3418169 |
c.1183G>T |
p.D395Y |
Chr.1:
157766951-157766951
on Build GRCh38
|
6308915 |
c.1252T>A |
p.L418M |
Chr.1:
157766882-157766882
on Build GRCh38
|
6662873 |
c.493T>C |
p.L165L |
Chr.1:
157766882-157766882
on Build GRCh38
|
3475820 |
c.515T>A |
p.I172K |
Chr.1:
157766860-157766860
on Build GRCh38
|
3475821 |
c.1211G>A |
p.G404E |
Chr.1:
157766923-157766923
on Build GRCh38
|
3475822 |
c.452G>A |
p.G151E |
Chr.1:
157766923-157766923
on Build GRCh38
|
3475819 |
c.1274T>A |
p.I425K |
Chr.1:
157766860-157766860
on Build GRCh38
|
3418170 |
c.424G>T |
p.D142Y |
Chr.1:
157766951-157766951
on Build GRCh38
|
5341610 |
c.408T>A |
p.P136P |
Chr.1:
157766967-157766967
on Build GRCh38
|
6662867 |
c.1163G>T |
p.G388V |
Chr.1:
157766971-157766971
on Build GRCh38
|
6541014 |
c.485C>A |
p.A162D |
Chr.1:
157766890-157766890
on Build GRCh38
|
1335089 |
c.419G>A |
p.R140K |
Chr.1:
157766956-157766956
on Build GRCh38
|
6662868 |
c.404G>T |
p.G135V |
Chr.1:
157766971-157766971
on Build GRCh38
|
4445983 |
c.542C>T |
p.S181F |
Chr.1:
157766833-157766833
on Build GRCh38
|
6662872 |
c.1252T>C |
p.L418L |
Chr.1:
157766882-157766882
on Build GRCh38
|
1284947 |
c.1269C>A |
p.H423Q |
Chr.1:
157766865-157766865
on Build GRCh38
|
1190990 |
c.466_467insT |
p.G157fs*>37 |
Chr.1:
157766908-157766909
on Build GRCh38
|
3976263 |
c.565C>A |
p.P189T |
Chr.1:
157766810-157766810
on Build GRCh38
|
1252323 |
c.497A>G |
p.Y166C |
Chr.1:
157766878-157766878
on Build GRCh38
|
5949074 |
c.416A>G |
p.Y139C |
Chr.1:
157766959-157766959
on Build GRCh38
|
5949073 |
c.1175A>G |
p.Y392C |
Chr.1:
157766959-157766959
on Build GRCh38
|
1284948 |
c.510C>A |
p.H170Q |
Chr.1:
157766865-157766865
on Build GRCh38
|
5341609 |
c.1167T>A |
p.P389P |
Chr.1:
157766967-157766967
on Build GRCh38
|
6308916 |
c.493T>A |
p.L165M |
Chr.1:
157766882-157766882
on Build GRCh38
|
1319869 |
c.430A>T |
p.M144L |
Chr.1:
157766945-157766945
on Build GRCh38
|
1335088 |
c.1178G>A |
p.R393K |
Chr.1:
157766956-157766956
on Build GRCh38
|
4170558 |
c.416A>C |
p.Y139S |
Chr.1:
157766959-157766959
on Build GRCh38
|
1252326 |
c.404-2A>G |
p.? |
Chr.1:
157766973-157766973
on Build GRCh38
|
1319868 |
c.1189A>T |
p.M397L |
Chr.1:
157766945-157766945
on Build GRCh38
|
6541013 |
c.1244C>A |
p.A415D |
Chr.1:
157766890-157766890
on Build GRCh38
|
1252322 |
c.1256A>G |
p.Y419C |
Chr.1:
157766878-157766878
on Build GRCh38
|
1190989 |
c.1225_1226insT |
p.G410fs*24 |
Chr.1:
157766908-157766909
on Build GRCh38
|
3705113 |
c.404-5C>T |
p.? |
Chr.1:
157766976-157766976
on Build GRCh38
|
3705112 |
c.1163-5C>T |
p.? |
Chr.1:
157766976-157766976
on Build GRCh38
|
4170557 |
c.1175A>C |
p.Y392S |
Chr.1:
157766959-157766959
on Build GRCh38
|
1252325 |
c.1163-2A>G |
p.? |
Chr.1:
157766973-157766973
on Build GRCh38
|
5789237 |
c.561C>A |
p.T187T |
Chr.1:
157766814-157766814
on Build GRCh38
|