Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38580094C>TCA024154RYR1c.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
19g.38580094C=CA2335092299RYR1c.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

Number of alleles fetched