1014034 |
c.1153G>T |
p.E385* |
Chr.2:
189692368-189692368
on Build GRCh38
|
1014035 |
c.940G>T |
p.E314* |
Chr.2:
189692368-189692368
on Build GRCh38
|
5547106 |
c.1086_1095del10 |
p.R363fs*39 |
Chr.2:
189692301-189692310
on Build GRCh38
|
2712247 |
c.1060C>T |
p.R354* |
Chr.2:
189692275-189692275
on Build GRCh38
|
2712248 |
c.847C>T |
p.R283* |
Chr.2:
189692275-189692275
on Build GRCh38
|
4392581 |
c.1109T>C |
p.F370S |
Chr.2:
189692324-189692324
on Build GRCh38
|
1745223 |
c.1127_1128delAA |
p.Q376fs*9 |
Chr.2:
189692342-189692343
on Build GRCh38
|
5547107 |
c.873_882del10 |
p.R292fs*39 |
Chr.2:
189692301-189692310
on Build GRCh38
|
4459662 |
c.922C>T |
p.H308Y |
Chr.2:
189692350-189692350
on Build GRCh38
|
6599957 |
c.1065A>C |
p.E355D |
Chr.2:
189692280-189692280
on Build GRCh38
|
6319328 |
c.1138G>T |
p.V380F |
Chr.2:
189692353-189692353
on Build GRCh38
|
5618366 |
c.1148G>A |
p.G383E |
Chr.2:
189692363-189692363
on Build GRCh38
|
3575523 |
c.1111C>T |
p.H371Y |
Chr.2:
189692326-189692326
on Build GRCh38
|
4988784 |
c.1163T>C |
p.I388T |
Chr.2:
189692378-189692378
on Build GRCh38
|
6599958 |
c.852A>C |
p.E284D |
Chr.2:
189692280-189692280
on Build GRCh38
|
3575524 |
c.898C>T |
p.H300Y |
Chr.2:
189692326-189692326
on Build GRCh38
|
1745224 |
c.914_915delAA |
p.Q305fs*9 |
Chr.2:
189692342-189692343
on Build GRCh38
|
6319329 |
c.925G>T |
p.V309F |
Chr.2:
189692353-189692353
on Build GRCh38
|
4988785 |
c.950T>C |
p.I317T |
Chr.2:
189692378-189692378
on Build GRCh38
|
4459661 |
c.1135C>T |
p.H379Y |
Chr.2:
189692350-189692350
on Build GRCh38
|
4392582 |
c.896T>C |
p.F299S |
Chr.2:
189692324-189692324
on Build GRCh38
|
5618367 |
c.935G>A |
p.G312E |
Chr.2:
189692363-189692363
on Build GRCh38
|