IVL | Mutation | Missense | ENST00000368764.3 |
g.152882758A>G
|
c.485A>G
|
p.His162Arg
|
possibly damaging
| SNU475 |
IVL | Mutation | Missense | ENST00000368764.3 |
g.152883501G>A
|
c.1228G>A
|
p.Glu410Lys
|
benign
| HLE |
IVL | Mutation | Missense | ENST00000368764.3 |
g.152883501G>A
|
c.1228G>A
|
p.Glu410Lys
|
benign
| HLF |
IVL | Mutation | Missense | ENST00000368764.3 |
g.152883061T>C
|
c.788T>C
|
p.Leu263Pro
|
probably damaging
| Li7 |
IVL | Mutation | Missense | ENST00000368764.3 |
g.152882758A>G
|
c.485A>G
|
p.His162Arg
|
possibly damaging
| SNU354 |
IVL | Mutation | Missense | ENST00000368764.3 |
g.152882410A>G
|
c.137A>G
|
p.Lys46Arg
|
probably damaging
| SNU739 |