6057821 |
c.271T>A |
p.Y91N |
Chr.1:
118924750-118924750
on Build GRCh38
|
6797882 |
c.245C>T |
p.A82V |
Chr.1:
118924776-118924776
on Build GRCh38
|
3472157 |
c.312G>A |
p.M104I |
Chr.1:
118924709-118924709
on Build GRCh38
|
6057825 |
c.305C>A |
p.T102N |
Chr.1:
118924716-118924716
on Build GRCh38
|
6057823 |
c.302A>T |
p.D101V |
Chr.1:
118924719-118924719
on Build GRCh38
|
6570798 |
c.532C>T |
p.H178Y |
Chr.1:
118924807-118924807
on Build GRCh38
|
2179490 |
c.269T>C |
p.V90A |
Chr.1:
118924752-118924752
on Build GRCh38
|
4544398 |
c.673G>T |
p.E225* |
Chr.1:
118924666-118924666
on Build GRCh38
|
3472159 |
c.280C>T |
p.P94S |
Chr.1:
118924741-118924741
on Build GRCh38
|
4862137 |
c.557G>T |
p.G186V |
Chr.1:
118924782-118924782
on Build GRCh38
|
4732514 |
c.263_264insC |
p.R89fs*7 |
Chr.1:
118924757-118924758
on Build GRCh38
|
1716442 |
c.349A>G |
p.N117D |
Chr.1:
118924672-118924672
on Build GRCh38
|
6570797 |
c.214C>T |
p.H72Y |
Chr.1:
118924807-118924807
on Build GRCh38
|
4435979 |
c.642_646delCAGTT |
p.S215fs*1 |
Chr.1:
118924693-118924697
on Build GRCh38
|
675051 |
c.239G>T |
p.G80V |
Chr.1:
118924782-118924782
on Build GRCh38
|
4447294 |
c.693+3G>A |
p.? |
Chr.1:
118924643-118924643
on Build GRCh38
|
4768630 |
c.360G>A |
p.L120L |
Chr.1:
118924661-118924661
on Build GRCh38
|
3472161 |
c.571C>T |
p.P191S |
Chr.1:
118924768-118924768
on Build GRCh38
|
5589122 |
c.287C>T |
p.S96F |
Chr.1:
118924734-118924734
on Build GRCh38
|
4814695 |
c.652A>G |
p.K218E |
Chr.1:
118924687-118924687
on Build GRCh38
|
5589123 |
c.605C>T |
p.S202F |
Chr.1:
118924734-118924734
on Build GRCh38
|
5704879 |
c.341A>T |
p.K114M |
Chr.1:
118924680-118924680
on Build GRCh38
|
375169 |
c.254C>T |
p.P85L |
Chr.1:
118924767-118924767
on Build GRCh38
|
5704880 |
c.659A>T |
p.K220M |
Chr.1:
118924680-118924680
on Build GRCh38
|
1688410 |
c.253C>T |
p.P85S |
Chr.1:
118924768-118924768
on Build GRCh38
|
4544397 |
c.355G>T |
p.E119* |
Chr.1:
118924666-118924666
on Build GRCh38
|
4218684 |
c.587T>C |
p.V196A |
Chr.1:
118924752-118924752
on Build GRCh38
|
228800 |
c.279_280CC>TT |
p.H93>? |
Chr.1:
118924741-118924742
on Build GRCh38
|
6057824 |
c.620A>T |
p.D207V |
Chr.1:
118924719-118924719
on Build GRCh38
|
6797883 |
c.563C>T |
p.A188V |
Chr.1:
118924776-118924776
on Build GRCh38
|
233550 |
c.283G>A |
p.D95N |
Chr.1:
118924738-118924738
on Build GRCh38
|
4732515 |
c.581_582insC |
p.R195fs*7 |
Chr.1:
118924757-118924758
on Build GRCh38
|
6057822 |
c.589T>A |
p.Y197N |
Chr.1:
118924750-118924750
on Build GRCh38
|
5341479 |
c.691C>T |
p.H231Y |
Chr.1:
118924648-118924648
on Build GRCh38
|
5341478 |
c.373C>T |
p.H125Y |
Chr.1:
118924648-118924648
on Build GRCh38
|
1472474 |
c.334A>G |
p.K112E |
Chr.1:
118924687-118924687
on Build GRCh38
|
6057826 |
c.623C>A |
p.T208N |
Chr.1:
118924716-118924716
on Build GRCh38
|
4447293 |
c.375+3G>A |
p.? |
Chr.1:
118924643-118924643
on Build GRCh38
|
3472160 |
c.598C>T |
p.P200S |
Chr.1:
118924741-118924741
on Build GRCh38
|
4768631 |
c.678G>A |
p.L226L |
Chr.1:
118924661-118924661
on Build GRCh38
|
3472158 |
c.630G>A |
p.M210I |
Chr.1:
118924709-118924709
on Build GRCh38
|
4435978 |
c.324_328delCAGTT |
p.S109fs*1 |
Chr.1:
118924693-118924697
on Build GRCh38
|