4473353 |
c.1844C>T |
p.P615L |
Chr.1:
145849489-145849489
on Build GRCh38
|
5923542 |
c.1739C>T |
p.S580F |
Chr.1:
145849594-145849594
on Build GRCh38
|
1180694 |
c.1798delG |
p.A602fs*2 |
Chr.1:
145849535-145849535
on Build GRCh38
|
4473337 |
c.1843C>T |
p.P615S |
Chr.1:
145849490-145849490
on Build GRCh38
|
1220520 |
c.1759G>A |
p.A587T |
Chr.1:
145849574-145849574
on Build GRCh38
|
4569296 |
c.1649T>G |
p.L550R |
Chr.1:
145849684-145849684
on Build GRCh38
|
6040606 |
c.1673A>G |
p.H558R |
Chr.1:
145849660-145849660
on Build GRCh38
|
4530362 |
c.1692G>A |
p.G564G |
Chr.1:
145849641-145849641
on Build GRCh38
|
895227 |
c.1774C>A |
p.R592S |
Chr.1:
145849559-145849559
on Build GRCh38
|
5588642 |
c.1751C>T |
p.A584V |
Chr.1:
145849582-145849582
on Build GRCh38
|
895225 |
c.1693A>T |
p.T565S |
Chr.1:
145849640-145849640
on Build GRCh38
|
96119 |
c.1710G>C |
p.L570L |
Chr.1:
145849623-145849623
on Build GRCh38
|
6745886 |
c.1758G>A |
p.P586P |
Chr.1:
145849575-145849575
on Build GRCh38
|
4939061 |
c.1797T>G |
p.P599P |
Chr.1:
145849536-145849536
on Build GRCh38
|
3801661 |
c.1703A>C |
p.H568P |
Chr.1:
145849630-145849630
on Build GRCh38
|
3965782 |
c.1702C>G |
p.H568D |
Chr.1:
145849631-145849631
on Build GRCh38
|
5101821 |
c.1797_1798insG |
p.A602fs*>28 |
Chr.1:
145849535-145849536
on Build GRCh38
|
6431000 |
c.1831C>A |
p.L611M |
Chr.1:
145849502-145849502
on Build GRCh38
|
2121125 |
c.1728G>A |
p.T576T |
Chr.1:
145849605-145849605
on Build GRCh38
|
3473156 |
c.1872C>T |
p.I624I |
Chr.1:
145849461-145849461
on Build GRCh38
|
1333613 |
c.1775G>A |
p.R592H |
Chr.1:
145849558-145849558
on Build GRCh38
|
3711129 |
c.1657C>A |
p.Q553K |
Chr.1:
145849676-145849676
on Build GRCh38
|
4714267 |
c.1716A>G |
p.P572P |
Chr.1:
145849617-145849617
on Build GRCh38
|
4714265 |
c.1658A>C |
p.Q553P |
Chr.1:
145849675-145849675
on Build GRCh38
|
6199025 |
c.1766C>A |
p.P589H |
Chr.1:
145849567-145849567
on Build GRCh38
|
1333615 |
c.1862G>A |
p.R621Q |
Chr.1:
145849471-145849471
on Build GRCh38
|