KIAA1107 | Mutation | Missense | ENST00000370378.4 |
g.92649681G>A
|
c.3859G>A
|
p.Ala1287Thr
|
probably damaging
| HLE |
KIAA1107 | Mutation | Missense | ENST00000370378.4 |
g.92649681G>A
|
c.3859G>A
|
p.Ala1287Thr
|
probably damaging
| HLF |
KIAA1107 | Mutation | Missense | ENST00000370378.4 |
g.92646670G>T
|
c.2116G>T
|
p.Asp706Tyr
|
possibly damaging
| JHH2 |
KIAA1107 | Mutation | Missense | ENST00000370378.4 |
g.92642596G>A
|
c.532G>A
|
p.Ala178Thr
|
benign
| SNU354 |