909536 |
c.1802C>T |
p.A601V |
Chr.1:
41028603-41028603
on Build GRCh38
|
3489637 |
c.1636C>T |
p.L546L |
Chr.1:
41028598-41028598
on Build GRCh38
|
7103580 |
c.1546C>T |
p.L516L |
Chr.1:
41028688-41028688
on Build GRCh38
|
6772720 |
c.1849C>T |
p.R617C |
Chr.1:
41028592-41028592
on Build GRCh38
|
4436589 |
c.1715G>A |
p.R572Q |
Chr.1:
41028690-41028690
on Build GRCh38
|
3489635 |
c.1843C>T |
p.L615L |
Chr.1:
41028598-41028598
on Build GRCh38
|
909539 |
c.1749C>T |
p.V583V |
Chr.1:
41028656-41028656
on Build GRCh38
|
6905903 |
c.1543C>T |
p.R515* |
Chr.1:
41028691-41028691
on Build GRCh38
|
188071 |
c.1772G>A |
p.R591Q |
Chr.1:
41028633-41028633
on Build GRCh38
|
909538 |
c.1785C>T |
p.V595V |
Chr.1:
41028656-41028656
on Build GRCh38
|
909533 |
c.1821C>T |
p.H607H |
Chr.1:
41028584-41028584
on Build GRCh38
|
5954882 |
c.1622G>A |
p.G541E |
Chr.1:
41028612-41028612
on Build GRCh38
|
909532 |
c.1857C>T |
p.H619H |
Chr.1:
41028584-41028584
on Build GRCh38
|
909535 |
c.1838C>T |
p.A613V |
Chr.1:
41028603-41028603
on Build GRCh38
|
4436588 |
c.1751G>A |
p.R584Q |
Chr.1:
41028690-41028690
on Build GRCh38
|
6318806 |
c.1796C>A |
p.P599H |
Chr.1:
41028609-41028609
on Build GRCh38
|
5429860 |
c.1786C>G |
p.Q596E |
Chr.1:
41028619-41028619
on Build GRCh38
|
2169485 |
c.1808G>A |
p.R603Q |
Chr.1:
41028633-41028633
on Build GRCh38
|
6772744 |
c.1517G>A |
p.R506Q |
Chr.1:
41028717-41028717
on Build GRCh38
|
188070 |
c.1601G>A |
p.R534Q |
Chr.1:
41028633-41028633
on Build GRCh38
|
4436590 |
c.1544G>A |
p.R515Q |
Chr.1:
41028690-41028690
on Build GRCh38
|
6318805 |
c.1832C>A |
p.P611H |
Chr.1:
41028609-41028609
on Build GRCh38
|
6772722 |
c.1642C>T |
p.R548C |
Chr.1:
41028592-41028592
on Build GRCh38
|
7103579 |
c.1717C>T |
p.L573L |
Chr.1:
41028688-41028688
on Build GRCh38
|
7103578 |
c.1753C>T |
p.L585L |
Chr.1:
41028688-41028688
on Build GRCh38
|
6905902 |
c.1714C>T |
p.R572* |
Chr.1:
41028691-41028691
on Build GRCh38
|
5429859 |
c.1822C>G |
p.Q608E |
Chr.1:
41028619-41028619
on Build GRCh38
|
6905901 |
c.1750C>T |
p.R584* |
Chr.1:
41028691-41028691
on Build GRCh38
|
909540 |
c.1578C>T |
p.V526V |
Chr.1:
41028656-41028656
on Build GRCh38
|
1224797 |
c.1687C>T |
p.R563* |
Chr.1:
41028718-41028718
on Build GRCh38
|
3671762 |
c.1679-1G>T |
p.? |
Chr.1:
41028727-41028727
on Build GRCh38
|
6772743 |
c.1688G>A |
p.R563Q |
Chr.1:
41028717-41028717
on Build GRCh38
|
909534 |
c.1650C>T |
p.H550H |
Chr.1:
41028584-41028584
on Build GRCh38
|
909537 |
c.1631C>T |
p.A544V |
Chr.1:
41028603-41028603
on Build GRCh38
|
5954881 |
c.1793G>A |
p.G598E |
Chr.1:
41028612-41028612
on Build GRCh38
|
5429861 |
c.1615C>G |
p.Q539E |
Chr.1:
41028619-41028619
on Build GRCh38
|
1224796 |
c.1723C>T |
p.R575* |
Chr.1:
41028718-41028718
on Build GRCh38
|
3489636 |
c.1807C>T |
p.L603L |
Chr.1:
41028598-41028598
on Build GRCh38
|
6772742 |
c.1724G>A |
p.R575Q |
Chr.1:
41028717-41028717
on Build GRCh38
|
3671763 |
c.1508-1G>T |
p.? |
Chr.1:
41028727-41028727
on Build GRCh38
|
1224798 |
c.1516C>T |
p.R506* |
Chr.1:
41028718-41028718
on Build GRCh38
|
3671761 |
c.1715-1G>T |
p.? |
Chr.1:
41028727-41028727
on Build GRCh38
|
6318807 |
c.1625C>A |
p.P542H |
Chr.1:
41028609-41028609
on Build GRCh38
|
5954880 |
c.1829G>A |
p.G610E |
Chr.1:
41028612-41028612
on Build GRCh38
|
6772721 |
c.1813C>T |
p.R605C |
Chr.1:
41028592-41028592
on Build GRCh38
|