| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38585948C>G | CA024260 | RYR1 | c.1750C>G c.3147C>G c.3119C>G n.207C>G c.14814C>G (p.Ile4938Met) c.14799C>G (p.Ile4933Met) c.14796C>G (p.Ile4932Met) c.14781C>G (p.Ile4927Met) c.14811C>G (p.Ile4937Met) c.14727C>G (p.Ile4909Met) | ClinVar dbSNP |
| 19 | g.38585948C>T | CA061686 | RYR1 | c.1750C>T c.3147C>T c.3119C>T n.207C>T c.14814C>T (p.Ile4938=) c.14799C>T (p.Ile4933=) c.14796C>T (p.Ile4932=) c.14781C>T (p.Ile4927=) c.14811C>T (p.Ile4937=) c.14727C>T (p.Ile4909=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38585948C= | CA2335095492 | RYR1 | c.1750C= c.3147C= c.3119C= n.207C= c.14814C= (p.Ile4938=) c.14799C= (p.Ile4933=) c.14796C= (p.Ile4932=) c.14781C= (p.Ile4927=) c.14811C= (p.Ile4937=) c.14727C= (p.Ile4909=) | dbSNP |
| 19 | g.38585948C>A | CA507246582 | RYR1 | c.1750C>A c.3147C>A c.3119C>A n.207C>A c.14814C>A (p.Ile4938=) c.14799C>A (p.Ile4933=) c.14796C>A (p.Ile4932=) c.14781C>A (p.Ile4927=) c.14811C>A (p.Ile4937=) c.14727C>A (p.Ile4909=) | dbSNP |