| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.45996638C>G | CA225417 | MAPT | c.709C>G (p.Leu237Val) c.622C>G (p.Leu208Val) c.796C>G (p.Leu266Val) n.660C>G n.28C>G c.1972C>G (p.Leu658Val) c.1774C>G (p.Leu592Val) c.1747C>G (p.Leu583Val) c.1801C>G (p.Leu601Val) n.750C>G n.6081C>G c.2059C>G (p.Leu687Val) c.1885C>G (p.Leu629Val) c.1861C>G (p.Leu621Val) c.994C>G (p.Leu332Val) c.907C>G (p.Leu303Val) c.820C>G (p.Leu274Val) n.720C>G | ClinVar dbSNP |
| 17 | g.45996638C>T | CA8618064 | MAPT | c.709C>T (p.Leu237=) c.622C>T (p.Leu208=) c.796C>T (p.Leu266=) n.660C>T n.28C>T c.1972C>T (p.Leu658=) c.1774C>T (p.Leu592=) c.1747C>T (p.Leu583=) c.1801C>T (p.Leu601=) n.750C>T n.6081C>T c.2059C>T (p.Leu687=) c.1885C>T (p.Leu629=) c.1861C>T (p.Leu621=) c.994C>T (p.Leu332=) c.907C>T (p.Leu303=) c.820C>T (p.Leu274=) n.720C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |