Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11113620G>CCA10585454LDLRc.1702G>C (p.Asp568His)
c.1444G>C (p.Asp482His)
c.1324G>C (p.Asp442His)
c.1698G>C
c.940G>C (p.Asp314His)
c.1321G>C (p.Asp441His)
c.1063G>C (p.Asp355His)
c.165G>C
c.924G>C
n.1594G>C
n.1561G>C
ClinVar dbSNP gnomAD v4
19g.11113620G>TCA10585455LDLRc.1702G>T (p.Asp568Tyr)
c.1444G>T (p.Asp482Tyr)
c.1324G>T (p.Asp442Tyr)
c.1698G>T
c.940G>T (p.Asp314Tyr)
c.1321G>T (p.Asp441Tyr)
c.1063G>T (p.Asp355Tyr)
c.165G>T
c.924G>T
n.1594G>T
n.1561G>T
ClinVar dbSNP
19g.11113620G>ACA023502LDLRc.1702G>A (p.Asp568Asn)
c.1444G>A (p.Asp482Asn)
c.1324G>A (p.Asp442Asn)
c.1698G>A
c.940G>A (p.Asp314Asn)
c.1321G>A (p.Asp441Asn)
c.1063G>A (p.Asp355Asn)
c.165G>A
c.924G>A
n.1594G>A
n.1561G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched