| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.236897020G>T | CA257200 | MTR | c.3613G>T (p.Glu1205Ter) n.4343G>T c.3460G>T (p.Glu1154Ter) c.*2655G>T (n.*2655G>T) c.*2357G>T (n.*2357G>T) c.3265G>T (p.Glu1089Ter) n.6740G>T c.3424G>T (p.Glu1142Ter) n.6870G>T c.3433G>T (p.Glu1145Ter) c.3175G>T (p.Glu1059Ter) n.3807G>T c.2275G>T (p.Glu759Ter) n.1225G>T c.2392G>T (p.Glu798Ter) c.3610G>T (p.Glu1204Ter) c.2677G>T (p.Glu893Ter) c.3781G>T (p.Glu1261Ter) c.3628G>T (p.Glu1210Ter) c.3592G>T (p.Glu1198Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.236897020G= | CA1141581448 | MTR | c.3613G= (p.Glu1205=) n.4343G= c.3460G= (p.Glu1154=) c.*2655G= (n.*2655G=) c.*2357G= (n.*2357G=) c.3265G= (p.Glu1089=) n.6740G= c.3424G= (p.Glu1142=) n.6870G= c.3433G= (p.Glu1145=) c.3175G= (p.Glu1059=) n.3807G= c.2275G= (p.Glu759=) n.1225G= c.2392G= (p.Glu798=) c.3610G= (p.Glu1204=) c.2677G= (p.Glu893=) c.3781G= (p.Glu1261=) c.3628G= (p.Glu1210=) c.3592G= (p.Glu1198=) | dbSNP |