4027494 |
c.918G>A |
p.W306* |
Chr.1:
206115973-206115973
on Build GRCh38
|
1660712 |
c.862C>A |
p.L288M |
Chr.1:
206116029-206116029
on Build GRCh38
|
2215761 |
c.873C>T |
p.I291I |
Chr.1:
206116018-206116018
on Build GRCh38
|
3864274 |
c.889T>A |
p.F297I |
Chr.1:
206116002-206116002
on Build GRCh38
|
1338258 |
c.865G>A |
p.A289T |
Chr.1:
206116026-206116026
on Build GRCh38
|
4513218 |
c.930C>T |
p.A310A |
Chr.1:
206115961-206115961
on Build GRCh38
|
4892943 |
c.934G>A |
p.D312N |
Chr.1:
206115957-206115957
on Build GRCh38
|
902900 |
c.859G>A |
p.V287M |
Chr.1:
206116032-206116032
on Build GRCh38
|
5689867 |
c.886delC |
p.F297fs*84 |
Chr.1:
206116005-206116005
on Build GRCh38
|
6124009 |
c.931C>A |
p.P311T |
Chr.1:
206115960-206115960
on Build GRCh38
|
5589772 |
c.919G>A |
p.D307N |
Chr.1:
206115972-206115972
on Build GRCh38
|
1237079 |
c.858C>T |
p.I286I |
Chr.1:
206116033-206116033
on Build GRCh38
|
69040 |
c.895delA |
p.S299fs*82 |
Chr.1:
206115996-206115996
on Build GRCh38
|