Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11116168C>ACA10585550LDLRc.1919C>A (p.Ser640Ter)
c.1661C>A (p.Ser554Ter)
c.1541C>A (p.Ser514Ter)
c.1915C>A
c.1157C>A (p.Ser386Ter)
c.1538C>A (p.Ser513Ter)
c.1280C>A (p.Ser427Ter)
c.382C>A
n.1811C>A
n.1778C>A
ClinVar dbSNP
19g.11116168C>TCA10585551LDLRc.1919C>T (p.Ser640Leu)
c.1661C>T (p.Ser554Leu)
c.1541C>T (p.Ser514Leu)
c.1915C>T
c.1157C>T (p.Ser386Leu)
c.1538C>T (p.Ser513Leu)
c.1280C>T (p.Ser427Leu)
c.382C>T
n.1811C>T
n.1778C>T
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched