| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.45996657G>T | CA225421 | MAPT | c.728G>T (p.Gly243Val) c.641G>T (p.Gly214Val) c.815G>T (p.Gly272Val) n.679G>T n.47G>T c.1991G>T (p.Gly664Val) c.1793G>T (p.Gly598Val) c.1766G>T (p.Gly589Val) c.1820G>T (p.Gly607Val) n.769G>T n.6100G>T c.2078G>T (p.Gly693Val) c.1904G>T (p.Gly635Val) c.1880G>T (p.Gly627Val) c.1013G>T (p.Gly338Val) c.926G>T (p.Gly309Val) c.839G>T (p.Gly280Val) n.739G>T | ClinVar dbSNP |
| 17 | g.45996657G= | CA2262095049 | MAPT | c.728G= (p.Gly243=) c.641G= (p.Gly214=) c.815G= (p.Gly272=) n.679G= n.47G= c.1991G= (p.Gly664=) c.1793G= (p.Gly598=) c.1766G= (p.Gly589=) c.1820G= (p.Gly607=) n.769G= n.6100G= c.2078G= (p.Gly693=) c.1904G= (p.Gly635=) c.1880G= (p.Gly627=) c.1013G= (p.Gly338=) c.926G= (p.Gly309=) c.839G= (p.Gly280=) n.739G= | dbSNP |