2068275 |
c.1540G>C |
p.E514Q |
Chr.12:
4627362-4627362
on Build GRCh38
|
6243638 |
c.1437T>C |
p.F479F |
Chr.12:
4627465-4627465
on Build GRCh38
|
333542 |
c.1479C>G |
p.S493S |
Chr.12:
4627423-4627423
on Build GRCh38
|
1147015 |
c.1617G>T |
p.L539L |
Chr.12:
4627285-4627285
on Build GRCh38
|
3461076 |
c.1591G>A |
p.A531T |
Chr.12:
4627311-4627311
on Build GRCh38
|
4466037 |
c.1412C>T |
p.S471F |
Chr.12:
4627490-4627490
on Build GRCh38
|
4467457 |
c.1490C>T |
p.P497L |
Chr.12:
4627412-4627412
on Build GRCh38
|
3461080 |
c.1422C>T |
p.F474F |
Chr.12:
4627480-4627480
on Build GRCh38
|
1322493 |
c.1635G>T |
p.R545S |
Chr.12:
4627267-4627267
on Build GRCh38
|
5983671 |
c.1624G>A |
p.G542R |
Chr.12:
4627278-4627278
on Build GRCh38
|
1676639 |
c.1533G>T |
p.E511D |
Chr.12:
4627369-4627369
on Build GRCh38
|
3461081 |
c.1422C>T |
p.F474F |
Chr.12:
4627480-4627480
on Build GRCh38
|
4466038 |
c.1412C>T |
p.S471F |
Chr.12:
4627490-4627490
on Build GRCh38
|
4467458 |
c.1490C>T |
p.P497L |
Chr.12:
4627412-4627412
on Build GRCh38
|
939628 |
c.1457G>A |
p.R486H |
Chr.12:
4627445-4627445
on Build GRCh38
|
1586504 |
c.1457G>A |
p.R486H |
Chr.12:
4627445-4627445
on Build GRCh38
|
6072614 |
c.1542G>T |
p.E514D |
Chr.12:
4627360-4627360
on Build GRCh38
|
3461077 |
c.1591G>A |
p.A531T |
Chr.12:
4627311-4627311
on Build GRCh38
|
1152515 |
c.1623G>T |
p.Q541H |
Chr.12:
4627279-4627279
on Build GRCh38
|
5526480 |
c.1634G>A |
p.R545K |
Chr.12:
4627268-4627268
on Build GRCh38
|
693871 |
c.1618G>T |
p.A540S |
Chr.12:
4627284-4627284
on Build GRCh38
|
5983672 |
c.1624G>A |
p.G542R |
Chr.12:
4627278-4627278
on Build GRCh38
|
3753242 |
c.1499T>C |
p.I500T |
Chr.12:
4627403-4627403
on Build GRCh38
|
5495132 |
c.1567T>A |
p.W523R |
Chr.12:
4627335-4627335
on Build GRCh38
|
693868 |
c.1495G>A |
p.D499N |
Chr.12:
4627407-4627407
on Build GRCh38
|
6072613 |
c.1542G>T |
p.E514D |
Chr.12:
4627360-4627360
on Build GRCh38
|
1147013 |
c.1618G>T |
p.A540S |
Chr.12:
4627284-4627284
on Build GRCh38
|
107516 |
c.1555G>A |
p.D519N |
Chr.12:
4627347-4627347
on Build GRCh38
|
1147016 |
c.1495G>A |
p.D499N |
Chr.12:
4627407-4627407
on Build GRCh38
|
3461074 |
c.1612C>T |
p.H538Y |
Chr.12:
4627290-4627290
on Build GRCh38
|
5526481 |
c.1634G>A |
p.R545K |
Chr.12:
4627268-4627268
on Build GRCh38
|
4467235 |
c.1478C>T |
p.S493F |
Chr.12:
4627424-4627424
on Build GRCh38
|
3461078 |
c.1584C>T |
p.I528I |
Chr.12:
4627318-4627318
on Build GRCh38
|
7303719 |
c.1515_1539del25 |
p.P506fs*14 |
Chr.12:
4627363-4627387
on Build GRCh38
|
3986939 |
c.1489C>G |
p.P497A |
Chr.12:
4627413-4627413
on Build GRCh38
|
7303720 |
c.1515_1539del25 |
p.P506fs*14 |
Chr.12:
4627363-4627387
on Build GRCh38
|
5495133 |
c.1567T>A |
p.W523R |
Chr.12:
4627335-4627335
on Build GRCh38
|
6243639 |
c.1437T>C |
p.F479F |
Chr.12:
4627465-4627465
on Build GRCh38
|
1676638 |
c.1533G>T |
p.E511D |
Chr.12:
4627369-4627369
on Build GRCh38
|
278739 |
c.1471G>T |
p.D491Y |
Chr.12:
4627431-4627431
on Build GRCh38
|
1322494 |
c.1635G>T |
p.R545S |
Chr.12:
4627267-4627267
on Build GRCh38
|
3461079 |
c.1584C>T |
p.I528I |
Chr.12:
4627318-4627318
on Build GRCh38
|
4467236 |
c.1478C>T |
p.S493F |
Chr.12:
4627424-4627424
on Build GRCh38
|
3753241 |
c.1499T>C |
p.I500T |
Chr.12:
4627403-4627403
on Build GRCh38
|
3986940 |
c.1489C>G |
p.P497A |
Chr.12:
4627413-4627413
on Build GRCh38
|
6072612 |
c.1479C>G |
p.S493S |
Chr.12:
4627423-4627423
on Build GRCh38
|
3461075 |
c.1612C>T |
p.H538Y |
Chr.12:
4627290-4627290
on Build GRCh38
|
128607 |
c.1599delT |
p.L534fs*1 |
Chr.12:
4627303-4627303
on Build GRCh38
|
693869 |
c.1617G>T |
p.L539L |
Chr.12:
4627285-4627285
on Build GRCh38
|
2068276 |
c.1540G>C |
p.E514Q |
Chr.12:
4627362-4627362
on Build GRCh38
|
939627 |
c.1623G>T |
p.Q541H |
Chr.12:
4627279-4627279
on Build GRCh38
|