Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11105425C>TCA043809LDLRc.519C>T (p.Cys173=)
n.773C>T
c.314-1967C>T (p.=)
c.396C>T (p.Cys132=)
c.314-1140C>T (p.=)
n.119C>T
n.669C>T
n.636C>T
dbSNP ExAC gnomAD
19g.11105425C>ACA10584967LDLRc.519C>A (p.Cys173Ter)
n.773C>A
c.314-1967C>A (p.=)
c.396C>A (p.Cys132Ter)
c.314-1140C>A (p.=)
n.119C>A
n.669C>A
n.636C>A
ClinVar dbSNP
19g.11105425C>GCA10584968LDLRc.519C>G (p.Cys173Trp)
n.773C>G
c.314-1967C>G (p.=)
c.396C>G (p.Cys132Trp)
c.314-1140C>G (p.=)
n.119C>G
n.669C>G
n.636C>G
ClinVar dbSNP gnomAD

Number of alleles fetched