| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38494565G>T | CA405664296 | RYR1 | c.6488G>T (p.Arg2163Leu) c.6485G>T (p.Arg2162Leu) n.6571G>T | ClinVar dbSNP |
| 19 | g.38494565G>A | CA024593 | RYR1 | c.6488G>A (p.Arg2163His) c.6485G>A (p.Arg2162His) n.6571G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38494565G>C | CA024596 | RYR1 | c.6488G>C (p.Arg2163Pro) c.6485G>C (p.Arg2162Pro) n.6571G>C | ClinVar dbSNP gnomAD v4 |