c.439_440delinsAC p.G147T Missense 4/10 - 1
7-44190598-CC-TA c.439_440delinsTA p.G147Y Missense 4/10 - 1
7-44190598-CC-TG c.439_440delinsCA p.G147H Missense 4/10 - 1
7-44190598-CC-TT c.439_440delinsAA p.G147N Missense 4/10 - 1
7-44190598-C-G c.440G>C p.G147A Missense 4/10 - 1
7-44190598-C-T c.440G>A p.G147D Missense 4/10 - 6
7-44190599-C-A c.439G>T p.G147C Missense 4/10 - 3
7-44190599-C-G c.439G>C p.G147R Missense 4/10 - 1
7-44190599-C-T c.439G>A p.G147S Missense 4/10 - 1
7-44190600-CA-AT c.437_438delinsAT p.L146H Missense 4/10 - 1
7-44190600-CAG-AAA c.436_438delinsTTT p.L146F Missense 4/10 - 1
7-44190600-CAG-ACA c.436_438delinsTGT p.L146C Missense 4/10 - 1
7-44190600-CAG-ATA c.436_438delinsTAT p.L146Y Missense 4/10 - 1
7-44190600-CAG-GAT c.436_438delinsATC p.L146I Missense 4/10 - 2
7-44190600-CAG-GTC c.436_438delinsGAC p.L146D Missense 4/10 - 1
7-44190600-CAG-GTT c.436_438delinsAAC p.L146N Missense 4/10 - 1
7-44190601-A-C c.437T>G p.L146R Missense 4/10 - 7
7-44190601-A-G c.437T>C p.L146P Missense 4/10 - 7
7-44190601-AG-CA c.436_437delinsTG p.L146W Missense 4/10 - 1
7-44190601-AG-CC c.436_437delinsGG p.L146G Missense 4/10 - 1
7-44190601-AG-GA c.436_437delinsTC p.L146S Missense 4/10 - 1
7-44190601-AG-GC c.436_437delinsGC p.L146A Missense 4/10 - 1
7-44190601-AG-GT c.436_437delinsAC p.L146T Missense 4/10 - 1
7-44190601-AG-TC c.436_437delinsGA p.L146E Missense 4/10 - 1
7-44190601-AG-TT c.436_437delinsAA p.L146K Missense 4/10 - 1
7-44190601-A-T c.437T>A p.L146Q Missense 4/10 - 1
7-44190601-CA-C c.437del p.L146Rfs*9 Frameshift 4/10 - 1
7-44190602-G-C c.436C>G p.L146V Missense 4/10 - 2
7-44190602-G-T c.436C>A p.L146M Missense 4/10 - 1
7-44190603-GGG-CAT c.433_435delinsATG p.P145M Missense 4/10 - 1
7-44190603-GGG-CCA c.433_435delinsTGG p.P145W Missense 4/10 - 1
7-44190603-GGG-CTC c.433_435delinsGAG p.P145E Missense 4/10 - 1
7-44190603-GGG-CTT c.433_435delinsAAG p.P145K Missense 4/10 - 1
7-44190603-GG-TT c.434_435delinsAA p.P145Q Missense 4/10 - 1
7-44190604-G-A c.434C>T p.P145L Missense 4/10 - 3
7-44190604-G-C c.434C>G p.P145R Missense 4/10 - 1
7-44190604-GG-AA c.433_434delinsTT p.P145F Missense 4/10 - 1
7-44190604-GG-AC c.433_434delinsGT p.P145V Missense 4/10 - 1
7-44190604-GG-AT c.433_434delinsAT p.P145I Missense 4/10 - 1
7-44190604-GG-CA c.433_434delinsTG p.P145C Missense 4/10 - 1
7-44190604-GG-CC c.433_434inv p.P145G Missense 4/10 - 1
7-44190604-GG-TA c.433_434delinsTA p.P145Y Missense 4/10 - 1
7-44190604-GG-TC c.433_434delinsGA p.P145D Missense 4/10 - 1
7-44190604-GG-TT c.433_434delinsAA p.P145N Missense 4/10 - 1
7-44190604-G-T c.434C>A p.P145H Missense 4/10 - 1
7-44190605-G-A c.433C>T p.P145S Missense 4/10 - 4
7-44190605-G-C c.433C>G p.P145A Missense 4/10 - 1
7-44190605-G-T c.433C>A p.P145T Missense 4/10 - 1
7-44190606-C-A c.432G>T p.L144= Synonymous 4/10 - 1
7-44190606-CA-AT c.431_432delinsAT p.L144H Missense 4/10 - 1
7-44190606-CAG-AAA c.430_432delinsTTT p.L144F Missense 4/10 - 1
7-44190606-CAG-ACA c.430_432delinsTGT p.L144C Missense 4/10 - 1
7-44190606-CAG-ATA c.430_432delinsTAT p.L144Y Missense 4/10 - 1
7-44190606-CAG-GAT c.430_432delinsATC p.L144I Missense 4/10 - 1
7-44190606-CAG-GTC c.430_432delinsGAC p.L144D Missense 4/10 - 1
7-44190606-CAG-GTT c.430_432delinsAAC p.L144N Missense 4/10 - 1
7-44190606-C-G c.432G>C p.L144= Synonymous 4/10 - 1
7-44190606-C-T c.432G>A p.L144= Synonymous 4/10 - 1
7-44190608-G-A c.430C>T p.L144= Synonymous 4/10 - 1
7-44190604-GGCA-G c.431_433del p.L144del InFrameDeletion 4/10 - 1
7-44190607-A-C c.431T>G p.L144R Missense 4/10 - 1
7-44190607-A-G c.431T>C p.L144P Missense 4/10 - 4
7-44190607-AG-CA c.430_431delinsTG p.L144W Missense 4/10 - 1
7-44190607-AG-CC c.430_431delinsGG p.L144G Missense 4/10 - 1
7-44190607-AG-GA c.430_431delinsTC p.L144S Missense 4/10 - 1
7-44190607-AG-GC c.430_431delinsGC p.L144A Missense 4/10 - 1
7-44190607-AG-GT c.430_431delinsAC p.L144T Missense 4/10 - 1
7-44190607-AG-TC c.430_431delinsGA p.L144E Missense 4/10 - 1
7-44190607-AG-TT c.430_431delinsAA p.L144K Missense 4/10 - 1
7-44190607-A-T c.431T>A p.L144Q Missense 4/10 - 1
7-44190608-G-C c.430C>G p.L144V Missense 4/10 - 1
7-44190608-G-T c.430C>A p.L144M Missense 4/10 - 1
7-44190609-C-A c.429G>T p.K143N Missense 4/10 - 2
7-44190609-C-G c.429G>C p.K143N Missense 4/10 - 1
7-44190609-CT-GA c.428_429delinsTC p.K143I Missense 4/10 - 1
7-44190609-CT-GC c.428_429delinsGC p.K143S Missense 4/10 - 1
7-44190609-CTT-AAA c.427_429delinsTTT p.K143F Missense 4/10 - 1
7-44190609-CTT-ACA c.427_429delinsTGT p.K143C Missense 4/10 - 1
7-44190609-CTT-ATA c.427_429delinsTAT p.K143Y Missense 4/10 - 1
7-44190609-CTT-ATG c.427_429delinsCAT p.K143H Missense 4/10 - 1
7-44190609-CTT-GTC c.427_429delinsGAC p.K143D Missense 4/10 - 1
7-44190610-T-A c.428A>T p.K143M Missense 4/10 - 1
7-44190610-T-C c.428A>G p.K143R Missense 4/10 - 1
7-44190610-T-G c.428A>C p.K143T Missense 4/10 - 1
7-44190610-TT-AC c.427_428delinsGT p.K143V Missense 4/10 - 1
7-44190610-TT-AG c.427_428delinsCT p.K143L Missense 4/10 - 1
7-44190610-TT-CA c.427_428delinsTG p.K143W Missense 4/10 - 1
7-44190610-TT-CC c.427_428delinsGG p.K143G Missense 4/10 - 1
7-44190610-TT-GC c.427_428delinsGC p.K143A Missense 4/10 - 1
7-44190610-TT-GG c.427_428delinsCC p.K143P Missense 4/10 - 1
7-44190611-T-A c.427A>T p.K143* Nonsense 4/10 - 1
7-44190611-T-C c.427A>G p.K143E Missense 4/10 - 1
7-44190611-T-G c.427A>C p.K143Q Missense 4/10 - 1
7-44190608-GCTT-G c.427_429del p.K143del InFrameDeletion 4/10 - 1
7-44190612-C-A c.426G>T p.K142N Missense 4/10 - 1
7-44190612-C-G c.426G>C p.K142N Missense 4/10 - 1
7-44190612-CT-GA c.425_426delinsTC p.K142I Missense 4/10 - 1
7-44190612-CT-GC c.425_426delinsGC p.K142S Missense 4/10 - 1
7-44190612-CTT-AAA c.424_426delinsTTT p.K142F Missense 4/10 - 1
7-44190612-CTT-ACA c.424_426delinsTGT p.K142C Missense 4/10 - 1
7-44190612-CTT-ATA c.424_426delinsTAT p.K142Y Missense 4/10 - 1
7-44190612-CTT-ATG c.424_426delinsCAT p.K142H Missense 4/10 - 1
7-44190612-CTT-GTC c.424_426delinsGAC p.K142D Missense 4/10 - 1
7-44190613-T-A c.425A>T p.K142M Missense 4/10 - 1
7-44190613-T-C c.425A>G p.K142R Missense 4/10 - 1
7-44190613-T-G c.425A>C p.K142T Missense 4/10 - 2
7-44190613-TT-AC c.424_425delinsGT p.K142V Missense 4/10 - 1
7-44190613-TT-AG c.424_425delinsCT p.K142L Missense 4/10 - 1
7-44190613-TT-CA c.424_425delinsTG p.K142W Missense 4/10 - 1
7-44190613-TT-CC c.424_425delinsGG p.K142G Missense 4/10 - 1
7-44190613-TT-GC c.424_425delinsGC p.K142A Missense 4/10 - 1
7-44190613-TT-GG c.424_425delinsCC p.K142P Missense 4/10 - 1
7-44190614-T-A c.424A>T p.K142* Nonsense 4/10 - 1
7-44190614-T-C c.424A>G p.K142E Missense 4/10 - 2
7-44190614-T-G c.424A>C p.K142Q Missense 4/10 - 1
7-44190615-G-C c.423C>G p.H141Q Missense 4/10 - 1
7-44190615-G-T c.423C>A p.H141Q Missense 4/10 - 1
7-44190615-GTG-CAT c.421_423delinsATG p.H141M Missense 4/10 - 1
7-44190615-GTG-CCA c.421_423delinsTGG p.H141W Missense 4/10 - 1
7-44190615-GTG-CTC c.421_423delinsGAG p.H141E Missense 4/10 - 1
7-44190615-GTG-CTT c.421_423delinsAAG p.H141K Missense 4/10 - 1
7-44190615-TG-T c.423del p.H141Qfs*14 Frameshift 4/10 - 1
7-44190616-T-A c.422A>T p.H141L Missense 4/10 - 1
7-44190616-T-C c.422A>G p.H141R Missense 4/10 - 1
7-44190616-T-G c.422A>C p.H141P Missense 4/10 - 2
7-44190616-TG-AA c.421_422delinsTT p.H141F Missense 4/10 - 1
7-44190616-TG-AC c.421_422delinsGT p.H141V Missense 4/10 - 1
7-44190616-TG-AT c.421_422delinsAT p.H141I Missense 4/10 - 1
7-44190616-TG-CA c.421_422inv p.H141C Missense 4/10 - 1
7-44190616-TG-CC c.421_422delinsGG p.H141G Missense 4/10 - 1
7-44190616-TG-CT c.421_422delinsAG p.H141S Missense 4/10 - 1
7-44190616-TG-GC c.421_422delinsGC p.H141A Missense 4/10 - 1
7-44190616-TG-GT c.421_422delinsAC p.H141T Missense 4/10 - 1
7-44190617-G-A c.421C>T p.H141Y Missense 4/10 - 2
7-44190617-G-C c.421C>G p.H141D Missense 4/10 - 1
7-44190617-G-T c.421C>A p.H141N Missense 4/10 - 1
7-44190618-T-A c.420A>T p.K140N Missense 4/10 - 1
7-44190618-T-G c.420A>C p.K140N Missense 4/10 - 1
7-44190618-TT-CA c.419_420delinsTG p.K140M Missense 4/10 - 2
7-44190618-TT-GC c.419_420delinsGC p.K140S Missense 4/10 - 1
7-44190618-TTT-AAA c.418_420inv p.K140F Missense 4/10 - 1
7-44190618-TTT-ACA c.418_420delinsTGT p.K140C Missense 4/10 - 1
7-44190618-TTT-ATA c.418_420delinsTAT p.K140Y Missense 4/10 - 1
7-44190618-TTT-ATG c.418_420delinsCAT p.K140H Missense 4/10 - 1
7-44190618-TTT-CCA c.418_420delinsTGG p.K140W Missense 4/10 - 1
7-44190618-TTT-GTC c.418_420delinsGAC p.K140D Missense 4/10 - 1
7-44190619-T-A c.419A>T p.K140I Missense 4/10 - 1
7-44190619-T-C c.419A>G p.K140R Missense 4/10 - 1
7-44190619-T-G c.419A>C p.K140T Missense 4/10 - 1
7-44190619-TT-AC c.418_419delinsGT p.K140V Missense 4/10 - 1
7-44190619-TT-AG c.418_419delinsCT p.K140L Missense 4/10 - 1
7-44190619-TT-CC c.418_419delinsGG p.K140G Missense 4/10 - 1
7-44190619-TT-GC c.418_419delinsGC p.K140A Missense 4/10 - 1
7-44190619-TT-GG c.418_419delinsCC p.K140P Missense 4/10 - 1
7-44190620-T-C c.418A>G p.K140E Missense 4/10 - 2
7-44190620-T-G c.418A>C p.K140Q Missense 4/10 - 1
7-44190621-C-A c.417G>T p.M139I Missense 4/10 - 2
7-44190621-CA-GC c.416_417delinsGC p.M139S Missense 4/10 - 1
7-44190621-CA-GT c.416_417delinsAC p.M139N Missense 4/10 - 1
7-44190621-CAT-AAA c.415_417delinsTTT p.M139F Missense 4/10 - 1
7-44190621-CAT-ACA c.415_417delinsTGT p.M139C Missense 4/10 - 1
7-44190621-CAT-ATA c.415_417delinsTAT p.M139Y Missense 4/10 - 1
7-44190621-CAT-ATG c.415_417inv p.M139H Missense 4/10 - 1
7-44190621-CAT-GTC c.415_417delinsGAC p.M139D Missense 4/10 - 1
7-44190621-C-G c.417G>C p.M139I Missense 4/10 - 1
7-44190621-C-T c.417G>A p.M139I Missense 4/10 - 1
7-44190622-A-C c.416T>G p.M139R Missense 4/10 - 1
7-44190622-A-G c.416T>C p.M139T Missense 4/10 - 1
7-44190622-A-T c.416T>A p.M139K Missense 4/10 - 1
7-44190622-AT-CA c.415_416delinsTG p.M139W Missense 4/10 - 1
7-44190622-AT-CC c.415_416delinsGG p.M139G Missense 4/10 - 1
7-44190622-AT-GC c.415_416delinsGC p.M139A Missense 4/10 - 1
7-44190622-AT-GG c.415_416delinsCC p.M139P Missense 4/10 - 1
7-44190622-AT-TC c.415_416delinsGA p.M139E Missense 4/10 - 1
7-44190622-AT-TG c.415_416delinsCA p.M139Q Missense 4/10 - 1
7-44190623-T-A c.415A>T p.M139L Missense 4/10 - 2
7-44190623-T-C c.415A>G p.M139V Missense 4/10 - 1
7-44190623-T-G c.415A>C p.M139L Missense 4/10 - 1
7-44190624-C-A c.414G>T p.Q138H Missense 4/10 - 1
7-44190624-C-G c.414G>C p.Q138H Missense 4/10 - 1
7-44190624-CTG-AAA c.412_414delinsTTT p.Q138F Missense 4/10 - 1
7-44190624-CTG-ACA c.412_414delinsTGT p.Q138C Missense 4/10 - 1
7-44190624-CTG-ATA c.412_414delinsTAT p.Q138Y Missense 4/10 - 1
7-44190624-CTG-GAT c.412_414delinsATC p.Q138I Missense 4/10 - 1
7-44190624-CTG-GTC c.412_414delinsGAC p.Q138D Missense 4/10 - 1
7-44190624-CTG-GTT c.412_414delinsAAC p.Q138N Missense 4/10 - 1
7-44190625-T-A c.413A>T p.Q138L Missense 4/10 - 2
7-44190625-T-C c.413A>G p.Q138R Missense 4/10 - 2
7-44190625-T-G c.413A>C p.Q138P Missense 4/10 - 2
7-44190625-TG-AC c.412_413delinsGT p.Q138V Missense 4/10 - 1
7-44190625-TG-AT c.412_413delinsAT p.Q138M Missense 4/10 - 1
7-44190625-TG-CA c.412_413inv p.Q138W Missense 4/10 - 1
7-44190625-TG-CC c.412_413delinsGG p.Q138G Missense 4/10 - 1
7-44190625-TG-GA c.412_413delinsTC p.Q138S Missense 4/10 - 1
7-44190625-TG-GC c.412_413delinsGC p.Q138A Missense 4/10 - 1
7-44190625-TG-GT c.412_413delinsAC p.Q138T Missense 4/10 - 1
7-44190626-G-A c.412C>T p.Q138* Nonsense 4/10 - 1
7-44190626-G-C c.412C>G p.Q138E Missense 4/10 - 1
7-44190626-G-T c.412C>A p.Q138K Missense 4/10 - 1
7-44190627-A-C c.411T>G p.H137Q Missense 4/10 - 1
7-44190627-A-T c.411T>A p.H137Q Missense 4/10 - 1
7-44190627-ATG-CAT c.409_411inv p.H137M Missense 4/10 - 1
7-44190627-ATG-CCA c.409_411delinsTGG p.H137W Missense 4/10 - 1
7-44190627-ATG-CTC c.409_411delinsGAG p.H137E Missense 4/10 - 1
7-44190627-ATG-CTT c.409_411delinsAAG p.H137K Missense 4/10 - 1
7-44190628-T-A c.410A>T p.H137L Missense 4/10 - 1
7-44190628-T-C c.410A>G p.H137R Missense 4/10 - 8
7-44190628-T-G c.410A>C p.H137P Missense 4/10 - 1
7-44190628-TG-AA c.409_410delinsTT p.H137F Missense 4/10 - 1
7-44190628-TG-AC c.409_410delinsGT p.H137V Missense 4/10 - 1
7-44190628-TG-AT c.409_410delinsAT p.H137I Missense 4/10 - 1
7-44190628-TG-CA c.409_410inv p.H137C Missense 4/10 - 1
7-44190628-TG-CC c.409_410delinsGG p.H137G Missense 4/10 - 1
7-44190628-TG-CT c.409_410delinsAG p.H137S Missense 4/10 - 1
7-44190628-TG-GC c.409_410delinsGC p.H137A Missense 4/10 - 1
7-44190628-TG-GT c.409_410delinsAC p.H137T Missense 4/10 - 1
7-44190629-G-A c.409C>T p.H137Y Missense 4/10 - 1
7-44190629-G-C c.409C>G p.H137D Missense 4/10 - 5
7-44190629-G-T c.409C>A p.H137N Missense 4/10 - 1
7-44190630-C-A c.408G>T p.K136N Missense 4/10 - 1
7-44190630-C-G c.408G>C p.K136N Missense 4/10 - 1
7-44190630-CT-GA c.407_408delinsTC p.K136I Missense 4/10 - 1
7-44190630-CT-GC c.407_408delinsGC p.K136S Missense 4/10 - 1
7-44190630-CTT-AAA c.406_408delinsTTT p.K136F Missense 4/10 - 1
7-44190630-CTT-ACA c.406_408delinsTGT p.K136C Missense 4/10 - 1
7-44190630-CTT-ATA c.406_408delinsTAT p.K136Y Missense 4/10 - 1
7-44190630-CTT-ATG c.406_408delinsCAT p.K136H Missense 4/10 - 1
7-44190630-CTT-GTC c.406_408delinsGAC p.K136D Missense 4/10 - 1
7-44190631-T-A c.407A>T p.K136M Missense 4/10 - 1
7-44190631-T-C c.407A>G p.K136R Missense 4/10 - 1
7-44190631-T-G c.407A>C p.K136T Missense 4/10 - 1
7-44190631-TT-AC c.406_407delinsGT p.K136V Missense 4/10 - 1
7-44190631-TT-AG c.406_407delinsCT p.K136L Missense 4/10 - 1
7-44190631-TT-CA c.406_407delinsTG p.K136W Missense 4/10 - 1
7-44190631-TT-CC c.406_407delinsGG p.K136G Missense 4/10 - 1
7-44190631-TT-GC c.406_407delinsGC p.K136A Missense 4/10 - 1
7-44190631-TT-GG c.406_407delinsCC p.K136P Missense 4/10 - 1
7-44190632-T-C c.406A>G p.K136E Missense 4/10 - 2
7-44190632-T-G c.406A>C p.K136Q Missense 4/10 - 2
7-44190633-G-C c.405C>G p.D135E Missense 4/10 - 2
7-44190633-G-T c.405C>A p.D135E Missense 4/10 - 2
7-44190633-GTC-CAT c.403_405delinsATG p.D135M Missense 4/10 - 1
7-44190633-GTC-CCA c.403_405delinsTGG p.D135W Missense 4/10 - 1
7-44190633-GTC-CTT c.403_405delinsAAG p.D135K Missense 4/10 - 1
7-44190633-GTC-TTG c.403_405delinsCAA p.D135Q Missense 4/10 - 1
7-44190634-T-A c.404A>T p.D135V Missense 4/10 - 1
7-44190634-T-C c.404A>G p.D135G Missense 4/10 - 1
7-44190634-TC-AA c.403_404delinsTT p.D135F Missense 4/10 - 1
7-44190634-TC-AG c.403_404delinsCT p.D135L Missense 4/10 - 1
7-44190634-TC-AT c.403_404delinsAT p.D135I Missense 4/10 - 1
7-44190634-TC-CA c.403_404delinsTG p.D135C Missense 4/10 - 1
7-44190634-TC-CG c.403_404delinsCG p.D135R Missense 4/10 - 1
7-44190634-TC-CT c.403_404delinsAG p.D135S Missense 4/10 - 1
7-44190634-TC-GG c.403_404delinsCC p.D135P Missense 4/10 - 1
7-44190634-TC-GT c.403_404delinsAC p.D135T Missense 4/10 - 1
7-44190634-T-G c.404A>C p.D135A Missense 4/10 - 1
7-44190635-C-A c.403G>T p.D135Y Missense 4/10 - 1
7-44190635-C-G c.403G>C p.D135H Missense 4/10 - 1
7-44190635-C-T c.403G>A p.D135N Missense 4/10 - 1
7-44190636-C-A c.402G>T p.L134= Synonymous 4/10 - 1
7-44190636-CA-AT c.401_402delinsAT p.L134H Missense 4/10 - 1
7-44190636-CAG-AAA c.400_402delinsTTT p.L134F Missense 4/10 - 1
7-44190636-CAG-ACA c.400_402delinsTGT p.L134C Missense 4/10 - 1
7-44190636-CAG-ATA c.400_402delinsTAT p.L134Y Missense 4/10 - 1
7-44190636-CAG-GAT c.400_402delinsATC p.L134I Missense 4/10 - 1
7-44190636-CAG-GTC c.400_402delinsGAC p.L134D Missense 4/10 - 1
7-44190636-CAG-GTT c.400_402delinsAAC p.L134N Missense 4/10 - 1
7-44190636-C-G c.402G>C p.L134= Synonymous 4/10 - 1
7-44190636-C-T c.402G>A p.L134= Synonymous 4/10 - 1
7-44190638-G-A c.400C>T p.L134= Synonymous 4/10 - 1
7-44190637-A-C c.401T>G p.L134R Missense 4/10 - 1
7-44190637-A-G c.401T>C p.L134P Missense 4/10 - 3
7-44190637-AG-CA c.400_401delinsTG p.L134W Missense 4/10 - 1
7-44190637-AG-CC c.400_401delinsGG p.L134G Missense 4/10 - 1
7-44190637-AG-GA c.400_401delinsTC p.L134S Missense 4/10 - 1
7-44190637-AG-GC c.400_401delinsGC p.L134A Missense 4/10 - 1
7-44190637-AG-GT c.400_401delinsAC p.L134T Missense 4/10 - 1
7-44190637-AG-TC c.400_401delinsGA p.L134E Missense 4/10 - 1
7-44190637-AG-TT c.400_401delinsAA p.L134K Missense 4/10 - 1
7-44190637-A-T c.401T>A p.L134Q Missense 4/10 - 1
7-44190638-G-C c.400C>G p.L134V Missense 4/10 - 1
7-44190638-G-T c.400C>A p.L134M Missense 4/10 - 1
7-44190639-G-A c.399C>T p.F133= Synonymous 4/10 - 1
7-44190639-GAA-CAT c.397_399delinsATG p.F133M Missense 4/10 - 1
7-44190639-GAA-CTC c.397_399delinsGAG p.F133E Missense 4/10 - 1
7-44190639-GAA-CTT c.397_399delinsAAG p.F133K Missense 4/10 - 1
7-44190639-GAA-TTG c.397_399delinsCAA p.F133Q Missense 4/10 - 1
7-44190639-GA-CC c.398_399delinsGG p.F133W Missense 4/10 - 1
7-44190639-G-GGGAGATGCACTCAGAGATGT c.398_399insACATCTCTGAGTGCATCTCC p.F133Lfs*4 Frameshift 4/10 - 1
7-44190639-G-GAGTCGGAGATGCACTCAGAGATGT c.398_399insACATCTCTGAGTGCATCTCCGACT p.F133delinsLHL* Frameshift 4/10 - 1
7-44190640-AA-CC c.397_398delinsGG p.F133G Missense 4/10 - 1
7-44190640-AA-CG c.397_398delinsCG p.F133R Missense 4/10 - 1
7-44190640-AA-GC c.397_398delinsGC p.F133A Missense 4/10 - 1
7-44190640-AA-GG c.397_398delinsCC p.F133P Missense 4/10 - 1
7-44190640-AA-GT c.397_398delinsAC p.F133T Missense 4/10 - 1
7-44190640-AA-TC c.397_398delinsGA p.F133D Missense 4/10 - 1
7-44190640-AA-TG c.397_398delinsCA p.F133H Missense 4/10 - 1
7-44190640-AA-TT c.397_398inv p.F133N Missense 4/10 - 1
7-44190640-A-C c.398T>G p.F133C Missense 4/10 - 1
7-44190640-A-G c.398T>C p.F133S Missense 4/10 - 1
7-44190640-A-T c.398T>A p.F133Y Missense 4/10 - 1
7-44190639-G-C c.399C>G p.F133L Missense 4/10 - 3
7-44190639-G-T c.399C>A p.F133L Missense 4/10 - 3
7-44190641-A-C c.397T>G p.F133V Missense 4/10 - 1
7-44190641-A-G c.397T>C p.F133L Missense 4/10 - 4
7-44190641-A-T c.397T>A p.F133I Missense 4/10 - 1
7-44190642-G-A c.396C>T p.D132= Synonymous 4/10 - 4
7-44190642-G-C c.396C>G p.D132E Missense 4/10 - 1
7-44190642-G-T c.396C>A p.D132E Missense 4/10 - 2
7-44190642-GTC-CAT c.394_396delinsATG p.D132M Missense 4/10 - 1
7-44190642-GTC-CCA c.394_396delinsTGG p.D132W Missense 4/10 - 1
7-44190642-GTC-CTT c.394_396delinsAAG p.D132K Missense 4/10 - 1
7-44190642-GTC-TTG c.394_396delinsCAA p.D132Q Missense 4/10 - 1
7-44190643-T-A c.395A>T p.D132V Missense 4/10 - 1
7-44190643-T-C c.395A>G p.D132G Missense 4/10 - 1
7-44190643-TC-AA c.394_395delinsTT p.D132F Missense 4/10 - 1
7-44190643-TC-AG c.394_395delinsCT p.D132L Missense 4/10 - 1
7-44190643-TC-AT c.394_395delinsAT p.D132I Missense 4/10 - 1
7-44190643-TC-CA c.394_395delinsTG p.D132C Missense 4/10 - 1
7-44190643-TC-CG c.394_395delinsCG p.D132R Missense 4/10 - 1
7-44190643-TC-CT c.394_395delinsAG p.D132S Missense 4/10 - 1
7-44190643-TC-GG c.394_395delinsCC p.D132P Missense 4/10 - 1
7-44190643-TC-GT c.394_395delinsAC p.D132T Missense 4/10 - 1
7-44190643-T-G c.395A>C p.D132A Missense 4/10 - 2
7-44190644-C-A c.394G>T p.D132Y Missense 4/10 - 1
7-44190644-C-G c.394G>C p.D132H Missense 4/10 - 1
7-44190644-C-T c.394G>A p.D132N Missense 4/10 - 5
7-44190645-GGA-CAT c.391_393delinsATG p.S131M Missense 4/10 - 1
7-44190645-GGA-CTC c.391_393delinsGAG p.S131E Missense 4/10 - 1
7-44190645-GGA-CTT c.391_393delinsAAG p.S131K Missense 4/10 - 1
7-44190645-GGA-TTG c.391_393delinsCAA p.S131Q Missense 4/10 - 1
7-44190645-GG-CC c.392_393inv p.S131W Missense 4/10 - 1
7-44190644-CG-C c.393del p.D132Tfs*8 Frameshift 4/10 - 1
7-44190646-G-A c.392C>T p.S131F Missense 4/10 - 1
7-44190646-GA-AC c.391_392delinsGT p.S131V Missense 4/10 - 1
7-44190646-GA-AG c.391_392delinsCT p.S131L Missense 4/10 - 1
7-44190646-GA-AT c.391_392delinsAT p.S131I Missense 4/10 - 1
7-44190646-GA-CC c.391_392delinsGG p.S131G Missense 4/10 - 1
7-44190646-GA-CG c.391_392delinsCG p.S131R Missense 4/10 - 1
7-44190646-GA-TC c.391_392inv p.S131D Missense 4/10 - 1
7-44190646-GA-TG c.391_392delinsCA p.S131H Missense 4/10 - 1
7-44190646-GA-TT c.391_392delinsAA p.S131N Missense 4/10 - 1
7-44190646-G-C c.392C>G p.S131C Missense 4/10 - 1
7-44190646-G-T c.392C>A p.S131Y Missense 4/10 - 1
7-44190647-A-C c.391T>G p.S131A Missense 4/10 - 1
7-44190647-A-G c.391T>C p.S131P Missense 4/10 - 14
7-44190647-A-T c.391T>A p.S131T Missense 4/10 - 1
7-44190648-GA-CC c.389_390delinsGG p.I130R Missense 4/10 - 1
7-44190648-GA-CT c.389_390delinsAG p.I130K Missense 4/10 - 1
7-44190648-GAT-CCA c.388_390delinsTGG p.I130W Missense 4/10 - 1
7-44190648-GAT-CTC c.388_390delinsGAG p.I130E Missense 4/10 - 1
7-44190648-GAT-TTG c.388_390delinsCAA p.I130Q Missense 4/10 - 1
7-44190648-G-C c.390C>G p.I130M Missense 4/10 - 1
7-44190649-A-C c.389T>G p.I130S Missense 4/10 - 1
7-44190649-A-G c.389T>C p.I130T Missense 4/10 - 7
7-44190649-A-T c.389T>A p.I130N Missense 4/10 - 2
7-44190649-AT-CA c.388_389delinsTG p.I130C Missense 4/10 - 1
7-44190649-AT-CC c.388_389delinsGG p.I130G Missense 4/10 - 1
7-44190649-AT-GC c.388_389delinsGC p.I130A Missense 4/10 - 1
7-44190649-AT-GG c.388_389delinsCC p.I130P Missense 4/10 - 1
7-44190649-AT-TA c.388_389delinsTA p.I130Y Missense 4/10 - 1
7-44190649-AT-TC c.388_389delinsGA p.I130D Missense 4/10 - 1
7-44190649-AT-TG c.388_389delinsCA p.I130H Missense 4/10 - 1
7-44190650-T-A c.388A>T p.I130F Missense 4/10 - 1
7-44190650-T-C c.388A>G p.I130V Missense 4/10 - 1
7-44190650-T-G c.388A>C p.I130L Missense 4/10 - 1
7-44190651-G-A c.387C>T p.C129= Synonymous 4/10 - 1
7-44190651-G-C c.387C>G p.C129W Missense 4/10 - 1
7-44190651-GCA-CAT c.385_387delinsATG p.C129M Missense 4/10 - 1
7-44190651-GCA-CTC c.385_387delinsGAG p.C129E Missense 4/10 - 1
7-44190651-GCA-CTT c.385_387delinsAAG p.C129K Missense 4/10 - 1
7-44190651-GCA-TTG c.385_387delinsCAA p.C129Q Missense 4/10 - 1
7-44190651-G-T c.387C>A p.C129* Nonsense 4/10 - 2
7-44190652-C-A c.386G>T p.C129F Missense 4/10 - 4
7-44190652-CA-AC c.385_386delinsGT p.C129V Missense 4/10 - 1
7-44190652-CA-AG c.385_386delinsCT p.C129L Missense 4/10 - 1
7-44190652-CA-AT c.385_386delinsAT p.C129I Missense 4/10 - 1
7-44190652-CA-GC c.385_386delinsGC p.C129A Missense 4/10 - 1
7-44190652-CA-GG c.385_386delinsCC p.C129P Missense 4/10 - 1
7-44190652-CA-GT c.385_386delinsAC p.C129T Missense 4/10 - 1
7-44190652-CA-TC c.385_386delinsGA p.C129D Missense 4/10 - 1
7-44190652-CA-TG c.385_386inv p.C129H Missense 4/10 - 1
7-44190652-CA-TT c.385_386delinsAA p.C129N Missense 4/10 - 1
7-44190652-C-T c.386G>A p.C129Y Missense 4/10 - 5
7-44190652-C-G c.386G>C p.C129S Missense 4/10 - 1
7-44190653-A-C c.385T>G p.C129G Missense 4/10 - 1
7-44190653-A-G c.385T>C p.C129R Missense 4/10 - 3
7-44190653-A-T c.385T>A p.C129S Missense 4/10 - 1
7-44190654-C-A c.384G>T p.E128D Missense 4/10 - 1
7-44190654-C-G c.384G>C p.E128D Missense 4/10 - 1
7-44190654-CTC-AAA c.382_384delinsTTT p.E128F Missense 4/10 - 1
7-44190654-CTC-ACA c.382_384delinsTGT p.E128C Missense 4/10 - 1
7-44190654-CTC-ATA c.382_384delinsTAT p.E128Y Missense 4/10 - 1
7-44190654-CTC-ATG c.382_384delinsCAT p.E128H Missense 4/10 - 1
7-44190654-CTC-GAT c.382_384delinsATC p.E128I Missense 4/10 - 1
7-44190654-CTC-GTT c.382_384delinsAAC p.E128N Missense 4/10 - 1
7-44190655-T-A c.383A>T p.E128V Missense 4/10 - 1
7-44190655-T-C c.383A>G p.E128G Missense 4/10 - 1
7-44190655-TC-AG c.382_383delinsCT p.E128L Missense 4/10 - 1
7-44190655-TC-AT c.382_383delinsAT p.E128M Missense 4/10 - 1
7-44190655-TC-CA c.382_383delinsTG p.E128W Missense 4/10 - 1
7-44190655-TC-CT c.382_383delinsAG p.E128R Missense 4/10 - 1
7-44190655-TC-GA c.382_383inv p.E128S Missense 4/10 - 1
7-44190655-TC-GG c.382_383delinsCC p.E128P Missense 4/10 - 1
7-44190655-TC-GT c.382_383delinsAC p.E128T Missense 4/10 - 1
7-44190655-T-G c.383A>C p.E128A Missense 4/10 - 1
7-44190656-C-G c.382G>C p.E128Q Missense 4/10 - 1
7-44190656-C-T c.382G>A p.E128K Missense 4/10 - 1
7-44190657-AGA-CAT c.379_381delinsATG p.S127M Missense 4/10 - 1
7-44190657-AGA-CTC c.379_381delinsGAG p.S127E Missense 4/10 - 1
7-44190657-AGA-CTT c.379_381delinsAAG p.S127K Missense 4/10 - 1
7-44190657-AGA-TTG c.379_381delinsCAA p.S127Q Missense 4/10 - 1
7-44190657-AG-CC c.380_381delinsGG p.S127W Missense 4/10 - 1
7-44190658-G-A c.380C>T p.S127F Missense 4/10 - 3
7-44190658-GA-AC c.379_380delinsGT p.S127V Missense 4/10 - 1
7-44190658-GA-AG c.379_380delinsCT p.S127L Missense 4/10 - 1
7-44190658-GA-AT c.379_380delinsAT p.S127I Missense 4/10 - 1
7-44190658-GA-CC c.379_380delinsGG p.S127G Missense 4/10 - 1
7-44190658-GA-CG c.379_380delinsCG p.S127R Missense 4/10 - 1
7-44190658-GA-TC c.379_380inv p.S127D Missense 4/10 - 1
7-44190658-GA-TG c.379_380delinsCA p.S127H Missense 4/10 - 1
7-44190658-GA-TT c.379_380delinsAA p.S127N Missense 4/10 - 1
7-44190658-G-C c.380C>G p.S127C Missense 4/10 - 1
7-44190658-G-T c.380C>A p.S127Y Missense 4/10 - 1
7-44190659-A-C c.379T>G p.S127A Missense 4/10 - 1
7-44190659-A-G c.379T>C p.S127P Missense 4/10 - 2
7-44190659-A-T c.379T>A p.S127T Missense 4/10 - 1
7-44190660-GA-CC c.377_378delinsGG p.I126R Missense 4/10 - 1
7-44190660-GA-CT c.377_378delinsAG p.I126K Missense 4/10 - 1
7-44190660-GAT-CCA c.376_378delinsTGG p.I126W Missense 4/10 - 1
7-44190660-GAT-CTC c.376_378delinsGAG p.I126E Missense 4/10 - 1
7-44190660-GAT-TTG c.376_378delinsCAA p.I126Q Missense 4/10 - 1
7-44190660-G-C c.378C>G p.I126M Missense 4/10 - 2
7-44190661-A-C c.377T>G p.I126S Missense 4/10 - 1
7-44190661-A-G c.377T>C p.I126T Missense 4/10 - 1
7-44190661-A-T c.377T>A p.I126N Missense 4/10 - 1
7-44190661-AT-CA c.376_377delinsTG p.I126C Missense 4/10 - 1
7-44190661-AT-CC c.376_377delinsGG p.I126G Missense 4/10 - 1
7-44190661-AT-GC c.376_377delinsGC p.I126A Missense 4/10 - 1
7-44190661-AT-GG c.376_377delinsCC p.I126P Missense 4/10 - 1
7-44190661-AT-TA c.376_377delinsTA p.I126Y Missense 4/10 - 1
7-44190661-AT-TC c.376_377delinsGA p.I126D Missense 4/10 - 1
7-44190661-AT-TG c.376_377delinsCA p.I126H Missense 4/10 - 1
7-44190662-T-A c.376A>T p.I126F Missense 4/10 - 1
7-44190662-T-C c.376A>G p.I126V Missense 4/10 - 1
7-44190662-T-G c.376A>C p.I126L Missense 4/10 - 1
7-44190663-GTA-CAT c.373_375delinsATG p.Y125M Missense 4/10 - 1
7-44190663-GTA-CTC c.373_375delinsGAG p.Y125E Missense 4/10 - 1
7-44190663-GTA-CTT c.373_375delinsAAG p.Y125K Missense 4/10 - 1
7-44190663-GTA-TTG c.373_375delinsCAA p.Y125Q Missense 4/10 - 1
7-44190663-GT-CC c.374_375delinsGG p.Y125W Missense 4/10 - 1
7-44190664-T-A c.374A>T p.Y125F Missense 4/10 - 1
7-44190664-TA-AC c.373_374delinsGT p.Y125V Missense 4/10 - 1
7-44190664-TA-AG c.373_374delinsCT p.Y125L Missense 4/10 - 1
7-44190664-TA-AT c.373_374delinsAT p.Y125I Missense 4/10 - 1
7-44190664-TA-CC c.373_374delinsGG p.Y125G Missense 4/10 - 1
7-44190664-TA-CG c.373_374delinsCG p.Y125R Missense 4/10 - 1
7-44190664-TA-GC c.373_374delinsGC p.Y125A Missense 4/10 - 1
7-44190664-TA-GG c.373_374delinsCC p.Y125P Missense 4/10 - 1
7-44190664-TA-GT c.373_374delinsAC p.Y125T Missense 4/10 - 1
7-44190664-T-C c.374A>G p.Y125C Missense 4/10 - 3
7-44190664-T-G c.374A>C p.Y125S Missense 4/10 - 1
7-44190665-A-C c.373T>G p.Y125D Missense 4/10 - 1
7-44190665-A-G c.373T>C p.Y125H Missense 4/10 - 1
7-44190665-A-T c.373T>A p.Y125N Missense 4/10 - 1
7-44190666-G-A c.372C>T p.D124= Synonymous 4/10 - 1
7-44190666-G-C c.372C>G p.D124E Missense 4/10 - 1
7-44190666-G-T c.372C>A p.D124E Missense 4/10 - 2
7-44190666-GTC-CAT c.370_372delinsATG p.D124M Missense 4/10 - 1
7-44190666-GTC-CCA c.370_372delinsTGG p.D124W Missense 4/10 - 1
7-44190666-GTC-CTT c.370_372delinsAAG p.D124K Missense 4/10 - 1
7-44190666-GTC-TTG c.370_372delinsCAA p.D124Q Missense 4/10 - 1
7-44190667-T-A c.371A>T p.D124V Missense 4/10 - 4
7-44190667-T-C c.371A>G p.D124G Missense 4/10 - 1
7-44190667-TC-AA c.370_371delinsTT p.D124F Missense 4/10 - 1
7-44190667-TC-AG c.370_371delinsCT p.D124L Missense 4/10 - 1
7-44190667-TC-AT c.370_371delinsAT p.D124I Missense 4/10 - 1
7-44190667-TC-CA c.370_371delinsTG p.D124C Missense 4/10 - 1
7-44190667-TC-CG c.370_371delinsCG p.D124R Missense 4/10 - 1
7-44190667-TC-CT c.370_371delinsAG p.D124S Missense 4/10 - 1
7-44190667-TC-GG c.370_371delinsCC p.D124P Missense 4/10 - 1
7-44190667-TC-GT c.370_371delinsAC p.D124T Missense 4/10 - 1
7-44190667-T-G c.371A>C p.D124A Missense 4/10 - 1
7-44190668-C-A c.370G>T p.D124Y Missense 4/10 - 1
7-44190668-C-G c.370G>C p.D124H Missense 4/10 - 2
7-44190668-C-T c.370G>A p.D124N Missense 4/10 - 11
7-44190669-G-A c.369C>T p.F123= Synonymous 4/10 - 2
7-44190669-GAA-CAT c.367_369delinsATG p.F123M Missense 4/10 - 1
7-44190669-GAA-CTC c.367_369delinsGAG p.F123E Missense 4/10 - 1
7-44190669-GAA-CTT c.367_369delinsAAG p.F123K Missense 4/10 - 1
7-44190669-GAA-TTG c.367_369delinsCAA p.F123Q Missense 4/10 - 1
7-44190669-GA-CC c.368_369delinsGG p.F123W Missense 4/10 - 1
7-44190670-AA-CC c.367_368delinsGG p.F123G Missense 4/10 - 1
7-44190670-AA-CG c.367_368delinsCG p.F123R Missense 4/10 - 1
7-44190670-AA-GC c.367_368delinsGC p.F123A Missense 4/10 - 1
7-44190670-AA-GG c.367_368delinsCC p.F123P Missense 4/10 - 1
7-44190670-AA-GT c.367_368delinsAC p.F123T Missense 4/10 - 1
7-44190670-AA-TC c.367_368delinsGA p.F123D Missense 4/10 - 1
7-44190670-AA-TG c.367_368delinsCA p.F123H Missense 4/10 - 1
7-44190670-AA-TT c.367_368inv p.F123N Missense 4/10 - 1
7-44190670-A-C c.368T>G p.F123C Missense 4/10 - 1
7-44190670-A-G c.368T>C p.F123S Missense 4/10 - 3
7-44190670-A-T c.368T>A p.F123Y Missense 4/10 - 1
7-44190669-G-C c.369C>G p.F123L Missense 4/10 - 6
7-44190669-G-T c.369C>A p.F123L Missense 4/10 - 5
7-44190671-A-C c.367T>G p.F123V Missense 4/10 - 1
7-44190671-A-G c.367T>C p.F123L Missense 4/10 - 5
7-44190671-A-T c.367T>A p.F123I Missense 4/10 - 1
7-44190672-G-A c.366C>T p.L122= Synonymous 4/10 - 1
7-44190672-GAG-CAT c.364_366delinsATG p.L122M Missense 4/10 - 1
7-44190672-GAG-CCA c.364_366delinsTGG p.L122W Missense 4/10 - 1
7-44190672-GAG-CTC c.364_366inv p.L122E Missense 4/10 - 1
7-44190672-GAG-CTT c.364_366delinsAAG p.L122K Missense 4/10 - 1
7-44190672-GA-TT c.365_366delinsAA p.L122Q Missense 4/10 - 1
7-44190672-G-C c.366C>G p.L122= Synonymous 4/10 - 1
7-44190672-G-T c.366C>A p.L122= Synonymous 4/10 - 1
7-44190673-A-C c.365T>G p.L122R Missense 4/10 - 1
7-44190673-A-G c.365T>C p.L122P Missense 4/10 - 2
7-44190673-AG-CA c.364_365delinsTG p.L122C Missense 4/10 - 1
7-44190673-AG-CC c.364_365delinsGG p.L122G Missense 4/10 - 1
7-44190673-AG-CT c.364_365inv p.L122S Missense 4/10 - 1
7-44190673-AG-GC c.364_365delinsGC p.L122A Missense 4/10 - 1
7-44190673-AG-GT c.364_365delinsAC p.L122T Missense 4/10 - 1
7-44190673-AG-TA c.364_365delinsTA p.L122Y Missense 4/10 - 1
7-44190673-AG-TC c.364_365delinsGA p.L122D Missense 4/10 - 1
7-44190673-AG-TT c.364_365delinsAA p.L122N Missense 4/10 - 1
7-44190673-A-T c.365T>A p.L122H Missense 4/10 - 1
7-44190674-G-A c.364C>T p.L122F Missense 4/10 - 7
7-44190674-G-C c.364C>G p.L122V Missense 4/10 - 2
7-44190674-G-T c.364C>A p.L122I Missense 4/10 - 4
7-44190712-G-C c.364-38C>G - IntronicSNV - 3/9 1
7-44191190-T-A c.364-516A>T - IntronicSNV - 3/9 2
7-44191190-T-G c.364-516A>C - IntronicSNV - 3/9 2
7-44191309-C-T c.363+561G>A - IntronicSNV - 3/9 3
7-44191346-T-C c.363+524A>G - IntronicSNV - 3/9 2
7-44191552-C-T c.363+318G>A - IntronicSNV - 3/9 1
7-44191652-G-A c.363+218C>T - IntronicSNV - 3/9 1
7-44191705-G-A c.363+165C>T - IntronicSNV - 3/9 2
7-44191706-C-T c.363+164G>A - IntronicSNV - 3/9 1
7-44191761-C-T c.363+109G>A - IntronicSNV - 3/9 1
7-44191800-C-T c.363+70G>A - IntronicSNV - 3/9 1
7-44191861-G-A c.363+9C>T - IntronicSNV - 3/9 1
7-44191864-G-T c.363+6C>A - IntronicSNV - 3/9 1
7-44191869-C-G c.363+1G>C - IntronicSNV - 3/9 1
7-44191868-AC-A c.363+1del - IntronicDeletion 3/10 - 1
7-44191870-C-A c.363G>T p.M121I Missense 3/10 - 1
7-44191870-CA-GC c.362_363delinsGC p.M121S Missense 3/10 - 1
7-44191870-CA-GT c.362_363delinsAC p.M121N Missense 3/10 - 1
7-44191870-CAT-AAA c.361_363delinsTTT p.M121F Missense 3/10 - 1
7-44191870-CAT-ACA c.361_363delinsTGT p.M121C Missense 3/10 - 1
7-44191870-CAT-ATA c.361_363delinsTAT p.M121Y Missense 3/10 - 1
7-44191870-CAT-ATG c.361_363inv p.M121H Missense 3/10 - 1
7-44191870-CAT-GTC c.361_363delinsGAC p.M121D Missense 3/10 - 1
7-44191870-C-G c.363G>C p.M121I Missense 3/10 - 1
7-44191870-C-T c.363G>A p.M121I Missense 3/10 - 1
7-44191871-A-C c.362T>G p.M121R Missense 3/10 - 1
7-44191871-A-G c.362T>C p.M121T Missense 3/10 - 1
7-44191871-A-T c.362T>A p.M121K Missense 3/10 - 2
7-44191871-AT-CA c.361_362delinsTG p.M121W Missense 3/10 - 1
7-44191871-AT-CC c.361_362delinsGG p.M121G Missense 3/10 - 1
7-44191871-AT-GC c.361_362delinsGC p.M121A Missense 3/10 - 2
7-44191871-AT-GG c.361_362delinsCC p.M121P Missense 3/10 - 1
7-44191871-AT-TC c.361_362delinsGA p.M121E Missense 3/10 - 1
7-44191871-AT-TG c.361_362delinsCA p.M121Q Missense 3/10 - 1
7-44191872-T-A c.361A>T p.M121L Missense 3/10 - 1
7-44191872-T-C c.361A>G p.M121V Missense 3/10 - 1
7-44191872-T-G c.361A>C p.M121L Missense 3/10 - 1
7-44191873-C-A c.360G>T p.E120D Missense 3/10 - 1
7-44191873-C-G c.360G>C p.E120D Missense 3/10 - 1
7-44191873-CTC-AAA c.358_360delinsTTT p.E120F Missense 3/10 - 1
7-44191873-CTC-ACA c.358_360delinsTGT p.E120C Missense 3/10 - 1
7-44191873-CTC-ATA c.358_360delinsTAT p.E120Y Missense 3/10 - 1
7-44191873-CTC-ATG c.358_360delinsCAT p.E120H Missense 3/10 - 1
7-44191873-CTC-GAT c.358_360delinsATC p.E120I Missense 3/10 - 1
7-44191873-CTC-GTT c.358_360delinsAAC p.E120N Missense 3/10 - 1
7-44191874-T-A c.359A>T p.E120V Missense 3/10 - 1
7-44191874-T-C c.359A>G p.E120G Missense 3/10 - 1
7-44191874-TC-AG c.358_359delinsCT p.E120L Missense 3/10 - 1
7-44191874-TC-AT c.358_359delinsAT p.E120M Missense 3/10 - 1
7-44191874-TC-CA c.358_359delinsTG p.E120W Missense 3/10 - 1
7-44191874-TC-CT c.358_359delinsAG p.E120R Missense 3/10 - 1
7-44191874-TC-GA c.358_359inv p.E120S Missense 3/10 - 1
7-44191874-TC-GG c.358_359delinsCC p.E120P Missense 3/10 - 1
7-44191874-TC-GT c.358_359delinsAC p.E120T Missense 3/10 - 1
7-44191874-T-G c.359A>C p.E120A Missense 3/10 - 1
7-44191875-C-G c.358G>C p.E120Q Missense 3/10 - 1
7-44191875-C-T c.358G>A p.E120K Missense 3/10 - 4
7-44191874-TCAGCAGTG-T c.351_358del p.T118Dfs*8 Frameshift 3/10 - 3
7-44191876-AGC-CAT c.355_357delinsATG p.A119M Missense 3/10 - 1
7-44191876-AGC-CCA c.355_357delinsTGG p.A119W Missense 3/10 - 1
7-44191876-AGC-CTT c.355_357delinsAAG p.A119K Missense 3/10 - 1
7-44191876-AG-CT c.356_357inv p.A119E Missense 3/10 - 1
7-44191876-AGC-TTG c.355_357delinsCAA p.A119Q Missense 3/10 - 1
7-44191877-G-A c.356C>T p.A119V Missense 3/10 - 1
7-44191877-G-C c.356C>G p.A119G Missense 3/10 - 1
7-44191877-GC-AA c.355_356delinsTT p.A119F Missense 3/10 - 1
7-44191877-GC-AG c.355_356delinsCT p.A119L Missense 3/10 - 1
7-44191877-GC-AT c.355_356delinsAT p.A119I Missense 3/10 - 1
7-44191877-GC-CA c.355_356delinsTG p.A119C Missense 3/10 - 1
7-44191877-GC-CG c.355_356delinsCG p.A119R Missense 3/10 - 1
7-44191877-GC-TA c.355_356delinsTA p.A119Y Missense 3/10 - 1
7-44191877-GC-TG c.355_356delinsCA p.A119H Missense 3/10 - 1
7-44191877-GC-TT c.355_356delinsAA p.A119N Missense 3/10 - 1
7-44191877-G-T c.356C>A p.A119D Missense 3/10 - 8
7-44191878-C-A c.355G>T p.A119S Missense 3/10 - 1
7-44191878-C-G c.355G>C p.A119P Missense 3/10 - 1
7-44191878-C-T c.355G>A p.A119T Missense 3/10 - 2
7-44191879-AG-CA c.353_354delinsTG p.T118M Missense 3/10 - 1
7-44191879-AG-CC c.353_354delinsGG p.T118R Missense 3/10 - 1
7-44191879-AG-CT c.353_354inv p.T118K Missense 3/10 - 1
7-44191879-AGT-CCA c.352_354delinsTGG p.T118W Missense 3/10 - 1
7-44191879-AGT-CTC c.352_354delinsGAG p.T118E Missense 3/10 - 1
7-44191879-AGT-TTG c.352_354delinsCAA p.T118Q Missense 3/10 - 1
7-44191880-G-A c.353C>T p.T118I Missense 3/10 - 4
7-44191880-G-C c.353C>G p.T118S Missense 3/10 - 1
7-44191880-G-T c.353C>A p.T118N Missense 3/10 - 1
7-44191880-GT-AA c.352_353delinsTT p.T118F Missense 3/10 - 1
7-44191880-GT-AC c.352_353inv p.T118V Missense 3/10 - 1
7-44191880-GT-AG c.352_353delinsCT p.T118L Missense 3/10 - 1
7-44191880-GT-CA c.352_353delinsTG p.T118C Missense 3/10 - 1
7-44191880-GT-CC c.352_353delinsGG p.T118G Missense 3/10 - 1
7-44191880-GT-TA c.352_353delinsTA p.T118Y Missense 3/10 - 1
7-44191880-GT-TC c.352_353delinsGA p.T118D Missense 3/10 - 1
7-44191880-GT-TG c.352_353delinsCA p.T118H Missense 3/10 - 1
7-44191881-T-A c.352A>T p.T118S Missense 3/10 - 1
7-44191881-T-C c.352A>G p.T118A Missense 3/10 - 1
7-44191881-T-G c.352A>C p.T118P Missense 3/10 - 1
7-44191882-GCC-CAT c.349_351delinsATG p.G117M Missense 3/10 - 1
7-44191882-GCC-CCA c.349_351delinsTGG p.G117W Missense 3/10 - 1
7-44191882-GCC-CTT c.349_351delinsAAG p.G117K Missense 3/10 - 1
7-44191882-GC-CT c.350_351delinsAG p.G117E Missense 3/10 - 1
7-44191882-GCC-TTG c.349_351delinsCAA p.G117Q Missense 3/10 - 1
7-44191883-C-A c.350G>T p.G117V Missense 3/10 - 2
7-44191883-CC-AA c.349_350delinsTT p.G117F Missense 3/10 - 1
7-44191883-CC-AG c.349_350delinsCT p.G117L Missense 3/10 - 1
7-44191883-CC-AT c.349_350delinsAT p.G117I Missense 3/10 - 1
7-44191883-CC-GG c.349_350inv p.G117P Missense 3/10 - 1
7-44191883-CC-GT c.349_350delinsAC p.G117T Missense 3/10 - 1
7-44191883-CC-TA c.349_350delinsTA p.G117Y Missense 3/10 - 1
7-44191883-CC-TG c.349_350delinsCA p.G117H Missense 3/10 - 1
7-44191883-CC-TT c.349_350delinsAA p.G117N Missense 3/10 - 1
7-44191883-C-G c.350G>C p.G117A Missense 3/10 - 1
7-44191883-C-T c.350G>A p.G117D Missense 3/10 - 2
7-44191884-C-A c.349G>T p.G117C Missense 3/10 - 1
7-44191884-C-G c.349G>C p.G117R Missense 3/10 - 4
7-44191884-C-T c.349G>A p.G117S Missense 3/10 - 3
7-44191885-G-A c.348C>T p.T116= Synonymous 3/10 - 1
7-44191885-GG-CA c.347_348delinsTG p.T116M Missense 3/10 - 2
7-44191885-GG-CC c.347_348inv p.T116R Missense 3/10 - 1
7-44191885-GG-CT c.347_348delinsAG p.T116K Missense 3/10 - 1
7-44191885-GGT-CCA c.346_348delinsTGG p.T116W Missense 3/10 - 1
7-44191885-GGT-CTC c.346_348delinsGAG p.T116E Missense 3/10 - 1
7-44191885-GGT-TTG c.346_348delinsCAA p.T116Q Missense 3/10 - 1
7-44191886-G-A c.347C>T p.T116I Missense 3/10 - 3
7-44191886-G-C c.347C>G p.T116S Missense 3/10 - 1
7-44191886-G-T c.347C>A p.T116N Missense 3/10 - 1
7-44191886-GT-AA c.346_347delinsTT p.T116F Missense 3/10 - 1
7-44191886-GT-AC c.346_347inv p.T116V Missense 3/10 - 1
7-44191886-GT-AG c.346_347delinsCT p.T116L Missense 3/10 - 1
7-44191886-GT-CA c.346_347delinsTG p.T116C Missense 3/10 - 1
7-44191886-GT-CC c.346_347delinsGG p.T116G Missense 3/10 - 1
7-44191886-GT-TA c.346_347delinsTA p.T116Y Missense 3/10 - 1
7-44191886-GT-TC c.346_347delinsGA p.T116D Missense 3/10 - 1
7-44191886-GT-TG c.346_347delinsCA p.T116H Missense 3/10 - 1
7-44191887-T-A c.346A>T p.T116S Missense 3/10 - 1
7-44191887-T-C c.346A>G p.T116A Missense 3/10 - 1
7-44191887-T-G c.346A>C p.T116P Missense 3/10 - 2
7-44191888-C-A c.345G>T p.M115I Missense 3/10 - 2
7-44191888-CA-GC c.344_345delinsGC p.M115S Missense 3/10 - 1
7-44191888-CA-GT c.344_345delinsAC p.M115N Missense 3/10 - 1
7-44191888-CAT-AAA c.343_345delinsTTT p.M115F Missense 3/10 - 1
7-44191888-CAT-ACA c.343_345delinsTGT p.M115C Missense 3/10 - 1
7-44191888-CAT-ATA c.343_345delinsTAT p.M115Y Missense 3/10 - 1
7-44191888-CAT-ATG c.343_345inv p.M115H Missense 3/10 - 1
7-44191888-CAT-GTC c.343_345delinsGAC p.M115D Missense 3/10 - 1
7-44191888-C-G c.345G>C p.M115I Missense 3/10 - 2
7-44191888-C-T c.345G>A p.M115I Missense 3/10 - 2
7-44191888-C-CA c.344dup p.M115Ifs*6 Frameshift 3/10 - 1
7-44191889-A-C c.344T>G p.M115R Missense 3/10 - 1
7-44191889-A-G c.344T>C p.M115T Missense 3/10 - 3
7-44191889-A-T c.344T>A p.M115K Missense 3/10 - 3
7-44191889-AT-CA c.343_344delinsTG p.M115W Missense 3/10 - 1
7-44191889-AT-CC c.343_344delinsGG p.M115G Missense 3/10 - 1
7-44191889-AT-GC c.343_344delinsGC p.M115A Missense 3/10 - 1
7-44191889-AT-GG c.343_344delinsCC p.M115P Missense 3/10 - 1
7-44191889-AT-TC c.343_344delinsGA p.M115E Missense 3/10 - 1
7-44191889-AT-TG c.343_344delinsCA p.M115Q Missense 3/10 - 1
7-44191890-T-A c.343A>T p.M115L Missense 3/10 - 1
7-44191890-T-C c.343A>G p.M115V Missense 3/10 - 4
7-44191890-T-G c.343A>C p.M115L Missense 3/10 - 1
7-44191891-GGC-CAT c.340_342delinsATG p.A114M Missense 3/10 - 1
7-44191891-GGC-CCA c.340_342delinsTGG p.A114W Missense 3/10 - 1
7-44191891-GGC-CTT c.340_342delinsAAG p.A114K Missense 3/10 - 1
7-44191891-GG-CT c.341_342delinsAG p.A114E Missense 3/10 - 1
7-44191891-GGC-TTG c.340_342delinsCAA p.A114Q Missense 3/10 - 1
7-44191892-G-A c.341C>T p.A114V Missense 3/10 - 1
7-44191892-G-C c.341C>G p.A114G Missense 3/10 - 1
7-44191892-GC-AA c.340_341delinsTT p.A114F Missense 3/10 - 1
7-44191892-GC-AG c.340_341delinsCT p.A114L Missense 3/10 - 1
7-44191892-GC-AT c.340_341delinsAT p.A114I Missense 3/10 - 1
7-44191892-GC-CA c.340_341delinsTG p.A114C Missense 3/10 - 1
7-44191892-GC-CG c.340_341delinsCG p.A114R Missense 3/10 - 1
7-44191892-GC-TA c.340_341delinsTA p.A114Y Missense 3/10 - 1
7-44191892-GC-TG c.340_341delinsCA p.A114H Missense 3/10 - 1
7-44191892-GC-TT c.340_341delinsAA p.A114N Missense 3/10 - 1
7-44191892-G-T c.341C>A p.A114D Missense 3/10 - 1
7-44191893-C-A c.340G>T p.A114S Missense 3/10 - 1
7-44191893-C-G c.340G>C p.A114P Missense 3/10 - 1
7-44191893-C-T c.340G>A p.A114T Missense 3/10 - 3
7-44191894-G-A c.339C>T p.D113= Synonymous 3/10 - 3
7-44191894-G-C c.339C>G p.D113E Missense 3/10 - 1
7-44191894-G-T c.339C>A p.D113E Missense 3/10 - 1
7-44191894-GTC-CAT c.337_339delinsATG p.D113M Missense 3/10 - 1
7-44191894-GTC-CCA c.337_339delinsTGG p.D113W Missense 3/10 - 1
7-44191894-GTC-CTT c.337_339delinsAAG p.D113K Missense 3/10 - 1
7-44191894-GTC-TTG c.337_339delinsCAA p.D113Q Missense 3/10 - 1
7-44191895-T-A c.338A>T p.D113V Missense 3/10 - 1
7-44191895-T-C c.338A>G p.D113G Missense 3/10 - 1
7-44191895-TC-AA c.337_338delinsTT p.D113F Missense 3/10 - 1
7-44191895-TC-AG c.337_338delinsCT p.D113L Missense 3/10 - 1
7-44191895-TC-AT c.337_338delinsAT p.D113I Missense 3/10 - 1
7-44191895-TC-CA c.337_338delinsTG p.D113C Missense 3/10 - 1
7-44191895-TC-CG c.337_338delinsCG p.D113R Missense 3/10 - 1
7-44191895-TC-CT c.337_338delinsAG p.D113S Missense 3/10 - 1
7-44191895-TC-GG c.337_338delinsCC p.D113P Missense 3/10 - 1
7-44191895-TC-GT c.337_338delinsAC p.D113T Missense 3/10 - 1
7-44191895-T-G c.338A>C p.D113A Missense 3/10 - 1
7-44191896-C-A c.337G>T p.D113Y Missense 3/10 - 1
7-44191896-C-G c.337G>C p.D113H Missense 3/10 - 1
7-44191896-C-T c.337G>A p.D113N Missense 3/10 - 1
7-44191897-C-A c.336G>T p.E112D Missense 3/10 - 1
7-44191897-C-G c.336G>C p.E112D Missense 3/10 - 1
7-44191897-CTC-AAA c.334_336delinsTTT p.E112F Missense 3/10 - 1
7-44191897-CTC-ACA c.334_336delinsTGT p.E112C Missense 3/10 - 1
7-44191897-CTC-ATA c.334_336delinsTAT p.E112Y Missense 3/10 - 1
7-44191897-CTC-ATG c.334_336delinsCAT p.E112H Missense 3/10 - 1
7-44191897-CTC-GAT c.334_336delinsATC p.E112I Missense 3/10 - 1
7-44191897-CTC-GTT c.334_336delinsAAC p.E112N Missense 3/10 - 1
7-44191898-CT-C c.335del p.E112Gfs*4 Frameshift 3/10 - 1
7-44191898-T-A c.335A>T p.E112V Missense 3/10 - 1
7-44191898-T-C c.335A>G p.E112G Missense 3/10 - 1
7-44191898-TC-AG c.334_335delinsCT p.E112L Missense 3/10 - 1
7-44191898-TC-AT c.334_335delinsAT p.E112M Missense 3/10 - 1
7-44191898-TC-CA c.334_335delinsTG p.E112W Missense 3/10 - 1
7-44191898-TC-CT c.334_335delinsAG p.E112R Missense 3/10 - 1
7-44191898-TC-GA c.334_335inv p.E112S Missense 3/10 - 1
7-44191898-TC-GG c.334_335delinsCC p.E112P Missense 3/10 - 1
7-44191898-TC-GT c.334_335delinsAC p.E112T Missense 3/10 - 1
7-44191898-T-G c.335A>C p.E112A Missense 3/10 - 1
7-44191899-C-G c.334G>C p.E112Q Missense 3/10 - 1
7-44191899-C-T c.334G>A p.E112K Missense 3/10 - 4
7-44191900-G-A c.333C>T p.P111= Synonymous 3/10 - 2
7-44191900-GGG-CAT c.331_333delinsATG p.P111M Missense 3/10 - 1
7-44191900-GGG-CCA c.331_333delinsTGG p.P111W Missense 3/10 - 1
7-44191900-GGG-CTC c.331_333delinsGAG p.P111E Missense 3/10 - 1
7-44191900-GGG-CTT c.331_333delinsAAG p.P111K Missense 3/10 - 1
7-44191900-GG-TT c.332_333delinsAA p.P111Q Missense 3/10 - 1
7-44191901-G-A c.332C>T p.P111L Missense 3/10 - 5
7-44191901-G-C c.332C>G p.P111R Missense 3/10 - 1
7-44191901-GG-AA c.331_332delinsTT p.P111F Missense 3/10 - 1
7-44191901-GG-AC c.331_332delinsGT p.P111V Missense 3/10 - 1
7-44191901-GG-AT c.331_332delinsAT p.P111I Missense 3/10 - 1
7-44191901-GG-CA c.331_332delinsTG p.P111C Missense 3/10 - 1
7-44191901-GG-CC c.331_332inv p.P111G Missense 3/10 - 1
7-44191901-GG-TA c.331_332delinsTA p.P111Y Missense 3/10 - 1
7-44191901-GG-TC c.331_332delinsGA p.P111D Missense 3/10 - 1
7-44191901-GG-TT c.331_332delinsAA p.P111N Missense 3/10 - 1
7-44191901-G-T c.332C>A p.P111H Missense 3/10 - 1
7-44191899-CGGGGATGGAGTACATCT-C c.317_333del p.Q106Rfs*9 Frameshift 3/10 - 2
7-44191902-G-A c.331C>T p.P111S Missense 3/10 - 1
7-44191902-G-C c.331C>G p.P111A Missense 3/10 - 1
7-44191902-G-T c.331C>A p.P111T Missense 3/10 - 1
7-44191903-G-A c.330C>T p.I110= Synonymous 3/10 - 1
7-44191903-GA-CC c.329_330delinsGG p.I110R Missense 3/10 - 1
7-44191903-GA-CT c.329_330delinsAG p.I110K Missense 3/10 - 1
7-44191903-GAT-CCA c.328_330delinsTGG p.I110W Missense 3/10 - 1
7-44191903-GAT-CTC c.328_330delinsGAG p.I110E Missense 3/10 - 1
7-44191903-GAT-TTG c.328_330delinsCAA p.I110Q Missense 3/10 - 1
7-44191903-G-C c.330C>G p.I110M Missense 3/10 - 1
7-44191904-A-C c.329T>G p.I110S Missense 3/10 - 1
7-44191904-A-G c.329T>C p.I110T Missense 3/10 - 7
7-44191904-A-T c.329T>A p.I110N Missense 3/10 - 3
7-44191904-AT-CA c.328_329delinsTG p.I110C Missense 3/10 - 1
7-44191904-AT-CC c.328_329delinsGG p.I110G Missense 3/10 - 1
7-44191904-AT-GC c.328_329delinsGC p.I110A Missense 3/10 - 1
7-44191904-AT-GG c.328_329delinsCC p.I110P Missense 3/10 - 1
7-44191904-AT-TA c.328_329delinsTA p.I110Y Missense 3/10 - 1
7-44191904-AT-TC c.328_329delinsGA p.I110D Missense 3/10 - 1
7-44191904-AT-TG c.328_329delinsCA p.I110H Missense 3/10 - 1
7-44191905-T-A c.328A>T p.I110F Missense 3/10 - 1
7-44191905-T-C c.328A>G p.I110V Missense 3/10 - 1
7-44191905-T-G c.328A>C p.I110L Missense 3/10 - 1
7-44191906-GGA-CAT c.325_327delinsATG p.S109M Missense 3/10 - 1
7-44191906-GGA-CTC c.325_327delinsGAG p.S109E Missense 3/10 - 1
7-44191906-GGA-CTT c.325_327delinsAAG p.S109K Missense 3/10 - 1
7-44191906-GGA-TTG c.325_327delinsCAA p.S109Q Missense 3/10 - 1
7-44191906-GG-CC c.326_327inv p.S109W Missense 3/10 - 1
7-44191907-G-A c.326C>T p.S109F Missense 3/10 - 1
7-44191907-GA-AC c.325_326delinsGT p.S109V Missense 3/10 - 1
7-44191907-GA-AG c.325_326delinsCT p.S109L Missense 3/10 - 1
7-44191907-GA-AT c.325_326delinsAT p.S109I Missense 3/10 - 1
7-44191907-GA-CC c.325_326delinsGG p.S109G Missense 3/10 - 1
7-44191907-GA-CG c.325_326delinsCG p.S109R Missense 3/10 - 1
7-44191907-GA-TC c.325_326inv p.S109D Missense 3/10 - 1
7-44191907-GA-TG c.325_326delinsCA p.S109H Missense 3/10 - 1
7-44191907-GA-TT c.325_326delinsAA p.S109N Missense 3/10 - 1
7-44191907-G-C c.326C>G p.S109C Missense 3/10 - 1
7-44191907-G-T c.326C>A p.S109Y Missense 3/10 - 1
7-44191908-A-C c.325T>G p.S109A Missense 3/10 - 1
7-44191908-A-G c.325T>C p.S109P Missense 3/10 - 2
7-44191908-A-T c.325T>A p.S109T Missense 3/10 - 1
7-44191909-G-A c.324C>T p.Y108= Synonymous 3/10 - 1
7-44191909-G-C c.324C>G p.Y108* Nonsense 3/10 - 1
7-44191909-G-T c.324C>A p.Y108* Nonsense 3/10 - 2
7-44191909-GTA-CAT c.322_324delinsATG p.Y108M Missense 3/10 - 1
7-44191909-GTA-CTC c.322_324delinsGAG p.Y108E Missense 3/10 - 1
7-44191909-GTA-CTT c.322_324delinsAAG p.Y108K Missense 3/10 - 1
7-44191909-GTA-TTG c.322_324delinsCAA p.Y108Q Missense 3/10 - 1
7-44191909-GT-CC c.323_324delinsGG p.Y108W Missense 3/10 - 1
7-44191910-T-A c.323A>T p.Y108F Missense 3/10 - 1
7-44191910-TA-AC c.322_323delinsGT p.Y108V Missense 3/10 - 1
7-44191910-TA-AG c.322_323delinsCT p.Y108L Missense 3/10 - 1
7-44191910-TA-AT c.322_323delinsAT p.Y108I Missense 3/10 - 1
7-44191910-TA-CC c.322_323delinsGG p.Y108G Missense 3/10 - 1
7-44191910-TA-CG c.322_323delinsCG p.Y108R Missense 3/10 - 1
7-44191910-TA-GC c.322_323delinsGC p.Y108A Missense 3/10 - 1
7-44191910-TA-GG c.322_323delinsCC p.Y108P Missense 3/10 - 1
7-44191910-TA-GT c.322_323delinsAC p.Y108T Missense 3/10 - 1
7-44191910-T-C c.323A>G p.Y108C Missense 3/10 - 4
7-44191910-T-G c.323A>C p.Y108S Missense 3/10 - 1
7-44191911-A-C c.322T>G p.Y108D Missense 3/10 - 4
7-44191911-A-G c.322T>C p.Y108H Missense 3/10 - 7
7-44191911-A-T c.322T>A p.Y108N Missense 3/10 - 2
7-44191912-C-A c.321G>T p.M107I Missense 3/10 - 1
7-44191912-CA-GC c.320_321delinsGC p.M107S Missense 3/10 - 1
7-44191912-CA-GT c.320_321delinsAC p.M107N Missense 3/10 - 1
7-44191912-CAT-AAA c.319_321delinsTTT p.M107F Missense 3/10 - 1
7-44191912-CAT-ACA c.319_321delinsTGT p.M107C Missense 3/10 - 1
7-44191912-CAT-ATA c.319_321delinsTAT p.M107Y Missense 3/10 - 1
7-44191912-CAT-ATG c.319_321inv p.M107H Missense 3/10 - 1
7-44191912-CAT-GTC c.319_321delinsGAC p.M107D Missense 3/10 - 1
7-44191912-C-G c.321G>C p.M107I Missense 3/10 - 1
7-44191912-C-T c.321G>A p.M107I Missense 3/10 - 3
7-44191913-A-C c.320T>G p.M107R Missense 3/10 - 1
7-44191913-A-G c.320T>C p.M107T Missense 3/10 - 3
7-44191913-A-T c.320T>A p.M107K Missense 3/10 - 1
7-44191913-AT-CA c.319_320delinsTG p.M107W Missense 3/10 - 1
7-44191913-AT-CC c.319_320delinsGG p.M107G Missense 3/10 - 1
7-44191913-AT-GC c.319_320delinsGC p.M107A Missense 3/10 - 1
7-44191913-AT-GG c.319_320delinsCC p.M107P Missense 3/10 - 1
7-44191913-AT-TC c.319_320delinsGA p.M107E Missense 3/10 - 1
7-44191913-AT-TG c.319_320delinsCA p.M107Q Missense 3/10 - 1
7-44191914-ATCT-A c.317_319del p.Q106_M107delinsL MultiAAMissense 3/10 - 1
7-44191914-T-A c.319A>T p.M107L Missense 3/10 - 1
7-44191914-T-C c.319A>G p.M107V Missense 3/10 - 1
7-44191914-T-G c.319A>C p.M107L Missense 3/10 - 1
7-44191915-C-A c.318G>T p.Q106H Missense 3/10 - 1
7-44191915-C-G c.318G>C p.Q106H Missense 3/10 - 1
7-44191915-C-T c.318G>A p.Q106= Synonymous 3/10 - 1
7-44191915-CTG-AAA c.316_318delinsTTT p.Q106F Missense 3/10 - 1
7-44191915-CTG-ACA c.316_318delinsTGT p.Q106C Missense 3/10 - 1
7-44191915-CTG-ATA c.316_318delinsTAT p.Q106Y Missense 3/10 - 1
7-44191915-CTG-GAT c.316_318delinsATC p.Q106I Missense 3/10 - 1
7-44191915-CTG-GTC c.316_318delinsGAC p.Q106D Missense 3/10 - 1
7-44191915-CTG-GTT c.316_318delinsAAC p.Q106N Missense 3/10 - 1
7-44191916-T-A c.317A>T p.Q106L Missense 3/10 - 1
7-44191916-T-C c.317A>G p.Q106R Missense 3/10 - 2
7-44191916-T-G c.317A>C p.Q106P Missense 3/10 - 2
7-44191916-TG-AC c.316_317delinsGT p.Q106V Missense 3/10 - 1
7-44191916-TG-AT c.316_317delinsAT p.Q106M Missense 3/10 - 1
7-44191916-TG-CA c.316_317inv p.Q106W Missense 3/10 - 1
7-44191916-TG-CC c.316_317delinsGG p.Q106G Missense 3/10 - 1
7-44191916-TG-GA c.316_317delinsTC p.Q106S Missense 3/10 - 1
7-44191916-TG-GC c.316_317delinsGC p.Q106A Missense 3/10 - 1
7-44191916-TG-GT c.316_317delinsAC p.Q106T Missense 3/10 - 1
7-44191917-G-A c.316C>T p.Q106* Nonsense 3/10 - 7
7-44191917-G-C c.316C>G p.Q106E Missense 3/10 - 1
7-44191917-G-T c.316C>A p.Q106K Missense 3/10 - 1
7-44191918-G-C c.315C>G p.H105Q Missense 3/10 - 2
7-44191918-G-T c.315C>A p.H105Q Missense 3/10 - 2
7-44191918-GTG-CAT c.313_315delinsATG p.H105M Missense 3/10 - 1
7-44191918-GTG-CCA c.313_315delinsTGG p.H105W Missense 3/10 - 1
7-44191918-GTG-CTC c.313_315delinsGAG p.H105E Missense 3/10 - 1
7-44191918-GTG-CTT c.313_315delinsAAG p.H105K Missense 3/10 - 1
7-44191919-T-A c.314A>T p.H105L Missense 3/10 - 1
7-44191919-T-C c.314A>G p.H105R Missense 3/10 - 3
7-44191919-T-G c.314A>C p.H105P Missense 3/10 - 1
7-44191919-TG-AA c.313_314delinsTT p.H105F Missense 3/10 - 1
7-44191919-TG-AC c.313_314delinsGT p.H105V Missense 3/10 - 1
7-44191919-TG-AT c.313_314delinsAT p.H105I Missense 3/10 - 1
7-44191919-TG-CA c.313_314inv p.H105C Missense 3/10 - 1
7-44191919-TG-CC c.313_314delinsGG p.H105G Missense 3/10 - 1
7-44191919-TG-CT c.313_314delinsAG p.H105S Missense 3/10 - 1
7-44191919-TG-GC c.313_314delinsGC p.H105A Missense 3/10 - 1
7-44191919-TG-GT c.313_314delinsAC p.H105T Missense 3/10 - 1
7-44191920-G-A c.313C>T p.H105Y Missense 3/10 - 1
7-44191920-G-C c.313C>G p.H105D Missense 3/10 - 1
7-44191920-G-GGTTTGGTCTCC c.312_313insGGAGACCAAAC p.H105Gfs*15 Frameshift 3/10 - 1
7-44191920-G-T c.313C>A p.H105N Missense 3/10 - 1
7-44191920-TG-T c.313del p.H105Tfs*11 Frameshift 3/10 - 2
7-44191921-T-A c.312A>T p.K104N Missense 3/10 - 1
7-44191921-T-G c.312A>C p.K104N Missense 3/10 - 1
7-44191921-TT-CA c.311_312delinsTG p.K104M Missense 3/10 - 1
7-44191921-TT-GC c.311_312delinsGC p.K104S Missense 3/10 - 1
7-44191921-TTT-AAA c.310_312inv p.K104F Missense 3/10 - 1
7-44191921-TTT-ACA c.310_312delinsTGT p.K104C Missense 3/10 - 1
7-44191921-TTT-ATA c.310_312delinsTAT p.K104Y Missense 3/10 - 1
7-44191921-TTT-ATG c.310_312delinsCAT p.K104H Missense 3/10 - 1
7-44191921-TTT-CCA c.310_312delinsTGG p.K104W Missense 3/10 - 1
7-44191921-TTT-GTC c.310_312delinsGAC p.K104D Missense 3/10 - 1
7-44191922-T-A c.311A>T p.K104I Missense 3/10 - 1
7-44191922-T-C c.311A>G p.K104R Missense 3/10 - 2
7-44191922-T-G c.311A>C p.K104T Missense 3/10 - 1
7-44191922-TT-AC c.310_311delinsGT p.K104V Missense 3/10 - 1
7-44191922-TT-AG c.310_311delinsCT p.K104L Missense 3/10 - 1
7-44191922-TT-CC c.310_311delinsGG p.K104G Missense 3/10 - 1
7-44191922-TT-GC c.310_311delinsGC p.K104A Missense 3/10 - 1
7-44191922-TT-GG c.310_311delinsCC p.K104P Missense 3/10 - 1
7-44191923-T-C c.310A>G p.K104E Missense 3/10 - 2
7-44191923-T-G c.310A>C p.K104Q Missense 3/10 - 1
7-44191923-T-TA c.309_310insT p.K104* Nonsense 3/10 - 1
7-44191924-GG-CA c.308_309delinsTG p.T103M Missense 3/10 - 1
7-44191924-GG-CC c.308_309inv p.T103R Missense 3/10 - 1
7-44191924-GG-CT c.308_309delinsAG p.T103K Missense 3/10 - 3
7-44191924-GGT-CCA c.307_309delinsTGG p.T103W Missense 3/10 - 1
7-44191924-GGT-CTC c.307_309delinsGAG p.T103E Missense 3/10 - 1
7-44191924-GGT-TTG c.307_309delinsCAA p.T103Q Missense 3/10 - 1
7-44191925-G-A c.308C>T p.T103I Missense 3/10 - 2
7-44191925-G-C c.308C>G p.T103S Missense 3/10 - 5
7-44191925-G-T c.308C>A p.T103N Missense 3/10 - 2
7-44191925-GT-AA c.307_308delinsTT p.T103F Missense 3/10 - 1
7-44191925-GT-AC c.307_308inv p.T103V Missense 3/10 - 1
7-44191925-GT-AG c.307_308delinsCT p.T103L Missense 3/10 - 1
7-44191925-GT-CA c.307_308delinsTG p.T103C Missense 3/10 - 3
7-44191925-GT-CC c.307_308delinsGG p.T103G Missense 3/10 - 1
7-44191925-GT-TA c.307_308delinsTA p.T103Y Missense 3/10 - 3
7-44191925-GT-TC c.307_308delinsGA p.T103D Missense 3/10 - 1
7-44191925-GT-TG c.307_308delinsCA p.T103H Missense 3/10 - 1
7-44191926-T-A c.307A>T p.T103S Missense 3/10 - 2
7-44191926-T-C c.307A>G p.T103A Missense 3/10 - 3
7-44191926-T-G c.307A>C p.T103P Missense 3/10 - 3
7-44191927-C-A c.306G>T p.K102N Missense 3/10 - 1
7-44191927-C-G c.306G>C p.K102N Missense 3/10 - 1
7-44191927-C-T c.306G>A p.K102= Synonymous 3/10 - 1
7-44191927-CT-GA c.305_306delinsTC p.K102I Missense 3/10 - 1
7-44191927-CT-GC c.305_306delinsGC p.K102S Missense 3/10 - 1
7-44191927-CTT-AAA c.304_306delinsTTT p.K102F Missense 3/10 - 1
7-44191927-CTT-ACA c.304_306delinsTGT p.K102C Missense 3/10 - 1
7-44191927-CTT-ATA c.304_306delinsTAT p.K102Y Missense 3/10 - 1
7-44191927-CTT-ATG c.304_306delinsCAT p.K102H Missense 3/10 - 1
7-44191927-CTT-GTC c.304_306delinsGAC p.K102D Missense 3/10 - 1
7-44191919-T-TGTTTGGTCTCC c.313_314insGGAGACCAAAC p.H105Rfs*15 Frameshift 3/10 - 1
7-44191928-T-A c.305A>T p.K102M Missense 3/10 - 1
7-44191928-T-C c.305A>G p.K102R Missense 3/10 - 1
7-44191928-T-G c.305A>C p.K102T Missense 3/10 - 1
7-44191928-TT-AC c.304_305delinsGT p.K102V Missense 3/10 - 1
7-44191928-TT-AG c.304_305delinsCT p.K102L Missense 3/10 - 1
7-44191928-TT-CA c.304_305delinsTG p.K102W Missense 3/10 - 1
7-44191928-TT-CC c.304_305delinsGG p.K102G Missense 3/10 - 1
7-44191928-TT-GC c.304_305delinsGC p.K102A Missense 3/10 - 1
7-44191928-TT-GG c.304_305delinsCC p.K102P Missense 3/10 - 1
7-44191929-T-A c.304A>T p.K102* Nonsense 3/10 - 1
7-44191929-T-C c.304A>G p.K102E Missense 3/10 - 1
7-44191929-T-G c.304A>C p.K102Q Missense 3/10 - 1
7-44191930-CAC-AAA c.301_303delinsTTT p.V101F Missense 3/10 - 1
7-44191930-CAC-ACA c.301_303delinsTGT p.V101C Missense 3/10 - 1
7-44191930-CAC-ATA c.301_303delinsTAT p.V101Y Missense 3/10 - 1
7-44191930-CAC-ATG c.301_303delinsCAT p.V101H Missense 3/10 - 1
7-44191930-CAC-GAT c.301_303delinsATC p.V101I Missense 3/10 - 1
7-44191930-CAC-GTT c.301_303delinsAAC p.V101N Missense 3/10 - 1
7-44191930-CA-GT c.302_303delinsAC p.V101D Missense 3/10 - 1
7-44191931-A-C c.302T>G p.V101G Missense 3/10 - 1
7-44191931-AC-CA c.301_302delinsTG p.V101W Missense 3/10 - 1
7-44191931-AC-CT c.301_302delinsAG p.V101R Missense 3/10 - 1
7-44191931-AC-GA c.301_302delinsTC p.V101S Missense 3/10 - 1
7-44191931-AC-GG c.301_302delinsCC p.V101P Missense 3/10 - 1
7-44191931-AC-GT c.301_302inv p.V101T Missense 3/10 - 1
7-44191931-AC-TG c.301_302delinsCA p.V101Q Missense 3/10 - 1
7-44191931-AC-TT c.301_302delinsAA p.V101K Missense 3/10 - 1
7-44191931-A-G c.302T>C p.V101A Missense 3/10 - 1
7-44191931-A-T c.302T>A p.V101E Missense 3/10 - 1
7-44191932-AC-A c.301del p.V101* Frameshift 3/10 - 1
7-44191932-C-A c.301G>T p.V101L Missense 3/10 - 1
7-44191932-C-G c.301G>C p.V101L Missense 3/10 - 1
7-44191932-C-T c.301G>A p.V101M Missense 3/10 - 8
7-44191933-G-A c.300C>T p.S100= Synonymous 3/10 - 4
7-44191933-G-C c.300C>G p.S100R Missense 3/10 - 1
7-44191933-GC-CA c.299_300delinsTG p.S100M Missense 3/10 - 1
7-44191933-GC-CT c.299_300delinsAG p.S100K Missense 3/10 - 1
7-44191933-GCT-CCA c.298_300delinsTGG p.S100W Missense 3/10 - 1
7-44191933-GCT-CTC c.298_300delinsGAG p.S100E Missense 3/10 - 1
7-44191933-GCT-TTG c.298_300delinsCAA p.S100Q Missense 3/10 - 1
7-44191933-G-T c.300C>A p.S100R Missense 3/10 - 1
7-44191935-T-G c.298A>C p.S100R Missense 3/10 - 1
7-44191934-C-A c.299G>T p.S100I Missense 3/10 - 1
7-44191934-C-G c.299G>C p.S100T Missense 3/10 - 1
7-44191934-C-T c.299G>A p.S100N Missense 3/10 - 1
7-44191934-CT-AA c.298_299delinsTT p.S100F Missense 3/10 - 1
7-44191934-CT-AC c.298_299delinsGT p.S100V Missense 3/10 - 1
7-44191934-CT-AG c.298_299inv p.S100L Missense 3/10 - 1
7-44191934-CT-GC c.298_299delinsGC p.S100A Missense 3/10 - 2
7-44191934-CT-GG c.298_299delinsCC p.S100P Missense 3/10 - 2
7-44191934-CT-TA c.298_299delinsTA p.S100Y Missense 3/10 - 1
7-44191934-CT-TC c.298_299delinsGA p.S100D Missense 3/10 - 2
7-44191934-CT-TG c.298_299delinsCA p.S100H Missense 3/10 - 1
7-44191935-CT-C c.298del p.S100Afs*2 Frameshift 3/10 - 1
7-44191935-T-A c.298A>T p.S100C Missense 3/10 - 1
7-44191935-T-C c.298A>G p.S100G Missense 3/10 - 2
7-44191936-C-A c.297G>T p.W99C Missense 3/10 - 7
7-44191936-CC-AA c.296_297delinsTT p.W99F Missense 3/10 - 3
7-44191936-CCA-ATG c.295_297delinsCAT p.W99H Missense 3/10 - 1
7-44191936-CCA-GAT c.295_297delinsATC p.W99I Missense 3/10 - 1
7-44191936-CCA-GTC c.295_297delinsGAC p.W99D Missense 3/10 - 1
7-44191936-CCA-GTT c.295_297delinsAAC p.W99N Missense 3/10 - 1
7-44191936-CC-AT c.296_297delinsAT p.W99Y Missense 3/10 - 1
7-44191936-C-G c.297G>C p.W99C Missense 3/10 - 5
7-44191936-C-T c.297G>A p.W99* Nonsense 3/10 - 2
7-44191937-C-A c.296G>T p.W99L Missense 3/10 - 5
7-44191937-CA-AC c.295_296delinsGT p.W99V Missense 3/10 - 1
7-44191937-CA-AT c.295_296delinsAT p.W99M Missense 3/10 - 1
7-44191937-CA-GC c.295_296delinsGC p.W99A Missense 3/10 - 1
7-44191937-CA-GG c.295_296delinsCC p.W99P Missense 3/10 - 1
7-44191937-CA-GT c.295_296delinsAC p.W99T Missense 3/10 - 1
7-44191937-CA-TC c.295_296delinsGA p.W99E Missense 3/10 - 1
7-44191937-CA-TG c.295_296inv p.W99Q Missense 3/10 - 1
7-44191937-CA-TT c.295_296delinsAA p.W99K Missense 3/10 - 1
7-44191937-C-G c.296G>C p.W99S Missense 3/10 - 1
7-44191937-C-T c.296G>A p.W99* Nonsense 3/10 - 4
7-44191938-A-C c.295T>G p.W99G Missense 3/10 - 1
7-44191938-A-G c.295T>C p.W99R Missense 3/10 - 16
7-44191938-A-T c.295T>A p.W99R Missense 3/10 - 14
7-44191938-CA-C c.295del p.W99Gfs*3 Frameshift 3/10 - 2
7-44191941-G-A c.292C>T p.Q98* Nonsense 3/10 - 3
7-44191943-C-T c.290G>A p.G97E Missense 3/10 - 1
7-44191944-C-T c.289G>A p.G97R Missense 3/10 - 1
7-44191945-C-T c.288G>A p.E96= Synonymous 3/10 - 2
7-44191946-T-G c.287A>C p.E96A Missense 3/10 - 2
7-44191947-C-T c.286G>A p.E96K Missense 3/10 - 2
7-44191951-ACC-CAT c.280_282delinsATG p.G94M Missense 3/10 - 1
7-44191951-ACC-CCA c.280_282delinsTGG p.G94W Missense 3/10 - 1
7-44191951-ACC-CTT c.280_282delinsAAG p.G94K Missense 3/10 - 1
7-44191951-AC-CT c.281_282delinsAG p.G94E Missense 3/10 - 1
7-44191951-ACC-TTG c.280_282delinsCAA p.G94Q Missense 3/10 - 1
7-44191952-C-A c.281G>T p.G94V Missense 3/10 - 1
7-44191952-CC-AA c.280_281delinsTT p.G94F Missense 3/10 - 1
7-44191952-CC-AG c.280_281delinsCT p.G94L Missense 3/10 - 1
7-44191952-CC-AT c.280_281delinsAT p.G94I Missense 3/10 - 1
7-44191952-CC-GG c.280_281inv p.G94P Missense 3/10 - 1
7-44191952-CC-GT c.280_281delinsAC p.G94T Missense 3/10 - 1
7-44191952-CC-TA c.280_281delinsTA p.G94Y Missense 3/10 - 1
7-44191952-CC-TG c.280_281delinsCA p.G94H Missense 3/10 - 1
7-44191952-CC-TT c.280_281delinsAA p.G94N Missense 3/10 - 1
7-44191952-C-G c.281G>C p.G94A Missense 3/10 - 2
7-44191952-C-T c.281G>A p.G94D Missense 3/10 - 4
7-44191953-C-A c.280G>T p.G94C Missense 3/10 - 1
7-44191953-C-G c.280G>C p.G94R Missense 3/10 - 1
7-44191953-C-T c.280G>A p.G94S Missense 3/10 - 2
7-44191954-T-A c.279A>T p.E93D Missense 3/10 - 1
7-44191954-T-G c.279A>C p.E93D Missense 3/10 - 1
7-44191954-TTC-AAA c.277_279delinsTTT p.E93F Missense 3/10 - 1
7-44191954-TTC-ACA c.277_279delinsTGT p.E93C Missense 3/10 - 1
7-44191954-TTC-ATA c.277_279delinsTAT p.E93Y Missense 3/10 - 1
7-44191954-TTC-ATG c.277_279delinsCAT p.E93H Missense 3/10 - 1
7-44191954-TTC-CAT c.277_279delinsATG p.E93M Missense 3/10 - 1
7-44191954-TTC-CCA c.277_279delinsTGG p.E93W Missense 3/10 - 1
7-44191954-TTC-GTT c.277_279delinsAAC p.E93N Missense 3/10 - 1
7-44191955-T-A c.278A>T p.E93V Missense 3/10 - 1
7-44191955-T-C c.278A>G p.E93G Missense 3/10 - 1
7-44191955-TC-AG c.277_278delinsCT p.E93L Missense 3/10 - 1
7-44191955-TC-AT c.277_278delinsAT p.E93I Missense 3/10 - 1
7-44191955-TC-CT c.277_278delinsAG p.E93R Missense 3/10 - 1
7-44191955-TC-GA c.277_278inv p.E93S Missense 3/10 - 1
7-44191955-TC-GG c.277_278delinsCC p.E93P Missense 3/10 - 1
7-44191955-TC-GT c.277_278delinsAC p.E93T Missense 3/10 - 1
7-44191955-T-G c.278A>C p.E93A Missense 3/10 - 1
7-44191956-C-G c.277G>C p.E93Q Missense 3/10 - 1
7-44191956-C-T c.277G>A p.E93K Missense 3/10 - 1
7-44191957-TCC-AAA c.274_276delinsTTT p.G92F Missense 3/10 - 1
7-44191957-TCC-ACA c.274_276delinsTGT p.G92C Missense 3/10 - 1
7-44191957-TCC-ATA c.274_276delinsTAT p.G92Y Missense 3/10 - 1
7-44191957-TCC-ATG c.274_276delinsCAT p.G92H Missense 3/10 - 1
7-44191957-TCC-CAT c.274_276delinsATG p.G92M Missense 3/10 - 1
7-44191957-TCC-CCA c.274_276delinsTGG p.G92W Missense 3/10 - 1
7-44191957-TCC-GCT c.274_276delinsAGC p.G92S Missense 3/10 - 1
7-44191957-TCC-GTT c.274_276delinsAAC p.G92N Missense 3/10 - 1
7-44191957-TC-GT c.275_276delinsAC p.G92D Missense 3/10 - 1
7-44191958-C-A c.275G>T p.G92V Missense 3/10 - 1
7-44191958-CC-AG c.274_275delinsCT p.G92L Missense 3/10 - 1
7-44191958-CC-AT c.274_275delinsAT p.G92I Missense 3/10 - 1
7-44191958-CC-GG c.274_275inv p.G92P Missense 3/10 - 1
7-44191958-CC-GT c.274_275delinsAC p.G92T Missense 3/10 - 1
7-44191958-CC-TG c.274_275delinsCA p.G92Q Missense 3/10 - 1
7-44191958-CC-TT c.274_275delinsAA p.G92K Missense 3/10 - 1
7-44191958-C-G c.275G>C p.G92A Missense 3/10 - 1
7-44191958-C-T c.275G>A p.G92E Missense 3/10 - 4
7-44191959-C-A c.274G>T p.G92* Nonsense 3/10 - 1
7-44191959-C-G c.274G>C p.G92R Missense 3/10 - 1
7-44191959-C-T c.274G>A p.G92R Missense 3/10 - 1
7-44191957-TCCCACCTTCA-T c.266_275del p.V89Efs*10 Frameshift 3/10 - 1
7-44191960-CAC-AAA c.271_273delinsTTT p.V91F Missense 3/10 - 1
7-44191960-CAC-ACA c.271_273delinsTGT p.V91C Missense 3/10 - 1
7-44191960-CAC-ATA c.271_273delinsTAT p.V91Y Missense 3/10 - 1
7-44191960-CAC-ATG c.271_273delinsCAT p.V91H Missense 3/10 - 1
7-44191960-CAC-GAT c.271_273delinsATC p.V91I Missense 3/10 - 1
7-44191960-CAC-GTT c.271_273delinsAAC p.V91N Missense 3/10 - 1
7-44191960-CA-GT c.272_273delinsAC p.V91D Missense 3/10 - 1
7-44191960-C-G c.273G>C p.V91= Synonymous 3/10 - 2
7-44191960-C-T c.273G>A p.V91= Synonymous 3/10 - 2
7-44191961-A-C c.272T>G p.V91G Missense 3/10 - 1
7-44191961-AC-CA c.271_272delinsTG p.V91W Missense 3/10 - 1
7-44191961-AC-CT c.271_272delinsAG p.V91R Missense 3/10 - 1
7-44191961-AC-GA c.271_272delinsTC p.V91S Missense 3/10 - 1
7-44191961-AC-GG c.271_272delinsCC p.V91P Missense 3/10 - 1
7-44191961-AC-GT c.271_272inv p.V91T Missense 3/10 - 1
7-44191961-AC-TG c.271_272delinsCA p.V91Q Missense 3/10 - 1
7-44191961-AC-TT c.271_272delinsAA p.V91K Missense 3/10 - 1
7-44191961-A-G c.272T>C p.V91A Missense 3/10 - 1
7-44191961-A-T c.272T>A p.V91E Missense 3/10 - 1
7-44191962-C-A c.271G>T p.V91L Missense 3/10 - 10
7-44191962-C-G c.271G>C p.V91L Missense 3/10 - 10
7-44191962-C-T c.271G>A p.V91M Missense 3/10 - 1
7-44191963-C-A c.270G>T p.K90N Missense 3/10 - 2
7-44191963-C-G c.270G>C p.K90N Missense 3/10 - 1
7-44191963-C-T c.270G>A p.K90= Synonymous 3/10 - 1
7-44191963-CT-GA c.269_270delinsTC p.K90I Missense 3/10 - 1
7-44191963-CT-GC c.269_270delinsGC p.K90S Missense 3/10 - 1
7-44191963-CTT-AAA c.268_270delinsTTT p.K90F Missense 3/10 - 1
7-44191963-CTT-ACA c.268_270delinsTGT p.K90C Missense 3/10 - 1
7-44191963-CTT-ATA c.268_270delinsTAT p.K90Y Missense 3/10 - 1
7-44191963-CTT-ATG c.268_270delinsCAT p.K90H Missense 3/10 - 1
7-44191963-CTT-GTC c.268_270delinsGAC p.K90D Missense 3/10 - 1
7-44191964-T-A c.269A>T p.K90M Missense 3/10 - 1
7-44191964-T-C c.269A>G p.K90R Missense 3/10 - 5
7-44191964-T-G c.269A>C p.K90T Missense 3/10 - 2
7-44191964-TT-AC c.268_269delinsGT p.K90V Missense 3/10 - 1
7-44191964-TT-AG c.268_269delinsCT p.K90L Missense 3/10 - 1
7-44191964-TT-CA c.268_269delinsTG p.K90W Missense 3/10 - 1
7-44191964-TT-CC c.268_269delinsGG p.K90G Missense 3/10 - 1
7-44191964-TT-GC c.268_269delinsGC p.K90A Missense 3/10 - 1
7-44191964-TT-GG c.268_269delinsCC p.K90P Missense 3/10 - 1
7-44191963-CT-C c.269del p.K90Rfs*12 Frameshift 3/10 - 1
7-44191965-T-A c.268A>T p.K90* Nonsense 3/10 - 1
7-44191965-T-C c.268A>G p.K90E Missense 3/10 - 1
7-44191965-T-G c.268A>C p.K90Q Missense 3/10 - 1
7-44191966-CAC-AAA c.265_267delinsTTT p.V89F Missense 3/10 - 1
7-44191966-CAC-ACA c.265_267delinsTGT p.V89C Missense 3/10 - 1
7-44191966-CAC-ATA c.265_267delinsTAT p.V89Y Missense 3/10 - 1
7-44191966-CAC-ATG c.265_267delinsCAT p.V89H Missense 3/10 - 1
7-44191966-CAC-GAT c.265_267delinsATC p.V89I Missense 3/10 - 1
7-44191966-CAC-GTT c.265_267delinsAAC p.V89N Missense 3/10 - 1
7-44191966-CA-GT c.266_267delinsAC p.V89D Missense 3/10 - 1
7-44191967-A-C c.266T>G p.V89G Missense 3/10 - 1
7-44191967-AC-CA c.265_266delinsTG p.V89W Missense 3/10 - 1
7-44191967-AC-CT c.265_266delinsAG p.V89R Missense 3/10 - 1
7-44191967-AC-GA c.265_266delinsTC p.V89S Missense 3/10 - 1
7-44191967-AC-GG c.265_266delinsCC p.V89P Missense 3/10 - 1
7-44191967-AC-GT c.265_266inv p.V89T Missense 3/10 - 1
7-44191967-AC-TG c.265_266delinsCA p.V89Q Missense 3/10 - 1
7-44191967-AC-TT c.265_266delinsAA p.V89K Missense 3/10 - 1
7-44191967-A-G c.266T>C p.V89A Missense 3/10 - 1
7-44191967-A-T c.266T>A p.V89E Missense 3/10 - 1
7-44191968-C-A c.265G>T p.V89L Missense 3/10 - 1
7-44191968-C-G c.265G>C p.V89L Missense 3/10 - 1
7-44191968-C-T c.265G>A p.V89M Missense 3/10 - 1
7-44191969-CA-AT c.263_264delinsAT p.L88H Missense 3/10 - 1
7-44191969-CAG-AAA c.262_264delinsTTT p.L88F Missense 3/10 - 1
7-44191969-CAG-ACA c.262_264delinsTGT p.L88C Missense 3/10 - 1
7-44191969-CAG-ATA c.262_264delinsTAT p.L88Y Missense 3/10 - 1
7-44191969-CAG-GAT c.262_264delinsATC p.L88I Missense 3/10 - 2
7-44191969-CAG-GTC c.262_264delinsGAC p.L88D Missense 3/10 - 1
7-44191969-CAG-GTT c.262_264delinsAAC p.L88N Missense 3/10 - 1
7-44191969-C-T c.264G>A p.L88= Synonymous 3/10 - 3
7-44191970-A-C c.263T>G p.L88R Missense 3/10 - 1
7-44191970-A-G c.263T>C p.L88P Missense 3/10 - 1
7-44191970-AG-CA c.262_263delinsTG p.L88W Missense 3/10 - 1
7-44191970-AG-CC c.262_263delinsGG p.L88G Missense 3/10 - 1
7-44191970-AG-GA c.262_263delinsTC p.L88S Missense 3/10 - 1
7-44191970-AG-GC c.262_263delinsGC p.L88A Missense 3/10 - 1
7-44191970-AG-GT c.262_263delinsAC p.L88T Missense 3/10 - 1
7-44191970-AG-TC c.262_263delinsGA p.L88E Missense 3/10 - 1
7-44191970-AG-TT c.262_263delinsAA p.L88K Missense 3/10 - 1
7-44191970-A-T c.263T>A p.L88Q Missense 3/10 - 1
7-44191971-G-C c.262C>G p.L88V Missense 3/10 - 1
7-44191971-G-T c.262C>A p.L88M Missense 3/10 - 1
7-44191972-C-A c.261G>T p.M87I Missense 3/10 - 1
7-44191972-CA-GC c.260_261delinsGC p.M87S Missense 3/10 - 1
7-44191972-CA-GT c.260_261delinsAC p.M87N Missense 3/10 - 1
7-44191972-CAT-AAA c.259_261delinsTTT p.M87F Missense 3/10 - 1
7-44191972-CAT-ACA c.259_261delinsTGT p.M87C Missense 3/10 - 1
7-44191972-CAT-ATA c.259_261delinsTAT p.M87Y Missense 3/10 - 1
7-44191972-CAT-ATG c.259_261inv p.M87H Missense 3/10 - 1
7-44191972-CAT-GTC c.259_261delinsGAC p.M87D Missense 3/10 - 1
7-44191972-C-G c.261G>C p.M87I Missense 3/10 - 1
7-44191972-C-T c.261G>A p.M87I Missense 3/10 - 1
7-44191973-A-C c.260T>G p.M87R Missense 3/10 - 1
7-44191973-A-G c.260T>C p.M87T Missense 3/10 - 1
7-44191973-A-T c.260T>A p.M87K Missense 3/10 - 1
7-44191973-AT-CA c.259_260delinsTG p.M87W Missense 3/10 - 1
7-44191973-AT-CC c.259_260delinsGG p.M87G Missense 3/10 - 1
7-44191973-AT-GC c.259_260delinsGC p.M87A Missense 3/10 - 1
7-44191973-AT-GG c.259_260delinsCC p.M87P Missense 3/10 - 1
7-44191973-AT-TC c.259_260delinsGA p.M87E Missense 3/10 - 1
7-44191973-AT-TG c.259_260delinsCA p.M87Q Missense 3/10 - 1
7-44191974-T-A c.259A>T p.M87L Missense 3/10 - 1
7-44191974-T-C c.259A>G p.M87V Missense 3/10 - 1
7-44191974-T-G c.259A>C p.M87L Missense 3/10 - 1
7-44191975-CAC-AAA c.256_258delinsTTT p.V86F Missense 3/10 - 1
7-44191975-CAC-ACA c.256_258delinsTGT p.V86C Missense 3/10 - 1
7-44191975-CAC-ATA c.256_258delinsTAT p.V86Y Missense 3/10 - 1
7-44191975-CAC-ATG c.256_258delinsCAT p.V86H Missense 3/10 - 1
7-44191975-CAC-GAT c.256_258delinsATC p.V86I Missense 3/10 - 1
7-44191975-CAC-GTT c.256_258delinsAAC p.V86N Missense 3/10 - 1
7-44191975-CA-GT c.257_258delinsAC p.V86D Missense 3/10 - 1
7-44191976-A-C c.257T>G p.V86G Missense 3/10 - 1
7-44191976-AC-CA c.256_257delinsTG p.V86W Missense 3/10 - 1
7-44191976-AC-CT c.256_257delinsAG p.V86R Missense 3/10 - 1
7-44191976-AC-GA c.256_257delinsTC p.V86S Missense 3/10 - 1
7-44191976-AC-GG c.256_257delinsCC p.V86P Missense 3/10 - 1
7-44191976-AC-GT c.256_257inv p.V86T Missense 3/10 - 1
7-44191976-AC-TG c.256_257delinsCA p.V86Q Missense 3/10 - 1
7-44191976-AC-TT c.256_257delinsAA p.V86K Missense 3/10 - 1
7-44191976-A-G c.257T>C p.V86A Missense 3/10 - 2
7-44191976-A-T c.257T>A p.V86E Missense 3/10 - 1
7-44191977-C-A c.256G>T p.V86L Missense 3/10 - 1
7-44191977-C-G c.256G>C p.V86L Missense 3/10 - 1
7-44191977-C-T c.256G>A p.V86M Missense 3/10 - 1
7-44191978-C-A c.255G>T p.R85S Missense 3/10 - 1
7-44191978-CC-GA c.254_255delinsTC p.R85I Missense 3/10 - 1
7-44191978-CC-GT c.254_255delinsAC p.R85N Missense 3/10 - 1
7-44191978-CCT-AAA c.253_255delinsTTT p.R85F Missense 3/10 - 1
7-44191978-CCT-ACA c.253_255delinsTGT p.R85C Missense 3/10 - 2
7-44191978-CCT-ATA c.253_255delinsTAT p.R85Y Missense 3/10 - 1
7-44191978-CCT-ATG c.253_255delinsCAT p.R85H Missense 3/10 - 2
7-44191978-CCT-GTC c.253_255delinsGAC p.R85D Missense 3/10 - 1
7-44191978-C-G c.255G>C p.R85S Missense 3/10 - 1
7-44191979-C-A c.254G>T p.R85M Missense 3/10 - 1
7-44191979-C-G c.254G>C p.R85T Missense 3/10 - 1
7-44191979-C-T c.254G>A p.R85K Missense 3/10 - 1
7-44191979-CT-AC c.253_254delinsGT p.R85V Missense 3/10 - 1
7-44191979-CT-AG c.253_254inv p.R85L Missense 3/10 - 1
7-44191979-CT-GC c.253_254delinsGC p.R85A Missense 3/10 - 1
7-44191979-CT-GG c.253_254delinsCC p.R85P Missense 3/10 - 1
7-44191979-CT-TC c.253_254delinsGA p.R85E Missense 3/10 - 1
7-44191979-CT-TG c.253_254delinsCA p.R85Q Missense 3/10 - 1
7-44191980-T-A c.253A>T p.R85W Missense 3/10 - 5
7-44191980-T-C c.253A>G p.R85G Missense 3/10 - 2
7-44191981-G-A c.252C>T p.F84= Synonymous 3/10 - 1
7-44191981-GAA-CAT c.250_252delinsATG p.F84M Missense 3/10 - 1
7-44191981-GAA-CTC c.250_252delinsGAG p.F84E Missense 3/10 - 1
7-44191981-GAA-CTT c.250_252delinsAAG p.F84K Missense 3/10 - 1
7-44191981-GAA-TTG c.250_252delinsCAA p.F84Q Missense 3/10 - 1
7-44191981-GA-CC c.251_252delinsGG p.F84W Missense 3/10 - 1
7-44191982-AA-CC c.250_251delinsGG p.F84G Missense 3/10 - 1
7-44191982-AA-CG c.250_251delinsCG p.F84R Missense 3/10 - 1
7-44191982-AA-GC c.250_251delinsGC p.F84A Missense 3/10 - 1
7-44191982-AA-GG c.250_251delinsCC p.F84P Missense 3/10 - 1
7-44191982-AA-GT c.250_251delinsAC p.F84T Missense 3/10 - 1
7-44191982-AA-TC c.250_251delinsGA p.F84D Missense 3/10 - 1
7-44191982-AA-TG c.250_251delinsCA p.F84H Missense 3/10 - 1
7-44191982-AA-TT c.250_251inv p.F84N Missense 3/10 - 1
7-44191982-A-C c.251T>G p.F84C Missense 3/10 - 1
7-44191982-A-G c.251T>C p.F84S Missense 3/10 - 1
7-44191982-A-T c.251T>A p.F84Y Missense 3/10 - 1
7-44191981-G-C c.252C>G p.F84L Missense 3/10 - 1
7-44191981-G-T c.252C>A p.F84L Missense 3/10 - 1
7-44191983-A-C c.250T>G p.F84V Missense 3/10 - 2
7-44191983-A-G c.250T>C p.F84L Missense 3/10 - 1
7-44191983-A-T c.250T>A p.F84I Missense 3/10 - 1
7-44191984-G-A c.249C>T p.N83= Synonymous 3/10 - 1
7-44191984-G-C c.249C>G p.N83K Missense 3/10 - 1
7-44191984-G-T c.249C>A p.N83K Missense 3/10 - 1
7-44191984-GT-CA c.248_249delinsTG p.N83M Missense 3/10 - 1
7-44191984-GT-CC c.248_249delinsGG p.N83R Missense 3/10 - 1
7-44191984-GTT-CCA c.247_249delinsTGG p.N83W Missense 3/10 - 1
7-44191984-GTT-CTC c.247_249delinsGAG p.N83E Missense 3/10 - 1
7-44191984-GTT-TTG c.247_249delinsCAA p.N83Q Missense 3/10 - 1
7-44191985-T-A c.248A>T p.N83I Missense 3/10 - 1
7-44191985-T-C c.248A>G p.N83S Missense 3/10 - 1
7-44191985-T-G c.248A>C p.N83T Missense 3/10 - 1
7-44191985-TT-AA c.247_248inv p.N83F Missense 3/10 - 1
7-44191985-TT-AC c.247_248delinsGT p.N83V Missense 3/10 - 1
7-44191985-TT-AG c.247_248delinsCT p.N83L Missense 3/10 - 1
7-44191985-TT-CA c.247_248delinsTG p.N83C Missense 3/10 - 1
7-44191985-TT-CC c.247_248delinsGG p.N83G Missense 3/10 - 1
7-44191985-TT-GC c.247_248delinsGC p.N83A Missense 3/10 - 1
7-44191985-TT-GG c.247_248delinsCC p.N83P Missense 3/10 - 1
7-44191986-T-A c.247A>T p.N83Y Missense 3/10 - 1
7-44191986-T-C c.247A>G p.N83D Missense 3/10 - 1
7-44191986-T-G c.247A>C p.N83H Missense 3/10 - 1
7-44191987-AG-CA c.245_246delinsTG p.T82M Missense 3/10 - 1
7-44191987-AG-CC c.245_246delinsGG p.T82R Missense 3/10 - 1
7-44191987-AG-CT c.245_246inv p.T82K Missense 3/10 - 1
7-44191987-AGT-CCA c.244_246delinsTGG p.T82W Missense 3/10 - 1
7-44191987-AGT-CTC c.244_246delinsGAG p.T82E Missense 3/10 - 1
7-44191987-AGT-TTG c.244_246delinsCAA p.T82Q Missense 3/10 - 1
7-44191988-G-A c.245C>T p.T82I Missense 3/10 - 4
7-44191988-G-C c.245C>G p.T82S Missense 3/10 - 2
7-44191988-G-T c.245C>A p.T82N Missense 3/10 - 1
7-44191988-GT-AA c.244_245delinsTT p.T82F Missense 3/10 - 1
7-44191988-GT-AC c.244_245inv p.T82V Missense 3/10 - 1
7-44191988-GT-AG c.244_245delinsCT p.T82L Missense 3/10 - 1
7-44191988-GT-CA c.244_245delinsTG p.T82C Missense 3/10 - 1
7-44191988-GT-CC c.244_245delinsGG p.T82G Missense 3/10 - 1
7-44191988-GT-TA c.244_245delinsTA p.T82Y Missense 3/10 - 1
7-44191988-GT-TC c.244_245delinsGA p.T82D Missense 3/10 - 1
7-44191988-GT-TG c.244_245delinsCA p.T82H Missense 3/10 - 1
7-44191989-T-A c.244A>T p.T82S Missense 3/10 - 2
7-44191989-T-C c.244A>G p.T82A Missense 3/10 - 2
7-44191989-T-G c.244A>C p.T82P Missense 3/10 - 3
7-44191990-GCC-CAT c.241_243delinsATG p.G81M Missense 3/10 - 1
7-44191990-GCC-CCA c.241_243delinsTGG p.G81W Missense 3/10 - 1
7-44191990-GCC-CTT c.241_243delinsAAG p.G81K Missense 3/10 - 1
7-44191990-GC-CT c.242_243delinsAG p.G81E Missense 3/10 - 1
7-44191990-GCC-TTG c.241_243delinsCAA p.G81Q Missense 3/10 - 1
7-44191991-C-A c.242G>T p.G81V Missense 3/10 - 1
7-44191991-CC-AA c.241_242delinsTT p.G81F Missense 3/10 - 1
7-44191991-CC-AG c.241_242delinsCT p.G81L Missense 3/10 - 1
7-44191991-CC-AT c.241_242delinsAT p.G81I Missense 3/10 - 1
7-44191991-CC-GG c.241_242inv p.G81P Missense 3/10 - 1
7-44191991-CC-GT c.241_242delinsAC p.G81T Missense 3/10 - 1
7-44191991-CC-TA c.241_242delinsTA p.G81Y Missense 3/10 - 1
7-44191991-CC-TG c.241_242delinsCA p.G81H Missense 3/10 - 1
7-44191991-CC-TT c.241_242delinsAA p.G81N Missense 3/10 - 1
7-44191991-C-G c.242G>C p.G81A Missense 3/10 - 1
7-44191991-C-T c.242G>A p.G81D Missense 3/10 - 2
7-44191992-C-A c.241G>T p.G81C Missense 3/10 - 3
7-44191992-C-G c.241G>C p.G81R Missense 3/10 - 1
7-44191992-C-T c.241G>A p.G81S Missense 3/10 - 4
7-44191993-ACC-CAT c.238_240delinsATG p.G80M Missense 3/10 - 1
7-44191993-ACC-CCA c.238_240delinsTGG p.G80W Missense 3/10 - 1
7-44191993-ACC-CTT c.238_240delinsAAG p.G80K Missense 3/10 - 1
7-44191993-AC-CT c.239_240delinsAG p.G80E Missense 3/10 - 1
7-44191993-ACC-TTG c.238_240delinsCAA p.G80Q Missense 3/10 - 1
7-44191994-C-A c.239G>T p.G80V Missense 3/10 - 3
7-44191994-CC-AA c.238_239delinsTT p.G80F Missense 3/10 - 1
7-44191994-CC-AG c.238_239delinsCT p.G80L Missense 3/10 - 1
7-44191994-CC-AT c.238_239delinsAT p.G80I Missense 3/10 - 1
7-44191994-CC-GG c.238_239inv p.G80P Missense 3/10 - 1
7-44191994-CC-GT c.238_239delinsAC p.G80T Missense 3/10 - 1
7-44191994-CC-TA c.238_239delinsTA p.G80Y Missense 3/10 - 1
7-44191994-CC-TG c.238_239delinsCA p.G80H Missense 3/10 - 1
7-44191994-CC-TT c.238_239delinsAA p.G80N Missense 3/10 - 1
7-44191994-C-G c.239G>C p.G80A Missense 3/10 - 4
7-44191994-C-T c.239G>A p.G80D Missense 3/10 - 2
7-44191995-C-A c.238G>T p.G80C Missense 3/10 - 1
7-44191995-C-G c.238G>C p.G80R Missense 3/10 - 2
7-44191995-C-T c.238G>A p.G80S Missense 3/10 - 13
7-44191996-C-A c.237G>T p.L79= Synonymous 3/10 - 2
7-44191996-CA-AT c.236_237delinsAT p.L79H Missense 3/10 - 1
7-44191996-CAG-AAA c.235_237delinsTTT p.L79F Missense 3/10 - 1
7-44191996-CAG-ACA c.235_237delinsTGT p.L79C Missense 3/10 - 1
7-44191996-CAG-ATA c.235_237delinsTAT p.L79Y Missense 3/10 - 1
7-44191996-CAG-GAT c.235_237delinsATC p.L79I Missense 3/10 - 2
7-44191996-CAG-GTC c.235_237delinsGAC p.L79D Missense 3/10 - 1
7-44191996-CAG-GTT c.235_237delinsAAC p.L79N Missense 3/10 - 1
7-44191996-C-G c.237G>C p.L79= Synonymous 3/10 - 3
7-44191996-C-T c.237G>A p.L79= Synonymous 3/10 - 3
7-44191998-G-A c.235C>T p.L79= Synonymous 3/10 - 2
7-44191997-A-C c.236T>G p.L79R Missense 3/10 - 1
7-44191997-A-G c.236T>C p.L79P Missense 3/10 - 2
7-44191997-AG-CA c.235_236delinsTG p.L79W Missense 3/10 - 1
7-44191997-AG-CC c.235_236delinsGG p.L79G Missense 3/10 - 1
7-44191997-AG-GA c.235_236delinsTC p.L79S Missense 3/10 - 1
7-44191997-AG-GC c.235_236delinsGC p.L79A Missense 3/10 - 1
7-44191997-AG-GT c.235_236delinsAC p.L79T Missense 3/10 - 1
7-44191997-AG-TC c.235_236delinsGA p.L79E Missense 3/10 - 1
7-44191997-AG-TT c.235_236delinsAA p.L79K Missense 3/10 - 1
7-44191997-A-T c.236T>A p.L79Q Missense 3/10 - 1
7-44191998-G-C c.235C>G p.L79V Missense 3/10 - 2
7-44191998-G-T c.235C>A p.L79M Missense 3/10 - 1
7-44191999-G-C c.234C>G p.D78E Missense 3/10 - 5
7-44191999-G-T c.234C>A p.D78E Missense 3/10 - 2
7-44191999-GTC-CAT c.232_234delinsATG p.D78M Missense 3/10 - 1
7-44191999-GTC-CCA c.232_234delinsTGG p.D78W Missense 3/10 - 1
7-44191999-GTC-CTT c.232_234delinsAAG p.D78K Missense 3/10 - 1
7-44191999-GTC-TTG c.232_234delinsCAA p.D78Q Missense 3/10 - 1
7-44192000-T-A c.233A>T p.D78V Missense 3/10 - 1
7-44192000-T-C c.233A>G p.D78G Missense 3/10 - 2
7-44192000-TC-AA c.232_233delinsTT p.D78F Missense 3/10 - 2
7-44192000-TC-AG c.232_233delinsCT p.D78L Missense 3/10 - 1
7-44192000-TC-AT c.232_233delinsAT p.D78I Missense 3/10 - 1
7-44192000-TC-CA c.232_233delinsTG p.D78C Missense 3/10 - 1
7-44192000-TC-CG c.232_233delinsCG p.D78R Missense 3/10 - 1
7-44192000-TC-CT c.232_233delinsAG p.D78S Missense 3/10 - 1
7-44192000-TC-GG c.232_233delinsCC p.D78P Missense 3/10 - 1
7-44192000-TC-GT c.232_233delinsAC p.D78T Missense 3/10 - 1
7-44192000-T-G c.233A>C p.D78A Missense 3/10 - 1
7-44192001-C-A c.232G>T p.D78Y Missense 3/10 - 1
7-44192001-C-G c.232G>C p.D78H Missense 3/10 - 3
7-44192001-C-T c.232G>A p.D78N Missense 3/10 - 3
7-44192002-CA-AT c.230_231delinsAT p.L77H Missense 3/10 - 1
7-44192002-CAG-AAA c.229_231delinsTTT p.L77F Missense 3/10 - 1
7-44192002-CAG-ACA c.229_231delinsTGT p.L77C Missense 3/10 - 1
7-44192002-CAG-ATA c.229_231delinsTAT p.L77Y Missense 3/10 - 1
7-44192002-CAG-GAT c.229_231delinsATC p.L77I Missense 3/10 - 2
7-44192002-CAG-GTC c.229_231delinsGAC p.L77D Missense 3/10 - 1
7-44192002-CAG-GTT c.229_231delinsAAC p.L77N Missense 3/10 - 1
7-44192003-A-C c.230T>G p.L77R Missense 3/10 - 2
7-44192003-A-G c.230T>C p.L77P Missense 3/10 - 4
7-44192003-AG-CA c.229_230delinsTG p.L77W Missense 3/10 - 1
7-44192003-AG-CC c.229_230delinsGG p.L77G Missense 3/10 - 1
7-44192003-AG-GA c.229_230delinsTC p.L77S Missense 3/10 - 1
7-44192003-AG-GC c.229_230delinsGC p.L77A Missense 3/10 - 1
7-44192003-AG-GT c.229_230delinsAC p.L77T Missense 3/10 - 1
7-44192003-AG-TC c.229_230delinsGA p.L77E Missense 3/10 - 1
7-44192003-AG-TT c.229_230delinsAA p.L77K Missense 3/10 - 1
7-44192003-A-T c.230T>A p.L77Q Missense 3/10 - 1
7-44192004-G-C c.229C>G p.L77V Missense 3/10 - 1
7-44192004-G-T c.229C>A p.L77M Missense 3/10 - 1
7-44192005-G-A c.228C>T p.S76= Synonymous 3/10 - 2
7-44192005-G-C c.228C>G p.S76= Synonymous 3/10 - 1
7-44192005-GGA-CAT c.226_228delinsATG p.S76M Missense 3/10 - 1
7-44192005-GGA-CTC c.226_228delinsGAG p.S76E Missense 3/10 - 1
7-44192005-GGA-CTT c.226_228delinsAAG p.S76K Missense 3/10 - 1
7-44192005-GGA-TTG c.226_228delinsCAA p.S76Q Missense 3/10 - 1
7-44192005-GG-CC c.227_228inv p.S76W Missense 3/10 - 1
7-44192005-G-T c.228C>A p.S76= Synonymous 3/10 - 1
7-44192006-G-A c.227C>T p.S76F Missense 3/10 - 6
7-44192006-GA-AC c.226_227delinsGT p.S76V Missense 3/10 - 1
7-44192006-GA-AG c.226_227delinsCT p.S76L Missense 3/10 - 1
7-44192006-GA-AT c.226_227delinsAT p.S76I Missense 3/10 - 1
7-44192006-GA-CC c.226_227delinsGG p.S76G Missense 3/10 - 1
7-44192006-GA-CG c.226_227delinsCG p.S76R Missense 3/10 - 1
7-44192006-GA-TC c.226_227inv p.S76D Missense 3/10 - 1
7-44192006-GA-TG c.226_227delinsCA p.S76H Missense 3/10 - 1
7-44192006-GA-TT c.226_227delinsAA p.S76N Missense 3/10 - 1
7-44192006-G-C c.227C>G p.S76C Missense 3/10 - 1
7-44192006-G-T c.227C>A p.S76Y Missense 3/10 - 2
7-44192007-A-C c.226T>G p.S76A Missense 3/10 - 1
7-44192007-A-G c.226T>C p.S76P Missense 3/10 - 2
7-44192007-A-T c.226T>A p.S76T Missense 3/10 - 1
7-44192008-GAG-CAT c.223_225delinsATG p.L75M Missense 3/10 - 2
7-44192008-GAG-CCA c.223_225delinsTGG p.L75W Missense 3/10 - 1
7-44192008-GAG-CTC c.223_225inv p.L75E Missense 3/10 - 1
7-44192008-GAG-CTT c.223_225delinsAAG p.L75K Missense 3/10 - 1
7-44192008-GA-TT c.224_225delinsAA p.L75Q Missense 3/10 - 1
7-44192009-A-C c.224T>G p.L75R Missense 3/10 - 1
7-44192009-A-G c.224T>C p.L75P Missense 3/10 - 1
7-44192009-AG-CA c.223_224delinsTG p.L75C Missense 3/10 - 1
7-44192009-AG-CC c.223_224delinsGG p.L75G Missense 3/10 - 1
7-44192009-AG-CT c.223_224inv p.L75S Missense 3/10 - 1
7-44192009-AG-GC c.223_224delinsGC p.L75A Missense 3/10 - 1
7-44192009-AG-GT c.223_224delinsAC p.L75T Missense 3/10 - 1
7-44192009-AG-TA c.223_224delinsTA p.L75Y Missense 3/10 - 1
7-44192009-AG-TC c.223_224delinsGA p.L75D Missense 3/10 - 1
7-44192009-AG-TT c.223_224delinsAA p.L75N Missense 3/10 - 1
7-44192009-A-T c.224T>A p.L75H Missense 3/10 - 1
7-44192010-G-A c.223C>T p.L75F Missense 3/10 - 1
7-44192010-G-C c.223C>G p.L75V Missense 3/10 - 1
7-44192010-G-T c.223C>A p.L75I Missense 3/10 - 1
7-44192011-GAA-CAT c.220_222delinsATG p.F74M Missense 3/10 - 1
7-44192011-GAA-CTC c.220_222delinsGAG p.F74E Missense 3/10 - 1
7-44192011-GAA-CTT c.220_222delinsAAG p.F74K Missense 3/10 - 1
7-44192011-GAA-TTG c.220_222delinsCAA p.F74Q Missense 3/10 - 1
7-44192011-GA-CC c.221_222delinsGG p.F74W Missense 3/10 - 1
7-44192012-AA-CC c.220_221delinsGG p.F74G Missense 3/10 - 1
7-44192012-AA-CG c.220_221delinsCG p.F74R Missense 3/10 - 1
7-44192012-AA-GC c.220_221delinsGC p.F74A Missense 3/10 - 1
7-44192012-AA-GG c.220_221delinsCC p.F74P Missense 3/10 - 1
7-44192012-AA-GT c.220_221delinsAC p.F74T Missense 3/10 - 1
7-44192012-AA-TC c.220_221delinsGA p.F74D Missense 3/10 - 1
7-44192012-AA-TG c.220_221delinsCA p.F74H Missense 3/10 - 1
7-44192012-AA-TT c.220_221inv p.F74N Missense 3/10 - 1
7-44192012-A-C c.221T>G p.F74C Missense 3/10 - 1
7-44192012-A-G c.221T>C p.F74S Missense 3/10 - 1
7-44192012-A-T c.221T>A p.F74Y Missense 3/10 - 1
7-44192011-G-C c.222C>G p.F74L Missense 3/10 - 1
7-44192011-G-T c.222C>A p.F74L Missense 3/10 - 1
7-44192013-A-C c.220T>G p.F74V Missense 3/10 - 1
7-44192013-A-G c.220T>C p.F74L Missense 3/10 - 1
7-44192013-A-T c.220T>A p.F74I Missense 3/10 - 3
7-44192014-G-C c.219C>G p.D73E Missense 3/10 - 3
7-44192014-G-T c.219C>A p.D73E Missense 3/10 - 3
7-44192014-GTC-CAT c.217_219delinsATG p.D73M Missense 3/10 - 1
7-44192014-GTC-CCA c.217_219delinsTGG p.D73W Missense 3/10 - 1
7-44192014-GTC-CTT c.217_219delinsAAG p.D73K Missense 3/10 - 1
7-44192014-GTC-TTG c.217_219delinsCAA p.D73Q Missense 3/10 - 1
7-44192015-T-A c.218A>T p.D73V Missense 3/10 - 1
7-44192015-T-C c.218A>G p.D73G Missense 3/10 - 3
7-44192015-TC-AA c.217_218delinsTT p.D73F Missense 3/10 - 1
7-44192015-TC-AG c.217_218delinsCT p.D73L Missense 3/10 - 1
7-44192015-TC-AT c.217_218delinsAT p.D73I Missense 3/10 - 1
7-44192015-TC-CA c.217_218delinsTG p.D73C Missense 3/10 - 1
7-44192015-TC-CG c.217_218delinsCG p.D73R Missense 3/10 - 1
7-44192015-TC-CT c.217_218delinsAG p.D73S Missense 3/10 - 1
7-44192015-TC-GG c.217_218delinsCC p.D73P Missense 3/10 - 1
7-44192015-TC-GT c.217_218delinsAC p.D73T Missense 3/10 - 1
7-44192015-T-G c.218A>C p.D73A Missense 3/10 - 1
7-44192016-C-A c.217G>T p.D73Y Missense 3/10 - 1
7-44192016-C-G c.217G>C p.D73H Missense 3/10 - 1
7-44192016-C-T c.217G>A p.D73N Missense 3/10 - 5
7-44192017-CCC-AAA c.214_216delinsTTT p.G72F Missense 3/10 - 1
7-44192017-CCC-ACA c.214_216delinsTGT p.G72C Missense 3/10 - 1
7-44192017-CCC-ATA c.214_216delinsTAT p.G72Y Missense 3/10 - 1
7-44192017-CCC-ATG c.214_216delinsCAT p.G72H Missense 3/10 - 1
7-44192017-CCC-GAT c.214_216delinsATC p.G72I Missense 3/10 - 1
7-44192017-CCC-GCT c.214_216delinsAGC p.G72S Missense 3/10 - 2
7-44192017-CCC-GTT c.214_216delinsAAC p.G72N Missense 3/10 - 1
7-44192017-CC-GT c.215_216delinsAC p.G72D Missense 3/10 - 1
7-44192018-C-A c.215G>T p.G72V Missense 3/10 - 1
7-44192018-CC-AG c.214_215delinsCT p.G72L Missense 3/10 - 1
7-44192018-CC-AT c.214_215delinsAT p.G72M Missense 3/10 - 1
7-44192018-CC-GG c.214_215inv p.G72P Missense 3/10 - 1
7-44192018-CC-GT c.214_215delinsAC p.G72T Missense 3/10 - 1
7-44192018-CC-TG c.214_215delinsCA p.G72Q Missense 3/10 - 1
7-44192018-CC-TT c.214_215delinsAA p.G72K Missense 3/10 - 1
7-44192018-C-G c.215G>C p.G72A Missense 3/10 - 2
7-44192018-C-T c.215G>A p.G72E Missense 3/10 - 4
7-44192015-TC-T c.217del p.D73Tfs*14 Frameshift 3/10 - 1
7-44192019-C-A c.214G>T p.G72W Missense 3/10 - 1
7-44192019-C-G c.214G>C p.G72R Missense 3/10 - 6
7-44192019-C-T c.214G>A p.G72R Missense 3/10 - 32
7-44192020-G-A c.213C>T p.V71= Synonymous 3/10 - 2
7-44192020-GAC-CAT c.211_213delinsATG p.V71M Missense 3/10 - 1
7-44192020-GAC-CCA c.211_213delinsTGG p.V71W Missense 3/10 - 1
7-44192020-GAC-CTT c.211_213delinsAAG p.V71K Missense 3/10 - 1
7-44192020-GA-CT c.212_213delinsAG p.V71E Missense 3/10 - 1
7-44192020-GAC-TTG c.211_213delinsCAA p.V71Q Missense 3/10 - 1
7-44192021-A-C c.212T>G p.V71G Missense 3/10 - 1
7-44192021-AC-CA c.211_212delinsTG p.V71C Missense 3/10 - 1
7-44192021-AC-CG c.211_212delinsCG p.V71R Missense 3/10 - 1
7-44192021-AC-CT c.211_212delinsAG p.V71S Missense 3/10 - 1
7-44192021-AC-GG c.211_212delinsCC p.V71P Missense 3/10 - 1
7-44192021-AC-GT c.211_212inv p.V71T Missense 3/10 - 1
7-44192021-AC-TA c.211_212delinsTA p.V71Y Missense 3/10 - 1
7-44192021-AC-TG c.211_212delinsCA p.V71H Missense 3/10 - 1
7-44192021-AC-TT c.211_212delinsAA p.V71N Missense 3/10 - 1
7-44192021-A-G c.212T>C p.V71A Missense 3/10 - 2
7-44192021-A-T c.212T>A p.V71D Missense 3/10 - 1
7-44192022-C-A c.211G>T p.V71F Missense 3/10 - 1
7-44192022-C-G c.211G>C p.V71L Missense 3/10 - 1
7-44192022-C-T c.211G>A p.V71I Missense 3/10 - 3
7-44192023-T-A c.210A>T p.E70D Missense 3/10 - 3
7-44192023-T-G c.210A>C p.E70D Missense 3/10 - 5
7-44192024-T-A c.209A>T p.E70V Missense 3/10 - 1
7-44192024-T-C c.209A>G p.E70G Missense 3/10 - 1
7-44192024-T-G c.209A>C p.E70A Missense 3/10 - 1
7-44192032-C-T c.209-8G>A - IntronicSNV - 2/9 1
7-44192203-A-G c.209-179T>C - IntronicSNV - 2/9 4
7-44192260-C-A c.209-236G>T - IntronicSNV - 2/9 3
7-44192552-G-A c.208+348C>T - IntronicSNV - 2/9 1
7-44192552-G-T c.208+348C>A - IntronicSNV - 2/9 1
7-44192698-C-T c.208+202G>A - IntronicSNV - 2/9 1
7-44192705-C-T c.208+195G>A - IntronicSNV - 2/9 1
7-44192714-C-T c.208+186G>A - IntronicSNV - 2/9 1
7-44192716-C-T c.208+184G>A - IntronicSNV - 2/9 1
7-44192768-C-T c.208+132G>A - IntronicSNV - 2/9 1
7-44192784-C-T c.208+116G>A - IntronicSNV - 2/9 1
7-44192788-A-G c.208+112T>C - IntronicSNV - 2/9 1
7-44192889-C-T c.208+11G>A - IntronicSNV - 2/9 2
7-44192897-T-C c.208+3A>G - IntronicSNV - 2/9 1
7-44192898-A-G c.208+2T>C - IntronicSNV - 2/9 2
7-44192900-C-G c.208G>C p.E70Q Missense 2/10 - 1
7-44192900-C-T c.208G>A p.E70K Missense 2/10 - 9
7-44192901-TG-AA c.206_207delinsTT p.S69F Missense 2/10 - 1
7-44192901-TGA-ATG c.205_207delinsCAT p.S69H Missense 2/10 - 1
7-44192901-TG-AC c.206_207delinsGT p.S69C Missense 2/10 - 2
7-44192901-TGA-CAT c.205_207delinsATG p.S69M Missense 2/10 - 1
7-44192901-TGA-GTC c.205_207delinsGAC p.S69D Missense 2/10 - 1
7-44192901-TGA-GTT c.205_207delinsAAC p.S69N Missense 2/10 - 1
7-44192901-TG-AT c.206_207delinsAT p.S69Y Missense 2/10 - 1
7-44192901-TG-CC c.206_207delinsGG p.S69W Missense 2/10 - 1
7-44192902-G-A c.206C>T p.S69L Missense 2/10 - 1
7-44192902-GA-AC c.205_206delinsGT p.S69V Missense 2/10 - 1
7-44192902-GA-AT c.205_206delinsAT p.S69I Missense 2/10 - 1
7-44192902-GA-CC c.205_206delinsGG p.S69G Missense 2/10 - 1
7-44192902-GA-CT c.205_206delinsAG p.S69R Missense 2/10 - 1
7-44192902-GA-TC c.205_206inv p.S69E Missense 2/10 - 1
7-44192902-GA-TG c.205_206delinsCA p.S69Q Missense 2/10 - 1
7-44192902-GA-TT c.205_206delinsAA p.S69K Missense 2/10 - 1
7-44192903-A-C c.205T>G p.S69A Missense 2/10 - 1
7-44192903-A-G c.205T>C p.S69P Missense 2/10 - 2
7-44192903-A-T c.205T>A p.S69T Missense 2/10 - 2
7-44192904-GCC-CAT c.202_204delinsATG p.G68M Missense 2/10 - 1
7-44192904-GCC-CCA c.202_204delinsTGG p.G68W Missense 2/10 - 1
7-44192904-GCC-CTT c.202_204delinsAAG p.G68K Missense 2/10 - 1
7-44192904-GC-CT c.203_204delinsAG p.G68E Missense 2/10 - 1
7-44192904-GCC-TTG c.202_204delinsCAA p.G68Q Missense 2/10 - 1
7-44192905-C-A c.203G>T p.G68V Missense 2/10 - 15
7-44192905-CC-AA c.202_203delinsTT p.G68F Missense 2/10 - 1
7-44192905-CC-AG c.202_203delinsCT p.G68L Missense 2/10 - 1
7-44192905-CC-AT c.202_203delinsAT p.G68I Missense 2/10 - 1
7-44192905-CC-GG c.202_203inv p.G68P Missense 2/10 - 1
7-44192905-CC-GT c.202_203delinsAC p.G68T Missense 2/10 - 1
7-44192905-CC-TA c.202_203delinsTA p.G68Y Missense 2/10 - 1
7-44192905-CC-TG c.202_203delinsCA p.G68H Missense 2/10 - 2
7-44192905-CC-TT c.202_203delinsAA p.G68N Missense 2/10 - 1
7-44192905-C-G c.203G>C p.G68A Missense 2/10 - 1
7-44192905-C-T c.203G>A p.G68D Missense 2/10 - 11
7-44192906-C-A c.202G>T p.G68C Missense 2/10 - 1
7-44192906-C-G c.202G>C p.G68R Missense 2/10 - 1
7-44192906-C-T c.202G>A p.G68S Missense 2/10 - 1
7-44192907-T-A c.201A>T p.E67D Missense 2/10 - 1
7-44192907-T-G c.201A>C p.E67D Missense 2/10 - 1
7-44192907-TTC-AAA c.199_201delinsTTT p.E67F Missense 2/10 - 1
7-44192907-TTC-ACA c.199_201delinsTGT p.E67C Missense 2/10 - 1
7-44192907-TTC-ATA c.199_201delinsTAT p.E67Y Missense 2/10 - 1
7-44192907-TTC-ATG c.199_201delinsCAT p.E67H Missense 2/10 - 1
7-44192907-TTC-CAT c.199_201delinsATG p.E67M Missense 2/10 - 1
7-44192907-TTC-CCA c.199_201delinsTGG p.E67W Missense 2/10 - 1
7-44192907-TTC-GTT c.199_201delinsAAC p.E67N Missense 2/10 - 1
7-44192908-T-A c.200A>T p.E67V Missense 2/10 - 1
7-44192908-T-C c.200A>G p.E67G Missense 2/10 - 1
7-44192908-TC-AG c.199_200delinsCT p.E67L Missense 2/10 - 1
7-44192908-TC-AT c.199_200delinsAT p.E67I Missense 2/10 - 1
7-44192908-TC-CT c.199_200delinsAG p.E67R Missense 2/10 - 1
7-44192908-TC-GA c.199_200inv p.E67S Missense 2/10 - 1
7-44192908-TC-GG c.199_200delinsCC p.E67P Missense 2/10 - 1
7-44192908-TC-GT c.199_200delinsAC p.E67T Missense 2/10 - 1
7-44192908-T-G c.200A>C p.E67A Missense 2/10 - 1
7-44192909-C-A c.199G>T p.E67* Nonsense 2/10 - 1
7-44192909-C-G c.199G>C p.E67Q Missense 2/10 - 1
7-44192909-C-T c.199G>A p.E67K Missense 2/10 - 1
7-44192910-TG-AT c.197_198delinsAT p.P66H Missense 2/10 - 1
7-44192910-TGG-AAA c.196_198delinsTTT p.P66F Missense 2/10 - 1
7-44192910-TGG-ACA c.196_198delinsTGT p.P66C Missense 2/10 - 1
7-44192910-TGG-ATA c.196_198delinsTAT p.P66Y Missense 2/10 - 1
7-44192910-TGG-CAT c.196_198delinsATG p.P66M Missense 2/10 - 1
7-44192910-TGG-CCA c.196_198inv p.P66W Missense 2/10 - 1
7-44192910-TGG-GTC c.196_198delinsGAC p.P66D Missense 2/10 - 1
7-44192910-TGG-GTT c.196_198delinsAAC p.P66N Missense 2/10 - 1
7-44192911-G-A c.197C>T p.P66L Missense 2/10 - 2
7-44192911-G-C c.197C>G p.P66R Missense 2/10 - 1
7-44192911-GG-AC c.196_197delinsGT p.P66V Missense 2/10 - 1
7-44192911-GG-AT c.196_197delinsAT p.P66I Missense 2/10 - 1
7-44192911-GG-CC c.196_197inv p.P66G Missense 2/10 - 2
7-44192911-GG-TC c.196_197delinsGA p.P66E Missense 2/10 - 1
7-44192911-GG-TT c.196_197delinsAA p.P66K Missense 2/10 - 1
7-44192911-G-T c.197C>A p.P66Q Missense 2/10 - 1
7-44192912-G-A c.196C>T p.P66S Missense 2/10 - 3
7-44192912-G-C c.196C>G p.P66A Missense 2/10 - 2
7-44192912-G-T c.196C>A p.P66T Missense 2/10 - 1
7-44192913-GG-CA c.194_195delinsTG p.T65M Missense 2/10 - 2
7-44192913-GG-CC c.194_195inv p.T65R Missense 2/10 - 1
7-44192913-GG-CT c.194_195delinsAG p.T65K Missense 2/10 - 1
7-44192913-GGT-CCA c.193_195delinsTGG p.T65W Missense 2/10 - 2
7-44192913-GGT-CTC c.193_195delinsGAG p.T65E Missense 2/10 - 1
7-44192913-GGT-TTG c.193_195delinsCAA p.T65Q Missense 2/10 - 1
7-44192914-G-A c.194C>T p.T65I Missense 2/10 - 18
7-44192914-G-C c.194C>G p.T65S Missense 2/10 - 1
7-44192914-G-T c.194C>A p.T65N Missense 2/10 - 1
7-44192914-GT-AA c.193_194delinsTT p.T65F Missense 2/10 - 1
7-44192914-GT-AC c.193_194inv p.T65V Missense 2/10 - 1
7-44192914-GT-AG c.193_194delinsCT p.T65L Missense 2/10 - 1
7-44192914-GT-CA c.193_194delinsTG p.T65C Missense 2/10 - 1
7-44192914-GT-CC c.193_194delinsGG p.T65G Missense 2/10 - 1
7-44192914-GT-TA c.193_194delinsTA p.T65Y Missense 2/10 - 1
7-44192914-GT-TC c.193_194delinsGA p.T65D Missense 2/10 - 1
7-44192914-GT-TG c.193_194delinsCA p.T65H Missense 2/10 - 1
7-44192915-T-A c.193A>T p.T65S Missense 2/10 - 1
7-44192915-T-C c.193A>G p.T65A Missense 2/10 - 1
7-44192915-T-G c.193A>C p.T65P Missense 2/10 - 1
7-44192916-GGA-CAT c.190_192delinsATG p.S64M Missense 2/10 - 1
7-44192916-GGA-CTC c.190_192delinsGAG p.S64E Missense 2/10 - 1
7-44192916-GGA-CTT c.190_192delinsAAG p.S64K Missense 2/10 - 1
7-44192916-GGA-TTG c.190_192delinsCAA p.S64Q Missense 2/10 - 1
7-44192916-GG-CC c.191_192inv p.S64W Missense 2/10 - 1
7-44192917-G-A c.191C>T p.S64F Missense 2/10 - 6
7-44192917-GA-AC c.190_191delinsGT p.S64V Missense 2/10 - 1
7-44192917-GA-AG c.190_191delinsCT p.S64L Missense 2/10 - 1
7-44192917-GA-AT c.190_191delinsAT p.S64I Missense 2/10 - 1
7-44192917-GA-CC c.190_191delinsGG p.S64G Missense 2/10 - 1
7-44192917-GA-CG c.190_191delinsCG p.S64R Missense 2/10 - 2
7-44192917-GA-TC c.190_191inv p.S64D Missense 2/10 - 1
7-44192917-GA-TG c.190_191delinsCA p.S64H Missense 2/10 - 1
7-44192917-GA-TT c.190_191delinsAA p.S64N Missense 2/10 - 1
7-44192917-G-C c.191C>G p.S64C Missense 2/10 - 1
7-44192917-G-T c.191C>A p.S64Y Missense 2/10 - 5
7-44192918-A-C c.190T>G p.S64A Missense 2/10 - 1
7-44192918-A-G c.190T>C p.S64P Missense 2/10 - 7
7-44192918-A-T c.190T>A p.S64T Missense 2/10 - 1
7-44192919-GCG-CAT c.187_189delinsATG p.R63M Missense 2/10 - 1
7-44192919-GCG-CCA c.187_189delinsTGG p.R63W Missense 2/10 - 2
7-44192919-GCG-CTC c.187_189delinsGAG p.R63E Missense 2/10 - 1
7-44192919-GCG-CTT c.187_189delinsAAG p.R63K Missense 2/10 - 1
7-44192919-GC-TT c.188_189delinsAA p.R63Q Missense 2/10 - 2
7-44192920-C-A c.188G>T p.R63L Missense 2/10 - 1
7-44192920-C-G c.188G>C p.R63P Missense 2/10 - 1
7-44192920-CG-AA c.187_188delinsTT p.R63F Missense 2/10 - 1
7-44192920-CG-AC c.187_188delinsGT p.R63V Missense 2/10 - 1
7-44192920-CG-AT c.187_188delinsAT p.R63I Missense 2/10 - 1
7-44192920-CG-GC c.187_188delinsGC p.R63A Missense 2/10 - 1
7-44192920-CG-GT c.187_188delinsAC p.R63T Missense 2/10 - 1
7-44192920-CG-TA c.187_188delinsTA p.R63Y Missense 2/10 - 1
7-44192920-CG-TC c.187_188delinsGA p.R63D Missense 2/10 - 1
7-44192920-CG-TT c.187_188delinsAA p.R63N Missense 2/10 - 1
7-44192920-C-T c.188G>A p.R63H Missense 2/10 - 7
7-44192921-G-A c.187C>T p.R63C Missense 2/10 - 3
7-44192921-G-C c.187C>G p.R63G Missense 2/10 - 1
7-44192921-G-T c.187C>A p.R63S Missense 2/10 - 1
7-44192922-CAC-AAA c.184_186delinsTTT p.V62F Missense 2/10 - 1
7-44192922-CAC-ACA c.184_186delinsTGT p.V62C Missense 2/10 - 1
7-44192922-CAC-ATA c.184_186delinsTAT p.V62Y Missense 2/10 - 1
7-44192922-CAC-ATG c.184_186delinsCAT p.V62H Missense 2/10 - 1
7-44192922-CAC-GAT c.184_186delinsATC p.V62I Missense 2/10 - 1
7-44192922-CAC-GTT c.184_186delinsAAC p.V62N Missense 2/10 - 1
7-44192922-CA-GT c.185_186delinsAC p.V62D Missense 2/10 - 1
7-44192922-C-T c.186G>A p.V62= Synonymous 2/10 - 1
7-44192922-GC-G c.186del p.R63Afs*24 Frameshift 2/10 - 1
7-44192923-A-C c.185T>G p.V62G Missense 2/10 - 1
7-44192923-AC-CA c.184_185delinsTG p.V62W Missense 2/10 - 1
7-44192923-AC-CT c.184_185delinsAG p.V62R Missense 2/10 - 1
7-44192923-AC-GA c.184_185delinsTC p.V62S Missense 2/10 - 1
7-44192923-AC-GG c.184_185delinsCC p.V62P Missense 2/10 - 1
7-44192923-AC-GT c.184_185inv p.V62T Missense 2/10 - 1
7-44192923-AC-TG c.184_185delinsCA p.V62Q Missense 2/10 - 2
7-44192923-AC-TT c.184_185delinsAA p.V62K Missense 2/10 - 2
7-44192923-A-G c.185T>C p.V62A Missense 2/10 - 10
7-44192923-A-T c.185T>A p.V62E Missense 2/10 - 2
7-44192924-C-A c.184G>T p.V62L Missense 2/10 - 2
7-44192924-C-G c.184G>C p.V62L Missense 2/10 - 2
7-44192924-C-T c.184G>A p.V62M Missense 2/10 - 24
7-44192925-G-A c.183C>T p.Y61= Synonymous 2/10 - 4
7-44192925-G-C c.183C>G p.Y61* Nonsense 2/10 - 5
7-44192925-G-T c.183C>A p.Y61* Nonsense 2/10 - 9
7-44192925-GTA-CAT c.181_183delinsATG p.Y61M Missense 2/10 - 1
7-44192925-GTA-CTC c.181_183delinsGAG p.Y61E Missense 2/10 - 1
7-44192925-GTA-CTT c.181_183delinsAAG p.Y61K Missense 2/10 - 1
7-44192925-GTA-TTG c.181_183delinsCAA p.Y61Q Missense 2/10 - 3
7-44192925-GT-CC c.182_183delinsGG p.Y61W Missense 2/10 - 1
7-44192926-T-A c.182A>T p.Y61F Missense 2/10 - 1
7-44192926-TA-AC c.181_182delinsGT p.Y61V Missense 2/10 - 1
7-44192926-TA-AG c.181_182delinsCT p.Y61L Missense 2/10 - 1
7-44192926-TA-AT c.181_182delinsAT p.Y61I Missense 2/10 - 1
7-44192926-TA-CC c.181_182delinsGG p.Y61G Missense 2/10 - 1
7-44192926-TA-CG c.181_182delinsCG p.Y61R Missense 2/10 - 1
7-44192926-TA-GC c.181_182delinsGC p.Y61A Missense 2/10 - 1
7-44192926-TA-GG c.181_182delinsCC p.Y61P Missense 2/10 - 1
7-44192926-TA-GT c.181_182delinsAC p.Y61T Missense 2/10 - 1
7-44192926-T-C c.182A>G p.Y61C Missense 2/10 - 4
7-44192926-T-G c.182A>C p.Y61S Missense 2/10 - 3
7-44192927-A-C c.181T>G p.Y61D Missense 2/10 - 1
7-44192927-A-G c.181T>C p.Y61H Missense 2/10 - 2
7-44192927-A-T c.181T>A p.Y61N Missense 2/10 - 1
7-44192928-GG-CA c.179_180delinsTG p.T60M Missense 2/10 - 1
7-44192928-GG-CC c.179_180inv p.T60R Missense 2/10 - 1
7-44192928-GG-CT c.179_180delinsAG p.T60K Missense 2/10 - 1
7-44192928-GGT-CCA c.178_180delinsTGG p.T60W Missense 2/10 - 1
7-44192928-GGT-CTC c.178_180delinsGAG p.T60E Missense 2/10 - 1
7-44192928-GGT-TTG c.178_180delinsCAA p.T60Q Missense 2/10 - 1
7-44192929-G-A c.179C>T p.T60I Missense 2/10 - 5
7-44192929-G-C c.179C>G p.T60S Missense 2/10 - 1
7-44192929-G-T c.179C>A p.T60N Missense 2/10 - 1
7-44192929-GT-AA c.178_179delinsTT p.T60F Missense 2/10 - 1
7-44192929-GT-AC c.178_179inv p.T60V Missense 2/10 - 1
7-44192929-GT-AG c.178_179delinsCT p.T60L Missense 2/10 - 1
7-44192929-GT-CA c.178_179delinsTG p.T60C Missense 2/10 - 1
7-44192929-GT-CC c.178_179delinsGG p.T60G Missense 2/10 - 1
7-44192929-GT-TA c.178_179delinsTA p.T60Y Missense 2/10 - 1
7-44192929-GT-TC c.178_179delinsGA p.T60D Missense 2/10 - 1
7-44192929-GT-TG c.178_179delinsCA p.T60H Missense 2/10 - 1
7-44192930-T-A c.178A>T p.T60S Missense 2/10 - 1
7-44192930-T-C c.178A>G p.T60A Missense 2/10 - 2
7-44192930-T-G c.178A>C p.T60P Missense 2/10 - 1
7-44192931-G-A c.177C>T p.P59= Synonymous 2/10 - 1
7-44192931-G-C c.177C>G p.P59= Synonymous 2/10 - 1
7-44192931-GGG-CAT c.175_177delinsATG p.P59M Missense 2/10 - 1
7-44192931-GGG-CCA c.175_177delinsTGG p.P59W Missense 2/10 - 1
7-44192931-GGG-CTC c.175_177delinsGAG p.P59E Missense 2/10 - 1
7-44192931-GGG-CTT c.175_177delinsAAG p.P59K Missense 2/10 - 1
7-44192931-GG-TT c.176_177delinsAA p.P59Q Missense 2/10 - 1
7-44192931-G-T c.177C>A p.P59= Synonymous 2/10 - 1
7-44192932-G-A c.176C>T p.P59L Missense 2/10 - 2
7-44192932-G-C c.176C>G p.P59R Missense 2/10 - 1
7-44192932-GG-AA c.175_176delinsTT p.P59F Missense 2/10 - 1
7-44192932-GG-AC c.175_176delinsGT p.P59V Missense 2/10 - 1
7-44192932-GG-AT c.175_176delinsAT p.P59I Missense 2/10 - 1
7-44192932-GG-CA c.175_176delinsTG p.P59C Missense 2/10 - 1
7-44192932-GG-CC c.175_176inv p.P59G Missense 2/10 - 1
7-44192932-GG-TA c.175_176delinsTA p.P59Y Missense 2/10 - 1
7-44192932-GG-TC c.175_176delinsGA p.P59D Missense 2/10 - 1
7-44192932-GG-TT c.175_176delinsAA p.P59N Missense 2/10 - 1
7-44192932-G-T c.176C>A p.P59H Missense 2/10 - 1
7-44192933-G-A c.175C>T p.P59S Missense 2/10 - 11
7-44192933-G-C c.175C>G p.P59A Missense 2/10 - 1
7-44192933-G-T c.175C>A p.P59T Missense 2/10 - 1
7-44192934-CA-AT c.173_174delinsAT p.L58H Missense 2/10 - 1
7-44192934-CAG-AAA c.172_174delinsTTT p.L58F Missense 2/10 - 1
7-44192934-CAG-ACA c.172_174delinsTGT p.L58C Missense 2/10 - 1
7-44192934-CAG-ATA c.172_174delinsTAT p.L58Y Missense 2/10 - 1
7-44192934-CAG-GAT c.172_174delinsATC p.L58I Missense 2/10 - 1
7-44192934-CAG-GTC c.172_174delinsGAC p.L58D Missense 2/10 - 1
7-44192934-CAG-GTT c.172_174delinsAAC p.L58N Missense 2/10 - 1
7-44192934-GC-G c.174del p.T60Pfs*27 Frameshift 2/10 - 1
7-44192935-A-C c.173T>G p.L58R Missense 2/10 - 2
7-44192935-A-G c.173T>C p.L58P Missense 2/10 - 5
7-44192935-AG-CA c.172_173delinsTG p.L58W Missense 2/10 - 1
7-44192935-AG-CC c.172_173delinsGG p.L58G Missense 2/10 - 1
7-44192935-AG-GA c.172_173delinsTC p.L58S Missense 2/10 - 1
7-44192935-AG-GC c.172_173delinsGC p.L58A Missense 2/10 - 1
7-44192935-AG-GT c.172_173delinsAC p.L58T Missense 2/10 - 1
7-44192935-AG-TC c.172_173delinsGA p.L58E Missense 2/10 - 1
7-44192935-AG-TT c.172_173delinsAA p.L58K Missense 2/10 - 1
7-44192935-A-T c.173T>A p.L58Q Missense 2/10 - 1
7-44192936-G-C c.172C>G p.L58V Missense 2/10 - 1
7-44192936-G-T c.172C>A p.L58M Missense 2/10 - 1
7-44192937-C-A c.171G>T p.M57I Missense 2/10 - 3
7-44192937-CA-GC c.170_171delinsGC p.M57S Missense 2/10 - 1
7-44192937-CA-GT c.170_171delinsAC p.M57N Missense 2/10 - 1
7-44192937-CAT-AAA c.169_171delinsTTT p.M57F Missense 2/10 - 1
7-44192937-CAT-ACA c.169_171delinsTGT p.M57C Missense 2/10 - 1
7-44192937-CAT-ATA c.169_171delinsTAT p.M57Y Missense 2/10 - 1
7-44192937-CAT-ATG c.169_171inv p.M57H Missense 2/10 - 1
7-44192937-CAT-GTC c.169_171delinsGAC p.M57D Missense 2/10 - 1
7-44192937-C-G c.171G>C p.M57I Missense 2/10 - 2
7-44192937-C-T c.171G>A p.M57I Missense 2/10 - 2
7-44192937-GC-G c.171del p.M57Ifs*30 Frameshift 2/10 - 1
7-44192938-A-C c.170T>G p.M57R Missense 2/10 - 3
7-44192938-A-G c.170T>C p.M57T Missense 2/10 - 1
7-44192938-A-T c.170T>A p.M57K Missense 2/10 - 3
7-44192938-AT-C c.169_170delinsG p.M57Gfs*30 Frameshift 2/10 - 2
7-44192938-AT-CA c.169_170delinsTG p.M57W Missense 2/10 - 1
7-44192938-AT-CC c.169_170delinsGG p.M57G Missense 2/10 - 1
7-44192938-AT-GC c.169_170delinsGC p.M57A Missense 2/10 - 1
7-44192938-AT-GG c.169_170delinsCC p.M57P Missense 2/10 - 1
7-44192938-AT-TC c.169_170delinsGA p.M57E Missense 2/10 - 1
7-44192938-AT-TG c.169_170delinsCA p.M57Q Missense 2/10 - 1
7-44192939-T-A c.169A>T p.M57L Missense 2/10 - 1
7-44192939-T-C c.169A>G p.M57V Missense 2/10 - 1
7-44192939-T-G c.169A>C p.M57L Missense 2/10 - 1
7-44192940-C-A c.168G>T p.K56N Missense 2/10 - 2
7-44192940-C-G c.168G>C p.K56N Missense 2/10 - 2
7-44192940-C-T c.168G>A p.K56= Synonymous 2/10 - 3
7-44192940-CT-GA c.167_168delinsTC p.K56I Missense 2/10 - 1
7-44192940-CT-GC c.167_168delinsGC p.K56S Missense 2/10 - 1
7-44192940-CTT-AAA c.166_168delinsTTT p.K56F Missense 2/10 - 1
7-44192940-CTT-ACA c.166_168delinsTGT p.K56C Missense 2/10 - 1
7-44192940-CTT-ATA c.166_168delinsTAT p.K56Y Missense 2/10 - 1
7-44192940-CTT-ATG c.166_168delinsCAT p.K56H Missense 2/10 - 1
7-44192940-CTT-GTC c.166_168delinsGAC p.K56D Missense 2/10 - 1
7-44192940-TC-T c.168del p.M57Cfs*30 Frameshift 2/10 - 2
7-44192941-T-A c.167A>T p.K56M Missense 2/10 - 1
7-44192941-T-C c.167A>G p.K56R Missense 2/10 - 2
7-44192941-T-G c.167A>C p.K56T Missense 2/10 - 1
7-44192941-TT-AC c.166_167delinsGT p.K56V Missense 2/10 - 1
7-44192941-TT-AG c.166_167delinsCT p.K56L Missense 2/10 - 1
7-44192941-TT-CA c.166_167delinsTG p.K56W Missense 2/10 - 1
7-44192941-TT-CC c.166_167delinsGG p.K56G Missense 2/10 - 1
7-44192941-TT-GC c.166_167delinsGC p.K56A Missense 2/10 - 1
7-44192941-TT-GG c.166_167delinsCC p.K56P Missense 2/10 - 1
7-44192942-T-C c.166A>G p.K56E Missense 2/10 - 1
7-44192942-T-G c.166A>C p.K56Q Missense 2/10 - 1
7-44192943-C-A c.165G>T p.V55= Synonymous 2/10 - 1
7-44192943-CAC-AAA c.163_165delinsTTT p.V55F Missense 2/10 - 1
7-44192943-CAC-ACA c.163_165delinsTGT p.V55C Missense 2/10 - 1
7-44192943-CAC-ATA c.163_165delinsTAT p.V55Y Missense 2/10 - 1
7-44192943-CAC-ATG c.163_165delinsCAT p.V55H Missense 2/10 - 1
7-44192943-CAC-GAT c.163_165delinsATC p.V55I Missense 2/10 - 1
7-44192943-CAC-GTT c.163_165delinsAAC p.V55N Missense 2/10 - 1
7-44192943-CA-GT c.164_165delinsAC p.V55D Missense 2/10 - 1
7-44192943-C-G c.165G>C p.V55= Synonymous 2/10 - 1
7-44192943-C-T c.165G>A p.V55= Synonymous 2/10 - 1
7-44192944-A-C c.164T>G p.V55G Missense 2/10 - 3
7-44192944-AC-CA c.163_164delinsTG p.V55W Missense 2/10 - 1
7-44192944-AC-CT c.163_164delinsAG p.V55R Missense 2/10 - 1
7-44192944-AC-GA c.163_164delinsTC p.V55S Missense 2/10 - 1
7-44192944-AC-GG c.163_164delinsCC p.V55P Missense 2/10 - 1
7-44192944-AC-GT c.163_164inv p.V55T Missense 2/10 - 1
7-44192944-AC-TG c.163_164delinsCA p.V55Q Missense 2/10 - 1
7-44192944-AC-TT c.163_164delinsAA p.V55K Missense 2/10 - 1
7-44192944-A-G c.164T>C p.V55A Missense 2/10 - 1
7-44192944-A-T c.164T>A p.V55E Missense 2/10 - 1
7-44192945-C-A c.163G>T p.V55L Missense 2/10 - 1
7-44192945-C-G c.163G>C p.V55L Missense 2/10 - 1
7-44192945-C-T c.163G>A p.V55M Missense 2/10 - 1
7-44192946-A-C c.162T>G p.S54R Missense 2/10 - 5
7-44192946-AC-CA c.161_162delinsTG p.S54M Missense 2/10 - 1
7-44192946-AC-CT c.161_162delinsAG p.S54K Missense 2/10 - 1
7-44192946-ACT-CCA c.160_162delinsTGG p.S54W Missense 2/10 - 1
7-44192946-ACT-CTC c.160_162delinsGAG p.S54E Missense 2/10 - 1
7-44192946-ACT-TTG c.160_162delinsCAA p.S54Q Missense 2/10 - 1
7-44192946-A-G c.162T>C p.S54= Synonymous 2/10 - 1
7-44192946-A-T c.162T>A p.S54R Missense 2/10 - 2
7-44192948-T-G c.160A>C p.S54R Missense 2/10 - 2
7-44192947-C-A c.161G>T p.S54I Missense 2/10 - 1
7-44192947-C-G c.161G>C p.S54T Missense 2/10 - 1
7-44192947-C-T c.161G>A p.S54N Missense 2/10 - 2
7-44192947-CT-AA c.160_161delinsTT p.S54F Missense 2/10 - 1
7-44192947-CT-AC c.160_161delinsGT p.S54V Missense 2/10 - 1
7-44192947-CT-AG c.160_161inv p.S54L Missense 2/10 - 1
7-44192947-CT-GC c.160_161delinsGC p.S54A Missense 2/10 - 1
7-44192947-CT-GG c.160_161delinsCC p.S54P Missense 2/10 - 1
7-44192947-CT-TA c.160_161delinsTA p.S54Y Missense 2/10 - 1
7-44192947-CT-TC c.160_161delinsGA p.S54D Missense 2/10 - 1
7-44192947-CT-TG c.160_161delinsCA p.S54H Missense 2/10 - 1
7-44192948-T-A c.160A>T p.S54C Missense 2/10 - 1
7-44192948-T-C c.160A>G p.S54G Missense 2/10 - 1
7-44192949-GGC-CAT c.157_159delinsATG p.A53M Missense 2/10 - 1
7-44192949-GGC-CCA c.157_159delinsTGG p.A53W Missense 2/10 - 1
7-44192949-GGC-CTT c.157_159delinsAAG p.A53K Missense 2/10 - 1
7-44192949-GG-CT c.158_159delinsAG p.A53E Missense 2/10 - 1
7-44192949-GGC-TTG c.157_159delinsCAA p.A53Q Missense 2/10 - 1
7-44192950-G-A c.158C>T p.A53V Missense 2/10 - 5
7-44192950-G-C c.158C>G p.A53G Missense 2/10 - 1
7-44192950-GC-AA c.157_158delinsTT p.A53F Missense 2/10 - 2
7-44192950-GC-AG c.157_158delinsCT p.A53L Missense 2/10 - 1
7-44192950-GC-AT c.157_158delinsAT p.A53I Missense 2/10 - 1
7-44192950-GC-CA c.157_158delinsTG p.A53C Missense 2/10 - 2
7-44192950-GC-CG c.157_158delinsCG p.A53R Missense 2/10 - 1
7-44192950-GC-TA c.157_158delinsTA p.A53Y Missense 2/10 - 1
7-44192950-GC-TG c.157_158delinsCA p.A53H Missense 2/10 - 1
7-44192950-GC-TT c.157_158delinsAA p.A53N Missense 2/10 - 1
7-44192950-G-T c.158C>A p.A53D Missense 2/10 - 1
7-44192951-C-A c.157G>T p.A53S Missense 2/10 - 8
7-44192951-C-G c.157G>C p.A53P Missense 2/10 - 1
7-44192951-C-T c.157G>A p.A53T Missense 2/10 - 3
7-44192952-C-A c.156G>T p.E52D Missense 2/10 - 1
7-44192952-C-G c.156G>C p.E52D Missense 2/10 - 1
7-44192952-CTC-AAA c.154_156delinsTTT p.E52F Missense 2/10 - 1
7-44192952-CTC-ACA c.154_156delinsTGT p.E52C Missense 2/10 - 1
7-44192952-CTC-ATA c.154_156delinsTAT p.E52Y Missense 2/10 - 1
7-44192952-CTC-ATG c.154_156delinsCAT p.E52H Missense 2/10 - 1
7-44192952-CTC-GAT c.154_156delinsATC p.E52I Missense 2/10 - 1
7-44192952-CTC-GTT c.154_156delinsAAC p.E52N Missense 2/10 - 1
7-44192953-T-A c.155A>T p.E52V Missense 2/10 - 1
7-44192953-T-C c.155A>G p.E52G Missense 2/10 - 2
7-44192953-TC-AG c.154_155delinsCT p.E52L Missense 2/10 - 1
7-44192953-TC-AT c.154_155delinsAT p.E52M Missense 2/10 - 1
7-44192953-TC-CA c.154_155delinsTG p.E52W Missense 2/10 - 1
7-44192953-TC-CT c.154_155delinsAG p.E52R Missense 2/10 - 1
7-44192953-TC-GA c.154_155inv p.E52S Missense 2/10 - 1
7-44192953-TC-GG c.154_155delinsCC p.E52P Missense 2/10 - 1
7-44192953-TC-GT c.154_155delinsAC p.E52T Missense 2/10 - 1
7-44192953-T-G c.155A>C p.E52A Missense 2/10 - 1
7-44192954-C-G c.154G>C p.E52Q Missense 2/10 - 3
7-44192954-C-T c.154G>A p.E52K Missense 2/10 - 1
7-44192956-T-C c.152A>G p.E51G Missense 2/10 - 1
7-44192956-T-G c.152A>C p.E51A Missense 2/10 - 1
7-44192957-C-A c.151G>T p.E51* Nonsense 2/10 - 1
7-44192957-C-T c.151G>A p.E51K Missense 2/10 - 1
7-44192958-A-C c.150T>G p.H50Q Missense 2/10 - 1
7-44192958-A-T c.150T>A p.H50Q Missense 2/10 - 1
7-44192958-A-AT c.149dup p.H50Qfs*2 Frameshift 2/10 - 2
7-44192959-T-A c.149A>T p.H50L Missense 2/10 - 4
7-44192959-T-C c.149A>G p.H50R Missense 2/10 - 1
7-44192960-G-A c.148C>T p.H50Y Missense 2/10 - 4
7-44192960-G-C c.148C>G p.H50D Missense 2/10 - 3
7-44192961-G-A c.147C>T p.T49= Synonymous 2/10 - 1
7-44192961-G-C c.147C>G p.T49= Synonymous 2/10 - 1
7-44192961-G-T c.147C>A p.T49= Synonymous 2/10 - 1
7-44192959-TG-T c.148del p.H50Mfs*6 Frameshift 2/10 - 1
7-44192962-G-A c.146C>T p.T49I Missense 2/10 - 2
7-44192962-G-T c.146C>A p.T49N Missense 2/10 - 3
7-44192964-C-A c.144G>T p.E48D Missense 2/10 - 1
7-44192964-C-G c.144G>C p.E48D Missense 2/10 - 1
7-44192964-CTC-AAA c.142_144delinsTTT p.E48F Missense 2/10 - 1
7-44192964-CTC-ACA c.142_144delinsTGT p.E48C Missense 2/10 - 2
7-44192964-CTC-ATA c.142_144delinsTAT p.E48Y Missense 2/10 - 1
7-44192964-CTC-ATG c.142_144delinsCAT p.E48H Missense 2/10 - 1
7-44192964-CTC-GAT c.142_144delinsATC p.E48I Missense 2/10 - 1
7-44192964-CTC-GTT c.142_144delinsAAC p.E48N Missense 2/10 - 1
7-44192965-T-A c.143A>T p.E48V Missense 2/10 - 1
7-44192965-T-C c.143A>G p.E48G Missense 2/10 - 1
7-44192965-TC-AG c.142_143delinsCT p.E48L Missense 2/10 - 1
7-44192965-TC-AT c.142_143delinsAT p.E48M Missense 2/10 - 1
7-44192965-TC-CA c.142_143delinsTG p.E48W Missense 2/10 - 1
7-44192965-TC-CT c.142_143delinsAG p.E48R Missense 2/10 - 1
7-44192965-TC-GA c.142_143inv p.E48S Missense 2/10 - 1
7-44192965-TC-GG c.142_143delinsCC p.E48P Missense 2/10 - 1
7-44192965-TC-GT c.142_143delinsAC p.E48T Missense 2/10 - 1
7-44192965-T-G c.143A>C p.E48A Missense 2/10 - 1
7-44192966-C-G c.142G>C p.E48Q Missense 2/10 - 1
7-44192966-C-T c.142G>A p.E48K Missense 2/10 - 4
7-44192967-CA-AT c.140_141delinsAT p.L47H Missense 2/10 - 1
7-44192967-CAG-AAA c.139_141delinsTTT p.L47F Missense 2/10 - 1
7-44192967-CAG-ACA c.139_141delinsTGT p.L47C Missense 2/10 - 1
7-44192967-CAG-ATA c.139_141delinsTAT p.L47Y Missense 2/10 - 1
7-44192967-CAG-GAT c.139_141delinsATC p.L47I Missense 2/10 - 1
7-44192967-CAG-GTC c.139_141delinsGAC p.L47D Missense 2/10 - 1
7-44192967-CAG-GTT c.139_141delinsAAC p.L47N Missense 2/10 - 1
7-44192967-C-T c.141G>A p.L47= Synonymous 2/10 - 2
7-44192968-A-C c.140T>G p.L47R Missense 2/10 - 1
7-44192968-A-G c.140T>C p.L47P Missense 2/10 - 1
7-44192968-AG-CA c.139_140delinsTG p.L47W Missense 2/10 - 1
7-44192968-AG-CC c.139_140delinsGG p.L47G Missense 2/10 - 1
7-44192968-AG-GA c.139_140delinsTC p.L47S Missense 2/10 - 1
7-44192968-AG-GC c.139_140delinsGC p.L47A Missense 2/10 - 1
7-44192968-AG-GT c.139_140delinsAC p.L47T Missense 2/10 - 1
7-44192968-AG-TC c.139_140delinsGA p.L47E Missense 2/10 - 1
7-44192968-AG-TT c.139_140delinsAA p.L47K Missense 2/10 - 1
7-44192968-A-T c.140T>A p.L47Q Missense 2/10 - 1
7-44192969-G-A c.139C>T p.L47= Synonymous 2/10 - 1
7-44192969-G-C c.139C>G p.L47V Missense 2/10 - 1
7-44192969-G-T c.139C>A p.L47M Missense 2/10 - 1
7-44192970-C-A c.138G>T p.R46S Missense 2/10 - 2
7-44192970-CC-GA c.137_138delinsTC p.R46I Missense 2/10 - 1
7-44192970-CC-GT c.137_138delinsAC p.R46N Missense 2/10 - 1
7-44192970-CCT-AAA c.136_138delinsTTT p.R46F Missense 2/10 - 1
7-44192970-CCT-ACA c.136_138delinsTGT p.R46C Missense 2/10 - 1
7-44192970-CCT-ATA c.136_138delinsTAT p.R46Y Missense 2/10 - 1
7-44192970-CCT-ATG c.136_138delinsCAT p.R46H Missense 2/10 - 1
7-44192970-CCT-GTC c.136_138delinsGAC p.R46D Missense 2/10 - 1
7-44192970-C-G c.138G>C p.R46S Missense 2/10 - 2
7-44192970-C-T c.138G>A p.R46= Synonymous 2/10 - 1
7-44192971-C-A c.137G>T p.R46M Missense 2/10 - 4
7-44192971-C-G c.137G>C p.R46T Missense 2/10 - 1
7-44192971-C-T c.137G>A p.R46K Missense 2/10 - 2
7-44192971-CT-AC c.136_137delinsGT p.R46V Missense 2/10 - 1
7-44192971-CT-AG c.136_137inv p.R46L Missense 2/10 - 1
7-44192971-CT-GC c.136_137delinsGC p.R46A Missense 2/10 - 1
7-44192971-CT-GG c.136_137delinsCC p.R46P Missense 2/10 - 1
7-44192971-CT-TA c.136_137delinsTA p.R46* Nonsense 2/10 - 1
7-44192971-CT-TC c.136_137delinsGA p.R46E Missense 2/10 - 1
7-44192971-CT-TG c.136_137delinsCA p.R46Q Missense 2/10 - 4
7-44192972-T-A c.136A>T p.R46W Missense 2/10 - 1
7-44192972-T-C c.136A>G p.R46G Missense 2/10 - 1
7-44192973-CA-AT c.134_135delinsAT p.L45H Missense 2/10 - 1
7-44192973-CAG-AAA c.133_135delinsTTT p.L45F Missense 2/10 - 1
7-44192973-CAG-ACA c.133_135delinsTGT p.L45C Missense 2/10 - 1
7-44192973-CAG-ATA c.133_135delinsTAT p.L45Y Missense 2/10 - 1
7-44192973-CAG-GAT c.133_135delinsATC p.L45I Missense 2/10 - 1
7-44192973-CAG-GTC c.133_135delinsGAC p.L45D Missense 2/10 - 1
7-44192973-CAG-GTT c.133_135delinsAAC p.L45N Missense 2/10 - 1
7-44192974-A-C c.134T>G p.L45R Missense 2/10 - 1
7-44192974-A-G c.134T>C p.L45P Missense 2/10 - 2
7-44192974-AG-CA c.133_134delinsTG p.L45W Missense 2/10 - 1
7-44192974-AG-CC c.133_134delinsGG p.L45G Missense 2/10 - 1
7-44192974-AG-GA c.133_134delinsTC p.L45S Missense 2/10 - 1
7-44192974-AG-GC c.133_134delinsGC p.L45A Missense 2/10 - 1
7-44192974-AG-GT c.133_134delinsAC p.L45T Missense 2/10 - 1
7-44192974-AG-TC c.133_134delinsGA p.L45E Missense 2/10 - 1
7-44192974-AG-TT c.133_134delinsAA p.L45K Missense 2/10 - 1
7-44192974-A-T c.134T>A p.L45Q Missense 2/10 - 5
7-44192975-G-C c.133C>G p.L45V Missense 2/10 - 1
7-44192975-G-T c.133C>A p.L45M Missense 2/10 - 1
7-44192976-G-A c.132C>T p.G44= Synonymous 2/10 - 2
7-44192976-GCC-CAT c.130_132delinsATG p.G44M Missense 2/10 - 1
7-44192976-GCC-CCA c.130_132delinsTGG p.G44W Missense 2/10 - 1
7-44192976-GCC-CTT c.130_132delinsAAG p.G44K Missense 2/10 - 1
7-44192976-GC-CT c.131_132delinsAG p.G44E Missense 2/10 - 1
7-44192976-GCC-TTG c.130_132delinsCAA p.G44Q Missense 2/10 - 1
7-44192977-C-A c.131G>T p.G44V Missense 2/10 - 1
7-44192977-CC-AA c.130_131delinsTT p.G44F Missense 2/10 - 1
7-44192977-CC-AG c.130_131delinsCT p.G44L Missense 2/10 - 1
7-44192977-CC-AT c.130_131delinsAT p.G44I Missense 2/10 - 1
7-44192977-CC-GG c.130_131inv p.G44P Missense 2/10 - 1
7-44192977-CC-GT c.130_131delinsAC p.G44T Missense 2/10 - 1
7-44192977-CC-TA c.130_131delinsTA p.G44Y Missense 2/10 - 1
7-44192977-CC-TG c.130_131delinsCA p.G44H Missense 2/10 - 1
7-44192977-CC-TT c.130_131delinsAA p.G44N Missense 2/10 - 1
7-44192977-C-G c.131G>C p.G44A Missense 2/10 - 1
7-44192977-C-T c.131G>A p.G44D Missense 2/10 - 9
7-44192976-GC-G c.131del p.G44Afs*2 Frameshift 2/10 - 1
7-44192978-C-A c.130G>T p.G44C Missense 2/10 - 2
7-44192978-C-G c.130G>C p.G44R Missense 2/10 - 2
7-44192978-C-T c.130G>A p.G44S Missense 2/10 - 21
7-44192979-G-A c.129C>T p.R43= Synonymous 2/10 - 1
7-44192979-G-C c.129C>G p.R43= Synonymous 2/10 - 1
7-44192979-GCG-CAT c.127_129delinsATG p.R43M Missense 2/10 - 1
7-44192979-GCG-CCA c.127_129delinsTGG p.R43W Missense 2/10 - 1
7-44192979-GCG-CTC c.127_129delinsGAG p.R43E Missense 2/10 - 1
7-44192979-GCG-CTT c.127_129delinsAAG p.R43K Missense 2/10 - 1
7-44192979-GC-TT c.128_129delinsAA p.R43Q Missense 2/10 - 1
7-44192979-G-T c.129C>A p.R43= Synonymous 2/10 - 1
7-44192980-C-A c.128G>T p.R43L Missense 2/10 - 2
7-44192980-C-G c.128G>C p.R43P Missense 2/10 - 8
7-44192980-CG-AA c.127_128delinsTT p.R43F Missense 2/10 - 1
7-44192980-CG-AC c.127_128delinsGT p.R43V Missense 2/10 - 1
7-44192980-CG-AT c.127_128delinsAT p.R43I Missense 2/10 - 1
7-44192980-CG-GC c.127_128delinsGC p.R43A Missense 2/10 - 1
7-44192980-CG-GT c.127_128delinsAC p.R43T Missense 2/10 - 1
7-44192980-CG-TA c.127_128delinsTA p.R43Y Missense 2/10 - 1
7-44192980-CG-TC c.127_128delinsGA p.R43D Missense 2/10 - 1
7-44192980-CG-TT c.127_128delinsAA p.R43N Missense 2/10 - 1
7-44192980-C-T c.128G>A p.R43H Missense 2/10 - 17
7-44192981-G-A c.127C>T p.R43C Missense 2/10 - 14
7-44192981-G-C c.127C>G p.R43G Missense 2/10 - 3
7-44192981-G-T c.127C>A p.R43S Missense 2/10 - 4
7-44192982-G-C c.126C>G p.D42E Missense 2/10 - 1
7-44192982-G-T c.126C>A p.D42E Missense 2/10 - 1
7-44192982-GTC-CAT c.124_126delinsATG p.D42M Missense 2/10 - 1
7-44192982-GTC-CCA c.124_126delinsTGG p.D42W Missense 2/10 - 1
7-44192982-GTC-CTT c.124_126delinsAAG p.D42K Missense 2/10 - 1
7-44192982-GTC-TTG c.124_126delinsCAA p.D42Q Missense 2/10 - 1
7-44192983-T-A c.125A>T p.D42V Missense 2/10 - 1
7-44192983-T-C c.125A>G p.D42G Missense 2/10 - 1
7-44192983-TC-AA c.124_125delinsTT p.D42F Missense 2/10 - 1
7-44192983-TC-AG c.124_125delinsCT p.D42L Missense 2/10 - 1
7-44192983-TC-AT c.124_125delinsAT p.D42I Missense 2/10 - 1
7-44192983-TC-CA c.124_125delinsTG p.D42C Missense 2/10 - 1
7-44192983-TC-CG c.124_125delinsCG p.D42R Missense 2/10 - 1
7-44192983-TC-CT c.124_125delinsAG p.D42S Missense 2/10 - 1
7-44192983-TC-GG c.124_125delinsCC p.D42P Missense 2/10 - 1
7-44192983-TC-GT c.124_125delinsAC p.D42T Missense 2/10 - 1
7-44192983-T-G c.125A>C p.D42A Missense 2/10 - 1
7-44192984-C-A c.124G>T p.D42Y Missense 2/10 - 1
7-44192984-C-G c.124G>C p.D42H Missense 2/10 - 1
7-44192984-C-T c.124G>A p.D42N Missense 2/10 - 2
7-44192985-C-A c.123G>T p.M41I Missense 2/10 - 1
7-44192985-CA-GC c.122_123delinsGC p.M41S Missense 2/10 - 1
7-44192985-CA-GT c.122_123delinsAC p.M41N Missense 2/10 - 1
7-44192985-CAT-AAA c.121_123delinsTTT p.M41F Missense 2/10 - 1
7-44192985-CAT-ACA c.121_123delinsTGT p.M41C Missense 2/10 - 1
7-44192985-CAT-ATA c.121_123delinsTAT p.M41Y Missense 2/10 - 1
7-44192985-CAT-ATG c.121_123inv p.M41H Missense 2/10 - 1
7-44192985-CAT-GTC c.121_123delinsGAC p.M41D Missense 2/10 - 1
7-44192985-C-G c.123G>C p.M41I Missense 2/10 - 1
7-44192985-C-T c.123G>A p.M41I Missense 2/10 - 2
7-44192986-A-C c.122T>G p.M41R Missense 2/10 - 2
7-44192986-A-G c.122T>C p.M41T Missense 2/10 - 6
7-44192986-A-T c.122T>A p.M41K Missense 2/10 - 1
7-44192986-AT-CA c.121_122delinsTG p.M41W Missense 2/10 - 1
7-44192986-AT-CC c.121_122delinsGG p.M41G Missense 2/10 - 1
7-44192986-AT-GC c.121_122delinsGC p.M41A Missense 2/10 - 1
7-44192986-AT-GG c.121_122delinsCC p.M41P Missense 2/10 - 1
7-44192986-AT-TC c.121_122delinsGA p.M41E Missense 2/10 - 1
7-44192986-AT-TG c.121_122delinsCA p.M41Q Missense 2/10 - 1
7-44192987-T-A c.121A>T p.M41L Missense 2/10 - 1
7-44192987-T-C c.121A>G p.M41V Missense 2/10 - 2
7-44192987-T-G c.121A>C p.M41L Missense 2/10 - 1
7-44192988-C-A c.120G>T p.E40D Missense 2/10 - 2
7-44192988-C-G c.120G>C p.E40D Missense 2/10 - 3
7-44192988-CTC-AAA c.118_120delinsTTT p.E40F Missense 2/10 - 1
7-44192988-CTC-ACA c.118_120delinsTGT p.E40C Missense 2/10 - 1
7-44192988-CTC-ATA c.118_120delinsTAT p.E40Y Missense 2/10 - 1
7-44192988-CTC-ATG c.118_120delinsCAT p.E40H Missense 2/10 - 1
7-44192988-CTC-GAT c.118_120delinsATC p.E40I Missense 2/10 - 1
7-44192988-CTC-GTT c.118_120delinsAAC p.E40N Missense 2/10 - 1
7-44192989-T-A c.119A>T p.E40V Missense 2/10 - 1
7-44192989-T-C c.119A>G p.E40G Missense 2/10 - 1
7-44192989-TC-AG c.118_119delinsCT p.E40L Missense 2/10 - 1
7-44192989-TC-AT c.118_119delinsAT p.E40M Missense 2/10 - 1
7-44192989-TC-CA c.118_119delinsTG p.E40W Missense 2/10 - 1
7-44192989-TC-CT c.118_119delinsAG p.E40R Missense 2/10 - 1
7-44192989-TC-GA c.118_119inv p.E40S Missense 2/10 - 1
7-44192989-TC-GG c.118_119delinsCC p.E40P Missense 2/10 - 1
7-44192989-TC-GT c.118_119delinsAC p.E40T Missense 2/10 - 1
7-44192989-T-G c.119A>C p.E40A Missense 2/10 - 1
7-44192990-C-G c.118G>C p.E40Q Missense 2/10 - 1
7-44192990-C-T c.118G>A p.E40K Missense 2/10 - 15
7-44192991-C-A c.117G>T p.K39N Missense 2/10 - 1
7-44192991-C-G c.117G>C p.K39N Missense 2/10 - 1
7-44192991-C-T c.117G>A p.K39= Synonymous 2/10 - 1
7-44192991-CT-GA c.116_117delinsTC p.K39I Missense 2/10 - 1
7-44192991-CT-GC c.116_117delinsGC p.K39S Missense 2/10 - 1
7-44192991-CTT-AAA c.115_117delinsTTT p.K39F Missense 2/10 - 1
7-44192991-CTT-ACA c.115_117delinsTGT p.K39C Missense 2/10 - 1
7-44192991-CTT-ATA c.115_117delinsTAT p.K39Y Missense 2/10 - 1
7-44192991-CTT-ATG c.115_117delinsCAT p.K39H Missense 2/10 - 1
7-44192991-CTT-GTC c.115_117delinsGAC p.K39D Missense 2/10 - 1
7-44192992-T-A c.116A>T p.K39M Missense 2/10 - 1
7-44192992-T-C c.116A>G p.K39R Missense 2/10 - 1
7-44192992-T-G c.116A>C p.K39T Missense 2/10 - 1
7-44192992-TT-AC c.115_116delinsGT p.K39V Missense 2/10 - 1
7-44192992-TT-AG c.115_116delinsCT p.K39L Missense 2/10 - 1
7-44192992-TT-CA c.115_116delinsTG p.K39W Missense 2/10 - 1
7-44192992-TT-CC c.115_116delinsGG p.K39G Missense 2/10 - 1
7-44192992-TT-GC c.115_116delinsGC p.K39A Missense 2/10 - 1
7-44192992-TT-GG c.115_116delinsCC p.K39P Missense 2/10 - 1
7-44192990-CCTT-C c.115_117del p.K39del InFrameDeletion 2/10 - 5
7-44192991-CT-C c.116del p.K39Rfs*7 Frameshift 2/10 - 1
7-44192993-T-C c.115A>G p.K39E Missense 2/10 - 2
7-44192993-T-G c.115A>C p.K39Q Missense 2/10 - 1
7-44192994-C-A c.114G>T p.Q38H Missense 2/10 - 1
7-44192994-C-G c.114G>C p.Q38H Missense 2/10 - 1
7-44192994-CTG-AAA c.112_114delinsTTT p.Q38F Missense 2/10 - 1
7-44192994-CTG-ACA c.112_114delinsTGT p.Q38C Missense 2/10 - 1
7-44192994-CTG-ATA c.112_114delinsTAT p.Q38Y Missense 2/10 - 1
7-44192994-CTG-GAT c.112_114delinsATC p.Q38I Missense 2/10 - 1
7-44192994-CTG-GTC c.112_114delinsGAC p.Q38D Missense 2/10 - 1
7-44192994-CTG-GTT c.112_114delinsAAC p.Q38N Missense 2/10 - 1
7-44192995-T-A c.113A>T p.Q38L Missense 2/10 - 3
7-44192995-T-C c.113A>G p.Q38R Missense 2/10 - 1
7-44192995-T-G c.113A>C p.Q38P Missense 2/10 - 3
7-44192995-TG-AC c.112_113delinsGT p.Q38V Missense 2/10 - 1
7-44192995-TG-AT c.112_113delinsAT p.Q38M Missense 2/10 - 1
7-44192995-TG-CA c.112_113inv p.Q38W Missense 2/10 - 1
7-44192995-TG-CC c.112_113delinsGG p.Q38G Missense 2/10 - 1
7-44192995-TG-GA c.112_113delinsTC p.Q38S Missense 2/10 - 1
7-44192995-TG-GC c.112_113delinsGC p.Q38A Missense 2/10 - 1
7-44192995-TG-GT c.112_113delinsAC p.Q38T Missense 2/10 - 1
7-44192996-G-A c.112C>T p.Q38* Nonsense 2/10 - 1
7-44192996-G-C c.112C>G p.Q38E Missense 2/10 - 1
7-44192996-G-T c.112C>A p.Q38K Missense 2/10 - 3
7-44192997-C-A c.111G>T p.M37I Missense 2/10 - 1
7-44192997-CA-GC c.110_111delinsGC p.M37S Missense 2/10 - 1
7-44192997-CA-GT c.110_111delinsAC p.M37N Missense 2/10 - 1
7-44192997-CAT-AAA c.109_111delinsTTT p.M37F Missense 2/10 - 1
7-44192997-CAT-ACA c.109_111delinsTGT p.M37C Missense 2/10 - 1
7-44192997-CAT-ATA c.109_111delinsTAT p.M37Y Missense 2/10 - 1
7-44192997-CAT-ATG c.109_111inv p.M37H Missense 2/10 - 1
7-44192997-CAT-GTC c.109_111delinsGAC p.M37D Missense 2/10 - 1
7-44192997-C-G c.111G>C p.M37I Missense 2/10 - 1
7-44192997-C-T c.111G>A p.M37I Missense 2/10 - 1
7-44192998-A-C c.110T>G p.M37R Missense 2/10 - 2
7-44192998-A-G c.110T>C p.M37T Missense 2/10 - 3
7-44192998-A-T c.110T>A p.M37K Missense 2/10 - 2
7-44192998-AT-CA c.109_110delinsTG p.M37W Missense 2/10 - 1
7-44192998-AT-CC c.109_110delinsGG p.M37G Missense 2/10 - 1
7-44192998-AT-GC c.109_110delinsGC p.M37A Missense 2/10 - 1
7-44192998-AT-GG c.109_110delinsCC p.M37P Missense 2/10 - 1
7-44192998-AT-TC c.109_110delinsGA p.M37E Missense 2/10 - 1
7-44192998-AT-TG c.109_110delinsCA p.M37Q Missense 2/10 - 1
7-44192999-T-A c.109A>T p.M37L Missense 2/10 - 1
7-44192999-T-C c.109A>G p.M37V Missense 2/10 - 1
7-44192999-T-G c.109A>C p.M37L Missense 2/10 - 1
7-44193000-CC-AT c.107_108delinsAT p.R36H Missense 2/10 - 1
7-44193000-CCG-AAA c.106_108delinsTTT p.R36F Missense 2/10 - 1
7-44193000-CCG-ACA c.106_108delinsTGT p.R36C Missense 2/10 - 1
7-44193000-CCG-ATA c.106_108delinsTAT p.R36Y Missense 2/10 - 1
7-44193000-CCG-GAT c.106_108delinsATC p.R36I Missense 2/10 - 1
7-44193000-CCG-GCT c.106_108delinsAGC p.R36S Missense 2/10 - 1
7-44193000-CCG-GTC c.106_108delinsGAC p.R36D Missense 2/10 - 1
7-44193000-CCG-GTT c.106_108delinsAAC p.R36N Missense 2/10 - 1
7-44192999-TC-T c.108del p.M37Cfs*9 Frameshift 2/10 - 1
7-44193001-C-A c.107G>T p.R36L Missense 2/10 - 2
7-44193001-C-G c.107G>C p.R36P Missense 2/10 - 6
7-44193001-CG-AC c.106_107delinsGT p.R36V Missense 2/10 - 1
7-44193001-CG-AT c.106_107delinsAT p.R36M Missense 2/10 - 1
7-44193001-CG-GC c.106_107delinsGC p.R36A Missense 2/10 - 1
7-44193001-CG-GT c.106_107delinsAC p.R36T Missense 2/10 - 1
7-44193001-CG-TC c.106_107delinsGA p.R36E Missense 2/10 - 1
7-44193001-CG-TT c.106_107delinsAA p.R36K Missense 2/10 - 2
7-44193001-C-T c.107G>A p.R36Q Missense 2/10 - 9
7-44193002-G-A c.106C>T p.R36W Missense 2/10 - 21
7-44193002-G-C c.106C>G p.R36G Missense 2/10 - 1
7-44193003-T-A c.105A>T p.R35S Missense 2/10 - 1
7-44193003-TC-CA c.104_105delinsTG p.R35M Missense 2/10 - 1
7-44193003-TC-GT c.104_105delinsAC p.R35N Missense 2/10 - 1
7-44193003-TCT-AAA c.103_105delinsTTT p.R35F Missense 2/10 - 1
7-44193003-TCT-ACA c.103_105delinsTGT p.R35C Missense 2/10 - 1
7-44193003-TCT-ATA c.103_105delinsTAT p.R35Y Missense 2/10 - 1
7-44193003-TCT-ATG c.103_105delinsCAT p.R35H Missense 2/10 - 1
7-44193003-TCT-CCA c.103_105delinsTGG p.R35W Missense 2/10 - 2
7-44193003-TCT-GTC c.103_105delinsGAC p.R35D Missense 2/10 - 1
7-44193003-T-G c.105A>C p.R35S Missense 2/10 - 1
7-44193004-C-A c.104G>T p.R35I Missense 2/10 - 1
7-44193004-C-G c.104G>C p.R35T Missense 2/10 - 1
7-44193004-C-T c.104G>A p.R35K Missense 2/10 - 2
7-44193004-CT-AC c.103_104delinsGT p.R35V Missense 2/10 - 1
7-44193004-CT-AG c.103_104inv p.R35L Missense 2/10 - 1
7-44193004-CT-GC c.103_104delinsGC p.R35A Missense 2/10 - 1
7-44193004-CT-GG c.103_104delinsCC p.R35P Missense 2/10 - 1
7-44193004-CT-TC c.103_104delinsGA p.R35E Missense 2/10 - 1
7-44193004-CT-TG c.103_104delinsCA p.R35Q Missense 2/10 - 3
7-44193005-T-A c.103A>T p.R35* Nonsense 2/10 - 1
7-44193005-T-C c.103A>G p.R35G Missense 2/10 - 1
7-44193006-C-A c.102G>T p.M34I Missense 2/10 - 1
7-44193006-CA-GC c.101_102delinsGC p.M34S Missense 2/10 - 1
7-44193006-CA-GT c.101_102delinsAC p.M34N Missense 2/10 - 1
7-44193006-CAT-AAA c.100_102delinsTTT p.M34F Missense 2/10 - 1
7-44193006-CAT-ACA c.100_102delinsTGT p.M34C Missense 2/10 - 1
7-44193006-CAT-ATA c.100_102delinsTAT p.M34Y Missense 2/10 - 1
7-44193006-CAT-ATG c.100_102inv p.M34H Missense 2/10 - 1
7-44193006-CAT-GTC c.100_102delinsGAC p.M34D Missense 2/10 - 1
7-44193006-C-G c.102G>C p.M34I Missense 2/10 - 1
7-44193006-C-T c.102G>A p.M34I Missense 2/10 - 1
7-44193007-A-C c.101T>G p.M34R Missense 2/10 - 1
7-44193007-A-G c.101T>C p.M34T Missense 2/10 - 2
7-44193007-A-T c.101T>A p.M34K Missense 2/10 - 1
7-44193007-AT-CA c.100_101delinsTG p.M34W Missense 2/10 - 1
7-44193007-AT-CC c.100_101delinsGG p.M34G Missense 2/10 - 2
7-44193007-AT-GC c.100_101delinsGC p.M34A Missense 2/10 - 1
7-44193007-AT-GG c.100_101delinsCC p.M34P Missense 2/10 - 1
7-44193007-AT-TC c.100_101delinsGA p.M34E Missense 2/10 - 1
7-44193007-AT-TG c.100_101delinsCA p.M34Q Missense 2/10 - 1
7-44193008-T-A c.100A>T p.M34L Missense 2/10 - 1
7-44193008-T-C c.100A>G p.M34V Missense 2/10 - 1
7-44193008-T-G c.100A>C p.M34L Missense 2/10 - 1
7-44193009-CAC-AAA c.97_99delinsTTT p.V33F Missense 2/10 - 1
7-44193009-CAC-ACA c.97_99delinsTGT p.V33C Missense 2/10 - 1
7-44193009-CAC-ATA c.97_99delinsTAT p.V33Y Missense 2/10 - 1
7-44193009-CAC-ATG c.97_99delinsCAT p.V33H Missense 2/10 - 1
7-44193009-CAC-GAT c.97_99delinsATC p.V33I Missense 2/10 - 1
7-44193009-CAC-GTT c.97_99delinsAAC p.V33N Missense 2/10 - 1
7-44193009-CA-GT c.98_99delinsAC p.V33D Missense 2/10 - 1
7-44193010-A-C c.98T>G p.V33G Missense 2/10 - 2
7-44193010-AC-CA c.97_98delinsTG p.V33W Missense 2/10 - 1
7-44193010-AC-CT c.97_98delinsAG p.V33R Missense 2/10 - 1
7-44193010-AC-GA c.97_98delinsTC p.V33S Missense 2/10 - 1
7-44193010-AC-GG c.97_98delinsCC p.V33P Missense 2/10 - 1
7-44193010-AC-GT c.97_98inv p.V33T Missense 2/10 - 1
7-44193010-AC-TG c.97_98delinsCA p.V33Q Missense 2/10 - 1
7-44193010-AC-TT c.97_98delinsAA p.V33K Missense 2/10 - 1
7-44193010-A-G c.98T>C p.V33A Missense 2/10 - 8
7-44193010-A-T c.98T>A p.V33E Missense 2/10 - 4
7-44193011-C-A c.97G>T p.V33L Missense 2/10 - 1
7-44193011-C-G c.97G>C p.V33L Missense 2/10 - 1
7-44193011-C-T c.97G>A p.V33M Missense 2/10 - 1
7-44193012-C-A c.96G>T p.K32N Missense 2/10 - 3
7-44193012-C-G c.96G>C p.K32N Missense 2/10 - 3
7-44193012-CT-GA c.95_96delinsTC p.K32I Missense 2/10 - 1
7-44193012-CT-GC c.95_96delinsGC p.K32S Missense 2/10 - 1
7-44193012-CTT-AAA c.94_96delinsTTT p.K32F Missense 2/10 - 1
7-44193012-CTT-ACA c.94_96delinsTGT p.K32C Missense 2/10 - 1
7-44193012-CTT-ATA c.94_96delinsTAT p.K32Y Missense 2/10 - 1
7-44193012-CTT-ATG c.94_96delinsCAT p.K32H Missense 2/10 - 1
7-44193012-CTT-GTC c.94_96delinsGAC p.K32D Missense 2/10 - 1
7-44193013-T-A c.95A>T p.K32M Missense 2/10 - 1
7-44193013-T-C c.95A>G p.K32R Missense 2/10 - 1
7-44193013-T-G c.95A>C p.K32T Missense 2/10 - 1
7-44193013-TT-AC c.94_95delinsGT p.K32V Missense 2/10 - 1
7-44193013-TT-AG c.94_95delinsCT p.K32L Missense 2/10 - 1
7-44193013-TT-CA c.94_95delinsTG p.K32W Missense 2/10 - 1
7-44193013-TT-CC c.94_95delinsGG p.K32G Missense 2/10 - 1
7-44193013-TT-GC c.94_95delinsGC p.K32A Missense 2/10 - 1
7-44193013-TT-GG c.94_95delinsCC p.K32P Missense 2/10 - 1
7-44193014-T-C c.94A>G p.K32E Missense 2/10 - 3
7-44193014-T-G c.94A>C p.K32Q Missense 2/10 - 1
7-44193015-C-A c.93G>T p.K31N Missense 2/10 - 3
7-44193015-C-G c.93G>C p.K31N Missense 2/10 - 3
7-44193015-C-T c.93G>A p.K31= Synonymous 2/10 - 1
7-44193015-CT-GA c.92_93delinsTC p.K31I Missense 2/10 - 1
7-44193015-CT-GC c.92_93delinsGC p.K31S Missense 2/10 - 1
7-44193015-CTT-AAA c.91_93delinsTTT p.K31F Missense 2/10 - 1
7-44193015-CTT-ACA c.91_93delinsTGT p.K31C Missense 2/10 - 1
7-44193015-CTT-ATA c.91_93delinsTAT p.K31Y Missense 2/10 - 1
7-44193015-CTT-ATG c.91_93delinsCAT p.K31H Missense 2/10 - 1
7-44193015-CTT-GTC c.91_93delinsGAC p.K31D Missense 2/10 - 1
7-44193011-CCTT-C c.94_96del p.K32del InFrameDeletion 2/10 - 2
7-44193016-T-A c.92A>T p.K31M Missense 2/10 - 1
7-44193016-T-C c.92A>G p.K31R Missense 2/10 - 1
7-44193016-T-G c.92A>C p.K31T Missense 2/10 - 1
7-44193016-TT-AC c.91_92delinsGT p.K31V Missense 2/10 - 1
7-44193016-TT-AG c.91_92delinsCT p.K31L Missense 2/10 - 1
7-44193016-TT-CA c.91_92delinsTG p.K31W Missense 2/10 - 1
7-44193016-TT-CC c.91_92delinsGG p.K31G Missense 2/10 - 1
7-44193016-TT-GC c.91_92delinsGC p.K31A Missense 2/10 - 1
7-44193016-TT-GG c.91_92delinsCC p.K31P Missense 2/10 - 1
7-44193017-T-C c.91A>G p.K31E Missense 2/10 - 1
7-44193017-T-G c.91A>C p.K31Q Missense 2/10 - 1
7-44193018-C-A c.90G>T p.L30= Synonymous 2/10 - 2
7-44193018-CA-AT c.89_90delinsAT p.L30H Missense 2/10 - 1
7-44193018-CAG-AAA c.88_90delinsTTT p.L30F Missense 2/10 - 1
7-44193018-CAG-ACA c.88_90delinsTGT p.L30C Missense 2/10 - 1
7-44193018-CAG-ATA c.88_90delinsTAT p.L30Y Missense 2/10 - 1
7-44193018-CAG-GAT c.88_90delinsATC p.L30I Missense 2/10 - 1
7-44193018-CAG-GTC c.88_90delinsGAC p.L30D Missense 2/10 - 1
7-44193018-CAG-GTT c.88_90delinsAAC p.L30N Missense 2/10 - 1
7-44193018-C-G c.90G>C p.L30= Synonymous 2/10 - 2
7-44193018-C-T c.90G>A p.L30= Synonymous 2/10 - 4
7-44193020-G-A c.88C>T p.L30= Synonymous 2/10 - 2
7-44193019-A-C c.89T>G p.L30R Missense 2/10 - 1
7-44193019-A-G c.89T>C p.L30P Missense 2/10 - 8
7-44193019-AG-CA c.88_89delinsTG p.L30W Missense 2/10 - 1
7-44193019-AG-CC c.88_89delinsGG p.L30G Missense 2/10 - 1
7-44193019-AG-GA c.88_89delinsTC p.L30S Missense 2/10 - 1
7-44193019-AG-GC c.88_89delinsGC p.L30A Missense 2/10 - 1
7-44193019-AG-GT c.88_89delinsAC p.L30T Missense 2/10 - 1
7-44193019-AG-TC c.88_89delinsGA p.L30E Missense 2/10 - 1
7-44193019-AG-TT c.88_89delinsAA p.L30K Missense 2/10 - 1
7-44193019-A-T c.89T>A p.L30Q Missense 2/10 - 1
7-44193020-G-C c.88C>G p.L30V Missense 2/10 - 1
7-44193020-G-T c.88C>A p.L30M Missense 2/10 - 1
7-44193021-G-C c.87C>G p.D29E Missense 2/10 - 1
7-44193021-G-T c.87C>A p.D29E Missense 2/10 - 1
7-44193021-GTC-CAT c.85_87delinsATG p.D29M Missense 2/10 - 1
7-44193021-GTC-CCA c.85_87delinsTGG p.D29W Missense 2/10 - 1
7-44193021-GTC-CTT c.85_87delinsAAG p.D29K Missense 2/10 - 1
7-44193021-GTC-TTG c.85_87delinsCAA p.D29Q Missense 2/10 - 1
7-44193022-T-A c.86A>T p.D29V Missense 2/10 - 2
7-44193022-T-C c.86A>G p.D29G Missense 2/10 - 1
7-44193022-TC-AA c.85_86delinsTT p.D29F Missense 2/10 - 1
7-44193022-TC-AG c.85_86delinsCT p.D29L Missense 2/10 - 1
7-44193022-TC-AT c.85_86delinsAT p.D29I Missense 2/10 - 1
7-44193022-TC-CA c.85_86delinsTG p.D29C Missense 2/10 - 1
7-44193022-TC-CG c.85_86delinsCG p.D29R Missense 2/10 - 1
7-44193022-TC-CT c.85_86delinsAG p.D29S Missense 2/10 - 1
7-44193022-TC-GG c.85_86delinsCC p.D29P Missense 2/10 - 1
7-44193022-TC-GT c.85_86delinsAC p.D29T Missense 2/10 - 1
7-44193022-T-G c.86A>C p.D29A Missense 2/10 - 1
7-44193023-C-A c.85G>T p.D29Y Missense 2/10 - 1
7-44193023-C-G c.85G>C p.D29H Missense 2/10 - 1
7-44193023-C-T c.85G>A p.D29N Missense 2/10 - 1
7-44193024-C-A c.84G>T p.E28D Missense 2/10 - 1
7-44193024-C-G c.84G>C p.E28D Missense 2/10 - 1
7-44193024-C-T c.84G>A p.E28= Synonymous 2/10 - 1
7-44193024-CTC-AAA c.82_84delinsTTT p.E28F Missense 2/10 - 1
7-44193024-CTC-ACA c.82_84delinsTGT p.E28C Missense 2/10 - 1
7-44193024-CTC-ATA c.82_84delinsTAT p.E28Y Missense 2/10 - 1
7-44193024-CTC-ATG c.82_84delinsCAT p.E28H Missense 2/10 - 1
7-44193024-CTC-GAT c.82_84delinsATC p.E28I Missense 2/10 - 1
7-44193024-CTC-GTT c.82_84delinsAAC p.E28N Missense 2/10 - 1
7-44193025-CT-C c.83del p.E28Gfs*3 Frameshift 2/10 - 2
7-44193025-T-A c.83A>T p.E28V Missense 2/10 - 1
7-44193025-T-C c.83A>G p.E28G Missense 2/10 - 1
7-44193025-TC-AG c.82_83delinsCT p.E28L Missense 2/10 - 1
7-44193025-TC-AT c.82_83delinsAT p.E28M Missense 2/10 - 1
7-44193025-TC-CA c.82_83delinsTG p.E28W Missense 2/10 - 1
7-44193025-TC-CT c.82_83delinsAG p.E28R Missense 2/10 - 1
7-44193025-TC-GA c.82_83inv p.E28S Missense 2/10 - 1
7-44193025-TC-GG c.82_83delinsCC p.E28P Missense 2/10 - 1
7-44193025-TC-GT c.82_83delinsAC p.E28T Missense 2/10 - 1
7-44193025-T-G c.83A>C p.E28A Missense 2/10 - 2
7-44193026-C-A c.82G>T p.E28* Nonsense 2/10 - 1
7-44193026-C-G c.82G>C p.E28Q Missense 2/10 - 1
7-44193026-C-T c.82G>A p.E28K Missense 2/10 - 5
7-44193027-C-A c.81G>T p.E27D Missense 2/10 - 1
7-44193027-C-G c.81G>C p.E27D Missense 2/10 - 1
7-44193027-CTC-AAA c.79_81delinsTTT p.E27F Missense 2/10 - 1
7-44193027-CTC-ACA c.79_81delinsTGT p.E27C Missense 2/10 - 1
7-44193027-CTC-ATA c.79_81delinsTAT p.E27Y Missense 2/10 - 1
7-44193027-CTC-ATG c.79_81delinsCAT p.E27H Missense 2/10 - 1
7-44193027-CTC-GAT c.79_81delinsATC p.E27I Missense 2/10 - 1
7-44193027-CTC-GTT c.79_81delinsAAC p.E27N Missense 2/10 - 1
7-44193028-CT-C c.80del p.E27Gfs*4 Frameshift 2/10 - 1
7-44193028-T-A c.80A>T p.E27V Missense 2/10 - 1
7-44193028-T-C c.80A>G p.E27G Missense 2/10 - 1
7-44193028-TC-AG c.79_80delinsCT p.E27L Missense 2/10 - 1
7-44193028-TC-AT c.79_80delinsAT p.E27M Missense 2/10 - 1
7-44193028-TC-CA c.79_80delinsTG p.E27W Missense 2/10 - 1
7-44193028-TC-CT c.79_80delinsAG p.E27R Missense 2/10 - 1
7-44193028-TC-GA c.79_80inv p.E27S Missense 2/10 - 1
7-44193028-TC-GG c.79_80delinsCC p.E27P Missense 2/10 - 1
7-44193028-TC-GT c.79_80delinsAC p.E27T Missense 2/10 - 1
7-44193028-T-G c.80A>C p.E27A Missense 2/10 - 1
7-44193029-C-A c.79G>T p.E27* Nonsense 2/10 - 1
7-44193029-C-G c.79G>C p.E27Q Missense 2/10 - 1
7-44193029-C-T c.79G>A p.E27K Missense 2/10 - 3
7-44193030-C-A c.78G>T p.Q26H Missense 2/10 - 1
7-44193030-C-G c.78G>C p.Q26H Missense 2/10 - 1
7-44193030-CTG-AAA c.76_78delinsTTT p.Q26F Missense 2/10 - 1
7-44193030-CTG-ACA c.76_78delinsTGT p.Q26C Missense 2/10 - 1
7-44193030-CTG-ATA c.76_78delinsTAT p.Q26Y Missense 2/10 - 1
7-44193030-CTG-GAT c.76_78delinsATC p.Q26I Missense 2/10 - 1
7-44193030-CTG-GTC c.76_78delinsGAC p.Q26D Missense 2/10 - 1
7-44193030-CTG-GTT c.76_78delinsAAC p.Q26N Missense 2/10 - 1
7-44193031-T-A c.77A>T p.Q26L Missense 2/10 - 1
7-44193031-T-C c.77A>G p.Q26R Missense 2/10 - 1
7-44193031-T-G c.77A>C p.Q26P Missense 2/10 - 1
7-44193031-TG-AC c.76_77delinsGT p.Q26V Missense 2/10 - 1
7-44193031-TG-AT c.76_77delinsAT p.Q26M Missense 2/10 - 1
7-44193031-TG-CA c.76_77inv p.Q26W Missense 2/10 - 1
7-44193031-TG-CC c.76_77delinsGG p.Q26G Missense 2/10 - 1
7-44193031-TG-GA c.76_77delinsTC p.Q26S Missense 2/10 - 1
7-44193031-TG-GC c.76_77delinsGC p.Q26A Missense 2/10 - 1
7-44193031-TG-GT c.76_77delinsAC p.Q26T Missense 2/10 - 1
7-44193032-G-A c.76C>T p.Q26* Nonsense 2/10 - 6
7-44193032-G-C c.76C>G p.Q26E Missense 2/10 - 1
7-44193032-G-T c.76C>A p.Q26K Missense 2/10 - 1
7-44193033-C-A c.75G>T p.L25= Synonymous 2/10 - 1
7-44193033-CA-AT c.74_75delinsAT p.L25H Missense 2/10 - 1
7-44193033-CAG-AAA c.73_75delinsTTT p.L25F Missense 2/10 - 1
7-44193033-CAG-ACA c.73_75delinsTGT p.L25C Missense 2/10 - 1
7-44193033-CAG-ATA c.73_75delinsTAT p.L25Y Missense 2/10 - 1
7-44193033-CAG-GAT c.73_75delinsATC p.L25I Missense 2/10 - 1
7-44193033-CAG-GTC c.73_75delinsGAC p.L25D Missense 2/10 - 1
7-44193033-CAG-GTT c.73_75delinsAAC p.L25N Missense 2/10 - 1
7-44193034-A-C c.74T>G p.L25R Missense 2/10 - 7
7-44193034-A-G c.74T>C p.L25P Missense 2/10 - 1
7-44193034-AG-CA c.73_74delinsTG p.L25W Missense 2/10 - 1
7-44193034-AG-CC c.73_74delinsGG p.L25G Missense 2/10 - 1
7-44193034-AG-GA c.73_74delinsTC p.L25S Missense 2/10 - 1
7-44193034-AG-GC c.73_74delinsGC p.L25A Missense 2/10 - 1
7-44193034-AG-GT c.73_74delinsAC p.L25T Missense 2/10 - 1
7-44193034-AG-TC c.73_74delinsGA p.L25E Missense 2/10 - 1
7-44193034-AG-TT c.73_74delinsAA p.L25K Missense 2/10 - 1
7-44193034-A-T c.74T>A p.L25Q Missense 2/10 - 2
7-44193035-G-C c.73C>G p.L25V Missense 2/10 - 1
7-44193035-G-T c.73C>A p.L25M Missense 2/10 - 1
7-44193036-C-A c.72G>T p.Q24H Missense 2/10 - 1
7-44193036-C-G c.72G>C p.Q24H Missense 2/10 - 1
7-44193036-CTG-AAA c.70_72delinsTTT p.Q24F Missense 2/10 - 1
7-44193036-CTG-ACA c.70_72delinsTGT p.Q24C Missense 2/10 - 1
7-44193036-CTG-ATA c.70_72delinsTAT p.Q24Y Missense 2/10 - 1
7-44193036-CTG-GAT c.70_72delinsATC p.Q24I Missense 2/10 - 1
7-44193036-CTG-GTC c.70_72delinsGAC p.Q24D Missense 2/10 - 1
7-44193036-CTG-GTT c.70_72delinsAAC p.Q24N Missense 2/10 - 1
7-44193037-T-A c.71A>T p.Q24L Missense 2/10 - 1
7-44193037-T-C c.71A>G p.Q24R Missense 2/10 - 1
7-44193037-T-G c.71A>C p.Q24P Missense 2/10 - 2
7-44193037-TG-AC c.70_71delinsGT p.Q24V Missense 2/10 - 1
7-44193037-TG-AT c.70_71delinsAT p.Q24M Missense 2/10 - 1
7-44193037-TG-CA c.70_71inv p.Q24W Missense 2/10 - 1
7-44193037-TG-CC c.70_71delinsGG p.Q24G Missense 2/10 - 1
7-44193037-TG-GA c.70_71delinsTC p.Q24S Missense 2/10 - 1
7-44193037-TG-GC c.70_71delinsGC p.Q24A Missense 2/10 - 1
7-44193037-TG-GT c.70_71delinsAC p.Q24T Missense 2/10 - 1
7-44193038-G-C c.70C>G p.Q24E Missense 2/10 - 1
7-44193038-G-T c.70C>A p.Q24K Missense 2/10 - 1
7-44193039-GAA-CAT c.67_69delinsATG p.F23M Missense 2/10 - 1
7-44193039-GAA-CTC c.67_69delinsGAG p.F23E Missense 2/10 - 1
7-44193039-GAA-CTT c.67_69delinsAAG p.F23K Missense 2/10 - 1
7-44193039-GAA-TTG c.67_69delinsCAA p.F23Q Missense 2/10 - 1
7-44193039-GA-CC c.68_69delinsGG p.F23W Missense 2/10 - 1
7-44193039-GGAA-G c.67_69del p.F23del InFrameDeletion 2/10 - 1
7-44193040-AA-CC c.67_68delinsGG p.F23G Missense 2/10 - 1
7-44193040-AA-CG c.67_68delinsCG p.F23R Missense 2/10 - 1
7-44193040-AA-GC c.67_68delinsGC p.F23A Missense 2/10 - 1
7-44193040-AA-GG c.67_68delinsCC p.F23P Missense 2/10 - 1
7-44193040-AA-GT c.67_68delinsAC p.F23T Missense 2/10 - 1
7-44193040-AA-TC c.67_68delinsGA p.F23D Missense 2/10 - 1
7-44193040-AA-TG c.67_68delinsCA p.F23H Missense 2/10 - 1
7-44193040-AA-TT c.67_68inv p.F23N Missense 2/10 - 1
7-44193040-A-C c.68T>G p.F23C Missense 2/10 - 1
7-44193040-A-G c.68T>C p.F23S Missense 2/10 - 1
7-44193040-A-T c.68T>A p.F23Y Missense 2/10 - 1
7-44193039-G-C c.69C>G p.F23L Missense 2/10 - 1
7-44193039-G-T c.69C>A p.F23L Missense 2/10 - 1
7-44193041-A-C c.67T>G p.F23V Missense 2/10 - 2
7-44193041-A-G c.67T>C p.F23L Missense 2/10 - 1
7-44193041-A-T c.67T>A p.F23I Missense 2/10 - 1
7-44193042-C-A c.66G>T p.E22D Missense 2/10 - 1
7-44193042-C-G c.66G>C p.E22D Missense 2/10 - 1
7-44193042-CTC-AAA c.64_66delinsTTT p.E22F Missense 2/10 - 1
7-44193042-CTC-ACA c.64_66delinsTGT p.E22C Missense 2/10 - 1
7-44193042-CTC-ATA c.64_66delinsTAT p.E22Y Missense 2/10 - 1
7-44193042-CTC-ATG c.64_66delinsCAT p.E22H Missense 2/10 - 1
7-44193042-CTC-GAT c.64_66delinsATC p.E22I Missense 2/10 - 1
7-44193042-CTC-GTT c.64_66delinsAAC p.E22N Missense 2/10 - 1
7-44193043-T-A c.65A>T p.E22V Missense 2/10 - 1
7-44193043-T-C c.65A>G p.E22G Missense 2/10 - 2
7-44193043-TC-AG c.64_65delinsCT p.E22L Missense 2/10 - 1
7-44193043-TC-AT c.64_65delinsAT p.E22M Missense 2/10 - 1
7-44193043-TC-CA c.64_65delinsTG p.E22W Missense 2/10 - 1
7-44193043-TC-CT c.64_65delinsAG p.E22R Missense 2/10 - 1
7-44193043-TC-GA c.64_65inv p.E22S Missense 2/10 - 1
7-44193043-TC-GG c.64_65delinsCC p.E22P Missense 2/10 - 1
7-44193043-TC-GT c.64_65delinsAC p.E22T Missense 2/10 - 1
7-44193043-T-G c.65A>C p.E22A Missense 2/10 - 1
7-44193044-C-G c.64G>C p.E22Q Missense 2/10 - 2
7-44193044-C-T c.64G>A p.E22K Missense 2/10 - 1
7-44193045-T-A c.63A>T p.A21= Synonymous 2/10 - 1
7-44193045-T-C c.63A>G p.A21= Synonymous 2/10 - 1
7-44193045-T-G c.63A>C p.A21= Synonymous 2/10 - 1
7-44193045-TGC-AAA c.61_63delinsTTT p.A21F Missense 2/10 - 1
7-44193045-TGC-ACA c.61_63delinsTGT p.A21C Missense 2/10 - 1
7-44193045-TGC-ATA c.61_63delinsTAT p.A21Y Missense 2/10 - 1
7-44193045-TGC-ATG c.61_63delinsCAT p.A21H Missense 2/10 - 1
7-44193045-TGC-CAT c.61_63delinsATG p.A21M Missense 2/10 - 1
7-44193045-TGC-CCA c.61_63delinsTGG p.A21W Missense 2/10 - 1
7-44193045-TGC-GTT c.61_63delinsAAC p.A21N Missense 2/10 - 1
7-44193045-TG-GT c.62_63delinsAC p.A21D Missense 2/10 - 1
7-44193046-G-A c.62C>T p.A21V Missense 2/10 - 3
7-44193046-G-C c.62C>G p.A21G Missense 2/10 - 1
7-44193046-GC-AG c.61_62delinsCT p.A21L Missense 2/10 - 1
7-44193046-GC-AT c.61_62delinsAT p.A21I Missense 2/10 - 1
7-44193046-GC-CT c.61_62delinsAG p.A21R Missense 2/10 - 1
7-44193046-GC-TG c.61_62delinsCA p.A21Q Missense 2/10 - 1
7-44193046-GC-TT c.61_62delinsAA p.A21K Missense 2/10 - 1
7-44193046-G-T c.62C>A p.A21E Missense 2/10 - 1
7-44193047-C-A c.61G>T p.A21S Missense 2/10 - 1
7-44193047-C-G c.61G>C p.A21P Missense 2/10 - 1
7-44193047-C-T c.61G>A p.A21T Missense 2/10 - 1
7-44193048-C-A c.60G>T p.L20= Synonymous 2/10 - 1
7-44193048-CA-AT c.59_60delinsAT p.L20H Missense 2/10 - 1
7-44193048-CAG-AAA c.58_60delinsTTT p.L20F Missense 2/10 - 1
7-44193048-CAG-ACA c.58_60delinsTGT p.L20C Missense 2/10 - 1
7-44193048-CAG-ATA c.58_60delinsTAT p.L20Y Missense 2/10 - 1
7-44193048-CAG-GAT c.58_60delinsATC p.L20I Missense 2/10 - 1
7-44193048-CAG-GTC c.58_60delinsGAC p.L20D Missense 2/10 - 1
7-44193048-CAG-GTT c.58_60delinsAAC p.L20N Missense 2/10 - 1
7-44193048-C-G c.60G>C p.L20= Synonymous 2/10 - 1
7-44193048-C-T c.60G>A p.L20= Synonymous 2/10 - 1
7-44193050-G-A c.58C>T p.L20= Synonymous 2/10 - 1
7-44193049-A-C c.59T>G p.L20R Missense 2/10 - 1
7-44193049-A-G c.59T>C p.L20P Missense 2/10 - 4
7-44193049-AG-CA c.58_59delinsTG p.L20W Missense 2/10 - 1
7-44193049-AG-CC c.58_59delinsGG p.L20G Missense 2/10 - 1
7-44193049-AG-GA c.58_59delinsTC p.L20S Missense 2/10 - 1
7-44193049-AG-GC c.58_59delinsGC p.L20A Missense 2/10 - 1
7-44193049-AG-GT c.58_59delinsAC p.L20T Missense 2/10 - 1
7-44193049-AG-TC c.58_59delinsGA p.L20E Missense 2/10 - 1
7-44193049-AG-TT c.58_59delinsAA p.L20K Missense 2/10 - 1
7-44193049-A-T c.59T>A p.L20Q Missense 2/10 - 1
7-44193050-G-C c.58C>G p.L20V Missense 2/10 - 1
7-44193050-G-T c.58C>A p.L20M Missense 2/10 - 1
7-44193051-GA-CC c.56_57delinsGG p.I19R Missense 2/10 - 1
7-44193051-GA-CT c.56_57delinsAG p.I19K Missense 2/10 - 1
7-44193051-GAT-CCA c.55_57delinsTGG p.I19W Missense 2/10 - 1
7-44193051-GAT-CTC c.55_57delinsGAG p.I19E Missense 2/10 - 1
7-44193051-GAT-TTG c.55_57delinsCAA p.I19Q Missense 2/10 - 1
7-44193051-G-C c.57C>G p.I19M Missense 2/10 - 5
7-44193051-G-T c.57C>A p.I19= Synonymous 2/10 - 1
7-44193052-A-C c.56T>G p.I19S Missense 2/10 - 1
7-44193052-A-G c.56T>C p.I19T Missense 2/10 - 2
7-44193052-A-T c.56T>A p.I19N Missense 2/10 - 4
7-44193052-AT-CA c.55_56delinsTG p.I19C Missense 2/10 - 1
7-44193052-AT-CC c.55_56delinsGG p.I19G Missense 2/10 - 1
7-44193052-AT-GC c.55_56delinsGC p.I19A Missense 2/10 - 1
7-44193052-AT-GG c.55_56delinsCC p.I19P Missense 2/10 - 1
7-44193052-AT-TA c.55_56delinsTA p.I19Y Missense 2/10 - 1
7-44193052-AT-TC c.55_56delinsGA p.I19D Missense 2/10 - 1
7-44193052-AT-TG c.55_56delinsCA p.I19H Missense 2/10 - 1
7-44193053-T-A c.55A>T p.I19F Missense 2/10 - 1
7-44193053-T-C c.55A>G p.I19V Missense 2/10 - 3
7-44193053-T-G c.55A>C p.I19L Missense 2/10 - 1
7-44193054-C-A c.54G>T p.Q18H Missense 2/10 - 1
7-44193054-C-G c.54G>C p.Q18H Missense 2/10 - 1
7-44193054-CTG-AAA c.52_54delinsTTT p.Q18F Missense 2/10 - 1
7-44193054-CTG-ACA c.52_54delinsTGT p.Q18C Missense 2/10 - 1
7-44193054-CTG-ATA c.52_54delinsTAT p.Q18Y Missense 2/10 - 1
7-44193054-CTG-GAT c.52_54delinsATC p.Q18I Missense 2/10 - 1
7-44193054-CTG-GTC c.52_54delinsGAC p.Q18D Missense 2/10 - 1
7-44193054-CTG-GTT c.52_54delinsAAC p.Q18N Missense 2/10 - 1
7-44193055-T-A c.53A>T p.Q18L Missense 2/10 - 1
7-44193055-T-C c.53A>G p.Q18R Missense 2/10 - 2
7-44193055-T-G c.53A>C p.Q18P Missense 2/10 - 1
7-44193055-TG-AC c.52_53delinsGT p.Q18V Missense 2/10 - 1
7-44193055-TG-AT c.52_53delinsAT p.Q18M Missense 2/10 - 1
7-44193055-TG-CA c.52_53inv p.Q18W Missense 2/10 - 1
7-44193055-TG-CC c.52_53delinsGG p.Q18G Missense 2/10 - 1
7-44193055-TG-GA c.52_53delinsTC p.Q18S Missense 2/10 - 1
7-44193055-TG-GC c.52_53delinsGC p.Q18A Missense 2/10 - 1
7-44193055-TG-GT c.52_53delinsAC p.Q18T Missense 2/10 - 1
7-44193056-G-C c.52C>G p.Q18E Missense 2/10 - 1
7-44193056-G-T c.52C>A p.Q18K Missense 2/10 - 1
7-44193057-C-A c.51G>T p.E17D Missense 2/10 - 1
7-44193057-C-G c.51G>C p.E17D Missense 2/10 - 1
7-44193057-CTC-AAA c.49_51delinsTTT p.E17F Missense 2/10 - 1
7-44193057-CTC-ACA c.49_51delinsTGT p.E17C Missense 2/10 - 1
7-44193057-CTC-ATA c.49_51delinsTAT p.E17Y Missense 2/10 - 1
7-44193057-CTC-ATG c.49_51delinsCAT p.E17H Missense 2/10 - 2
7-44193057-CTC-GAT c.49_51delinsATC p.E17I Missense 2/10 - 1
7-44193057-CTC-GTT c.49_51delinsAAC p.E17N Missense 2/10 - 1
7-44193058-CTCT-C c.48_50del p.E17del InFrameDeletion 2/10 - 1
7-44193058-T-A c.50A>T p.E17V Missense 2/10 - 1
7-44193058-T-C c.50A>G p.E17G Missense 2/10 - 3
7-44193058-TC-AG c.49_50delinsCT p.E17L Missense 2/10 - 1
7-44193058-TC-AT c.49_50delinsAT p.E17M Missense 2/10 - 1
7-44193058-TC-CA c.49_50delinsTG p.E17W Missense 2/10 - 1
7-44193058-TC-CT c.49_50delinsAG p.E17R Missense 2/10 - 1
7-44193058-TC-GA c.49_50inv p.E17S Missense 2/10 - 1
7-44193058-TC-GG c.49_50delinsCC p.E17P Missense 2/10 - 1
7-44193058-TC-GT c.49_50delinsAC p.E17T Missense 2/10 - 1
7-44193058-T-G c.50A>C p.E17A Missense 2/10 - 1
7-44193059-C-G c.49G>C p.E17Q Missense 2/10 - 2
7-44193059-C-T c.49G>A p.E17K Missense 2/10 - 1
7-44193060-TAC-AAA c.46_48delinsTTT p.V16F Missense 2/10 - 1
7-44193060-TAC-ACA c.46_48delinsTGT p.V16C Missense 2/10 - 1
7-44193060-TAC-ATA c.46_48delinsTAT p.V16Y Missense 2/10 - 1
7-44193060-TAC-ATG c.46_48delinsCAT p.V16H Missense 2/10 - 1
7-44193060-TAC-CAT c.46_48delinsATG p.V16M Missense 2/10 - 1
7-44193060-TAC-CCA c.46_48delinsTGG p.V16W Missense 2/10 - 1
7-44193060-TAC-GTT c.46_48delinsAAC p.V16N Missense 2/10 - 1
7-44193060-TA-GT c.47_48delinsAC p.V16D Missense 2/10 - 1
7-44193061-A-C c.47T>G p.V16G Missense 2/10 - 1
7-44193061-AC-CT c.46_47delinsAG p.V16R Missense 2/10 - 1
7-44193061-AC-GA c.46_47delinsTC p.V16S Missense 2/10 - 1
7-44193061-AC-GG c.46_47delinsCC p.V16P Missense 2/10 - 1
7-44193061-AC-GT c.46_47inv p.V16T Missense 2/10 - 1
7-44193061-AC-TG c.46_47delinsCA p.V16Q Missense 2/10 - 1
7-44193061-AC-TT c.46_47delinsAA p.V16K Missense 2/10 - 1
7-44193061-A-G c.47T>C p.V16A Missense 2/10 - 1
7-44193061-A-T c.47T>A p.V16E Missense 2/10 - 2
7-44193062-C-A c.46G>T p.V16L Missense 2/10 - 1
7-44193062-C-G c.46G>C p.V16L Missense 2/10 - 1
7-44193062-C-T c.46G>A p.V16I Missense 2/10 - 1
7-44193079-A-T c.46-17T>A - IntronicSNV - 1/9 1
7-44193404-C-T c.46-342G>A - IntronicSNV - 1/9 4
7-44193462-G-T c.46-400C>A - IntronicSNV - 1/9 2
7-44194482-G-A c.46-1420C>T - IntronicSNV - 1/9 8
7-44194523-T-G c.46-1461A>C - IntronicSNV - 1/9 1
7-44194551-G-A c.46-1489C>T - IntronicSNV - 1/9 3
7-44194551-G-C c.46-1489C>G - IntronicSNV - 1/9 3
7-44194838-C-A c.46-1776G>T - IntronicSNV - 1/9 2
7-44196069-C-T c.46-3007G>A - IntronicSNV - 1/9 2
7-44197528-G-A c.46-4466C>T - IntronicSNV - 1/9 1
7-44197583-G-T c.46-4521C>A - IntronicSNV - 1/9 6
7-44197710-G-A c.46-4648C>T - IntronicSNV - 1/9 1
7-44197775-C-T c.46-4713G>A - IntronicSNV - 1/9 1
7-44198660-T-A c.46-5598A>T - IntronicSNV - 1/9 2
7-44198685-G-C c.46-5623C>G - IntronicSNV - 1/9 1
7-44198685-G-T c.46-5623C>A - IntronicSNV - 1/9 1
7-44198700-C-A c.46-5638G>T - IntronicSNV - 1/9 1
7-44198715-G-A c.46-5653C>T - IntronicSNV - 1/9 1
7-44198726-G-A c.46-5664C>T - IntronicSNV - 1/9 2
7-44198763-G-A c.46-5701C>T - IntronicSNV - 1/9 1
7-44198961-G-GC c.46-5900dup - IntronicInsertion - 1/9 1
7-44198967-T-TGG c.46-5907_46-5906dup - IntronicInsertion - 1/9 1
7-44198967-T-TG c.46-5906dup - IntronicInsertion - 1/9 1
7-44199012-C-T c.46-5950G>A - IntronicSNV - 1/9 1
7-44199142-C-T c.46-6080G>A - IntronicSNV - 1/9 5
7-44200099-G-A c.46-7037C>T - IntronicSNV - 1/9 2
7-44200099-G-T c.46-7037C>A - IntronicSNV - 1/9 2
7-44200483-A-G c.46-7421T>C - IntronicSNV - 1/9 1
7-44200884-T-C c.46-7822A>G - IntronicSNV - 1/9 3
7-44202094-G-C c.46-9032C>G - IntronicSNV - 1/9 1
7-44203006-C-T c.46-9944G>A - IntronicSNV - 1/9 5
7-44203734-T-C c.46-10672A>G - IntronicSNV - 1/9 1
7-44203912-A-G c.46-10850T>C - IntronicSNV - 1/9 1
7-44203912-A-T c.46-10850T>A - IntronicSNV - 1/9 1
7-44204322-G-A c.46-11260C>T - IntronicSNV - 1/9 3
7-44204361-G-A c.46-11299C>T - IntronicSNV - 1/9 1
7-44204361-G-C c.46-11299C>G - IntronicSNV - 1/9 1
7-44204426-C-T c.46-11364G>A - IntronicSNV - 1/9 1
7-44204994-G-A c.46-11932C>T - IntronicSNV - 1/9 1
7-44205514-A-G c.46-12452T>C - IntronicSNV - 1/9 1
7-44205514-A-T c.46-12452T>A - IntronicSNV - 1/9 1
7-44205605-G-A c.46-12543C>T - IntronicSNV - 1/9 2
7-44205605-G-C c.46-12543C>G - IntronicSNV - 1/9 2
7-44205906-A-C c.46-12844T>G - IntronicSNV - 1/9 2
7-44206824-T-C c.46-13762A>G - IntronicSNV - 1/9 1
7-44207494-T-C c.46-14432A>G - IntronicSNV - 1/9 7
7-44207888-G-C c.46-14826C>G - IntronicSNV - 1/9 1
7-44208047-C-T c.46-14985G>A - IntronicSNV - 1/9 1
7-44209322-G-A c.46-16260C>T - IntronicSNV - 1/9 1
7-44209984-G-A c.46-16922C>T - IntronicSNV - 1/9 1
7-44209984-G-C c.46-16922C>G - IntronicSNV - 1/9 1
7-44210710-C-G c.46-17648G>C - IntronicSNV - 1/9 4
7-44210710-C-T c.46-17648G>A - IntronicSNV - 1/9 4
7-44211337-T-C c.45+17171A>G - IntronicSNV - 1/9 7
7-44211407-T-C c.45+17101A>G - IntronicSNV - 1/9 1
7-44213222-A-T c.45+15286T>A - IntronicSNV - 1/9 1
7-44214163-T-C c.45+14345A>G - IntronicSNV - 1/9 1
7-44214164-C-T c.45+14344G>A - IntronicSNV - 1/9 1
7-44214514-T-C c.45+13994A>G - IntronicSNV - 1/9 1
7-44216112-G-A c.45+12396C>T - IntronicSNV - 1/9 1
7-44216137-G-A c.45+12371C>T - IntronicSNV - 1/9 12
7-44216280-G-A c.45+12228C>T - IntronicSNV - 1/9 1
7-44216546-G-A c.45+11962C>T - IntronicSNV - 1/9 1
7-44216546-G-T c.45+11962C>A - IntronicSNV - 1/9 1
7-44216598-T-C c.45+11910A>G - IntronicSNV - 1/9 5
7-44216754-C-T c.45+11754G>A - IntronicSNV - 1/9 1
7-44217126-C-T c.45+11382G>A - IntronicSNV - 1/9 3
7-44218794-T-C c.45+9714A>G - IntronicSNV - 1/9 2
7-44218856-G-A c.45+9652C>T - IntronicSNV - 1/9 2
7-44218896-C-T c.45+9612G>A - IntronicSNV - 1/9 1
7-44219074-T-C c.45+9434A>G - IntronicSNV - 1/9 1
7-44219124-T-A c.45+9384A>T - IntronicSNV - 1/9 1
7-44219338-A-G c.45+9170T>C - IntronicSNV - 1/9 4
7-44219338-A-T c.45+9170T>A - IntronicSNV - 1/9 4
7-44219705-T-C c.45+8803A>G - IntronicSNV - 1/9 3
7-44219742-C-A c.45+8766G>T - IntronicSNV - 1/9 1
7-44220684-C-T c.45+7824G>A - IntronicSNV - 1/9 1
7-44220919-C-A c.45+7589G>T - IntronicSNV - 1/9 1
7-44220919-C-T c.45+7589G>A - IntronicSNV - 1/9 1
7-44221295-G-A c.45+7213C>T - IntronicSNV - 1/9 1
7-44221302-A-G c.45+7206T>C - IntronicSNV - 1/9 1
7-44221581-A-C c.45+6927T>G - IntronicSNV - 1/9 3
7-44221581-A-T c.45+6927T>A - IntronicSNV - 1/9 3
7-44222003-G-T c.45+6505C>A - IntronicSNV - 1/9 1
7-44222220-C-G c.45+6288G>C - IntronicSNV - 1/9 3
7-44222225-G-A c.45+6283C>T - IntronicSNV - 1/9 1
7-44222225-G-C c.45+6283C>G - IntronicSNV - 1/9 1
7-44222225-G-T c.45+6283C>A - IntronicSNV - 1/9 1
7-44222471-A-C c.45+6037T>G - IntronicSNV - 1/9 3
7-44222471-A-G c.45+6037T>C - IntronicSNV - 1/9 3
7-44222802-C-T c.45+5706G>A - IntronicSNV - 1/9 6
7-44223292-T-TA c.45+5215_45+5216insT - IntronicInsertion - 1/9 1
7-44223293-G-A c.45+5215C>T - IntronicSNV - 1/9 1
7-44223295-G-A c.45+5213C>T - IntronicSNV - 1/9 1
7-44223295-G-C c.45+5213C>G - IntronicSNV - 1/9 1
7-44223295-G-T c.45+5213C>A - IntronicSNV - 1/9 1
7-44223479-G-A c.45+5029C>T - IntronicSNV - 1/9 8
7-44223479-G-C c.45+5029C>G - IntronicSNV - 1/9 8
7-44223721-G-A c.45+4787C>T - IntronicSNV - 1/9 22
7-44223942-G-A c.45+4566C>T - IntronicSNV - 1/9 14
7-44224098-C-T c.45+4410G>A - IntronicSNV - 1/9 1
7-44224851-G-A c.45+3657C>T - IntronicSNV - 1/9 1
7-44224892-A-T c.45+3616T>A - IntronicSNV - 1/9 1
7-44225829-A-G c.45+2679T>C - IntronicSNV - 1/9 1
7-44226101-C-A c.45+2407G>T - IntronicSNV - 1/9 5
7-44226101-C-T c.45+2407G>A - IntronicSNV - 1/9 5
7-44226688-C-G c.45+1820G>C - IntronicSNV - 1/9 2
7-44226688-C-T c.45+1820G>A - IntronicSNV - 1/9 2
7-44226713-G-A c.45+1795C>T - IntronicSNV - 1/9 1
7-44227020-G-T c.45+1488C>A - IntronicSNV - 1/9 3
7-44227285-A-C c.45+1223T>G - IntronicSNV - 1/9 1
7-44228263-C-T c.45+245G>A - IntronicSNV - 1/9 1
7-44228270-C-G c.45+238G>C - IntronicSNV - 1/9 1
7-44228313-G-A c.45+195C>T - IntronicSNV - 1/9 1
7-44228318-G-A c.45+190C>T - IntronicSNV - 1/9 1
7-44228336-G-C c.45+172C>G - IntronicSNV - 1/9 1
7-44228344-G-T c.45+164C>A - IntronicSNV - 1/9 1
7-44228375-C-A c.45+133G>T - IntronicSNV - 1/9 1
7-44228453-A-G c.45+55T>C - IntronicSNV - 1/9 1
7-44228492-A-G c.45+16T>C - IntronicSNV - 1/9 1
7-44228494-G-A c.45+14C>T - IntronicSNV - 1/9 1
7-44228504-A-T c.45+4T>A - IntronicSNV - 1/9 1
7-44228505-T-C c.45+3A>G - IntronicSNV - 1/9 3
7-44228507-C-A c.45+1G>T - IntronicSNV - 1/9 4
7-44228507-C-G c.45+1G>C - IntronicSNV - 1/9 1
7-44228508-C-T c.45G>A p.K15= Synonymous 1/10 - 1
7-44228509-T-C c.44A>G p.K15R Missense 1/10 - 1
7-44228511-C-T c.42G>A p.E14= Synonymous 1/10 - 1
7-44228513-C-T c.40G>A p.E14K Missense 1/10 - 5
7-44228515-T-C c.38A>G p.K13R Missense 1/10 - 1
7-44228516-T-A c.37A>T p.K13* Nonsense 1/10 - 1
7-44228513-CCTT-C c.37_39del p.K13del InFrameDeletion 1/10 - 1
7-44228518-T-C c.35A>G p.K12R Missense 1/10 - 2
7-44228519-T-C c.34A>G p.K12E Missense 1/10 - 1
7-44228520-G-A c.33C>T p.A11= Synonymous 1/10 - 1
7-44228520-G-C c.33C>G p.A11= Synonymous 1/10 - 1
7-44228520-GG-CT c.32_33delinsAG p.A11E Missense 1/10 - 1
7-44228520-G-T c.33C>A p.A11= Synonymous 1/10 - 1
7-44228521-G-C c.32C>G p.A11G Missense 1/10 - 1
7-44228521-GC-TG c.31_32delinsCA p.A11H Missense 1/10 - 1
7-44228522-C-G c.31G>C p.A11P Missense 1/10 - 1
7-44228522-C-T c.31G>A p.A11T Missense 1/10 - 12
7-44228523-G-A c.30C>T p.A10= Synonymous 1/10 - 1
7-44228523-G-C c.30C>G p.A10= Synonymous 1/10 - 1
7-44228523-GGC-CCA c.28_30delinsTGG p.A10W Missense 1/10 - 1
7-44228523-G-T c.30C>A p.A10= Synonymous 1/10 - 2
7-44228522-CG-C c.30del p.A11Pfs*6 Frameshift 1/10 - 1
7-44228524-G-A c.29C>T p.A10V Missense 1/10 - 4
7-44228524-GC-CA c.28_29delinsTG p.A10C Missense 1/10 - 1
7-44228524-GC-CG c.28_29delinsCG p.A10R Missense 1/10 - 1
7-44228524-GC-TA c.28_29delinsTA p.A10Y Missense 1/10 - 1
7-44228525-C-T c.28G>A p.A10T Missense 1/10 - 4
7-44228528-C-T c.25G>A p.E9K Missense 1/10 - 4
7-44228527-TC-T c.25del p.E9Rfs*8 Frameshift 1/10 - 1
7-44228531-T-C c.22A>G p.M8V Missense 1/10 - 1
7-44228532-C-T c.21G>A p.R7= Synonymous 1/10 - 1
7-44228534-T-G c.19A>C p.R7= Synonymous 1/10 - 1
7-44228533-C-T c.20G>A p.R7K Missense 1/10 - 1
7-44228534-T-C c.19A>G p.R7G Missense 1/10 - 1
7-44228536-G-A c.17C>T p.A6V Missense 1/10 - 1
7-44228538-T-C c.15A>G p.R5= Synonymous 1/10 - 1
7-44228540-T-G c.13A>C p.R5= Synonymous 1/10 - 1
7-44228539-C-T c.14G>A p.R5K Missense 1/10 - 1
7-44228539-CTG-C c.12_13del p.D4Efs*47 Frameshift 1/10 - 1
7-44228543-C-G c.10G>C p.D4H Missense 1/10 - 1
7-44228543-C-T c.10G>A p.D4N Missense 1/10 - 1
7-44228544-G-A c.9C>T p.D3= Synonymous 1/10 - 1
7-44228546-C-A c.7G>T p.D3Y Missense 1/10 - 2
7-44228546-C-T c.7G>A p.D3N Missense 1/10 - 1
7-44228550-C-T c.3G>A p.M1? Missense 1/10 - 1
7-44228552-T-C c.1A>G p.M1? Missense 1/10 - 1
7-44228568-C-A c.-16G>T - 5-UTRSNV 1/10 - 1
7-44228568-C-T c.-16G>A - 5-UTRSNV 1/10 - 1
7-44228636-G-A c.-84C>T - 5-UTRSNV 1/10 - 6
7-44228636-G-C c.-84C>G - 5-UTRSNV 1/10 - 6
7-44228767-T-C c.-215A>G - 5-UTRSNV 1/10 - 1
7-44229007-T-C c.-455A>G - 5-UTRSNV 1/10 - 1