6452937 |
c.1348T>C |
p.S450P |
Chr.1:
40236050-40236050
on Build GRCh38
|
2169010 |
c.1541A>G |
p.Y514C |
Chr.1:
40236243-40236243
on Build GRCh38
|
7224051 |
c.1543G>C |
p.D515H |
Chr.1:
40236245-40236245
on Build GRCh38
|
6320368 |
c.1516G>T |
p.V506F |
Chr.1:
40236218-40236218
on Build GRCh38
|
7195734 |
c.1402G>T |
p.E468* |
Chr.1:
40236104-40236104
on Build GRCh38
|
909397 |
c.1354C>T |
p.R452* |
Chr.1:
40236056-40236056
on Build GRCh38
|
3805192 |
c.1456G>T |
p.E486* |
Chr.1:
40236158-40236158
on Build GRCh38
|
909398 |
c.1405T>G |
p.F469V |
Chr.1:
40236107-40236107
on Build GRCh38
|
426258 |
c.1463_1464insA |
p.D489fs*3 |
Chr.1:
40236165-40236166
on Build GRCh38
|
6766957 |
c.1436G>A |
p.C479Y |
Chr.1:
40236138-40236138
on Build GRCh38
|
1342593 |
c.1349C>A |
p.S450Y |
Chr.1:
40236051-40236051
on Build GRCh38
|
464610 |
c.1336C>T |
p.P446S |
Chr.1:
40236038-40236038
on Build GRCh38
|
5671536 |
c.1501A>G |
p.I501V |
Chr.1:
40236203-40236203
on Build GRCh38
|
1602380 |
c.1510A>G |
p.T504A |
Chr.1:
40236212-40236212
on Build GRCh38
|
6507227 |
c.1402G>A |
p.E468K |
Chr.1:
40236104-40236104
on Build GRCh38
|
4577333 |
c.1337C>T |
p.P446L |
Chr.1:
40236039-40236039
on Build GRCh38
|
3489521 |
c.1343C>T |
p.P448L |
Chr.1:
40236045-40236045
on Build GRCh38
|
1687510 |
c.1399C>T |
p.P467S |
Chr.1:
40236101-40236101
on Build GRCh38
|
6063573 |
c.1338G>A |
p.P446P |
Chr.1:
40236040-40236040
on Build GRCh38
|
7270687 |
c.1429C>T |
p.R477* |
Chr.1:
40236131-40236131
on Build GRCh38
|