| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11129606A>C | CA10576335 | LDLR | c.2741A>C (p.Tyr914Ser) c.*552A>C (n.*552A>C) c.2363A>C (p.Tyr788Ser) c.2483A>C (p.Tyr828Ser) c.2737A>C c.1979A>C (p.Tyr660Ser) c.2360A>C (p.Tyr787Ser) c.1949A>C (p.Tyr650Ser) c.2545A>C (p.Ile849Leu) n.108+1952A>C c.2405A>C (p.Tyr802Ser) c.2102A>C (p.Tyr701Ser) n.2817A>C n.2460A>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11129606A>G | CA023679 | LDLR | c.2741A>G (p.Tyr914Cys) c.*552A>G (n.*552A>G) c.2363A>G (p.Tyr788Cys) c.2483A>G (p.Tyr828Cys) c.2737A>G c.1979A>G (p.Tyr660Cys) c.2360A>G (p.Tyr787Cys) c.1949A>G (p.Tyr650Cys) c.2545A>G (p.Ile849Val) n.108+1952A>G c.2405A>G (p.Tyr802Cys) c.2102A>G (p.Tyr701Cys) n.2817A>G n.2460A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11129606A= | CA2322780302 | LDLR | c.2741A= (p.Tyr914=) c.*552A= (n.*552A=) c.2363A= (p.Tyr788=) c.2483A= (p.Tyr828=) c.2737A= c.1979A= (p.Tyr660=) c.2360A= (p.Tyr787=) c.1949A= (p.Tyr650=) c.2545A= (p.Ile849=) n.108+1952A= c.2405A= (p.Tyr802=) c.2102A= (p.Tyr701=) n.2817A= n.2460A= | dbSNP |