460081 |
c.1238C>T |
p.S413L |
Chr.1:
88943069-88943069
on Build GRCh38
|
5715359 |
c.1248_1249delTA |
p.C416fs*1 |
Chr.1:
88943058-88943059
on Build GRCh38
|
1748643 |
c.1223C>T |
p.S408L |
Chr.1:
88943084-88943084
on Build GRCh38
|
460082 |
c.1136C>T |
p.S379L |
Chr.1:
88943069-88943069
on Build GRCh38
|
1748644 |
c.1121C>T |
p.S374L |
Chr.1:
88943084-88943084
on Build GRCh38
|
7258053 |
c.1123G>A |
p.A375T |
Chr.1:
88943082-88943082
on Build GRCh38
|
5053733 |
c.1189T>C |
p.C397R |
Chr.1:
88943016-88943016
on Build GRCh38
|
5053732 |
c.1291T>C |
p.C431R |
Chr.1:
88943016-88943016
on Build GRCh38
|
4010415 |
c.1302A>G |
p.K434K |
Chr.1:
88943005-88943005
on Build GRCh38
|
4010418 |
c.1183C>T |
p.R395C |
Chr.1:
88943022-88943022
on Build GRCh38
|
4010416 |
c.1200A>G |
p.K400K |
Chr.1:
88943005-88943005
on Build GRCh38
|
4010419 |
c.1239A>G |
p.S413S |
Chr.1:
88943068-88943068
on Build GRCh38
|
229872 |
c.1130_1131CC>TT |
p.P377>? |
Chr.1:
88943074-88943075
on Build GRCh38
|
4010417 |
c.1285C>T |
p.R429C |
Chr.1:
88943022-88943022
on Build GRCh38
|
229873 |
c.1232_1233CC>TT |
p.P411>? |
Chr.1:
88943074-88943075
on Build GRCh38
|
4010420 |
c.1137A>G |
p.S379S |
Chr.1:
88943068-88943068
on Build GRCh38
|
296665 |
c.1234G>A |
p.V412I |
Chr.1:
88943073-88943073
on Build GRCh38
|
296664 |
c.1132G>A |
p.V378I |
Chr.1:
88943073-88943073
on Build GRCh38
|
5715360 |
c.1146_1147delTA |
p.C382fs*1 |
Chr.1:
88943058-88943059
on Build GRCh38
|
3419546 |
c.1275G>T |
p.E425D |
Chr.1:
88943032-88943032
on Build GRCh38
|
4462087 |
c.1232C>T |
p.P411L |
Chr.1:
88943075-88943075
on Build GRCh38
|
3419547 |
c.1173G>T |
p.E391D |
Chr.1:
88943032-88943032
on Build GRCh38
|
7258052 |
c.1225G>A |
p.A409T |
Chr.1:
88943082-88943082
on Build GRCh38
|
4462088 |
c.1130C>T |
p.P377L |
Chr.1:
88943075-88943075
on Build GRCh38
|