1172076 |
c.967T>C |
p.F323L |
Chr.1:
185922445-185922445
on Build GRCh38
|
254724 |
c.958C>T |
p.R320* |
Chr.1:
185922436-185922436
on Build GRCh38
|
4514429 |
c.973C>T |
p.R325* |
Chr.1:
185922451-185922451
on Build GRCh38
|
5010169 |
c.951T>C |
p.I317I |
Chr.1:
185922429-185922429
on Build GRCh38
|
4612990 |
c.993_994insA |
p.T334fs*25 |
Chr.1:
185922471-185922472
on Build GRCh38
|
4690707 |
c.993_994delCA |
p.F331fs*27 |
Chr.1:
185922471-185922472
on Build GRCh38
|
6202004 |
c.1008C>A |
p.S336R |
Chr.1:
185922486-185922486
on Build GRCh38
|
1254281 |
c.997A>C |
p.K333Q |
Chr.1:
185922475-185922475
on Build GRCh38
|
2122347 |
c.973C>G |
p.R325G |
Chr.1:
185922451-185922451
on Build GRCh38
|
900953 |
c.955T>C |
p.F319L |
Chr.1:
185922433-185922433
on Build GRCh38
|
5422791 |
c.998A>T |
p.K333I |
Chr.1:
185922476-185922476
on Build GRCh38
|
4410159 |
c.967T>G |
p.F323V |
Chr.1:
185922445-185922445
on Build GRCh38
|
2122348 |
c.986T>C |
p.L329P |
Chr.1:
185922464-185922464
on Build GRCh38
|
2122349 |
c.994delA |
p.T334fs*26 |
Chr.1:
185922472-185922472
on Build GRCh38
|
2122351 |
c.1021+8T>C |
p.? |
Chr.1:
185922507-185922507
on Build GRCh38
|
6901200 |
c.1010G>A |
p.R337K |
Chr.1:
185922488-185922488
on Build GRCh38
|
4601002 |
c.1000A>T |
p.T334S |
Chr.1:
185922478-185922478
on Build GRCh38
|
5457798 |
c.1007G>A |
p.S336N |
Chr.1:
185922485-185922485
on Build GRCh38
|