4997885 |
c.643G>A |
p.V215I |
Chr.1:
154544102-154544102
on Build GRCh38
|
6343181 |
c.519G>T |
p.V173V |
Chr.1:
154543978-154543978
on Build GRCh38
|
1334446 |
c.573C>T |
p.S191S |
Chr.1:
154544032-154544032
on Build GRCh38
|
3474700 |
c.621C>T |
p.T207T |
Chr.1:
154544080-154544080
on Build GRCh38
|
3802030 |
c.649G>A |
p.E217K |
Chr.1:
154544108-154544108
on Build GRCh38
|
5346298 |
c.609C>A |
p.I203I |
Chr.1:
154544068-154544068
on Build GRCh38
|
6540917 |
c.565A>T |
p.I189F |
Chr.1:
154544024-154544024
on Build GRCh38
|
3979855 |
c.504-2A>C |
p.? |
Chr.1:
154543961-154543961
on Build GRCh38
|
6799019 |
c.579_580insG |
p.E195fs*23 |
Chr.1:
154544038-154544039
on Build GRCh38
|
6540918 |
c.565A>T |
p.I189F |
Chr.1:
154544024-154544024
on Build GRCh38
|
6799023 |
c.555G>A |
p.W185* |
Chr.1:
154544014-154544014
on Build GRCh38
|
6994974 |
c.564C>A |
p.L188L |
Chr.1:
154544023-154544023
on Build GRCh38
|
5822689 |
c.555G>T |
p.W185C |
Chr.1:
154544014-154544014
on Build GRCh38
|
4022817 |
c.601A>G |
p.T201A |
Chr.1:
154544060-154544060
on Build GRCh38
|
6799022 |
c.559G>A |
p.A187T |
Chr.1:
154544018-154544018
on Build GRCh38
|
2209142 |
c.582G>A |
p.G194G |
Chr.1:
154544041-154544041
on Build GRCh38
|
72939 |
c.570T>G |
p.H190Q |
Chr.1:
154544029-154544029
on Build GRCh38
|
241863 |
c.629delT |
p.F210fs*89 |
Chr.1:
154544088-154544088
on Build GRCh38
|
6121529 |
c.506G>T |
p.G169V |
Chr.1:
154543965-154543965
on Build GRCh38
|
6994975 |
c.564C>A |
p.L188L |
Chr.1:
154544023-154544023
on Build GRCh38
|
4553205 |
c.583G>A |
p.E195K |
Chr.1:
154544042-154544042
on Build GRCh38
|
896619 |
c.591G>A |
p.G197G |
Chr.1:
154544050-154544050
on Build GRCh38
|
3474699 |
c.613C>T |
p.P205S |
Chr.1:
154544072-154544072
on Build GRCh38
|
1228826 |
c.623C>T |
p.P208L |
Chr.1:
154544082-154544082
on Build GRCh38
|
7155408 |
c.562C>T |
p.L188F |
Chr.1:
154544021-154544021
on Build GRCh38
|
4960320 |
c.590G>A |
p.G197E |
Chr.1:
154544049-154544049
on Build GRCh38
|
4817709 |
c.612C>T |
p.V204V |
Chr.1:
154544071-154544071
on Build GRCh38
|
529195 |
c.578G>T |
p.R193L |
Chr.1:
154544037-154544037
on Build GRCh38
|
146636 |
c.542G>A |
p.R181Q |
Chr.1:
154544001-154544001
on Build GRCh38
|
6356261 |
c.541C>T |
p.R181* |
Chr.1:
154544000-154544000
on Build GRCh38
|
3802029 |
c.564C>G |
p.L188L |
Chr.1:
154544023-154544023
on Build GRCh38
|
6799021 |
c.559G>A |
p.A187T |
Chr.1:
154544018-154544018
on Build GRCh38
|
6507814 |
c.542G>A |
p.R181Q |
Chr.1:
154544001-154544001
on Build GRCh38
|
5352946 |
c.577C>T |
p.R193C |
Chr.1:
154544036-154544036
on Build GRCh38
|
4022816 |
c.519G>A |
p.V173V |
Chr.1:
154543978-154543978
on Build GRCh38
|
6872668 |
c.603G>A |
p.T201T |
Chr.1:
154544062-154544062
on Build GRCh38
|
2154660 |
c.574G>A |
p.V192I |
Chr.1:
154544033-154544033
on Build GRCh38
|
6799024 |
c.555G>A |
p.W185* |
Chr.1:
154544014-154544014
on Build GRCh38
|
423995 |
c.541C>T |
p.R181* |
Chr.1:
154544000-154544000
on Build GRCh38
|
7155407 |
c.562C>T |
p.L188F |
Chr.1:
154544021-154544021
on Build GRCh38
|
6799020 |
c.579_580insG |
p.E195fs*23 |
Chr.1:
154544038-154544039
on Build GRCh38
|
5886108 |
c.504-5C>T |
p.? |
Chr.1:
154543958-154543958
on Build GRCh38
|
4551583 |
c.532G>A |
p.E178K |
Chr.1:
154543991-154543991
on Build GRCh38
|
5822922 |
c.554G>T |
p.W185L |
Chr.1:
154544013-154544013
on Build GRCh38
|
4403425 |
c.576C>T |
p.V192V |
Chr.1:
154544035-154544035
on Build GRCh38
|
122021 |
c.564C>T |
p.L188L |
Chr.1:
154544023-154544023
on Build GRCh38
|
6872669 |
c.603G>A |
p.T201T |
Chr.1:
154544062-154544062
on Build GRCh38
|
3474698 |
c.586G>C |
p.A196P |
Chr.1:
154544045-154544045
on Build GRCh38
|
6343180 |
c.519G>T |
p.V173V |
Chr.1:
154543978-154543978
on Build GRCh38
|
4789763 |
c.517G>A |
p.V173M |
Chr.1:
154543976-154543976
on Build GRCh38
|
1317671 |
c.578G>A |
p.R193H |
Chr.1:
154544037-154544037
on Build GRCh38
|
896620 |
c.651G>A |
p.E217E |
Chr.1:
154544110-154544110
on Build GRCh38
|