| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113406A>T | CA16602328 | LDLR | c.1573A>T (p.Asn525Tyr) c.1315A>T (p.Asn439Tyr) c.1195A>T (p.Asn399Tyr) c.1569A>T c.811A>T (p.Asn271Tyr) c.1192A>T (p.Asn398Tyr) c.934A>T (p.Asn312Tyr) c.36A>T n.314A>T c.795A>T n.1465A>T n.1432A>T | ClinVar dbSNP |
| 19 | g.11113406A>G | CA404085143 | LDLR | c.1573A>G (p.Asn525Asp) c.1315A>G (p.Asn439Asp) c.1195A>G (p.Asn399Asp) c.1569A>G c.811A>G (p.Asn271Asp) c.1192A>G (p.Asn398Asp) c.934A>G (p.Asn312Asp) c.36A>G n.314A>G c.795A>G n.1465A>G n.1432A>G | ClinVar dbSNP |
| 19 | g.11113406A= | CA2322771783 | LDLR | c.1573A= (p.Asn525=) c.1315A= (p.Asn439=) c.1195A= (p.Asn399=) c.1569A= c.811A= (p.Asn271=) c.1192A= (p.Asn398=) c.934A= (p.Asn312=) c.36A= n.314A= c.795A= n.1465A= n.1432A= | dbSNP |