Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11107491C>ACA10585193LDLRc.1175C>A (p.Ser392Ter)
c.917C>A (p.Ser306Ter)
c.1171C>A
c.413C>A (p.Ser138Ter)
c.794C>A (p.Ser265Ter)
c.536C>A (p.Ser179Ter)
n.432C>A
c.517C>A
n.1067C>A
n.1034C>A
ClinVar dbSNP gnomAD v4
19g.11107491C>GCA10585194LDLRc.1175C>G (p.Ser392Ter)
c.917C>G (p.Ser306Ter)
c.1171C>G
c.413C>G (p.Ser138Ter)
c.794C>G (p.Ser265Ter)
c.536C>G (p.Ser179Ter)
n.432C>G
c.517C>G
n.1067C>G
n.1034C>G
ClinVar dbSNP

Number of alleles fetched