4170579 |
c.981T>A |
p.I327I |
Chr.1:
206012353-206012353
on Build GRCh38
|
3482393 |
c.919G>A |
p.D307N |
Chr.1:
206012516-206012516
on Build GRCh38
|
5379396 |
c.833C>T |
p.A278V |
Chr.1:
206012602-206012602
on Build GRCh38
|
2215842 |
c.936G>T |
p.V312V |
Chr.1:
206012398-206012398
on Build GRCh38
|
902913 |
c.826T>C |
p.C276R |
Chr.1:
206012609-206012609
on Build GRCh38
|
1338265 |
c.1019delC |
p.L341fs*>56 |
Chr.1:
206012315-206012315
on Build GRCh38
|
7223463 |
c.914C>A |
p.P305H |
Chr.1:
206012521-206012521
on Build GRCh38
|
3750824 |
c.870T>C |
p.P290P |
Chr.1:
206012565-206012565
on Build GRCh38
|
1338263 |
c.819C>T |
p.S273S |
Chr.1:
206012616-206012616
on Build GRCh38
|
6637786 |
c.792G>T |
p.Q264H |
Chr.1:
206012643-206012643
on Build GRCh38
|
7329984 |
c.915C>T |
p.P305P |
Chr.1:
206012520-206012520
on Build GRCh38
|
7316341 |
c.1015T>C |
p.Y339H |
Chr.1:
206012319-206012319
on Build GRCh38
|
3803642 |
c.813C>A |
p.F271L |
Chr.1:
206012622-206012622
on Build GRCh38
|
6637793 |
c.796G>A |
p.G266R |
Chr.1:
206012639-206012639
on Build GRCh38
|
82093 |
c.846A>T |
p.T282T |
Chr.1:
206012589-206012589
on Build GRCh38
|
7425603 |
c.928-2A>C |
p.? |
Chr.1:
206012408-206012408
on Build GRCh38
|
1748115 |
c.829C>T |
p.Q277* |
Chr.1:
206012606-206012606
on Build GRCh38
|
5038257 |
c.1018A>C |
p.T340P |
Chr.1:
206012316-206012316
on Build GRCh38
|
3482392 |
c.914C>T |
p.P305L |
Chr.1:
206012521-206012521
on Build GRCh38
|
4027497 |
c.896A>G |
p.N299S |
Chr.1:
206012539-206012539
on Build GRCh38
|
3482391 |
c.848G>A |
p.G283E |
Chr.1:
206012587-206012587
on Build GRCh38
|