Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11113620G>C | CA10585454 | LDLR | c.1702G>C (p.Asp568His) c.1444G>C (p.Asp482His) c.1324G>C (p.Asp442His) c.1698G>C c.940G>C (p.Asp314His) c.1321G>C (p.Asp441His) c.1063G>C (p.Asp355His) c.165G>C c.924G>C n.1594G>C n.1561G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11113620G>T | CA10585455 | LDLR | c.1702G>T (p.Asp568Tyr) c.1444G>T (p.Asp482Tyr) c.1324G>T (p.Asp442Tyr) c.1698G>T c.940G>T (p.Asp314Tyr) c.1321G>T (p.Asp441Tyr) c.1063G>T (p.Asp355Tyr) c.165G>T c.924G>T n.1594G>T n.1561G>T | ClinVar dbSNP |
19 | g.11113620G>A | CA023502 | LDLR | c.1702G>A (p.Asp568Asn) c.1444G>A (p.Asp482Asn) c.1324G>A (p.Asp442Asn) c.1698G>A c.940G>A (p.Asp314Asn) c.1321G>A (p.Asp441Asn) c.1063G>A (p.Asp355Asn) c.165G>A c.924G>A n.1594G>A n.1561G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |