4024992 |
c.1722G>A |
p.E574E |
Chr.1:
169854717-169854717
on Build GRCh38
|
1683808 |
c.1547_1548delGG |
p.W516fs*1 |
Chr.1:
169854729-169854730
on Build GRCh38
|
6534023 |
c.1543T>C |
p.S515P |
Chr.1:
169854734-169854734
on Build GRCh38
|
899371 |
c.1528G>T |
p.D510Y |
Chr.1:
169854749-169854749
on Build GRCh38
|
5511590 |
c.1601T>C |
p.I534T |
Chr.1:
169854676-169854676
on Build GRCh38
|
4024997 |
c.1514A>G |
p.Q505R |
Chr.1:
169854763-169854763
on Build GRCh38
|
5511589 |
c.1763T>C |
p.I588T |
Chr.1:
169854676-169854676
on Build GRCh38
|
4024995 |
c.1557C>T |
p.C519C |
Chr.1:
169854720-169854720
on Build GRCh38
|
4024993 |
c.1560G>A |
p.E520E |
Chr.1:
169854717-169854717
on Build GRCh38
|
6534022 |
c.1705T>C |
p.S569P |
Chr.1:
169854734-169854734
on Build GRCh38
|
4024996 |
c.1676A>G |
p.Q559R |
Chr.1:
169854763-169854763
on Build GRCh38
|
899370 |
c.1690G>T |
p.D564Y |
Chr.1:
169854749-169854749
on Build GRCh38
|
4024994 |
c.1719C>T |
p.C573C |
Chr.1:
169854720-169854720
on Build GRCh38
|
5844465 |
c.1558G>A |
p.E520K |
Chr.1:
169854719-169854719
on Build GRCh38
|
1336136 |
c.1655C>A |
p.P552H |
Chr.1:
169854784-169854784
on Build GRCh38
|
4576570 |
c.1652A>G |
p.E551G |
Chr.1:
169854787-169854787
on Build GRCh38
|
5844464 |
c.1720G>A |
p.E574K |
Chr.1:
169854719-169854719
on Build GRCh38
|
7089688 |
c.1628G>T |
p.G543V |
Chr.1:
169854649-169854649
on Build GRCh38
|
5791547 |
c.1528G>C |
p.D510H |
Chr.1:
169854749-169854749
on Build GRCh38
|
6773638 |
c.1654C>T |
p.L552F |
Chr.1:
169854623-169854623
on Build GRCh38
|
424545 |
c.1550A>G |
p.D517G |
Chr.1:
169854727-169854727
on Build GRCh38
|
5727928 |
c.1513C>T |
p.Q505* |
Chr.1:
169854764-169854764
on Build GRCh38
|
5791546 |
c.1690G>C |
p.D564H |
Chr.1:
169854749-169854749
on Build GRCh38
|
5727927 |
c.1675C>T |
p.Q559* |
Chr.1:
169854764-169854764
on Build GRCh38
|
424544 |
c.1712A>G |
p.D571G |
Chr.1:
169854727-169854727
on Build GRCh38
|
72567 |
c.1534G>A |
p.E512K |
Chr.1:
169854743-169854743
on Build GRCh38
|
1336139 |
c.1472T>C |
p.I491T |
Chr.1:
169854805-169854805
on Build GRCh38
|
1683807 |
c.1709_1710delGG |
p.W570fs*1 |
Chr.1:
169854729-169854730
on Build GRCh38
|
3750575 |
c.1628G>C |
p.G543A |
Chr.1:
169854649-169854649
on Build GRCh38
|
1336137 |
c.1493C>A |
p.P498H |
Chr.1:
169854784-169854784
on Build GRCh38
|
6773637 |
c.1816C>T |
p.L606F |
Chr.1:
169854623-169854623
on Build GRCh38
|
7089687 |
c.1790G>T |
p.G597V |
Chr.1:
169854649-169854649
on Build GRCh38
|
4576571 |
c.1490A>G |
p.E497G |
Chr.1:
169854787-169854787
on Build GRCh38
|
3750574 |
c.1790G>C |
p.G597A |
Chr.1:
169854649-169854649
on Build GRCh38
|
1336138 |
c.1634T>C |
p.I545T |
Chr.1:
169854805-169854805
on Build GRCh38
|