Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38561329G>ACA080694RYR1c.909G>A
c.891G>A
c.12499G>A (p.Glu4167Lys)
c.12484G>A (p.Glu4162Lys)
c.12481G>A (p.Glu4161Lys)
c.5868G>A
c.12466G>A (p.Glu4156Lys)
c.12496G>A (p.Glu4166Lys)
ClinVar dbSNP gnomAD v4
19g.38561329G>TCA023986RYR1c.909G>T
c.891G>T
c.12499G>T (p.Glu4167Ter)
c.12484G>T (p.Glu4162Ter)
c.12481G>T (p.Glu4161Ter)
c.5868G>T
c.12466G>T (p.Glu4156Ter)
c.12496G>T (p.Glu4166Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38561329G>CCA405669323RYR1c.909G>C
c.891G>C
c.12499G>C (p.Glu4167Gln)
c.12484G>C (p.Glu4162Gln)
c.12481G>C (p.Glu4161Gln)
c.5868G>C
c.12466G>C (p.Glu4156Gln)
c.12496G>C (p.Glu4166Gln)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched