| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11107498A>T | CA16602317 | LDLR | c.1182A>T (p.Glu394Asp) c.924A>T (p.Glu308Asp) c.1178A>T c.420A>T (p.Glu140Asp) c.801A>T (p.Glu267Asp) c.543A>T (p.Glu181Asp) n.439A>T c.524A>T n.1074A>T n.1041A>T | ClinVar dbSNP |
| 19 | g.11107498A>G | CA505485107 | LDLR | c.1182A>G (p.Glu394=) c.924A>G (p.Glu308=) c.1178A>G c.420A>G (p.Glu140=) c.801A>G (p.Glu267=) c.543A>G (p.Glu181=) n.439A>G c.524A>G n.1074A>G n.1041A>G | ClinVar dbSNP gnomAD v4 |