4007375 |
c.1417G>A |
p.V473I |
Chr.1:
35563233-35563233
on Build GRCh38
|
4007377 |
c.1430C>A |
p.P477H |
Chr.1:
35563246-35563246
on Build GRCh38
|
4705857 |
c.1355delG |
p.C452fs*3 |
Chr.1:
35563222-35563222
on Build GRCh38
|
4007372 |
c.1416C>T |
p.T472T |
Chr.1:
35563232-35563232
on Build GRCh38
|
2080580 |
c.1502C>T |
p.T501I |
Chr.1:
35563318-35563318
on Build GRCh38
|
4007380 |
c.1439T>A |
p.I480N |
Chr.1:
35563255-35563255
on Build GRCh38
|
3711339 |
c.1408C>T |
p.P470S |
Chr.1:
35563275-35563275
on Build GRCh38
|
4705859 |
c.1442G>T |
p.W481L |
Chr.1:
35563309-35563309
on Build GRCh38
|
6722850 |
c.1413G>A |
p.S471S |
Chr.1:
35563280-35563280
on Build GRCh38
|
2080578 |
c.1457delC |
p.S488fs*48 |
Chr.1:
35563273-35563273
on Build GRCh38
|
5880626 |
c.1559_1560insT |
p.C521fs*19 |
Chr.1:
35563375-35563376
on Build GRCh38
|
83889 |
c.1472C>T |
p.S491L |
Chr.1:
35563339-35563339
on Build GRCh38
|
1470226 |
c.1404G>T |
p.G468G |
Chr.1:
35563271-35563271
on Build GRCh38
|
5880623 |
c.1556_1557insT |
p.Q519fs*21 |
Chr.1:
35563372-35563373
on Build GRCh38
|
5728464 |
c.1389C>T |
p.I463I |
Chr.1:
35563256-35563256
on Build GRCh38
|
3488938 |
c.1431C>T |
p.F477F |
Chr.1:
35563298-35563298
on Build GRCh38
|
6722865 |
c.1540G>A |
p.V514M |
Chr.1:
35563356-35563356
on Build GRCh38
|
6722836 |
c.1512C>T |
p.C504C |
Chr.1:
35563379-35563379
on Build GRCh38
|
4007381 |
c.1388T>A |
p.I463N |
Chr.1:
35563255-35563255
on Build GRCh38
|
235021 |
c.1440G>A |
p.Q480Q |
Chr.1:
35563307-35563307
on Build GRCh38
|
4705856 |
c.1406delG |
p.C469fs*3 |
Chr.1:
35563222-35563222
on Build GRCh38
|
4007376 |
c.1366G>A |
p.V456I |
Chr.1:
35563233-35563233
on Build GRCh38
|
3488937 |
c.1482C>T |
p.F494F |
Chr.1:
35563298-35563298
on Build GRCh38
|
5880628 |
c.340_341insT |
p.T114fs*20 |
Chr.1:
35563375-35563376
on Build GRCh38
|
4007378 |
c.1379C>A |
p.P460H |
Chr.1:
35563246-35563246
on Build GRCh38
|
4705858 |
c.1493G>T |
p.W498L |
Chr.1:
35563309-35563309
on Build GRCh38
|
3711338 |
c.1459C>T |
p.P487S |
Chr.1:
35563275-35563275
on Build GRCh38
|
6722849 |
c.1464G>A |
p.S488S |
Chr.1:
35563280-35563280
on Build GRCh38
|
3711340 |
c.240C>T |
p.A80A |
Chr.1:
35563275-35563275
on Build GRCh38
|
5880624 |
c.1505_1506insT |
p.Q502fs*21 |
Chr.1:
35563372-35563373
on Build GRCh38
|
5880627 |
c.1508_1509insT |
p.C504fs*19 |
Chr.1:
35563375-35563376
on Build GRCh38
|
2080581 |
c.1451C>T |
p.T484I |
Chr.1:
35563318-35563318
on Build GRCh38
|
5728463 |
c.1440C>T |
p.I480I |
Chr.1:
35563256-35563256
on Build GRCh38
|
1470225 |
c.1455G>T |
p.G485G |
Chr.1:
35563271-35563271
on Build GRCh38
|
6722835 |
c.1563C>T |
p.C521C |
Chr.1:
35563379-35563379
on Build GRCh38
|
4007373 |
c.1365C>T |
p.T455T |
Chr.1:
35563232-35563232
on Build GRCh38
|
5880625 |
c.337_338insT |
p.Q113fs*21 |
Chr.1:
35563372-35563373
on Build GRCh38
|
4007374 |
c.197C>T |
p.T66I |
Chr.1:
35563232-35563232
on Build GRCh38
|
6722866 |
c.1489G>A |
p.V497M |
Chr.1:
35563356-35563356
on Build GRCh38
|
4007379 |
c.211C>A |
p.P71T |
Chr.1:
35563246-35563246
on Build GRCh38
|
2080579 |
c.1406delC |
p.S471fs*48 |
Chr.1:
35563273-35563273
on Build GRCh38
|