| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237791480G>A | CA007947 | RYR2 | c.*4620G>A (n.*4620G>A) c.13510G>A (p.Ala4504Thr) c.13549G>A (p.Ala4517Thr) c.5699G>A c.13528G>A (p.Ala4510Thr) c.3581G>A c.13477G>A (p.Ala4493Thr) c.13582G>A (p.Ala4528Thr) c.13579G>A (p.Ala4527Thr) c.13558G>A (p.Ala4520Thr) c.13552G>A (p.Ala4518Thr) c.13546G>A (p.Ala4516Thr) c.13522G>A (p.Ala4508Thr) c.13345G>A (p.Ala4449Thr) c.13489G>A (p.Ala4497Thr) c.13561G>A (p.Ala4521Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.237791480G>T | CA007958 | RYR2 | c.*4620G>T (n.*4620G>T) c.13510G>T (p.Ala4504Ser) c.13549G>T (p.Ala4517Ser) c.5699G>T c.13528G>T (p.Ala4510Ser) c.3581G>T c.13477G>T (p.Ala4493Ser) c.13582G>T (p.Ala4528Ser) c.13579G>T (p.Ala4527Ser) c.13558G>T (p.Ala4520Ser) c.13552G>T (p.Ala4518Ser) c.13546G>T (p.Ala4516Ser) c.13522G>T (p.Ala4508Ser) c.13345G>T (p.Ala4449Ser) c.13489G>T (p.Ala4497Ser) c.13561G>T (p.Ala4521Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237791480G>C | CA345417159 | RYR2 | c.*4620G>C (n.*4620G>C) c.13510G>C (p.Ala4504Pro) c.13549G>C (p.Ala4517Pro) c.5699G>C c.13528G>C (p.Ala4510Pro) c.3581G>C c.13477G>C (p.Ala4493Pro) c.13582G>C (p.Ala4528Pro) c.13579G>C (p.Ala4527Pro) c.13558G>C (p.Ala4520Pro) c.13552G>C (p.Ala4518Pro) c.13546G>C (p.Ala4516Pro) c.13522G>C (p.Ala4508Pro) c.13345G>C (p.Ala4449Pro) c.13489G>C (p.Ala4497Pro) c.13561G>C (p.Ala4521Pro) | ClinVar dbSNP |
| 1 | g.237791480G= | CA1144229307 | RYR2 | c.*4620G= (n.*4620G=) c.13510G= (p.Ala4504=) c.13549G= (p.Ala4517=) c.5699G= c.13528G= (p.Ala4510=) c.3581G= c.13477G= (p.Ala4493=) c.13582G= (p.Ala4528=) c.13579G= (p.Ala4527=) c.13558G= (p.Ala4520=) c.13552G= (p.Ala4518=) c.13546G= (p.Ala4516=) c.13522G= (p.Ala4508=) c.13345G= (p.Ala4449=) c.13489G= (p.Ala4497=) c.13561G= (p.Ala4521=) | dbSNP |