5810866 |
c.973G>T |
p.E325* |
Chr.1:
172570163-172570163
on Build GRCh38
|
6459642 |
c.1458G>T |
p.K486N |
Chr.1:
172570171-172570171
on Build GRCh38
|
7210093 |
c.919C>T |
p.R307* |
Chr.1:
172570109-172570109
on Build GRCh38
|
6459640 |
c.1440A>G |
p.A480A |
Chr.1:
172570153-172570153
on Build GRCh38
|
7392404 |
c.940G>T |
p.E314* |
Chr.1:
172570130-172570130
on Build GRCh38
|
7352227 |
c.857-1G>T |
p.? |
Chr.1:
172570046-172570046
on Build GRCh38
|
2075180 |
c.885A>T |
p.G295G |
Chr.1:
172570075-172570075
on Build GRCh38
|
6792803 |
c.901delA |
p.K302fs*12 |
Chr.1:
172570091-172570091
on Build GRCh38
|
5810867 |
c.1450G>T |
p.E484* |
Chr.1:
172570163-172570163
on Build GRCh38
|
2075181 |
c.1362A>T |
p.G454G |
Chr.1:
172570075-172570075
on Build GRCh38
|
6246032 |
c.1363G>T |
p.G455C |
Chr.1:
172570076-172570076
on Build GRCh38
|
6459641 |
c.981G>T |
p.K327N |
Chr.1:
172570171-172570171
on Build GRCh38
|
6459639 |
c.963A>G |
p.A321A |
Chr.1:
172570153-172570153
on Build GRCh38
|
6459637 |
c.866T>G |
p.M289R |
Chr.1:
172570056-172570056
on Build GRCh38
|
899655 |
c.1431A>C |
p.K477N |
Chr.1:
172570144-172570144
on Build GRCh38
|
6459635 |
c.865A>C |
p.M289L |
Chr.1:
172570055-172570055
on Build GRCh38
|
899654 |
c.954A>C |
p.K318N |
Chr.1:
172570144-172570144
on Build GRCh38
|
6792804 |
c.1378delA |
p.K461fs*12 |
Chr.1:
172570091-172570091
on Build GRCh38
|
7210092 |
c.1396C>T |
p.R466* |
Chr.1:
172570109-172570109
on Build GRCh38
|
1689197 |
c.910C>T |
p.Q304* |
Chr.1:
172570100-172570100
on Build GRCh38
|
1689198 |
c.1387C>T |
p.Q463* |
Chr.1:
172570100-172570100
on Build GRCh38
|
4025119 |
c.1345C>T |
p.H449Y |
Chr.1:
172570058-172570058
on Build GRCh38
|
6459638 |
c.1343T>G |
p.M448R |
Chr.1:
172570056-172570056
on Build GRCh38
|
1733583 |
c.920G>T |
p.R307L |
Chr.1:
172570110-172570110
on Build GRCh38
|
6459636 |
c.1342A>C |
p.M448L |
Chr.1:
172570055-172570055
on Build GRCh38
|
1733584 |
c.1397G>T |
p.R466L |
Chr.1:
172570110-172570110
on Build GRCh38
|
6246031 |
c.886G>T |
p.G296C |
Chr.1:
172570076-172570076
on Build GRCh38
|
4025118 |
c.868C>T |
p.H290Y |
Chr.1:
172570058-172570058
on Build GRCh38
|
7392403 |
c.1417G>T |
p.E473* |
Chr.1:
172570130-172570130
on Build GRCh38
|
7352226 |
c.1334-1G>T |
p.? |
Chr.1:
172570046-172570046
on Build GRCh38
|