| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11107439T>G | CA404080780 | LDLR | c.1123T>G (p.Cys375Gly) c.865T>G (p.Cys289Gly) c.1119T>G c.361T>G (p.Cys121Gly) c.742T>G (p.Cys248Gly) c.484T>G (p.Cys162Gly) n.380T>G c.465T>G n.1015T>G n.982T>G | ClinVar dbSNP |
| 19 | g.11107439T>C | CA10585164 | LDLR | c.1123T>C (p.Cys375Arg) c.865T>C (p.Cys289Arg) c.1119T>C c.361T>C (p.Cys121Arg) c.742T>C (p.Cys248Arg) c.484T>C (p.Cys162Arg) n.380T>C c.465T>C n.1015T>C n.982T>C | ClinVar dbSNP |
| 19 | g.11107439T= | CA2322768597 | LDLR | c.1123T= (p.Cys375=) c.865T= (p.Cys289=) c.1119T= c.361T= (p.Cys121=) c.742T= (p.Cys248=) c.484T= (p.Cys162=) n.380T= c.465T= n.1015T= n.982T= | dbSNP dbSNP |