5926241 |
c.751C>T |
p.H251Y |
Chr.1:
196959018-196959018
on Build GRCh38
|
1337521 |
c.659A>T |
p.K220I |
Chr.1:
196958926-196958926
on Build GRCh38
|
678388 |
c.761G>A |
p.R254Q |
Chr.1:
196959028-196959028
on Build GRCh38
|
678389 |
c.675C>A |
p.N225K |
Chr.1:
196958942-196958942
on Build GRCh38
|
3480918 |
c.760C>T |
p.R254* |
Chr.1:
196959027-196959027
on Build GRCh38
|
6060775 |
c.794C>A |
p.P265H |
Chr.1:
196959061-196959061
on Build GRCh38
|
7103763 |
c.654C>T |
p.N218N |
Chr.1:
196958921-196958921
on Build GRCh38
|
107531 |
c.692C>T |
p.S231L |
Chr.1:
196958959-196958959
on Build GRCh38
|
3480919 |
c.793C>T |
p.P265S |
Chr.1:
196959060-196959060
on Build GRCh38
|
3480916 |
c.642G>A |
p.M214I |
Chr.1:
196958909-196958909
on Build GRCh38
|
6060097 |
c.669G>A |
p.W223* |
Chr.1:
196958936-196958936
on Build GRCh38
|
3480917 |
c.755C>T |
p.S252L |
Chr.1:
196959022-196959022
on Build GRCh38
|
4026551 |
c.708A>G |
p.I236M |
Chr.1:
196958975-196958975
on Build GRCh38
|
6477573 |
c.786G>C |
p.L262L |
Chr.1:
196959053-196959053
on Build GRCh38
|
5682328 |
c.787G>T |
p.V263L |
Chr.1:
196959054-196959054
on Build GRCh38
|
6576001 |
c.721T>A |
p.C241S |
Chr.1:
196958988-196958988
on Build GRCh38
|
6459879 |
c.789A>T |
p.V263V |
Chr.1:
196959056-196959056
on Build GRCh38
|
4026550 |
c.664A>T |
p.K222* |
Chr.1:
196958931-196958931
on Build GRCh38
|
6584150 |
c.774G>C |
p.Q258H |
Chr.1:
196959041-196959041
on Build GRCh38
|
5700618 |
c.797G>T |
p.S266I |
Chr.1:
196959064-196959064
on Build GRCh38
|
5718875 |
c.634G>T |
p.E212* |
Chr.1:
196958901-196958901
on Build GRCh38
|
222612 |
c.622G>A |
p.V208I |
Chr.1:
196958889-196958889
on Build GRCh38
|
2125050 |
c.780G>A |
p.G260G |
Chr.1:
196959047-196959047
on Build GRCh38
|
3863971 |
c.813G>A |
p.*271* |
Chr.1:
196959080-196959080
on Build GRCh38
|
1162717 |
c.653A>T |
p.N218I |
Chr.1:
196958920-196958920
on Build GRCh38
|
901599 |
c.616C>A |
p.P206T |
Chr.1:
196958883-196958883
on Build GRCh38
|
1248157 |
c.695G>T |
p.R232I |
Chr.1:
196958962-196958962
on Build GRCh38
|
901600 |
c.714A>G |
p.E238E |
Chr.1:
196958981-196958981
on Build GRCh38
|
5414379 |
c.724A>G |
p.K242E |
Chr.1:
196958991-196958991
on Build GRCh38
|
239301 |
c.773A>G |
p.Q258R |
Chr.1:
196959040-196959040
on Build GRCh38
|
4900895 |
c.712G>A |
p.E238K |
Chr.1:
196958979-196958979
on Build GRCh38
|
6123875 |
c.728C>A |
p.S243Y |
Chr.1:
196958995-196958995
on Build GRCh38
|
366987 |
c.763G>T |
p.A255S |
Chr.1:
196959030-196959030
on Build GRCh38
|
110272 |
c.731G>A |
p.G244E |
Chr.1:
196958998-196958998
on Build GRCh38
|
3480920 |
c.805G>A |
p.E269K |
Chr.1:
196959072-196959072
on Build GRCh38
|
3789285 |
c.638T>C |
p.I213T |
Chr.1:
196958905-196958905
on Build GRCh38
|
531744 |
c.731G>C |
p.G244A |
Chr.1:
196958998-196958998
on Build GRCh38
|
2125043 |
c.643G>A |
p.E215K |
Chr.1:
196958910-196958910
on Build GRCh38
|
5002097 |
c.791A>G |
p.Y264C |
Chr.1:
196959058-196959058
on Build GRCh38
|