| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162352383T>G | CA1935034 | GCA | c.238T>G (p.Ser80Ala) c.181T>G (p.Ser61Ala) c.316T>G (p.Ser106Ala) n.669T>G n.305T>G n.353T>G n.328T>G c.283T>G (p.Ser95Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.162352383T>C | CA348992994 | GCA | c.238T>C (p.Ser80Pro) c.181T>C (p.Ser61Pro) c.316T>C (p.Ser106Pro) n.669T>C n.305T>C n.353T>C n.328T>C c.283T>C (p.Ser95Pro) | dbSNP gnomAD v4 |
| 2 | g.162352383T= | CA1303182284 | GCA | c.238T= (p.Ser80=) c.181T= (p.Ser61=) c.316T= (p.Ser106=) n.669T= n.305T= n.353T= n.328T= c.283T= (p.Ser95=) | dbSNP |