Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47333238C>TCA079267MYBPC3c.3286G>A (p.Glu1096Lys)
c.3268G>A (p.Glu1090Lys)
c.3205G>A (p.Glu1069Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333238C>ACA013793MYBPC3c.3286G>T (p.Glu1096Ter)
c.3268G>T (p.Glu1090Ter)
c.3205G>T (p.Glu1069Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched