Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11100320C>T | CA305295263 | LDLR | c.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 |
19 | g.11100320C>G | CA042034 | LDLR | c.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 |