5844136 |
c.197_198GG>AA |
p.G66E |
Chr.1:
159714002-159714003
on Build GRCh38
|
5844135 |
c.203G>A |
p.S68N |
Chr.1:
159713997-159713997
on Build GRCh38
|
3802429 |
c.185C>G |
p.S62C |
Chr.1:
159714015-159714015
on Build GRCh38
|
5911281 |
c.86T>A |
p.F29Y |
Chr.1:
159714114-159714114
on Build GRCh38
|
7075937 |
c.246C>G |
p.L82L |
Chr.1:
159713954-159713954
on Build GRCh38
|
372554 |
c.212C>A |
p.S71* |
Chr.1:
159713988-159713988
on Build GRCh38
|
1472849 |
c.148G>T |
p.A50S |
Chr.1:
159714052-159714052
on Build GRCh38
|
352843 |
c.157G>C |
p.V53L |
Chr.1:
159714043-159714043
on Build GRCh38
|
5496035 |
c.244C>T |
p.L82F |
Chr.1:
159713956-159713956
on Build GRCh38
|
1601088 |
c.129G>A |
p.P43P |
Chr.1:
159714071-159714071
on Build GRCh38
|
5568679 |
c.187T>G |
p.S63A |
Chr.1:
159714013-159714013
on Build GRCh38
|
1472850 |
c.135G>T |
p.T45T |
Chr.1:
159714065-159714065
on Build GRCh38
|
6873559 |
c.210C>T |
p.F70F |
Chr.1:
159713990-159713990
on Build GRCh38
|
7341214 |
c.102T>A |
p.D34E |
Chr.1:
159714098-159714098
on Build GRCh38
|
7336102 |
c.185C>T |
p.S62F |
Chr.1:
159714015-159714015
on Build GRCh38
|
234576 |
c.135G>A |
p.T45T |
Chr.1:
159714065-159714065
on Build GRCh38
|
7362743 |
c.100G>T |
p.D34Y |
Chr.1:
159714100-159714100
on Build GRCh38
|
2084690 |
c.139C>G |
p.P47A |
Chr.1:
159714061-159714061
on Build GRCh38
|
3863228 |
c.225G>A |
p.K75K |
Chr.1:
159713975-159713975
on Build GRCh38
|
3863227 |
c.238G>A |
p.E80K |
Chr.1:
159713962-159713962
on Build GRCh38
|
2084686 |
c.204T>C |
p.S68S |
Chr.1:
159713996-159713996
on Build GRCh38
|
7336101 |
c.188C>T |
p.S63L |
Chr.1:
159714012-159714012
on Build GRCh38
|
6058739 |
c.116C>T |
p.S39F |
Chr.1:
159714084-159714084
on Build GRCh38
|
2084695 |
c.98C>T |
p.S33L |
Chr.1:
159714102-159714102
on Build GRCh38
|
4531450 |
c.178G>A |
p.E60K |
Chr.1:
159714022-159714022
on Build GRCh38
|
898053 |
c.99G>A |
p.S33S |
Chr.1:
159714101-159714101
on Build GRCh38
|
898052 |
c.225G>T |
p.K75N |
Chr.1:
159713975-159713975
on Build GRCh38
|
3376798 |
c.177G>A |
p.T59T |
Chr.1:
159714023-159714023
on Build GRCh38
|
340151 |
c.116C>A |
p.S39Y |
Chr.1:
159714084-159714084
on Build GRCh38
|
4023987 |
c.217G>A |
p.A73T |
Chr.1:
159713983-159713983
on Build GRCh38
|
3476578 |
c.212C>T |
p.S71L |
Chr.1:
159713988-159713988
on Build GRCh38
|
675945 |
c.89C>T |
p.P30L |
Chr.1:
159714111-159714111
on Build GRCh38
|
3476577 |
c.227G>A |
p.R76K |
Chr.1:
159713973-159713973
on Build GRCh38
|
898054 |
c.94G>T |
p.E32* |
Chr.1:
159714106-159714106
on Build GRCh38
|
6635697 |
c.237T>C |
p.N79N |
Chr.1:
159713963-159713963
on Build GRCh38
|
675943 |
c.88C>T |
p.P30S |
Chr.1:
159714112-159714112
on Build GRCh38
|
6635699 |
c.69G>A |
p.S23S |
Chr.1:
159714131-159714131
on Build GRCh38
|