3979891 |
c.336G>A |
p.W112* |
Chr.1:
15289434-15289434
on Build GRCh38
|
4491688 |
c.384C>T |
p.P128P |
Chr.1:
15289482-15289482
on Build GRCh38
|
4334857 |
c.380delC |
p.P129fs*39 |
Chr.1:
15289478-15289478
on Build GRCh38
|
4453944 |
c.373A>C |
p.N125H |
Chr.1:
15289471-15289471
on Build GRCh38
|
4142810 |
c.383C>A |
p.P128H |
Chr.1:
15289481-15289481
on Build GRCh38
|
1334898 |
c.379_380insC |
p.P130fs*99 |
Chr.1:
15289477-15289478
on Build GRCh38
|
4142811 |
c.383C>A |
p.P128H |
Chr.1:
15289481-15289481
on Build GRCh38
|
3802189 |
c.387A>C |
p.P129P |
Chr.1:
15289485-15289485
on Build GRCh38
|
4142813 |
c.494G>C |
p.R165P |
Chr.1:
15289592-15289592
on Build GRCh38
|
5704950 |
c.341G>C |
p.G114A |
Chr.1:
15289439-15289439
on Build GRCh38
|
5832323 |
c.387A>C |
p.P129P |
Chr.1:
15289485-15289485
on Build GRCh38
|
4489994 |
c.355C>T |
p.R119C |
Chr.1:
15289453-15289453
on Build GRCh38
|
1579483 |
c.382C>A |
p.P128T |
Chr.1:
15289480-15289480
on Build GRCh38
|
4334856 |
c.379_380insC |
p.P130fs*99 |
Chr.1:
15289477-15289478
on Build GRCh38
|
6835014 |
c.448C>T |
p.Q150* |
Chr.1:
15289546-15289546
on Build GRCh38
|
1983087 |
c.380delC |
p.P129fs*39 |
Chr.1:
15289478-15289478
on Build GRCh38
|
6009082 |
c.497C>T |
p.P166L |
Chr.1:
15289595-15289595
on Build GRCh38
|
6009081 |
c.497C>T |
p.P166L |
Chr.1:
15289595-15289595
on Build GRCh38
|
4453945 |
c.373A>C |
p.N125H |
Chr.1:
15289471-15289471
on Build GRCh38
|
4142812 |
c.494G>C |
p.R165P |
Chr.1:
15289592-15289592
on Build GRCh38
|
4489993 |
c.355C>T |
p.R119C |
Chr.1:
15289453-15289453
on Build GRCh38
|
6835015 |
c.448C>T |
p.Q150* |
Chr.1:
15289546-15289546
on Build GRCh38
|
5704949 |
c.341G>C |
p.G114A |
Chr.1:
15289439-15289439
on Build GRCh38
|
4491687 |
c.384C>T |
p.P128P |
Chr.1:
15289482-15289482
on Build GRCh38
|