Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11113750A>T | CA10585507 | LDLR | c.1832A>T (p.Asp611Val) c.1574A>T (p.Asp525Val) c.1454A>T (p.Asp485Val) c.1828A>T c.1070A>T (p.Asp357Val) c.1451A>T (p.Asp484Val) c.1193A>T (p.Asp398Val) c.295A>T n.1724A>T n.1691A>T | ClinVar dbSNP gnomAD v4 |
19 | g.11113750A>C | CA404086605 | LDLR | c.1832A>C (p.Asp611Ala) c.1574A>C (p.Asp525Ala) c.1454A>C (p.Asp485Ala) c.1828A>C c.1070A>C (p.Asp357Ala) c.1451A>C (p.Asp484Ala) c.1193A>C (p.Asp398Ala) c.295A>C n.1724A>C n.1691A>C | ClinVar dbSNP |