| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.18539442C>A | CA5430134 | CACNB2,NSUN6 | c.1557C>A (p.Tyr519Ter) c.1422C>A (p.Tyr474Ter) c.1545C>A (p.Tyr515Ter) c.1617C>A (p.Tyr539Ter) c.1701C>A (p.Tyr567Ter) c.1539C>A (p.Tyr513Ter) c.1326C>A (p.Tyr442Ter) c.1503C>A (p.Tyr501Ter) c.*842C>A (n.*842C>A) c.1443C>A (p.Tyr481Ter) c.*975C>A (n.*975C>A) c.1258C>A (n.1258C>A) c.*940C>A (n.*940C>A) c.1521C>A (p.Tyr507Ter) c.*801C>A (n.*801C>A) c.1629C>A (p.Tyr543Ter) c.951C>A (p.Tyr317Ter) c.1536C>A (p.Tyr512Ter) c.1405C>A (n.1405C>A) c.213C>A (p.Tyr71Ter) c.786C>A (p.Tyr262Ter) c.1464C>A (p.Tyr488Ter) c.1587C>A (p.Tyr529Ter) c.861C>A (p.Tyr287Ter) c.1467C>A (p.Tyr489Ter) n.2423+2627G>T n.1826C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539442C>T | CA5430133 | CACNB2,NSUN6 | c.1557C>T (p.Tyr519=) c.1422C>T (p.Tyr474=) c.1545C>T (p.Tyr515=) c.1617C>T (p.Tyr539=) c.1701C>T (p.Tyr567=) c.1539C>T (p.Tyr513=) c.1326C>T (p.Tyr442=) c.1503C>T (p.Tyr501=) c.*842C>T (n.*842C>T) c.1443C>T (p.Tyr481=) c.*975C>T (n.*975C>T) c.1258C>T (n.1258C>T) c.*940C>T (n.*940C>T) c.1521C>T (p.Tyr507=) c.*801C>T (n.*801C>T) c.1629C>T (p.Tyr543=) c.951C>T (p.Tyr317=) c.1536C>T (p.Tyr512=) c.1405C>T (n.1405C>T) c.213C>T (p.Tyr71=) c.786C>T (p.Tyr262=) c.1464C>T (p.Tyr488=) c.1587C>T (p.Tyr529=) c.861C>T (p.Tyr287=) c.1467C>T (p.Tyr489=) n.2423+2627G>A n.1826C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539442C>G | CA376071807 | CACNB2,NSUN6 | c.1557C>G (p.Tyr519Ter) c.1422C>G (p.Tyr474Ter) c.1545C>G (p.Tyr515Ter) c.1617C>G (p.Tyr539Ter) c.1701C>G (p.Tyr567Ter) c.1539C>G (p.Tyr513Ter) c.1326C>G (p.Tyr442Ter) c.1503C>G (p.Tyr501Ter) c.*842C>G (n.*842C>G) c.1443C>G (p.Tyr481Ter) c.*975C>G (n.*975C>G) c.1258C>G (n.1258C>G) c.*940C>G (n.*940C>G) c.1521C>G (p.Tyr507Ter) c.*801C>G (n.*801C>G) c.1629C>G (p.Tyr543Ter) c.951C>G (p.Tyr317Ter) c.1536C>G (p.Tyr512Ter) c.1405C>G (n.1405C>G) c.213C>G (p.Tyr71Ter) c.786C>G (p.Tyr262Ter) c.1464C>G (p.Tyr488Ter) c.1587C>G (p.Tyr529Ter) c.861C>G (p.Tyr287Ter) c.1467C>G (p.Tyr489Ter) n.2423+2627G>C n.1826C>G | ClinVar dbSNP gnomAD v4 |