| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38519295A>T | CA405695144 | RYR1 | c.10039A>T (n.10039A>T) c.10100A>T (p.Lys3367Met) c.10097A>T (p.Lys3366Met) c.3502A>T c.907A>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38519295A>G | CA023815 | RYR1 | c.10039A>G (n.10039A>G) c.10100A>G (p.Lys3367Arg) c.10097A>G (p.Lys3366Arg) c.3502A>G c.907A>G | ClinVar dbSNP |