1602703 |
c.1109C>T |
p.T370M |
Chr.1:
8330602-8330602
on Build GRCh38
|
5442858 |
c.1481C>T |
p.P494L |
Chr.1:
8330872-8330872
on Build GRCh38
|
4460645 |
c.1276C>T |
p.P426S |
Chr.1:
8330667-8330667
on Build GRCh38
|
464990 |
c.1383C>T |
p.D461D |
Chr.1:
8330876-8330876
on Build GRCh38
|
5442857 |
c.1379C>T |
p.P460L |
Chr.1:
8330872-8330872
on Build GRCh38
|
6127430 |
c.1121A>G |
p.D374G |
Chr.1:
8330614-8330614
on Build GRCh38
|
4010170 |
c.1258G>A |
p.D420N |
Chr.1:
8330649-8330649
on Build GRCh38
|
3492876 |
c.1165G>A |
p.D389N |
Chr.1:
8330556-8330556
on Build GRCh38
|
3492875 |
c.1063G>A |
p.D355N |
Chr.1:
8330556-8330556
on Build GRCh38
|
426744 |
c.1335G>A |
p.P445P |
Chr.1:
8330828-8330828
on Build GRCh38
|
4727427 |
c.1373C>T |
p.A458V |
Chr.1:
8330866-8330866
on Build GRCh38
|
2243371 |
c.1122C>A |
p.D374E |
Chr.1:
8330615-8330615
on Build GRCh38
|
6271795 |
c.1371G>T |
p.L457F |
Chr.1:
8330864-8330864
on Build GRCh38
|
2243381 |
c.1380G>A |
p.P460P |
Chr.1:
8330873-8330873
on Build GRCh38
|
4464049 |
c.1316C>T |
p.S439F |
Chr.1:
8330809-8330809
on Build GRCh38
|
5343125 |
c.1436C>T |
p.P479L |
Chr.1:
8330827-8330827
on Build GRCh38
|
5732396 |
c.1277C>T |
p.P426L |
Chr.1:
8330668-8330668
on Build GRCh38
|
4242161 |
c.1137G>A |
p.T379T |
Chr.1:
8330528-8330528
on Build GRCh38
|
5732395 |
c.1175C>T |
p.P392L |
Chr.1:
8330668-8330668
on Build GRCh38
|
4242174 |
c.1482G>A |
p.P494P |
Chr.1:
8330873-8330873
on Build GRCh38
|
4727426 |
c.1318C>T |
p.R440W |
Chr.1:
8330709-8330709
on Build GRCh38
|
7213438 |
c.1492G>A |
p.G498R |
Chr.1:
8330883-8330883
on Build GRCh38
|
5992156 |
c.1195G>A |
p.A399T |
Chr.1:
8330586-8330586
on Build GRCh38
|
328035 |
c.1228G>A |
p.G410S |
Chr.1:
8330721-8330721
on Build GRCh38
|
400743 |
c.1212C>G |
p.F404L |
Chr.1:
8330705-8330705
on Build GRCh38
|
4457210 |
c.1138C>T |
p.P380S |
Chr.1:
8330529-8330529
on Build GRCh38
|
4010174 |
c.1405G>A |
p.E469K |
Chr.1:
8330898-8330898
on Build GRCh38
|
7390600 |
c.1313T>C |
p.F438S |
Chr.1:
8330704-8330704
on Build GRCh38
|
4876969 |
c.1251C>T |
p.G417G |
Chr.1:
8330642-8330642
on Build GRCh38
|
6127431 |
c.1223A>G |
p.D408G |
Chr.1:
8330614-8330614
on Build GRCh38
|
6127428 |
c.1402C>A |
p.P468T |
Chr.1:
8330895-8330895
on Build GRCh38
|
4010175 |
c.1507G>A |
p.E503K |
Chr.1:
8330898-8330898
on Build GRCh38
|
426743 |
c.1110G>A |
p.T370T |
Chr.1:
8330603-8330603
on Build GRCh38
|
4727425 |
c.1216C>T |
p.R406W |
Chr.1:
8330709-8330709
on Build GRCh38
|
3492882 |
c.1479C>T |
p.I493I |
Chr.1:
8330870-8330870
on Build GRCh38
|
2243369 |
c.1035G>A |
p.T345T |
Chr.1:
8330528-8330528
on Build GRCh38
|
6267403 |
c.1297G>T |
p.D433Y |
Chr.1:
8330790-8330790
on Build GRCh38
|
6271796 |
c.1473G>T |
p.L491F |
Chr.1:
8330864-8330864
on Build GRCh38
|
3492881 |
c.1377C>T |
p.I459I |
Chr.1:
8330870-8330870
on Build GRCh38
|
6893568 |
c.1524G>A |
p.R508R |
Chr.1:
8330915-8330915
on Build GRCh38
|
2243379 |
c.1293C>T |
p.D431D |
Chr.1:
8330786-8330786
on Build GRCh38
|
4460644 |
c.1174C>T |
p.P392S |
Chr.1:
8330667-8330667
on Build GRCh38
|
4931982 |
c.1268A>T |
p.E423V |
Chr.1:
8330761-8330761
on Build GRCh38
|
6540057 |
c.1035G>T |
p.T345T |
Chr.1:
8330528-8330528
on Build GRCh38
|
6540058 |
c.1137G>T |
p.T379T |
Chr.1:
8330528-8330528
on Build GRCh38
|
247404 |
c.1334C>T |
p.P445L |
Chr.1:
8330827-8330827
on Build GRCh38
|
4242172 |
c.1395C>T |
p.D465D |
Chr.1:
8330786-8330786
on Build GRCh38
|
3790282 |
c.1305G>A |
p.L435L |
Chr.1:
8330798-8330798
on Build GRCh38
|
289776 |
c.1358G>T |
p.R453I |
Chr.1:
8330851-8330851
on Build GRCh38
|
5832691 |
c.1067delG |
p.S356fs*3 |
Chr.1:
8330560-8330560
on Build GRCh38
|
7260875 |
c.1361A>G |
p.E454G |
Chr.1:
8330752-8330752
on Build GRCh38
|
5415772 |
c.1356T>C |
p.L452L |
Chr.1:
8330747-8330747
on Build GRCh38
|
1492155 |
c.1332G>A |
p.K444K |
Chr.1:
8330825-8330825
on Build GRCh38
|
4010171 |
c.1217G>A |
p.R406Q |
Chr.1:
8330710-8330710
on Build GRCh38
|
7302727 |
c.1202G>T |
p.S401I |
Chr.1:
8330695-8330695
on Build GRCh38
|
5415771 |
c.1254T>C |
p.L418L |
Chr.1:
8330747-8330747
on Build GRCh38
|
346599 |
c.1106G>C |
p.G369A |
Chr.1:
8330599-8330599
on Build GRCh38
|
6127429 |
c.1504C>A |
p.P502T |
Chr.1:
8330895-8330895
on Build GRCh38
|
116252 |
c.1045G>A |
p.G349S |
Chr.1:
8330538-8330538
on Build GRCh38
|
4931983 |
c.1370A>T |
p.E457V |
Chr.1:
8330761-8330761
on Build GRCh38
|
4010173 |
c.1485C>T |
p.D495D |
Chr.1:
8330876-8330876
on Build GRCh38
|
4524328 |
c.1367G>A |
p.R456K |
Chr.1:
8330758-8330758
on Build GRCh38
|
5010474 |
c.1153T>G |
p.F385V |
Chr.1:
8330544-8330544
on Build GRCh38
|
912507 |
c.1295G>T |
p.G432V |
Chr.1:
8330788-8330788
on Build GRCh38
|
3492880 |
c.1422G>A |
p.L474L |
Chr.1:
8330813-8330813
on Build GRCh38
|
5579596 |
c.1164G>A |
p.R388R |
Chr.1:
8330555-8330555
on Build GRCh38
|
6267404 |
c.1399G>T |
p.D467Y |
Chr.1:
8330790-8330790
on Build GRCh38
|
4144193 |
c.1437G>A |
p.P479P |
Chr.1:
8330828-8330828
on Build GRCh38
|
3492879 |
c.1320G>A |
p.L440L |
Chr.1:
8330813-8330813
on Build GRCh38
|
1243618 |
c.1082T>C |
p.I361T |
Chr.1:
8330575-8330575
on Build GRCh38
|
2243373 |
c.1156G>A |
p.D386N |
Chr.1:
8330649-8330649
on Build GRCh38
|
5579595 |
c.1062G>A |
p.R354R |
Chr.1:
8330555-8330555
on Build GRCh38
|
4457209 |
c.1036C>T |
p.P346S |
Chr.1:
8330529-8330529
on Build GRCh38
|
6893567 |
c.1422G>A |
p.R474R |
Chr.1:
8330915-8330915
on Build GRCh38
|
5705567 |
c.1271C>T |
p.A424V |
Chr.1:
8330662-8330662
on Build GRCh38
|
5010473 |
c.1051T>G |
p.F351V |
Chr.1:
8330544-8330544
on Build GRCh38
|
5705566 |
c.1169C>T |
p.A390V |
Chr.1:
8330662-8330662
on Build GRCh38
|
241657 |
c.1237C>T |
p.R413C |
Chr.1:
8330730-8330730
on Build GRCh38
|
4242164 |
c.1257C>T |
p.H419H |
Chr.1:
8330648-8330648
on Build GRCh38
|
7213437 |
c.1390G>A |
p.G464R |
Chr.1:
8330883-8330883
on Build GRCh38
|
6009058 |
c.1071C>T |
p.S357S |
Chr.1:
8330564-8330564
on Build GRCh38
|
4464050 |
c.1418C>T |
p.S473F |
Chr.1:
8330809-8330809
on Build GRCh38
|
7390599 |
c.1211T>C |
p.F404S |
Chr.1:
8330704-8330704
on Build GRCh38
|
4010172 |
c.1319G>A |
p.R440Q |
Chr.1:
8330710-8330710
on Build GRCh38
|
4994416 |
c.1228G>A |
p.V410I |
Chr.1:
8330619-8330619
on Build GRCh38
|
3492878 |
c.1405C>T |
p.L469L |
Chr.1:
8330796-8330796
on Build GRCh38
|
3492877 |
c.1303C>T |
p.L435L |
Chr.1:
8330796-8330796
on Build GRCh38
|
2243372 |
c.1155C>T |
p.H385H |
Chr.1:
8330648-8330648
on Build GRCh38
|
5606062 |
c.1357C>T |
p.L453L |
Chr.1:
8330748-8330748
on Build GRCh38
|
5215323 |
c.1212G>A |
p.T404T |
Chr.1:
8330603-8330603
on Build GRCh38
|
3706052 |
c.1211C>T |
p.T404M |
Chr.1:
8330602-8330602
on Build GRCh38
|
5606061 |
c.1255C>T |
p.L419L |
Chr.1:
8330748-8330748
on Build GRCh38
|
4994415 |
c.1126G>A |
p.V376I |
Chr.1:
8330619-8330619
on Build GRCh38
|
4242163 |
c.1224C>A |
p.D408E |
Chr.1:
8330615-8330615
on Build GRCh38
|
4524327 |
c.1265G>A |
p.R422K |
Chr.1:
8330758-8330758
on Build GRCh38
|
3790283 |
c.1407G>A |
p.L469L |
Chr.1:
8330798-8330798
on Build GRCh38
|
5832692 |
c.1169delG |
p.S390fs*3 |
Chr.1:
8330560-8330560
on Build GRCh38
|
4727428 |
c.1475C>T |
p.A492V |
Chr.1:
8330866-8330866
on Build GRCh38
|
5992155 |
c.1093G>A |
p.A365T |
Chr.1:
8330586-8330586
on Build GRCh38
|
6009059 |
c.1173C>T |
p.S391S |
Chr.1:
8330564-8330564
on Build GRCh38
|
331201 |
c.1149C>T |
p.G383G |
Chr.1:
8330642-8330642
on Build GRCh38
|
7302728 |
c.1304G>T |
p.S435I |
Chr.1:
8330695-8330695
on Build GRCh38
|
7260874 |
c.1259A>G |
p.E420G |
Chr.1:
8330752-8330752
on Build GRCh38
|