Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11120436C>TCA023628LDLRc.2312C>T (p.Pro771Leu)
c.*123C>T (n.*123C>T)
c.1934C>T (p.Pro645Leu)
c.2054C>T (p.Pro685Leu)
c.2308C>T
c.1550C>T (p.Pro517Leu)
c.1931C>T (p.Pro644Leu)
c.1606+203C>T (n.1606+203C>T)
c.1673C>T (p.Pro558Leu)
n.2064C>T
n.2171C>T
n.2031C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120436C>ACA404093679LDLRc.2312C>A (p.Pro771Gln)
c.*123C>A (n.*123C>A)
c.1934C>A (p.Pro645Gln)
c.2054C>A (p.Pro685Gln)
c.2308C>A
c.1550C>A (p.Pro517Gln)
c.1931C>A (p.Pro644Gln)
c.1606+203C>A (n.1606+203C>A)
c.1673C>A (p.Pro558Gln)
n.2064C>A
n.2171C>A
n.2031C>A
ClinVar dbSNP

Number of alleles fetched