904480 |
c.595G>T |
p.E199* |
Chr.1:
224153220-224153220
on Build GRCh38
|
4028620 |
c.532T>C |
p.Y178H |
Chr.1:
224153157-224153157
on Build GRCh38
|
1185750 |
c.699G>T |
p.M233I |
Chr.1:
224153324-224153324
on Build GRCh38
|
5039769 |
c.701G>A |
p.G234D |
Chr.1:
224153326-224153326
on Build GRCh38
|
425418 |
c.692G>A |
p.R231K |
Chr.1:
224153317-224153317
on Build GRCh38
|
5379777 |
c.531T>A |
p.I177I |
Chr.1:
224153156-224153156
on Build GRCh38
|
3864565 |
c.566C>T |
p.A189V |
Chr.1:
224153191-224153191
on Build GRCh38
|
1960696 |
c.583G>A |
p.E195K |
Chr.1:
224153208-224153208
on Build GRCh38
|
5014189 |
c.662G>C |
p.R221T |
Chr.1:
224153287-224153287
on Build GRCh38
|
5800432 |
c.583G>T |
p.E195* |
Chr.1:
224153208-224153208
on Build GRCh38
|
7367916 |
c.700G>T |
p.G234C |
Chr.1:
224153325-224153325
on Build GRCh38
|
7367917 |
c.637G>A |
p.E213K |
Chr.1:
224153262-224153262
on Build GRCh38
|
1689905 |
c.709_710CC>TT |
p.P237L |
Chr.1:
224153334-224153335
on Build GRCh38
|
7430279 |
c.542T>C |
p.L181S |
Chr.1:
224153167-224153167
on Build GRCh38
|
5379778 |
c.532T>A |
p.Y178N |
Chr.1:
224153157-224153157
on Build GRCh38
|
4409114 |
c.536G>A |
p.R179H |
Chr.1:
224153161-224153161
on Build GRCh38
|
5907891 |
c.671C>T |
p.P224L |
Chr.1:
224153296-224153296
on Build GRCh38
|
5518251 |
c.574C>T |
p.R192* |
Chr.1:
224153199-224153199
on Build GRCh38
|
5993011 |
c.592C>G |
p.Q198E |
Chr.1:
224153217-224153217
on Build GRCh38
|