363171 |
c.1403A>T |
p.Q468L |
Chr.1:
200173987-200173987
on Build GRCh38
|
5496437 |
c.1484A>G |
p.K495R |
Chr.1:
200174068-200174068
on Build GRCh38
|
4423877 |
c.1379delA |
p.D460fs*11 |
Chr.1:
200173963-200173963
on Build GRCh38
|
3664967 |
c.1428A>G |
p.Q476Q |
Chr.1:
200174012-200174012
on Build GRCh38
|
5497585 |
c.1470G>T |
p.P490P |
Chr.1:
200174054-200174054
on Build GRCh38
|
6323482 |
c.1449C>T |
p.D483D |
Chr.1:
200174033-200174033
on Build GRCh38
|
1337670 |
c.1386A>C |
p.K462N |
Chr.1:
200173970-200173970
on Build GRCh38
|
283360 |
c.1519C>T |
p.R507W |
Chr.1:
200174103-200174103
on Build GRCh38
|
7278801 |
c.1623A>G |
p.A541A |
Chr.1:
200174207-200174207
on Build GRCh38
|
322095 |
c.1573G>A |
p.D525N |
Chr.1:
200174157-200174157
on Build GRCh38
|
5545441 |
c.1401C>T |
p.F467F |
Chr.1:
200173985-200173985
on Build GRCh38
|
3803382 |
c.1438G>A |
p.A480T |
Chr.1:
200174022-200174022
on Build GRCh38
|
6534154 |
c.1468C>G |
p.P490A |
Chr.1:
200174052-200174052
on Build GRCh38
|
6572277 |
c.1480G>C |
p.E494Q |
Chr.1:
200174064-200174064
on Build GRCh38
|
6575659 |
c.1504C>T |
p.R502* |
Chr.1:
200174088-200174088
on Build GRCh38
|
4643628 |
c.1430T>C |
p.V477A |
Chr.1:
200174014-200174014
on Build GRCh38
|
3803383 |
c.1466A>G |
p.Y489C |
Chr.1:
200174050-200174050
on Build GRCh38
|
4708061 |
c.1517T>G |
p.I506S |
Chr.1:
200174101-200174101
on Build GRCh38
|
3864042 |
c.1501C>T |
p.L501F |
Chr.1:
200174085-200174085
on Build GRCh38
|
4772921 |
c.1469C>A |
p.P490Q |
Chr.1:
200174053-200174053
on Build GRCh38
|
678260 |
c.1583A>G |
p.Y528C |
Chr.1:
200174167-200174167
on Build GRCh38
|
2126106 |
c.1444C>T |
p.L482L |
Chr.1:
200174028-200174028
on Build GRCh38
|
6060627 |
c.1551C>T |
p.L517L |
Chr.1:
200174135-200174135
on Build GRCh38
|
901911 |
c.1568A>C |
p.N523T |
Chr.1:
200174152-200174152
on Build GRCh38
|
6868131 |
c.1560G>A |
p.K520K |
Chr.1:
200174144-200174144
on Build GRCh38
|
2126107 |
c.1477A>G |
p.T493A |
Chr.1:
200174061-200174061
on Build GRCh38
|
901910 |
c.1513G>A |
p.E505K |
Chr.1:
200174097-200174097
on Build GRCh38
|
2126108 |
c.1545A>G |
p.E515E |
Chr.1:
200174129-200174129
on Build GRCh38
|
4026763 |
c.1626A>C |
p.*542Y |
Chr.1:
200174210-200174210
on Build GRCh38
|
6197978 |
c.1379-4G>T |
p.? |
Chr.1:
200173959-200173959
on Build GRCh38
|
5379109 |
c.1423G>A |
p.E475K |
Chr.1:
200174007-200174007
on Build GRCh38
|
3481240 |
c.1441C>T |
p.L481L |
Chr.1:
200174025-200174025
on Build GRCh38
|
424969 |
c.1445_1447delTGG |
p.L482_D483>H |
Chr.1:
200174029-200174031
on Build GRCh38
|
4394897 |
c.1542A>G |
p.E514E |
Chr.1:
200174126-200174126
on Build GRCh38
|
5420008 |
c.1569C>T |
p.N523N |
Chr.1:
200174153-200174153
on Build GRCh38
|
3481241 |
c.1572G>A |
p.G524G |
Chr.1:
200174156-200174156
on Build GRCh38
|
6881570 |
c.1411G>A |
p.E471K |
Chr.1:
200173995-200173995
on Build GRCh38
|
6892722 |
c.1546T>G |
p.Y516D |
Chr.1:
200174130-200174130
on Build GRCh38
|