Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11100320C>TCA305295263LDLRc.423C>T (p.Gly141=)
c.165C>T (p.Gly55=)
c.419C>T
n.251C>T
n.315C>T
n.282C>T
dbSNP gnomAD v2 gnomAD v4
19g.11100320C>GCA042034LDLRc.423C>G (p.Gly141=)
c.165C>G (p.Gly55=)
c.419C>G
n.251C>G
n.315C>G
n.282C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched