6882982 |
c.1242G>A |
p.Q414Q |
Chr.2:
98396412-98396412
on Build GRCh38
|
4525088 |
c.1308G>A |
p.R436R |
Chr.2:
98396478-98396478
on Build GRCh38
|
4974348 |
c.1431G>A |
p.L477L |
Chr.2:
98396601-98396601
on Build GRCh38
|
7110303 |
c.1271T>C |
p.M424T |
Chr.2:
98396441-98396441
on Build GRCh38
|
4525683 |
c.1347G>A |
p.K449K |
Chr.2:
98396517-98396517
on Build GRCh38
|
5825534 |
c.1232C>T |
p.A411V |
Chr.2:
98396402-98396402
on Build GRCh38
|
6442723 |
c.1399G>C |
p.E467Q |
Chr.2:
98396569-98396569
on Build GRCh38
|
2914051 |
c.1228C>T |
p.R410W |
Chr.2:
98396398-98396398
on Build GRCh38
|
6159258 |
c.1395G>T |
p.K465N |
Chr.2:
98396565-98396565
on Build GRCh38
|
266267 |
c.1380delC |
p.P461fs*4 |
Chr.2:
98396550-98396550
on Build GRCh38
|
6159259 |
c.1317G>T |
p.R439R |
Chr.2:
98396487-98396487
on Build GRCh38
|
4924545 |
c.1385A>G |
p.D462G |
Chr.2:
98396555-98396555
on Build GRCh38
|
364506 |
c.1315C>T |
p.R439W |
Chr.2:
98396485-98396485
on Build GRCh38
|
343008 |
c.1414G>A |
p.V472M |
Chr.2:
98396584-98396584
on Build GRCh38
|
4434661 |
c.1349C>T |
p.T450M |
Chr.2:
98396519-98396519
on Build GRCh38
|
1130705 |
c.1348A>G |
p.T450A |
Chr.2:
98396518-98396518
on Build GRCh38
|
3584268 |
c.1404C>T |
p.I468I |
Chr.2:
98396574-98396574
on Build GRCh38
|
6631132 |
c.1350G>A |
p.T450T |
Chr.2:
98396520-98396520
on Build GRCh38
|
317126 |
c.1428G>T |
p.T476T |
Chr.2:
98396598-98396598
on Build GRCh38
|
6631135 |
c.1291A>T |
p.K431* |
Chr.2:
98396461-98396461
on Build GRCh38
|
5528814 |
c.1212G>A |
p.S404S |
Chr.2:
98396382-98396382
on Build GRCh38
|
7336318 |
c.1406C>T |
p.A469V |
Chr.2:
98396576-98396576
on Build GRCh38
|
3364877 |
c.1380C>T |
p.L460L |
Chr.2:
98396550-98396550
on Build GRCh38
|
2914054 |
c.1278C>G |
p.F426L |
Chr.2:
98396448-98396448
on Build GRCh38
|
1024211 |
c.1304C>T |
p.T435M |
Chr.2:
98396474-98396474
on Build GRCh38
|
2914055 |
c.1280G>A |
p.R427H |
Chr.2:
98396450-98396450
on Build GRCh38
|
1024212 |
c.1347G>T |
p.K449N |
Chr.2:
98396517-98396517
on Build GRCh38
|
6509596 |
c.1419C>A |
p.H473Q |
Chr.2:
98396589-98396589
on Build GRCh38
|
2914056 |
c.1305G>A |
p.T435T |
Chr.2:
98396475-98396475
on Build GRCh38
|
2914057 |
c.1306C>T |
p.R436W |
Chr.2:
98396476-98396476
on Build GRCh38
|
5397647 |
c.1314C>T |
p.I438I |
Chr.2:
98396484-98396484
on Build GRCh38
|
722744 |
c.1368G>C |
p.V456V |
Chr.2:
98396538-98396538
on Build GRCh38
|
3584265 |
c.1202C>T |
p.S401F |
Chr.2:
98396372-98396372
on Build GRCh38
|
5444644 |
c.1427C>T |
p.T476M |
Chr.2:
98396597-98396597
on Build GRCh38
|
3584266 |
c.1206G>A |
p.M402I |
Chr.2:
98396376-98396376
on Build GRCh38
|
3584267 |
c.1249A>C |
p.I417L |
Chr.2:
98396419-98396419
on Build GRCh38
|
6029076 |
c.1405G>A |
p.A469T |
Chr.2:
98396575-98396575
on Build GRCh38
|
3910831 |
c.1422G>C |
p.L474L |
Chr.2:
98396592-98396592
on Build GRCh38
|
7248363 |
c.1338C>A |
p.A446A |
Chr.2:
98396508-98396508
on Build GRCh38
|