Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11120424G>CCA10585742LDLRc.2300G>C (p.Cys767Ser)
c.*111G>C (n.*111G>C)
c.1922G>C (p.Cys641Ser)
c.2042G>C (p.Cys681Ser)
c.2296G>C
c.1538G>C (p.Cys513Ser)
c.1919G>C (p.Cys640Ser)
c.1606+191G>C (n.1606+191G>C)
c.1661G>C (p.Cys554Ser)
n.2052G>C
n.2159G>C
n.2019G>C
ClinVar dbSNP gnomAD v4
19g.11120424G>ACA10585741LDLRc.2300G>A (p.Cys767Tyr)
c.*111G>A (n.*111G>A)
c.1922G>A (p.Cys641Tyr)
c.2042G>A (p.Cys681Tyr)
c.2296G>A
c.1538G>A (p.Cys513Tyr)
c.1919G>A (p.Cys640Tyr)
c.1606+191G>A (n.1606+191G>A)
c.1661G>A (p.Cys554Tyr)
n.2052G>A
n.2159G>A
n.2019G>A
ClinVar dbSNP gnomAD v4

Number of alleles fetched