Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11100292G>CCA023468LDLRc.395G>C (p.Cys132Ser)
c.137G>C (p.Cys46Ser)
c.391G>C
n.223G>C
n.287G>C
n.254G>C
ClinVar dbSNP
19g.11100292G>ACA10584765LDLRc.395G>A (p.Cys132Tyr)
c.137G>A (p.Cys46Tyr)
c.391G>A
n.223G>A
n.287G>A
n.254G>A
ClinVar dbSNP

Number of alleles fetched