| 1302739 |
c.565G>A |
p.E189K |
Chr.17:
39462636-39462636
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|
| 6923024 |
c.508_576del69 |
p.S170_S192del23 |
Chr.17:
39462579-39462647
on Build GRCh38
|
| 6966489 |
c.544G>T |
p.E182* |
Chr.17:
39462615-39462615
on Build GRCh38
|
| 6947222 |
c.555G>C |
p.R185S |
Chr.17:
39462626-39462626
on Build GRCh38
|
| 6944110 |
c.481_482delTA |
p.Y161fs*38 |
Chr.17:
39462552-39462553
on Build GRCh38
|
| 6909838 |
c.453_468del16 |
p.K152fs*10 |
Chr.17:
39462524-39462539
on Build GRCh38
|
| 4990974 |
c.619C>T |
p.P207S |
Chr.17:
39462690-39462690
on Build GRCh38
|
| 6967163 |
c.517G>T |
p.E173* |
Chr.17:
39462588-39462588
on Build GRCh38
|
| 6944851 |
c.640G>A |
p.D214N |
Chr.17:
39462711-39462711
on Build GRCh38
|
| 978600 |
c.623A>C |
p.K208T |
Chr.17:
39462694-39462694
on Build GRCh38
|
| 6951590 |
c.541A>T |
p.K181* |
Chr.17:
39462612-39462612
on Build GRCh38
|
| 978602 |
c.637G>A |
p.V213M |
Chr.17:
39462708-39462708
on Build GRCh38
|
| 7204247 |
c.635C>T |
p.T212I |
Chr.17:
39462706-39462706
on Build GRCh38
|
| 1731617 |
c.514A>T |
p.K172* |
Chr.17:
39462585-39462585
on Build GRCh38
|
| 1200537 |
c.575C>A |
p.S192Y |
Chr.17:
39462646-39462646
on Build GRCh38
|
| 6964401 |
c.586G>T |
p.D196Y |
Chr.17:
39462657-39462657
on Build GRCh38
|
| 2837861 |
c.640G>T |
p.D214Y |
Chr.17:
39462711-39462711
on Build GRCh38
|
| 6928233 |
c.563G>A |
p.R188Q |
Chr.17:
39462634-39462634
on Build GRCh38
|
| 4803968 |
c.567G>T |
p.E189D |
Chr.17:
39462638-39462638
on Build GRCh38
|
| 5520247 |
c.639G>T |
p.V213V |
Chr.17:
39462710-39462710
on Build GRCh38
|
| 6625365 |
c.589C>T |
p.R197W |
Chr.17:
39462660-39462660
on Build GRCh38
|
| 6960909 |
c.628_629insA |
p.Y210fs*1 |
Chr.17:
39462699-39462700
on Build GRCh38
|
| 5852383 |
c.544G>A |
p.E182K |
Chr.17:
39462615-39462615
on Build GRCh38
|