Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.45996652G>A | CA225419 | MAPT | c.723G>A (p.Pro241=) c.636G>A (p.Pro212=) c.810G>A (p.Pro270=) n.674G>A n.42G>A c.1986G>A (p.Pro662=) c.1788G>A (p.Pro596=) c.1761G>A (p.Pro587=) c.1815G>A (p.Pro605=) n.764G>A n.6095G>A c.2073G>A (p.Pro691=) c.1899G>A (p.Pro633=) c.1875G>A (p.Pro625=) c.1008G>A (p.Pro336=) c.921G>A (p.Pro307=) c.834G>A (p.Pro278=) n.734G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996652G>C | CA500644070 | MAPT | c.723G>C (p.Pro241=) c.636G>C (p.Pro212=) c.810G>C (p.Pro270=) n.674G>C n.42G>C c.1986G>C (p.Pro662=) c.1788G>C (p.Pro596=) c.1761G>C (p.Pro587=) c.1815G>C (p.Pro605=) n.764G>C n.6095G>C c.2073G>C (p.Pro691=) c.1899G>C (p.Pro633=) c.1875G>C (p.Pro625=) c.1008G>C (p.Pro336=) c.921G>C (p.Pro307=) c.834G>C (p.Pro278=) n.734G>C | dbSNP |
17 | g.45996652G= | CA2262095047 | MAPT | c.723G= (p.Pro241=) c.636G= (p.Pro212=) c.810G= (p.Pro270=) n.674G= n.42G= c.1986G= (p.Pro662=) c.1788G= (p.Pro596=) c.1761G= (p.Pro587=) c.1815G= (p.Pro605=) n.764G= n.6095G= c.2073G= (p.Pro691=) c.1899G= (p.Pro633=) c.1875G= (p.Pro625=) c.1008G= (p.Pro336=) c.921G= (p.Pro307=) c.834G= (p.Pro278=) n.734G= | |
17 | g.45996652G>T | CA500644069 | MAPT | c.723G>T (p.Pro241=) c.636G>T (p.Pro212=) c.810G>T (p.Pro270=) n.674G>T n.42G>T c.1986G>T (p.Pro662=) c.1788G>T (p.Pro596=) c.1761G>T (p.Pro587=) c.1815G>T (p.Pro605=) n.764G>T n.6095G>T c.2073G>T (p.Pro691=) c.1899G>T (p.Pro633=) c.1875G>T (p.Pro625=) c.1008G>T (p.Pro336=) c.921G>T (p.Pro307=) c.834G>T (p.Pro278=) n.734G>T | |
17 | g.45996653G>A | CA399978457 | MAPT | c.724G>A (p.Gly242Arg) c.637G>A (p.Gly213Arg) c.811G>A (p.Gly271Arg) n.675G>A n.43G>A c.1987G>A (p.Gly663Arg) c.1789G>A (p.Gly597Arg) c.1762G>A (p.Gly588Arg) c.1816G>A (p.Gly606Arg) n.765G>A n.6096G>A c.2074G>A (p.Gly692Arg) c.1900G>A (p.Gly634Arg) c.1876G>A (p.Gly626Arg) c.1009G>A (p.Gly337Arg) c.922G>A (p.Gly308Arg) c.835G>A (p.Gly279Arg) n.735G>A | dbSNP |
17 | g.45996653G>C | CA399978458 | MAPT | c.724G>C (p.Gly242Arg) c.637G>C (p.Gly213Arg) c.811G>C (p.Gly271Arg) n.675G>C n.43G>C c.1987G>C (p.Gly663Arg) c.1789G>C (p.Gly597Arg) c.1762G>C (p.Gly588Arg) c.1816G>C (p.Gly606Arg) n.765G>C n.6096G>C c.2074G>C (p.Gly692Arg) c.1900G>C (p.Gly634Arg) c.1876G>C (p.Gly626Arg) c.1009G>C (p.Gly337Arg) c.922G>C (p.Gly308Arg) c.835G>C (p.Gly279Arg) n.735G>C | |
17 | g.45996653G= | CA2262095048 | MAPT | c.724G= (p.Gly242=) c.637G= (p.Gly213=) c.811G= (p.Gly271=) n.675G= n.43G= c.1987G= (p.Gly663=) c.1789G= (p.Gly597=) c.1762G= (p.Gly588=) c.1816G= (p.Gly606=) n.765G= n.6096G= c.2074G= (p.Gly692=) c.1900G= (p.Gly634=) c.1876G= (p.Gly626=) c.1009G= (p.Gly337=) c.922G= (p.Gly308=) c.835G= (p.Gly279=) n.735G= | |
17 | g.45996653G>T | CA399978459 | MAPT | c.724G>T (p.Gly242Ter) c.637G>T (p.Gly213Ter) c.811G>T (p.Gly271Ter) n.675G>T n.43G>T c.1987G>T (p.Gly663Ter) c.1789G>T (p.Gly597Ter) c.1762G>T (p.Gly588Ter) c.1816G>T (p.Gly606Ter) n.765G>T n.6096G>T c.2074G>T (p.Gly692Ter) c.1900G>T (p.Gly634Ter) c.1876G>T (p.Gly626Ter) c.1009G>T (p.Gly337Ter) c.922G>T (p.Gly308Ter) c.835G>T (p.Gly279Ter) n.735G>T | |
17 | g.45996654G>A | CA399978460 | MAPT | c.725G>A (p.Gly242Glu) c.638G>A (p.Gly213Glu) c.812G>A (p.Gly271Glu) n.676G>A n.44G>A c.1988G>A (p.Gly663Glu) c.1790G>A (p.Gly597Glu) c.1763G>A (p.Gly588Glu) c.1817G>A (p.Gly606Glu) n.766G>A n.6097G>A c.2075G>A (p.Gly692Glu) c.1901G>A (p.Gly634Glu) c.1877G>A (p.Gly626Glu) c.1010G>A (p.Gly337Glu) c.923G>A (p.Gly308Glu) c.836G>A (p.Gly279Glu) n.736G>A | |
17 | g.45996654G>C | CA399978461 | MAPT | c.725G>C (p.Gly242Ala) c.638G>C (p.Gly213Ala) c.812G>C (p.Gly271Ala) n.676G>C n.44G>C c.1988G>C (p.Gly663Ala) c.1790G>C (p.Gly597Ala) c.1763G>C (p.Gly588Ala) c.1817G>C (p.Gly606Ala) n.766G>C n.6097G>C c.2075G>C (p.Gly692Ala) c.1901G>C (p.Gly634Ala) c.1877G>C (p.Gly626Ala) c.1010G>C (p.Gly337Ala) c.923G>C (p.Gly308Ala) c.836G>C (p.Gly279Ala) n.736G>C | |
17 | g.45996654G>T | CA399978462 | MAPT | c.725G>T (p.Gly242Val) c.638G>T (p.Gly213Val) c.812G>T (p.Gly271Val) n.676G>T n.44G>T c.1988G>T (p.Gly663Val) c.1790G>T (p.Gly597Val) c.1763G>T (p.Gly588Val) c.1817G>T (p.Gly606Val) n.766G>T n.6097G>T c.2075G>T (p.Gly692Val) c.1901G>T (p.Gly634Val) c.1877G>T (p.Gly626Val) c.1010G>T (p.Gly337Val) c.923G>T (p.Gly308Val) c.836G>T (p.Gly279Val) n.736G>T | |
17 | g.45996655A>C | CA500644071 | MAPT | c.726A>C (p.Gly242=) c.639A>C (p.Gly213=) c.813A>C (p.Gly271=) n.677A>C n.45A>C c.1989A>C (p.Gly663=) c.1791A>C (p.Gly597=) c.1764A>C (p.Gly588=) c.1818A>C (p.Gly606=) n.767A>C n.6098A>C c.2076A>C (p.Gly692=) c.1902A>C (p.Gly634=) c.1878A>C (p.Gly626=) c.1011A>C (p.Gly337=) c.924A>C (p.Gly308=) c.837A>C (p.Gly279=) n.737A>C | |
17 | g.45996655A>G | CA500644072 | MAPT | c.726A>G (p.Gly242=) c.639A>G (p.Gly213=) c.813A>G (p.Gly271=) n.677A>G n.45A>G c.1989A>G (p.Gly663=) c.1791A>G (p.Gly597=) c.1764A>G (p.Gly588=) c.1818A>G (p.Gly606=) n.767A>G n.6098A>G c.2076A>G (p.Gly692=) c.1902A>G (p.Gly634=) c.1878A>G (p.Gly626=) c.1011A>G (p.Gly337=) c.924A>G (p.Gly308=) c.837A>G (p.Gly279=) n.737A>G | gnomAD v4 |
17 | g.45996655A>T | CA500644073 | MAPT | c.726A>T (p.Gly242=) c.639A>T (p.Gly213=) c.813A>T (p.Gly271=) n.677A>T n.45A>T c.1989A>T (p.Gly663=) c.1791A>T (p.Gly597=) c.1764A>T (p.Gly588=) c.1818A>T (p.Gly606=) n.767A>T n.6098A>T c.2076A>T (p.Gly692=) c.1902A>T (p.Gly634=) c.1878A>T (p.Gly626=) c.1011A>T (p.Gly337=) c.924A>T (p.Gly308=) c.837A>T (p.Gly279=) n.737A>T | |
17 | g.45996656G>A | CA399978463 | MAPT | c.727G>A (p.Gly243Ser) c.640G>A (p.Gly214Ser) c.814G>A (p.Gly272Ser) n.678G>A n.46G>A c.1990G>A (p.Gly664Ser) c.1792G>A (p.Gly598Ser) c.1765G>A (p.Gly589Ser) c.1819G>A (p.Gly607Ser) n.768G>A n.6099G>A c.2077G>A (p.Gly693Ser) c.1903G>A (p.Gly635Ser) c.1879G>A (p.Gly627Ser) c.1012G>A (p.Gly338Ser) c.925G>A (p.Gly309Ser) c.838G>A (p.Gly280Ser) n.738G>A | gnomAD v4 |
17 | g.45996656G>C | CA399978464 | MAPT | c.727G>C (p.Gly243Arg) c.640G>C (p.Gly214Arg) c.814G>C (p.Gly272Arg) n.678G>C n.46G>C c.1990G>C (p.Gly664Arg) c.1792G>C (p.Gly598Arg) c.1765G>C (p.Gly589Arg) c.1819G>C (p.Gly607Arg) n.768G>C n.6099G>C c.2077G>C (p.Gly693Arg) c.1903G>C (p.Gly635Arg) c.1879G>C (p.Gly627Arg) c.1012G>C (p.Gly338Arg) c.925G>C (p.Gly309Arg) c.838G>C (p.Gly280Arg) n.738G>C | |
17 | g.45996656G>T | CA399978465 | MAPT | c.727G>T (p.Gly243Cys) c.640G>T (p.Gly214Cys) c.814G>T (p.Gly272Cys) n.678G>T n.46G>T c.1990G>T (p.Gly664Cys) c.1792G>T (p.Gly598Cys) c.1765G>T (p.Gly589Cys) c.1819G>T (p.Gly607Cys) n.768G>T n.6099G>T c.2077G>T (p.Gly693Cys) c.1903G>T (p.Gly635Cys) c.1879G>T (p.Gly627Cys) c.1012G>T (p.Gly338Cys) c.925G>T (p.Gly309Cys) c.838G>T (p.Gly280Cys) n.738G>T | |
17 | g.45996657G>A | CA399978467 | MAPT | c.728G>A (p.Gly243Asp) c.641G>A (p.Gly214Asp) c.815G>A (p.Gly272Asp) n.679G>A n.47G>A c.1991G>A (p.Gly664Asp) c.1793G>A (p.Gly598Asp) c.1766G>A (p.Gly589Asp) c.1820G>A (p.Gly607Asp) n.769G>A n.6100G>A c.2078G>A (p.Gly693Asp) c.1904G>A (p.Gly635Asp) c.1880G>A (p.Gly627Asp) c.1013G>A (p.Gly338Asp) c.926G>A (p.Gly309Asp) c.839G>A (p.Gly280Asp) n.739G>A | COSMIC COSMIC COSMIC |
17 | g.45996657G>C | CA399978466 | MAPT | c.728G>C (p.Gly243Ala) c.641G>C (p.Gly214Ala) c.815G>C (p.Gly272Ala) n.679G>C n.47G>C c.1991G>C (p.Gly664Ala) c.1793G>C (p.Gly598Ala) c.1766G>C (p.Gly589Ala) c.1820G>C (p.Gly607Ala) n.769G>C n.6100G>C c.2078G>C (p.Gly693Ala) c.1904G>C (p.Gly635Ala) c.1880G>C (p.Gly627Ala) c.1013G>C (p.Gly338Ala) c.926G>C (p.Gly309Ala) c.839G>C (p.Gly280Ala) n.739G>C | |
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= | |
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.45996658C>A | CA500644075 | MAPT | c.729C>A (p.Gly243=) c.642C>A (p.Gly214=) c.816C>A (p.Gly272=) n.680C>A n.48C>A c.1992C>A (p.Gly664=) c.1794C>A (p.Gly598=) c.1767C>A (p.Gly589=) c.1821C>A (p.Gly607=) n.770C>A n.6101C>A c.2079C>A (p.Gly693=) c.1905C>A (p.Gly635=) c.1881C>A (p.Gly627=) c.1014C>A (p.Gly338=) c.927C>A (p.Gly309=) c.840C>A (p.Gly280=) n.740C>A | dbSNP |
17 | g.45996658C= | CA2262095050 | MAPT | c.729C= (p.Gly243=) c.642C= (p.Gly214=) c.816C= (p.Gly272=) n.680C= n.48C= c.1992C= (p.Gly664=) c.1794C= (p.Gly598=) c.1767C= (p.Gly589=) c.1821C= (p.Gly607=) n.770C= n.6101C= c.2079C= (p.Gly693=) c.1905C= (p.Gly635=) c.1881C= (p.Gly627=) c.1014C= (p.Gly338=) c.927C= (p.Gly309=) c.840C= (p.Gly280=) n.740C= | |
17 | g.45996658C>G | CA500644074 | MAPT | c.729C>G (p.Gly243=) c.642C>G (p.Gly214=) c.816C>G (p.Gly272=) n.680C>G n.48C>G c.1992C>G (p.Gly664=) c.1794C>G (p.Gly598=) c.1767C>G (p.Gly589=) c.1821C>G (p.Gly607=) n.770C>G n.6101C>G c.2079C>G (p.Gly693=) c.1905C>G (p.Gly635=) c.1881C>G (p.Gly627=) c.1014C>G (p.Gly338=) c.927C>G (p.Gly309=) c.840C>G (p.Gly280=) n.740C>G | |
17 | g.45996658C>T | CA8618066 | MAPT | c.729C>T (p.Gly243=) c.642C>T (p.Gly214=) c.816C>T (p.Gly272=) n.680C>T n.48C>T c.1992C>T (p.Gly664=) c.1794C>T (p.Gly598=) c.1767C>T (p.Gly589=) c.1821C>T (p.Gly607=) n.770C>T n.6101C>T c.2079C>T (p.Gly693=) c.1905C>T (p.Gly635=) c.1881C>T (p.Gly627=) c.1014C>T (p.Gly338=) c.927C>T (p.Gly309=) c.840C>T (p.Gly280=) n.740C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996659G>A | CA399978468 | MAPT | c.730G>A (p.Gly244Arg) c.643G>A (p.Gly215Arg) c.817G>A (p.Gly273Arg) n.681G>A n.49G>A c.1993G>A (p.Gly665Arg) c.1795G>A (p.Gly599Arg) c.1768G>A (p.Gly590Arg) c.1822G>A (p.Gly608Arg) n.771G>A n.6102G>A c.2080G>A (p.Gly694Arg) c.1906G>A (p.Gly636Arg) c.1882G>A (p.Gly628Arg) c.1015G>A (p.Gly339Arg) c.928G>A (p.Gly310Arg) c.841G>A (p.Gly281Arg) n.741G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996659G>C | CA399978469 | MAPT | c.730G>C (p.Gly244Arg) c.643G>C (p.Gly215Arg) c.817G>C (p.Gly273Arg) n.681G>C n.49G>C c.1993G>C (p.Gly665Arg) c.1795G>C (p.Gly599Arg) c.1768G>C (p.Gly590Arg) c.1822G>C (p.Gly608Arg) n.771G>C n.6102G>C c.2080G>C (p.Gly694Arg) c.1906G>C (p.Gly636Arg) c.1882G>C (p.Gly628Arg) c.1015G>C (p.Gly339Arg) c.928G>C (p.Gly310Arg) c.841G>C (p.Gly281Arg) n.741G>C | |
17 | g.45996659G= | CA2262095051 | MAPT | c.730G= (p.Gly244=) c.643G= (p.Gly215=) c.817G= (p.Gly273=) n.681G= n.49G= c.1993G= (p.Gly665=) c.1795G= (p.Gly599=) c.1768G= (p.Gly590=) c.1822G= (p.Gly608=) n.771G= n.6102G= c.2080G= (p.Gly694=) c.1906G= (p.Gly636=) c.1882G= (p.Gly628=) c.1015G= (p.Gly339=) c.928G= (p.Gly310=) c.841G= (p.Gly281=) n.741G= | |
17 | g.45996659G>T | CA399978470 | MAPT | c.730G>T (p.Gly244Trp) c.643G>T (p.Gly215Trp) c.817G>T (p.Gly273Trp) n.681G>T n.49G>T c.1993G>T (p.Gly665Trp) c.1795G>T (p.Gly599Trp) c.1768G>T (p.Gly590Trp) c.1822G>T (p.Gly608Trp) n.771G>T n.6102G>T c.2080G>T (p.Gly694Trp) c.1906G>T (p.Gly636Trp) c.1882G>T (p.Gly628Trp) c.1015G>T (p.Gly339Trp) c.928G>T (p.Gly310Trp) c.841G>T (p.Gly281Trp) n.741G>T | |
17 | g.45996660G>A | CA399978471 | MAPT | c.731G>A (p.Gly244Glu) c.644G>A (p.Gly215Glu) c.818G>A (p.Gly273Glu) n.682G>A n.50G>A c.1994G>A (p.Gly665Glu) c.1796G>A (p.Gly599Glu) c.1769G>A (p.Gly590Glu) c.1823G>A (p.Gly608Glu) n.772G>A n.6103G>A c.2081G>A (p.Gly694Glu) c.1907G>A (p.Gly636Glu) c.1883G>A (p.Gly628Glu) c.1016G>A (p.Gly339Glu) c.929G>A (p.Gly310Glu) c.842G>A (p.Gly281Glu) n.742G>A | |
17 | g.45996660G>C | CA399978472 | MAPT | c.731G>C (p.Gly244Ala) c.644G>C (p.Gly215Ala) c.818G>C (p.Gly273Ala) n.682G>C n.50G>C c.1994G>C (p.Gly665Ala) c.1796G>C (p.Gly599Ala) c.1769G>C (p.Gly590Ala) c.1823G>C (p.Gly608Ala) n.772G>C n.6103G>C c.2081G>C (p.Gly694Ala) c.1907G>C (p.Gly636Ala) c.1883G>C (p.Gly628Ala) c.1016G>C (p.Gly339Ala) c.929G>C (p.Gly310Ala) c.842G>C (p.Gly281Ala) n.742G>C | |
17 | g.45996660G>T | CA399978473 | MAPT | c.731G>T (p.Gly244Val) c.644G>T (p.Gly215Val) c.818G>T (p.Gly273Val) n.682G>T n.50G>T c.1994G>T (p.Gly665Val) c.1796G>T (p.Gly599Val) c.1769G>T (p.Gly590Val) c.1823G>T (p.Gly608Val) n.772G>T n.6103G>T c.2081G>T (p.Gly694Val) c.1907G>T (p.Gly636Val) c.1883G>T (p.Gly628Val) c.1016G>T (p.Gly339Val) c.929G>T (p.Gly310Val) c.842G>T (p.Gly281Val) n.742G>T | |
17 | g.45996661G>A | CA500644077 | MAPT | c.732G>A (p.Gly244=) c.645G>A (p.Gly215=) c.819G>A (p.Gly273=) n.683G>A n.51G>A c.1995G>A (p.Gly665=) c.1797G>A (p.Gly599=) c.1770G>A (p.Gly590=) c.1824G>A (p.Gly608=) n.773G>A n.6104G>A c.2082G>A (p.Gly694=) c.1908G>A (p.Gly636=) c.1884G>A (p.Gly628=) c.1017G>A (p.Gly339=) c.930G>A (p.Gly310=) c.843G>A (p.Gly281=) n.743G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996661G>C | CA8618067 | MAPT | c.732G>C (p.Gly244=) c.645G>C (p.Gly215=) c.819G>C (p.Gly273=) n.683G>C n.51G>C c.1995G>C (p.Gly665=) c.1797G>C (p.Gly599=) c.1770G>C (p.Gly590=) c.1824G>C (p.Gly608=) n.773G>C n.6104G>C c.2082G>C (p.Gly694=) c.1908G>C (p.Gly636=) c.1884G>C (p.Gly628=) c.1017G>C (p.Gly339=) c.930G>C (p.Gly310=) c.843G>C (p.Gly281=) n.743G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996661G= | CA2262095052 | MAPT | c.732G= (p.Gly244=) c.645G= (p.Gly215=) c.819G= (p.Gly273=) n.683G= n.51G= c.1995G= (p.Gly665=) c.1797G= (p.Gly599=) c.1770G= (p.Gly590=) c.1824G= (p.Gly608=) n.773G= n.6104G= c.2082G= (p.Gly694=) c.1908G= (p.Gly636=) c.1884G= (p.Gly628=) c.1017G= (p.Gly339=) c.930G= (p.Gly310=) c.843G= (p.Gly281=) n.743G= | |
17 | g.45996661G>T | CA500644076 | MAPT | c.732G>T (p.Gly244=) c.645G>T (p.Gly215=) c.819G>T (p.Gly273=) n.683G>T n.51G>T c.1995G>T (p.Gly665=) c.1797G>T (p.Gly599=) c.1770G>T (p.Gly590=) c.1824G>T (p.Gly608=) n.773G>T n.6104G>T c.2082G>T (p.Gly694=) c.1908G>T (p.Gly636=) c.1884G>T (p.Gly628=) c.1017G>T (p.Gly339=) c.930G>T (p.Gly310=) c.843G>T (p.Gly281=) n.743G>T | |
17 | g.45996662A>C | CA399978474 | MAPT | c.733A>C (p.Lys245Gln) c.646A>C (p.Lys216Gln) c.820A>C (p.Lys274Gln) n.684A>C n.52A>C c.1996A>C (p.Lys666Gln) c.1798A>C (p.Lys600Gln) c.1771A>C (p.Lys591Gln) c.1825A>C (p.Lys609Gln) n.774A>C n.6105A>C c.2083A>C (p.Lys695Gln) c.1909A>C (p.Lys637Gln) c.1885A>C (p.Lys629Gln) c.1018A>C (p.Lys340Gln) c.931A>C (p.Lys311Gln) c.844A>C (p.Lys282Gln) n.744A>C | |
17 | g.45996662A>G | CA399978475 | MAPT | c.733A>G (p.Lys245Glu) c.646A>G (p.Lys216Glu) c.820A>G (p.Lys274Glu) n.684A>G n.52A>G c.1996A>G (p.Lys666Glu) c.1798A>G (p.Lys600Glu) c.1771A>G (p.Lys591Glu) c.1825A>G (p.Lys609Glu) n.774A>G n.6105A>G c.2083A>G (p.Lys695Glu) c.1909A>G (p.Lys637Glu) c.1885A>G (p.Lys629Glu) c.1018A>G (p.Lys340Glu) c.931A>G (p.Lys311Glu) c.844A>G (p.Lys282Glu) n.744A>G | |
17 | g.45996662A>T | CA399978476 | MAPT | c.733A>T (p.Lys245Ter) c.646A>T (p.Lys216Ter) c.820A>T (p.Lys274Ter) n.684A>T n.52A>T c.1996A>T (p.Lys666Ter) c.1798A>T (p.Lys600Ter) c.1771A>T (p.Lys591Ter) c.1825A>T (p.Lys609Ter) n.774A>T n.6105A>T c.2083A>T (p.Lys695Ter) c.1909A>T (p.Lys637Ter) c.1885A>T (p.Lys629Ter) c.1018A>T (p.Lys340Ter) c.931A>T (p.Lys311Ter) c.844A>T (p.Lys282Ter) n.744A>T | |
17 | g.45996663A>C | CA399978477 | MAPT | c.734A>C (p.Lys245Thr) c.647A>C (p.Lys216Thr) c.821A>C (p.Lys274Thr) n.685A>C n.53A>C c.1997A>C (p.Lys666Thr) c.1799A>C (p.Lys600Thr) c.1772A>C (p.Lys591Thr) c.1826A>C (p.Lys609Thr) n.775A>C n.6106A>C c.2084A>C (p.Lys695Thr) c.1910A>C (p.Lys637Thr) c.1886A>C (p.Lys629Thr) c.1019A>C (p.Lys340Thr) c.932A>C (p.Lys311Thr) c.845A>C (p.Lys282Thr) n.745A>C | |
17 | g.45996663A>G | CA399978478 | MAPT | c.734A>G (p.Lys245Arg) c.647A>G (p.Lys216Arg) c.821A>G (p.Lys274Arg) n.685A>G n.53A>G c.1997A>G (p.Lys666Arg) c.1799A>G (p.Lys600Arg) c.1772A>G (p.Lys591Arg) c.1826A>G (p.Lys609Arg) n.775A>G n.6106A>G c.2084A>G (p.Lys695Arg) c.1910A>G (p.Lys637Arg) c.1886A>G (p.Lys629Arg) c.1019A>G (p.Lys340Arg) c.932A>G (p.Lys311Arg) c.845A>G (p.Lys282Arg) n.745A>G | |
17 | g.45996663A>T | CA399978479 | MAPT | c.734A>T (p.Lys245Met) c.647A>T (p.Lys216Met) c.821A>T (p.Lys274Met) n.685A>T n.53A>T c.1997A>T (p.Lys666Met) c.1799A>T (p.Lys600Met) c.1772A>T (p.Lys591Met) c.1826A>T (p.Lys609Met) n.775A>T n.6106A>T c.2084A>T (p.Lys695Met) c.1910A>T (p.Lys637Met) c.1886A>T (p.Lys629Met) c.1019A>T (p.Lys340Met) c.932A>T (p.Lys311Met) c.845A>T (p.Lys282Met) n.745A>T | |
17 | g.45996664G>A | CA500644078 | MAPT | c.735G>A (p.Lys245=) c.648G>A (p.Lys216=) c.822G>A (p.Lys274=) n.686G>A n.54G>A c.1998G>A (p.Lys666=) c.1800G>A (p.Lys600=) c.1773G>A (p.Lys591=) c.1827G>A (p.Lys609=) n.776G>A n.6107G>A c.2085G>A (p.Lys695=) c.1911G>A (p.Lys637=) c.1887G>A (p.Lys629=) c.1020G>A (p.Lys340=) c.933G>A (p.Lys311=) c.846G>A (p.Lys282=) n.746G>A | |
17 | g.45996664G>C | CA399978481 | MAPT | c.735G>C (p.Lys245Asn) c.648G>C (p.Lys216Asn) c.822G>C (p.Lys274Asn) n.686G>C n.54G>C c.1998G>C (p.Lys666Asn) c.1800G>C (p.Lys600Asn) c.1773G>C (p.Lys591Asn) c.1827G>C (p.Lys609Asn) n.776G>C n.6107G>C c.2085G>C (p.Lys695Asn) c.1911G>C (p.Lys637Asn) c.1887G>C (p.Lys629Asn) c.1020G>C (p.Lys340Asn) c.933G>C (p.Lys311Asn) c.846G>C (p.Lys282Asn) n.746G>C | |
17 | g.45996664G>T | CA399978480 | MAPT | c.735G>T (p.Lys245Asn) c.648G>T (p.Lys216Asn) c.822G>T (p.Lys274Asn) n.686G>T n.54G>T c.1998G>T (p.Lys666Asn) c.1800G>T (p.Lys600Asn) c.1773G>T (p.Lys591Asn) c.1827G>T (p.Lys609Asn) n.776G>T n.6107G>T c.2085G>T (p.Lys695Asn) c.1911G>T (p.Lys637Asn) c.1887G>T (p.Lys629Asn) c.1020G>T (p.Lys340Asn) c.933G>T (p.Lys311Asn) c.846G>T (p.Lys282Asn) n.746G>T | |
17 | g.45996665G>A | CA399978482 | MAPT | c.735+1G>A (n.735+1G>A) c.648+1G>A (n.648+1G>A) c.822+1G>A (n.822+1G>A) n.686+1G>A n.54+1G>A c.1998+1G>A (n.1998+1G>A) c.1800+1G>A (n.1800+1G>A) c.1773+1G>A (n.1773+1G>A) c.1827+1G>A (n.1827+1G>A) n.776+1G>A n.6107+1G>A c.2085+1G>A (n.2085+1G>A) c.1911+1G>A (n.1911+1G>A) c.1887+1G>A (n.1887+1G>A) c.1020+1G>A (n.1020+1G>A) c.933+1G>A (n.933+1G>A) c.846+1G>A (n.846+1G>A) n.746+1G>A | dbSNP |
17 | g.45996665G>C | CA399978484 | MAPT | c.735+1G>C (n.735+1G>C) c.648+1G>C (n.648+1G>C) c.822+1G>C (n.822+1G>C) n.686+1G>C n.54+1G>C c.1998+1G>C (n.1998+1G>C) c.1800+1G>C (n.1800+1G>C) c.1773+1G>C (n.1773+1G>C) c.1827+1G>C (n.1827+1G>C) n.776+1G>C n.6107+1G>C c.2085+1G>C (n.2085+1G>C) c.1911+1G>C (n.1911+1G>C) c.1887+1G>C (n.1887+1G>C) c.1020+1G>C (n.1020+1G>C) c.933+1G>C (n.933+1G>C) c.846+1G>C (n.846+1G>C) n.746+1G>C | |
17 | g.45996665G= | CA2262095053 | MAPT | c.735+1G= (n.735+1G=) c.648+1G= (n.648+1G=) c.822+1G= (n.822+1G=) n.686+1G= n.54+1G= c.1998+1G= (n.1998+1G=) c.1800+1G= (n.1800+1G=) c.1773+1G= (n.1773+1G=) c.1827+1G= (n.1827+1G=) n.776+1G= n.6107+1G= c.2085+1G= (n.2085+1G=) c.1911+1G= (n.1911+1G=) c.1887+1G= (n.1887+1G=) c.1020+1G= (n.1020+1G=) c.933+1G= (n.933+1G=) c.846+1G= (n.846+1G=) n.746+1G= | |
17 | g.45996665G>T | CA399978483 | MAPT | c.735+1G>T (n.735+1G>T) c.648+1G>T (n.648+1G>T) c.822+1G>T (n.822+1G>T) n.686+1G>T n.54+1G>T c.1998+1G>T (n.1998+1G>T) c.1800+1G>T (n.1800+1G>T) c.1773+1G>T (n.1773+1G>T) c.1827+1G>T (n.1827+1G>T) n.776+1G>T n.6107+1G>T c.2085+1G>T (n.2085+1G>T) c.1911+1G>T (n.1911+1G>T) c.1887+1G>T (n.1887+1G>T) c.1020+1G>T (n.1020+1G>T) c.933+1G>T (n.933+1G>T) c.846+1G>T (n.846+1G>T) n.746+1G>T | |
17 | g.45996666T>A | CA399978485 | MAPT | c.735+2T>A (n.735+2T>A) c.648+2T>A (n.648+2T>A) c.822+2T>A (n.822+2T>A) n.686+2T>A n.54+2T>A c.1998+2T>A (n.1998+2T>A) c.1800+2T>A (n.1800+2T>A) c.1773+2T>A (n.1773+2T>A) c.1827+2T>A (n.1827+2T>A) n.776+2T>A n.6107+2T>A c.2085+2T>A (n.2085+2T>A) c.1911+2T>A (n.1911+2T>A) c.1887+2T>A (n.1887+2T>A) c.1020+2T>A (n.1020+2T>A) c.933+2T>A (n.933+2T>A) c.846+2T>A (n.846+2T>A) n.746+2T>A |