302808 |
c.562T>C |
p.S188P |
Chr.1:
248593207-248593207
on Build GRCh38
|
6509061 |
c.558G>T |
p.K186N |
Chr.1:
248593211-248593211
on Build GRCh38
|
907361 |
c.605G>A |
p.C202Y |
Chr.1:
248593164-248593164
on Build GRCh38
|
907360 |
c.682A>G |
p.M228V |
Chr.1:
248593087-248593087
on Build GRCh38
|
907359 |
c.816G>T |
p.M272I |
Chr.1:
248592953-248592953
on Build GRCh38
|
6485336 |
c.761C>T |
p.A254V |
Chr.1:
248593008-248593008
on Build GRCh38
|
6481785 |
c.796C>A |
p.Q266K |
Chr.1:
248592973-248592973
on Build GRCh38
|
5234756 |
c.707delA |
p.K236fs*37 |
Chr.1:
248593062-248593062
on Build GRCh38
|
5024564 |
c.578C>G |
p.S193* |
Chr.1:
248593191-248593191
on Build GRCh38
|
3789790 |
c.803C>T |
p.P268L |
Chr.1:
248592966-248592966
on Build GRCh38
|
6347129 |
c.800C>A |
p.T267N |
Chr.1:
248592969-248592969
on Build GRCh38
|
2233924 |
c.629C>A |
p.P210H |
Chr.1:
248593140-248593140
on Build GRCh38
|
2233922 |
c.676C>T |
p.H226Y |
Chr.1:
248593093-248593093
on Build GRCh38
|
3741188 |
c.561C>T |
p.L187L |
Chr.1:
248593208-248593208
on Build GRCh38
|
3736716 |
c.748C>T |
p.L250F |
Chr.1:
248593021-248593021
on Build GRCh38
|
6125789 |
c.728C>T |
p.S243F |
Chr.1:
248593041-248593041
on Build GRCh38
|
4911295 |
c.719C>T |
p.T240I |
Chr.1:
248593050-248593050
on Build GRCh38
|
2149630 |
c.635C>T |
p.T212M |
Chr.1:
248593134-248593134
on Build GRCh38
|
7244936 |
c.597G>T |
p.M199I |
Chr.1:
248593172-248593172
on Build GRCh38
|
175732 |
c.811G>T |
p.D271Y |
Chr.1:
248592958-248592958
on Build GRCh38
|
7233531 |
c.767T>C |
p.I256T |
Chr.1:
248593002-248593002
on Build GRCh38
|
1690168 |
c.688T>C |
p.S230P |
Chr.1:
248593081-248593081
on Build GRCh38
|
1668671 |
c.739G>A |
p.V247M |
Chr.1:
248593030-248593030
on Build GRCh38
|
370384 |
c.763G>T |
p.A255S |
Chr.1:
248593006-248593006
on Build GRCh38
|
6062666 |
c.594C>T |
p.F198F |
Chr.1:
248593175-248593175
on Build GRCh38
|
680295 |
c.732C>A |
p.H244Q |
Chr.1:
248593037-248593037
on Build GRCh38
|
1341185 |
c.716C>G |
p.T239S |
Chr.1:
248593053-248593053
on Build GRCh38
|
4504812 |
c.675C>T |
p.I225I |
Chr.1:
248593094-248593094
on Build GRCh38
|
1317548 |
c.771C>A |
p.Y257* |
Chr.1:
248592998-248592998
on Build GRCh38
|
5917323 |
c.805G>A |
p.E269K |
Chr.1:
248592964-248592964
on Build GRCh38
|
1296184 |
c.676C>G |
p.H226D |
Chr.1:
248593093-248593093
on Build GRCh38
|
4143672 |
c.746G>T |
p.S249I |
Chr.1:
248593023-248593023
on Build GRCh38
|
6734249 |
c.703A>G |
p.K235E |
Chr.1:
248593066-248593066
on Build GRCh38
|
124970 |
c.701G>A |
p.R234Q |
Chr.1:
248593068-248593068
on Build GRCh38
|
3487271 |
c.578C>T |
p.S193L |
Chr.1:
248593191-248593191
on Build GRCh38
|
3487270 |
c.667C>T |
p.L223F |
Chr.1:
248593102-248593102
on Build GRCh38
|
4030785 |
c.651T>C |
p.S217S |
Chr.1:
248593118-248593118
on Build GRCh38
|
6542272 |
c.654C>A |
p.Y218* |
Chr.1:
248593115-248593115
on Build GRCh38
|
4030784 |
c.738A>T |
p.T246T |
Chr.1:
248593031-248593031
on Build GRCh38
|
3487269 |
c.726C>T |
p.S242S |
Chr.1:
248593043-248593043
on Build GRCh38
|
3487268 |
c.789C>T |
p.S263S |
Chr.1:
248592980-248592980
on Build GRCh38
|
3487267 |
c.811G>A |
p.D271N |
Chr.1:
248592958-248592958
on Build GRCh38
|
6528201 |
c.766A>G |
p.I256V |
Chr.1:
248593003-248593003
on Build GRCh38
|