| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38584973C>T | CA024220 | RYR1 | c.1613C>T c.3010C>T c.2982C>T n.70C>T c.14677C>T (p.Arg4893Trp) c.14662C>T (p.Arg4888Trp) c.14659C>T (p.Arg4887Trp) c.14644C>T (p.Arg4882Trp) c.14674C>T (p.Arg4892Trp) c.14590C>T (p.Arg4864Trp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38584973C>G | CA308125459 | RYR1 | c.1613C>G c.3010C>G c.2982C>G n.70C>G c.14677C>G (p.Arg4893Gly) c.14662C>G (p.Arg4888Gly) c.14659C>G (p.Arg4887Gly) c.14644C>G (p.Arg4882Gly) c.14674C>G (p.Arg4892Gly) c.14590C>G (p.Arg4864Gly) | dbSNP |
| 19 | g.38584973C= | CA2335094938 | RYR1 | c.1613C= c.3010C= c.2982C= n.70C= c.14677C= (p.Arg4893=) c.14662C= (p.Arg4888=) c.14659C= (p.Arg4887=) c.14644C= (p.Arg4882=) c.14674C= (p.Arg4892=) c.14590C= (p.Arg4864=) | dbSNP |