Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11105516T>CCA404077804LDLRc.868T>C (p.Cys290Arg)
c.610T>C (p.Cys204Arg)
c.864T>C
c.314-1876T>C (n.314-1876T>C)
c.487T>C (p.Cys163Arg)
c.314-1049T>C (n.314-1049T>C)
c.210T>C
n.760T>C
n.727T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105516T>GCA16602302LDLRc.868T>G (p.Cys290Gly)
c.610T>G (p.Cys204Gly)
c.864T>G
c.314-1876T>G (n.314-1876T>G)
c.487T>G (p.Cys163Gly)
c.314-1049T>G (n.314-1049T>G)
c.210T>G
n.760T>G
n.727T>G
ClinVar dbSNP

Number of alleles fetched