Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11100293C>TCA041898LDLRc.396C>T (p.Cys132=)
c.138C>T (p.Cys46=)
c.392C>T
n.224C>T
n.288C>T
n.255C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11100293C>ACA10584766LDLRc.396C>A (p.Cys132Ter)
c.138C>A (p.Cys46Ter)
c.392C>A
n.224C>A
n.288C>A
n.255C>A
ClinVar dbSNP

Number of alleles fetched