Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11116108C>GCA404088637LDLRc.1859C>G (p.Thr620Ser)
c.1601C>G (p.Thr534Ser)
c.1481C>G (p.Thr494Ser)
c.1855C>G
c.1097C>G (p.Thr366Ser)
c.1478C>G (p.Thr493Ser)
c.1220C>G (p.Thr407Ser)
c.322C>G
n.1751C>G
n.1718C>G
dbSNP
19g.11116108C>ACA10585522LDLRc.1859C>A (p.Thr620Asn)
c.1601C>A (p.Thr534Asn)
c.1481C>A (p.Thr494Asn)
c.1855C>A
c.1097C>A (p.Thr366Asn)
c.1478C>A (p.Thr493Asn)
c.1220C>A (p.Thr407Asn)
c.322C>A
n.1751C>A
n.1718C>A
ClinVar dbSNP gnomAD v4

Number of alleles fetched