Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11105231T>CCA10584855LDLRc.583T>C (p.Cys195Arg)
c.325T>C (p.Cys109Arg)
c.579T>C
c.314-2161T>C (n.314-2161T>C)
c.202T>C (p.Cys68Arg)
c.314-1334T>C (n.314-1334T>C)
n.475T>C
n.442T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105231T>GCA404076225LDLRc.583T>G (p.Cys195Gly)
c.325T>G (p.Cys109Gly)
c.579T>G
c.314-2161T>G (n.314-2161T>G)
c.202T>G (p.Cys68Gly)
c.314-1334T>G (n.314-1334T>G)
n.475T>G
n.442T>G
ClinVar dbSNP

Number of alleles fetched