| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38460380G>A | CA024349 | RYR1 | c.2366G>A (p.Arg789Gln) c.2363G>A (p.Arg788Gln) n.2449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38460380G>C | CA405628475 | RYR1 | c.2366G>C (p.Arg789Pro) c.2363G>C (p.Arg788Pro) n.2449G>C | dbSNP gnomAD v4 |
| 19 | g.38460380G>T | CA405628471 | RYR1 | c.2366G>T (p.Arg789Leu) c.2363G>T (p.Arg788Leu) n.2449G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38460380G= | CA2335033715 | RYR1 | c.2366G= (p.Arg789=) c.2363G= (p.Arg788=) n.2449G= | dbSNP |