679405 |
c.283G>C |
p.E95Q |
Chr.1:
22086543-22086543
on Build GRCh38
|
4842328 |
c.374C>T |
p.S125L |
Chr.1:
22086508-22086508
on Build GRCh38
|
7080040 |
c.218C>T |
p.P73L |
Chr.1:
22086478-22086478
on Build GRCh38
|
5414401 |
c.188A>T |
p.D63V |
Chr.1:
22086448-22086448
on Build GRCh38
|
4751154 |
c.335T>C |
p.L112P |
Chr.1:
22086469-22086469
on Build GRCh38
|
4477843 |
c.344C>T |
p.P115L |
Chr.1:
22086478-22086478
on Build GRCh38
|
6624266 |
c.243delT |
p.S83fs*11 |
Chr.1:
22086503-22086503
on Build GRCh38
|
4477844 |
c.218C>T |
p.P73L |
Chr.1:
22086478-22086478
on Build GRCh38
|
6624265 |
c.369delT |
p.S125fs*11 |
Chr.1:
22086503-22086503
on Build GRCh38
|
6624264 |
c.243delT |
p.S83fs*11 |
Chr.1:
22086503-22086503
on Build GRCh38
|
1200361 |
c.202C>T |
p.R68* |
Chr.1:
22086462-22086462
on Build GRCh38
|
904473 |
c.186G>T |
p.E62D |
Chr.1:
22086446-22086446
on Build GRCh38
|
3484166 |
c.197G>A |
p.R66K |
Chr.1:
22086457-22086457
on Build GRCh38
|
3484164 |
c.194A>T |
p.D65V |
Chr.1:
22086454-22086454
on Build GRCh38
|
3484165 |
c.323G>A |
p.R108K |
Chr.1:
22086457-22086457
on Build GRCh38
|
5782375 |
c.328C>T |
p.R110* |
Chr.1:
22086462-22086462
on Build GRCh38
|
3484163 |
c.320A>T |
p.D107V |
Chr.1:
22086454-22086454
on Build GRCh38
|
3369556 |
c.188A>T |
p.D63V |
Chr.1:
22086448-22086448
on Build GRCh38
|
3369555 |
c.314A>T |
p.D105V |
Chr.1:
22086448-22086448
on Build GRCh38
|
4842329 |
c.248C>T |
p.S83L |
Chr.1:
22086508-22086508
on Build GRCh38
|
7112867 |
c.248C>T |
p.S83L |
Chr.1:
22086508-22086508
on Build GRCh38
|
5782374 |
c.202C>T |
p.R68* |
Chr.1:
22086462-22086462
on Build GRCh38
|
4751155 |
c.209T>C |
p.L70P |
Chr.1:
22086469-22086469
on Build GRCh38
|