HMCN1 | Mutation | Missense | ENST00000271588.4 |
g.186031042G>A
|
c.7372G>A
|
p.Val2458Ile
|
benign
| SNU398 |
HMCN1 | Mutation | Missense | ENST00000271588.4 |
g.185984467C>A
|
c.4807C>A
|
p.Leu1603Ile
|
probably damaging
| PLC.PRF5 |
HMCN1 | Mutation | Missense | ENST00000271588.4 |
g.186089238G>T
|
c.12190G>T
|
p.Ala4064Ser
|
probably damaging
| PLC.PRF5 |
HMCN1 | Mutation | Missense | ENST00000271588.4 |
g.186057112C>G
|
c.9412C>G
|
p.Arg3138Gly
|
probably damaging
| JHH2 |
HMCN1 | Mutation | Missense | ENST00000271588.4 |
g.186062340C>A
|
c.9962C>A
|
p.Ala3321Asp
|
probably damaging
| JHH2 |