Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11120424G>C | CA10585742 | LDLR | c.2300G>C (p.Cys767Ser) c.*111G>C (n.*111G>C) c.1922G>C (p.Cys641Ser) c.2042G>C (p.Cys681Ser) c.2296G>C c.1538G>C (p.Cys513Ser) c.1919G>C (p.Cys640Ser) c.1606+191G>C (n.1606+191G>C) c.1661G>C (p.Cys554Ser) n.2052G>C n.2159G>C n.2019G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11120424G>A | CA10585741 | LDLR | c.2300G>A (p.Cys767Tyr) c.*111G>A (n.*111G>A) c.1922G>A (p.Cys641Tyr) c.2042G>A (p.Cys681Tyr) c.2296G>A c.1538G>A (p.Cys513Tyr) c.1919G>A (p.Cys640Tyr) c.1606+191G>A (n.1606+191G>A) c.1661G>A (p.Cys554Tyr) n.2052G>A n.2159G>A n.2019G>A | ClinVar dbSNP gnomAD v4 |