334193 |
c.1443G>T |
p.R481S |
Chr.1:
157690502-157690502
on Build GRCh38
|
3863068 |
c.1515G>A |
p.P505P |
Chr.1:
157690430-157690430
on Build GRCh38
|
6583616 |
c.1480G>C |
p.E494Q |
Chr.1:
157690465-157690465
on Build GRCh38
|
5700097 |
c.1514C>A |
p.P505Q |
Chr.1:
157690431-157690431
on Build GRCh38
|
6058508 |
c.1606A>T |
p.T536S |
Chr.1:
157690339-157690339
on Build GRCh38
|
5783700 |
c.1538A>G |
p.E513G |
Chr.1:
157690407-157690407
on Build GRCh38
|
4142864 |
c.1505G>T |
p.G502V |
Chr.1:
157690440-157690440
on Build GRCh38
|
5377989 |
c.1447C>T |
p.P483S |
Chr.1:
157690498-157690498
on Build GRCh38
|
4785084 |
c.1436C>T |
p.T479I |
Chr.1:
157690509-157690509
on Build GRCh38
|
5783699 |
c.1538A>G |
p.E513G |
Chr.1:
157690407-157690407
on Build GRCh38
|
6662876 |
c.1629A>G |
p.S543S |
Chr.1:
157690316-157690316
on Build GRCh38
|
4127581 |
c.1462G>A |
p.V488M |
Chr.1:
157690483-157690483
on Build GRCh38
|
7182703 |
c.1554G>A |
p.G518G |
Chr.1:
157690391-157690391
on Build GRCh38
|
6058509 |
c.1606A>T |
p.T536S |
Chr.1:
157690339-157690339
on Build GRCh38
|
6876865 |
c.1513C>T |
p.P505S |
Chr.1:
157690432-157690432
on Build GRCh38
|
7167001 |
c.1537G>A |
p.E513K |
Chr.1:
157690408-157690408
on Build GRCh38
|
4023523 |
c.1536C>T |
p.H512H |
Chr.1:
157690409-157690409
on Build GRCh38
|
897557 |
c.1563G>A |
p.S521S |
Chr.1:
157690382-157690382
on Build GRCh38
|
320395 |
c.1412-1G>T |
p.? |
Chr.1:
157690534-157690534
on Build GRCh38
|
4529518 |
c.1618G>A |
p.G540R |
Chr.1:
157690327-157690327
on Build GRCh38
|
5700096 |
c.1514C>A |
p.P505Q |
Chr.1:
157690431-157690431
on Build GRCh38
|
3863069 |
c.1414C>T |
p.P472S |
Chr.1:
157690531-157690531
on Build GRCh38
|
6566383 |
c.1518C>T |
p.I506I |
Chr.1:
157690427-157690427
on Build GRCh38
|
7257808 |
c.1495T>G |
p.S499A |
Chr.1:
157690450-157690450
on Build GRCh38
|
676281 |
c.1560C>T |
p.I520I |
Chr.1:
157690385-157690385
on Build GRCh38
|
1185624 |
c.1429G>A |
p.V477I |
Chr.1:
157690516-157690516
on Build GRCh38
|
4529519 |
c.1618G>A |
p.G540R |
Chr.1:
157690327-157690327
on Build GRCh38
|
4468249 |
c.1534C>T |
p.H512Y |
Chr.1:
157690411-157690411
on Build GRCh38
|
4023522 |
c.1536C>T |
p.H512H |
Chr.1:
157690409-157690409
on Build GRCh38
|
4564970 |
c.1586_1587CC>TA |
p.S529L |
Chr.1:
157690358-157690359
on Build GRCh38
|
6459446 |
c.1641C>T |
p.D547D |
Chr.1:
157690304-157690304
on Build GRCh38
|
3475768 |
c.1437C>T |
p.T479T |
Chr.1:
157690508-157690508
on Build GRCh38
|
4795397 |
c.1547C>T |
p.T516I |
Chr.1:
157690398-157690398
on Build GRCh38
|
7257807 |
c.1495T>G |
p.S499A |
Chr.1:
157690450-157690450
on Build GRCh38
|
5377990 |
c.1447C>T |
p.P483S |
Chr.1:
157690498-157690498
on Build GRCh38
|
4468250 |
c.1534C>T |
p.H512Y |
Chr.1:
157690411-157690411
on Build GRCh38
|
6662877 |
c.1629A>G |
p.S543S |
Chr.1:
157690316-157690316
on Build GRCh38
|
4142865 |
c.1505G>T |
p.G502V |
Chr.1:
157690440-157690440
on Build GRCh38
|
4684232 |
c.1428C>T |
p.P476P |
Chr.1:
157690517-157690517
on Build GRCh38
|
6307242 |
c.1595T>A |
p.L532H |
Chr.1:
157690350-157690350
on Build GRCh38
|
219492 |
c.1498C>T |
p.L500L |
Chr.1:
157690447-157690447
on Build GRCh38
|
4127582 |
c.1462G>A |
p.V488M |
Chr.1:
157690483-157690483
on Build GRCh38
|
4809634 |
c.1498C>T |
p.L500L |
Chr.1:
157690447-157690447
on Build GRCh38
|
4657391 |
c.1571C>G |
p.S524C |
Chr.1:
157690374-157690374
on Build GRCh38
|
4995292 |
c.1628C>T |
p.S543L |
Chr.1:
157690317-157690317
on Build GRCh38
|
4995293 |
c.1628C>T |
p.S543L |
Chr.1:
157690317-157690317
on Build GRCh38
|
4684233 |
c.1428C>T |
p.P476P |
Chr.1:
157690517-157690517
on Build GRCh38
|
4564969 |
c.1586_1587CC>TA |
p.S529L |
Chr.1:
157690358-157690359
on Build GRCh38
|
5735687 |
c.1562C>T |
p.S521L |
Chr.1:
157690383-157690383
on Build GRCh38
|
3863070 |
c.1414C>T |
p.P472S |
Chr.1:
157690531-157690531
on Build GRCh38
|
6566384 |
c.1518C>T |
p.I506I |
Chr.1:
157690427-157690427
on Build GRCh38
|
1985264 |
c.1580G>A |
p.G527E |
Chr.1:
157690365-157690365
on Build GRCh38
|
6058506 |
c.1536C>G |
p.H512Q |
Chr.1:
157690409-157690409
on Build GRCh38
|
4657392 |
c.1571C>G |
p.S524C |
Chr.1:
157690374-157690374
on Build GRCh38
|
1335080 |
c.1436C>T |
p.T479I |
Chr.1:
157690509-157690509
on Build GRCh38
|
358223 |
c.1470_1471GG>TT |
p.G490>? |
Chr.1:
157690474-157690475
on Build GRCh38
|
7368029 |
c.1633G>A |
p.E545K |
Chr.1:
157690312-157690312
on Build GRCh38
|
5186088 |
c.1424G>A |
p.R475H |
Chr.1:
157690521-157690521
on Build GRCh38
|
1472797 |
c.1500G>C |
p.L500L |
Chr.1:
157690445-157690445
on Build GRCh38
|
7167000 |
c.1537G>A |
p.E513K |
Chr.1:
157690408-157690408
on Build GRCh38
|
6058507 |
c.1536C>G |
p.H512Q |
Chr.1:
157690409-157690409
on Build GRCh38
|
5735688 |
c.1562C>T |
p.S521L |
Chr.1:
157690383-157690383
on Build GRCh38
|
6583617 |
c.1480G>C |
p.E494Q |
Chr.1:
157690465-157690465
on Build GRCh38
|
5950641 |
c.1462G>T |
p.V488L |
Chr.1:
157690483-157690483
on Build GRCh38
|
6459447 |
c.1641C>T |
p.D547D |
Chr.1:
157690304-157690304
on Build GRCh38
|
1252332 |
c.1602G>C |
p.L534L |
Chr.1:
157690343-157690343
on Build GRCh38
|
320396 |
c.1412-2A>T |
p.? |
Chr.1:
157690535-157690535
on Build GRCh38
|
5950642 |
c.1462G>T |
p.V488L |
Chr.1:
157690483-157690483
on Build GRCh38
|
7182704 |
c.1554G>A |
p.G518G |
Chr.1:
157690391-157690391
on Build GRCh38
|
4527497 |
c.1468G>A |
p.G490R |
Chr.1:
157690477-157690477
on Build GRCh38
|
3863067 |
c.1515G>A |
p.P505P |
Chr.1:
157690430-157690430
on Build GRCh38
|
4860325 |
c.1560C>T |
p.I520I |
Chr.1:
157690385-157690385
on Build GRCh38
|
1688809 |
c.1619G>A |
p.G540E |
Chr.1:
157690326-157690326
on Build GRCh38
|
4529525 |
c.1619G>A |
p.G540E |
Chr.1:
157690326-157690326
on Build GRCh38
|
6876866 |
c.1513C>T |
p.P505S |
Chr.1:
157690432-157690432
on Build GRCh38
|
4223408 |
c.1580G>A |
p.G527E |
Chr.1:
157690365-157690365
on Build GRCh38
|
4527498 |
c.1468G>A |
p.G490R |
Chr.1:
157690477-157690477
on Build GRCh38
|
244491 |
c.1464G>T |
p.V488V |
Chr.1:
157690481-157690481
on Build GRCh38
|
6307243 |
c.1595T>A |
p.L532H |
Chr.1:
157690350-157690350
on Build GRCh38
|
4795396 |
c.1547C>T |
p.T516I |
Chr.1:
157690398-157690398
on Build GRCh38
|
272689 |
c.1424G>A |
p.R475H |
Chr.1:
157690521-157690521
on Build GRCh38
|
3475767 |
c.1437C>T |
p.T479T |
Chr.1:
157690508-157690508
on Build GRCh38
|
4813152 |
c.1500G>C |
p.L500L |
Chr.1:
157690445-157690445
on Build GRCh38
|
4870785 |
c.1563G>A |
p.S521S |
Chr.1:
157690382-157690382
on Build GRCh38
|
7368028 |
c.1633G>A |
p.E545K |
Chr.1:
157690312-157690312
on Build GRCh38
|