Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11105441G>TCA10584980LDLRc.793G>T (p.Glu265Ter)
c.535G>T (p.Glu179Ter)
c.789G>T
c.314-1951G>T (n.314-1951G>T)
c.412G>T (p.Glu138Ter)
c.314-1124G>T (n.314-1124G>T)
c.135G>T
n.685G>T
n.652G>T
ClinVar dbSNP gnomAD v4
19g.11105441G>ACA10584979LDLRc.793G>A (p.Glu265Lys)
c.535G>A (p.Glu179Lys)
c.789G>A
c.314-1951G>A (n.314-1951G>A)
c.412G>A (p.Glu138Lys)
c.314-1124G>A (n.314-1124G>A)
c.135G>A
n.685G>A
n.652G>A
ClinVar dbSNP
19g.11105441G=CA2322767471LDLRc.793G= (p.Glu265=)
c.535G= (p.Glu179=)
c.789G=
c.314-1951G= (n.314-1951G=)
c.412G= (p.Glu138=)
c.314-1124G= (n.314-1124G=)
c.135G=
n.685G=
n.652G=
dbSNP

Number of alleles fetched