3484170 |
c.865G>T |
p.V289L |
Chr.1:
224157504-224157504
on Build GRCh38
|
1178044 |
c.894C>T |
p.D298D |
Chr.1:
224157533-224157533
on Build GRCh38
|
5810487 |
c.807A>T |
p.K269N |
Chr.1:
224157446-224157446
on Build GRCh38
|
6662155 |
c.947G>A |
p.R316Q |
Chr.1:
224157586-224157586
on Build GRCh38
|
679403 |
c.713T>G |
p.V238G |
Chr.1:
224157352-224157352
on Build GRCh38
|
5045761 |
c.723G>A |
p.P241P |
Chr.1:
224157362-224157362
on Build GRCh38
|
5845623 |
c.734delT |
p.L245fs*31 |
Chr.1:
224157373-224157373
on Build GRCh38
|
5845624 |
c.909delG |
p.L304fs*1 |
Chr.1:
224157548-224157548
on Build GRCh38
|
5010734 |
c.928A>G |
p.I310V |
Chr.1:
224157567-224157567
on Build GRCh38
|
5733483 |
c.742A>G |
p.M248V |
Chr.1:
224157381-224157381
on Build GRCh38
|
3864566 |
c.766C>T |
p.P256S |
Chr.1:
224157405-224157405
on Build GRCh38
|
6564720 |
c.837G>T |
p.R279S |
Chr.1:
224157476-224157476
on Build GRCh38
|
3418808 |
c.871G>A |
p.E291K |
Chr.1:
224157510-224157510
on Build GRCh38
|
1661820 |
c.934G>T |
p.E312* |
Chr.1:
224157573-224157573
on Build GRCh38
|
4683952 |
c.857G>A |
p.R286H |
Chr.1:
224157496-224157496
on Build GRCh38
|
5705236 |
c.723G>C |
p.P241P |
Chr.1:
224157362-224157362
on Build GRCh38
|
3677571 |
c.845T>A |
p.I282N |
Chr.1:
224157484-224157484
on Build GRCh38
|
7077736 |
c.786C>T |
p.T262T |
Chr.1:
224157425-224157425
on Build GRCh38
|
139363 |
c.848C>T |
p.S283F |
Chr.1:
224157487-224157487
on Build GRCh38
|
4450809 |
c.878delA |
p.K294fs*11 |
Chr.1:
224157517-224157517
on Build GRCh38
|
3789541 |
c.898G>C |
p.D300H |
Chr.1:
224157537-224157537
on Build GRCh38
|
1491949 |
c.930A>G |
p.I310M |
Chr.1:
224157569-224157569
on Build GRCh38
|