| 7240197 |
c.547G>T |
p.G183* |
Chr.2:
85847907-85847907
on Build GRCh38
|
| 121956 |
c.612G>T |
p.L204L |
Chr.2:
85847911-85847911
on Build GRCh38
|
| 4096073 |
c.557A>G |
p.H186R |
Chr.2:
85847966-85847966
on Build GRCh38
|
| 1023410 |
c.541C>T |
p.H181Y |
Chr.2:
85847982-85847982
on Build GRCh38
|
| 1023409 |
c.660A>G |
p.I220M |
Chr.2:
85847863-85847863
on Build GRCh38
|
| 4096074 |
c.488A>G |
p.H163R |
Chr.2:
85847966-85847966
on Build GRCh38
|
| 4554280 |
c.547G>A |
p.G183R |
Chr.2:
85847907-85847907
on Build GRCh38
|
| 1752701 |
c.457G>C |
p.E153Q |
Chr.2:
85847997-85847997
on Build GRCh38
|
| 5892787 |
c.412C>T |
p.P138S |
Chr.2:
85848042-85848042
on Build GRCh38
|
| 1752699 |
c.492G>A |
p.L164L |
Chr.2:
85847962-85847962
on Build GRCh38
|
| 5862929 |
c.377_378delCC |
p.P126fs*4 |
Chr.2:
85848076-85848077
on Build GRCh38
|
| 460985 |
c.622G>A |
p.E208K |
Chr.2:
85847901-85847901
on Build GRCh38
|
| 5005120 |
c.580G>A |
p.D194N |
Chr.2:
85847874-85847874
on Build GRCh38
|
| 6791085 |
c.475G>A |
p.D159N |
Chr.2:
85848048-85848048
on Build GRCh38
|
| 4554279 |
c.616G>A |
p.G206R |
Chr.2:
85847907-85847907
on Build GRCh38
|
| 1134550 |
c.553G>A |
p.E185K |
Chr.2:
85847901-85847901
on Build GRCh38
|
| 3391880 |
c.581A>G |
p.D194G |
Chr.2:
85847873-85847873
on Build GRCh38
|
| 5892786 |
c.481C>T |
p.P161S |
Chr.2:
85848042-85848042
on Build GRCh38
|
| 3583785 |
c.411T>A |
p.P137P |
Chr.2:
85848043-85848043
on Build GRCh38
|
| 1149262 |
c.366G>T |
p.V122V |
Chr.2:
85848088-85848088
on Build GRCh38
|
| 2822800 |
c.473A>G |
p.Y158C |
Chr.2:
85848050-85848050
on Build GRCh38
|
| 5862928 |
c.446_447delCC |
p.P149fs*4 |
Chr.2:
85848076-85848077
on Build GRCh38
|
| 1752700 |
c.526G>C |
p.E176Q |
Chr.2:
85847997-85847997
on Build GRCh38
|
| 2822801 |
c.404A>G |
p.Y135C |
Chr.2:
85848050-85848050
on Build GRCh38
|
| 1752698 |
c.561G>A |
p.L187L |
Chr.2:
85847962-85847962
on Build GRCh38
|
| 7240196 |
c.616G>T |
p.G206* |
Chr.2:
85847907-85847907
on Build GRCh38
|
| 5005119 |
c.649G>A |
p.D217N |
Chr.2:
85847874-85847874
on Build GRCh38
|
| 723011 |
c.435G>T |
p.V145V |
Chr.2:
85848088-85848088
on Build GRCh38
|
| 6791086 |
c.406G>A |
p.D136N |
Chr.2:
85848048-85848048
on Build GRCh38
|
| 3583784 |
c.480T>A |
p.P160P |
Chr.2:
85848043-85848043
on Build GRCh38
|
| 1153864 |
c.472C>T |
p.H158Y |
Chr.2:
85847982-85847982
on Build GRCh38
|
| 3583786 |
c.479C>T |
p.P160L |
Chr.2:
85848044-85848044
on Build GRCh38
|
| 3391879 |
c.650A>G |
p.D217G |
Chr.2:
85847873-85847873
on Build GRCh38
|
| 3583787 |
c.410C>T |
p.P137L |
Chr.2:
85848044-85848044
on Build GRCh38
|
| 1153863 |
c.591A>G |
p.I197M |
Chr.2:
85847863-85847863
on Build GRCh38
|