5379037 |
c.818G>A |
p.R273K |
Chr.1:
197057453-197057453
on Build GRCh38
|
6657691 |
c.900A>G |
p.I300M |
Chr.1:
197057371-197057371
on Build GRCh38
|
5844984 |
c.886G>A |
p.E296K |
Chr.1:
197057385-197057385
on Build GRCh38
|
7147554 |
c.964A>G |
p.T322A |
Chr.1:
197057307-197057307
on Build GRCh38
|
6123861 |
c.952G>A |
p.D318N |
Chr.1:
197057319-197057319
on Build GRCh38
|
5460188 |
c.944G>A |
p.R315H |
Chr.1:
197057327-197057327
on Build GRCh38
|
3480996 |
c.937G>A |
p.E313K |
Chr.1:
197057334-197057334
on Build GRCh38
|
4576726 |
c.957A>G |
p.G319G |
Chr.1:
197057314-197057314
on Build GRCh38
|
6876769 |
c.925C>T |
p.H309Y |
Chr.1:
197057346-197057346
on Build GRCh38
|
6854926 |
c.882T>C |
p.H294H |
Chr.1:
197057389-197057389
on Build GRCh38
|
901623 |
c.901G>T |
p.E301* |
Chr.1:
197057370-197057370
on Build GRCh38
|
6876770 |
c.924C>T |
p.I308I |
Chr.1:
197057347-197057347
on Build GRCh38
|
6895199 |
c.880C>T |
p.H294Y |
Chr.1:
197057391-197057391
on Build GRCh38
|
6060753 |
c.943C>A |
p.R315S |
Chr.1:
197057328-197057328
on Build GRCh38
|
379803 |
c.924C>A |
p.I308I |
Chr.1:
197057347-197057347
on Build GRCh38
|
4026587 |
c.877C>T |
p.R293C |
Chr.1:
197057394-197057394
on Build GRCh38
|
5643913 |
c.843A>G |
p.I281M |
Chr.1:
197057428-197057428
on Build GRCh38
|
122933 |
c.943C>T |
p.R315C |
Chr.1:
197057328-197057328
on Build GRCh38
|
4026586 |
c.965C>T |
p.T322I |
Chr.1:
197057306-197057306
on Build GRCh38
|
361431 |
c.886G>T |
p.E296* |
Chr.1:
197057385-197057385
on Build GRCh38
|
6477766 |
c.827C>A |
p.P276H |
Chr.1:
197057444-197057444
on Build GRCh38
|
6477235 |
c.820T>A |
p.C274S |
Chr.1:
197057451-197057451
on Build GRCh38
|
1689518 |
c.806G>A |
p.G269E |
Chr.1:
197057465-197057465
on Build GRCh38
|
1251657 |
c.873T>G |
p.T291T |
Chr.1:
197057398-197057398
on Build GRCh38
|
1500620 |
c.955G>A |
p.G319R |
Chr.1:
197057316-197057316
on Build GRCh38
|
1578239 |
c.806-1G>A |
p.? |
Chr.1:
197057466-197057466
on Build GRCh38
|
5599493 |
c.967G>A |
p.E323K |
Chr.1:
197057304-197057304
on Build GRCh38
|
160868 |
c.848C>T |
p.S283F |
Chr.1:
197057423-197057423
on Build GRCh38
|
5922008 |
c.884G>A |
p.G295E |
Chr.1:
197057387-197057387
on Build GRCh38
|
1601463 |
c.876T>C |
p.Y292Y |
Chr.1:
197057395-197057395
on Build GRCh38
|
244333 |
c.840C>T |
p.P280P |
Chr.1:
197057431-197057431
on Build GRCh38
|
678366 |
c.921G>A |
p.E307E |
Chr.1:
197057350-197057350
on Build GRCh38
|