MYLK | Mutation | In-Frame | ENST00000360304.3 |
g.123337614_123337616del
|
c.5370_5372del
|
p.Glu1790del
|
damaging
| SNU449 |
MYLK | Mutation | Missense | ENST00000346322.5 |
g.123456263G>A
|
c.716C>T
|
p.Ser239Leu
|
probably damaging
| Hep3B |
MYLK | Mutation | Missense | ENST00000346322.5 |
g.123456362C>T
|
c.617G>A
|
p.Arg206His
|
benign
| SNU182 |
MYLK | Mutation | Missense | ENST00000346322.5 |
g.123457877C>T
|
c.455G>A
|
p.Arg152His
|
probably damaging
| SNU449 |
MYLK | Mutation | Missense | ENST00000359169.1 |
g.123426623C>G
|
c.2368G>C
|
p.Gly790Arg
|
probably damaging
| PLC.PRF5 |
MYLK | Mutation | Missense | ENST00000359169.1 |
g.123427662C>T
|
c.2023G>A
|
p.Gly675Arg
|
probably damaging
| SNU368 |