| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21845641A>G | CA260091 | ABCC9 | c.3058T>C (p.Ser1020Pro) n.635T>C c.*2156T>C (n.*2156T>C) n.2559T>C c.3007T>C (p.Ser1003Pro) c.1939T>C (p.Ser647Pro) c.3019T>C (p.Ser1007Pro) c.2917T>C (p.Ser973Pro) c.2191T>C (p.Ser731Pro) | ClinVar dbSNP |
| 12 | g.21845641A= | CA2021315441 | ABCC9 | c.3058T= (p.Ser1020=) n.635T= c.*2156T= (n.*2156T=) n.2559T= c.3007T= (p.Ser1003=) c.1939T= (p.Ser647=) c.3019T= (p.Ser1007=) c.2917T= (p.Ser973=) c.2191T= (p.Ser731=) | dbSNP |