5377514 |
c.242G>A |
p.R81K |
Chr.1:
145730912-145730912
on Build GRCh38
|
5553721 |
c.211G>C |
p.E71Q |
Chr.1:
145730881-145730881
on Build GRCh38
|
5377515 |
c.164G>A |
p.G55E |
Chr.1:
145730834-145730834
on Build GRCh38
|
4639731 |
c.114G>A |
p.T38T |
Chr.1:
145730784-145730784
on Build GRCh38
|
5917045 |
c.400+8C>T |
p.? |
Chr.1:
145731078-145731078
on Build GRCh38
|
5911244 |
c.196G>A |
p.G66R |
Chr.1:
145730866-145730866
on Build GRCh38
|
895248 |
c.115C>T |
p.R39* |
Chr.1:
145730785-145730785
on Build GRCh38
|
6121041 |
c.241A>G |
p.R81G |
Chr.1:
145730911-145730911
on Build GRCh38
|
5930440 |
c.400+1G>A |
p.? |
Chr.1:
145731071-145731071
on Build GRCh38
|
895245 |
c.371A>G |
p.Q124R |
Chr.1:
145731041-145731041
on Build GRCh38
|
5887175 |
c.364C>A |
p.R122S |
Chr.1:
145731034-145731034
on Build GRCh38
|
895247 |
c.151G>T |
p.E51* |
Chr.1:
145730821-145730821
on Build GRCh38
|
895246 |
c.365G>A |
p.R122H |
Chr.1:
145731035-145731035
on Build GRCh38
|
6873450 |
c.218G>A |
p.S73N |
Chr.1:
145730888-145730888
on Build GRCh38
|
1200227 |
c.368T>G |
p.L123R |
Chr.1:
145731038-145731038
on Build GRCh38
|
1626388 |
c.251G>A |
p.G84E |
Chr.1:
145730921-145730921
on Build GRCh38
|
6880512 |
c.310C>T |
p.P104S |
Chr.1:
145730980-145730980
on Build GRCh38
|
1688471 |
c.268G>A |
p.E90K |
Chr.1:
145730938-145730938
on Build GRCh38
|
6623407 |
c.311C>T |
p.P104L |
Chr.1:
145730981-145730981
on Build GRCh38
|
6623409 |
c.112A>G |
p.T38A |
Chr.1:
145730782-145730782
on Build GRCh38
|
6623408 |
c.314T>C |
p.L105S |
Chr.1:
145730984-145730984
on Build GRCh38
|
3735930 |
c.277T>A |
p.S93T |
Chr.1:
145730947-145730947
on Build GRCh38
|
3473163 |
c.110G>A |
p.G37E |
Chr.1:
145730780-145730780
on Build GRCh38
|
4004780 |
c.259G>A |
p.G87S |
Chr.1:
145730929-145730929
on Build GRCh38
|
2121232 |
c.364C>T |
p.R122C |
Chr.1:
145731034-145731034
on Build GRCh38
|
2121234 |
c.197G>T |
p.G66V |
Chr.1:
145730867-145730867
on Build GRCh38
|
279703 |
c.167T>G |
p.F56C |
Chr.1:
145730837-145730837
on Build GRCh38
|