5343965 |
c.454-1G>T |
p.? |
Chr.2:
201833847-201833847
on Build GRCh38
|
6625401 |
c.555A>G |
p.G185G |
Chr.2:
201833949-201833949
on Build GRCh38
|
1565151 |
c.465T>A |
p.F155L |
Chr.2:
201833859-201833859
on Build GRCh38
|
4505816 |
c.702C>T |
p.H234H |
Chr.2:
201833943-201833943
on Build GRCh38
|
5105845 |
c.577+10C>T |
p.? |
Chr.2:
201833981-201833981
on Build GRCh38
|
6543812 |
c.459C>T |
p.F153F |
Chr.2:
201833853-201833853
on Build GRCh38
|
2907745 |
c.698G>A |
p.S233N |
Chr.2:
201833939-201833939
on Build GRCh38
|
5479348 |
c.565C>T |
p.L189L |
Chr.2:
201833959-201833959
on Build GRCh38
|
2907747 |
c.705G>A |
p.L235L |
Chr.2:
201833946-201833946
on Build GRCh38
|
7085405 |
c.675G>C |
p.L225L |
Chr.2:
201833916-201833916
on Build GRCh38
|
1737430 |
c.553G>A |
p.G185R |
Chr.2:
201833947-201833947
on Build GRCh38
|
5617113 |
c.577+4A>G |
p.? |
Chr.2:
201833975-201833975
on Build GRCh38
|
6625413 |
c.498C>A |
p.H166Q |
Chr.2:
201833892-201833892
on Build GRCh38
|
4801034 |
c.691C>T |
p.L231F |
Chr.2:
201833932-201833932
on Build GRCh38
|
1306307 |
c.522G>C |
p.L174L |
Chr.2:
201833916-201833916
on Build GRCh38
|
6625414 |
c.651C>A |
p.H217Q |
Chr.2:
201833892-201833892
on Build GRCh38
|
4801033 |
c.538C>T |
p.L180F |
Chr.2:
201833932-201833932
on Build GRCh38
|
1404544 |
c.476delG |
p.G160fs*15 |
Chr.2:
201833870-201833870
on Build GRCh38
|
6510469 |
c.476G>A |
p.R159Q |
Chr.2:
201833870-201833870
on Build GRCh38
|
5994115 |
c.620A>G |
p.Q207R |
Chr.2:
201833861-201833861
on Build GRCh38
|
6625420 |
c.639G>A |
p.A213A |
Chr.2:
201833880-201833880
on Build GRCh38
|
1737431 |
c.706G>A |
p.G236R |
Chr.2:
201833947-201833947
on Build GRCh38
|
5011011 |
c.535T>G |
p.L179V |
Chr.2:
201833929-201833929
on Build GRCh38
|
4505815 |
c.549C>T |
p.H183H |
Chr.2:
201833943-201833943
on Build GRCh38
|
6510470 |
c.629G>A |
p.R210Q |
Chr.2:
201833870-201833870
on Build GRCh38
|
1014980 |
c.508C>A |
p.L170I |
Chr.2:
201833902-201833902
on Build GRCh38
|
5343966 |
c.607-1G>T |
p.? |
Chr.2:
201833847-201833847
on Build GRCh38
|
1014981 |
c.513C>T |
p.H171H |
Chr.2:
201833907-201833907
on Build GRCh38
|
1014982 |
c.531G>T |
p.Q177H |
Chr.2:
201833925-201833925
on Build GRCh38
|
6543813 |
c.612C>T |
p.F204F |
Chr.2:
201833853-201833853
on Build GRCh38
|
5479349 |
c.718C>T |
p.L240L |
Chr.2:
201833959-201833959
on Build GRCh38
|
342425 |
c.473T>G |
p.L158W |
Chr.2:
201833867-201833867
on Build GRCh38
|
5617114 |
c.730+4A>G |
p.? |
Chr.2:
201833975-201833975
on Build GRCh38
|
6625402 |
c.708A>G |
p.G236G |
Chr.2:
201833949-201833949
on Build GRCh38
|
2907744 |
c.545G>A |
p.S182N |
Chr.2:
201833939-201833939
on Build GRCh38
|
5994114 |
c.467A>G |
p.Q156R |
Chr.2:
201833861-201833861
on Build GRCh38
|
5011012 |
c.688T>G |
p.L230V |
Chr.2:
201833929-201833929
on Build GRCh38
|
2907746 |
c.552G>A |
p.L184L |
Chr.2:
201833946-201833946
on Build GRCh38
|
6625419 |
c.486G>A |
p.A162A |
Chr.2:
201833880-201833880
on Build GRCh38
|
5076350 |
c.618T>A |
p.F206L |
Chr.2:
201833859-201833859
on Build GRCh38
|
5176206 |
c.629delG |
p.G211fs*15 |
Chr.2:
201833870-201833870
on Build GRCh38
|