FAM189A2 | Mutation | In-Frame | ENST00000257515.8 |
g.72003322_72003324del
|
c.1105_1107del
|
p.Glu369del
|
damaging
| HLE |
FAM189A2 | Mutation | In-Frame | ENST00000257515.8 |
g.72003322_72003324del
|
c.1105_1107del
|
p.Glu369del
|
damaging
| HLF |
FAM189A2 | Mutation | In-Frame | ENST00000257515.8 |
g.72003322_72003324del
|
c.1105_1107del
|
p.Glu369del
|
damaging
| JHH1 |
FAM189A2 | Mutation | Missense | ENST00000257515.8 |
g.72003275T>A
|
c.1058T>A
|
p.Ile353Asn
|
probably damaging
| Huh7 |