3944165 |
c.459C>G |
p.D153E |
Chr.1:
51147630-51147630
on Build GRCh38
|
4453756 |
c.343A>T |
p.I115F |
Chr.1:
51147514-51147514
on Build GRCh38
|
4545024 |
c.368G>A |
p.S123N |
Chr.1:
51147539-51147539
on Build GRCh38
|
4590309 |
c.341A>G |
p.N114S |
Chr.1:
51147512-51147512
on Build GRCh38
|
1152116 |
c.360A>G |
p.S120S |
Chr.1:
51147531-51147531
on Build GRCh38
|
6540443 |
c.388A>T |
p.S130C |
Chr.1:
51147559-51147559
on Build GRCh38
|
4957377 |
c.339A>C |
p.K113N |
Chr.1:
51147510-51147510
on Build GRCh38
|
6572513 |
c.345C>G |
p.I115M |
Chr.1:
51147516-51147516
on Build GRCh38
|
1198432 |
c.410C>T |
p.T137I |
Chr.1:
51147581-51147581
on Build GRCh38
|
6835161 |
c.350G>C |
p.C117S |
Chr.1:
51147521-51147521
on Build GRCh38
|
5039179 |
c.382C>A |
p.R128S |
Chr.1:
51147553-51147553
on Build GRCh38
|
5381186 |
c.356C>T |
p.P119L |
Chr.1:
51147527-51147527
on Build GRCh38
|
1584634 |
c.382C>T |
p.R128C |
Chr.1:
51147553-51147553
on Build GRCh38
|
7241911 |
c.454G>A |
p.D152N |
Chr.1:
51147625-51147625
on Build GRCh38
|
5381188 |
c.461G>A |
p.W154* |
Chr.1:
51147632-51147632
on Build GRCh38
|
7358282 |
c.402C>A |
p.S134R |
Chr.1:
51147573-51147573
on Build GRCh38
|
2192289 |
c.335_336insA |
p.N114fs*5 |
Chr.1:
51147506-51147507
on Build GRCh38
|
5602972 |
c.361G>A |
p.E121K |
Chr.1:
51147532-51147532
on Build GRCh38
|
2192295 |
c.383G>A |
p.R128H |
Chr.1:
51147554-51147554
on Build GRCh38
|
3711356 |
c.361G>C |
p.E121Q |
Chr.1:
51147532-51147532
on Build GRCh38
|
5892533 |
c.307C>T |
p.H103Y |
Chr.1:
51147478-51147478
on Build GRCh38
|
3747002 |
c.417A>G |
p.P139P |
Chr.1:
51147588-51147588
on Build GRCh38
|