5033686 |
c.672T>C |
p.H224H |
Chr.1:
206116219-206116219
on Build GRCh38
|
3943365 |
c.784C>G |
p.L262V |
Chr.1:
206116107-206116107
on Build GRCh38
|
6608972 |
c.713G>A |
p.R238Q |
Chr.1:
206116178-206116178
on Build GRCh38
|
2215761 |
c.873C>T |
p.I291I |
Chr.1:
206116018-206116018
on Build GRCh38
|
3864274 |
c.889T>A |
p.F297I |
Chr.1:
206116002-206116002
on Build GRCh38
|
2215760 |
c.838G>T |
p.V280L |
Chr.1:
206116053-206116053
on Build GRCh38
|
2215759 |
c.836C>A |
p.T279K |
Chr.1:
206116055-206116055
on Build GRCh38
|
3864273 |
c.742G>A |
p.D248N |
Chr.1:
206116149-206116149
on Build GRCh38
|
6608970 |
c.784C>T |
p.L262L |
Chr.1:
206116107-206116107
on Build GRCh38
|
2215753 |
c.712C>T |
p.R238W |
Chr.1:
206116179-206116179
on Build GRCh38
|
902900 |
c.859G>A |
p.V287M |
Chr.1:
206116032-206116032
on Build GRCh38
|
6580037 |
c.783G>A |
p.G261G |
Chr.1:
206116108-206116108
on Build GRCh38
|
902899 |
c.793C>T |
p.R265W |
Chr.1:
206116098-206116098
on Build GRCh38
|
6045343 |
c.673G>T |
p.E225* |
Chr.1:
206116218-206116218
on Build GRCh38
|
4664797 |
c.714G>A |
p.R238R |
Chr.1:
206116177-206116177
on Build GRCh38
|
6009758 |
c.696C>T |
p.V232V |
Chr.1:
206116195-206116195
on Build GRCh38
|
5916993 |
c.764T>G |
p.L255* |
Chr.1:
206116127-206116127
on Build GRCh38
|
1660712 |
c.862C>A |
p.L288M |
Chr.1:
206116029-206116029
on Build GRCh38
|
4557201 |
c.718G>A |
p.G240R |
Chr.1:
206116173-206116173
on Build GRCh38
|
5754327 |
c.781G>A |
p.G261R |
Chr.1:
206116110-206116110
on Build GRCh38
|
1338258 |
c.865G>A |
p.A289T |
Chr.1:
206116026-206116026
on Build GRCh38
|
5705165 |
c.779G>A |
p.R260Q |
Chr.1:
206116112-206116112
on Build GRCh38
|
4510312 |
c.832C>T |
p.R278* |
Chr.1:
206116059-206116059
on Build GRCh38
|
1338257 |
c.835A>T |
p.T279S |
Chr.1:
206116056-206116056
on Build GRCh38
|
5689867 |
c.886delC |
p.F297fs*84 |
Chr.1:
206116005-206116005
on Build GRCh38
|
1237079 |
c.858C>T |
p.I286I |
Chr.1:
206116033-206116033
on Build GRCh38
|
69040 |
c.895delA |
p.S299fs*82 |
Chr.1:
206115996-206115996
on Build GRCh38
|
224183 |
c.725G>A |
p.G242E |
Chr.1:
206116166-206116166
on Build GRCh38
|
5368752 |
c.821G>A |
p.R274Q |
Chr.1:
206116070-206116070
on Build GRCh38
|