7244660 |
c.229-10T>A |
p.? |
Chr.2:
202755528-202755528
on Build GRCh38
|
3372609 |
c.964C>T |
p.P322S |
Chr.2:
202755541-202755541
on Build GRCh38
|
1683889 |
c.341_342delAA |
p.K114fs*29 |
Chr.2:
202755650-202755651
on Build GRCh38
|
4090303 |
c.1021C>T |
p.R341W |
Chr.2:
202755598-202755598
on Build GRCh38
|
6658146 |
c.1028G>A |
p.R343Q |
Chr.2:
202755605-202755605
on Build GRCh38
|
5576640 |
c.997C>T |
p.P333S |
Chr.2:
202755574-202755574
on Build GRCh38
|
5576641 |
c.265C>T |
p.P89S |
Chr.2:
202755574-202755574
on Build GRCh38
|
6658147 |
c.296G>A |
p.R99Q |
Chr.2:
202755605-202755605
on Build GRCh38
|
1404607 |
c.303C>T |
p.S101S |
Chr.2:
202755612-202755612
on Build GRCh38
|
1186085 |
c.371T>C |
p.I124T |
Chr.2:
202755680-202755680
on Build GRCh38
|
1683888 |
c.1073_1074delAA |
p.K358fs*29 |
Chr.2:
202755650-202755651
on Build GRCh38
|
6658128 |
c.1022G>A |
p.R341Q |
Chr.2:
202755599-202755599
on Build GRCh38
|
4892637 |
c.263T>G |
p.I88S |
Chr.2:
202755572-202755572
on Build GRCh38
|
4892636 |
c.995T>G |
p.I332S |
Chr.2:
202755572-202755572
on Build GRCh38
|
4764411 |
c.974A>T |
p.K325M |
Chr.2:
202755551-202755551
on Build GRCh38
|
1404606 |
c.1035C>T |
p.S345S |
Chr.2:
202755612-202755612
on Build GRCh38
|
3576417 |
c.238C>T |
p.P80S |
Chr.2:
202755547-202755547
on Build GRCh38
|
4764412 |
c.242A>T |
p.K81M |
Chr.2:
202755551-202755551
on Build GRCh38
|
4514345 |
c.239C>T |
p.P80L |
Chr.2:
202755548-202755548
on Build GRCh38
|
1186084 |
c.1103T>C |
p.I368T |
Chr.2:
202755680-202755680
on Build GRCh38
|
6658129 |
c.290G>A |
p.R97Q |
Chr.2:
202755599-202755599
on Build GRCh38
|
3372610 |
c.232C>T |
p.P78S |
Chr.2:
202755541-202755541
on Build GRCh38
|
7320405 |
c.1089G>T |
p.K363N |
Chr.2:
202755666-202755666
on Build GRCh38
|
3576416 |
c.970C>T |
p.P324S |
Chr.2:
202755547-202755547
on Build GRCh38
|
4514344 |
c.971C>T |
p.P324L |
Chr.2:
202755548-202755548
on Build GRCh38
|
7244659 |
c.961-10T>A |
p.? |
Chr.2:
202755528-202755528
on Build GRCh38
|
4090304 |
c.289C>T |
p.R97W |
Chr.2:
202755598-202755598
on Build GRCh38
|
7320406 |
c.357G>T |
p.K119N |
Chr.2:
202755666-202755666
on Build GRCh38
|
280932 |
c.372+4A>C |
p.? |
Chr.2:
202755685-202755685
on Build GRCh38
|