6592440 |
c.480-4delT |
p.? |
Chr.1:
147659043-147659043
on Build GRCh38
|
5900976 |
c.559+4C>T |
p.? |
Chr.1:
147658956-147658956
on Build GRCh38
|
6592442 |
c.520C>T |
p.R174C |
Chr.1:
147658999-147658999
on Build GRCh38
|
4762422 |
c.525T>A |
p.C175* |
Chr.1:
147658994-147658994
on Build GRCh38
|
2121801 |
c.503G>A |
p.R168Q |
Chr.1:
147659016-147659016
on Build GRCh38
|
3473214 |
c.502C>T |
p.R168W |
Chr.1:
147659017-147659017
on Build GRCh38
|
2121802 |
c.502C>T |
p.R168W |
Chr.1:
147659017-147659017
on Build GRCh38
|
3473216 |
c.484C>T |
p.R162C |
Chr.1:
147659035-147659035
on Build GRCh38
|
5745711 |
c.505A>G |
p.N169D |
Chr.1:
147659014-147659014
on Build GRCh38
|
6459251 |
c.495C>A |
p.N165K |
Chr.1:
147659024-147659024
on Build GRCh38
|
5017443 |
c.501delT |
p.R168fs*44 |
Chr.1:
147659018-147659018
on Build GRCh38
|
6459252 |
c.495C>A |
p.N165K |
Chr.1:
147659024-147659024
on Build GRCh38
|
6592441 |
c.480-4delT |
p.? |
Chr.1:
147659043-147659043
on Build GRCh38
|
4021842 |
c.533C>A |
p.A178D |
Chr.1:
147658986-147658986
on Build GRCh38
|
4900313 |
c.515C>T |
p.S172F |
Chr.1:
147659004-147659004
on Build GRCh38
|
4220243 |
c.503G>A |
p.R168Q |
Chr.1:
147659016-147659016
on Build GRCh38
|
352051 |
c.515C>A |
p.S172Y |
Chr.1:
147659004-147659004
on Build GRCh38
|
5745710 |
c.505A>G |
p.N169D |
Chr.1:
147659014-147659014
on Build GRCh38
|
1181640 |
c.485G>A |
p.R162H |
Chr.1:
147659034-147659034
on Build GRCh38
|
6592443 |
c.520C>T |
p.R174C |
Chr.1:
147658999-147658999
on Build GRCh38
|
4762423 |
c.525T>A |
p.C175* |
Chr.1:
147658994-147658994
on Build GRCh38
|
3473212 |
c.517A>G |
p.T173A |
Chr.1:
147659002-147659002
on Build GRCh38
|
3473215 |
c.484C>T |
p.R162C |
Chr.1:
147659035-147659035
on Build GRCh38
|
4021841 |
c.533C>A |
p.A178D |
Chr.1:
147658986-147658986
on Build GRCh38
|
5017444 |
c.501delT |
p.R168fs*44 |
Chr.1:
147659018-147659018
on Build GRCh38
|
5341530 |
c.515C>A |
p.S172Y |
Chr.1:
147659004-147659004
on Build GRCh38
|
3473213 |
c.517A>G |
p.T173A |
Chr.1:
147659002-147659002
on Build GRCh38
|
5900975 |
c.559+4C>T |
p.? |
Chr.1:
147658956-147658956
on Build GRCh38
|
4900314 |
c.515C>T |
p.S172F |
Chr.1:
147659004-147659004
on Build GRCh38
|