RYR2 | Mutation | Missense | ENST00000366574.2 |
g.237660048G>C
|
c.2199G>C
|
p.Trp733Cys
|
probably damaging
| HepG2 |
RYR2 | Mutation | Missense | ENST00000366574.2 |
g.237949311A>G
|
c.13303A>G
|
p.Thr4435Ala
|
benign
| Hep3B |
RYR2 | Mutation | Missense | ENST00000366574.2 |
g.237604737A>C
|
c.1124A>C
|
p.Gln375Pro
|
probably damaging
| Li7 |
RYR2 | Mutation | Missense | ENST00000366574.2 |
g.237948091C>T
|
c.13079C>T
|
p.Ser4360Phe
|
benign
| Huh1 |
RYR2 | Mutation | Missense | ENST00000366574.2 |
g.237777549T>G
|
c.5121T>G
|
p.Ile1707Met
|
probably damaging
| SNU886 |