MACF1 | Mutation | Missense | ENST00000317713.7 |
g.39827080C>T
|
c.6316C>T
|
p.Arg2106Cys
|
benign
| Huh7 |
MACF1 | Mutation | Missense | ENST00000317713.7 |
g.39818694G>A
|
c.5029G>A
|
p.Glu1677Lys
|
probably damaging
| HLE |
MACF1 | Mutation | Missense | ENST00000317713.7 |
g.39818694G>A
|
c.5029G>A
|
p.Glu1677Lys
|
probably damaging
| HLF |
MACF1 | Mutation | Missense | ENST00000317713.7 |
g.39816512A>T
|
c.4835A>T
|
p.Asp1612Val
|
possibly damaging
| Li7 |
MACF1 | Mutation | Missense | ENST00000317713.7 |
g.39847651G>T
|
c.7489G>T
|
p.Val2497Phe
|
benign
| SNU878 |
MACF1 | Mutation | Truncating | ENST00000317713.7 |
g.39749857G>A
|
c.1050G>A
|
p.K350K (Splice)
|
damaging
| Mahlavu |