| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46024010G>A | CA257189 | MAPT | c.1078G>A (p.Gly360Arg) c.991G>A (p.Gly331Arg) c.1165G>A (p.Gly389Arg) n.391G>A n.349G>A n.583G>A c.2341G>A (p.Gly781Arg) c.2050G>A (p.Gly684Arg) c.985G>A (p.Gly329Arg) c.1114G>A (p.Gly372Arg) c.2116G>A (p.Gly706Arg) c.898G>A (p.Gly300Arg) c.2170G>A (p.Gly724Arg) c.1072G>A (p.Gly358Arg) n.6357G>A c.2428G>A (p.Gly810Arg) c.2335G>A (p.Gly779Arg) c.2254G>A (p.Gly752Arg) c.2230G>A (p.Gly744Arg) c.2137G>A (p.Gly713Arg) c.1363G>A (p.Gly455Arg) c.1276G>A (p.Gly426Arg) c.1189G>A (p.Gly397Arg) c.772-1107G>A (n.772-1107G>A) n.996G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.46024010G>C | CA225494 | MAPT | c.1078G>C (p.Gly360Arg) c.991G>C (p.Gly331Arg) c.1165G>C (p.Gly389Arg) n.391G>C n.349G>C n.583G>C c.2341G>C (p.Gly781Arg) c.2050G>C (p.Gly684Arg) c.985G>C (p.Gly329Arg) c.1114G>C (p.Gly372Arg) c.2116G>C (p.Gly706Arg) c.898G>C (p.Gly300Arg) c.2170G>C (p.Gly724Arg) c.1072G>C (p.Gly358Arg) n.6357G>C c.2428G>C (p.Gly810Arg) c.2335G>C (p.Gly779Arg) c.2254G>C (p.Gly752Arg) c.2230G>C (p.Gly744Arg) c.2137G>C (p.Gly713Arg) c.1363G>C (p.Gly455Arg) c.1276G>C (p.Gly426Arg) c.1189G>C (p.Gly397Arg) c.772-1107G>C (n.772-1107G>C) n.996G>C | ClinVar dbSNP |