| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7745021C>T | CA10605283 | CAMTA1 | c.1102C>T (p.Arg368Ter) c.1441C>T (p.Arg481Ter) c.4030C>T (p.Arg1344Ter) c.1670C>T c.*3881C>T (n.*3881C>T) c.3940C>T (p.Arg1314Ter) c.3958C>T (p.Arg1320Ter) c.2293C>T (p.Arg765Ter) c.1441C>T (p.Arg481Cys) n.543C>T c.1102C>T (p.Arg368Cys) c.1694C>T n.2744C>T n.2028C>T c.59C>T c.4369C>T (p.Arg1457Ter) c.61C>T (p.Arg21Ter) c.108C>T c.1239C>T c.4357C>T (p.Arg1453Ter) c.4297C>T (p.Arg1433Ter) c.4279C>T (p.Arg1427Ter) c.1498C>T (p.Arg500Ter) c.1630C>T (p.Arg544Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.7745021C= | CA1152079838 | CAMTA1 | c.1102C= (p.Arg368=) c.1441C= (p.Arg481=) c.4030C= (p.Arg1344=) c.1670C= c.*3881C= (n.*3881C=) c.3940C= (p.Arg1314=) c.3958C= (p.Arg1320=) c.2293C= (p.Arg765=) n.543C= c.1694C= n.2744C= n.2028C= c.59C= c.4369C= (p.Arg1457=) c.61C= (p.Arg21=) c.108C= c.1239C= c.4357C= (p.Arg1453=) c.4297C= (p.Arg1433=) c.4279C= (p.Arg1427=) c.1498C= (p.Arg500=) c.1630C= (p.Arg544=) | dbSNP |