898439 |
c.1547C>T |
p.S516L |
Chr.1:
161049563-161049563
on Build GRCh38
|
5666276 |
c.1448C>T |
p.S483L |
Chr.1:
161049662-161049662
on Build GRCh38
|
4882731 |
c.1471C>A |
p.P491T |
Chr.1:
161049639-161049639
on Build GRCh38
|
5543725 |
c.1536C>T |
p.F512F |
Chr.1:
161049574-161049574
on Build GRCh38
|
898443 |
c.1503G>A |
p.S501S |
Chr.1:
161049607-161049607
on Build GRCh38
|
3477120 |
c.1462G>A |
p.D488N |
Chr.1:
161049648-161049648
on Build GRCh38
|
898441 |
c.1529_1531delTCT |
p.F510delF |
Chr.1:
161049579-161049581
on Build GRCh38
|
4969266 |
c.1489G>T |
p.A497S |
Chr.1:
161049621-161049621
on Build GRCh38
|
6603389 |
c.1495G>T |
p.E499* |
Chr.1:
161049615-161049615
on Build GRCh38
|
4882730 |
c.1471C>A |
p.P491T |
Chr.1:
161049639-161049639
on Build GRCh38
|
898438 |
c.1547C>T |
p.S516L |
Chr.1:
161049563-161049563
on Build GRCh38
|
4528135 |
c.1513G>A |
p.E505K |
Chr.1:
161049597-161049597
on Build GRCh38
|
1160864 |
c.1547C>G |
p.S516* |
Chr.1:
161049563-161049563
on Build GRCh38
|
3477121 |
c.1462G>A |
p.D488N |
Chr.1:
161049648-161049648
on Build GRCh38
|
898440 |
c.1529_1531delTCT |
p.F510delF |
Chr.1:
161049579-161049581
on Build GRCh38
|
3769901 |
c.1522G>C |
p.D508H |
Chr.1:
161049588-161049588
on Build GRCh38
|
898442 |
c.1503G>A |
p.S501S |
Chr.1:
161049607-161049607
on Build GRCh38
|
2086497 |
c.1436C>G |
p.A479G |
Chr.1:
161049674-161049674
on Build GRCh38
|
1626579 |
c.1429T>C |
p.L477L |
Chr.1:
161049681-161049681
on Build GRCh38
|
6603417 |
c.1490C>T |
p.A497V |
Chr.1:
161049620-161049620
on Build GRCh38
|
4969265 |
c.1489G>T |
p.A497S |
Chr.1:
161049621-161049621
on Build GRCh38
|
5666275 |
c.1448C>T |
p.S483L |
Chr.1:
161049662-161049662
on Build GRCh38
|
6603405 |
c.1522G>T |
p.D508Y |
Chr.1:
161049588-161049588
on Build GRCh38
|
3769900 |
c.1522G>C |
p.D508H |
Chr.1:
161049588-161049588
on Build GRCh38
|
5024012 |
c.1421-5A>G |
p.? |
Chr.1:
161049694-161049694
on Build GRCh38
|
6603416 |
c.1490C>T |
p.A497V |
Chr.1:
161049620-161049620
on Build GRCh38
|
1160863 |
c.1547C>G |
p.S516* |
Chr.1:
161049563-161049563
on Build GRCh38
|
230887 |
c.1423G>A |
p.E475K |
Chr.1:
161049687-161049687
on Build GRCh38
|
5543726 |
c.1536C>T |
p.F512F |
Chr.1:
161049574-161049574
on Build GRCh38
|
5778286 |
c.1504C>G |
p.L502V |
Chr.1:
161049606-161049606
on Build GRCh38
|
6603406 |
c.1522G>T |
p.D508Y |
Chr.1:
161049588-161049588
on Build GRCh38
|
5024013 |
c.1421-5A>G |
p.? |
Chr.1:
161049694-161049694
on Build GRCh38
|
4528136 |
c.1513G>A |
p.E505K |
Chr.1:
161049597-161049597
on Build GRCh38
|
5778287 |
c.1504C>G |
p.L502V |
Chr.1:
161049606-161049606
on Build GRCh38
|
2086498 |
c.1436C>G |
p.A479G |
Chr.1:
161049674-161049674
on Build GRCh38
|
1626578 |
c.1429T>C |
p.L477L |
Chr.1:
161049681-161049681
on Build GRCh38
|
6603390 |
c.1495G>T |
p.E499* |
Chr.1:
161049615-161049615
on Build GRCh38
|
230886 |
c.1423G>A |
p.E475K |
Chr.1:
161049687-161049687
on Build GRCh38
|