| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46024061C>T | CA225495 | MAPT | c.1129C>T (p.Arg377Trp) c.1042C>T (p.Arg348Trp) c.1216C>T (p.Arg406Trp) n.442C>T n.400C>T n.634C>T c.2392C>T (p.Arg798Trp) c.2101C>T (p.Arg701Trp) c.1036C>T (p.Arg346Trp) c.1165C>T (p.Arg389Trp) c.2167C>T (p.Arg723Trp) c.949C>T (p.Arg317Trp) c.2221C>T (p.Arg741Trp) c.1123C>T (p.Arg375Trp) n.6408C>T c.2479C>T (p.Arg827Trp) c.2386C>T (p.Arg796Trp) c.2305C>T (p.Arg769Trp) c.2281C>T (p.Arg761Trp) c.2188C>T (p.Arg730Trp) c.1414C>T (p.Arg472Trp) c.1327C>T (p.Arg443Trp) c.1240C>T (p.Arg414Trp) c.772-1056C>T (n.772-1056C>T) n.1047C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.46024061C= | CA2262106937 | MAPT | c.1129C= (p.Arg377=) c.1042C= (p.Arg348=) c.1216C= (p.Arg406=) n.442C= n.400C= n.634C= c.2392C= (p.Arg798=) c.2101C= (p.Arg701=) c.1036C= (p.Arg346=) c.1165C= (p.Arg389=) c.2167C= (p.Arg723=) c.949C= (p.Arg317=) c.2221C= (p.Arg741=) c.1123C= (p.Arg375=) n.6408C= c.2479C= (p.Arg827=) c.2386C= (p.Arg796=) c.2305C= (p.Arg769=) c.2281C= (p.Arg761=) c.2188C= (p.Arg730=) c.1414C= (p.Arg472=) c.1327C= (p.Arg443=) c.1240C= (p.Arg414=) c.772-1056C= (n.772-1056C=) n.1047C= | dbSNP |