3934266 |
c.655C>T |
p.P219S |
Chr.1:
172665825-172665825
on Build GRCh38
|
3863555 |
c.541C>T |
p.L181F |
Chr.1:
172665711-172665711
on Build GRCh38
|
6459645 |
c.618C>A |
p.P206P |
Chr.1:
172665788-172665788
on Build GRCh38
|
3705246 |
c.655C>A |
p.P219T |
Chr.1:
172665825-172665825
on Build GRCh38
|
2075333 |
c.674T>C |
p.M225T |
Chr.1:
172665844-172665844
on Build GRCh38
|
5040684 |
c.654T>A |
p.Y218* |
Chr.1:
172665824-172665824
on Build GRCh38
|
1689201 |
c.661G>A |
p.D221N |
Chr.1:
172665831-172665831
on Build GRCh38
|
364219 |
c.594G>A |
p.R198R |
Chr.1:
172665764-172665764
on Build GRCh38
|
138256 |
c.595G>A |
p.G199S |
Chr.1:
172665765-172665765
on Build GRCh38
|
3478426 |
c.664C>T |
p.L222L |
Chr.1:
172665834-172665834
on Build GRCh38
|
1473007 |
c.470C>A |
p.S157Y |
Chr.1:
172665640-172665640
on Build GRCh38
|
4025141 |
c.469T>C |
p.S157P |
Chr.1:
172665639-172665639
on Build GRCh38
|
677112 |
c.481G>A |
p.E161K |
Chr.1:
172665651-172665651
on Build GRCh38
|
3984484 |
c.670A>G |
p.M224V |
Chr.1:
172665840-172665840
on Build GRCh38
|
3966042 |
c.495C>A |
p.T165T |
Chr.1:
172665665-172665665
on Build GRCh38
|
320323 |
c.533A>T |
p.K178M |
Chr.1:
172665703-172665703
on Build GRCh38
|
4454770 |
c.575A>T |
p.Y192F |
Chr.1:
172665745-172665745
on Build GRCh38
|
4410931 |
c.512T>C |
p.L171P |
Chr.1:
172665682-172665682
on Build GRCh38
|
5816267 |
c.552T>A |
p.N184K |
Chr.1:
172665722-172665722
on Build GRCh38
|
5777682 |
c.679G>C |
p.G227R |
Chr.1:
172665849-172665849
on Build GRCh38
|
5760281 |
c.624C>G |
p.S208R |
Chr.1:
172665794-172665794
on Build GRCh38
|
347738 |
c.583G>T |
p.V195L |
Chr.1:
172665753-172665753
on Build GRCh38
|
5735736 |
c.675G>T |
p.M225I |
Chr.1:
172665845-172665845
on Build GRCh38
|
7316676 |
c.549C>T |
p.I183I |
Chr.1:
172665719-172665719
on Build GRCh38
|
5727946 |
c.462C>T |
p.N154N |
Chr.1:
172665632-172665632
on Build GRCh38
|
4025142 |
c.602C>A |
p.S201Y |
Chr.1:
172665772-172665772
on Build GRCh38
|
3478425 |
c.559G>A |
p.G187R |
Chr.1:
172665729-172665729
on Build GRCh38
|
3478424 |
c.553G>A |
p.E185K |
Chr.1:
172665723-172665723
on Build GRCh38
|
3478423 |
c.515C>T |
p.S172F |
Chr.1:
172665685-172665685
on Build GRCh38
|
94272 |
c.587A>G |
p.Y196C |
Chr.1:
172665757-172665757
on Build GRCh38
|
3478422 |
c.499G>A |
p.G167R |
Chr.1:
172665669-172665669
on Build GRCh38
|
4683439 |
c.623G>A |
p.S208N |
Chr.1:
172665793-172665793
on Build GRCh38
|
1252019 |
c.592C>T |
p.R198W |
Chr.1:
172665762-172665762
on Build GRCh38
|
3478421 |
c.487G>A |
p.E163K |
Chr.1:
172665657-172665657
on Build GRCh38
|
899690 |
c.650A>C |
p.K217T |
Chr.1:
172665820-172665820
on Build GRCh38
|
4683438 |
c.464_465insA |
p.R156fs*22 |
Chr.1:
172665634-172665635
on Build GRCh38
|
4629833 |
c.641G>A |
p.R214K |
Chr.1:
172665811-172665811
on Build GRCh38
|
6122696 |
c.517G>C |
p.G173R |
Chr.1:
172665687-172665687
on Build GRCh38
|