| 6744088 |
c.161T>C |
p.L54P |
Chr.1:
145917712-145917712
on Build GRCh38
|
| 1688457 |
c.160C>T |
p.L54F |
Chr.1:
145917713-145917713
on Build GRCh38
|
| 6744085 |
c.103C>T |
p.H35Y |
Chr.1:
145917770-145917770
on Build GRCh38
|
| 5341516 |
c.137G>A |
p.R46Q |
Chr.1:
145917736-145917736
on Build GRCh38
|
| 1637006 |
c.111C>T |
p.A37A |
Chr.1:
145917762-145917762
on Build GRCh38
|
| 222549 |
c.107G>A |
p.G36E |
Chr.1:
145917766-145917766
on Build GRCh38
|
| 5678001 |
c.104A>T |
p.H35L |
Chr.1:
145917769-145917769
on Build GRCh38
|
| 3399668 |
c.116C>T |
p.P39L |
Chr.1:
145917757-145917757
on Build GRCh38
|
| 7316628 |
c.99G>C |
p.Q33H |
Chr.1:
145917774-145917774
on Build GRCh38
|
| 1261955 |
c.93G>C |
p.A31A |
Chr.1:
145917780-145917780
on Build GRCh38
|
| 7195943 |
c.95T>A |
p.L32Q |
Chr.1:
145917778-145917778
on Build GRCh38
|
| 5951184 |
c.88C>G |
p.H30D |
Chr.1:
145917785-145917785
on Build GRCh38
|
| 895182 |
c.136C>T |
p.R46* |
Chr.1:
145917737-145917737
on Build GRCh38
|