4688134 |
c.864C>A |
p.G288G |
Chr.1:
200873901-200873901
on Build GRCh38
|
2211617 |
c.837C>A |
p.C279* |
Chr.1:
200873874-200873874
on Build GRCh38
|
6674064 |
c.730C>T |
p.R244C |
Chr.1:
200873767-200873767
on Build GRCh38
|
4688133 |
c.742G>A |
p.A248T |
Chr.1:
200873779-200873779
on Build GRCh38
|
6674063 |
c.887C>T |
p.A296V |
Chr.1:
200873924-200873924
on Build GRCh38
|
1748063 |
c.825G>C |
p.L275L |
Chr.1:
200873862-200873862
on Build GRCh38
|
1748062 |
c.767C>G |
p.S256C |
Chr.1:
200873804-200873804
on Build GRCh38
|
6674062 |
c.882C>T |
p.C294C |
Chr.1:
200873919-200873919
on Build GRCh38
|
6123726 |
c.885G>T |
p.L295L |
Chr.1:
200873922-200873922
on Build GRCh38
|
1601500 |
c.874G>C |
p.A292P |
Chr.1:
200873911-200873911
on Build GRCh38
|
6674061 |
c.932A>C |
p.D311A |
Chr.1:
200873969-200873969
on Build GRCh38
|
5811225 |
c.924C>G |
p.L308L |
Chr.1:
200873961-200873961
on Build GRCh38
|
4513055 |
c.925C>T |
p.L309L |
Chr.1:
200873962-200873962
on Build GRCh38
|
370684 |
c.724T>A |
p.S242T |
Chr.1:
200873761-200873761
on Build GRCh38
|
5018286 |
c.760delG |
p.V254fs*>108 |
Chr.1:
200873797-200873797
on Build GRCh38
|
6289301 |
c.860G>T |
p.W287L |
Chr.1:
200873897-200873897
on Build GRCh38
|
3481308 |
c.938C>T |
p.S313L |
Chr.1:
200873975-200873975
on Build GRCh38
|
7145976 |
c.944G>T |
p.R315L |
Chr.1:
200873981-200873981
on Build GRCh38
|
6244560 |
c.828G>T |
p.P276P |
Chr.1:
200873865-200873865
on Build GRCh38
|
678227 |
c.823C>A |
p.L275M |
Chr.1:
200873860-200873860
on Build GRCh38
|
3385597 |
c.930G>A |
p.L310L |
Chr.1:
200873967-200873967
on Build GRCh38
|
297882 |
c.750G>A |
p.E250E |
Chr.1:
200873787-200873787
on Build GRCh38
|
6458433 |
c.837delC |
p.L281fs*>81 |
Chr.1:
200873874-200873874
on Build GRCh38
|
3803414 |
c.904G>T |
p.A302S |
Chr.1:
200873941-200873941
on Build GRCh38
|
5469834 |
c.944G>A |
p.R315Q |
Chr.1:
200873981-200873981
on Build GRCh38
|
3803413 |
c.726G>A |
p.S242S |
Chr.1:
200873763-200873763
on Build GRCh38
|
1337735 |
c.905C>T |
p.A302V |
Chr.1:
200873942-200873942
on Build GRCh38
|
6674056 |
c.731G>A |
p.R244H |
Chr.1:
200873768-200873768
on Build GRCh38
|
4438249 |
c.748G>A |
p.E250K |
Chr.1:
200873785-200873785
on Build GRCh38
|
1320591 |
c.900C>G |
p.S300R |
Chr.1:
200873937-200873937
on Build GRCh38
|
6674055 |
c.728T>C |
p.L243P |
Chr.1:
200873765-200873765
on Build GRCh38
|
4435068 |
c.726G>T |
p.S242S |
Chr.1:
200873763-200873763
on Build GRCh38
|
6674054 |
c.903C>T |
p.C301C |
Chr.1:
200873940-200873940
on Build GRCh38
|
5705143 |
c.827C>A |
p.P276Q |
Chr.1:
200873864-200873864
on Build GRCh38
|
4026827 |
c.935G>A |
p.R312H |
Chr.1:
200873972-200873972
on Build GRCh38
|
6534159 |
c.730C>G |
p.R244G |
Chr.1:
200873767-200873767
on Build GRCh38
|
4026826 |
c.796G>A |
p.V266I |
Chr.1:
200873833-200873833
on Build GRCh38
|