| 5043476 |
c.2111G>T |
p.R704I |
Chr.2:
72379740-72379740
on Build GRCh38
|
| 377570 |
c.673G>T |
p.V225L |
Chr.2:
72379789-72379789
on Build GRCh38
|
| 5059046 |
c.2106C>T |
p.D702D |
Chr.2:
72379745-72379745
on Build GRCh38
|
| 5043477 |
c.722G>T |
p.R241I |
Chr.2:
72379740-72379740
on Build GRCh38
|
| 5059047 |
c.717C>T |
p.D239D |
Chr.2:
72379745-72379745
on Build GRCh38
|
| 3739909 |
c.702G>A |
p.Q234Q |
Chr.2:
72379760-72379760
on Build GRCh38
|
| 40066 |
c.684C>T |
p.L228L |
Chr.2:
72379778-72379778
on Build GRCh38
|
| 7133100 |
c.2037G>C |
p.L679F |
Chr.2:
72379814-72379814
on Build GRCh38
|
| 1409338 |
c.637G>A |
p.A213T |
Chr.2:
72379825-72379825
on Build GRCh38
|
| 4682045 |
c.2030C>T |
p.T677I |
Chr.2:
72379821-72379821
on Build GRCh38
|
| 5074127 |
c.1997C>T |
p.T666I |
Chr.2:
72379854-72379854
on Build GRCh38
|
| 2997994 |
c.2101T>G |
p.L701V |
Chr.2:
72379750-72379750
on Build GRCh38
|
| 3739908 |
c.2091G>A |
p.Q697Q |
Chr.2:
72379760-72379760
on Build GRCh38
|
| 1193487 |
c.2065C>T |
p.R689W |
Chr.2:
72379786-72379786
on Build GRCh38
|
| 2997996 |
c.2093A>G |
p.Q698R |
Chr.2:
72379758-72379758
on Build GRCh38
|
| 1193488 |
c.676C>T |
p.R226W |
Chr.2:
72379786-72379786
on Build GRCh38
|
| 4001741 |
c.627C>A |
p.C209* |
Chr.2:
72379835-72379835
on Build GRCh38
|
| 377569 |
c.2062G>T |
p.V688L |
Chr.2:
72379789-72379789
on Build GRCh38
|
| 6333468 |
c.733+7C>A |
p.? |
Chr.2:
72379722-72379722
on Build GRCh38
|
| 4001740 |
c.2016C>A |
p.C672* |
Chr.2:
72379835-72379835
on Build GRCh38
|
| 1409337 |
c.2026G>A |
p.A676T |
Chr.2:
72379825-72379825
on Build GRCh38
|
| 6333467 |
c.2122+7C>A |
p.? |
Chr.2:
72379722-72379722
on Build GRCh38
|
| 4682046 |
c.641C>T |
p.T214I |
Chr.2:
72379821-72379821
on Build GRCh38
|
| 4171186 |
c.677G>A |
p.R226Q |
Chr.2:
72379785-72379785
on Build GRCh38
|
| 5155416 |
c.2071C>A |
p.L691I |
Chr.2:
72379780-72379780
on Build GRCh38
|
| 7133099 |
c.648G>C |
p.L216F |
Chr.2:
72379814-72379814
on Build GRCh38
|
| 2997995 |
c.712T>G |
p.L238V |
Chr.2:
72379750-72379750
on Build GRCh38
|
| 2997997 |
c.704A>G |
p.Q235R |
Chr.2:
72379758-72379758
on Build GRCh38
|
| 4915325 |
c.2045T>C |
p.L682P |
Chr.2:
72379806-72379806
on Build GRCh38
|
| 4171185 |
c.2066G>A |
p.R689Q |
Chr.2:
72379785-72379785
on Build GRCh38
|
| 4915326 |
c.656T>C |
p.L219P |
Chr.2:
72379806-72379806
on Build GRCh38
|