Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11105470C>GCA023723LDLRc.822C>G (p.Tyr274Ter)
c.564C>G (p.Tyr188Ter)
c.818C>G
c.314-1922C>G (n.314-1922C>G)
c.441C>G (p.Tyr147Ter)
c.314-1095C>G (n.314-1095C>G)
c.164C>G
n.714C>G
n.681C>G
ClinVar dbSNP gnomAD v4
19g.11105470C>ACA10584990LDLRc.822C>A (p.Tyr274Ter)
c.564C>A (p.Tyr188Ter)
c.818C>A
c.314-1922C>A (n.314-1922C>A)
c.441C>A (p.Tyr147Ter)
c.314-1095C>A (n.314-1095C>A)
c.164C>A
n.714C>A
n.681C>A
ClinVar dbSNP
19g.11105470C>TCA043947LDLRc.822C>T (p.Tyr274=)
c.564C>T (p.Tyr188=)
c.818C>T
c.314-1922C>T (n.314-1922C>T)
c.441C>T (p.Tyr147=)
c.314-1095C>T (n.314-1095C>T)
c.164C>T
n.714C>T
n.681C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched