5968995 |
c.960_962delAGA |
p.E322delE |
Chr.1:
179393999-179394001
on Build GRCh38
|
900261 |
c.994G>T |
p.E332* |
Chr.1:
179394033-179394033
on Build GRCh38
|
4836718 |
c.870G>C |
p.R290S |
Chr.1:
179393909-179393909
on Build GRCh38
|
6302299 |
c.864-9G>T |
p.? |
Chr.1:
179393894-179393894
on Build GRCh38
|
6609010 |
c.943A>G |
p.M315V |
Chr.1:
179393982-179393982
on Build GRCh38
|
5735751 |
c.956_957insT |
p.L320fs*6 |
Chr.1:
179393995-179393996
on Build GRCh38
|
4885800 |
c.981G>T |
p.K327N |
Chr.1:
179394020-179394020
on Build GRCh38
|
7279956 |
c.900G>A |
p.R300R |
Chr.1:
179393939-179393939
on Build GRCh38
|
6609018 |
c.938G>A |
p.R313Q |
Chr.1:
179393977-179393977
on Build GRCh38
|
3479222 |
c.961G>A |
p.E321K |
Chr.1:
179394000-179394000
on Build GRCh38
|
3479223 |
c.978C>T |
p.F326F |
Chr.1:
179394017-179394017
on Build GRCh38
|
5844646 |
c.899G>A |
p.R300Q |
Chr.1:
179393938-179393938
on Build GRCh38
|
5983017 |
c.937C>T |
p.R313* |
Chr.1:
179393976-179393976
on Build GRCh38
|
5065270 |
c.899G>A |
p.R300Q |
Chr.1:
179393938-179393938
on Build GRCh38
|
5215191 |
c.960_962delAGA |
p.E322delE |
Chr.1:
179393999-179394001
on Build GRCh38
|
6302300 |
c.864-9G>T |
p.? |
Chr.1:
179393894-179393894
on Build GRCh38
|
5735750 |
c.956_957insT |
p.L320fs*6 |
Chr.1:
179393995-179393996
on Build GRCh38
|
6323466 |
c.1004+8C>A |
p.? |
Chr.1:
179394051-179394051
on Build GRCh38
|
7127565 |
c.960A>T |
p.L320F |
Chr.1:
179393999-179393999
on Build GRCh38
|
3997095 |
c.969G>T |
p.L323F |
Chr.1:
179394008-179394008
on Build GRCh38
|
5827594 |
c.953G>A |
p.R318H |
Chr.1:
179393992-179393992
on Build GRCh38
|
4025589 |
c.871T>C |
p.Y291H |
Chr.1:
179393910-179393910
on Build GRCh38
|
5827593 |
c.896C>A |
p.A299D |
Chr.1:
179393935-179393935
on Build GRCh38
|
1336691 |
c.896C>A |
p.A299D |
Chr.1:
179393935-179393935
on Build GRCh38
|
4025590 |
c.911A>G |
p.D304G |
Chr.1:
179393950-179393950
on Build GRCh38
|
7127564 |
c.960A>T |
p.L320F |
Chr.1:
179393999-179393999
on Build GRCh38
|
7279957 |
c.900G>A |
p.R300R |
Chr.1:
179393939-179393939
on Build GRCh38
|
2095319 |
c.943A>G |
p.M315V |
Chr.1:
179393982-179393982
on Build GRCh38
|
900257 |
c.910G>A |
p.D304N |
Chr.1:
179393949-179393949
on Build GRCh38
|
6049114 |
c.969G>T |
p.L323F |
Chr.1:
179394008-179394008
on Build GRCh38
|
2095320 |
c.1004+8C>A |
p.? |
Chr.1:
179394051-179394051
on Build GRCh38
|
900258 |
c.953G>A |
p.R318H |
Chr.1:
179393992-179393992
on Build GRCh38
|
900259 |
c.964G>T |
p.E322* |
Chr.1:
179394003-179394003
on Build GRCh38
|
6609017 |
c.938G>A |
p.R313Q |
Chr.1:
179393977-179393977
on Build GRCh38
|
5983018 |
c.937C>T |
p.R313* |
Chr.1:
179393976-179393976
on Build GRCh38
|
900260 |
c.990T>C |
p.I330I |
Chr.1:
179394029-179394029
on Build GRCh38
|