| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580090C>T | CA024150 | RYR1 | c.1409C>T c.2806C>T c.2778C>T c.14473C>T (p.Arg4825Cys) c.14458C>T (p.Arg4820Cys) c.14455C>T (p.Arg4819Cys) c.14440C>T (p.Arg4814Cys) c.14470C>T (p.Arg4824Cys) c.14386C>T (p.Arg4796Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580090C>A | CA061313 | RYR1 | c.1409C>A c.2806C>A c.2778C>A c.14473C>A (p.Arg4825Ser) c.14458C>A (p.Arg4820Ser) c.14455C>A (p.Arg4819Ser) c.14440C>A (p.Arg4814Ser) c.14470C>A (p.Arg4824Ser) c.14386C>A (p.Arg4796Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580090C= | CA2335092295 | RYR1 | c.1409C= c.2806C= c.2778C= c.14473C= (p.Arg4825=) c.14458C= (p.Arg4820=) c.14455C= (p.Arg4819=) c.14440C= (p.Arg4814=) c.14470C= (p.Arg4824=) c.14386C= (p.Arg4796=) | dbSNP |