116919 |
c.382A>C |
p.K128Q |
Chr.1:
236482383-236482383
on Build GRCh38
|
1185796 |
c.404C>A |
p.T135K |
Chr.1:
236482405-236482405
on Build GRCh38
|
6062123 |
c.387G>T |
p.L129L |
Chr.1:
236482388-236482388
on Build GRCh38
|
6062125 |
c.328C>A |
p.P110T |
Chr.1:
236482329-236482329
on Build GRCh38
|
5827778 |
c.339C>T |
p.D113D |
Chr.1:
236482370-236482370
on Build GRCh38
|
1235063 |
c.449A>C |
p.Y150S |
Chr.1:
236482450-236482450
on Build GRCh38
|
5599451 |
c.240C>T |
p.I80I |
Chr.1:
236482271-236482271
on Build GRCh38
|
3485609 |
c.279C>T |
p.D93D |
Chr.1:
236482280-236482280
on Build GRCh38
|
3485610 |
c.329C>T |
p.P110L |
Chr.1:
236482330-236482330
on Build GRCh38
|
5629020 |
c.325C>G |
p.Q109E |
Chr.1:
236482356-236482356
on Build GRCh38
|
5735908 |
c.362C>T |
p.P121L |
Chr.1:
236482393-236482393
on Build GRCh38
|
6651539 |
c.366T>A |
p.C122* |
Chr.1:
236482397-236482397
on Build GRCh38
|
5735907 |
c.392C>T |
p.P131L |
Chr.1:
236482393-236482393
on Build GRCh38
|
5166225 |
c.312C>T |
p.D104D |
Chr.1:
236482343-236482343
on Build GRCh38
|
5845933 |
c.419G>A |
p.R140K |
Chr.1:
236482420-236482420
on Build GRCh38
|
6651546 |
c.375G>A |
p.T125T |
Chr.1:
236482406-236482406
on Build GRCh38
|
5046184 |
c.387G>C |
p.W129C |
Chr.1:
236482418-236482418
on Build GRCh38
|
5046183 |
c.417G>C |
p.W139C |
Chr.1:
236482418-236482418
on Build GRCh38
|
274935 |
c.415T>C |
p.W139R |
Chr.1:
236482416-236482416
on Build GRCh38
|
6651535 |
c.364T>C |
p.C122R |
Chr.1:
236482395-236482395
on Build GRCh38
|
5599450 |
c.270C>T |
p.I90I |
Chr.1:
236482271-236482271
on Build GRCh38
|
6651537 |
c.242G>A |
p.S81N |
Chr.1:
236482273-236482273
on Build GRCh38
|
5629019 |
c.355C>G |
p.Q119E |
Chr.1:
236482356-236482356
on Build GRCh38
|
6651545 |
c.405G>A |
p.T135T |
Chr.1:
236482406-236482406
on Build GRCh38
|
4889908 |
c.431G>T |
p.C144F |
Chr.1:
236482462-236482462
on Build GRCh38
|
4889907 |
c.461G>T |
p.C154F |
Chr.1:
236482462-236482462
on Build GRCh38
|
6371092 |
c.257G>A |
p.C86Y |
Chr.1:
236482288-236482288
on Build GRCh38
|
4910408 |
c.298C>T |
p.P100S |
Chr.1:
236482329-236482329
on Build GRCh38
|
4910407 |
c.328C>T |
p.P110S |
Chr.1:
236482329-236482329
on Build GRCh38
|
680027 |
c.324G>T |
p.R108R |
Chr.1:
236482325-236482325
on Build GRCh38
|
6651538 |
c.396T>A |
p.C132* |
Chr.1:
236482397-236482397
on Build GRCh38
|
6062124 |
c.357G>T |
p.L119L |
Chr.1:
236482388-236482388
on Build GRCh38
|
6062126 |
c.298C>A |
p.P100T |
Chr.1:
236482329-236482329
on Build GRCh38
|
4577042 |
c.349A>G |
p.N117D |
Chr.1:
236482350-236482350
on Build GRCh38
|
4233806 |
c.319C>T |
p.L107F |
Chr.1:
236482320-236482320
on Build GRCh38
|
1340352 |
c.342C>T |
p.D114D |
Chr.1:
236482343-236482343
on Build GRCh38
|
4333252 |
c.316T>A |
p.L106M |
Chr.1:
236482317-236482317
on Build GRCh38
|
4395111 |
c.347T>C |
p.L116P |
Chr.1:
236482348-236482348
on Build GRCh38
|
6651534 |
c.394T>C |
p.C132R |
Chr.1:
236482395-236482395
on Build GRCh38
|
6651536 |
c.272G>A |
p.S91N |
Chr.1:
236482273-236482273
on Build GRCh38
|
1637503 |
c.323G>A |
p.R108Q |
Chr.1:
236482324-236482324
on Build GRCh38
|
5845934 |
c.389G>A |
p.R130K |
Chr.1:
236482420-236482420
on Build GRCh38
|
3751016 |
c.369C>T |
p.D123D |
Chr.1:
236482370-236482370
on Build GRCh38
|
6371091 |
c.287G>A |
p.C96Y |
Chr.1:
236482288-236482288
on Build GRCh38
|