6618669 |
c.1372T>A |
p.S458T |
Chr.2:
151839310-151839310
on Build GRCh38
|
7305637 |
c.1495G>A |
p.D499N |
Chr.2:
151839190-151839190
on Build GRCh38
|
4085626 |
c.1402G>A |
p.A468T |
Chr.2:
151839283-151839283
on Build GRCh38
|
4929395 |
c.1423T>A |
p.L475M |
Chr.2:
151839262-151839262
on Build GRCh38
|
5547634 |
c.1296_1305del10 |
p.A433fs*>51 |
Chr.2:
151839275-151839284
on Build GRCh38
|
5394564 |
c.1345G>T |
p.D449Y |
Chr.2:
151839235-151839235
on Build GRCh38
|
86824 |
c.1352A>T |
p.E451V |
Chr.2:
151839330-151839330
on Build GRCh38
|
3895000 |
c.1366C>T |
p.L456L |
Chr.2:
151839319-151839319
on Build GRCh38
|
5590025 |
c.1427C>T |
p.S476F |
Chr.2:
151839255-151839255
on Build GRCh38
|
3567933 |
c.1276G>A |
p.E426K |
Chr.2:
151839304-151839304
on Build GRCh38
|
7305636 |
c.1390G>A |
p.D464N |
Chr.2:
151839190-151839190
on Build GRCh38
|
6618676 |
c.1388A>G |
p.Y463C |
Chr.2:
151839297-151839297
on Build GRCh38
|
7305635 |
c.1492G>A |
p.D498N |
Chr.2:
151839190-151839190
on Build GRCh38
|
6049676 |
c.1311G>A |
p.R437R |
Chr.2:
151839269-151839269
on Build GRCh38
|
1247199 |
c.1445G>A |
p.R482Q |
Chr.2:
151839237-151839237
on Build GRCh38
|
4874764 |
c.1471G>T |
p.E491* |
Chr.2:
151839214-151839214
on Build GRCh38
|
4451688 |
c.1357A>G |
p.R453G |
Chr.2:
151839328-151839328
on Build GRCh38
|
7255872 |
c.1489C>T |
p.Q497* |
Chr.2:
151839193-151839193
on Build GRCh38
|
4929394 |
c.1318T>A |
p.L440M |
Chr.2:
151839262-151839262
on Build GRCh38
|
6049674 |
c.1413G>A |
p.R471R |
Chr.2:
151839269-151839269
on Build GRCh38
|
7255873 |
c.1387C>T |
p.Q463* |
Chr.2:
151839193-151839193
on Build GRCh38
|
6618672 |
c.1375T>A |
p.S459T |
Chr.2:
151839310-151839310
on Build GRCh38
|
4085625 |
c.1297G>A |
p.A433T |
Chr.2:
151839283-151839283
on Build GRCh38
|
354764 |
c.1320C>T |
p.H440H |
Chr.2:
151839362-151839362
on Build GRCh38
|
5984754 |
c.1307A>T |
p.Q436L |
Chr.2:
151839375-151839375
on Build GRCh38
|
1007843 |
c.1402C>T |
p.R468W |
Chr.2:
151839280-151839280
on Build GRCh38
|
4085620 |
c.1475A>G |
p.Y492C |
Chr.2:
151839207-151839207
on Build GRCh38
|
4836919 |
c.1438C>T |
p.Q480* |
Chr.2:
151839247-151839247
on Build GRCh38
|
4304471 |
c.1436C>T |
p.S479F |
Chr.2:
151839249-151839249
on Build GRCh38
|
5547635 |
c.1401_1410del10 |
p.A468fs*>51 |
Chr.2:
151839275-151839284
on Build GRCh38
|
1741596 |
c.1201-1G>A |
p.? |
Chr.2:
151839380-151839380
on Build GRCh38
|
3298722 |
c.1433C>T |
p.S478F |
Chr.2:
151839249-151839249
on Build GRCh38
|
3961299 |
c.1346C>G |
p.P449R |
Chr.2:
151839336-151839336
on Build GRCh38
|
3894999 |
c.1261C>T |
p.L421L |
Chr.2:
151839319-151839319
on Build GRCh38
|
399072 |
c.1399G>T |
p.A467S |
Chr.2:
151839283-151839283
on Build GRCh38
|
1590650 |
c.1282T>G |
p.Y428D |
Chr.2:
151839298-151839298
on Build GRCh38
|
6618671 |
c.1270T>A |
p.S424T |
Chr.2:
151839310-151839310
on Build GRCh38
|
3567934 |
c.1381G>A |
p.E461K |
Chr.2:
151839304-151839304
on Build GRCh38
|
3894998 |
c.1363C>T |
p.L455L |
Chr.2:
151839319-151839319
on Build GRCh38
|
6049677 |
c.1416G>A |
p.R472R |
Chr.2:
151839269-151839269
on Build GRCh38
|
1741595 |
c.1303-1G>A |
p.? |
Chr.2:
151839380-151839380
on Build GRCh38
|
5590027 |
c.1325C>T |
p.S442F |
Chr.2:
151839255-151839255
on Build GRCh38
|
6618657 |
c.1310G>A |
p.R437Q |
Chr.2:
151839372-151839372
on Build GRCh38
|
4085622 |
c.1478A>G |
p.Y493C |
Chr.2:
151839207-151839207
on Build GRCh38
|
6618659 |
c.1208G>A |
p.R403Q |
Chr.2:
151839372-151839372
on Build GRCh38
|
4836917 |
c.1435C>T |
p.Q479* |
Chr.2:
151839247-151839247
on Build GRCh38
|
5394565 |
c.1450G>T |
p.D484Y |
Chr.2:
151839235-151839235
on Build GRCh38
|
3961301 |
c.1349C>G |
p.P450R |
Chr.2:
151839336-151839336
on Build GRCh38
|
5984757 |
c.1310A>T |
p.Q437L |
Chr.2:
151839375-151839375
on Build GRCh38
|
7255874 |
c.1492C>T |
p.Q498* |
Chr.2:
151839193-151839193
on Build GRCh38
|
4451687 |
c.1252A>G |
p.R418G |
Chr.2:
151839328-151839328
on Build GRCh38
|
5547632 |
c.1398_1407del10 |
p.A467fs*>51 |
Chr.2:
151839275-151839284
on Build GRCh38
|
4873948 |
c.1405C>T |
p.R469W |
Chr.2:
151839280-151839280
on Build GRCh38
|
4451685 |
c.1354A>G |
p.R452G |
Chr.2:
151839328-151839328
on Build GRCh38
|
6618660 |
c.1313G>A |
p.R438Q |
Chr.2:
151839372-151839372
on Build GRCh38
|
3567932 |
c.1378G>A |
p.E460K |
Chr.2:
151839304-151839304
on Build GRCh38
|
4871720 |
c.1387T>G |
p.Y463D |
Chr.2:
151839298-151839298
on Build GRCh38
|
5394562 |
c.1447G>T |
p.D483Y |
Chr.2:
151839235-151839235
on Build GRCh38
|
5984756 |
c.1205A>T |
p.Q402L |
Chr.2:
151839375-151839375
on Build GRCh38
|
4085621 |
c.1373A>G |
p.Y458C |
Chr.2:
151839207-151839207
on Build GRCh38
|
4085624 |
c.1399G>A |
p.A467T |
Chr.2:
151839283-151839283
on Build GRCh38
|
1007845 |
c.1384T>G |
p.Y462D |
Chr.2:
151839298-151839298
on Build GRCh38
|
3298723 |
c.1331C>T |
p.S444F |
Chr.2:
151839249-151839249
on Build GRCh38
|
4873947 |
c.1300C>T |
p.R434W |
Chr.2:
151839280-151839280
on Build GRCh38
|
3961300 |
c.1244C>G |
p.P415R |
Chr.2:
151839336-151839336
on Build GRCh38
|
5590028 |
c.1430C>T |
p.S477F |
Chr.2:
151839255-151839255
on Build GRCh38
|
6618673 |
c.1385A>G |
p.Y462C |
Chr.2:
151839297-151839297
on Build GRCh38
|
1590651 |
c.1366G>T |
p.E456* |
Chr.2:
151839214-151839214
on Build GRCh38
|
4836918 |
c.1333C>T |
p.Q445* |
Chr.2:
151839247-151839247
on Build GRCh38
|
6618675 |
c.1283A>G |
p.Y428C |
Chr.2:
151839297-151839297
on Build GRCh38
|
4929393 |
c.1420T>A |
p.L474M |
Chr.2:
151839262-151839262
on Build GRCh38
|
1007841 |
c.1468G>T |
p.E490* |
Chr.2:
151839214-151839214
on Build GRCh38
|