5550533 |
c.2339C>T |
p.A780V |
Chr.1:
226642033-226642033
on Build GRCh38
|
679348 |
c.2322C>G |
p.I774M |
Chr.1:
226642050-226642050
on Build GRCh38
|
3729173 |
c.2293C>A |
p.L765M |
Chr.1:
226642079-226642079
on Build GRCh38
|
679349 |
c.900C>G |
p.I300M |
Chr.1:
226642050-226642050
on Build GRCh38
|
4941353 |
c.843G>A |
p.E281E |
Chr.1:
226642107-226642107
on Build GRCh38
|
3729174 |
c.871C>A |
p.L291M |
Chr.1:
226642079-226642079
on Build GRCh38
|
1285621 |
c.2347G>A |
p.E783K |
Chr.1:
226642025-226642025
on Build GRCh38
|
1731178 |
c.886T>C |
p.Y296H |
Chr.1:
226642064-226642064
on Build GRCh38
|
6865790 |
c.867C>T |
p.P289P |
Chr.1:
226642083-226642083
on Build GRCh38
|
1731177 |
c.2308T>C |
p.Y770H |
Chr.1:
226642064-226642064
on Build GRCh38
|
4941352 |
c.2265G>A |
p.E755E |
Chr.1:
226642107-226642107
on Build GRCh38
|
4946840 |
c.2338G>A |
p.A780T |
Chr.1:
226642034-226642034
on Build GRCh38
|
6865789 |
c.2289C>T |
p.P763P |
Chr.1:
226642083-226642083
on Build GRCh38
|
6236824 |
c.913G>T |
p.E305* |
Chr.1:
226642037-226642037
on Build GRCh38
|
1961828 |
c.921C>T |
p.P307P |
Chr.1:
226642029-226642029
on Build GRCh38
|
4479537 |
c.2334C>T |
p.P778P |
Chr.1:
226642038-226642038
on Build GRCh38
|
6236823 |
c.2335G>T |
p.E779* |
Chr.1:
226642037-226642037
on Build GRCh38
|
4479603 |
c.2341C>T |
p.P781S |
Chr.1:
226642031-226642031
on Build GRCh38
|
1961827 |
c.2343C>T |
p.P781P |
Chr.1:
226642029-226642029
on Build GRCh38
|
1339308 |
c.2335G>A |
p.E779K |
Chr.1:
226642037-226642037
on Build GRCh38
|
1961831 |
c.2247-1G>T |
p.? |
Chr.1:
226642126-226642126
on Build GRCh38
|
1961832 |
c.825-1G>T |
p.? |
Chr.1:
226642126-226642126
on Build GRCh38
|
3484289 |
c.2277C>T |
p.A759A |
Chr.1:
226642095-226642095
on Build GRCh38
|
75051 |
c.916G>A |
p.A306T |
Chr.1:
226642034-226642034
on Build GRCh38
|
4479538 |
c.912C>T |
p.P304P |
Chr.1:
226642038-226642038
on Build GRCh38
|
5550534 |
c.917C>T |
p.A306V |
Chr.1:
226642033-226642033
on Build GRCh38
|
4693542 |
c.2296C>T |
p.R766W |
Chr.1:
226642076-226642076
on Build GRCh38
|
4479604 |
c.919C>T |
p.P307S |
Chr.1:
226642031-226642031
on Build GRCh38
|
6688652 |
c.2297G>A |
p.R766Q |
Chr.1:
226642075-226642075
on Build GRCh38
|
6541831 |
c.937G>A |
p.A313T |
Chr.1:
226642013-226642013
on Build GRCh38
|
1285622 |
c.925G>A |
p.E309K |
Chr.1:
226642025-226642025
on Build GRCh38
|
6534258 |
c.875G>C |
p.R292P |
Chr.1:
226642075-226642075
on Build GRCh38
|
6688653 |
c.875G>A |
p.R292Q |
Chr.1:
226642075-226642075
on Build GRCh38
|
4693543 |
c.874C>T |
p.R292W |
Chr.1:
226642076-226642076
on Build GRCh38
|
6541830 |
c.2359G>A |
p.A787T |
Chr.1:
226642013-226642013
on Build GRCh38
|
1339309 |
c.913G>A |
p.E305K |
Chr.1:
226642037-226642037
on Build GRCh38
|
6534257 |
c.2297G>C |
p.R766P |
Chr.1:
226642075-226642075
on Build GRCh38
|
3484290 |
c.855C>T |
p.A285A |
Chr.1:
226642095-226642095
on Build GRCh38
|