| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38585013C>G | CA024239 | RYR1 | c.1653C>G c.3050C>G c.3022C>G n.110C>G c.14717C>G (p.Ala4906Gly) c.14702C>G (p.Ala4901Gly) c.14699C>G (p.Ala4900Gly) c.14684C>G (p.Ala4895Gly) c.14714C>G (p.Ala4905Gly) c.14630C>G (p.Ala4877Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585013C>T | CA024241 | RYR1 | c.1653C>T c.3050C>T c.3022C>T n.110C>T c.14717C>T (p.Ala4906Val) c.14702C>T (p.Ala4901Val) c.14699C>T (p.Ala4900Val) c.14684C>T (p.Ala4895Val) c.14714C>T (p.Ala4905Val) c.14630C>T (p.Ala4877Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |