| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46023961A>C | CA399984268 | MAPT | c.1029A>C (p.Glu343Asp) c.942A>C (p.Glu314Asp) c.1116A>C (p.Glu372Asp) n.342A>C n.300A>C n.534A>C c.2292A>C (p.Glu764Asp) c.2001A>C (p.Glu667Asp) c.936A>C (p.Glu312Asp) c.1065A>C (p.Glu355Asp) c.2067A>C (p.Glu689Asp) c.849A>C (p.Glu283Asp) c.2121A>C (p.Glu707Asp) c.1023A>C (p.Glu341Asp) n.6308A>C c.2379A>C (p.Glu793Asp) c.2286A>C (p.Glu762Asp) c.2205A>C (p.Glu735Asp) c.2181A>C (p.Glu727Asp) c.2088A>C (p.Glu696Asp) c.1314A>C (p.Glu438Asp) c.1227A>C (p.Glu409Asp) c.1140A>C (p.Glu380Asp) c.772-1156A>C (n.772-1156A>C) n.947A>C | |
| 17 | g.46023961A>G | CA500371384 | MAPT | c.1029A>G (p.Glu343=) c.942A>G (p.Glu314=) c.1116A>G (p.Glu372=) n.342A>G n.300A>G n.534A>G c.2292A>G (p.Glu764=) c.2001A>G (p.Glu667=) c.936A>G (p.Glu312=) c.1065A>G (p.Glu355=) c.2067A>G (p.Glu689=) c.849A>G (p.Glu283=) c.2121A>G (p.Glu707=) c.1023A>G (p.Glu341=) n.6308A>G c.2379A>G (p.Glu793=) c.2286A>G (p.Glu762=) c.2205A>G (p.Glu735=) c.2181A>G (p.Glu727=) c.2088A>G (p.Glu696=) c.1314A>G (p.Glu438=) c.1227A>G (p.Glu409=) c.1140A>G (p.Glu380=) c.772-1156A>G (n.772-1156A>G) n.947A>G | |
| 17 | g.46023961A>T | CA399984269 | MAPT | c.1029A>T (p.Glu343Asp) c.942A>T (p.Glu314Asp) c.1116A>T (p.Glu372Asp) n.342A>T n.300A>T n.534A>T c.2292A>T (p.Glu764Asp) c.2001A>T (p.Glu667Asp) c.936A>T (p.Glu312Asp) c.1065A>T (p.Glu355Asp) c.2067A>T (p.Glu689Asp) c.849A>T (p.Glu283Asp) c.2121A>T (p.Glu707Asp) c.1023A>T (p.Glu341Asp) n.6308A>T c.2379A>T (p.Glu793Asp) c.2286A>T (p.Glu762Asp) c.2205A>T (p.Glu735Asp) c.2181A>T (p.Glu727Asp) c.2088A>T (p.Glu696Asp) c.1314A>T (p.Glu438Asp) c.1227A>T (p.Glu409Asp) c.1140A>T (p.Glu380Asp) c.772-1156A>T (n.772-1156A>T) n.947A>T | |
| 17 | g.46023962A>C | CA399984270 | MAPT | c.1030A>C (p.Thr344Pro) c.943A>C (p.Thr315Pro) c.1117A>C (p.Thr373Pro) n.343A>C n.301A>C n.535A>C c.2293A>C (p.Thr765Pro) c.2002A>C (p.Thr668Pro) c.937A>C (p.Thr313Pro) c.1066A>C (p.Thr356Pro) c.2068A>C (p.Thr690Pro) c.850A>C (p.Thr284Pro) c.2122A>C (p.Thr708Pro) c.1024A>C (p.Thr342Pro) n.6309A>C c.2380A>C (p.Thr794Pro) c.2287A>C (p.Thr763Pro) c.2206A>C (p.Thr736Pro) c.2182A>C (p.Thr728Pro) c.2089A>C (p.Thr697Pro) c.1315A>C (p.Thr439Pro) c.1228A>C (p.Thr410Pro) c.1141A>C (p.Thr381Pro) c.772-1155A>C (n.772-1155A>C) n.948A>C | |
| 17 | g.46023962A>G | CA399984271 | MAPT | c.1030A>G (p.Thr344Ala) c.943A>G (p.Thr315Ala) c.1117A>G (p.Thr373Ala) n.343A>G n.301A>G n.535A>G c.2293A>G (p.Thr765Ala) c.2002A>G (p.Thr668Ala) c.937A>G (p.Thr313Ala) c.1066A>G (p.Thr356Ala) c.2068A>G (p.Thr690Ala) c.850A>G (p.Thr284Ala) c.2122A>G (p.Thr708Ala) c.1024A>G (p.Thr342Ala) n.6309A>G c.2380A>G (p.Thr794Ala) c.2287A>G (p.Thr763Ala) c.2206A>G (p.Thr736Ala) c.2182A>G (p.Thr728Ala) c.2089A>G (p.Thr697Ala) c.1315A>G (p.Thr439Ala) c.1228A>G (p.Thr410Ala) c.1141A>G (p.Thr381Ala) c.772-1155A>G (n.772-1155A>G) n.948A>G | |
| 17 | g.46023962A>T | CA399984272 | MAPT | c.1030A>T (p.Thr344Ser) c.943A>T (p.Thr315Ser) c.1117A>T (p.Thr373Ser) n.343A>T n.301A>T n.535A>T c.2293A>T (p.Thr765Ser) c.2002A>T (p.Thr668Ser) c.937A>T (p.Thr313Ser) c.1066A>T (p.Thr356Ser) c.2068A>T (p.Thr690Ser) c.850A>T (p.Thr284Ser) c.2122A>T (p.Thr708Ser) c.1024A>T (p.Thr342Ser) n.6309A>T c.2380A>T (p.Thr794Ser) c.2287A>T (p.Thr763Ser) c.2206A>T (p.Thr736Ser) c.2182A>T (p.Thr728Ser) c.2089A>T (p.Thr697Ser) c.1315A>T (p.Thr439Ser) c.1228A>T (p.Thr410Ser) c.1141A>T (p.Thr381Ser) c.772-1155A>T (n.772-1155A>T) n.948A>T | |
| 17 | g.46023963C>A | CA399984273 | MAPT | c.1031C>A (p.Thr344Asn) c.944C>A (p.Thr315Asn) c.1118C>A (p.Thr373Asn) n.344C>A n.302C>A n.536C>A c.2294C>A (p.Thr765Asn) c.2003C>A (p.Thr668Asn) c.938C>A (p.Thr313Asn) c.1067C>A (p.Thr356Asn) c.2069C>A (p.Thr690Asn) c.851C>A (p.Thr284Asn) c.2123C>A (p.Thr708Asn) c.1025C>A (p.Thr342Asn) n.6310C>A c.2381C>A (p.Thr794Asn) c.2288C>A (p.Thr763Asn) c.2207C>A (p.Thr736Asn) c.2183C>A (p.Thr728Asn) c.2090C>A (p.Thr697Asn) c.1316C>A (p.Thr439Asn) c.1229C>A (p.Thr410Asn) c.1142C>A (p.Thr381Asn) c.772-1154C>A (n.772-1154C>A) n.949C>A | |
| 17 | g.46023963C= | CA2262106900 | MAPT | c.1031C= (p.Thr344=) c.944C= (p.Thr315=) c.1118C= (p.Thr373=) n.344C= n.302C= n.536C= c.2294C= (p.Thr765=) c.2003C= (p.Thr668=) c.938C= (p.Thr313=) c.1067C= (p.Thr356=) c.2069C= (p.Thr690=) c.851C= (p.Thr284=) c.2123C= (p.Thr708=) c.1025C= (p.Thr342=) n.6310C= c.2381C= (p.Thr794=) c.2288C= (p.Thr763=) c.2207C= (p.Thr736=) c.2183C= (p.Thr728=) c.2090C= (p.Thr697=) c.1316C= (p.Thr439=) c.1229C= (p.Thr410=) c.1142C= (p.Thr381=) c.772-1154C= (n.772-1154C=) n.949C= | |
| 17 | g.46023963C>G | CA399984274 | MAPT | c.1031C>G (p.Thr344Ser) c.944C>G (p.Thr315Ser) c.1118C>G (p.Thr373Ser) n.344C>G n.302C>G n.536C>G c.2294C>G (p.Thr765Ser) c.2003C>G (p.Thr668Ser) c.938C>G (p.Thr313Ser) c.1067C>G (p.Thr356Ser) c.2069C>G (p.Thr690Ser) c.851C>G (p.Thr284Ser) c.2123C>G (p.Thr708Ser) c.1025C>G (p.Thr342Ser) n.6310C>G c.2381C>G (p.Thr794Ser) c.2288C>G (p.Thr763Ser) c.2207C>G (p.Thr736Ser) c.2183C>G (p.Thr728Ser) c.2090C>G (p.Thr697Ser) c.1316C>G (p.Thr439Ser) c.1229C>G (p.Thr410Ser) c.1142C>G (p.Thr381Ser) c.772-1154C>G (n.772-1154C>G) n.949C>G | |
| 17 | g.46023963C>T | CA399984275 | MAPT | c.1031C>T (p.Thr344Ile) c.944C>T (p.Thr315Ile) c.1118C>T (p.Thr373Ile) n.344C>T n.302C>T n.536C>T c.2294C>T (p.Thr765Ile) c.2003C>T (p.Thr668Ile) c.938C>T (p.Thr313Ile) c.1067C>T (p.Thr356Ile) c.2069C>T (p.Thr690Ile) c.851C>T (p.Thr284Ile) c.2123C>T (p.Thr708Ile) c.1025C>T (p.Thr342Ile) n.6310C>T c.2381C>T (p.Thr794Ile) c.2288C>T (p.Thr763Ile) c.2207C>T (p.Thr736Ile) c.2183C>T (p.Thr728Ile) c.2090C>T (p.Thr697Ile) c.1316C>T (p.Thr439Ile) c.1229C>T (p.Thr410Ile) c.1142C>T (p.Thr381Ile) c.772-1154C>T (n.772-1154C>T) n.949C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.46023964C>A | CA500371386 | MAPT | c.1032C>A (p.Thr344=) c.945C>A (p.Thr315=) c.1119C>A (p.Thr373=) n.345C>A n.303C>A n.537C>A c.2295C>A (p.Thr765=) c.2004C>A (p.Thr668=) c.939C>A (p.Thr313=) c.1068C>A (p.Thr356=) c.2070C>A (p.Thr690=) c.852C>A (p.Thr284=) c.2124C>A (p.Thr708=) c.1026C>A (p.Thr342=) n.6311C>A c.2382C>A (p.Thr794=) c.2289C>A (p.Thr763=) c.2208C>A (p.Thr736=) c.2184C>A (p.Thr728=) c.2091C>A (p.Thr697=) c.1317C>A (p.Thr439=) c.1230C>A (p.Thr410=) c.1143C>A (p.Thr381=) c.772-1153C>A (n.772-1153C>A) n.950C>A | |
| 17 | g.46023964C>G | CA500371387 | MAPT | c.1032C>G (p.Thr344=) c.945C>G (p.Thr315=) c.1119C>G (p.Thr373=) n.345C>G n.303C>G n.537C>G c.2295C>G (p.Thr765=) c.2004C>G (p.Thr668=) c.939C>G (p.Thr313=) c.1068C>G (p.Thr356=) c.2070C>G (p.Thr690=) c.852C>G (p.Thr284=) c.2124C>G (p.Thr708=) c.1026C>G (p.Thr342=) n.6311C>G c.2382C>G (p.Thr794=) c.2289C>G (p.Thr763=) c.2208C>G (p.Thr736=) c.2184C>G (p.Thr728=) c.2091C>G (p.Thr697=) c.1317C>G (p.Thr439=) c.1230C>G (p.Thr410=) c.1143C>G (p.Thr381=) c.772-1153C>G (n.772-1153C>G) n.950C>G | |
| 17 | g.46023964C>T | CA500371385 | MAPT | c.1032C>T (p.Thr344=) c.945C>T (p.Thr315=) c.1119C>T (p.Thr373=) n.345C>T n.303C>T n.537C>T c.2295C>T (p.Thr765=) c.2004C>T (p.Thr668=) c.939C>T (p.Thr313=) c.1068C>T (p.Thr356=) c.2070C>T (p.Thr690=) c.852C>T (p.Thr284=) c.2124C>T (p.Thr708=) c.1026C>T (p.Thr342=) n.6311C>T c.2382C>T (p.Thr794=) c.2289C>T (p.Thr763=) c.2208C>T (p.Thr736=) c.2184C>T (p.Thr728=) c.2091C>T (p.Thr697=) c.1317C>T (p.Thr439=) c.1230C>T (p.Thr410=) c.1143C>T (p.Thr381=) c.772-1153C>T (n.772-1153C>T) n.950C>T | |
| 17 | g.46023965C>A | CA399984276 | MAPT | c.1033C>A (p.His345Asn) c.946C>A (p.His316Asn) c.1120C>A (p.His374Asn) n.346C>A n.304C>A n.538C>A c.2296C>A (p.His766Asn) c.2005C>A (p.His669Asn) c.940C>A (p.His314Asn) c.1069C>A (p.His357Asn) c.2071C>A (p.His691Asn) c.853C>A (p.His285Asn) c.2125C>A (p.His709Asn) c.1027C>A (p.His343Asn) n.6312C>A c.2383C>A (p.His795Asn) c.2290C>A (p.His764Asn) c.2209C>A (p.His737Asn) c.2185C>A (p.His729Asn) c.2092C>A (p.His698Asn) c.1318C>A (p.His440Asn) c.1231C>A (p.His411Asn) c.1144C>A (p.His382Asn) c.772-1152C>A (n.772-1152C>A) n.951C>A | |
| 17 | g.46023965C>G | CA399984277 | MAPT | c.1033C>G (p.His345Asp) c.946C>G (p.His316Asp) c.1120C>G (p.His374Asp) n.346C>G n.304C>G n.538C>G c.2296C>G (p.His766Asp) c.2005C>G (p.His669Asp) c.940C>G (p.His314Asp) c.1069C>G (p.His357Asp) c.2071C>G (p.His691Asp) c.853C>G (p.His285Asp) c.2125C>G (p.His709Asp) c.1027C>G (p.His343Asp) n.6312C>G c.2383C>G (p.His795Asp) c.2290C>G (p.His764Asp) c.2209C>G (p.His737Asp) c.2185C>G (p.His729Asp) c.2092C>G (p.His698Asp) c.1318C>G (p.His440Asp) c.1231C>G (p.His411Asp) c.1144C>G (p.His382Asp) c.772-1152C>G (n.772-1152C>G) n.951C>G | |
| 17 | g.46023965C>T | CA399984278 | MAPT | c.1033C>T (p.His345Tyr) c.946C>T (p.His316Tyr) c.1120C>T (p.His374Tyr) n.346C>T n.304C>T n.538C>T c.2296C>T (p.His766Tyr) c.2005C>T (p.His669Tyr) c.940C>T (p.His314Tyr) c.1069C>T (p.His357Tyr) c.2071C>T (p.His691Tyr) c.853C>T (p.His285Tyr) c.2125C>T (p.His709Tyr) c.1027C>T (p.His343Tyr) n.6312C>T c.2383C>T (p.His795Tyr) c.2290C>T (p.His764Tyr) c.2209C>T (p.His737Tyr) c.2185C>T (p.His729Tyr) c.2092C>T (p.His698Tyr) c.1318C>T (p.His440Tyr) c.1231C>T (p.His411Tyr) c.1144C>T (p.His382Tyr) c.772-1152C>T (n.772-1152C>T) n.951C>T | |
| 17 | g.46023966A>C | CA399984279 | MAPT | c.1034A>C (p.His345Pro) c.947A>C (p.His316Pro) c.1121A>C (p.His374Pro) n.347A>C n.305A>C n.539A>C c.2297A>C (p.His766Pro) c.2006A>C (p.His669Pro) c.941A>C (p.His314Pro) c.1070A>C (p.His357Pro) c.2072A>C (p.His691Pro) c.854A>C (p.His285Pro) c.2126A>C (p.His709Pro) c.1028A>C (p.His343Pro) n.6313A>C c.2384A>C (p.His795Pro) c.2291A>C (p.His764Pro) c.2210A>C (p.His737Pro) c.2186A>C (p.His729Pro) c.2093A>C (p.His698Pro) c.1319A>C (p.His440Pro) c.1232A>C (p.His411Pro) c.1145A>C (p.His382Pro) c.772-1151A>C (n.772-1151A>C) n.952A>C | |
| 17 | g.46023966A>G | CA399984280 | MAPT | c.1034A>G (p.His345Arg) c.947A>G (p.His316Arg) c.1121A>G (p.His374Arg) n.347A>G n.305A>G n.539A>G c.2297A>G (p.His766Arg) c.2006A>G (p.His669Arg) c.941A>G (p.His314Arg) c.1070A>G (p.His357Arg) c.2072A>G (p.His691Arg) c.854A>G (p.His285Arg) c.2126A>G (p.His709Arg) c.1028A>G (p.His343Arg) n.6313A>G c.2384A>G (p.His795Arg) c.2291A>G (p.His764Arg) c.2210A>G (p.His737Arg) c.2186A>G (p.His729Arg) c.2093A>G (p.His698Arg) c.1319A>G (p.His440Arg) c.1232A>G (p.His411Arg) c.1145A>G (p.His382Arg) c.772-1151A>G (n.772-1151A>G) n.952A>G | |
| 17 | g.46023966A>T | CA399984281 | MAPT | c.1034A>T (p.His345Leu) c.947A>T (p.His316Leu) c.1121A>T (p.His374Leu) n.347A>T n.305A>T n.539A>T c.2297A>T (p.His766Leu) c.2006A>T (p.His669Leu) c.941A>T (p.His314Leu) c.1070A>T (p.His357Leu) c.2072A>T (p.His691Leu) c.854A>T (p.His285Leu) c.2126A>T (p.His709Leu) c.1028A>T (p.His343Leu) n.6313A>T c.2384A>T (p.His795Leu) c.2291A>T (p.His764Leu) c.2210A>T (p.His737Leu) c.2186A>T (p.His729Leu) c.2093A>T (p.His698Leu) c.1319A>T (p.His440Leu) c.1232A>T (p.His411Leu) c.1145A>T (p.His382Leu) c.772-1151A>T (n.772-1151A>T) n.952A>T | |
| 17 | g.46023967C>A | CA399984282 | MAPT | c.1035C>A (p.His345Gln) c.948C>A (p.His316Gln) c.1122C>A (p.His374Gln) n.348C>A n.306C>A n.540C>A c.2298C>A (p.His766Gln) c.2007C>A (p.His669Gln) c.942C>A (p.His314Gln) c.1071C>A (p.His357Gln) c.2073C>A (p.His691Gln) c.855C>A (p.His285Gln) c.2127C>A (p.His709Gln) c.1029C>A (p.His343Gln) n.6314C>A c.2385C>A (p.His795Gln) c.2292C>A (p.His764Gln) c.2211C>A (p.His737Gln) c.2187C>A (p.His729Gln) c.2094C>A (p.His698Gln) c.1320C>A (p.His440Gln) c.1233C>A (p.His411Gln) c.1146C>A (p.His382Gln) c.772-1150C>A (n.772-1150C>A) n.953C>A | |
| 17 | g.46023967C>G | CA399984283 | MAPT | c.1035C>G (p.His345Gln) c.948C>G (p.His316Gln) c.1122C>G (p.His374Gln) n.348C>G n.306C>G n.540C>G c.2298C>G (p.His766Gln) c.2007C>G (p.His669Gln) c.942C>G (p.His314Gln) c.1071C>G (p.His357Gln) c.2073C>G (p.His691Gln) c.855C>G (p.His285Gln) c.2127C>G (p.His709Gln) c.1029C>G (p.His343Gln) n.6314C>G c.2385C>G (p.His795Gln) c.2292C>G (p.His764Gln) c.2211C>G (p.His737Gln) c.2187C>G (p.His729Gln) c.2094C>G (p.His698Gln) c.1320C>G (p.His440Gln) c.1233C>G (p.His411Gln) c.1146C>G (p.His382Gln) c.772-1150C>G (n.772-1150C>G) n.953C>G | |
| 17 | g.46023967C>T | CA500371388 | MAPT | c.1035C>T (p.His345=) c.948C>T (p.His316=) c.1122C>T (p.His374=) n.348C>T n.306C>T n.540C>T c.2298C>T (p.His766=) c.2007C>T (p.His669=) c.942C>T (p.His314=) c.1071C>T (p.His357=) c.2073C>T (p.His691=) c.855C>T (p.His285=) c.2127C>T (p.His709=) c.1029C>T (p.His343=) n.6314C>T c.2385C>T (p.His795=) c.2292C>T (p.His764=) c.2211C>T (p.His737=) c.2187C>T (p.His729=) c.2094C>T (p.His698=) c.1320C>T (p.His440=) c.1233C>T (p.His411=) c.1146C>T (p.His382=) c.772-1150C>T (n.772-1150C>T) n.953C>T | |
| 17 | g.46023968A>C | CA399984284 | MAPT | c.1036A>C (p.Lys346Gln) c.949A>C (p.Lys317Gln) c.1123A>C (p.Lys375Gln) n.349A>C n.307A>C n.541A>C c.2299A>C (p.Lys767Gln) c.2008A>C (p.Lys670Gln) c.943A>C (p.Lys315Gln) c.1072A>C (p.Lys358Gln) c.2074A>C (p.Lys692Gln) c.856A>C (p.Lys286Gln) c.2128A>C (p.Lys710Gln) c.1030A>C (p.Lys344Gln) n.6315A>C c.2386A>C (p.Lys796Gln) c.2293A>C (p.Lys765Gln) c.2212A>C (p.Lys738Gln) c.2188A>C (p.Lys730Gln) c.2095A>C (p.Lys699Gln) c.1321A>C (p.Lys441Gln) c.1234A>C (p.Lys412Gln) c.1147A>C (p.Lys383Gln) c.772-1149A>C (n.772-1149A>C) n.954A>C | |
| 17 | g.46023968A>G | CA399984285 | MAPT | c.1036A>G (p.Lys346Glu) c.949A>G (p.Lys317Glu) c.1123A>G (p.Lys375Glu) n.349A>G n.307A>G n.541A>G c.2299A>G (p.Lys767Glu) c.2008A>G (p.Lys670Glu) c.943A>G (p.Lys315Glu) c.1072A>G (p.Lys358Glu) c.2074A>G (p.Lys692Glu) c.856A>G (p.Lys286Glu) c.2128A>G (p.Lys710Glu) c.1030A>G (p.Lys344Glu) n.6315A>G c.2386A>G (p.Lys796Glu) c.2293A>G (p.Lys765Glu) c.2212A>G (p.Lys738Glu) c.2188A>G (p.Lys730Glu) c.2095A>G (p.Lys699Glu) c.1321A>G (p.Lys441Glu) c.1234A>G (p.Lys412Glu) c.1147A>G (p.Lys383Glu) c.772-1149A>G (n.772-1149A>G) n.954A>G | |
| 17 | g.46023968A>T | CA399984286 | MAPT | c.1036A>T (p.Lys346Ter) c.949A>T (p.Lys317Ter) c.1123A>T (p.Lys375Ter) n.349A>T n.307A>T n.541A>T c.2299A>T (p.Lys767Ter) c.2008A>T (p.Lys670Ter) c.943A>T (p.Lys315Ter) c.1072A>T (p.Lys358Ter) c.2074A>T (p.Lys692Ter) c.856A>T (p.Lys286Ter) c.2128A>T (p.Lys710Ter) c.1030A>T (p.Lys344Ter) n.6315A>T c.2386A>T (p.Lys796Ter) c.2293A>T (p.Lys765Ter) c.2212A>T (p.Lys738Ter) c.2188A>T (p.Lys730Ter) c.2095A>T (p.Lys699Ter) c.1321A>T (p.Lys441Ter) c.1234A>T (p.Lys412Ter) c.1147A>T (p.Lys383Ter) c.772-1149A>T (n.772-1149A>T) n.954A>T | |
| 17 | g.46023969A>C | CA399984287 | MAPT | c.1037A>C (p.Lys346Thr) c.950A>C (p.Lys317Thr) c.1124A>C (p.Lys375Thr) n.350A>C n.308A>C n.542A>C c.2300A>C (p.Lys767Thr) c.2009A>C (p.Lys670Thr) c.944A>C (p.Lys315Thr) c.1073A>C (p.Lys358Thr) c.2075A>C (p.Lys692Thr) c.857A>C (p.Lys286Thr) c.2129A>C (p.Lys710Thr) c.1031A>C (p.Lys344Thr) n.6316A>C c.2387A>C (p.Lys796Thr) c.2294A>C (p.Lys765Thr) c.2213A>C (p.Lys738Thr) c.2189A>C (p.Lys730Thr) c.2096A>C (p.Lys699Thr) c.1322A>C (p.Lys441Thr) c.1235A>C (p.Lys412Thr) c.1148A>C (p.Lys383Thr) c.772-1148A>C (n.772-1148A>C) n.955A>C | |
| 17 | g.46023969A>G | CA399984288 | MAPT | c.1037A>G (p.Lys346Arg) c.950A>G (p.Lys317Arg) c.1124A>G (p.Lys375Arg) n.350A>G n.308A>G n.542A>G c.2300A>G (p.Lys767Arg) c.2009A>G (p.Lys670Arg) c.944A>G (p.Lys315Arg) c.1073A>G (p.Lys358Arg) c.2075A>G (p.Lys692Arg) c.857A>G (p.Lys286Arg) c.2129A>G (p.Lys710Arg) c.1031A>G (p.Lys344Arg) n.6316A>G c.2387A>G (p.Lys796Arg) c.2294A>G (p.Lys765Arg) c.2213A>G (p.Lys738Arg) c.2189A>G (p.Lys730Arg) c.2096A>G (p.Lys699Arg) c.1322A>G (p.Lys441Arg) c.1235A>G (p.Lys412Arg) c.1148A>G (p.Lys383Arg) c.772-1148A>G (n.772-1148A>G) n.955A>G | gnomAD v4 |
| 17 | g.46023969A>T | CA399984289 | MAPT | c.1037A>T (p.Lys346Met) c.950A>T (p.Lys317Met) c.1124A>T (p.Lys375Met) n.350A>T n.308A>T n.542A>T c.2300A>T (p.Lys767Met) c.2009A>T (p.Lys670Met) c.944A>T (p.Lys315Met) c.1073A>T (p.Lys358Met) c.2075A>T (p.Lys692Met) c.857A>T (p.Lys286Met) c.2129A>T (p.Lys710Met) c.1031A>T (p.Lys344Met) n.6316A>T c.2387A>T (p.Lys796Met) c.2294A>T (p.Lys765Met) c.2213A>T (p.Lys738Met) c.2189A>T (p.Lys730Met) c.2096A>T (p.Lys699Met) c.1322A>T (p.Lys441Met) c.1235A>T (p.Lys412Met) c.1148A>T (p.Lys383Met) c.772-1148A>T (n.772-1148A>T) n.955A>T | |
| 17 | g.46023970G>A | CA500371389 | MAPT | c.1038G>A (p.Lys346=) c.951G>A (p.Lys317=) c.1125G>A (p.Lys375=) n.351G>A n.309G>A n.543G>A c.2301G>A (p.Lys767=) c.2010G>A (p.Lys670=) c.945G>A (p.Lys315=) c.1074G>A (p.Lys358=) c.2076G>A (p.Lys692=) c.858G>A (p.Lys286=) c.2130G>A (p.Lys710=) c.1032G>A (p.Lys344=) n.6317G>A c.2388G>A (p.Lys796=) c.2295G>A (p.Lys765=) c.2214G>A (p.Lys738=) c.2190G>A (p.Lys730=) c.2097G>A (p.Lys699=) c.1323G>A (p.Lys441=) c.1236G>A (p.Lys412=) c.1149G>A (p.Lys383=) c.772-1147G>A (n.772-1147G>A) n.956G>A | gnomAD v4 |
| 17 | g.46023970G>C | CA399984290 | MAPT | c.1038G>C (p.Lys346Asn) c.951G>C (p.Lys317Asn) c.1125G>C (p.Lys375Asn) n.351G>C n.309G>C n.543G>C c.2301G>C (p.Lys767Asn) c.2010G>C (p.Lys670Asn) c.945G>C (p.Lys315Asn) c.1074G>C (p.Lys358Asn) c.2076G>C (p.Lys692Asn) c.858G>C (p.Lys286Asn) c.2130G>C (p.Lys710Asn) c.1032G>C (p.Lys344Asn) n.6317G>C c.2388G>C (p.Lys796Asn) c.2295G>C (p.Lys765Asn) c.2214G>C (p.Lys738Asn) c.2190G>C (p.Lys730Asn) c.2097G>C (p.Lys699Asn) c.1323G>C (p.Lys441Asn) c.1236G>C (p.Lys412Asn) c.1149G>C (p.Lys383Asn) c.772-1147G>C (n.772-1147G>C) n.956G>C | |
| 17 | g.46023970G>T | CA399984291 | MAPT | c.1038G>T (p.Lys346Asn) c.951G>T (p.Lys317Asn) c.1125G>T (p.Lys375Asn) n.351G>T n.309G>T n.543G>T c.2301G>T (p.Lys767Asn) c.2010G>T (p.Lys670Asn) c.945G>T (p.Lys315Asn) c.1074G>T (p.Lys358Asn) c.2076G>T (p.Lys692Asn) c.858G>T (p.Lys286Asn) c.2130G>T (p.Lys710Asn) c.1032G>T (p.Lys344Asn) n.6317G>T c.2388G>T (p.Lys796Asn) c.2295G>T (p.Lys765Asn) c.2214G>T (p.Lys738Asn) c.2190G>T (p.Lys730Asn) c.2097G>T (p.Lys699Asn) c.1323G>T (p.Lys441Asn) c.1236G>T (p.Lys412Asn) c.1149G>T (p.Lys383Asn) c.772-1147G>T (n.772-1147G>T) n.956G>T | |
| 17 | g.46023971C>A | CA399984292 | MAPT | c.1039C>A (p.Leu347Met) c.952C>A (p.Leu318Met) c.1126C>A (p.Leu376Met) n.352C>A n.310C>A n.544C>A c.2302C>A (p.Leu768Met) c.2011C>A (p.Leu671Met) c.946C>A (p.Leu316Met) c.1075C>A (p.Leu359Met) c.2077C>A (p.Leu693Met) c.859C>A (p.Leu287Met) c.2131C>A (p.Leu711Met) c.1033C>A (p.Leu345Met) n.6318C>A c.2389C>A (p.Leu797Met) c.2296C>A (p.Leu766Met) c.2215C>A (p.Leu739Met) c.2191C>A (p.Leu731Met) c.2098C>A (p.Leu700Met) c.1324C>A (p.Leu442Met) c.1237C>A (p.Leu413Met) c.1150C>A (p.Leu384Met) c.772-1146C>A (n.772-1146C>A) n.957C>A | |
| 17 | g.46023971C= | CA2262106901 | MAPT | c.1039C= (p.Leu347=) c.952C= (p.Leu318=) c.1126C= (p.Leu376=) n.352C= n.310C= n.544C= c.2302C= (p.Leu768=) c.2011C= (p.Leu671=) c.946C= (p.Leu316=) c.1075C= (p.Leu359=) c.2077C= (p.Leu693=) c.859C= (p.Leu287=) c.2131C= (p.Leu711=) c.1033C= (p.Leu345=) n.6318C= c.2389C= (p.Leu797=) c.2296C= (p.Leu766=) c.2215C= (p.Leu739=) c.2191C= (p.Leu731=) c.2098C= (p.Leu700=) c.1324C= (p.Leu442=) c.1237C= (p.Leu413=) c.1150C= (p.Leu384=) c.772-1146C= (n.772-1146C=) n.957C= | |
| 17 | g.46023971C>G | CA399984293 | MAPT | c.1039C>G (p.Leu347Val) c.952C>G (p.Leu318Val) c.1126C>G (p.Leu376Val) n.352C>G n.310C>G n.544C>G c.2302C>G (p.Leu768Val) c.2011C>G (p.Leu671Val) c.946C>G (p.Leu316Val) c.1075C>G (p.Leu359Val) c.2077C>G (p.Leu693Val) c.859C>G (p.Leu287Val) c.2131C>G (p.Leu711Val) c.1033C>G (p.Leu345Val) n.6318C>G c.2389C>G (p.Leu797Val) c.2296C>G (p.Leu766Val) c.2215C>G (p.Leu739Val) c.2191C>G (p.Leu731Val) c.2098C>G (p.Leu700Val) c.1324C>G (p.Leu442Val) c.1237C>G (p.Leu413Val) c.1150C>G (p.Leu384Val) c.772-1146C>G (n.772-1146C>G) n.957C>G | ClinVar dbSNP |
| 17 | g.46023971C>T | CA500371390 | MAPT | c.1039C>T (p.Leu347=) c.952C>T (p.Leu318=) c.1126C>T (p.Leu376=) n.352C>T n.310C>T n.544C>T c.2302C>T (p.Leu768=) c.2011C>T (p.Leu671=) c.946C>T (p.Leu316=) c.1075C>T (p.Leu359=) c.2077C>T (p.Leu693=) c.859C>T (p.Leu287=) c.2131C>T (p.Leu711=) c.1033C>T (p.Leu345=) n.6318C>T c.2389C>T (p.Leu797=) c.2296C>T (p.Leu766=) c.2215C>T (p.Leu739=) c.2191C>T (p.Leu731=) c.2098C>T (p.Leu700=) c.1324C>T (p.Leu442=) c.1237C>T (p.Leu413=) c.1150C>T (p.Leu384=) c.772-1146C>T (n.772-1146C>T) n.957C>T | dbSNP gnomAD v4 |
| 17 | g.46023972T>A | CA399984294 | MAPT | c.1040T>A (p.Leu347Gln) c.953T>A (p.Leu318Gln) c.1127T>A (p.Leu376Gln) n.353T>A n.311T>A n.545T>A c.2303T>A (p.Leu768Gln) c.2012T>A (p.Leu671Gln) c.947T>A (p.Leu316Gln) c.1076T>A (p.Leu359Gln) c.2078T>A (p.Leu693Gln) c.860T>A (p.Leu287Gln) c.2132T>A (p.Leu711Gln) c.1034T>A (p.Leu345Gln) n.6319T>A c.2390T>A (p.Leu797Gln) c.2297T>A (p.Leu766Gln) c.2216T>A (p.Leu739Gln) c.2192T>A (p.Leu731Gln) c.2099T>A (p.Leu700Gln) c.1325T>A (p.Leu442Gln) c.1238T>A (p.Leu413Gln) c.1151T>A (p.Leu384Gln) c.772-1145T>A (n.772-1145T>A) n.958T>A | gnomAD v4 |
| 17 | g.46023972T>C | CA399984295 | MAPT | c.1040T>C (p.Leu347Pro) c.953T>C (p.Leu318Pro) c.1127T>C (p.Leu376Pro) n.353T>C n.311T>C n.545T>C c.2303T>C (p.Leu768Pro) c.2012T>C (p.Leu671Pro) c.947T>C (p.Leu316Pro) c.1076T>C (p.Leu359Pro) c.2078T>C (p.Leu693Pro) c.860T>C (p.Leu287Pro) c.2132T>C (p.Leu711Pro) c.1034T>C (p.Leu345Pro) n.6319T>C c.2390T>C (p.Leu797Pro) c.2297T>C (p.Leu766Pro) c.2216T>C (p.Leu739Pro) c.2192T>C (p.Leu731Pro) c.2099T>C (p.Leu700Pro) c.1325T>C (p.Leu442Pro) c.1238T>C (p.Leu413Pro) c.1151T>C (p.Leu384Pro) c.772-1145T>C (n.772-1145T>C) n.958T>C | |
| 17 | g.46023972T>G | CA399984296 | MAPT | c.1040T>G (p.Leu347Arg) c.953T>G (p.Leu318Arg) c.1127T>G (p.Leu376Arg) n.353T>G n.311T>G n.545T>G c.2303T>G (p.Leu768Arg) c.2012T>G (p.Leu671Arg) c.947T>G (p.Leu316Arg) c.1076T>G (p.Leu359Arg) c.2078T>G (p.Leu693Arg) c.860T>G (p.Leu287Arg) c.2132T>G (p.Leu711Arg) c.1034T>G (p.Leu345Arg) n.6319T>G c.2390T>G (p.Leu797Arg) c.2297T>G (p.Leu766Arg) c.2216T>G (p.Leu739Arg) c.2192T>G (p.Leu731Arg) c.2099T>G (p.Leu700Arg) c.1325T>G (p.Leu442Arg) c.1238T>G (p.Leu413Arg) c.1151T>G (p.Leu384Arg) c.772-1145T>G (n.772-1145T>G) n.958T>G | |
| 17 | g.46023973G>A | CA500371393 | MAPT | c.1041G>A (p.Leu347=) c.954G>A (p.Leu318=) c.1128G>A (p.Leu376=) n.354G>A n.312G>A n.546G>A c.2304G>A (p.Leu768=) c.2013G>A (p.Leu671=) c.948G>A (p.Leu316=) c.1077G>A (p.Leu359=) c.2079G>A (p.Leu693=) c.861G>A (p.Leu287=) c.2133G>A (p.Leu711=) c.1035G>A (p.Leu345=) n.6320G>A c.2391G>A (p.Leu797=) c.2298G>A (p.Leu766=) c.2217G>A (p.Leu739=) c.2193G>A (p.Leu731=) c.2100G>A (p.Leu700=) c.1326G>A (p.Leu442=) c.1239G>A (p.Leu413=) c.1152G>A (p.Leu384=) c.772-1144G>A (n.772-1144G>A) n.959G>A | |
| 17 | g.46023973G>C | CA500371392 | MAPT | c.1041G>C (p.Leu347=) c.954G>C (p.Leu318=) c.1128G>C (p.Leu376=) n.354G>C n.312G>C n.546G>C c.2304G>C (p.Leu768=) c.2013G>C (p.Leu671=) c.948G>C (p.Leu316=) c.1077G>C (p.Leu359=) c.2079G>C (p.Leu693=) c.861G>C (p.Leu287=) c.2133G>C (p.Leu711=) c.1035G>C (p.Leu345=) n.6320G>C c.2391G>C (p.Leu797=) c.2298G>C (p.Leu766=) c.2217G>C (p.Leu739=) c.2193G>C (p.Leu731=) c.2100G>C (p.Leu700=) c.1326G>C (p.Leu442=) c.1239G>C (p.Leu413=) c.1152G>C (p.Leu384=) c.772-1144G>C (n.772-1144G>C) n.959G>C | |
| 17 | g.46023973G>T | CA500371391 | MAPT | c.1041G>T (p.Leu347=) c.954G>T (p.Leu318=) c.1128G>T (p.Leu376=) n.354G>T n.312G>T n.546G>T c.2304G>T (p.Leu768=) c.2013G>T (p.Leu671=) c.948G>T (p.Leu316=) c.1077G>T (p.Leu359=) c.2079G>T (p.Leu693=) c.861G>T (p.Leu287=) c.2133G>T (p.Leu711=) c.1035G>T (p.Leu345=) n.6320G>T c.2391G>T (p.Leu797=) c.2298G>T (p.Leu766=) c.2217G>T (p.Leu739=) c.2193G>T (p.Leu731=) c.2100G>T (p.Leu700=) c.1326G>T (p.Leu442=) c.1239G>T (p.Leu413=) c.1152G>T (p.Leu384=) c.772-1144G>T (n.772-1144G>T) n.959G>T | |
| 17 | g.46023974A>C | CA399984299 | MAPT | c.1042A>C (p.Thr348Pro) c.955A>C (p.Thr319Pro) c.1129A>C (p.Thr377Pro) n.355A>C n.313A>C n.547A>C c.2305A>C (p.Thr769Pro) c.2014A>C (p.Thr672Pro) c.949A>C (p.Thr317Pro) c.1078A>C (p.Thr360Pro) c.2080A>C (p.Thr694Pro) c.862A>C (p.Thr288Pro) c.2134A>C (p.Thr712Pro) c.1036A>C (p.Thr346Pro) n.6321A>C c.2392A>C (p.Thr798Pro) c.2299A>C (p.Thr767Pro) c.2218A>C (p.Thr740Pro) c.2194A>C (p.Thr732Pro) c.2101A>C (p.Thr701Pro) c.1327A>C (p.Thr443Pro) c.1240A>C (p.Thr414Pro) c.1153A>C (p.Thr385Pro) c.772-1143A>C (n.772-1143A>C) n.960A>C | |
| 17 | g.46023974A>G | CA399984298 | MAPT | c.1042A>G (p.Thr348Ala) c.955A>G (p.Thr319Ala) c.1129A>G (p.Thr377Ala) n.355A>G n.313A>G n.547A>G c.2305A>G (p.Thr769Ala) c.2014A>G (p.Thr672Ala) c.949A>G (p.Thr317Ala) c.1078A>G (p.Thr360Ala) c.2080A>G (p.Thr694Ala) c.862A>G (p.Thr288Ala) c.2134A>G (p.Thr712Ala) c.1036A>G (p.Thr346Ala) n.6321A>G c.2392A>G (p.Thr798Ala) c.2299A>G (p.Thr767Ala) c.2218A>G (p.Thr740Ala) c.2194A>G (p.Thr732Ala) c.2101A>G (p.Thr701Ala) c.1327A>G (p.Thr443Ala) c.1240A>G (p.Thr414Ala) c.1153A>G (p.Thr385Ala) c.772-1143A>G (n.772-1143A>G) n.960A>G | |
| 17 | g.46023974A>T | CA399984297 | MAPT | c.1042A>T (p.Thr348Ser) c.955A>T (p.Thr319Ser) c.1129A>T (p.Thr377Ser) n.355A>T n.313A>T n.547A>T c.2305A>T (p.Thr769Ser) c.2014A>T (p.Thr672Ser) c.949A>T (p.Thr317Ser) c.1078A>T (p.Thr360Ser) c.2080A>T (p.Thr694Ser) c.862A>T (p.Thr288Ser) c.2134A>T (p.Thr712Ser) c.1036A>T (p.Thr346Ser) n.6321A>T c.2392A>T (p.Thr798Ser) c.2299A>T (p.Thr767Ser) c.2218A>T (p.Thr740Ser) c.2194A>T (p.Thr732Ser) c.2101A>T (p.Thr701Ser) c.1327A>T (p.Thr443Ser) c.1240A>T (p.Thr414Ser) c.1153A>T (p.Thr385Ser) c.772-1143A>T (n.772-1143A>T) n.960A>T | |
| 17 | g.46023975C>A | CA399984300 | MAPT | c.1043C>A (p.Thr348Asn) c.956C>A (p.Thr319Asn) c.1130C>A (p.Thr377Asn) n.356C>A n.314C>A n.548C>A c.2306C>A (p.Thr769Asn) c.2015C>A (p.Thr672Asn) c.950C>A (p.Thr317Asn) c.1079C>A (p.Thr360Asn) c.2081C>A (p.Thr694Asn) c.863C>A (p.Thr288Asn) c.2135C>A (p.Thr712Asn) c.1037C>A (p.Thr346Asn) n.6322C>A c.2393C>A (p.Thr798Asn) c.2300C>A (p.Thr767Asn) c.2219C>A (p.Thr740Asn) c.2195C>A (p.Thr732Asn) c.2102C>A (p.Thr701Asn) c.1328C>A (p.Thr443Asn) c.1241C>A (p.Thr414Asn) c.1154C>A (p.Thr385Asn) c.772-1142C>A (n.772-1142C>A) n.961C>A | |
| 17 | g.46023975C>G | CA399984302 | MAPT | c.1043C>G (p.Thr348Ser) c.956C>G (p.Thr319Ser) c.1130C>G (p.Thr377Ser) n.356C>G n.314C>G n.548C>G c.2306C>G (p.Thr769Ser) c.2015C>G (p.Thr672Ser) c.950C>G (p.Thr317Ser) c.1079C>G (p.Thr360Ser) c.2081C>G (p.Thr694Ser) c.863C>G (p.Thr288Ser) c.2135C>G (p.Thr712Ser) c.1037C>G (p.Thr346Ser) n.6322C>G c.2393C>G (p.Thr798Ser) c.2300C>G (p.Thr767Ser) c.2219C>G (p.Thr740Ser) c.2195C>G (p.Thr732Ser) c.2102C>G (p.Thr701Ser) c.1328C>G (p.Thr443Ser) c.1241C>G (p.Thr414Ser) c.1154C>G (p.Thr385Ser) c.772-1142C>G (n.772-1142C>G) n.961C>G | |
| 17 | g.46023975C>T | CA399984301 | MAPT | c.1043C>T (p.Thr348Ile) c.956C>T (p.Thr319Ile) c.1130C>T (p.Thr377Ile) n.356C>T n.314C>T n.548C>T c.2306C>T (p.Thr769Ile) c.2015C>T (p.Thr672Ile) c.950C>T (p.Thr317Ile) c.1079C>T (p.Thr360Ile) c.2081C>T (p.Thr694Ile) c.863C>T (p.Thr288Ile) c.2135C>T (p.Thr712Ile) c.1037C>T (p.Thr346Ile) n.6322C>T c.2393C>T (p.Thr798Ile) c.2300C>T (p.Thr767Ile) c.2219C>T (p.Thr740Ile) c.2195C>T (p.Thr732Ile) c.2102C>T (p.Thr701Ile) c.1328C>T (p.Thr443Ile) c.1241C>T (p.Thr414Ile) c.1154C>T (p.Thr385Ile) c.772-1142C>T (n.772-1142C>T) n.961C>T | |
| 17 | g.46023976C>A | CA500371395 | MAPT | c.1044C>A (p.Thr348=) c.957C>A (p.Thr319=) c.1131C>A (p.Thr377=) n.357C>A n.315C>A n.549C>A c.2307C>A (p.Thr769=) c.2016C>A (p.Thr672=) c.951C>A (p.Thr317=) c.1080C>A (p.Thr360=) c.2082C>A (p.Thr694=) c.864C>A (p.Thr288=) c.2136C>A (p.Thr712=) c.1038C>A (p.Thr346=) n.6323C>A c.2394C>A (p.Thr798=) c.2301C>A (p.Thr767=) c.2220C>A (p.Thr740=) c.2196C>A (p.Thr732=) c.2103C>A (p.Thr701=) c.1329C>A (p.Thr443=) c.1242C>A (p.Thr414=) c.1155C>A (p.Thr385=) c.772-1141C>A (n.772-1141C>A) n.962C>A | dbSNP |
| 17 | g.46023976C= | CA2262106902 | MAPT | c.1044C= (p.Thr348=) c.957C= (p.Thr319=) c.1131C= (p.Thr377=) n.357C= n.315C= n.549C= c.2307C= (p.Thr769=) c.2016C= (p.Thr672=) c.951C= (p.Thr317=) c.1080C= (p.Thr360=) c.2082C= (p.Thr694=) c.864C= (p.Thr288=) c.2136C= (p.Thr712=) c.1038C= (p.Thr346=) n.6323C= c.2394C= (p.Thr798=) c.2301C= (p.Thr767=) c.2220C= (p.Thr740=) c.2196C= (p.Thr732=) c.2103C= (p.Thr701=) c.1329C= (p.Thr443=) c.1242C= (p.Thr414=) c.1155C= (p.Thr385=) c.772-1141C= (n.772-1141C=) n.962C= | |
| 17 | g.46023976C>G | CA500371396 | MAPT | c.1044C>G (p.Thr348=) c.957C>G (p.Thr319=) c.1131C>G (p.Thr377=) n.357C>G n.315C>G n.549C>G c.2307C>G (p.Thr769=) c.2016C>G (p.Thr672=) c.951C>G (p.Thr317=) c.1080C>G (p.Thr360=) c.2082C>G (p.Thr694=) c.864C>G (p.Thr288=) c.2136C>G (p.Thr712=) c.1038C>G (p.Thr346=) n.6323C>G c.2394C>G (p.Thr798=) c.2301C>G (p.Thr767=) c.2220C>G (p.Thr740=) c.2196C>G (p.Thr732=) c.2103C>G (p.Thr701=) c.1329C>G (p.Thr443=) c.1242C>G (p.Thr414=) c.1155C>G (p.Thr385=) c.772-1141C>G (n.772-1141C>G) n.962C>G |