ITPR2 | Mutation | In-Frame | ENST00000381340.3 |
g.26709269_26709289del
|
c.4841_4861del
|
p.Glu1614_Met1621delinsVal
|
damaging
| JHH7 |
ITPR2 | Mutation | Missense | ENST00000381340.3 |
g.26731754C>T
|
c.4522G>A
|
p.Val1508Ile
|
benign
| Hep3B |
ITPR2 | Mutation | Missense | ENST00000381340.3 |
g.26540381C>A
|
c.7843G>T
|
p.Ala2615Ser
|
possibly damaging
| HLE |
ITPR2 | Mutation | Missense | ENST00000381340.3 |
g.26540381C>A
|
c.7843G>T
|
p.Ala2615Ser
|
possibly damaging
| HLF |
ITPR2 | Mutation | Missense | ENST00000381340.3 |
g.26784827G>A
|
c.2906C>T
|
p.Thr969Ile
|
possibly damaging
| JHH6 |