Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38585879C>ACA352142088SCN5Ac.2599G>T (p.Glu867Ter)
c.2470G>T (p.Glu824Ter)
dbSNP
3g.38585879C>GCA016307SCN5Ac.2599G>C (p.Glu867Gln)
c.2470G>C (p.Glu824Gln)
ClinVar dbSNP
3g.38585879C>TCA352142091SCN5Ac.2599G>A (p.Glu867Lys)
c.2470G>A (p.Glu824Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched