Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38580094C>T | CA024154 | RYR1 | c.1413C>T c.2810C>T c.2782C>T c.14477C>T (p.Thr4826Ile) c.14462C>T (p.Thr4821Ile) c.14459C>T (p.Thr4820Ile) c.14444C>T (p.Thr4815Ile) c.14474C>T (p.Thr4825Ile) c.14390C>T (p.Thr4797Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38580094C= | CA2335092299 | RYR1 | c.1413C= c.2810C= c.2782C= c.14477C= (p.Thr4826=) c.14462C= (p.Thr4821=) c.14459C= (p.Thr4820=) c.14444C= (p.Thr4815=) c.14474C= (p.Thr4825=) c.14390C= (p.Thr4797=) | dbSNP |