Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11110692C>TCA505485338LDLRc.1239C>T (p.His413=)
c.981C>T (p.His327=)
c.941-822C>T (n.941-822C>T)
c.1235C>T
c.477C>T (p.His159=)
c.858C>T (p.His286=)
c.600C>T (p.His200=)
c.541-822C>T
n.1131C>T
n.1098C>T
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.11110692C>ACA16609808LDLRc.1239C>A (p.His413Gln)
c.981C>A (p.His327Gln)
c.941-822C>A (n.941-822C>A)
c.1235C>A
c.477C>A (p.His159Gln)
c.858C>A (p.His286Gln)
c.600C>A (p.His200Gln)
c.541-822C>A
n.1131C>A
n.1098C>A
ClinVar dbSNP gnomAD v4

Number of alleles fetched