Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
17 | g.46023976C>T | CA500371394 | MAPT | c.1044C>T (p.Thr348=) c.957C>T (p.Thr319=) c.1131C>T (p.Thr377=) n.357C>T n.315C>T n.549C>T c.2307C>T (p.Thr769=) c.2016C>T (p.Thr672=) c.951C>T (p.Thr317=) c.1080C>T (p.Thr360=) c.2082C>T (p.Thr694=) c.864C>T (p.Thr288=) c.2136C>T (p.Thr712=) c.1038C>T (p.Thr346=) n.6323C>T c.2394C>T (p.Thr798=) c.2301C>T (p.Thr767=) c.2220C>T (p.Thr740=) c.2196C>T (p.Thr732=) c.2103C>T (p.Thr701=) c.1329C>T (p.Thr443=) c.1242C>T (p.Thr414=) c.1155C>T (p.Thr385=) c.772-1141C>T (n.772-1141C>T) n.962C>T | |
17 | g.46023977T>A | CA399984303 | MAPT | c.1045T>A (p.Phe349Ile) c.958T>A (p.Phe320Ile) c.1132T>A (p.Phe378Ile) n.358T>A n.316T>A n.550T>A c.2308T>A (p.Phe770Ile) c.2017T>A (p.Phe673Ile) c.952T>A (p.Phe318Ile) c.1081T>A (p.Phe361Ile) c.2083T>A (p.Phe695Ile) c.865T>A (p.Phe289Ile) c.2137T>A (p.Phe713Ile) c.1039T>A (p.Phe347Ile) n.6324T>A c.2395T>A (p.Phe799Ile) c.2302T>A (p.Phe768Ile) c.2221T>A (p.Phe741Ile) c.2197T>A (p.Phe733Ile) c.2104T>A (p.Phe702Ile) c.1330T>A (p.Phe444Ile) c.1243T>A (p.Phe415Ile) c.1156T>A (p.Phe386Ile) c.772-1140T>A (n.772-1140T>A) n.963T>A | |
17 | g.46023977T>C | CA399984305 | MAPT | c.1045T>C (p.Phe349Leu) c.958T>C (p.Phe320Leu) c.1132T>C (p.Phe378Leu) n.358T>C n.316T>C n.550T>C c.2308T>C (p.Phe770Leu) c.2017T>C (p.Phe673Leu) c.952T>C (p.Phe318Leu) c.1081T>C (p.Phe361Leu) c.2083T>C (p.Phe695Leu) c.865T>C (p.Phe289Leu) c.2137T>C (p.Phe713Leu) c.1039T>C (p.Phe347Leu) n.6324T>C c.2395T>C (p.Phe799Leu) c.2302T>C (p.Phe768Leu) c.2221T>C (p.Phe741Leu) c.2197T>C (p.Phe733Leu) c.2104T>C (p.Phe702Leu) c.1330T>C (p.Phe444Leu) c.1243T>C (p.Phe415Leu) c.1156T>C (p.Phe386Leu) c.772-1140T>C (n.772-1140T>C) n.963T>C | |
17 | g.46023977T>G | CA399984304 | MAPT | c.1045T>G (p.Phe349Val) c.958T>G (p.Phe320Val) c.1132T>G (p.Phe378Val) n.358T>G n.316T>G n.550T>G c.2308T>G (p.Phe770Val) c.2017T>G (p.Phe673Val) c.952T>G (p.Phe318Val) c.1081T>G (p.Phe361Val) c.2083T>G (p.Phe695Val) c.865T>G (p.Phe289Val) c.2137T>G (p.Phe713Val) c.1039T>G (p.Phe347Val) n.6324T>G c.2395T>G (p.Phe799Val) c.2302T>G (p.Phe768Val) c.2221T>G (p.Phe741Val) c.2197T>G (p.Phe733Val) c.2104T>G (p.Phe702Val) c.1330T>G (p.Phe444Val) c.1243T>G (p.Phe415Val) c.1156T>G (p.Phe386Val) c.772-1140T>G (n.772-1140T>G) n.963T>G | |
17 | g.46023978T>A | CA399984306 | MAPT | c.1046T>A (p.Phe349Tyr) c.959T>A (p.Phe320Tyr) c.1133T>A (p.Phe378Tyr) n.359T>A n.317T>A n.551T>A c.2309T>A (p.Phe770Tyr) c.2018T>A (p.Phe673Tyr) c.953T>A (p.Phe318Tyr) c.1082T>A (p.Phe361Tyr) c.2084T>A (p.Phe695Tyr) c.866T>A (p.Phe289Tyr) c.2138T>A (p.Phe713Tyr) c.1040T>A (p.Phe347Tyr) n.6325T>A c.2396T>A (p.Phe799Tyr) c.2303T>A (p.Phe768Tyr) c.2222T>A (p.Phe741Tyr) c.2198T>A (p.Phe733Tyr) c.2105T>A (p.Phe702Tyr) c.1331T>A (p.Phe444Tyr) c.1244T>A (p.Phe415Tyr) c.1157T>A (p.Phe386Tyr) c.772-1139T>A (n.772-1139T>A) n.964T>A | |
17 | g.46023978T>C | CA399984307 | MAPT | c.1046T>C (p.Phe349Ser) c.959T>C (p.Phe320Ser) c.1133T>C (p.Phe378Ser) n.359T>C n.317T>C n.551T>C c.2309T>C (p.Phe770Ser) c.2018T>C (p.Phe673Ser) c.953T>C (p.Phe318Ser) c.1082T>C (p.Phe361Ser) c.2084T>C (p.Phe695Ser) c.866T>C (p.Phe289Ser) c.2138T>C (p.Phe713Ser) c.1040T>C (p.Phe347Ser) n.6325T>C c.2396T>C (p.Phe799Ser) c.2303T>C (p.Phe768Ser) c.2222T>C (p.Phe741Ser) c.2198T>C (p.Phe733Ser) c.2105T>C (p.Phe702Ser) c.1331T>C (p.Phe444Ser) c.1244T>C (p.Phe415Ser) c.1157T>C (p.Phe386Ser) c.772-1139T>C (n.772-1139T>C) n.964T>C | |
17 | g.46023978T>G | CA399984308 | MAPT | c.1046T>G (p.Phe349Cys) c.959T>G (p.Phe320Cys) c.1133T>G (p.Phe378Cys) n.359T>G n.317T>G n.551T>G c.2309T>G (p.Phe770Cys) c.2018T>G (p.Phe673Cys) c.953T>G (p.Phe318Cys) c.1082T>G (p.Phe361Cys) c.2084T>G (p.Phe695Cys) c.866T>G (p.Phe289Cys) c.2138T>G (p.Phe713Cys) c.1040T>G (p.Phe347Cys) n.6325T>G c.2396T>G (p.Phe799Cys) c.2303T>G (p.Phe768Cys) c.2222T>G (p.Phe741Cys) c.2198T>G (p.Phe733Cys) c.2105T>G (p.Phe702Cys) c.1331T>G (p.Phe444Cys) c.1244T>G (p.Phe415Cys) c.1157T>G (p.Phe386Cys) c.772-1139T>G (n.772-1139T>G) n.964T>G | |
17 | g.46023979C>A | CA399984309 | MAPT | c.1047C>A (p.Phe349Leu) c.960C>A (p.Phe320Leu) c.1134C>A (p.Phe378Leu) n.360C>A n.318C>A n.552C>A c.2310C>A (p.Phe770Leu) c.2019C>A (p.Phe673Leu) c.954C>A (p.Phe318Leu) c.1083C>A (p.Phe361Leu) c.2085C>A (p.Phe695Leu) c.867C>A (p.Phe289Leu) c.2139C>A (p.Phe713Leu) c.1041C>A (p.Phe347Leu) n.6326C>A c.2397C>A (p.Phe799Leu) c.2304C>A (p.Phe768Leu) c.2223C>A (p.Phe741Leu) c.2199C>A (p.Phe733Leu) c.2106C>A (p.Phe702Leu) c.1332C>A (p.Phe444Leu) c.1245C>A (p.Phe415Leu) c.1158C>A (p.Phe386Leu) c.772-1138C>A (n.772-1138C>A) n.965C>A | |
17 | g.46023979C>G | CA399984310 | MAPT | c.1047C>G (p.Phe349Leu) c.960C>G (p.Phe320Leu) c.1134C>G (p.Phe378Leu) n.360C>G n.318C>G n.552C>G c.2310C>G (p.Phe770Leu) c.2019C>G (p.Phe673Leu) c.954C>G (p.Phe318Leu) c.1083C>G (p.Phe361Leu) c.2085C>G (p.Phe695Leu) c.867C>G (p.Phe289Leu) c.2139C>G (p.Phe713Leu) c.1041C>G (p.Phe347Leu) n.6326C>G c.2397C>G (p.Phe799Leu) c.2304C>G (p.Phe768Leu) c.2223C>G (p.Phe741Leu) c.2199C>G (p.Phe733Leu) c.2106C>G (p.Phe702Leu) c.1332C>G (p.Phe444Leu) c.1245C>G (p.Phe415Leu) c.1158C>G (p.Phe386Leu) c.772-1138C>G (n.772-1138C>G) n.965C>G | |
17 | g.46023979C>T | CA500371397 | MAPT | c.1047C>T (p.Phe349=) c.960C>T (p.Phe320=) c.1134C>T (p.Phe378=) n.360C>T n.318C>T n.552C>T c.2310C>T (p.Phe770=) c.2019C>T (p.Phe673=) c.954C>T (p.Phe318=) c.1083C>T (p.Phe361=) c.2085C>T (p.Phe695=) c.867C>T (p.Phe289=) c.2139C>T (p.Phe713=) c.1041C>T (p.Phe347=) n.6326C>T c.2397C>T (p.Phe799=) c.2304C>T (p.Phe768=) c.2223C>T (p.Phe741=) c.2199C>T (p.Phe733=) c.2106C>T (p.Phe702=) c.1332C>T (p.Phe444=) c.1245C>T (p.Phe415=) c.1158C>T (p.Phe386=) c.772-1138C>T (n.772-1138C>T) n.965C>T | |
17 | g.46023980C>A | CA399984311 | MAPT | c.1048C>A (p.Arg350Ser) c.961C>A (p.Arg321Ser) c.1135C>A (p.Arg379Ser) n.361C>A n.319C>A n.553C>A c.2311C>A (p.Arg771Ser) c.2020C>A (p.Arg674Ser) c.955C>A (p.Arg319Ser) c.1084C>A (p.Arg362Ser) c.2086C>A (p.Arg696Ser) c.868C>A (p.Arg290Ser) c.2140C>A (p.Arg714Ser) c.1042C>A (p.Arg348Ser) n.6327C>A c.2398C>A (p.Arg800Ser) c.2305C>A (p.Arg769Ser) c.2224C>A (p.Arg742Ser) c.2200C>A (p.Arg734Ser) c.2107C>A (p.Arg703Ser) c.1333C>A (p.Arg445Ser) c.1246C>A (p.Arg416Ser) c.1159C>A (p.Arg387Ser) c.772-1137C>A (n.772-1137C>A) n.966C>A | |
17 | g.46023980C= | CA2262106903 | MAPT | c.1048C= (p.Arg350=) c.961C= (p.Arg321=) c.1135C= (p.Arg379=) n.361C= n.319C= n.553C= c.2311C= (p.Arg771=) c.2020C= (p.Arg674=) c.955C= (p.Arg319=) c.1084C= (p.Arg362=) c.2086C= (p.Arg696=) c.868C= (p.Arg290=) c.2140C= (p.Arg714=) c.1042C= (p.Arg348=) n.6327C= c.2398C= (p.Arg800=) c.2305C= (p.Arg769=) c.2224C= (p.Arg742=) c.2200C= (p.Arg734=) c.2107C= (p.Arg703=) c.1333C= (p.Arg445=) c.1246C= (p.Arg416=) c.1159C= (p.Arg387=) c.772-1137C= (n.772-1137C=) n.966C= | |
17 | g.46023980C>G | CA399984312 | MAPT | c.1048C>G (p.Arg350Gly) c.961C>G (p.Arg321Gly) c.1135C>G (p.Arg379Gly) n.361C>G n.319C>G n.553C>G c.2311C>G (p.Arg771Gly) c.2020C>G (p.Arg674Gly) c.955C>G (p.Arg319Gly) c.1084C>G (p.Arg362Gly) c.2086C>G (p.Arg696Gly) c.868C>G (p.Arg290Gly) c.2140C>G (p.Arg714Gly) c.1042C>G (p.Arg348Gly) n.6327C>G c.2398C>G (p.Arg800Gly) c.2305C>G (p.Arg769Gly) c.2224C>G (p.Arg742Gly) c.2200C>G (p.Arg734Gly) c.2107C>G (p.Arg703Gly) c.1333C>G (p.Arg445Gly) c.1246C>G (p.Arg416Gly) c.1159C>G (p.Arg387Gly) c.772-1137C>G (n.772-1137C>G) n.966C>G | |
17 | g.46023980C>T | CA8618247 | MAPT | c.1048C>T (p.Arg350Cys) c.961C>T (p.Arg321Cys) c.1135C>T (p.Arg379Cys) n.361C>T n.319C>T n.553C>T c.2311C>T (p.Arg771Cys) c.2020C>T (p.Arg674Cys) c.955C>T (p.Arg319Cys) c.1084C>T (p.Arg362Cys) c.2086C>T (p.Arg696Cys) c.868C>T (p.Arg290Cys) c.2140C>T (p.Arg714Cys) c.1042C>T (p.Arg348Cys) n.6327C>T c.2398C>T (p.Arg800Cys) c.2305C>T (p.Arg769Cys) c.2224C>T (p.Arg742Cys) c.2200C>T (p.Arg734Cys) c.2107C>T (p.Arg703Cys) c.1333C>T (p.Arg445Cys) c.1246C>T (p.Arg416Cys) c.1159C>T (p.Arg387Cys) c.772-1137C>T (n.772-1137C>T) n.966C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.46023981G>A | CA399984313 | MAPT | c.1049G>A (p.Arg350His) c.962G>A (p.Arg321His) c.1136G>A (p.Arg379His) n.362G>A n.320G>A n.554G>A c.2312G>A (p.Arg771His) c.2021G>A (p.Arg674His) c.956G>A (p.Arg319His) c.1085G>A (p.Arg362His) c.2087G>A (p.Arg696His) c.869G>A (p.Arg290His) c.2141G>A (p.Arg714His) c.1043G>A (p.Arg348His) n.6328G>A c.2399G>A (p.Arg800His) c.2306G>A (p.Arg769His) c.2225G>A (p.Arg742His) c.2201G>A (p.Arg734His) c.2108G>A (p.Arg703His) c.1334G>A (p.Arg445His) c.1247G>A (p.Arg416His) c.1160G>A (p.Arg387His) c.772-1136G>A (n.772-1136G>A) n.967G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.46023981G>C | CA399984315 | MAPT | c.1049G>C (p.Arg350Pro) c.962G>C (p.Arg321Pro) c.1136G>C (p.Arg379Pro) n.362G>C n.320G>C n.554G>C c.2312G>C (p.Arg771Pro) c.2021G>C (p.Arg674Pro) c.956G>C (p.Arg319Pro) c.1085G>C (p.Arg362Pro) c.2087G>C (p.Arg696Pro) c.869G>C (p.Arg290Pro) c.2141G>C (p.Arg714Pro) c.1043G>C (p.Arg348Pro) n.6328G>C c.2399G>C (p.Arg800Pro) c.2306G>C (p.Arg769Pro) c.2225G>C (p.Arg742Pro) c.2201G>C (p.Arg734Pro) c.2108G>C (p.Arg703Pro) c.1334G>C (p.Arg445Pro) c.1247G>C (p.Arg416Pro) c.1160G>C (p.Arg387Pro) c.772-1136G>C (n.772-1136G>C) n.967G>C | |
17 | g.46023981G= | CA2262106904 | MAPT | c.1049G= (p.Arg350=) c.962G= (p.Arg321=) c.1136G= (p.Arg379=) n.362G= n.320G= n.554G= c.2312G= (p.Arg771=) c.2021G= (p.Arg674=) c.956G= (p.Arg319=) c.1085G= (p.Arg362=) c.2087G= (p.Arg696=) c.869G= (p.Arg290=) c.2141G= (p.Arg714=) c.1043G= (p.Arg348=) n.6328G= c.2399G= (p.Arg800=) c.2306G= (p.Arg769=) c.2225G= (p.Arg742=) c.2201G= (p.Arg734=) c.2108G= (p.Arg703=) c.1334G= (p.Arg445=) c.1247G= (p.Arg416=) c.1160G= (p.Arg387=) c.772-1136G= (n.772-1136G=) n.967G= | |
17 | g.46023981G>T | CA399984314 | MAPT | c.1049G>T (p.Arg350Leu) c.962G>T (p.Arg321Leu) c.1136G>T (p.Arg379Leu) n.362G>T n.320G>T n.554G>T c.2312G>T (p.Arg771Leu) c.2021G>T (p.Arg674Leu) c.956G>T (p.Arg319Leu) c.1085G>T (p.Arg362Leu) c.2087G>T (p.Arg696Leu) c.869G>T (p.Arg290Leu) c.2141G>T (p.Arg714Leu) c.1043G>T (p.Arg348Leu) n.6328G>T c.2399G>T (p.Arg800Leu) c.2306G>T (p.Arg769Leu) c.2225G>T (p.Arg742Leu) c.2201G>T (p.Arg734Leu) c.2108G>T (p.Arg703Leu) c.1334G>T (p.Arg445Leu) c.1247G>T (p.Arg416Leu) c.1160G>T (p.Arg387Leu) c.772-1136G>T (n.772-1136G>T) n.967G>T | |
17 | g.46023982C>A | CA500371399 | MAPT | c.1050C>A (p.Arg350=) c.963C>A (p.Arg321=) c.1137C>A (p.Arg379=) n.363C>A n.321C>A n.555C>A c.2313C>A (p.Arg771=) c.2022C>A (p.Arg674=) c.957C>A (p.Arg319=) c.1086C>A (p.Arg362=) c.2088C>A (p.Arg696=) c.870C>A (p.Arg290=) c.2142C>A (p.Arg714=) c.1044C>A (p.Arg348=) n.6329C>A c.2400C>A (p.Arg800=) c.2307C>A (p.Arg769=) c.2226C>A (p.Arg742=) c.2202C>A (p.Arg734=) c.2109C>A (p.Arg703=) c.1335C>A (p.Arg445=) c.1248C>A (p.Arg416=) c.1161C>A (p.Arg387=) c.772-1135C>A (n.772-1135C>A) n.968C>A | ClinVar dbSNP gnomAD v4 |
17 | g.46023982C= | CA2262106905 | MAPT | c.1050C= (p.Arg350=) c.963C= (p.Arg321=) c.1137C= (p.Arg379=) n.363C= n.321C= n.555C= c.2313C= (p.Arg771=) c.2022C= (p.Arg674=) c.957C= (p.Arg319=) c.1086C= (p.Arg362=) c.2088C= (p.Arg696=) c.870C= (p.Arg290=) c.2142C= (p.Arg714=) c.1044C= (p.Arg348=) n.6329C= c.2400C= (p.Arg800=) c.2307C= (p.Arg769=) c.2226C= (p.Arg742=) c.2202C= (p.Arg734=) c.2109C= (p.Arg703=) c.1335C= (p.Arg445=) c.1248C= (p.Arg416=) c.1161C= (p.Arg387=) c.772-1135C= (n.772-1135C=) n.968C= | |
17 | g.46023982C>G | CA500371398 | MAPT | c.1050C>G (p.Arg350=) c.963C>G (p.Arg321=) c.1137C>G (p.Arg379=) n.363C>G n.321C>G n.555C>G c.2313C>G (p.Arg771=) c.2022C>G (p.Arg674=) c.957C>G (p.Arg319=) c.1086C>G (p.Arg362=) c.2088C>G (p.Arg696=) c.870C>G (p.Arg290=) c.2142C>G (p.Arg714=) c.1044C>G (p.Arg348=) n.6329C>G c.2400C>G (p.Arg800=) c.2307C>G (p.Arg769=) c.2226C>G (p.Arg742=) c.2202C>G (p.Arg734=) c.2109C>G (p.Arg703=) c.1335C>G (p.Arg445=) c.1248C>G (p.Arg416=) c.1161C>G (p.Arg387=) c.772-1135C>G (n.772-1135C>G) n.968C>G | |
17 | g.46023982C>T | CA8618248 | MAPT | c.1050C>T (p.Arg350=) c.963C>T (p.Arg321=) c.1137C>T (p.Arg379=) n.363C>T n.321C>T n.555C>T c.2313C>T (p.Arg771=) c.2022C>T (p.Arg674=) c.957C>T (p.Arg319=) c.1086C>T (p.Arg362=) c.2088C>T (p.Arg696=) c.870C>T (p.Arg290=) c.2142C>T (p.Arg714=) c.1044C>T (p.Arg348=) n.6329C>T c.2400C>T (p.Arg800=) c.2307C>T (p.Arg769=) c.2226C>T (p.Arg742=) c.2202C>T (p.Arg734=) c.2109C>T (p.Arg703=) c.1335C>T (p.Arg445=) c.1248C>T (p.Arg416=) c.1161C>T (p.Arg387=) c.772-1135C>T (n.772-1135C>T) n.968C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46023983G>A | CA399984316 | MAPT | c.1051G>A (p.Glu351Lys) c.964G>A (p.Glu322Lys) c.1138G>A (p.Glu380Lys) n.364G>A n.322G>A n.556G>A c.2314G>A (p.Glu772Lys) c.2023G>A (p.Glu675Lys) c.958G>A (p.Glu320Lys) c.1087G>A (p.Glu363Lys) c.2089G>A (p.Glu697Lys) c.871G>A (p.Glu291Lys) c.2143G>A (p.Glu715Lys) c.1045G>A (p.Glu349Lys) n.6330G>A c.2401G>A (p.Glu801Lys) c.2308G>A (p.Glu770Lys) c.2227G>A (p.Glu743Lys) c.2203G>A (p.Glu735Lys) c.2110G>A (p.Glu704Lys) c.1336G>A (p.Glu446Lys) c.1249G>A (p.Glu417Lys) c.1162G>A (p.Glu388Lys) c.772-1134G>A (n.772-1134G>A) n.969G>A | gnomAD v4 |
17 | g.46023983G>C | CA399984317 | MAPT | c.1051G>C (p.Glu351Gln) c.964G>C (p.Glu322Gln) c.1138G>C (p.Glu380Gln) n.364G>C n.322G>C n.556G>C c.2314G>C (p.Glu772Gln) c.2023G>C (p.Glu675Gln) c.958G>C (p.Glu320Gln) c.1087G>C (p.Glu363Gln) c.2089G>C (p.Glu697Gln) c.871G>C (p.Glu291Gln) c.2143G>C (p.Glu715Gln) c.1045G>C (p.Glu349Gln) n.6330G>C c.2401G>C (p.Glu801Gln) c.2308G>C (p.Glu770Gln) c.2227G>C (p.Glu743Gln) c.2203G>C (p.Glu735Gln) c.2110G>C (p.Glu704Gln) c.1336G>C (p.Glu446Gln) c.1249G>C (p.Glu417Gln) c.1162G>C (p.Glu388Gln) c.772-1134G>C (n.772-1134G>C) n.969G>C | |
17 | g.46023983G>T | CA399984318 | MAPT | c.1051G>T (p.Glu351Ter) c.964G>T (p.Glu322Ter) c.1138G>T (p.Glu380Ter) n.364G>T n.322G>T n.556G>T c.2314G>T (p.Glu772Ter) c.2023G>T (p.Glu675Ter) c.958G>T (p.Glu320Ter) c.1087G>T (p.Glu363Ter) c.2089G>T (p.Glu697Ter) c.871G>T (p.Glu291Ter) c.2143G>T (p.Glu715Ter) c.1045G>T (p.Glu349Ter) n.6330G>T c.2401G>T (p.Glu801Ter) c.2308G>T (p.Glu770Ter) c.2227G>T (p.Glu743Ter) c.2203G>T (p.Glu735Ter) c.2110G>T (p.Glu704Ter) c.1336G>T (p.Glu446Ter) c.1249G>T (p.Glu417Ter) c.1162G>T (p.Glu388Ter) c.772-1134G>T (n.772-1134G>T) n.969G>T | |
17 | g.46023984A>C | CA399984319 | MAPT | c.1052A>C (p.Glu351Ala) c.965A>C (p.Glu322Ala) c.1139A>C (p.Glu380Ala) n.365A>C n.323A>C n.557A>C c.2315A>C (p.Glu772Ala) c.2024A>C (p.Glu675Ala) c.959A>C (p.Glu320Ala) c.1088A>C (p.Glu363Ala) c.2090A>C (p.Glu697Ala) c.872A>C (p.Glu291Ala) c.2144A>C (p.Glu715Ala) c.1046A>C (p.Glu349Ala) n.6331A>C c.2402A>C (p.Glu801Ala) c.2309A>C (p.Glu770Ala) c.2228A>C (p.Glu743Ala) c.2204A>C (p.Glu735Ala) c.2111A>C (p.Glu704Ala) c.1337A>C (p.Glu446Ala) c.1250A>C (p.Glu417Ala) c.1163A>C (p.Glu388Ala) c.772-1133A>C (n.772-1133A>C) n.970A>C | |
17 | g.46023984A>G | CA399984321 | MAPT | c.1052A>G (p.Glu351Gly) c.965A>G (p.Glu322Gly) c.1139A>G (p.Glu380Gly) n.365A>G n.323A>G n.557A>G c.2315A>G (p.Glu772Gly) c.2024A>G (p.Glu675Gly) c.959A>G (p.Glu320Gly) c.1088A>G (p.Glu363Gly) c.2090A>G (p.Glu697Gly) c.872A>G (p.Glu291Gly) c.2144A>G (p.Glu715Gly) c.1046A>G (p.Glu349Gly) n.6331A>G c.2402A>G (p.Glu801Gly) c.2309A>G (p.Glu770Gly) c.2228A>G (p.Glu743Gly) c.2204A>G (p.Glu735Gly) c.2111A>G (p.Glu704Gly) c.1337A>G (p.Glu446Gly) c.1250A>G (p.Glu417Gly) c.1163A>G (p.Glu388Gly) c.772-1133A>G (n.772-1133A>G) n.970A>G | |
17 | g.46023984A>T | CA399984320 | MAPT | c.1052A>T (p.Glu351Val) c.965A>T (p.Glu322Val) c.1139A>T (p.Glu380Val) n.365A>T n.323A>T n.557A>T c.2315A>T (p.Glu772Val) c.2024A>T (p.Glu675Val) c.959A>T (p.Glu320Val) c.1088A>T (p.Glu363Val) c.2090A>T (p.Glu697Val) c.872A>T (p.Glu291Val) c.2144A>T (p.Glu715Val) c.1046A>T (p.Glu349Val) n.6331A>T c.2402A>T (p.Glu801Val) c.2309A>T (p.Glu770Val) c.2228A>T (p.Glu743Val) c.2204A>T (p.Glu735Val) c.2111A>T (p.Glu704Val) c.1337A>T (p.Glu446Val) c.1250A>T (p.Glu417Val) c.1163A>T (p.Glu388Val) c.772-1133A>T (n.772-1133A>T) n.970A>T | |
17 | g.46023985G>A | CA500371400 | MAPT | c.1053G>A (p.Glu351=) c.966G>A (p.Glu322=) c.1140G>A (p.Glu380=) n.366G>A n.324G>A n.558G>A c.2316G>A (p.Glu772=) c.2025G>A (p.Glu675=) c.960G>A (p.Glu320=) c.1089G>A (p.Glu363=) c.2091G>A (p.Glu697=) c.873G>A (p.Glu291=) c.2145G>A (p.Glu715=) c.1047G>A (p.Glu349=) n.6332G>A c.2403G>A (p.Glu801=) c.2310G>A (p.Glu770=) c.2229G>A (p.Glu743=) c.2205G>A (p.Glu735=) c.2112G>A (p.Glu704=) c.1338G>A (p.Glu446=) c.1251G>A (p.Glu417=) c.1164G>A (p.Glu388=) c.772-1132G>A (n.772-1132G>A) n.971G>A | |
17 | g.46023985G>C | CA399984322 | MAPT | c.1053G>C (p.Glu351Asp) c.966G>C (p.Glu322Asp) c.1140G>C (p.Glu380Asp) n.366G>C n.324G>C n.558G>C c.2316G>C (p.Glu772Asp) c.2025G>C (p.Glu675Asp) c.960G>C (p.Glu320Asp) c.1089G>C (p.Glu363Asp) c.2091G>C (p.Glu697Asp) c.873G>C (p.Glu291Asp) c.2145G>C (p.Glu715Asp) c.1047G>C (p.Glu349Asp) n.6332G>C c.2403G>C (p.Glu801Asp) c.2310G>C (p.Glu770Asp) c.2229G>C (p.Glu743Asp) c.2205G>C (p.Glu735Asp) c.2112G>C (p.Glu704Asp) c.1338G>C (p.Glu446Asp) c.1251G>C (p.Glu417Asp) c.1164G>C (p.Glu388Asp) c.772-1132G>C (n.772-1132G>C) n.971G>C | |
17 | g.46023985G>T | CA399984323 | MAPT | c.1053G>T (p.Glu351Asp) c.966G>T (p.Glu322Asp) c.1140G>T (p.Glu380Asp) n.366G>T n.324G>T n.558G>T c.2316G>T (p.Glu772Asp) c.2025G>T (p.Glu675Asp) c.960G>T (p.Glu320Asp) c.1089G>T (p.Glu363Asp) c.2091G>T (p.Glu697Asp) c.873G>T (p.Glu291Asp) c.2145G>T (p.Glu715Asp) c.1047G>T (p.Glu349Asp) n.6332G>T c.2403G>T (p.Glu801Asp) c.2310G>T (p.Glu770Asp) c.2229G>T (p.Glu743Asp) c.2205G>T (p.Glu735Asp) c.2112G>T (p.Glu704Asp) c.1338G>T (p.Glu446Asp) c.1251G>T (p.Glu417Asp) c.1164G>T (p.Glu388Asp) c.772-1132G>T (n.772-1132G>T) n.971G>T | |
17 | g.46023986A>C | CA399984324 | MAPT | c.1054A>C (p.Asn352His) c.967A>C (p.Asn323His) c.1141A>C (p.Asn381His) n.367A>C n.325A>C n.559A>C c.2317A>C (p.Asn773His) c.2026A>C (p.Asn676His) c.961A>C (p.Asn321His) c.1090A>C (p.Asn364His) c.2092A>C (p.Asn698His) c.874A>C (p.Asn292His) c.2146A>C (p.Asn716His) c.1048A>C (p.Asn350His) n.6333A>C c.2404A>C (p.Asn802His) c.2311A>C (p.Asn771His) c.2230A>C (p.Asn744His) c.2206A>C (p.Asn736His) c.2113A>C (p.Asn705His) c.1339A>C (p.Asn447His) c.1252A>C (p.Asn418His) c.1165A>C (p.Asn389His) c.772-1131A>C (n.772-1131A>C) n.972A>C | |
17 | g.46023986A>G | CA399984325 | MAPT | c.1054A>G (p.Asn352Asp) c.967A>G (p.Asn323Asp) c.1141A>G (p.Asn381Asp) n.367A>G n.325A>G n.559A>G c.2317A>G (p.Asn773Asp) c.2026A>G (p.Asn676Asp) c.961A>G (p.Asn321Asp) c.1090A>G (p.Asn364Asp) c.2092A>G (p.Asn698Asp) c.874A>G (p.Asn292Asp) c.2146A>G (p.Asn716Asp) c.1048A>G (p.Asn350Asp) n.6333A>G c.2404A>G (p.Asn802Asp) c.2311A>G (p.Asn771Asp) c.2230A>G (p.Asn744Asp) c.2206A>G (p.Asn736Asp) c.2113A>G (p.Asn705Asp) c.1339A>G (p.Asn447Asp) c.1252A>G (p.Asn418Asp) c.1165A>G (p.Asn389Asp) c.772-1131A>G (n.772-1131A>G) n.972A>G | |
17 | g.46023986A>T | CA399984326 | MAPT | c.1054A>T (p.Asn352Tyr) c.967A>T (p.Asn323Tyr) c.1141A>T (p.Asn381Tyr) n.367A>T n.325A>T n.559A>T c.2317A>T (p.Asn773Tyr) c.2026A>T (p.Asn676Tyr) c.961A>T (p.Asn321Tyr) c.1090A>T (p.Asn364Tyr) c.2092A>T (p.Asn698Tyr) c.874A>T (p.Asn292Tyr) c.2146A>T (p.Asn716Tyr) c.1048A>T (p.Asn350Tyr) n.6333A>T c.2404A>T (p.Asn802Tyr) c.2311A>T (p.Asn771Tyr) c.2230A>T (p.Asn744Tyr) c.2206A>T (p.Asn736Tyr) c.2113A>T (p.Asn705Tyr) c.1339A>T (p.Asn447Tyr) c.1252A>T (p.Asn418Tyr) c.1165A>T (p.Asn389Tyr) c.772-1131A>T (n.772-1131A>T) n.972A>T | |
17 | g.46023987A>C | CA399984327 | MAPT | c.1055A>C (p.Asn352Thr) c.968A>C (p.Asn323Thr) c.1142A>C (p.Asn381Thr) n.368A>C n.326A>C n.560A>C c.2318A>C (p.Asn773Thr) c.2027A>C (p.Asn676Thr) c.962A>C (p.Asn321Thr) c.1091A>C (p.Asn364Thr) c.2093A>C (p.Asn698Thr) c.875A>C (p.Asn292Thr) c.2147A>C (p.Asn716Thr) c.1049A>C (p.Asn350Thr) n.6334A>C c.2405A>C (p.Asn802Thr) c.2312A>C (p.Asn771Thr) c.2231A>C (p.Asn744Thr) c.2207A>C (p.Asn736Thr) c.2114A>C (p.Asn705Thr) c.1340A>C (p.Asn447Thr) c.1253A>C (p.Asn418Thr) c.1166A>C (p.Asn389Thr) c.772-1130A>C (n.772-1130A>C) n.973A>C | |
17 | g.46023987A>G | CA399984328 | MAPT | c.1055A>G (p.Asn352Ser) c.968A>G (p.Asn323Ser) c.1142A>G (p.Asn381Ser) n.368A>G n.326A>G n.560A>G c.2318A>G (p.Asn773Ser) c.2027A>G (p.Asn676Ser) c.962A>G (p.Asn321Ser) c.1091A>G (p.Asn364Ser) c.2093A>G (p.Asn698Ser) c.875A>G (p.Asn292Ser) c.2147A>G (p.Asn716Ser) c.1049A>G (p.Asn350Ser) n.6334A>G c.2405A>G (p.Asn802Ser) c.2312A>G (p.Asn771Ser) c.2231A>G (p.Asn744Ser) c.2207A>G (p.Asn736Ser) c.2114A>G (p.Asn705Ser) c.1340A>G (p.Asn447Ser) c.1253A>G (p.Asn418Ser) c.1166A>G (p.Asn389Ser) c.772-1130A>G (n.772-1130A>G) n.973A>G | |
17 | g.46023987A>T | CA399984329 | MAPT | c.1055A>T (p.Asn352Ile) c.968A>T (p.Asn323Ile) c.1142A>T (p.Asn381Ile) n.368A>T n.326A>T n.560A>T c.2318A>T (p.Asn773Ile) c.2027A>T (p.Asn676Ile) c.962A>T (p.Asn321Ile) c.1091A>T (p.Asn364Ile) c.2093A>T (p.Asn698Ile) c.875A>T (p.Asn292Ile) c.2147A>T (p.Asn716Ile) c.1049A>T (p.Asn350Ile) n.6334A>T c.2405A>T (p.Asn802Ile) c.2312A>T (p.Asn771Ile) c.2231A>T (p.Asn744Ile) c.2207A>T (p.Asn736Ile) c.2114A>T (p.Asn705Ile) c.1340A>T (p.Asn447Ile) c.1253A>T (p.Asn418Ile) c.1166A>T (p.Asn389Ile) c.772-1130A>T (n.772-1130A>T) n.973A>T | |
17 | g.46023988C>A | CA399984330 | MAPT | c.1056C>A (p.Asn352Lys) c.969C>A (p.Asn323Lys) c.1143C>A (p.Asn381Lys) n.369C>A n.327C>A n.561C>A c.2319C>A (p.Asn773Lys) c.2028C>A (p.Asn676Lys) c.963C>A (p.Asn321Lys) c.1092C>A (p.Asn364Lys) c.2094C>A (p.Asn698Lys) c.876C>A (p.Asn292Lys) c.2148C>A (p.Asn716Lys) c.1050C>A (p.Asn350Lys) n.6335C>A c.2406C>A (p.Asn802Lys) c.2313C>A (p.Asn771Lys) c.2232C>A (p.Asn744Lys) c.2208C>A (p.Asn736Lys) c.2115C>A (p.Asn705Lys) c.1341C>A (p.Asn447Lys) c.1254C>A (p.Asn418Lys) c.1167C>A (p.Asn389Lys) c.772-1129C>A (n.772-1129C>A) n.974C>A | |
17 | g.46023988C= | CA2262106906 | MAPT | c.1056C= (p.Asn352=) c.969C= (p.Asn323=) c.1143C= (p.Asn381=) n.369C= n.327C= n.561C= c.2319C= (p.Asn773=) c.2028C= (p.Asn676=) c.963C= (p.Asn321=) c.1092C= (p.Asn364=) c.2094C= (p.Asn698=) c.876C= (p.Asn292=) c.2148C= (p.Asn716=) c.1050C= (p.Asn350=) n.6335C= c.2406C= (p.Asn802=) c.2313C= (p.Asn771=) c.2232C= (p.Asn744=) c.2208C= (p.Asn736=) c.2115C= (p.Asn705=) c.1341C= (p.Asn447=) c.1254C= (p.Asn418=) c.1167C= (p.Asn389=) c.772-1129C= (n.772-1129C=) n.974C= | |
17 | g.46023988C>G | CA399984331 | MAPT | c.1056C>G (p.Asn352Lys) c.969C>G (p.Asn323Lys) c.1143C>G (p.Asn381Lys) n.369C>G n.327C>G n.561C>G c.2319C>G (p.Asn773Lys) c.2028C>G (p.Asn676Lys) c.963C>G (p.Asn321Lys) c.1092C>G (p.Asn364Lys) c.2094C>G (p.Asn698Lys) c.876C>G (p.Asn292Lys) c.2148C>G (p.Asn716Lys) c.1050C>G (p.Asn350Lys) n.6335C>G c.2406C>G (p.Asn802Lys) c.2313C>G (p.Asn771Lys) c.2232C>G (p.Asn744Lys) c.2208C>G (p.Asn736Lys) c.2115C>G (p.Asn705Lys) c.1341C>G (p.Asn447Lys) c.1254C>G (p.Asn418Lys) c.1167C>G (p.Asn389Lys) c.772-1129C>G (n.772-1129C>G) n.974C>G | |
17 | g.46023988C>T | CA8618249 | MAPT | c.1056C>T (p.Asn352=) c.969C>T (p.Asn323=) c.1143C>T (p.Asn381=) n.369C>T n.327C>T n.561C>T c.2319C>T (p.Asn773=) c.2028C>T (p.Asn676=) c.963C>T (p.Asn321=) c.1092C>T (p.Asn364=) c.2094C>T (p.Asn698=) c.876C>T (p.Asn292=) c.2148C>T (p.Asn716=) c.1050C>T (p.Asn350=) n.6335C>T c.2406C>T (p.Asn802=) c.2313C>T (p.Asn771=) c.2232C>T (p.Asn744=) c.2208C>T (p.Asn736=) c.2115C>T (p.Asn705=) c.1341C>T (p.Asn447=) c.1254C>T (p.Asn418=) c.1167C>T (p.Asn389=) c.772-1129C>T (n.772-1129C>T) n.974C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46023989G>A | CA399984334 | MAPT | c.1057G>A (p.Ala353Thr) c.970G>A (p.Ala324Thr) c.1144G>A (p.Ala382Thr) n.370G>A n.328G>A n.562G>A c.2320G>A (p.Ala774Thr) c.2029G>A (p.Ala677Thr) c.964G>A (p.Ala322Thr) c.1093G>A (p.Ala365Thr) c.2095G>A (p.Ala699Thr) c.877G>A (p.Ala293Thr) c.2149G>A (p.Ala717Thr) c.1051G>A (p.Ala351Thr) n.6336G>A c.2407G>A (p.Ala803Thr) c.2314G>A (p.Ala772Thr) c.2233G>A (p.Ala745Thr) c.2209G>A (p.Ala737Thr) c.2116G>A (p.Ala706Thr) c.1342G>A (p.Ala448Thr) c.1255G>A (p.Ala419Thr) c.1168G>A (p.Ala390Thr) c.772-1128G>A (n.772-1128G>A) n.975G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46023989G>C | CA399984332 | MAPT | c.1057G>C (p.Ala353Pro) c.970G>C (p.Ala324Pro) c.1144G>C (p.Ala382Pro) n.370G>C n.328G>C n.562G>C c.2320G>C (p.Ala774Pro) c.2029G>C (p.Ala677Pro) c.964G>C (p.Ala322Pro) c.1093G>C (p.Ala365Pro) c.2095G>C (p.Ala699Pro) c.877G>C (p.Ala293Pro) c.2149G>C (p.Ala717Pro) c.1051G>C (p.Ala351Pro) n.6336G>C c.2407G>C (p.Ala803Pro) c.2314G>C (p.Ala772Pro) c.2233G>C (p.Ala745Pro) c.2209G>C (p.Ala737Pro) c.2116G>C (p.Ala706Pro) c.1342G>C (p.Ala448Pro) c.1255G>C (p.Ala419Pro) c.1168G>C (p.Ala390Pro) c.772-1128G>C (n.772-1128G>C) n.975G>C | |
17 | g.46023989G= | CA2262106907 | MAPT | c.1057G= (p.Ala353=) c.970G= (p.Ala324=) c.1144G= (p.Ala382=) n.370G= n.328G= n.562G= c.2320G= (p.Ala774=) c.2029G= (p.Ala677=) c.964G= (p.Ala322=) c.1093G= (p.Ala365=) c.2095G= (p.Ala699=) c.877G= (p.Ala293=) c.2149G= (p.Ala717=) c.1051G= (p.Ala351=) n.6336G= c.2407G= (p.Ala803=) c.2314G= (p.Ala772=) c.2233G= (p.Ala745=) c.2209G= (p.Ala737=) c.2116G= (p.Ala706=) c.1342G= (p.Ala448=) c.1255G= (p.Ala419=) c.1168G= (p.Ala390=) c.772-1128G= (n.772-1128G=) n.975G= | |
17 | g.46023989G>T | CA399984333 | MAPT | c.1057G>T (p.Ala353Ser) c.970G>T (p.Ala324Ser) c.1144G>T (p.Ala382Ser) n.370G>T n.328G>T n.562G>T c.2320G>T (p.Ala774Ser) c.2029G>T (p.Ala677Ser) c.964G>T (p.Ala322Ser) c.1093G>T (p.Ala365Ser) c.2095G>T (p.Ala699Ser) c.877G>T (p.Ala293Ser) c.2149G>T (p.Ala717Ser) c.1051G>T (p.Ala351Ser) n.6336G>T c.2407G>T (p.Ala803Ser) c.2314G>T (p.Ala772Ser) c.2233G>T (p.Ala745Ser) c.2209G>T (p.Ala737Ser) c.2116G>T (p.Ala706Ser) c.1342G>T (p.Ala448Ser) c.1255G>T (p.Ala419Ser) c.1168G>T (p.Ala390Ser) c.772-1128G>T (n.772-1128G>T) n.975G>T | |
17 | g.46023990C>A | CA399984335 | MAPT | c.1058C>A (p.Ala353Asp) c.971C>A (p.Ala324Asp) c.1145C>A (p.Ala382Asp) n.371C>A n.329C>A n.563C>A c.2321C>A (p.Ala774Asp) c.2030C>A (p.Ala677Asp) c.965C>A (p.Ala322Asp) c.1094C>A (p.Ala365Asp) c.2096C>A (p.Ala699Asp) c.878C>A (p.Ala293Asp) c.2150C>A (p.Ala717Asp) c.1052C>A (p.Ala351Asp) n.6337C>A c.2408C>A (p.Ala803Asp) c.2315C>A (p.Ala772Asp) c.2234C>A (p.Ala745Asp) c.2210C>A (p.Ala737Asp) c.2117C>A (p.Ala706Asp) c.1343C>A (p.Ala448Asp) c.1256C>A (p.Ala419Asp) c.1169C>A (p.Ala390Asp) c.772-1127C>A (n.772-1127C>A) n.976C>A | |
17 | g.46023990C= | CA2262106908 | MAPT | c.1058C= (p.Ala353=) c.971C= (p.Ala324=) c.1145C= (p.Ala382=) n.371C= n.329C= n.563C= c.2321C= (p.Ala774=) c.2030C= (p.Ala677=) c.965C= (p.Ala322=) c.1094C= (p.Ala365=) c.2096C= (p.Ala699=) c.878C= (p.Ala293=) c.2150C= (p.Ala717=) c.1052C= (p.Ala351=) n.6337C= c.2408C= (p.Ala803=) c.2315C= (p.Ala772=) c.2234C= (p.Ala745=) c.2210C= (p.Ala737=) c.2117C= (p.Ala706=) c.1343C= (p.Ala448=) c.1256C= (p.Ala419=) c.1169C= (p.Ala390=) c.772-1127C= (n.772-1127C=) n.976C= | |
17 | g.46023990C>G | CA399984336 | MAPT | c.1058C>G (p.Ala353Gly) c.971C>G (p.Ala324Gly) c.1145C>G (p.Ala382Gly) n.371C>G n.329C>G n.563C>G c.2321C>G (p.Ala774Gly) c.2030C>G (p.Ala677Gly) c.965C>G (p.Ala322Gly) c.1094C>G (p.Ala365Gly) c.2096C>G (p.Ala699Gly) c.878C>G (p.Ala293Gly) c.2150C>G (p.Ala717Gly) c.1052C>G (p.Ala351Gly) n.6337C>G c.2408C>G (p.Ala803Gly) c.2315C>G (p.Ala772Gly) c.2234C>G (p.Ala745Gly) c.2210C>G (p.Ala737Gly) c.2117C>G (p.Ala706Gly) c.1343C>G (p.Ala448Gly) c.1256C>G (p.Ala419Gly) c.1169C>G (p.Ala390Gly) c.772-1127C>G (n.772-1127C>G) n.976C>G | |
17 | g.46023990C>T | CA399984337 | MAPT | c.1058C>T (p.Ala353Val) c.971C>T (p.Ala324Val) c.1145C>T (p.Ala382Val) n.371C>T n.329C>T n.563C>T c.2321C>T (p.Ala774Val) c.2030C>T (p.Ala677Val) c.965C>T (p.Ala322Val) c.1094C>T (p.Ala365Val) c.2096C>T (p.Ala699Val) c.878C>T (p.Ala293Val) c.2150C>T (p.Ala717Val) c.1052C>T (p.Ala351Val) n.6337C>T c.2408C>T (p.Ala803Val) c.2315C>T (p.Ala772Val) c.2234C>T (p.Ala745Val) c.2210C>T (p.Ala737Val) c.2117C>T (p.Ala706Val) c.1343C>T (p.Ala448Val) c.1256C>T (p.Ala419Val) c.1169C>T (p.Ala390Val) c.772-1127C>T (n.772-1127C>T) n.976C>T | dbSNP gnomAD v2 |
17 | g.46023991C>A | CA500371402 | MAPT | c.1059C>A (p.Ala353=) c.972C>A (p.Ala324=) c.1146C>A (p.Ala382=) n.372C>A n.330C>A n.564C>A c.2322C>A (p.Ala774=) c.2031C>A (p.Ala677=) c.966C>A (p.Ala322=) c.1095C>A (p.Ala365=) c.2097C>A (p.Ala699=) c.879C>A (p.Ala293=) c.2151C>A (p.Ala717=) c.1053C>A (p.Ala351=) n.6338C>A c.2409C>A (p.Ala803=) c.2316C>A (p.Ala772=) c.2235C>A (p.Ala745=) c.2211C>A (p.Ala737=) c.2118C>A (p.Ala706=) c.1344C>A (p.Ala448=) c.1257C>A (p.Ala419=) c.1170C>A (p.Ala390=) c.772-1126C>A (n.772-1126C>A) n.977C>A | |
17 | g.46023991C= | CA2262106909 | MAPT | c.1059C= (p.Ala353=) c.972C= (p.Ala324=) c.1146C= (p.Ala382=) n.372C= n.330C= n.564C= c.2322C= (p.Ala774=) c.2031C= (p.Ala677=) c.966C= (p.Ala322=) c.1095C= (p.Ala365=) c.2097C= (p.Ala699=) c.879C= (p.Ala293=) c.2151C= (p.Ala717=) c.1053C= (p.Ala351=) n.6338C= c.2409C= (p.Ala803=) c.2316C= (p.Ala772=) c.2235C= (p.Ala745=) c.2211C= (p.Ala737=) c.2118C= (p.Ala706=) c.1344C= (p.Ala448=) c.1257C= (p.Ala419=) c.1170C= (p.Ala390=) c.772-1126C= (n.772-1126C=) n.977C= | |
17 | g.46023991C>G | CA500371404 | MAPT | c.1059C>G (p.Ala353=) c.972C>G (p.Ala324=) c.1146C>G (p.Ala382=) n.372C>G n.330C>G n.564C>G c.2322C>G (p.Ala774=) c.2031C>G (p.Ala677=) c.966C>G (p.Ala322=) c.1095C>G (p.Ala365=) c.2097C>G (p.Ala699=) c.879C>G (p.Ala293=) c.2151C>G (p.Ala717=) c.1053C>G (p.Ala351=) n.6338C>G c.2409C>G (p.Ala803=) c.2316C>G (p.Ala772=) c.2235C>G (p.Ala745=) c.2211C>G (p.Ala737=) c.2118C>G (p.Ala706=) c.1344C>G (p.Ala448=) c.1257C>G (p.Ala419=) c.1170C>G (p.Ala390=) c.772-1126C>G (n.772-1126C>G) n.977C>G | dbSNP |
17 | g.46023991C>T | CA500371403 | MAPT | c.1059C>T (p.Ala353=) c.972C>T (p.Ala324=) c.1146C>T (p.Ala382=) n.372C>T n.330C>T n.564C>T c.2322C>T (p.Ala774=) c.2031C>T (p.Ala677=) c.966C>T (p.Ala322=) c.1095C>T (p.Ala365=) c.2097C>T (p.Ala699=) c.879C>T (p.Ala293=) c.2151C>T (p.Ala717=) c.1053C>T (p.Ala351=) n.6338C>T c.2409C>T (p.Ala803=) c.2316C>T (p.Ala772=) c.2235C>T (p.Ala745=) c.2211C>T (p.Ala737=) c.2118C>T (p.Ala706=) c.1344C>T (p.Ala448=) c.1257C>T (p.Ala419=) c.1170C>T (p.Ala390=) c.772-1126C>T (n.772-1126C>T) n.977C>T | gnomAD v4 |
17 | g.46023992A= | CA2262106910 | MAPT | c.1060A= (p.Lys354=) c.973A= (p.Lys325=) c.1147A= (p.Lys383=) n.373A= n.331A= n.565A= c.2323A= (p.Lys775=) c.2032A= (p.Lys678=) c.967A= (p.Lys323=) c.1096A= (p.Lys366=) c.2098A= (p.Lys700=) c.880A= (p.Lys294=) c.2152A= (p.Lys718=) c.1054A= (p.Lys352=) n.6339A= c.2410A= (p.Lys804=) c.2317A= (p.Lys773=) c.2236A= (p.Lys746=) c.2212A= (p.Lys738=) c.2119A= (p.Lys707=) c.1345A= (p.Lys449=) c.1258A= (p.Lys420=) c.1171A= (p.Lys391=) c.772-1125A= (n.772-1125A=) n.978A= | |
17 | g.46023992A>C | CA399984338 | MAPT | c.1060A>C (p.Lys354Gln) c.973A>C (p.Lys325Gln) c.1147A>C (p.Lys383Gln) n.373A>C n.331A>C n.565A>C c.2323A>C (p.Lys775Gln) c.2032A>C (p.Lys678Gln) c.967A>C (p.Lys323Gln) c.1096A>C (p.Lys366Gln) c.2098A>C (p.Lys700Gln) c.880A>C (p.Lys294Gln) c.2152A>C (p.Lys718Gln) c.1054A>C (p.Lys352Gln) n.6339A>C c.2410A>C (p.Lys804Gln) c.2317A>C (p.Lys773Gln) c.2236A>C (p.Lys746Gln) c.2212A>C (p.Lys738Gln) c.2119A>C (p.Lys707Gln) c.1345A>C (p.Lys449Gln) c.1258A>C (p.Lys420Gln) c.1171A>C (p.Lys391Gln) c.772-1125A>C (n.772-1125A>C) n.978A>C | |
17 | g.46023992A>G | CA8618250 | MAPT | c.1060A>G (p.Lys354Glu) c.973A>G (p.Lys325Glu) c.1147A>G (p.Lys383Glu) n.373A>G n.331A>G n.565A>G c.2323A>G (p.Lys775Glu) c.2032A>G (p.Lys678Glu) c.967A>G (p.Lys323Glu) c.1096A>G (p.Lys366Glu) c.2098A>G (p.Lys700Glu) c.880A>G (p.Lys294Glu) c.2152A>G (p.Lys718Glu) c.1054A>G (p.Lys352Glu) n.6339A>G c.2410A>G (p.Lys804Glu) c.2317A>G (p.Lys773Glu) c.2236A>G (p.Lys746Glu) c.2212A>G (p.Lys738Glu) c.2119A>G (p.Lys707Glu) c.1345A>G (p.Lys449Glu) c.1258A>G (p.Lys420Glu) c.1171A>G (p.Lys391Glu) c.772-1125A>G (n.772-1125A>G) n.978A>G | dbSNP ExAC gnomAD v2 |
17 | g.46023992A>T | CA399984339 | MAPT | c.1060A>T (p.Lys354Ter) c.973A>T (p.Lys325Ter) c.1147A>T (p.Lys383Ter) n.373A>T n.331A>T n.565A>T c.2323A>T (p.Lys775Ter) c.2032A>T (p.Lys678Ter) c.967A>T (p.Lys323Ter) c.1096A>T (p.Lys366Ter) c.2098A>T (p.Lys700Ter) c.880A>T (p.Lys294Ter) c.2152A>T (p.Lys718Ter) c.1054A>T (p.Lys352Ter) n.6339A>T c.2410A>T (p.Lys804Ter) c.2317A>T (p.Lys773Ter) c.2236A>T (p.Lys746Ter) c.2212A>T (p.Lys738Ter) c.2119A>T (p.Lys707Ter) c.1345A>T (p.Lys449Ter) c.1258A>T (p.Lys420Ter) c.1171A>T (p.Lys391Ter) c.772-1125A>T (n.772-1125A>T) n.978A>T | |
17 | g.46023994dup | CA2840625563 | MAPT | c.1062dup (p.Ala355SerfsTer?) c.975dup (p.Ala326SerfsTer?) c.1149dup (p.Ala384SerfsTer?) n.375dup n.333dup n.567dup c.2325dup (p.Ala776SerfsTer?) c.2034dup (p.Ala679SerfsTer?) c.969dup (p.Ala324SerfsTer?) c.1098dup (p.Ala367SerfsTer?) c.2100dup (p.Ala701SerfsTer?) c.882dup (p.Ala295SerfsTer?) c.2154dup (p.Ala719SerfsTer?) c.1056dup (p.Ala353SerfsTer?) n.6341dup c.2412dup (p.Ala805SerfsTer?) c.2319dup (p.Ala774SerfsTer?) c.2238dup (p.Ala747SerfsTer?) c.2214dup (p.Ala739SerfsTer?) c.2121dup (p.Ala708SerfsTer?) c.1347dup (p.Ala450SerfsTer?) c.1260dup (p.Ala421SerfsTer?) c.1173dup (p.Ala392SerfsTer?) c.772-1123dup (n.772-1123dup) n.980dup | |
17 | g.46023993A>C | CA399984342 | MAPT | c.1061A>C (p.Lys354Thr) c.974A>C (p.Lys325Thr) c.1148A>C (p.Lys383Thr) n.374A>C n.332A>C n.566A>C c.2324A>C (p.Lys775Thr) c.2033A>C (p.Lys678Thr) c.968A>C (p.Lys323Thr) c.1097A>C (p.Lys366Thr) c.2099A>C (p.Lys700Thr) c.881A>C (p.Lys294Thr) c.2153A>C (p.Lys718Thr) c.1055A>C (p.Lys352Thr) n.6340A>C c.2411A>C (p.Lys804Thr) c.2318A>C (p.Lys773Thr) c.2237A>C (p.Lys746Thr) c.2213A>C (p.Lys738Thr) c.2120A>C (p.Lys707Thr) c.1346A>C (p.Lys449Thr) c.1259A>C (p.Lys420Thr) c.1172A>C (p.Lys391Thr) c.772-1124A>C (n.772-1124A>C) n.979A>C | |
17 | g.46023993A>G | CA399984340 | MAPT | c.1061A>G (p.Lys354Arg) c.974A>G (p.Lys325Arg) c.1148A>G (p.Lys383Arg) n.374A>G n.332A>G n.566A>G c.2324A>G (p.Lys775Arg) c.2033A>G (p.Lys678Arg) c.968A>G (p.Lys323Arg) c.1097A>G (p.Lys366Arg) c.2099A>G (p.Lys700Arg) c.881A>G (p.Lys294Arg) c.2153A>G (p.Lys718Arg) c.1055A>G (p.Lys352Arg) n.6340A>G c.2411A>G (p.Lys804Arg) c.2318A>G (p.Lys773Arg) c.2237A>G (p.Lys746Arg) c.2213A>G (p.Lys738Arg) c.2120A>G (p.Lys707Arg) c.1346A>G (p.Lys449Arg) c.1259A>G (p.Lys420Arg) c.1172A>G (p.Lys391Arg) c.772-1124A>G (n.772-1124A>G) n.979A>G | |
17 | g.46023993A>T | CA399984341 | MAPT | c.1061A>T (p.Lys354Ile) c.974A>T (p.Lys325Ile) c.1148A>T (p.Lys383Ile) n.374A>T n.332A>T n.566A>T c.2324A>T (p.Lys775Ile) c.2033A>T (p.Lys678Ile) c.968A>T (p.Lys323Ile) c.1097A>T (p.Lys366Ile) c.2099A>T (p.Lys700Ile) c.881A>T (p.Lys294Ile) c.2153A>T (p.Lys718Ile) c.1055A>T (p.Lys352Ile) n.6340A>T c.2411A>T (p.Lys804Ile) c.2318A>T (p.Lys773Ile) c.2237A>T (p.Lys746Ile) c.2213A>T (p.Lys738Ile) c.2120A>T (p.Lys707Ile) c.1346A>T (p.Lys449Ile) c.1259A>T (p.Lys420Ile) c.1172A>T (p.Lys391Ile) c.772-1124A>T (n.772-1124A>T) n.979A>T | |
17 | g.46023994A>C | CA399984343 | MAPT | c.1062A>C (p.Lys354Asn) c.975A>C (p.Lys325Asn) c.1149A>C (p.Lys383Asn) n.375A>C n.333A>C n.567A>C c.2325A>C (p.Lys775Asn) c.2034A>C (p.Lys678Asn) c.969A>C (p.Lys323Asn) c.1098A>C (p.Lys366Asn) c.2100A>C (p.Lys700Asn) c.882A>C (p.Lys294Asn) c.2154A>C (p.Lys718Asn) c.1056A>C (p.Lys352Asn) n.6341A>C c.2412A>C (p.Lys804Asn) c.2319A>C (p.Lys773Asn) c.2238A>C (p.Lys746Asn) c.2214A>C (p.Lys738Asn) c.2121A>C (p.Lys707Asn) c.1347A>C (p.Lys449Asn) c.1260A>C (p.Lys420Asn) c.1173A>C (p.Lys391Asn) c.772-1123A>C (n.772-1123A>C) n.980A>C | |
17 | g.46023994A>G | CA500371406 | MAPT | c.1062A>G (p.Lys354=) c.975A>G (p.Lys325=) c.1149A>G (p.Lys383=) n.375A>G n.333A>G n.567A>G c.2325A>G (p.Lys775=) c.2034A>G (p.Lys678=) c.969A>G (p.Lys323=) c.1098A>G (p.Lys366=) c.2100A>G (p.Lys700=) c.882A>G (p.Lys294=) c.2154A>G (p.Lys718=) c.1056A>G (p.Lys352=) n.6341A>G c.2412A>G (p.Lys804=) c.2319A>G (p.Lys773=) c.2238A>G (p.Lys746=) c.2214A>G (p.Lys738=) c.2121A>G (p.Lys707=) c.1347A>G (p.Lys449=) c.1260A>G (p.Lys420=) c.1173A>G (p.Lys391=) c.772-1123A>G (n.772-1123A>G) n.980A>G | |
17 | g.46023994A>T | CA399984344 | MAPT | c.1062A>T (p.Lys354Asn) c.975A>T (p.Lys325Asn) c.1149A>T (p.Lys383Asn) n.375A>T n.333A>T n.567A>T c.2325A>T (p.Lys775Asn) c.2034A>T (p.Lys678Asn) c.969A>T (p.Lys323Asn) c.1098A>T (p.Lys366Asn) c.2100A>T (p.Lys700Asn) c.882A>T (p.Lys294Asn) c.2154A>T (p.Lys718Asn) c.1056A>T (p.Lys352Asn) n.6341A>T c.2412A>T (p.Lys804Asn) c.2319A>T (p.Lys773Asn) c.2238A>T (p.Lys746Asn) c.2214A>T (p.Lys738Asn) c.2121A>T (p.Lys707Asn) c.1347A>T (p.Lys449Asn) c.1260A>T (p.Lys420Asn) c.1173A>T (p.Lys391Asn) c.772-1123A>T (n.772-1123A>T) n.980A>T | |
17 | g.46023995G>A | CA399984345 | MAPT | c.1063G>A (p.Ala355Thr) c.976G>A (p.Ala326Thr) c.1150G>A (p.Ala384Thr) n.376G>A n.334G>A n.568G>A c.2326G>A (p.Ala776Thr) c.2035G>A (p.Ala679Thr) c.970G>A (p.Ala324Thr) c.1099G>A (p.Ala367Thr) c.2101G>A (p.Ala701Thr) c.883G>A (p.Ala295Thr) c.2155G>A (p.Ala719Thr) c.1057G>A (p.Ala353Thr) n.6342G>A c.2413G>A (p.Ala805Thr) c.2320G>A (p.Ala774Thr) c.2239G>A (p.Ala747Thr) c.2215G>A (p.Ala739Thr) c.2122G>A (p.Ala708Thr) c.1348G>A (p.Ala450Thr) c.1261G>A (p.Ala421Thr) c.1174G>A (p.Ala392Thr) c.772-1122G>A (n.772-1122G>A) n.981G>A | |
17 | g.46023995G>C | CA399984346 | MAPT | c.1063G>C (p.Ala355Pro) c.976G>C (p.Ala326Pro) c.1150G>C (p.Ala384Pro) n.376G>C n.334G>C n.568G>C c.2326G>C (p.Ala776Pro) c.2035G>C (p.Ala679Pro) c.970G>C (p.Ala324Pro) c.1099G>C (p.Ala367Pro) c.2101G>C (p.Ala701Pro) c.883G>C (p.Ala295Pro) c.2155G>C (p.Ala719Pro) c.1057G>C (p.Ala353Pro) n.6342G>C c.2413G>C (p.Ala805Pro) c.2320G>C (p.Ala774Pro) c.2239G>C (p.Ala747Pro) c.2215G>C (p.Ala739Pro) c.2122G>C (p.Ala708Pro) c.1348G>C (p.Ala450Pro) c.1261G>C (p.Ala421Pro) c.1174G>C (p.Ala392Pro) c.772-1122G>C (n.772-1122G>C) n.981G>C | |
17 | g.46023995G>T | CA399984347 | MAPT | c.1063G>T (p.Ala355Ser) c.976G>T (p.Ala326Ser) c.1150G>T (p.Ala384Ser) n.376G>T n.334G>T n.568G>T c.2326G>T (p.Ala776Ser) c.2035G>T (p.Ala679Ser) c.970G>T (p.Ala324Ser) c.1099G>T (p.Ala367Ser) c.2101G>T (p.Ala701Ser) c.883G>T (p.Ala295Ser) c.2155G>T (p.Ala719Ser) c.1057G>T (p.Ala353Ser) n.6342G>T c.2413G>T (p.Ala805Ser) c.2320G>T (p.Ala774Ser) c.2239G>T (p.Ala747Ser) c.2215G>T (p.Ala739Ser) c.2122G>T (p.Ala708Ser) c.1348G>T (p.Ala450Ser) c.1261G>T (p.Ala421Ser) c.1174G>T (p.Ala392Ser) c.772-1122G>T (n.772-1122G>T) n.981G>T | |
17 | g.46023996C>A | CA399984348 | MAPT | c.1064C>A (p.Ala355Asp) c.977C>A (p.Ala326Asp) c.1151C>A (p.Ala384Asp) n.377C>A n.335C>A n.569C>A c.2327C>A (p.Ala776Asp) c.2036C>A (p.Ala679Asp) c.971C>A (p.Ala324Asp) c.1100C>A (p.Ala367Asp) c.2102C>A (p.Ala701Asp) c.884C>A (p.Ala295Asp) c.2156C>A (p.Ala719Asp) c.1058C>A (p.Ala353Asp) n.6343C>A c.2414C>A (p.Ala805Asp) c.2321C>A (p.Ala774Asp) c.2240C>A (p.Ala747Asp) c.2216C>A (p.Ala739Asp) c.2123C>A (p.Ala708Asp) c.1349C>A (p.Ala450Asp) c.1262C>A (p.Ala421Asp) c.1175C>A (p.Ala392Asp) c.772-1121C>A (n.772-1121C>A) n.982C>A | |
17 | g.46023996C>G | CA399984350 | MAPT | c.1064C>G (p.Ala355Gly) c.977C>G (p.Ala326Gly) c.1151C>G (p.Ala384Gly) n.377C>G n.335C>G n.569C>G c.2327C>G (p.Ala776Gly) c.2036C>G (p.Ala679Gly) c.971C>G (p.Ala324Gly) c.1100C>G (p.Ala367Gly) c.2102C>G (p.Ala701Gly) c.884C>G (p.Ala295Gly) c.2156C>G (p.Ala719Gly) c.1058C>G (p.Ala353Gly) n.6343C>G c.2414C>G (p.Ala805Gly) c.2321C>G (p.Ala774Gly) c.2240C>G (p.Ala747Gly) c.2216C>G (p.Ala739Gly) c.2123C>G (p.Ala708Gly) c.1349C>G (p.Ala450Gly) c.1262C>G (p.Ala421Gly) c.1175C>G (p.Ala392Gly) c.772-1121C>G (n.772-1121C>G) n.982C>G | |
17 | g.46023996C>T | CA399984349 | MAPT | c.1064C>T (p.Ala355Val) c.977C>T (p.Ala326Val) c.1151C>T (p.Ala384Val) n.377C>T n.335C>T n.569C>T c.2327C>T (p.Ala776Val) c.2036C>T (p.Ala679Val) c.971C>T (p.Ala324Val) c.1100C>T (p.Ala367Val) c.2102C>T (p.Ala701Val) c.884C>T (p.Ala295Val) c.2156C>T (p.Ala719Val) c.1058C>T (p.Ala353Val) n.6343C>T c.2414C>T (p.Ala805Val) c.2321C>T (p.Ala774Val) c.2240C>T (p.Ala747Val) c.2216C>T (p.Ala739Val) c.2123C>T (p.Ala708Val) c.1349C>T (p.Ala450Val) c.1262C>T (p.Ala421Val) c.1175C>T (p.Ala392Val) c.772-1121C>T (n.772-1121C>T) n.982C>T | |
17 | g.46023997C>A | CA500371408 | MAPT | c.1065C>A (p.Ala355=) c.978C>A (p.Ala326=) c.1152C>A (p.Ala384=) n.378C>A n.336C>A n.570C>A c.2328C>A (p.Ala776=) c.2037C>A (p.Ala679=) c.972C>A (p.Ala324=) c.1101C>A (p.Ala367=) c.2103C>A (p.Ala701=) c.885C>A (p.Ala295=) c.2157C>A (p.Ala719=) c.1059C>A (p.Ala353=) n.6344C>A c.2415C>A (p.Ala805=) c.2322C>A (p.Ala774=) c.2241C>A (p.Ala747=) c.2217C>A (p.Ala739=) c.2124C>A (p.Ala708=) c.1350C>A (p.Ala450=) c.1263C>A (p.Ala421=) c.1176C>A (p.Ala392=) c.772-1120C>A (n.772-1120C>A) n.983C>A | |
17 | g.46023997C>G | CA500371407 | MAPT | c.1065C>G (p.Ala355=) c.978C>G (p.Ala326=) c.1152C>G (p.Ala384=) n.378C>G n.336C>G n.570C>G c.2328C>G (p.Ala776=) c.2037C>G (p.Ala679=) c.972C>G (p.Ala324=) c.1101C>G (p.Ala367=) c.2103C>G (p.Ala701=) c.885C>G (p.Ala295=) c.2157C>G (p.Ala719=) c.1059C>G (p.Ala353=) n.6344C>G c.2415C>G (p.Ala805=) c.2322C>G (p.Ala774=) c.2241C>G (p.Ala747=) c.2217C>G (p.Ala739=) c.2124C>G (p.Ala708=) c.1350C>G (p.Ala450=) c.1263C>G (p.Ala421=) c.1176C>G (p.Ala392=) c.772-1120C>G (n.772-1120C>G) n.983C>G | |
17 | g.46023997C>T | CA500371409 | MAPT | c.1065C>T (p.Ala355=) c.978C>T (p.Ala326=) c.1152C>T (p.Ala384=) n.378C>T n.336C>T n.570C>T c.2328C>T (p.Ala776=) c.2037C>T (p.Ala679=) c.972C>T (p.Ala324=) c.1101C>T (p.Ala367=) c.2103C>T (p.Ala701=) c.885C>T (p.Ala295=) c.2157C>T (p.Ala719=) c.1059C>T (p.Ala353=) n.6344C>T c.2415C>T (p.Ala805=) c.2322C>T (p.Ala774=) c.2241C>T (p.Ala747=) c.2217C>T (p.Ala739=) c.2124C>T (p.Ala708=) c.1350C>T (p.Ala450=) c.1263C>T (p.Ala421=) c.1176C>T (p.Ala392=) c.772-1120C>T (n.772-1120C>T) n.983C>T | ClinVar dbSNP |
17 | g.46023998A= | CA2262106911 | MAPT | c.1066A= (p.Lys356=) c.979A= (p.Lys327=) c.1153A= (p.Lys385=) n.379A= n.337A= n.571A= c.2329A= (p.Lys777=) c.2038A= (p.Lys680=) c.973A= (p.Lys325=) c.1102A= (p.Lys368=) c.2104A= (p.Lys702=) c.886A= (p.Lys296=) c.2158A= (p.Lys720=) c.1060A= (p.Lys354=) n.6345A= c.2416A= (p.Lys806=) c.2323A= (p.Lys775=) c.2242A= (p.Lys748=) c.2218A= (p.Lys740=) c.2125A= (p.Lys709=) c.1351A= (p.Lys451=) c.1264A= (p.Lys422=) c.1177A= (p.Lys393=) c.772-1119A= (n.772-1119A=) n.984A= | |
17 | g.46023998A>C | CA399984351 | MAPT | c.1066A>C (p.Lys356Gln) c.979A>C (p.Lys327Gln) c.1153A>C (p.Lys385Gln) n.379A>C n.337A>C n.571A>C c.2329A>C (p.Lys777Gln) c.2038A>C (p.Lys680Gln) c.973A>C (p.Lys325Gln) c.1102A>C (p.Lys368Gln) c.2104A>C (p.Lys702Gln) c.886A>C (p.Lys296Gln) c.2158A>C (p.Lys720Gln) c.1060A>C (p.Lys354Gln) n.6345A>C c.2416A>C (p.Lys806Gln) c.2323A>C (p.Lys775Gln) c.2242A>C (p.Lys748Gln) c.2218A>C (p.Lys740Gln) c.2125A>C (p.Lys709Gln) c.1351A>C (p.Lys451Gln) c.1264A>C (p.Lys422Gln) c.1177A>C (p.Lys393Gln) c.772-1119A>C (n.772-1119A>C) n.984A>C | |
17 | g.46023998A>G | CA8618251 | MAPT | c.1066A>G (p.Lys356Glu) c.979A>G (p.Lys327Glu) c.1153A>G (p.Lys385Glu) n.379A>G n.337A>G n.571A>G c.2329A>G (p.Lys777Glu) c.2038A>G (p.Lys680Glu) c.973A>G (p.Lys325Glu) c.1102A>G (p.Lys368Glu) c.2104A>G (p.Lys702Glu) c.886A>G (p.Lys296Glu) c.2158A>G (p.Lys720Glu) c.1060A>G (p.Lys354Glu) n.6345A>G c.2416A>G (p.Lys806Glu) c.2323A>G (p.Lys775Glu) c.2242A>G (p.Lys748Glu) c.2218A>G (p.Lys740Glu) c.2125A>G (p.Lys709Glu) c.1351A>G (p.Lys451Glu) c.1264A>G (p.Lys422Glu) c.1177A>G (p.Lys393Glu) c.772-1119A>G (n.772-1119A>G) n.984A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46023998A>T | CA399984352 | MAPT | c.1066A>T (p.Lys356Ter) c.979A>T (p.Lys327Ter) c.1153A>T (p.Lys385Ter) n.379A>T n.337A>T n.571A>T c.2329A>T (p.Lys777Ter) c.2038A>T (p.Lys680Ter) c.973A>T (p.Lys325Ter) c.1102A>T (p.Lys368Ter) c.2104A>T (p.Lys702Ter) c.886A>T (p.Lys296Ter) c.2158A>T (p.Lys720Ter) c.1060A>T (p.Lys354Ter) n.6345A>T c.2416A>T (p.Lys806Ter) c.2323A>T (p.Lys775Ter) c.2242A>T (p.Lys748Ter) c.2218A>T (p.Lys740Ter) c.2125A>T (p.Lys709Ter) c.1351A>T (p.Lys451Ter) c.1264A>T (p.Lys422Ter) c.1177A>T (p.Lys393Ter) c.772-1119A>T (n.772-1119A>T) n.984A>T | |
17 | g.46023999A>C | CA399984353 | MAPT | c.1067A>C (p.Lys356Thr) c.980A>C (p.Lys327Thr) c.1154A>C (p.Lys385Thr) n.380A>C n.338A>C n.572A>C c.2330A>C (p.Lys777Thr) c.2039A>C (p.Lys680Thr) c.974A>C (p.Lys325Thr) c.1103A>C (p.Lys368Thr) c.2105A>C (p.Lys702Thr) c.887A>C (p.Lys296Thr) c.2159A>C (p.Lys720Thr) c.1061A>C (p.Lys354Thr) n.6346A>C c.2417A>C (p.Lys806Thr) c.2324A>C (p.Lys775Thr) c.2243A>C (p.Lys748Thr) c.2219A>C (p.Lys740Thr) c.2126A>C (p.Lys709Thr) c.1352A>C (p.Lys451Thr) c.1265A>C (p.Lys422Thr) c.1178A>C (p.Lys393Thr) c.772-1118A>C (n.772-1118A>C) n.985A>C | |
17 | g.46023999A>G | CA399984354 | MAPT | c.1067A>G (p.Lys356Arg) c.980A>G (p.Lys327Arg) c.1154A>G (p.Lys385Arg) n.380A>G n.338A>G n.572A>G c.2330A>G (p.Lys777Arg) c.2039A>G (p.Lys680Arg) c.974A>G (p.Lys325Arg) c.1103A>G (p.Lys368Arg) c.2105A>G (p.Lys702Arg) c.887A>G (p.Lys296Arg) c.2159A>G (p.Lys720Arg) c.1061A>G (p.Lys354Arg) n.6346A>G c.2417A>G (p.Lys806Arg) c.2324A>G (p.Lys775Arg) c.2243A>G (p.Lys748Arg) c.2219A>G (p.Lys740Arg) c.2126A>G (p.Lys709Arg) c.1352A>G (p.Lys451Arg) c.1265A>G (p.Lys422Arg) c.1178A>G (p.Lys393Arg) c.772-1118A>G (n.772-1118A>G) n.985A>G | |
17 | g.46023999A>T | CA399984355 | MAPT | c.1067A>T (p.Lys356Met) c.980A>T (p.Lys327Met) c.1154A>T (p.Lys385Met) n.380A>T n.338A>T n.572A>T c.2330A>T (p.Lys777Met) c.2039A>T (p.Lys680Met) c.974A>T (p.Lys325Met) c.1103A>T (p.Lys368Met) c.2105A>T (p.Lys702Met) c.887A>T (p.Lys296Met) c.2159A>T (p.Lys720Met) c.1061A>T (p.Lys354Met) n.6346A>T c.2417A>T (p.Lys806Met) c.2324A>T (p.Lys775Met) c.2243A>T (p.Lys748Met) c.2219A>T (p.Lys740Met) c.2126A>T (p.Lys709Met) c.1352A>T (p.Lys451Met) c.1265A>T (p.Lys422Met) c.1178A>T (p.Lys393Met) c.772-1118A>T (n.772-1118A>T) n.985A>T | |
17 | g.46024003_46024006del | CA2638368845 | MAPT | c.1071_1074del (p.Asp358ThrfsTer?) c.984_987del (p.Asp329ThrfsTer?) c.1158_1161del (p.Asp387ThrfsTer?) n.384_387del n.342_345del n.576_579del c.2334_2337del (p.Asp779ThrfsTer?) c.2043_2046del (p.Asp682ThrfsTer?) c.978_981del (p.Asp327ThrfsTer?) c.1107_1110del (p.Asp370ThrfsTer?) c.2109_2112del (p.Asp704ThrfsTer?) c.891_894del (p.Asp298ThrfsTer?) c.2163_2166del (p.Asp722ThrfsTer?) c.1065_1068del (p.Asp356ThrfsTer?) n.6350_6353del c.2421_2424del (p.Asp808ThrfsTer?) c.2328_2331del (p.Asp777ThrfsTer?) c.2247_2250del (p.Asp750ThrfsTer?) c.2223_2226del (p.Asp742ThrfsTer?) c.2130_2133del (p.Asp711ThrfsTer?) c.1356_1359del (p.Asp453ThrfsTer?) c.1269_1272del (p.Asp424ThrfsTer?) c.1182_1185del (p.Asp395ThrfsTer?) c.772-1114_772-1111del (n.772-1114_772-1111del) n.989_992del | gnomAD v4 |
17 | g.46024000G>A | CA500371413 | MAPT | c.1068G>A (p.Lys356=) c.981G>A (p.Lys327=) c.1155G>A (p.Lys385=) n.381G>A n.339G>A n.573G>A c.2331G>A (p.Lys777=) c.2040G>A (p.Lys680=) c.975G>A (p.Lys325=) c.1104G>A (p.Lys368=) c.2106G>A (p.Lys702=) c.888G>A (p.Lys296=) c.2160G>A (p.Lys720=) c.1062G>A (p.Lys354=) n.6347G>A c.2418G>A (p.Lys806=) c.2325G>A (p.Lys775=) c.2244G>A (p.Lys748=) c.2220G>A (p.Lys740=) c.2127G>A (p.Lys709=) c.1353G>A (p.Lys451=) c.1266G>A (p.Lys422=) c.1179G>A (p.Lys393=) c.772-1117G>A (n.772-1117G>A) n.986G>A | |
17 | g.46024000G>C | CA399984356 | MAPT | c.1068G>C (p.Lys356Asn) c.981G>C (p.Lys327Asn) c.1155G>C (p.Lys385Asn) n.381G>C n.339G>C n.573G>C c.2331G>C (p.Lys777Asn) c.2040G>C (p.Lys680Asn) c.975G>C (p.Lys325Asn) c.1104G>C (p.Lys368Asn) c.2106G>C (p.Lys702Asn) c.888G>C (p.Lys296Asn) c.2160G>C (p.Lys720Asn) c.1062G>C (p.Lys354Asn) n.6347G>C c.2418G>C (p.Lys806Asn) c.2325G>C (p.Lys775Asn) c.2244G>C (p.Lys748Asn) c.2220G>C (p.Lys740Asn) c.2127G>C (p.Lys709Asn) c.1353G>C (p.Lys451Asn) c.1266G>C (p.Lys422Asn) c.1179G>C (p.Lys393Asn) c.772-1117G>C (n.772-1117G>C) n.986G>C | |
17 | g.46024000G>T | CA399984357 | MAPT | c.1068G>T (p.Lys356Asn) c.981G>T (p.Lys327Asn) c.1155G>T (p.Lys385Asn) n.381G>T n.339G>T n.573G>T c.2331G>T (p.Lys777Asn) c.2040G>T (p.Lys680Asn) c.975G>T (p.Lys325Asn) c.1104G>T (p.Lys368Asn) c.2106G>T (p.Lys702Asn) c.888G>T (p.Lys296Asn) c.2160G>T (p.Lys720Asn) c.1062G>T (p.Lys354Asn) n.6347G>T c.2418G>T (p.Lys806Asn) c.2325G>T (p.Lys775Asn) c.2244G>T (p.Lys748Asn) c.2220G>T (p.Lys740Asn) c.2127G>T (p.Lys709Asn) c.1353G>T (p.Lys451Asn) c.1266G>T (p.Lys422Asn) c.1179G>T (p.Lys393Asn) c.772-1117G>T (n.772-1117G>T) n.986G>T | |
17 | g.46024001A>C | CA399984358 | MAPT | c.1069A>C (p.Thr357Pro) c.982A>C (p.Thr328Pro) c.1156A>C (p.Thr386Pro) n.382A>C n.340A>C n.574A>C c.2332A>C (p.Thr778Pro) c.2041A>C (p.Thr681Pro) c.976A>C (p.Thr326Pro) c.1105A>C (p.Thr369Pro) c.2107A>C (p.Thr703Pro) c.889A>C (p.Thr297Pro) c.2161A>C (p.Thr721Pro) c.1063A>C (p.Thr355Pro) n.6348A>C c.2419A>C (p.Thr807Pro) c.2326A>C (p.Thr776Pro) c.2245A>C (p.Thr749Pro) c.2221A>C (p.Thr741Pro) c.2128A>C (p.Thr710Pro) c.1354A>C (p.Thr452Pro) c.1267A>C (p.Thr423Pro) c.1180A>C (p.Thr394Pro) c.772-1116A>C (n.772-1116A>C) n.987A>C | |
17 | g.46024001A>G | CA399984359 | MAPT | c.1069A>G (p.Thr357Ala) c.982A>G (p.Thr328Ala) c.1156A>G (p.Thr386Ala) n.382A>G n.340A>G n.574A>G c.2332A>G (p.Thr778Ala) c.2041A>G (p.Thr681Ala) c.976A>G (p.Thr326Ala) c.1105A>G (p.Thr369Ala) c.2107A>G (p.Thr703Ala) c.889A>G (p.Thr297Ala) c.2161A>G (p.Thr721Ala) c.1063A>G (p.Thr355Ala) n.6348A>G c.2419A>G (p.Thr807Ala) c.2326A>G (p.Thr776Ala) c.2245A>G (p.Thr749Ala) c.2221A>G (p.Thr741Ala) c.2128A>G (p.Thr710Ala) c.1354A>G (p.Thr452Ala) c.1267A>G (p.Thr423Ala) c.1180A>G (p.Thr394Ala) c.772-1116A>G (n.772-1116A>G) n.987A>G | |
17 | g.46024001A>T | CA399984360 | MAPT | c.1069A>T (p.Thr357Ser) c.982A>T (p.Thr328Ser) c.1156A>T (p.Thr386Ser) n.382A>T n.340A>T n.574A>T c.2332A>T (p.Thr778Ser) c.2041A>T (p.Thr681Ser) c.976A>T (p.Thr326Ser) c.1105A>T (p.Thr369Ser) c.2107A>T (p.Thr703Ser) c.889A>T (p.Thr297Ser) c.2161A>T (p.Thr721Ser) c.1063A>T (p.Thr355Ser) n.6348A>T c.2419A>T (p.Thr807Ser) c.2326A>T (p.Thr776Ser) c.2245A>T (p.Thr749Ser) c.2221A>T (p.Thr741Ser) c.2128A>T (p.Thr710Ser) c.1354A>T (p.Thr452Ser) c.1267A>T (p.Thr423Ser) c.1180A>T (p.Thr394Ser) c.772-1116A>T (n.772-1116A>T) n.987A>T | |
17 | g.46024002C>A | CA399984361 | MAPT | c.1070C>A (p.Thr357Lys) c.983C>A (p.Thr328Lys) c.1157C>A (p.Thr386Lys) n.383C>A n.341C>A n.575C>A c.2333C>A (p.Thr778Lys) c.2042C>A (p.Thr681Lys) c.977C>A (p.Thr326Lys) c.1106C>A (p.Thr369Lys) c.2108C>A (p.Thr703Lys) c.890C>A (p.Thr297Lys) c.2162C>A (p.Thr721Lys) c.1064C>A (p.Thr355Lys) n.6349C>A c.2420C>A (p.Thr807Lys) c.2327C>A (p.Thr776Lys) c.2246C>A (p.Thr749Lys) c.2222C>A (p.Thr741Lys) c.2129C>A (p.Thr710Lys) c.1355C>A (p.Thr452Lys) c.1268C>A (p.Thr423Lys) c.1181C>A (p.Thr394Lys) c.772-1115C>A (n.772-1115C>A) n.988C>A | |
17 | g.46024002C= | CA2262106912 | MAPT | c.1070C= (p.Thr357=) c.983C= (p.Thr328=) c.1157C= (p.Thr386=) n.383C= n.341C= n.575C= c.2333C= (p.Thr778=) c.2042C= (p.Thr681=) c.977C= (p.Thr326=) c.1106C= (p.Thr369=) c.2108C= (p.Thr703=) c.890C= (p.Thr297=) c.2162C= (p.Thr721=) c.1064C= (p.Thr355=) n.6349C= c.2420C= (p.Thr807=) c.2327C= (p.Thr776=) c.2246C= (p.Thr749=) c.2222C= (p.Thr741=) c.2129C= (p.Thr710=) c.1355C= (p.Thr452=) c.1268C= (p.Thr423=) c.1181C= (p.Thr394=) c.772-1115C= (n.772-1115C=) n.988C= | |
17 | g.46024002C>G | CA399984363 | MAPT | c.1070C>G (p.Thr357Arg) c.983C>G (p.Thr328Arg) c.1157C>G (p.Thr386Arg) n.383C>G n.341C>G n.575C>G c.2333C>G (p.Thr778Arg) c.2042C>G (p.Thr681Arg) c.977C>G (p.Thr326Arg) c.1106C>G (p.Thr369Arg) c.2108C>G (p.Thr703Arg) c.890C>G (p.Thr297Arg) c.2162C>G (p.Thr721Arg) c.1064C>G (p.Thr355Arg) n.6349C>G c.2420C>G (p.Thr807Arg) c.2327C>G (p.Thr776Arg) c.2246C>G (p.Thr749Arg) c.2222C>G (p.Thr741Arg) c.2129C>G (p.Thr710Arg) c.1355C>G (p.Thr452Arg) c.1268C>G (p.Thr423Arg) c.1181C>G (p.Thr394Arg) c.772-1115C>G (n.772-1115C>G) n.988C>G | gnomAD v4 |
17 | g.46024002C>T | CA399984362 | MAPT | c.1070C>T (p.Thr357Ile) c.983C>T (p.Thr328Ile) c.1157C>T (p.Thr386Ile) n.383C>T n.341C>T n.575C>T c.2333C>T (p.Thr778Ile) c.2042C>T (p.Thr681Ile) c.977C>T (p.Thr326Ile) c.1106C>T (p.Thr369Ile) c.2108C>T (p.Thr703Ile) c.890C>T (p.Thr297Ile) c.2162C>T (p.Thr721Ile) c.1064C>T (p.Thr355Ile) n.6349C>T c.2420C>T (p.Thr807Ile) c.2327C>T (p.Thr776Ile) c.2246C>T (p.Thr749Ile) c.2222C>T (p.Thr741Ile) c.2129C>T (p.Thr710Ile) c.1355C>T (p.Thr452Ile) c.1268C>T (p.Thr423Ile) c.1181C>T (p.Thr394Ile) c.772-1115C>T (n.772-1115C>T) n.988C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46024003A= | CA2262106913 | MAPT | c.1071A= (p.Thr357=) c.984A= (p.Thr328=) c.1158A= (p.Thr386=) n.384A= n.342A= n.576A= c.2334A= (p.Thr778=) c.2043A= (p.Thr681=) c.978A= (p.Thr326=) c.1107A= (p.Thr369=) c.2109A= (p.Thr703=) c.891A= (p.Thr297=) c.2163A= (p.Thr721=) c.1065A= (p.Thr355=) n.6350A= c.2421A= (p.Thr807=) c.2328A= (p.Thr776=) c.2247A= (p.Thr749=) c.2223A= (p.Thr741=) c.2130A= (p.Thr710=) c.1356A= (p.Thr452=) c.1269A= (p.Thr423=) c.1182A= (p.Thr394=) c.772-1114A= (n.772-1114A=) n.989A= | |
17 | g.46024003A>C | CA500371417 | MAPT | c.1071A>C (p.Thr357=) c.984A>C (p.Thr328=) c.1158A>C (p.Thr386=) n.384A>C n.342A>C n.576A>C c.2334A>C (p.Thr778=) c.2043A>C (p.Thr681=) c.978A>C (p.Thr326=) c.1107A>C (p.Thr369=) c.2109A>C (p.Thr703=) c.891A>C (p.Thr297=) c.2163A>C (p.Thr721=) c.1065A>C (p.Thr355=) n.6350A>C c.2421A>C (p.Thr807=) c.2328A>C (p.Thr776=) c.2247A>C (p.Thr749=) c.2223A>C (p.Thr741=) c.2130A>C (p.Thr710=) c.1356A>C (p.Thr452=) c.1269A>C (p.Thr423=) c.1182A>C (p.Thr394=) c.772-1114A>C (n.772-1114A>C) n.989A>C | |
17 | g.46024003A>G | CA500371415 | MAPT | c.1071A>G (p.Thr357=) c.984A>G (p.Thr328=) c.1158A>G (p.Thr386=) n.384A>G n.342A>G n.576A>G c.2334A>G (p.Thr778=) c.2043A>G (p.Thr681=) c.978A>G (p.Thr326=) c.1107A>G (p.Thr369=) c.2109A>G (p.Thr703=) c.891A>G (p.Thr297=) c.2163A>G (p.Thr721=) c.1065A>G (p.Thr355=) n.6350A>G c.2421A>G (p.Thr807=) c.2328A>G (p.Thr776=) c.2247A>G (p.Thr749=) c.2223A>G (p.Thr741=) c.2130A>G (p.Thr710=) c.1356A>G (p.Thr452=) c.1269A>G (p.Thr423=) c.1182A>G (p.Thr394=) c.772-1114A>G (n.772-1114A>G) n.989A>G | dbSNP gnomAD v2 |
17 | g.46024003A>T | CA500371416 | MAPT | c.1071A>T (p.Thr357=) c.984A>T (p.Thr328=) c.1158A>T (p.Thr386=) n.384A>T n.342A>T n.576A>T c.2334A>T (p.Thr778=) c.2043A>T (p.Thr681=) c.978A>T (p.Thr326=) c.1107A>T (p.Thr369=) c.2109A>T (p.Thr703=) c.891A>T (p.Thr297=) c.2163A>T (p.Thr721=) c.1065A>T (p.Thr355=) n.6350A>T c.2421A>T (p.Thr807=) c.2328A>T (p.Thr776=) c.2247A>T (p.Thr749=) c.2223A>T (p.Thr741=) c.2130A>T (p.Thr710=) c.1356A>T (p.Thr452=) c.1269A>T (p.Thr423=) c.1182A>T (p.Thr394=) c.772-1114A>T (n.772-1114A>T) n.989A>T | |
17 | g.46024004G>A | CA399984364 | MAPT | c.1072G>A (p.Asp358Asn) c.985G>A (p.Asp329Asn) c.1159G>A (p.Asp387Asn) n.385G>A n.343G>A n.577G>A c.2335G>A (p.Asp779Asn) c.2044G>A (p.Asp682Asn) c.979G>A (p.Asp327Asn) c.1108G>A (p.Asp370Asn) c.2110G>A (p.Asp704Asn) c.892G>A (p.Asp298Asn) c.2164G>A (p.Asp722Asn) c.1066G>A (p.Asp356Asn) n.6351G>A c.2422G>A (p.Asp808Asn) c.2329G>A (p.Asp777Asn) c.2248G>A (p.Asp750Asn) c.2224G>A (p.Asp742Asn) c.2131G>A (p.Asp711Asn) c.1357G>A (p.Asp453Asn) c.1270G>A (p.Asp424Asn) c.1183G>A (p.Asp395Asn) c.772-1113G>A (n.772-1113G>A) n.990G>A | |
17 | g.46024004G>C | CA399984366 | MAPT | c.1072G>C (p.Asp358His) c.985G>C (p.Asp329His) c.1159G>C (p.Asp387His) n.385G>C n.343G>C n.577G>C c.2335G>C (p.Asp779His) c.2044G>C (p.Asp682His) c.979G>C (p.Asp327His) c.1108G>C (p.Asp370His) c.2110G>C (p.Asp704His) c.892G>C (p.Asp298His) c.2164G>C (p.Asp722His) c.1066G>C (p.Asp356His) n.6351G>C c.2422G>C (p.Asp808His) c.2329G>C (p.Asp777His) c.2248G>C (p.Asp750His) c.2224G>C (p.Asp742His) c.2131G>C (p.Asp711His) c.1357G>C (p.Asp453His) c.1270G>C (p.Asp424His) c.1183G>C (p.Asp395His) c.772-1113G>C (n.772-1113G>C) n.990G>C | |
17 | g.46024004G>T | CA399984365 | MAPT | c.1072G>T (p.Asp358Tyr) c.985G>T (p.Asp329Tyr) c.1159G>T (p.Asp387Tyr) n.385G>T n.343G>T n.577G>T c.2335G>T (p.Asp779Tyr) c.2044G>T (p.Asp682Tyr) c.979G>T (p.Asp327Tyr) c.1108G>T (p.Asp370Tyr) c.2110G>T (p.Asp704Tyr) c.892G>T (p.Asp298Tyr) c.2164G>T (p.Asp722Tyr) c.1066G>T (p.Asp356Tyr) n.6351G>T c.2422G>T (p.Asp808Tyr) c.2329G>T (p.Asp777Tyr) c.2248G>T (p.Asp750Tyr) c.2224G>T (p.Asp742Tyr) c.2131G>T (p.Asp711Tyr) c.1357G>T (p.Asp453Tyr) c.1270G>T (p.Asp424Tyr) c.1183G>T (p.Asp395Tyr) c.772-1113G>T (n.772-1113G>T) n.990G>T | |
17 | g.46024005A>C | CA399984367 | MAPT | c.1073A>C (p.Asp358Ala) c.986A>C (p.Asp329Ala) c.1160A>C (p.Asp387Ala) n.386A>C n.344A>C n.578A>C c.2336A>C (p.Asp779Ala) c.2045A>C (p.Asp682Ala) c.980A>C (p.Asp327Ala) c.1109A>C (p.Asp370Ala) c.2111A>C (p.Asp704Ala) c.893A>C (p.Asp298Ala) c.2165A>C (p.Asp722Ala) c.1067A>C (p.Asp356Ala) n.6352A>C c.2423A>C (p.Asp808Ala) c.2330A>C (p.Asp777Ala) c.2249A>C (p.Asp750Ala) c.2225A>C (p.Asp742Ala) c.2132A>C (p.Asp711Ala) c.1358A>C (p.Asp453Ala) c.1271A>C (p.Asp424Ala) c.1184A>C (p.Asp395Ala) c.772-1112A>C (n.772-1112A>C) n.991A>C | |
17 | g.46024005A>G | CA399984368 | MAPT | c.1073A>G (p.Asp358Gly) c.986A>G (p.Asp329Gly) c.1160A>G (p.Asp387Gly) n.386A>G n.344A>G n.578A>G c.2336A>G (p.Asp779Gly) c.2045A>G (p.Asp682Gly) c.980A>G (p.Asp327Gly) c.1109A>G (p.Asp370Gly) c.2111A>G (p.Asp704Gly) c.893A>G (p.Asp298Gly) c.2165A>G (p.Asp722Gly) c.1067A>G (p.Asp356Gly) n.6352A>G c.2423A>G (p.Asp808Gly) c.2330A>G (p.Asp777Gly) c.2249A>G (p.Asp750Gly) c.2225A>G (p.Asp742Gly) c.2132A>G (p.Asp711Gly) c.1358A>G (p.Asp453Gly) c.1271A>G (p.Asp424Gly) c.1184A>G (p.Asp395Gly) c.772-1112A>G (n.772-1112A>G) n.991A>G | |
17 | g.46024005A>T | CA399984369 | MAPT | c.1073A>T (p.Asp358Val) c.986A>T (p.Asp329Val) c.1160A>T (p.Asp387Val) n.386A>T n.344A>T n.578A>T c.2336A>T (p.Asp779Val) c.2045A>T (p.Asp682Val) c.980A>T (p.Asp327Val) c.1109A>T (p.Asp370Val) c.2111A>T (p.Asp704Val) c.893A>T (p.Asp298Val) c.2165A>T (p.Asp722Val) c.1067A>T (p.Asp356Val) n.6352A>T c.2423A>T (p.Asp808Val) c.2330A>T (p.Asp777Val) c.2249A>T (p.Asp750Val) c.2225A>T (p.Asp742Val) c.2132A>T (p.Asp711Val) c.1358A>T (p.Asp453Val) c.1271A>T (p.Asp424Val) c.1184A>T (p.Asp395Val) c.772-1112A>T (n.772-1112A>T) n.991A>T | |
17 | g.46024006C>A | CA399984370 | MAPT | c.1074C>A (p.Asp358Glu) c.987C>A (p.Asp329Glu) c.1161C>A (p.Asp387Glu) n.387C>A n.345C>A n.579C>A c.2337C>A (p.Asp779Glu) c.2046C>A (p.Asp682Glu) c.981C>A (p.Asp327Glu) c.1110C>A (p.Asp370Glu) c.2112C>A (p.Asp704Glu) c.894C>A (p.Asp298Glu) c.2166C>A (p.Asp722Glu) c.1068C>A (p.Asp356Glu) n.6353C>A c.2424C>A (p.Asp808Glu) c.2331C>A (p.Asp777Glu) c.2250C>A (p.Asp750Glu) c.2226C>A (p.Asp742Glu) c.2133C>A (p.Asp711Glu) c.1359C>A (p.Asp453Glu) c.1272C>A (p.Asp424Glu) c.1185C>A (p.Asp395Glu) c.772-1111C>A (n.772-1111C>A) n.992C>A | |
17 | g.46024006C= | CA2262106914 | MAPT | c.1074C= (p.Asp358=) c.987C= (p.Asp329=) c.1161C= (p.Asp387=) n.387C= n.345C= n.579C= c.2337C= (p.Asp779=) c.2046C= (p.Asp682=) c.981C= (p.Asp327=) c.1110C= (p.Asp370=) c.2112C= (p.Asp704=) c.894C= (p.Asp298=) c.2166C= (p.Asp722=) c.1068C= (p.Asp356=) n.6353C= c.2424C= (p.Asp808=) c.2331C= (p.Asp777=) c.2250C= (p.Asp750=) c.2226C= (p.Asp742=) c.2133C= (p.Asp711=) c.1359C= (p.Asp453=) c.1272C= (p.Asp424=) c.1185C= (p.Asp395=) c.772-1111C= (n.772-1111C=) n.992C= | |
17 | g.46024006C>G | CA399984371 | MAPT | c.1074C>G (p.Asp358Glu) c.987C>G (p.Asp329Glu) c.1161C>G (p.Asp387Glu) n.387C>G n.345C>G n.579C>G c.2337C>G (p.Asp779Glu) c.2046C>G (p.Asp682Glu) c.981C>G (p.Asp327Glu) c.1110C>G (p.Asp370Glu) c.2112C>G (p.Asp704Glu) c.894C>G (p.Asp298Glu) c.2166C>G (p.Asp722Glu) c.1068C>G (p.Asp356Glu) n.6353C>G c.2424C>G (p.Asp808Glu) c.2331C>G (p.Asp777Glu) c.2250C>G (p.Asp750Glu) c.2226C>G (p.Asp742Glu) c.2133C>G (p.Asp711Glu) c.1359C>G (p.Asp453Glu) c.1272C>G (p.Asp424Glu) c.1185C>G (p.Asp395Glu) c.772-1111C>G (n.772-1111C>G) n.992C>G | |
17 | g.46024006C>T | CA8618252 | MAPT | c.1074C>T (p.Asp358=) c.987C>T (p.Asp329=) c.1161C>T (p.Asp387=) n.387C>T n.345C>T n.579C>T c.2337C>T (p.Asp779=) c.2046C>T (p.Asp682=) c.981C>T (p.Asp327=) c.1110C>T (p.Asp370=) c.2112C>T (p.Asp704=) c.894C>T (p.Asp298=) c.2166C>T (p.Asp722=) c.1068C>T (p.Asp356=) n.6353C>T c.2424C>T (p.Asp808=) c.2331C>T (p.Asp777=) c.2250C>T (p.Asp750=) c.2226C>T (p.Asp742=) c.2133C>T (p.Asp711=) c.1359C>T (p.Asp453=) c.1272C>T (p.Asp424=) c.1185C>T (p.Asp395=) c.772-1111C>T (n.772-1111C>T) n.992C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.46024007C>A | CA399984372 | MAPT | c.1075C>A (p.His359Asn) c.988C>A (p.His330Asn) c.1162C>A (p.His388Asn) n.388C>A n.346C>A n.580C>A c.2338C>A (p.His780Asn) c.2047C>A (p.His683Asn) c.982C>A (p.His328Asn) c.1111C>A (p.His371Asn) c.2113C>A (p.His705Asn) c.895C>A (p.His299Asn) c.2167C>A (p.His723Asn) c.1069C>A (p.His357Asn) n.6354C>A c.2425C>A (p.His809Asn) c.2332C>A (p.His778Asn) c.2251C>A (p.His751Asn) c.2227C>A (p.His743Asn) c.2134C>A (p.His712Asn) c.1360C>A (p.His454Asn) c.1273C>A (p.His425Asn) c.1186C>A (p.His396Asn) c.772-1110C>A (n.772-1110C>A) n.993C>A | |
17 | g.46024007C>G | CA399984373 | MAPT | c.1075C>G (p.His359Asp) c.988C>G (p.His330Asp) c.1162C>G (p.His388Asp) n.388C>G n.346C>G n.580C>G c.2338C>G (p.His780Asp) c.2047C>G (p.His683Asp) c.982C>G (p.His328Asp) c.1111C>G (p.His371Asp) c.2113C>G (p.His705Asp) c.895C>G (p.His299Asp) c.2167C>G (p.His723Asp) c.1069C>G (p.His357Asp) n.6354C>G c.2425C>G (p.His809Asp) c.2332C>G (p.His778Asp) c.2251C>G (p.His751Asp) c.2227C>G (p.His743Asp) c.2134C>G (p.His712Asp) c.1360C>G (p.His454Asp) c.1273C>G (p.His425Asp) c.1186C>G (p.His396Asp) c.772-1110C>G (n.772-1110C>G) n.993C>G | |
17 | g.46024007C>T | CA399984374 | MAPT | c.1075C>T (p.His359Tyr) c.988C>T (p.His330Tyr) c.1162C>T (p.His388Tyr) n.388C>T n.346C>T n.580C>T c.2338C>T (p.His780Tyr) c.2047C>T (p.His683Tyr) c.982C>T (p.His328Tyr) c.1111C>T (p.His371Tyr) c.2113C>T (p.His705Tyr) c.895C>T (p.His299Tyr) c.2167C>T (p.His723Tyr) c.1069C>T (p.His357Tyr) n.6354C>T c.2425C>T (p.His809Tyr) c.2332C>T (p.His778Tyr) c.2251C>T (p.His751Tyr) c.2227C>T (p.His743Tyr) c.2134C>T (p.His712Tyr) c.1360C>T (p.His454Tyr) c.1273C>T (p.His425Tyr) c.1186C>T (p.His396Tyr) c.772-1110C>T (n.772-1110C>T) n.993C>T | |
17 | g.46024008A>C | CA399984375 | MAPT | c.1076A>C (p.His359Pro) c.989A>C (p.His330Pro) c.1163A>C (p.His388Pro) n.389A>C n.347A>C n.581A>C c.2339A>C (p.His780Pro) c.2048A>C (p.His683Pro) c.983A>C (p.His328Pro) c.1112A>C (p.His371Pro) c.2114A>C (p.His705Pro) c.896A>C (p.His299Pro) c.2168A>C (p.His723Pro) c.1070A>C (p.His357Pro) n.6355A>C c.2426A>C (p.His809Pro) c.2333A>C (p.His778Pro) c.2252A>C (p.His751Pro) c.2228A>C (p.His743Pro) c.2135A>C (p.His712Pro) c.1361A>C (p.His454Pro) c.1274A>C (p.His425Pro) c.1187A>C (p.His396Pro) c.772-1109A>C (n.772-1109A>C) n.994A>C | |
17 | g.46024008A>G | CA399984376 | MAPT | c.1076A>G (p.His359Arg) c.989A>G (p.His330Arg) c.1163A>G (p.His388Arg) n.389A>G n.347A>G n.581A>G c.2339A>G (p.His780Arg) c.2048A>G (p.His683Arg) c.983A>G (p.His328Arg) c.1112A>G (p.His371Arg) c.2114A>G (p.His705Arg) c.896A>G (p.His299Arg) c.2168A>G (p.His723Arg) c.1070A>G (p.His357Arg) n.6355A>G c.2426A>G (p.His809Arg) c.2333A>G (p.His778Arg) c.2252A>G (p.His751Arg) c.2228A>G (p.His743Arg) c.2135A>G (p.His712Arg) c.1361A>G (p.His454Arg) c.1274A>G (p.His425Arg) c.1187A>G (p.His396Arg) c.772-1109A>G (n.772-1109A>G) n.994A>G | |
17 | g.46024008A>T | CA399984377 | MAPT | c.1076A>T (p.His359Leu) c.989A>T (p.His330Leu) c.1163A>T (p.His388Leu) n.389A>T n.347A>T n.581A>T c.2339A>T (p.His780Leu) c.2048A>T (p.His683Leu) c.983A>T (p.His328Leu) c.1112A>T (p.His371Leu) c.2114A>T (p.His705Leu) c.896A>T (p.His299Leu) c.2168A>T (p.His723Leu) c.1070A>T (p.His357Leu) n.6355A>T c.2426A>T (p.His809Leu) c.2333A>T (p.His778Leu) c.2252A>T (p.His751Leu) c.2228A>T (p.His743Leu) c.2135A>T (p.His712Leu) c.1361A>T (p.His454Leu) c.1274A>T (p.His425Leu) c.1187A>T (p.His396Leu) c.772-1109A>T (n.772-1109A>T) n.994A>T | |
17 | g.46024009C>A | CA399984378 | MAPT | c.1077C>A (p.His359Gln) c.990C>A (p.His330Gln) c.1164C>A (p.His388Gln) n.390C>A n.348C>A n.582C>A c.2340C>A (p.His780Gln) c.2049C>A (p.His683Gln) c.984C>A (p.His328Gln) c.1113C>A (p.His371Gln) c.2115C>A (p.His705Gln) c.897C>A (p.His299Gln) c.2169C>A (p.His723Gln) c.1071C>A (p.His357Gln) n.6356C>A c.2427C>A (p.His809Gln) c.2334C>A (p.His778Gln) c.2253C>A (p.His751Gln) c.2229C>A (p.His743Gln) c.2136C>A (p.His712Gln) c.1362C>A (p.His454Gln) c.1275C>A (p.His425Gln) c.1188C>A (p.His396Gln) c.772-1108C>A (n.772-1108C>A) n.995C>A | |
17 | g.46024009C= | CA2262106915 | MAPT | c.1077C= (p.His359=) c.990C= (p.His330=) c.1164C= (p.His388=) n.390C= n.348C= n.582C= c.2340C= (p.His780=) c.2049C= (p.His683=) c.984C= (p.His328=) c.1113C= (p.His371=) c.2115C= (p.His705=) c.897C= (p.His299=) c.2169C= (p.His723=) c.1071C= (p.His357=) n.6356C= c.2427C= (p.His809=) c.2334C= (p.His778=) c.2253C= (p.His751=) c.2229C= (p.His743=) c.2136C= (p.His712=) c.1362C= (p.His454=) c.1275C= (p.His425=) c.1188C= (p.His396=) c.772-1108C= (n.772-1108C=) n.995C= | |
17 | g.46024009C>G | CA399984379 | MAPT | c.1077C>G (p.His359Gln) c.990C>G (p.His330Gln) c.1164C>G (p.His388Gln) n.390C>G n.348C>G n.582C>G c.2340C>G (p.His780Gln) c.2049C>G (p.His683Gln) c.984C>G (p.His328Gln) c.1113C>G (p.His371Gln) c.2115C>G (p.His705Gln) c.897C>G (p.His299Gln) c.2169C>G (p.His723Gln) c.1071C>G (p.His357Gln) n.6356C>G c.2427C>G (p.His809Gln) c.2334C>G (p.His778Gln) c.2253C>G (p.His751Gln) c.2229C>G (p.His743Gln) c.2136C>G (p.His712Gln) c.1362C>G (p.His454Gln) c.1275C>G (p.His425Gln) c.1188C>G (p.His396Gln) c.772-1108C>G (n.772-1108C>G) n.995C>G | |
17 | g.46024009C>T | CA8618253 | MAPT | c.1077C>T (p.His359=) c.990C>T (p.His330=) c.1164C>T (p.His388=) n.390C>T n.348C>T n.582C>T c.2340C>T (p.His780=) c.2049C>T (p.His683=) c.984C>T (p.His328=) c.1113C>T (p.His371=) c.2115C>T (p.His705=) c.897C>T (p.His299=) c.2169C>T (p.His723=) c.1071C>T (p.His357=) n.6356C>T c.2427C>T (p.His809=) c.2334C>T (p.His778=) c.2253C>T (p.His751=) c.2229C>T (p.His743=) c.2136C>T (p.His712=) c.1362C>T (p.His454=) c.1275C>T (p.His425=) c.1188C>T (p.His396=) c.772-1108C>T (n.772-1108C>T) n.995C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46024011_46024022del | CA2695226186 | MAPT | c.1079_1090del (p.Gly360_Ile363del) c.992_1003del (p.Gly331_Ile334del) c.1166_1177del (p.Gly389_Ile392del) n.392_403del n.350_361del n.584_595del c.2342_2353del (p.Gly781_Ile784del) c.2051_2062del (p.Gly684_Ile687del) c.986_997del (p.Gly329_Ile332del) c.1115_1126del (p.Gly372_Ile375del) c.2117_2128del (p.Gly706_Ile709del) c.899_910del (p.Gly300_Ile303del) c.2171_2182del (p.Gly724_Ile727del) c.1073_1084del (p.Gly358_Ile361del) n.6358_6369del c.2429_2440del (p.Gly810_Ile813del) c.2336_2347del (p.Gly779_Ile782del) c.2255_2266del (p.Gly752_Ile755del) c.2231_2242del (p.Gly744_Ile747del) c.2138_2149del (p.Gly713_Ile716del) c.1364_1375del (p.Gly455_Ile458del) c.1277_1288del (p.Gly426_Ile429del) c.1190_1201del (p.Gly397_Ile400del) c.772-1106_772-1095del (n.772-1106_772-1095del) n.997_1008del | |
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 |
17 | g.46024010G= | CA2262106916 | MAPT | c.1078G= (p.Gly360=) c.991G= (p.Gly331=) c.1165G= (p.Gly389=) n.391G= n.349G= n.583G= c.2341G= (p.Gly781=) c.2050G= (p.Gly684=) c.985G= (p.Gly329=) c.1114G= (p.Gly372=) c.2116G= (p.Gly706=) c.898G= (p.Gly300=) c.2170G= (p.Gly724=) c.1072G= (p.Gly358=) n.6357G= c.2428G= (p.Gly810=) c.2335G= (p.Gly779=) c.2254G= (p.Gly752=) c.2230G= (p.Gly744=) c.2137G= (p.Gly713=) c.1363G= (p.Gly455=) c.1276G= (p.Gly426=) c.1189G= (p.Gly397=) c.772-1107G= (n.772-1107G=) n.996G= | |
17 | g.46024010G>T | CA399984380 | MAPT | c.1078G>T (p.Gly360Trp) c.991G>T (p.Gly331Trp) c.1165G>T (p.Gly389Trp) n.391G>T n.349G>T n.583G>T c.2341G>T (p.Gly781Trp) c.2050G>T (p.Gly684Trp) c.985G>T (p.Gly329Trp) c.1114G>T (p.Gly372Trp) c.2116G>T (p.Gly706Trp) c.898G>T (p.Gly300Trp) c.2170G>T (p.Gly724Trp) c.1072G>T (p.Gly358Trp) n.6357G>T c.2428G>T (p.Gly810Trp) c.2335G>T (p.Gly779Trp) c.2254G>T (p.Gly752Trp) c.2230G>T (p.Gly744Trp) c.2137G>T (p.Gly713Trp) c.1363G>T (p.Gly455Trp) c.1276G>T (p.Gly426Trp) c.1189G>T (p.Gly397Trp) c.772-1107G>T (n.772-1107G>T) n.996G>T | |
17 | g.46024013dup | CA2840625564 | MAPT | c.1081dup (p.Ala361GlyfsTer?) c.994dup (p.Ala332GlyfsTer?) c.1168dup (p.Ala390GlyfsTer?) n.394dup n.352dup n.586dup c.2344dup (p.Ala782GlyfsTer?) c.2053dup (p.Ala685GlyfsTer?) c.988dup (p.Ala330GlyfsTer?) c.1117dup (p.Ala373GlyfsTer?) c.2119dup (p.Ala707GlyfsTer?) c.901dup (p.Ala301GlyfsTer?) c.2173dup (p.Ala725GlyfsTer?) c.1075dup (p.Ala359GlyfsTer?) n.6360dup c.2431dup (p.Ala811GlyfsTer?) c.2338dup (p.Ala780GlyfsTer?) c.2257dup (p.Ala753GlyfsTer?) c.2233dup (p.Ala745GlyfsTer?) c.2140dup (p.Ala714GlyfsTer?) c.1366dup (p.Ala456GlyfsTer?) c.1279dup (p.Ala427GlyfsTer?) c.1192dup (p.Ala398GlyfsTer?) c.772-1104dup (n.772-1104dup) n.999dup | |
17 | g.46024011G>A | CA399984381 | MAPT | c.1079G>A (p.Gly360Glu) c.992G>A (p.Gly331Glu) c.1166G>A (p.Gly389Glu) n.392G>A n.350G>A n.584G>A c.2342G>A (p.Gly781Glu) c.2051G>A (p.Gly684Glu) c.986G>A (p.Gly329Glu) c.1115G>A (p.Gly372Glu) c.2117G>A (p.Gly706Glu) c.899G>A (p.Gly300Glu) c.2171G>A (p.Gly724Glu) c.1073G>A (p.Gly358Glu) n.6358G>A c.2429G>A (p.Gly810Glu) c.2336G>A (p.Gly779Glu) c.2255G>A (p.Gly752Glu) c.2231G>A (p.Gly744Glu) c.2138G>A (p.Gly713Glu) c.1364G>A (p.Gly455Glu) c.1277G>A (p.Gly426Glu) c.1190G>A (p.Gly397Glu) c.772-1106G>A (n.772-1106G>A) n.997G>A | |
17 | g.46024011G>C | CA399984382 | MAPT | c.1079G>C (p.Gly360Ala) c.992G>C (p.Gly331Ala) c.1166G>C (p.Gly389Ala) n.392G>C n.350G>C n.584G>C c.2342G>C (p.Gly781Ala) c.2051G>C (p.Gly684Ala) c.986G>C (p.Gly329Ala) c.1115G>C (p.Gly372Ala) c.2117G>C (p.Gly706Ala) c.899G>C (p.Gly300Ala) c.2171G>C (p.Gly724Ala) c.1073G>C (p.Gly358Ala) n.6358G>C c.2429G>C (p.Gly810Ala) c.2336G>C (p.Gly779Ala) c.2255G>C (p.Gly752Ala) c.2231G>C (p.Gly744Ala) c.2138G>C (p.Gly713Ala) c.1364G>C (p.Gly455Ala) c.1277G>C (p.Gly426Ala) c.1190G>C (p.Gly397Ala) c.772-1106G>C (n.772-1106G>C) n.997G>C | |
17 | g.46024011G>T | CA399984383 | MAPT | c.1079G>T (p.Gly360Val) c.992G>T (p.Gly331Val) c.1166G>T (p.Gly389Val) n.392G>T n.350G>T n.584G>T c.2342G>T (p.Gly781Val) c.2051G>T (p.Gly684Val) c.986G>T (p.Gly329Val) c.1115G>T (p.Gly372Val) c.2117G>T (p.Gly706Val) c.899G>T (p.Gly300Val) c.2171G>T (p.Gly724Val) c.1073G>T (p.Gly358Val) n.6358G>T c.2429G>T (p.Gly810Val) c.2336G>T (p.Gly779Val) c.2255G>T (p.Gly752Val) c.2231G>T (p.Gly744Val) c.2138G>T (p.Gly713Val) c.1364G>T (p.Gly455Val) c.1277G>T (p.Gly426Val) c.1190G>T (p.Gly397Val) c.772-1106G>T (n.772-1106G>T) n.997G>T | |
17 | g.46024012G>A | CA500371426 | MAPT | c.1080G>A (p.Gly360=) c.993G>A (p.Gly331=) c.1167G>A (p.Gly389=) n.393G>A n.351G>A n.585G>A c.2343G>A (p.Gly781=) c.2052G>A (p.Gly684=) c.987G>A (p.Gly329=) c.1116G>A (p.Gly372=) c.2118G>A (p.Gly706=) c.900G>A (p.Gly300=) c.2172G>A (p.Gly724=) c.1074G>A (p.Gly358=) n.6359G>A c.2430G>A (p.Gly810=) c.2337G>A (p.Gly779=) c.2256G>A (p.Gly752=) c.2232G>A (p.Gly744=) c.2139G>A (p.Gly713=) c.1365G>A (p.Gly455=) c.1278G>A (p.Gly426=) c.1191G>A (p.Gly397=) c.772-1105G>A (n.772-1105G>A) n.998G>A | gnomAD v4 |
17 | g.46024012G>C | CA500371428 | MAPT | c.1080G>C (p.Gly360=) c.993G>C (p.Gly331=) c.1167G>C (p.Gly389=) n.393G>C n.351G>C n.585G>C c.2343G>C (p.Gly781=) c.2052G>C (p.Gly684=) c.987G>C (p.Gly329=) c.1116G>C (p.Gly372=) c.2118G>C (p.Gly706=) c.900G>C (p.Gly300=) c.2172G>C (p.Gly724=) c.1074G>C (p.Gly358=) n.6359G>C c.2430G>C (p.Gly810=) c.2337G>C (p.Gly779=) c.2256G>C (p.Gly752=) c.2232G>C (p.Gly744=) c.2139G>C (p.Gly713=) c.1365G>C (p.Gly455=) c.1278G>C (p.Gly426=) c.1191G>C (p.Gly397=) c.772-1105G>C (n.772-1105G>C) n.998G>C | dbSNP |
17 | g.46024012G= | CA2262106917 | MAPT | c.1080G= (p.Gly360=) c.993G= (p.Gly331=) c.1167G= (p.Gly389=) n.393G= n.351G= n.585G= c.2343G= (p.Gly781=) c.2052G= (p.Gly684=) c.987G= (p.Gly329=) c.1116G= (p.Gly372=) c.2118G= (p.Gly706=) c.900G= (p.Gly300=) c.2172G= (p.Gly724=) c.1074G= (p.Gly358=) n.6359G= c.2430G= (p.Gly810=) c.2337G= (p.Gly779=) c.2256G= (p.Gly752=) c.2232G= (p.Gly744=) c.2139G= (p.Gly713=) c.1365G= (p.Gly455=) c.1278G= (p.Gly426=) c.1191G= (p.Gly397=) c.772-1105G= (n.772-1105G=) n.998G= | |
17 | g.46024012G>T | CA500371424 | MAPT | c.1080G>T (p.Gly360=) c.993G>T (p.Gly331=) c.1167G>T (p.Gly389=) n.393G>T n.351G>T n.585G>T c.2343G>T (p.Gly781=) c.2052G>T (p.Gly684=) c.987G>T (p.Gly329=) c.1116G>T (p.Gly372=) c.2118G>T (p.Gly706=) c.900G>T (p.Gly300=) c.2172G>T (p.Gly724=) c.1074G>T (p.Gly358=) n.6359G>T c.2430G>T (p.Gly810=) c.2337G>T (p.Gly779=) c.2256G>T (p.Gly752=) c.2232G>T (p.Gly744=) c.2139G>T (p.Gly713=) c.1365G>T (p.Gly455=) c.1278G>T (p.Gly426=) c.1191G>T (p.Gly397=) c.772-1105G>T (n.772-1105G>T) n.998G>T | |
17 | g.46024013G>A | CA399984384 | MAPT | c.1081G>A (p.Ala361Thr) c.994G>A (p.Ala332Thr) c.1168G>A (p.Ala390Thr) n.394G>A n.352G>A n.586G>A c.2344G>A (p.Ala782Thr) c.2053G>A (p.Ala685Thr) c.988G>A (p.Ala330Thr) c.1117G>A (p.Ala373Thr) c.2119G>A (p.Ala707Thr) c.901G>A (p.Ala301Thr) c.2173G>A (p.Ala725Thr) c.1075G>A (p.Ala359Thr) n.6360G>A c.2431G>A (p.Ala811Thr) c.2338G>A (p.Ala780Thr) c.2257G>A (p.Ala753Thr) c.2233G>A (p.Ala745Thr) c.2140G>A (p.Ala714Thr) c.1366G>A (p.Ala456Thr) c.1279G>A (p.Ala427Thr) c.1192G>A (p.Ala398Thr) c.772-1104G>A (n.772-1104G>A) n.999G>A | ClinVar dbSNP |
17 | g.46024013G>C | CA399984385 | MAPT | c.1081G>C (p.Ala361Pro) c.994G>C (p.Ala332Pro) c.1168G>C (p.Ala390Pro) n.394G>C n.352G>C n.586G>C c.2344G>C (p.Ala782Pro) c.2053G>C (p.Ala685Pro) c.988G>C (p.Ala330Pro) c.1117G>C (p.Ala373Pro) c.2119G>C (p.Ala707Pro) c.901G>C (p.Ala301Pro) c.2173G>C (p.Ala725Pro) c.1075G>C (p.Ala359Pro) n.6360G>C c.2431G>C (p.Ala811Pro) c.2338G>C (p.Ala780Pro) c.2257G>C (p.Ala753Pro) c.2233G>C (p.Ala745Pro) c.2140G>C (p.Ala714Pro) c.1366G>C (p.Ala456Pro) c.1279G>C (p.Ala427Pro) c.1192G>C (p.Ala398Pro) c.772-1104G>C (n.772-1104G>C) n.999G>C | |
17 | g.46024013G>T | CA399984386 | MAPT | c.1081G>T (p.Ala361Ser) c.994G>T (p.Ala332Ser) c.1168G>T (p.Ala390Ser) n.394G>T n.352G>T n.586G>T c.2344G>T (p.Ala782Ser) c.2053G>T (p.Ala685Ser) c.988G>T (p.Ala330Ser) c.1117G>T (p.Ala373Ser) c.2119G>T (p.Ala707Ser) c.901G>T (p.Ala301Ser) c.2173G>T (p.Ala725Ser) c.1075G>T (p.Ala359Ser) n.6360G>T c.2431G>T (p.Ala811Ser) c.2338G>T (p.Ala780Ser) c.2257G>T (p.Ala753Ser) c.2233G>T (p.Ala745Ser) c.2140G>T (p.Ala714Ser) c.1366G>T (p.Ala456Ser) c.1279G>T (p.Ala427Ser) c.1192G>T (p.Ala398Ser) c.772-1104G>T (n.772-1104G>T) n.999G>T | |
17 | g.46024014C>A | CA399984388 | MAPT | c.1082C>A (p.Ala361Glu) c.995C>A (p.Ala332Glu) c.1169C>A (p.Ala390Glu) n.395C>A n.353C>A n.587C>A c.2345C>A (p.Ala782Glu) c.2054C>A (p.Ala685Glu) c.989C>A (p.Ala330Glu) c.1118C>A (p.Ala373Glu) c.2120C>A (p.Ala707Glu) c.902C>A (p.Ala301Glu) c.2174C>A (p.Ala725Glu) c.1076C>A (p.Ala359Glu) n.6361C>A c.2432C>A (p.Ala811Glu) c.2339C>A (p.Ala780Glu) c.2258C>A (p.Ala753Glu) c.2234C>A (p.Ala745Glu) c.2141C>A (p.Ala714Glu) c.1367C>A (p.Ala456Glu) c.1280C>A (p.Ala427Glu) c.1193C>A (p.Ala398Glu) c.772-1103C>A (n.772-1103C>A) n.1000C>A | |
17 | g.46024014C= | CA2262106918 | MAPT | c.1082C= (p.Ala361=) c.995C= (p.Ala332=) c.1169C= (p.Ala390=) n.395C= n.353C= n.587C= c.2345C= (p.Ala782=) c.2054C= (p.Ala685=) c.989C= (p.Ala330=) c.1118C= (p.Ala373=) c.2120C= (p.Ala707=) c.902C= (p.Ala301=) c.2174C= (p.Ala725=) c.1076C= (p.Ala359=) n.6361C= c.2432C= (p.Ala811=) c.2339C= (p.Ala780=) c.2258C= (p.Ala753=) c.2234C= (p.Ala745=) c.2141C= (p.Ala714=) c.1367C= (p.Ala456=) c.1280C= (p.Ala427=) c.1193C= (p.Ala398=) c.772-1103C= (n.772-1103C=) n.1000C= | |
17 | g.46024014C>G | CA399984387 | MAPT | c.1082C>G (p.Ala361Gly) c.995C>G (p.Ala332Gly) c.1169C>G (p.Ala390Gly) n.395C>G n.353C>G n.587C>G c.2345C>G (p.Ala782Gly) c.2054C>G (p.Ala685Gly) c.989C>G (p.Ala330Gly) c.1118C>G (p.Ala373Gly) c.2120C>G (p.Ala707Gly) c.902C>G (p.Ala301Gly) c.2174C>G (p.Ala725Gly) c.1076C>G (p.Ala359Gly) n.6361C>G c.2432C>G (p.Ala811Gly) c.2339C>G (p.Ala780Gly) c.2258C>G (p.Ala753Gly) c.2234C>G (p.Ala745Gly) c.2141C>G (p.Ala714Gly) c.1367C>G (p.Ala456Gly) c.1280C>G (p.Ala427Gly) c.1193C>G (p.Ala398Gly) c.772-1103C>G (n.772-1103C>G) n.1000C>G | |
17 | g.46024014C>T | CA8618254 | MAPT | c.1082C>T (p.Ala361Val) c.995C>T (p.Ala332Val) c.1169C>T (p.Ala390Val) n.395C>T n.353C>T n.587C>T c.2345C>T (p.Ala782Val) c.2054C>T (p.Ala685Val) c.989C>T (p.Ala330Val) c.1118C>T (p.Ala373Val) c.2120C>T (p.Ala707Val) c.902C>T (p.Ala301Val) c.2174C>T (p.Ala725Val) c.1076C>T (p.Ala359Val) n.6361C>T c.2432C>T (p.Ala811Val) c.2339C>T (p.Ala780Val) c.2258C>T (p.Ala753Val) c.2234C>T (p.Ala745Val) c.2141C>T (p.Ala714Val) c.1367C>T (p.Ala456Val) c.1280C>T (p.Ala427Val) c.1193C>T (p.Ala398Val) c.772-1103C>T (n.772-1103C>T) n.1000C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46024015G>A | CA8618255 | MAPT | c.1083G>A (p.Ala361=) c.996G>A (p.Ala332=) c.1170G>A (p.Ala390=) n.396G>A n.354G>A n.588G>A c.2346G>A (p.Ala782=) c.2055G>A (p.Ala685=) c.990G>A (p.Ala330=) c.1119G>A (p.Ala373=) c.2121G>A (p.Ala707=) c.903G>A (p.Ala301=) c.2175G>A (p.Ala725=) c.1077G>A (p.Ala359=) n.6362G>A c.2433G>A (p.Ala811=) c.2340G>A (p.Ala780=) c.2259G>A (p.Ala753=) c.2235G>A (p.Ala745=) c.2142G>A (p.Ala714=) c.1368G>A (p.Ala456=) c.1281G>A (p.Ala427=) c.1194G>A (p.Ala398=) c.772-1102G>A (n.772-1102G>A) n.1001G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46024015G>C | CA500371431 | MAPT | c.1083G>C (p.Ala361=) c.996G>C (p.Ala332=) c.1170G>C (p.Ala390=) n.396G>C n.354G>C n.588G>C c.2346G>C (p.Ala782=) c.2055G>C (p.Ala685=) c.990G>C (p.Ala330=) c.1119G>C (p.Ala373=) c.2121G>C (p.Ala707=) c.903G>C (p.Ala301=) c.2175G>C (p.Ala725=) c.1077G>C (p.Ala359=) n.6362G>C c.2433G>C (p.Ala811=) c.2340G>C (p.Ala780=) c.2259G>C (p.Ala753=) c.2235G>C (p.Ala745=) c.2142G>C (p.Ala714=) c.1368G>C (p.Ala456=) c.1281G>C (p.Ala427=) c.1194G>C (p.Ala398=) c.772-1102G>C (n.772-1102G>C) n.1001G>C | |
17 | g.46024015G= | CA2262106919 | MAPT | c.1083G= (p.Ala361=) c.996G= (p.Ala332=) c.1170G= (p.Ala390=) n.396G= n.354G= n.588G= c.2346G= (p.Ala782=) c.2055G= (p.Ala685=) c.990G= (p.Ala330=) c.1119G= (p.Ala373=) c.2121G= (p.Ala707=) c.903G= (p.Ala301=) c.2175G= (p.Ala725=) c.1077G= (p.Ala359=) n.6362G= c.2433G= (p.Ala811=) c.2340G= (p.Ala780=) c.2259G= (p.Ala753=) c.2235G= (p.Ala745=) c.2142G= (p.Ala714=) c.1368G= (p.Ala456=) c.1281G= (p.Ala427=) c.1194G= (p.Ala398=) c.772-1102G= (n.772-1102G=) n.1001G= | |
17 | g.46024015G>T | CA500371430 | MAPT | c.1083G>T (p.Ala361=) c.996G>T (p.Ala332=) c.1170G>T (p.Ala390=) n.396G>T n.354G>T n.588G>T c.2346G>T (p.Ala782=) c.2055G>T (p.Ala685=) c.990G>T (p.Ala330=) c.1119G>T (p.Ala373=) c.2121G>T (p.Ala707=) c.903G>T (p.Ala301=) c.2175G>T (p.Ala725=) c.1077G>T (p.Ala359=) n.6362G>T c.2433G>T (p.Ala811=) c.2340G>T (p.Ala780=) c.2259G>T (p.Ala753=) c.2235G>T (p.Ala745=) c.2142G>T (p.Ala714=) c.1368G>T (p.Ala456=) c.1281G>T (p.Ala427=) c.1194G>T (p.Ala398=) c.772-1102G>T (n.772-1102G>T) n.1001G>T | |
17 | g.46024016dup | CA2840625565 | MAPT | c.1084dup (p.Glu362GlyfsTer?) c.997dup (p.Glu333GlyfsTer?) c.1171dup (p.Glu391GlyfsTer?) n.397dup n.355dup n.589dup c.2347dup (p.Glu783GlyfsTer?) c.2056dup (p.Glu686GlyfsTer?) c.991dup (p.Glu331GlyfsTer?) c.1120dup (p.Glu374GlyfsTer?) c.2122dup (p.Glu708GlyfsTer?) c.904dup (p.Glu302GlyfsTer?) c.2176dup (p.Glu726GlyfsTer?) c.1078dup (p.Glu360GlyfsTer?) n.6363dup c.2434dup (p.Glu812GlyfsTer?) c.2341dup (p.Glu781GlyfsTer?) c.2260dup (p.Glu754GlyfsTer?) c.2236dup (p.Glu746GlyfsTer?) c.2143dup (p.Glu715GlyfsTer?) c.1369dup (p.Glu457GlyfsTer?) c.1282dup (p.Glu428GlyfsTer?) c.1195dup (p.Glu399GlyfsTer?) c.772-1101dup (n.772-1101dup) n.1002dup | |
17 | g.46024016G>A | CA399984389 | MAPT | c.1084G>A (p.Glu362Lys) c.997G>A (p.Glu333Lys) c.1171G>A (p.Glu391Lys) n.397G>A n.355G>A n.589G>A c.2347G>A (p.Glu783Lys) c.2056G>A (p.Glu686Lys) c.991G>A (p.Glu331Lys) c.1120G>A (p.Glu374Lys) c.2122G>A (p.Glu708Lys) c.904G>A (p.Glu302Lys) c.2176G>A (p.Glu726Lys) c.1078G>A (p.Glu360Lys) n.6363G>A c.2434G>A (p.Glu812Lys) c.2341G>A (p.Glu781Lys) c.2260G>A (p.Glu754Lys) c.2236G>A (p.Glu746Lys) c.2143G>A (p.Glu715Lys) c.1369G>A (p.Glu457Lys) c.1282G>A (p.Glu428Lys) c.1195G>A (p.Glu399Lys) c.772-1101G>A (n.772-1101G>A) n.1002G>A | COSMIC COSMIC |
17 | g.46024016G>C | CA399984390 | MAPT | c.1084G>C (p.Glu362Gln) c.997G>C (p.Glu333Gln) c.1171G>C (p.Glu391Gln) n.397G>C n.355G>C n.589G>C c.2347G>C (p.Glu783Gln) c.2056G>C (p.Glu686Gln) c.991G>C (p.Glu331Gln) c.1120G>C (p.Glu374Gln) c.2122G>C (p.Glu708Gln) c.904G>C (p.Glu302Gln) c.2176G>C (p.Glu726Gln) c.1078G>C (p.Glu360Gln) n.6363G>C c.2434G>C (p.Glu812Gln) c.2341G>C (p.Glu781Gln) c.2260G>C (p.Glu754Gln) c.2236G>C (p.Glu746Gln) c.2143G>C (p.Glu715Gln) c.1369G>C (p.Glu457Gln) c.1282G>C (p.Glu428Gln) c.1195G>C (p.Glu399Gln) c.772-1101G>C (n.772-1101G>C) n.1002G>C | |
17 | g.46024016G>T | CA399984391 | MAPT | c.1084G>T (p.Glu362Ter) c.997G>T (p.Glu333Ter) c.1171G>T (p.Glu391Ter) n.397G>T n.355G>T n.589G>T c.2347G>T (p.Glu783Ter) c.2056G>T (p.Glu686Ter) c.991G>T (p.Glu331Ter) c.1120G>T (p.Glu374Ter) c.2122G>T (p.Glu708Ter) c.904G>T (p.Glu302Ter) c.2176G>T (p.Glu726Ter) c.1078G>T (p.Glu360Ter) n.6363G>T c.2434G>T (p.Glu812Ter) c.2341G>T (p.Glu781Ter) c.2260G>T (p.Glu754Ter) c.2236G>T (p.Glu746Ter) c.2143G>T (p.Glu715Ter) c.1369G>T (p.Glu457Ter) c.1282G>T (p.Glu428Ter) c.1195G>T (p.Glu399Ter) c.772-1101G>T (n.772-1101G>T) n.1002G>T | |
17 | g.46024017A>C | CA399984392 | MAPT | c.1085A>C (p.Glu362Ala) c.998A>C (p.Glu333Ala) c.1172A>C (p.Glu391Ala) n.398A>C n.356A>C n.590A>C c.2348A>C (p.Glu783Ala) c.2057A>C (p.Glu686Ala) c.992A>C (p.Glu331Ala) c.1121A>C (p.Glu374Ala) c.2123A>C (p.Glu708Ala) c.905A>C (p.Glu302Ala) c.2177A>C (p.Glu726Ala) c.1079A>C (p.Glu360Ala) n.6364A>C c.2435A>C (p.Glu812Ala) c.2342A>C (p.Glu781Ala) c.2261A>C (p.Glu754Ala) c.2237A>C (p.Glu746Ala) c.2144A>C (p.Glu715Ala) c.1370A>C (p.Glu457Ala) c.1283A>C (p.Glu428Ala) c.1196A>C (p.Glu399Ala) c.772-1100A>C (n.772-1100A>C) n.1003A>C | |
17 | g.46024017A>G | CA399984393 | MAPT | c.1085A>G (p.Glu362Gly) c.998A>G (p.Glu333Gly) c.1172A>G (p.Glu391Gly) n.398A>G n.356A>G n.590A>G c.2348A>G (p.Glu783Gly) c.2057A>G (p.Glu686Gly) c.992A>G (p.Glu331Gly) c.1121A>G (p.Glu374Gly) c.2123A>G (p.Glu708Gly) c.905A>G (p.Glu302Gly) c.2177A>G (p.Glu726Gly) c.1079A>G (p.Glu360Gly) n.6364A>G c.2435A>G (p.Glu812Gly) c.2342A>G (p.Glu781Gly) c.2261A>G (p.Glu754Gly) c.2237A>G (p.Glu746Gly) c.2144A>G (p.Glu715Gly) c.1370A>G (p.Glu457Gly) c.1283A>G (p.Glu428Gly) c.1196A>G (p.Glu399Gly) c.772-1100A>G (n.772-1100A>G) n.1003A>G | |
17 | g.46024017A>T | CA399984394 | MAPT | c.1085A>T (p.Glu362Val) c.998A>T (p.Glu333Val) c.1172A>T (p.Glu391Val) n.398A>T n.356A>T n.590A>T c.2348A>T (p.Glu783Val) c.2057A>T (p.Glu686Val) c.992A>T (p.Glu331Val) c.1121A>T (p.Glu374Val) c.2123A>T (p.Glu708Val) c.905A>T (p.Glu302Val) c.2177A>T (p.Glu726Val) c.1079A>T (p.Glu360Val) n.6364A>T c.2435A>T (p.Glu812Val) c.2342A>T (p.Glu781Val) c.2261A>T (p.Glu754Val) c.2237A>T (p.Glu746Val) c.2144A>T (p.Glu715Val) c.1370A>T (p.Glu457Val) c.1283A>T (p.Glu428Val) c.1196A>T (p.Glu399Val) c.772-1100A>T (n.772-1100A>T) n.1003A>T | |
17 | g.46024017dup | CA2838429067 | MAPT | c.1085dup (p.Ile363AspfsTer?) c.998dup (p.Ile334AspfsTer?) c.1172dup (p.Ile392AspfsTer?) n.398dup n.356dup n.590dup c.2348dup (p.Ile784AspfsTer?) c.2057dup (p.Ile687AspfsTer?) c.992dup (p.Ile332AspfsTer?) c.1121dup (p.Ile375AspfsTer?) c.2123dup (p.Ile709AspfsTer?) c.905dup (p.Ile303AspfsTer?) c.2177dup (p.Ile727AspfsTer?) c.1079dup (p.Ile361AspfsTer?) n.6364dup c.2435dup (p.Ile813AspfsTer?) c.2342dup (p.Ile782AspfsTer?) c.2261dup (p.Ile755AspfsTer?) c.2237dup (p.Ile747AspfsTer?) c.2144dup (p.Ile716AspfsTer?) c.1370dup (p.Ile458AspfsTer?) c.1283dup (p.Ile429AspfsTer?) c.1196dup (p.Ile400AspfsTer?) c.772-1100dup (n.772-1100dup) n.1003dup | |
17 | g.46024018G>A | CA8618256 | MAPT | c.1086G>A (p.Glu362=) c.999G>A (p.Glu333=) c.1173G>A (p.Glu391=) n.399G>A n.357G>A n.591G>A c.2349G>A (p.Glu783=) c.2058G>A (p.Glu686=) c.993G>A (p.Glu331=) c.1122G>A (p.Glu374=) c.2124G>A (p.Glu708=) c.906G>A (p.Glu302=) c.2178G>A (p.Glu726=) c.1080G>A (p.Glu360=) n.6365G>A c.2436G>A (p.Glu812=) c.2343G>A (p.Glu781=) c.2262G>A (p.Glu754=) c.2238G>A (p.Glu746=) c.2145G>A (p.Glu715=) c.1371G>A (p.Glu457=) c.1284G>A (p.Glu428=) c.1197G>A (p.Glu399=) c.772-1099G>A (n.772-1099G>A) n.1004G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46024018G>C | CA399984395 | MAPT | c.1086G>C (p.Glu362Asp) c.999G>C (p.Glu333Asp) c.1173G>C (p.Glu391Asp) n.399G>C n.357G>C n.591G>C c.2349G>C (p.Glu783Asp) c.2058G>C (p.Glu686Asp) c.993G>C (p.Glu331Asp) c.1122G>C (p.Glu374Asp) c.2124G>C (p.Glu708Asp) c.906G>C (p.Glu302Asp) c.2178G>C (p.Glu726Asp) c.1080G>C (p.Glu360Asp) n.6365G>C c.2436G>C (p.Glu812Asp) c.2343G>C (p.Glu781Asp) c.2262G>C (p.Glu754Asp) c.2238G>C (p.Glu746Asp) c.2145G>C (p.Glu715Asp) c.1371G>C (p.Glu457Asp) c.1284G>C (p.Glu428Asp) c.1197G>C (p.Glu399Asp) c.772-1099G>C (n.772-1099G>C) n.1004G>C | |
17 | g.46024018G= | CA2262106920 | MAPT | c.1086G= (p.Glu362=) c.999G= (p.Glu333=) c.1173G= (p.Glu391=) n.399G= n.357G= n.591G= c.2349G= (p.Glu783=) c.2058G= (p.Glu686=) c.993G= (p.Glu331=) c.1122G= (p.Glu374=) c.2124G= (p.Glu708=) c.906G= (p.Glu302=) c.2178G= (p.Glu726=) c.1080G= (p.Glu360=) n.6365G= c.2436G= (p.Glu812=) c.2343G= (p.Glu781=) c.2262G= (p.Glu754=) c.2238G= (p.Glu746=) c.2145G= (p.Glu715=) c.1371G= (p.Glu457=) c.1284G= (p.Glu428=) c.1197G= (p.Glu399=) c.772-1099G= (n.772-1099G=) n.1004G= | |
17 | g.46024018G>T | CA399984396 | MAPT | c.1086G>T (p.Glu362Asp) c.999G>T (p.Glu333Asp) c.1173G>T (p.Glu391Asp) n.399G>T n.357G>T n.591G>T c.2349G>T (p.Glu783Asp) c.2058G>T (p.Glu686Asp) c.993G>T (p.Glu331Asp) c.1122G>T (p.Glu374Asp) c.2124G>T (p.Glu708Asp) c.906G>T (p.Glu302Asp) c.2178G>T (p.Glu726Asp) c.1080G>T (p.Glu360Asp) n.6365G>T c.2436G>T (p.Glu812Asp) c.2343G>T (p.Glu781Asp) c.2262G>T (p.Glu754Asp) c.2238G>T (p.Glu746Asp) c.2145G>T (p.Glu715Asp) c.1371G>T (p.Glu457Asp) c.1284G>T (p.Glu428Asp) c.1197G>T (p.Glu399Asp) c.772-1099G>T (n.772-1099G>T) n.1004G>T | dbSNP gnomAD v2 |
17 | g.46024019A= | CA2262106921 | MAPT | c.1087A= (p.Ile363=) c.1000A= (p.Ile334=) c.1174A= (p.Ile392=) n.400A= n.358A= n.592A= c.2350A= (p.Ile784=) c.2059A= (p.Ile687=) c.994A= (p.Ile332=) c.1123A= (p.Ile375=) c.2125A= (p.Ile709=) c.907A= (p.Ile303=) c.2179A= (p.Ile727=) c.1081A= (p.Ile361=) n.6366A= c.2437A= (p.Ile813=) c.2344A= (p.Ile782=) c.2263A= (p.Ile755=) c.2239A= (p.Ile747=) c.2146A= (p.Ile716=) c.1372A= (p.Ile458=) c.1285A= (p.Ile429=) c.1198A= (p.Ile400=) c.772-1098A= (n.772-1098A=) n.1005A= | |
17 | g.46024019A>C | CA399984397 | MAPT | c.1087A>C (p.Ile363Leu) c.1000A>C (p.Ile334Leu) c.1174A>C (p.Ile392Leu) n.400A>C n.358A>C n.592A>C c.2350A>C (p.Ile784Leu) c.2059A>C (p.Ile687Leu) c.994A>C (p.Ile332Leu) c.1123A>C (p.Ile375Leu) c.2125A>C (p.Ile709Leu) c.907A>C (p.Ile303Leu) c.2179A>C (p.Ile727Leu) c.1081A>C (p.Ile361Leu) n.6366A>C c.2437A>C (p.Ile813Leu) c.2344A>C (p.Ile782Leu) c.2263A>C (p.Ile755Leu) c.2239A>C (p.Ile747Leu) c.2146A>C (p.Ile716Leu) c.1372A>C (p.Ile458Leu) c.1285A>C (p.Ile429Leu) c.1198A>C (p.Ile400Leu) c.772-1098A>C (n.772-1098A>C) n.1005A>C | |
17 | g.46024019A>G | CA291117944 | MAPT | c.1087A>G (p.Ile363Val) c.1000A>G (p.Ile334Val) c.1174A>G (p.Ile392Val) n.400A>G n.358A>G n.592A>G c.2350A>G (p.Ile784Val) c.2059A>G (p.Ile687Val) c.994A>G (p.Ile332Val) c.1123A>G (p.Ile375Val) c.2125A>G (p.Ile709Val) c.907A>G (p.Ile303Val) c.2179A>G (p.Ile727Val) c.1081A>G (p.Ile361Val) n.6366A>G c.2437A>G (p.Ile813Val) c.2344A>G (p.Ile782Val) c.2263A>G (p.Ile755Val) c.2239A>G (p.Ile747Val) c.2146A>G (p.Ile716Val) c.1372A>G (p.Ile458Val) c.1285A>G (p.Ile429Val) c.1198A>G (p.Ile400Val) c.772-1098A>G (n.772-1098A>G) n.1005A>G | ClinVar dbSNP gnomAD v4 |
17 | g.46024019A>T | CA399984398 | MAPT | c.1087A>T (p.Ile363Phe) c.1000A>T (p.Ile334Phe) c.1174A>T (p.Ile392Phe) n.400A>T n.358A>T n.592A>T c.2350A>T (p.Ile784Phe) c.2059A>T (p.Ile687Phe) c.994A>T (p.Ile332Phe) c.1123A>T (p.Ile375Phe) c.2125A>T (p.Ile709Phe) c.907A>T (p.Ile303Phe) c.2179A>T (p.Ile727Phe) c.1081A>T (p.Ile361Phe) n.6366A>T c.2437A>T (p.Ile813Phe) c.2344A>T (p.Ile782Phe) c.2263A>T (p.Ile755Phe) c.2239A>T (p.Ile747Phe) c.2146A>T (p.Ile716Phe) c.1372A>T (p.Ile458Phe) c.1285A>T (p.Ile429Phe) c.1198A>T (p.Ile400Phe) c.772-1098A>T (n.772-1098A>T) n.1005A>T | |
17 | g.46024020T>A | CA399984399 | MAPT | c.1088T>A (p.Ile363Asn) c.1001T>A (p.Ile334Asn) c.1175T>A (p.Ile392Asn) n.401T>A n.359T>A n.593T>A c.2351T>A (p.Ile784Asn) c.2060T>A (p.Ile687Asn) c.995T>A (p.Ile332Asn) c.1124T>A (p.Ile375Asn) c.2126T>A (p.Ile709Asn) c.908T>A (p.Ile303Asn) c.2180T>A (p.Ile727Asn) c.1082T>A (p.Ile361Asn) n.6367T>A c.2438T>A (p.Ile813Asn) c.2345T>A (p.Ile782Asn) c.2264T>A (p.Ile755Asn) c.2240T>A (p.Ile747Asn) c.2147T>A (p.Ile716Asn) c.1373T>A (p.Ile458Asn) c.1286T>A (p.Ile429Asn) c.1199T>A (p.Ile400Asn) c.772-1097T>A (n.772-1097T>A) n.1006T>A | |
17 | g.46024020T>C | CA399984401 | MAPT | c.1088T>C (p.Ile363Thr) c.1001T>C (p.Ile334Thr) c.1175T>C (p.Ile392Thr) n.401T>C n.359T>C n.593T>C c.2351T>C (p.Ile784Thr) c.2060T>C (p.Ile687Thr) c.995T>C (p.Ile332Thr) c.1124T>C (p.Ile375Thr) c.2126T>C (p.Ile709Thr) c.908T>C (p.Ile303Thr) c.2180T>C (p.Ile727Thr) c.1082T>C (p.Ile361Thr) n.6367T>C c.2438T>C (p.Ile813Thr) c.2345T>C (p.Ile782Thr) c.2264T>C (p.Ile755Thr) c.2240T>C (p.Ile747Thr) c.2147T>C (p.Ile716Thr) c.1373T>C (p.Ile458Thr) c.1286T>C (p.Ile429Thr) c.1199T>C (p.Ile400Thr) c.772-1097T>C (n.772-1097T>C) n.1006T>C | |
17 | g.46024020T>G | CA399984400 | MAPT | c.1088T>G (p.Ile363Ser) c.1001T>G (p.Ile334Ser) c.1175T>G (p.Ile392Ser) n.401T>G n.359T>G n.593T>G c.2351T>G (p.Ile784Ser) c.2060T>G (p.Ile687Ser) c.995T>G (p.Ile332Ser) c.1124T>G (p.Ile375Ser) c.2126T>G (p.Ile709Ser) c.908T>G (p.Ile303Ser) c.2180T>G (p.Ile727Ser) c.1082T>G (p.Ile361Ser) n.6367T>G c.2438T>G (p.Ile813Ser) c.2345T>G (p.Ile782Ser) c.2264T>G (p.Ile755Ser) c.2240T>G (p.Ile747Ser) c.2147T>G (p.Ile716Ser) c.1373T>G (p.Ile458Ser) c.1286T>G (p.Ile429Ser) c.1199T>G (p.Ile400Ser) c.772-1097T>G (n.772-1097T>G) n.1006T>G | |
17 | g.46024021C>A | CA500371434 | MAPT | c.1089C>A (p.Ile363=) c.1002C>A (p.Ile334=) c.1176C>A (p.Ile392=) n.402C>A n.360C>A n.594C>A c.2352C>A (p.Ile784=) c.2061C>A (p.Ile687=) c.996C>A (p.Ile332=) c.1125C>A (p.Ile375=) c.2127C>A (p.Ile709=) c.909C>A (p.Ile303=) c.2181C>A (p.Ile727=) c.1083C>A (p.Ile361=) n.6368C>A c.2439C>A (p.Ile813=) c.2346C>A (p.Ile782=) c.2265C>A (p.Ile755=) c.2241C>A (p.Ile747=) c.2148C>A (p.Ile716=) c.1374C>A (p.Ile458=) c.1287C>A (p.Ile429=) c.1200C>A (p.Ile400=) c.772-1096C>A (n.772-1096C>A) n.1007C>A | |
17 | g.46024021C= | CA2262106922 | MAPT | c.1089C= (p.Ile363=) c.1002C= (p.Ile334=) c.1176C= (p.Ile392=) n.402C= n.360C= n.594C= c.2352C= (p.Ile784=) c.2061C= (p.Ile687=) c.996C= (p.Ile332=) c.1125C= (p.Ile375=) c.2127C= (p.Ile709=) c.909C= (p.Ile303=) c.2181C= (p.Ile727=) c.1083C= (p.Ile361=) n.6368C= c.2439C= (p.Ile813=) c.2346C= (p.Ile782=) c.2265C= (p.Ile755=) c.2241C= (p.Ile747=) c.2148C= (p.Ile716=) c.1374C= (p.Ile458=) c.1287C= (p.Ile429=) c.1200C= (p.Ile400=) c.772-1096C= (n.772-1096C=) n.1007C= | |
17 | g.46024021C>G | CA399984402 | MAPT | c.1089C>G (p.Ile363Met) c.1002C>G (p.Ile334Met) c.1176C>G (p.Ile392Met) n.402C>G n.360C>G n.594C>G c.2352C>G (p.Ile784Met) c.2061C>G (p.Ile687Met) c.996C>G (p.Ile332Met) c.1125C>G (p.Ile375Met) c.2127C>G (p.Ile709Met) c.909C>G (p.Ile303Met) c.2181C>G (p.Ile727Met) c.1083C>G (p.Ile361Met) n.6368C>G c.2439C>G (p.Ile813Met) c.2346C>G (p.Ile782Met) c.2265C>G (p.Ile755Met) c.2241C>G (p.Ile747Met) c.2148C>G (p.Ile716Met) c.1374C>G (p.Ile458Met) c.1287C>G (p.Ile429Met) c.1200C>G (p.Ile400Met) c.772-1096C>G (n.772-1096C>G) n.1007C>G | |
17 | g.46024021C>T | CA291117949 | MAPT | c.1089C>T (p.Ile363=) c.1002C>T (p.Ile334=) c.1176C>T (p.Ile392=) n.402C>T n.360C>T n.594C>T c.2352C>T (p.Ile784=) c.2061C>T (p.Ile687=) c.996C>T (p.Ile332=) c.1125C>T (p.Ile375=) c.2127C>T (p.Ile709=) c.909C>T (p.Ile303=) c.2181C>T (p.Ile727=) c.1083C>T (p.Ile361=) n.6368C>T c.2439C>T (p.Ile813=) c.2346C>T (p.Ile782=) c.2265C>T (p.Ile755=) c.2241C>T (p.Ile747=) c.2148C>T (p.Ile716=) c.1374C>T (p.Ile458=) c.1287C>T (p.Ile429=) c.1200C>T (p.Ile400=) c.772-1096C>T (n.772-1096C>T) n.1007C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46024022G>A | CA291117964 | MAPT | c.1090G>A (p.Val364Met) c.1003G>A (p.Val335Met) c.1177G>A (p.Val393Met) n.403G>A n.361G>A n.595G>A c.2353G>A (p.Val785Met) c.2062G>A (p.Val688Met) c.997G>A (p.Val333Met) c.1126G>A (p.Val376Met) c.2128G>A (p.Val710Met) c.910G>A (p.Val304Met) c.2182G>A (p.Val728Met) c.1084G>A (p.Val362Met) n.6369G>A c.2440G>A (p.Val814Met) c.2347G>A (p.Val783Met) c.2266G>A (p.Val756Met) c.2242G>A (p.Val748Met) c.2149G>A (p.Val717Met) c.1375G>A (p.Val459Met) c.1288G>A (p.Val430Met) c.1201G>A (p.Val401Met) c.772-1095G>A (n.772-1095G>A) n.1008G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.46024022G>C | CA399984403 | MAPT | c.1090G>C (p.Val364Leu) c.1003G>C (p.Val335Leu) c.1177G>C (p.Val393Leu) n.403G>C n.361G>C n.595G>C c.2353G>C (p.Val785Leu) c.2062G>C (p.Val688Leu) c.997G>C (p.Val333Leu) c.1126G>C (p.Val376Leu) c.2128G>C (p.Val710Leu) c.910G>C (p.Val304Leu) c.2182G>C (p.Val728Leu) c.1084G>C (p.Val362Leu) n.6369G>C c.2440G>C (p.Val814Leu) c.2347G>C (p.Val783Leu) c.2266G>C (p.Val756Leu) c.2242G>C (p.Val748Leu) c.2149G>C (p.Val717Leu) c.1375G>C (p.Val459Leu) c.1288G>C (p.Val430Leu) c.1201G>C (p.Val401Leu) c.772-1095G>C (n.772-1095G>C) n.1008G>C | |
17 | g.46024022G= | CA2262106923 | MAPT | c.1090G= (p.Val364=) c.1003G= (p.Val335=) c.1177G= (p.Val393=) n.403G= n.361G= n.595G= c.2353G= (p.Val785=) c.2062G= (p.Val688=) c.997G= (p.Val333=) c.1126G= (p.Val376=) c.2128G= (p.Val710=) c.910G= (p.Val304=) c.2182G= (p.Val728=) c.1084G= (p.Val362=) n.6369G= c.2440G= (p.Val814=) c.2347G= (p.Val783=) c.2266G= (p.Val756=) c.2242G= (p.Val748=) c.2149G= (p.Val717=) c.1375G= (p.Val459=) c.1288G= (p.Val430=) c.1201G= (p.Val401=) c.772-1095G= (n.772-1095G=) n.1008G= | |
17 | g.46024022G>T | CA399984404 | MAPT | c.1090G>T (p.Val364Leu) c.1003G>T (p.Val335Leu) c.1177G>T (p.Val393Leu) n.403G>T n.361G>T n.595G>T c.2353G>T (p.Val785Leu) c.2062G>T (p.Val688Leu) c.997G>T (p.Val333Leu) c.1126G>T (p.Val376Leu) c.2128G>T (p.Val710Leu) c.910G>T (p.Val304Leu) c.2182G>T (p.Val728Leu) c.1084G>T (p.Val362Leu) n.6369G>T c.2440G>T (p.Val814Leu) c.2347G>T (p.Val783Leu) c.2266G>T (p.Val756Leu) c.2242G>T (p.Val748Leu) c.2149G>T (p.Val717Leu) c.1375G>T (p.Val459Leu) c.1288G>T (p.Val430Leu) c.1201G>T (p.Val401Leu) c.772-1095G>T (n.772-1095G>T) n.1008G>T | |
17 | g.46024023T>A | CA399984405 | MAPT | c.1091T>A (p.Val364Glu) c.1004T>A (p.Val335Glu) c.1178T>A (p.Val393Glu) n.404T>A n.362T>A n.596T>A c.2354T>A (p.Val785Glu) c.2063T>A (p.Val688Glu) c.998T>A (p.Val333Glu) c.1127T>A (p.Val376Glu) c.2129T>A (p.Val710Glu) c.911T>A (p.Val304Glu) c.2183T>A (p.Val728Glu) c.1085T>A (p.Val362Glu) n.6370T>A c.2441T>A (p.Val814Glu) c.2348T>A (p.Val783Glu) c.2267T>A (p.Val756Glu) c.2243T>A (p.Val748Glu) c.2150T>A (p.Val717Glu) c.1376T>A (p.Val459Glu) c.1289T>A (p.Val430Glu) c.1202T>A (p.Val401Glu) c.772-1094T>A (n.772-1094T>A) n.1009T>A | |
17 | g.46024023T>C | CA399984406 | MAPT | c.1091T>C (p.Val364Ala) c.1004T>C (p.Val335Ala) c.1178T>C (p.Val393Ala) n.404T>C n.362T>C n.596T>C c.2354T>C (p.Val785Ala) c.2063T>C (p.Val688Ala) c.998T>C (p.Val333Ala) c.1127T>C (p.Val376Ala) c.2129T>C (p.Val710Ala) c.911T>C (p.Val304Ala) c.2183T>C (p.Val728Ala) c.1085T>C (p.Val362Ala) n.6370T>C c.2441T>C (p.Val814Ala) c.2348T>C (p.Val783Ala) c.2267T>C (p.Val756Ala) c.2243T>C (p.Val748Ala) c.2150T>C (p.Val717Ala) c.1376T>C (p.Val459Ala) c.1289T>C (p.Val430Ala) c.1202T>C (p.Val401Ala) c.772-1094T>C (n.772-1094T>C) n.1009T>C | COSMIC |
17 | g.46024023T>G | CA399984407 | MAPT | c.1091T>G (p.Val364Gly) c.1004T>G (p.Val335Gly) c.1178T>G (p.Val393Gly) n.404T>G n.362T>G n.596T>G c.2354T>G (p.Val785Gly) c.2063T>G (p.Val688Gly) c.998T>G (p.Val333Gly) c.1127T>G (p.Val376Gly) c.2129T>G (p.Val710Gly) c.911T>G (p.Val304Gly) c.2183T>G (p.Val728Gly) c.1085T>G (p.Val362Gly) n.6370T>G c.2441T>G (p.Val814Gly) c.2348T>G (p.Val783Gly) c.2267T>G (p.Val756Gly) c.2243T>G (p.Val748Gly) c.2150T>G (p.Val717Gly) c.1376T>G (p.Val459Gly) c.1289T>G (p.Val430Gly) c.1202T>G (p.Val401Gly) c.772-1094T>G (n.772-1094T>G) n.1009T>G | |
17 | g.46024024G>A | CA500371437 | MAPT | c.1092G>A (p.Val364=) c.1005G>A (p.Val335=) c.1179G>A (p.Val393=) n.405G>A n.363G>A n.597G>A c.2355G>A (p.Val785=) c.2064G>A (p.Val688=) c.999G>A (p.Val333=) c.1128G>A (p.Val376=) c.2130G>A (p.Val710=) c.912G>A (p.Val304=) c.2184G>A (p.Val728=) c.1086G>A (p.Val362=) n.6371G>A c.2442G>A (p.Val814=) c.2349G>A (p.Val783=) c.2268G>A (p.Val756=) c.2244G>A (p.Val748=) c.2151G>A (p.Val717=) c.1377G>A (p.Val459=) c.1290G>A (p.Val430=) c.1203G>A (p.Val401=) c.772-1093G>A (n.772-1093G>A) n.1010G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46024024G>C | CA500371435 | MAPT | c.1092G>C (p.Val364=) c.1005G>C (p.Val335=) c.1179G>C (p.Val393=) n.405G>C n.363G>C n.597G>C c.2355G>C (p.Val785=) c.2064G>C (p.Val688=) c.999G>C (p.Val333=) c.1128G>C (p.Val376=) c.2130G>C (p.Val710=) c.912G>C (p.Val304=) c.2184G>C (p.Val728=) c.1086G>C (p.Val362=) n.6371G>C c.2442G>C (p.Val814=) c.2349G>C (p.Val783=) c.2268G>C (p.Val756=) c.2244G>C (p.Val748=) c.2151G>C (p.Val717=) c.1377G>C (p.Val459=) c.1290G>C (p.Val430=) c.1203G>C (p.Val401=) c.772-1093G>C (n.772-1093G>C) n.1010G>C | |
17 | g.46024024G= | CA2262106924 | MAPT | c.1092G= (p.Val364=) c.1005G= (p.Val335=) c.1179G= (p.Val393=) n.405G= n.363G= n.597G= c.2355G= (p.Val785=) c.2064G= (p.Val688=) c.999G= (p.Val333=) c.1128G= (p.Val376=) c.2130G= (p.Val710=) c.912G= (p.Val304=) c.2184G= (p.Val728=) c.1086G= (p.Val362=) n.6371G= c.2442G= (p.Val814=) c.2349G= (p.Val783=) c.2268G= (p.Val756=) c.2244G= (p.Val748=) c.2151G= (p.Val717=) c.1377G= (p.Val459=) c.1290G= (p.Val430=) c.1203G= (p.Val401=) c.772-1093G= (n.772-1093G=) n.1010G= | |
17 | g.46024024G>T | CA500371436 | MAPT | c.1092G>T (p.Val364=) c.1005G>T (p.Val335=) c.1179G>T (p.Val393=) n.405G>T n.363G>T n.597G>T c.2355G>T (p.Val785=) c.2064G>T (p.Val688=) c.999G>T (p.Val333=) c.1128G>T (p.Val376=) c.2130G>T (p.Val710=) c.912G>T (p.Val304=) c.2184G>T (p.Val728=) c.1086G>T (p.Val362=) n.6371G>T c.2442G>T (p.Val814=) c.2349G>T (p.Val783=) c.2268G>T (p.Val756=) c.2244G>T (p.Val748=) c.2151G>T (p.Val717=) c.1377G>T (p.Val459=) c.1290G>T (p.Val430=) c.1203G>T (p.Val401=) c.772-1093G>T (n.772-1093G>T) n.1010G>T | |
17 | g.46024025T>A | CA399984408 | MAPT | c.1093T>A (p.Tyr365Asn) c.1006T>A (p.Tyr336Asn) c.1180T>A (p.Tyr394Asn) n.406T>A n.364T>A n.598T>A c.2356T>A (p.Tyr786Asn) c.2065T>A (p.Tyr689Asn) c.1000T>A (p.Tyr334Asn) c.1129T>A (p.Tyr377Asn) c.2131T>A (p.Tyr711Asn) c.913T>A (p.Tyr305Asn) c.2185T>A (p.Tyr729Asn) c.1087T>A (p.Tyr363Asn) n.6372T>A c.2443T>A (p.Tyr815Asn) c.2350T>A (p.Tyr784Asn) c.2269T>A (p.Tyr757Asn) c.2245T>A (p.Tyr749Asn) c.2152T>A (p.Tyr718Asn) c.1378T>A (p.Tyr460Asn) c.1291T>A (p.Tyr431Asn) c.1204T>A (p.Tyr402Asn) c.772-1092T>A (n.772-1092T>A) n.1011T>A | |
17 | g.46024025T>C | CA399984409 | MAPT | c.1093T>C (p.Tyr365His) c.1006T>C (p.Tyr336His) c.1180T>C (p.Tyr394His) n.406T>C n.364T>C n.598T>C c.2356T>C (p.Tyr786His) c.2065T>C (p.Tyr689His) c.1000T>C (p.Tyr334His) c.1129T>C (p.Tyr377His) c.2131T>C (p.Tyr711His) c.913T>C (p.Tyr305His) c.2185T>C (p.Tyr729His) c.1087T>C (p.Tyr363His) n.6372T>C c.2443T>C (p.Tyr815His) c.2350T>C (p.Tyr784His) c.2269T>C (p.Tyr757His) c.2245T>C (p.Tyr749His) c.2152T>C (p.Tyr718His) c.1378T>C (p.Tyr460His) c.1291T>C (p.Tyr431His) c.1204T>C (p.Tyr402His) c.772-1092T>C (n.772-1092T>C) n.1011T>C | |
17 | g.46024025T>G | CA399984410 | MAPT | c.1093T>G (p.Tyr365Asp) c.1006T>G (p.Tyr336Asp) c.1180T>G (p.Tyr394Asp) n.406T>G n.364T>G n.598T>G c.2356T>G (p.Tyr786Asp) c.2065T>G (p.Tyr689Asp) c.1000T>G (p.Tyr334Asp) c.1129T>G (p.Tyr377Asp) c.2131T>G (p.Tyr711Asp) c.913T>G (p.Tyr305Asp) c.2185T>G (p.Tyr729Asp) c.1087T>G (p.Tyr363Asp) n.6372T>G c.2443T>G (p.Tyr815Asp) c.2350T>G (p.Tyr784Asp) c.2269T>G (p.Tyr757Asp) c.2245T>G (p.Tyr749Asp) c.2152T>G (p.Tyr718Asp) c.1378T>G (p.Tyr460Asp) c.1291T>G (p.Tyr431Asp) c.1204T>G (p.Tyr402Asp) c.772-1092T>G (n.772-1092T>G) n.1011T>G | |
17 | g.46024026A>C | CA399984412 | MAPT | c.1094A>C (p.Tyr365Ser) c.1007A>C (p.Tyr336Ser) c.1181A>C (p.Tyr394Ser) n.407A>C n.365A>C n.599A>C c.2357A>C (p.Tyr786Ser) c.2066A>C (p.Tyr689Ser) c.1001A>C (p.Tyr334Ser) c.1130A>C (p.Tyr377Ser) c.2132A>C (p.Tyr711Ser) c.914A>C (p.Tyr305Ser) c.2186A>C (p.Tyr729Ser) c.1088A>C (p.Tyr363Ser) n.6373A>C c.2444A>C (p.Tyr815Ser) c.2351A>C (p.Tyr784Ser) c.2270A>C (p.Tyr757Ser) c.2246A>C (p.Tyr749Ser) c.2153A>C (p.Tyr718Ser) c.1379A>C (p.Tyr460Ser) c.1292A>C (p.Tyr431Ser) c.1205A>C (p.Tyr402Ser) c.772-1091A>C (n.772-1091A>C) n.1012A>C | |
17 | g.46024026A>G | CA399984413 | MAPT | c.1094A>G (p.Tyr365Cys) c.1007A>G (p.Tyr336Cys) c.1181A>G (p.Tyr394Cys) n.407A>G n.365A>G n.599A>G c.2357A>G (p.Tyr786Cys) c.2066A>G (p.Tyr689Cys) c.1001A>G (p.Tyr334Cys) c.1130A>G (p.Tyr377Cys) c.2132A>G (p.Tyr711Cys) c.914A>G (p.Tyr305Cys) c.2186A>G (p.Tyr729Cys) c.1088A>G (p.Tyr363Cys) n.6373A>G c.2444A>G (p.Tyr815Cys) c.2351A>G (p.Tyr784Cys) c.2270A>G (p.Tyr757Cys) c.2246A>G (p.Tyr749Cys) c.2153A>G (p.Tyr718Cys) c.1379A>G (p.Tyr460Cys) c.1292A>G (p.Tyr431Cys) c.1205A>G (p.Tyr402Cys) c.772-1091A>G (n.772-1091A>G) n.1012A>G | |
17 | g.46024026A>T | CA399984411 | MAPT | c.1094A>T (p.Tyr365Phe) c.1007A>T (p.Tyr336Phe) c.1181A>T (p.Tyr394Phe) n.407A>T n.365A>T n.599A>T c.2357A>T (p.Tyr786Phe) c.2066A>T (p.Tyr689Phe) c.1001A>T (p.Tyr334Phe) c.1130A>T (p.Tyr377Phe) c.2132A>T (p.Tyr711Phe) c.914A>T (p.Tyr305Phe) c.2186A>T (p.Tyr729Phe) c.1088A>T (p.Tyr363Phe) n.6373A>T c.2444A>T (p.Tyr815Phe) c.2351A>T (p.Tyr784Phe) c.2270A>T (p.Tyr757Phe) c.2246A>T (p.Tyr749Phe) c.2153A>T (p.Tyr718Phe) c.1379A>T (p.Tyr460Phe) c.1292A>T (p.Tyr431Phe) c.1205A>T (p.Tyr402Phe) c.772-1091A>T (n.772-1091A>T) n.1012A>T | |
17 | g.46024027C>A | CA399984415 | MAPT | c.1095C>A (p.Tyr365Ter) c.1008C>A (p.Tyr336Ter) c.1182C>A (p.Tyr394Ter) n.408C>A n.366C>A n.600C>A c.2358C>A (p.Tyr786Ter) c.2067C>A (p.Tyr689Ter) c.1002C>A (p.Tyr334Ter) c.1131C>A (p.Tyr377Ter) c.2133C>A (p.Tyr711Ter) c.915C>A (p.Tyr305Ter) c.2187C>A (p.Tyr729Ter) c.1089C>A (p.Tyr363Ter) n.6374C>A c.2445C>A (p.Tyr815Ter) c.2352C>A (p.Tyr784Ter) c.2271C>A (p.Tyr757Ter) c.2247C>A (p.Tyr749Ter) c.2154C>A (p.Tyr718Ter) c.1380C>A (p.Tyr460Ter) c.1293C>A (p.Tyr431Ter) c.1206C>A (p.Tyr402Ter) c.772-1090C>A (n.772-1090C>A) n.1013C>A | |
17 | g.46024027C= | CA2262106925 | MAPT | c.1095C= (p.Tyr365=) c.1008C= (p.Tyr336=) c.1182C= (p.Tyr394=) n.408C= n.366C= n.600C= c.2358C= (p.Tyr786=) c.2067C= (p.Tyr689=) c.1002C= (p.Tyr334=) c.1131C= (p.Tyr377=) c.2133C= (p.Tyr711=) c.915C= (p.Tyr305=) c.2187C= (p.Tyr729=) c.1089C= (p.Tyr363=) n.6374C= c.2445C= (p.Tyr815=) c.2352C= (p.Tyr784=) c.2271C= (p.Tyr757=) c.2247C= (p.Tyr749=) c.2154C= (p.Tyr718=) c.1380C= (p.Tyr460=) c.1293C= (p.Tyr431=) c.1206C= (p.Tyr402=) c.772-1090C= (n.772-1090C=) n.1013C= | |
17 | g.46024027C>G | CA399984414 | MAPT | c.1095C>G (p.Tyr365Ter) c.1008C>G (p.Tyr336Ter) c.1182C>G (p.Tyr394Ter) n.408C>G n.366C>G n.600C>G c.2358C>G (p.Tyr786Ter) c.2067C>G (p.Tyr689Ter) c.1002C>G (p.Tyr334Ter) c.1131C>G (p.Tyr377Ter) c.2133C>G (p.Tyr711Ter) c.915C>G (p.Tyr305Ter) c.2187C>G (p.Tyr729Ter) c.1089C>G (p.Tyr363Ter) n.6374C>G c.2445C>G (p.Tyr815Ter) c.2352C>G (p.Tyr784Ter) c.2271C>G (p.Tyr757Ter) c.2247C>G (p.Tyr749Ter) c.2154C>G (p.Tyr718Ter) c.1380C>G (p.Tyr460Ter) c.1293C>G (p.Tyr431Ter) c.1206C>G (p.Tyr402Ter) c.772-1090C>G (n.772-1090C>G) n.1013C>G | |
17 | g.46024027C>T | CA8618257 | MAPT | c.1095C>T (p.Tyr365=) c.1008C>T (p.Tyr336=) c.1182C>T (p.Tyr394=) n.408C>T n.366C>T n.600C>T c.2358C>T (p.Tyr786=) c.2067C>T (p.Tyr689=) c.1002C>T (p.Tyr334=) c.1131C>T (p.Tyr377=) c.2133C>T (p.Tyr711=) c.915C>T (p.Tyr305=) c.2187C>T (p.Tyr729=) c.1089C>T (p.Tyr363=) n.6374C>T c.2445C>T (p.Tyr815=) c.2352C>T (p.Tyr784=) c.2271C>T (p.Tyr757=) c.2247C>T (p.Tyr749=) c.2154C>T (p.Tyr718=) c.1380C>T (p.Tyr460=) c.1293C>T (p.Tyr431=) c.1206C>T (p.Tyr402=) c.772-1090C>T (n.772-1090C>T) n.1013C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46024028A>C | CA399984416 | MAPT | c.1096A>C (p.Lys366Gln) c.1009A>C (p.Lys337Gln) c.1183A>C (p.Lys395Gln) n.409A>C n.367A>C n.601A>C c.2359A>C (p.Lys787Gln) c.2068A>C (p.Lys690Gln) c.1003A>C (p.Lys335Gln) c.1132A>C (p.Lys378Gln) c.2134A>C (p.Lys712Gln) c.916A>C (p.Lys306Gln) c.2188A>C (p.Lys730Gln) c.1090A>C (p.Lys364Gln) n.6375A>C c.2446A>C (p.Lys816Gln) c.2353A>C (p.Lys785Gln) c.2272A>C (p.Lys758Gln) c.2248A>C (p.Lys750Gln) c.2155A>C (p.Lys719Gln) c.1381A>C (p.Lys461Gln) c.1294A>C (p.Lys432Gln) c.1207A>C (p.Lys403Gln) c.772-1089A>C (n.772-1089A>C) n.1014A>C | |
17 | g.46024028A>G | CA399984417 | MAPT | c.1096A>G (p.Lys366Glu) c.1009A>G (p.Lys337Glu) c.1183A>G (p.Lys395Glu) n.409A>G n.367A>G n.601A>G c.2359A>G (p.Lys787Glu) c.2068A>G (p.Lys690Glu) c.1003A>G (p.Lys335Glu) c.1132A>G (p.Lys378Glu) c.2134A>G (p.Lys712Glu) c.916A>G (p.Lys306Glu) c.2188A>G (p.Lys730Glu) c.1090A>G (p.Lys364Glu) n.6375A>G c.2446A>G (p.Lys816Glu) c.2353A>G (p.Lys785Glu) c.2272A>G (p.Lys758Glu) c.2248A>G (p.Lys750Glu) c.2155A>G (p.Lys719Glu) c.1381A>G (p.Lys461Glu) c.1294A>G (p.Lys432Glu) c.1207A>G (p.Lys403Glu) c.772-1089A>G (n.772-1089A>G) n.1014A>G | |
17 | g.46024028A>T | CA399984418 | MAPT | c.1096A>T (p.Lys366Ter) c.1009A>T (p.Lys337Ter) c.1183A>T (p.Lys395Ter) n.409A>T n.367A>T n.601A>T c.2359A>T (p.Lys787Ter) c.2068A>T (p.Lys690Ter) c.1003A>T (p.Lys335Ter) c.1132A>T (p.Lys378Ter) c.2134A>T (p.Lys712Ter) c.916A>T (p.Lys306Ter) c.2188A>T (p.Lys730Ter) c.1090A>T (p.Lys364Ter) n.6375A>T c.2446A>T (p.Lys816Ter) c.2353A>T (p.Lys785Ter) c.2272A>T (p.Lys758Ter) c.2248A>T (p.Lys750Ter) c.2155A>T (p.Lys719Ter) c.1381A>T (p.Lys461Ter) c.1294A>T (p.Lys432Ter) c.1207A>T (p.Lys403Ter) c.772-1089A>T (n.772-1089A>T) n.1014A>T | |
17 | g.46024029A>C | CA399984419 | MAPT | c.1097A>C (p.Lys366Thr) c.1010A>C (p.Lys337Thr) c.1184A>C (p.Lys395Thr) n.410A>C n.368A>C n.602A>C c.2360A>C (p.Lys787Thr) c.2069A>C (p.Lys690Thr) c.1004A>C (p.Lys335Thr) c.1133A>C (p.Lys378Thr) c.2135A>C (p.Lys712Thr) c.917A>C (p.Lys306Thr) c.2189A>C (p.Lys730Thr) c.1091A>C (p.Lys364Thr) n.6376A>C c.2447A>C (p.Lys816Thr) c.2354A>C (p.Lys785Thr) c.2273A>C (p.Lys758Thr) c.2249A>C (p.Lys750Thr) c.2156A>C (p.Lys719Thr) c.1382A>C (p.Lys461Thr) c.1295A>C (p.Lys432Thr) c.1208A>C (p.Lys403Thr) c.772-1088A>C (n.772-1088A>C) n.1015A>C | |
17 | g.46024029A>G | CA399984420 | MAPT | c.1097A>G (p.Lys366Arg) c.1010A>G (p.Lys337Arg) c.1184A>G (p.Lys395Arg) n.410A>G n.368A>G n.602A>G c.2360A>G (p.Lys787Arg) c.2069A>G (p.Lys690Arg) c.1004A>G (p.Lys335Arg) c.1133A>G (p.Lys378Arg) c.2135A>G (p.Lys712Arg) c.917A>G (p.Lys306Arg) c.2189A>G (p.Lys730Arg) c.1091A>G (p.Lys364Arg) n.6376A>G c.2447A>G (p.Lys816Arg) c.2354A>G (p.Lys785Arg) c.2273A>G (p.Lys758Arg) c.2249A>G (p.Lys750Arg) c.2156A>G (p.Lys719Arg) c.1382A>G (p.Lys461Arg) c.1295A>G (p.Lys432Arg) c.1208A>G (p.Lys403Arg) c.772-1088A>G (n.772-1088A>G) n.1015A>G | |
17 | g.46024029A>T | CA399984421 | MAPT | c.1097A>T (p.Lys366Met) c.1010A>T (p.Lys337Met) c.1184A>T (p.Lys395Met) n.410A>T n.368A>T n.602A>T c.2360A>T (p.Lys787Met) c.2069A>T (p.Lys690Met) c.1004A>T (p.Lys335Met) c.1133A>T (p.Lys378Met) c.2135A>T (p.Lys712Met) c.917A>T (p.Lys306Met) c.2189A>T (p.Lys730Met) c.1091A>T (p.Lys364Met) n.6376A>T c.2447A>T (p.Lys816Met) c.2354A>T (p.Lys785Met) c.2273A>T (p.Lys758Met) c.2249A>T (p.Lys750Met) c.2156A>T (p.Lys719Met) c.1382A>T (p.Lys461Met) c.1295A>T (p.Lys432Met) c.1208A>T (p.Lys403Met) c.772-1088A>T (n.772-1088A>T) n.1015A>T | |
17 | g.46024030G>A | CA500371449 | MAPT | c.1098G>A (p.Lys366=) c.1011G>A (p.Lys337=) c.1185G>A (p.Lys395=) n.411G>A n.369G>A n.603G>A c.2361G>A (p.Lys787=) c.2070G>A (p.Lys690=) c.1005G>A (p.Lys335=) c.1134G>A (p.Lys378=) c.2136G>A (p.Lys712=) c.918G>A (p.Lys306=) c.2190G>A (p.Lys730=) c.1092G>A (p.Lys364=) n.6377G>A c.2448G>A (p.Lys816=) c.2355G>A (p.Lys785=) c.2274G>A (p.Lys758=) c.2250G>A (p.Lys750=) c.2157G>A (p.Lys719=) c.1383G>A (p.Lys461=) c.1296G>A (p.Lys432=) c.1209G>A (p.Lys403=) c.772-1087G>A (n.772-1087G>A) n.1016G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46024030G>C | CA399984422 | MAPT | c.1098G>C (p.Lys366Asn) c.1011G>C (p.Lys337Asn) c.1185G>C (p.Lys395Asn) n.411G>C n.369G>C n.603G>C c.2361G>C (p.Lys787Asn) c.2070G>C (p.Lys690Asn) c.1005G>C (p.Lys335Asn) c.1134G>C (p.Lys378Asn) c.2136G>C (p.Lys712Asn) c.918G>C (p.Lys306Asn) c.2190G>C (p.Lys730Asn) c.1092G>C (p.Lys364Asn) n.6377G>C c.2448G>C (p.Lys816Asn) c.2355G>C (p.Lys785Asn) c.2274G>C (p.Lys758Asn) c.2250G>C (p.Lys750Asn) c.2157G>C (p.Lys719Asn) c.1383G>C (p.Lys461Asn) c.1296G>C (p.Lys432Asn) c.1209G>C (p.Lys403Asn) c.772-1087G>C (n.772-1087G>C) n.1016G>C | |
17 | g.46024030G= | CA2262106926 | MAPT | c.1098G= (p.Lys366=) c.1011G= (p.Lys337=) c.1185G= (p.Lys395=) n.411G= n.369G= n.603G= c.2361G= (p.Lys787=) c.2070G= (p.Lys690=) c.1005G= (p.Lys335=) c.1134G= (p.Lys378=) c.2136G= (p.Lys712=) c.918G= (p.Lys306=) c.2190G= (p.Lys730=) c.1092G= (p.Lys364=) n.6377G= c.2448G= (p.Lys816=) c.2355G= (p.Lys785=) c.2274G= (p.Lys758=) c.2250G= (p.Lys750=) c.2157G= (p.Lys719=) c.1383G= (p.Lys461=) c.1296G= (p.Lys432=) c.1209G= (p.Lys403=) c.772-1087G= (n.772-1087G=) n.1016G= | |
17 | g.46024030G>T | CA399984423 | MAPT | c.1098G>T (p.Lys366Asn) c.1011G>T (p.Lys337Asn) c.1185G>T (p.Lys395Asn) n.411G>T n.369G>T n.603G>T c.2361G>T (p.Lys787Asn) c.2070G>T (p.Lys690Asn) c.1005G>T (p.Lys335Asn) c.1134G>T (p.Lys378Asn) c.2136G>T (p.Lys712Asn) c.918G>T (p.Lys306Asn) c.2190G>T (p.Lys730Asn) c.1092G>T (p.Lys364Asn) n.6377G>T c.2448G>T (p.Lys816Asn) c.2355G>T (p.Lys785Asn) c.2274G>T (p.Lys758Asn) c.2250G>T (p.Lys750Asn) c.2157G>T (p.Lys719Asn) c.1383G>T (p.Lys461Asn) c.1296G>T (p.Lys432Asn) c.1209G>T (p.Lys403Asn) c.772-1087G>T (n.772-1087G>T) n.1016G>T | |
17 | g.46024031T>A | CA399984424 | MAPT | c.1099T>A (p.Ser367Thr) c.1012T>A (p.Ser338Thr) c.1186T>A (p.Ser396Thr) n.412T>A n.370T>A n.604T>A c.2362T>A (p.Ser788Thr) c.2071T>A (p.Ser691Thr) c.1006T>A (p.Ser336Thr) c.1135T>A (p.Ser379Thr) c.2137T>A (p.Ser713Thr) c.919T>A (p.Ser307Thr) c.2191T>A (p.Ser731Thr) c.1093T>A (p.Ser365Thr) n.6378T>A c.2449T>A (p.Ser817Thr) c.2356T>A (p.Ser786Thr) c.2275T>A (p.Ser759Thr) c.2251T>A (p.Ser751Thr) c.2158T>A (p.Ser720Thr) c.1384T>A (p.Ser462Thr) c.1297T>A (p.Ser433Thr) c.1210T>A (p.Ser404Thr) c.772-1086T>A (n.772-1086T>A) n.1017T>A | |
17 | g.46024031T>C | CA399984425 | MAPT | c.1099T>C (p.Ser367Pro) c.1012T>C (p.Ser338Pro) c.1186T>C (p.Ser396Pro) n.412T>C n.370T>C n.604T>C c.2362T>C (p.Ser788Pro) c.2071T>C (p.Ser691Pro) c.1006T>C (p.Ser336Pro) c.1135T>C (p.Ser379Pro) c.2137T>C (p.Ser713Pro) c.919T>C (p.Ser307Pro) c.2191T>C (p.Ser731Pro) c.1093T>C (p.Ser365Pro) n.6378T>C c.2449T>C (p.Ser817Pro) c.2356T>C (p.Ser786Pro) c.2275T>C (p.Ser759Pro) c.2251T>C (p.Ser751Pro) c.2158T>C (p.Ser720Pro) c.1384T>C (p.Ser462Pro) c.1297T>C (p.Ser433Pro) c.1210T>C (p.Ser404Pro) c.772-1086T>C (n.772-1086T>C) n.1017T>C | |
17 | g.46024031T>G | CA399984426 | MAPT | c.1099T>G (p.Ser367Ala) c.1012T>G (p.Ser338Ala) c.1186T>G (p.Ser396Ala) n.412T>G n.370T>G n.604T>G c.2362T>G (p.Ser788Ala) c.2071T>G (p.Ser691Ala) c.1006T>G (p.Ser336Ala) c.1135T>G (p.Ser379Ala) c.2137T>G (p.Ser713Ala) c.919T>G (p.Ser307Ala) c.2191T>G (p.Ser731Ala) c.1093T>G (p.Ser365Ala) n.6378T>G c.2449T>G (p.Ser817Ala) c.2356T>G (p.Ser786Ala) c.2275T>G (p.Ser759Ala) c.2251T>G (p.Ser751Ala) c.2158T>G (p.Ser720Ala) c.1384T>G (p.Ser462Ala) c.1297T>G (p.Ser433Ala) c.1210T>G (p.Ser404Ala) c.772-1086T>G (n.772-1086T>G) n.1017T>G | |
17 | g.46024032C>A | CA399984429 | MAPT | c.1100C>A (p.Ser367Ter) c.1013C>A (p.Ser338Ter) c.1187C>A (p.Ser396Ter) n.413C>A n.371C>A n.605C>A c.2363C>A (p.Ser788Ter) c.2072C>A (p.Ser691Ter) c.1007C>A (p.Ser336Ter) c.1136C>A (p.Ser379Ter) c.2138C>A (p.Ser713Ter) c.920C>A (p.Ser307Ter) c.2192C>A (p.Ser731Ter) c.1094C>A (p.Ser365Ter) n.6379C>A c.2450C>A (p.Ser817Ter) c.2357C>A (p.Ser786Ter) c.2276C>A (p.Ser759Ter) c.2252C>A (p.Ser751Ter) c.2159C>A (p.Ser720Ter) c.1385C>A (p.Ser462Ter) c.1298C>A (p.Ser433Ter) c.1211C>A (p.Ser404Ter) c.772-1085C>A (n.772-1085C>A) n.1018C>A | |
17 | g.46024032C= | CA2262106927 | MAPT | c.1100C= (p.Ser367=) c.1013C= (p.Ser338=) c.1187C= (p.Ser396=) n.413C= n.371C= n.605C= c.2363C= (p.Ser788=) c.2072C= (p.Ser691=) c.1007C= (p.Ser336=) c.1136C= (p.Ser379=) c.2138C= (p.Ser713=) c.920C= (p.Ser307=) c.2192C= (p.Ser731=) c.1094C= (p.Ser365=) n.6379C= c.2450C= (p.Ser817=) c.2357C= (p.Ser786=) c.2276C= (p.Ser759=) c.2252C= (p.Ser751=) c.2159C= (p.Ser720=) c.1385C= (p.Ser462=) c.1298C= (p.Ser433=) c.1211C= (p.Ser404=) c.772-1085C= (n.772-1085C=) n.1018C= | |
17 | g.46024032C>G | CA399984428 | MAPT | c.1100C>G (p.Ser367Trp) c.1013C>G (p.Ser338Trp) c.1187C>G (p.Ser396Trp) n.413C>G n.371C>G n.605C>G c.2363C>G (p.Ser788Trp) c.2072C>G (p.Ser691Trp) c.1007C>G (p.Ser336Trp) c.1136C>G (p.Ser379Trp) c.2138C>G (p.Ser713Trp) c.920C>G (p.Ser307Trp) c.2192C>G (p.Ser731Trp) c.1094C>G (p.Ser365Trp) n.6379C>G c.2450C>G (p.Ser817Trp) c.2357C>G (p.Ser786Trp) c.2276C>G (p.Ser759Trp) c.2252C>G (p.Ser751Trp) c.2159C>G (p.Ser720Trp) c.1385C>G (p.Ser462Trp) c.1298C>G (p.Ser433Trp) c.1211C>G (p.Ser404Trp) c.772-1085C>G (n.772-1085C>G) n.1018C>G | |
17 | g.46024032C>T | CA399984427 | MAPT | c.1100C>T (p.Ser367Leu) c.1013C>T (p.Ser338Leu) c.1187C>T (p.Ser396Leu) n.413C>T n.371C>T n.605C>T c.2363C>T (p.Ser788Leu) c.2072C>T (p.Ser691Leu) c.1007C>T (p.Ser336Leu) c.1136C>T (p.Ser379Leu) c.2138C>T (p.Ser713Leu) c.920C>T (p.Ser307Leu) c.2192C>T (p.Ser731Leu) c.1094C>T (p.Ser365Leu) n.6379C>T c.2450C>T (p.Ser817Leu) c.2357C>T (p.Ser786Leu) c.2276C>T (p.Ser759Leu) c.2252C>T (p.Ser751Leu) c.2159C>T (p.Ser720Leu) c.1385C>T (p.Ser462Leu) c.1298C>T (p.Ser433Leu) c.1211C>T (p.Ser404Leu) c.772-1085C>T (n.772-1085C>T) n.1018C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46024032_46024033insCCCC | CA2525340748 | MAPT | c.1100_1101insCCCC (p.Val369AlafsTer?) c.1013_1014insCCCC (p.Val340AlafsTer?) c.1187_1188insCCCC (p.Val398AlafsTer?) n.413_414insCCCC n.371_372insCCCC n.605_606insCCCC c.2363_2364insCCCC (p.Val790AlafsTer?) c.2072_2073insCCCC (p.Val693AlafsTer?) c.1007_1008insCCCC (p.Val338AlafsTer?) c.1136_1137insCCCC (p.Val381AlafsTer?) c.2138_2139insCCCC (p.Val715AlafsTer?) c.920_921insCCCC (p.Val309AlafsTer?) c.2192_2193insCCCC (p.Val733AlafsTer?) c.1094_1095insCCCC (p.Val367AlafsTer?) n.6379_6380insCCCC c.2450_2451insCCCC (p.Val819AlafsTer?) c.2357_2358insCCCC (p.Val788AlafsTer?) c.2276_2277insCCCC (p.Val761AlafsTer?) c.2252_2253insCCCC (p.Val753AlafsTer?) c.2159_2160insCCCC (p.Val722AlafsTer?) c.1385_1386insCCCC (p.Val464AlafsTer?) c.1298_1299insCCCC (p.Val435AlafsTer?) c.1211_1212insCCCC (p.Val406AlafsTer?) c.772-1085_772-1084insCCCC (n.772-1085_772-1084insCCCC) n.1018_1019insCCCC | |
17 | g.46024033G>A | CA8618258 | MAPT | c.1101G>A (p.Ser367=) c.1014G>A (p.Ser338=) c.1188G>A (p.Ser396=) n.414G>A n.372G>A n.606G>A c.2364G>A (p.Ser788=) c.2073G>A (p.Ser691=) c.1008G>A (p.Ser336=) c.1137G>A (p.Ser379=) c.2139G>A (p.Ser713=) c.921G>A (p.Ser307=) c.2193G>A (p.Ser731=) c.1095G>A (p.Ser365=) n.6380G>A c.2451G>A (p.Ser817=) c.2358G>A (p.Ser786=) c.2277G>A (p.Ser759=) c.2253G>A (p.Ser751=) c.2160G>A (p.Ser720=) c.1386G>A (p.Ser462=) c.1299G>A (p.Ser433=) c.1212G>A (p.Ser404=) c.772-1084G>A (n.772-1084G>A) n.1019G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46024033G>C | CA500371450 | MAPT | c.1101G>C (p.Ser367=) c.1014G>C (p.Ser338=) c.1188G>C (p.Ser396=) n.414G>C n.372G>C n.606G>C c.2364G>C (p.Ser788=) c.2073G>C (p.Ser691=) c.1008G>C (p.Ser336=) c.1137G>C (p.Ser379=) c.2139G>C (p.Ser713=) c.921G>C (p.Ser307=) c.2193G>C (p.Ser731=) c.1095G>C (p.Ser365=) n.6380G>C c.2451G>C (p.Ser817=) c.2358G>C (p.Ser786=) c.2277G>C (p.Ser759=) c.2253G>C (p.Ser751=) c.2160G>C (p.Ser720=) c.1386G>C (p.Ser462=) c.1299G>C (p.Ser433=) c.1212G>C (p.Ser404=) c.772-1084G>C (n.772-1084G>C) n.1019G>C | |
17 | g.46024033G= | CA2262106928 | MAPT | c.1101G= (p.Ser367=) c.1014G= (p.Ser338=) c.1188G= (p.Ser396=) n.414G= n.372G= n.606G= c.2364G= (p.Ser788=) c.2073G= (p.Ser691=) c.1008G= (p.Ser336=) c.1137G= (p.Ser379=) c.2139G= (p.Ser713=) c.921G= (p.Ser307=) c.2193G= (p.Ser731=) c.1095G= (p.Ser365=) n.6380G= c.2451G= (p.Ser817=) c.2358G= (p.Ser786=) c.2277G= (p.Ser759=) c.2253G= (p.Ser751=) c.2160G= (p.Ser720=) c.1386G= (p.Ser462=) c.1299G= (p.Ser433=) c.1212G= (p.Ser404=) c.772-1084G= (n.772-1084G=) n.1019G= | |
17 | g.46024033G>T | CA500371451 | MAPT | c.1101G>T (p.Ser367=) c.1014G>T (p.Ser338=) c.1188G>T (p.Ser396=) n.414G>T n.372G>T n.606G>T c.2364G>T (p.Ser788=) c.2073G>T (p.Ser691=) c.1008G>T (p.Ser336=) c.1137G>T (p.Ser379=) c.2139G>T (p.Ser713=) c.921G>T (p.Ser307=) c.2193G>T (p.Ser731=) c.1095G>T (p.Ser365=) n.6380G>T c.2451G>T (p.Ser817=) c.2358G>T (p.Ser786=) c.2277G>T (p.Ser759=) c.2253G>T (p.Ser751=) c.2160G>T (p.Ser720=) c.1386G>T (p.Ser462=) c.1299G>T (p.Ser433=) c.1212G>T (p.Ser404=) c.772-1084G>T (n.772-1084G>T) n.1019G>T | |
17 | g.46024034C>A | CA399984430 | MAPT | c.1102C>A (p.Pro368Thr) c.1015C>A (p.Pro339Thr) c.1189C>A (p.Pro397Thr) n.415C>A n.373C>A n.607C>A c.2365C>A (p.Pro789Thr) c.2074C>A (p.Pro692Thr) c.1009C>A (p.Pro337Thr) c.1138C>A (p.Pro380Thr) c.2140C>A (p.Pro714Thr) c.922C>A (p.Pro308Thr) c.2194C>A (p.Pro732Thr) c.1096C>A (p.Pro366Thr) n.6381C>A c.2452C>A (p.Pro818Thr) c.2359C>A (p.Pro787Thr) c.2278C>A (p.Pro760Thr) c.2254C>A (p.Pro752Thr) c.2161C>A (p.Pro721Thr) c.1387C>A (p.Pro463Thr) c.1300C>A (p.Pro434Thr) c.1213C>A (p.Pro405Thr) c.772-1083C>A (n.772-1083C>A) n.1020C>A | |
17 | g.46024034C= | CA2262106929 | MAPT | c.1102C= (p.Pro368=) c.1015C= (p.Pro339=) c.1189C= (p.Pro397=) n.415C= n.373C= n.607C= c.2365C= (p.Pro789=) c.2074C= (p.Pro692=) c.1009C= (p.Pro337=) c.1138C= (p.Pro380=) c.2140C= (p.Pro714=) c.922C= (p.Pro308=) c.2194C= (p.Pro732=) c.1096C= (p.Pro366=) n.6381C= c.2452C= (p.Pro818=) c.2359C= (p.Pro787=) c.2278C= (p.Pro760=) c.2254C= (p.Pro752=) c.2161C= (p.Pro721=) c.1387C= (p.Pro463=) c.1300C= (p.Pro434=) c.1213C= (p.Pro405=) c.772-1083C= (n.772-1083C=) n.1020C= | |
17 | g.46024034C>G | CA399984431 | MAPT | c.1102C>G (p.Pro368Ala) c.1015C>G (p.Pro339Ala) c.1189C>G (p.Pro397Ala) n.415C>G n.373C>G n.607C>G c.2365C>G (p.Pro789Ala) c.2074C>G (p.Pro692Ala) c.1009C>G (p.Pro337Ala) c.1138C>G (p.Pro380Ala) c.2140C>G (p.Pro714Ala) c.922C>G (p.Pro308Ala) c.2194C>G (p.Pro732Ala) c.1096C>G (p.Pro366Ala) n.6381C>G c.2452C>G (p.Pro818Ala) c.2359C>G (p.Pro787Ala) c.2278C>G (p.Pro760Ala) c.2254C>G (p.Pro752Ala) c.2161C>G (p.Pro721Ala) c.1387C>G (p.Pro463Ala) c.1300C>G (p.Pro434Ala) c.1213C>G (p.Pro405Ala) c.772-1083C>G (n.772-1083C>G) n.1020C>G | gnomAD v4 |
17 | g.46024034C>T | CA399984432 | MAPT | c.1102C>T (p.Pro368Ser) c.1015C>T (p.Pro339Ser) c.1189C>T (p.Pro397Ser) n.415C>T n.373C>T n.607C>T c.2365C>T (p.Pro789Ser) c.2074C>T (p.Pro692Ser) c.1009C>T (p.Pro337Ser) c.1138C>T (p.Pro380Ser) c.2140C>T (p.Pro714Ser) c.922C>T (p.Pro308Ser) c.2194C>T (p.Pro732Ser) c.1096C>T (p.Pro366Ser) n.6381C>T c.2452C>T (p.Pro818Ser) c.2359C>T (p.Pro787Ser) c.2278C>T (p.Pro760Ser) c.2254C>T (p.Pro752Ser) c.2161C>T (p.Pro721Ser) c.1387C>T (p.Pro463Ser) c.1300C>T (p.Pro434Ser) c.1213C>T (p.Pro405Ser) c.772-1083C>T (n.772-1083C>T) n.1020C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46024035C>A | CA399984433 | MAPT | c.1103C>A (p.Pro368Gln) c.1016C>A (p.Pro339Gln) c.1190C>A (p.Pro397Gln) n.416C>A n.374C>A n.608C>A c.2366C>A (p.Pro789Gln) c.2075C>A (p.Pro692Gln) c.1010C>A (p.Pro337Gln) c.1139C>A (p.Pro380Gln) c.2141C>A (p.Pro714Gln) c.923C>A (p.Pro308Gln) c.2195C>A (p.Pro732Gln) c.1097C>A (p.Pro366Gln) n.6382C>A c.2453C>A (p.Pro818Gln) c.2360C>A (p.Pro787Gln) c.2279C>A (p.Pro760Gln) c.2255C>A (p.Pro752Gln) c.2162C>A (p.Pro721Gln) c.1388C>A (p.Pro463Gln) c.1301C>A (p.Pro434Gln) c.1214C>A (p.Pro405Gln) c.772-1082C>A (n.772-1082C>A) n.1021C>A | |
17 | g.46024035C>G | CA399984434 | MAPT | c.1103C>G (p.Pro368Arg) c.1016C>G (p.Pro339Arg) c.1190C>G (p.Pro397Arg) n.416C>G n.374C>G n.608C>G c.2366C>G (p.Pro789Arg) c.2075C>G (p.Pro692Arg) c.1010C>G (p.Pro337Arg) c.1139C>G (p.Pro380Arg) c.2141C>G (p.Pro714Arg) c.923C>G (p.Pro308Arg) c.2195C>G (p.Pro732Arg) c.1097C>G (p.Pro366Arg) n.6382C>G c.2453C>G (p.Pro818Arg) c.2360C>G (p.Pro787Arg) c.2279C>G (p.Pro760Arg) c.2255C>G (p.Pro752Arg) c.2162C>G (p.Pro721Arg) c.1388C>G (p.Pro463Arg) c.1301C>G (p.Pro434Arg) c.1214C>G (p.Pro405Arg) c.772-1082C>G (n.772-1082C>G) n.1021C>G | |
17 | g.46024035C>T | CA399984435 | MAPT | c.1103C>T (p.Pro368Leu) c.1016C>T (p.Pro339Leu) c.1190C>T (p.Pro397Leu) n.416C>T n.374C>T n.608C>T c.2366C>T (p.Pro789Leu) c.2075C>T (p.Pro692Leu) c.1010C>T (p.Pro337Leu) c.1139C>T (p.Pro380Leu) c.2141C>T (p.Pro714Leu) c.923C>T (p.Pro308Leu) c.2195C>T (p.Pro732Leu) c.1097C>T (p.Pro366Leu) n.6382C>T c.2453C>T (p.Pro818Leu) c.2360C>T (p.Pro787Leu) c.2279C>T (p.Pro760Leu) c.2255C>T (p.Pro752Leu) c.2162C>T (p.Pro721Leu) c.1388C>T (p.Pro463Leu) c.1301C>T (p.Pro434Leu) c.1214C>T (p.Pro405Leu) c.772-1082C>T (n.772-1082C>T) n.1021C>T | |
17 | g.46024036A= | CA2262106930 | MAPT | c.1104A= (p.Pro368=) c.1017A= (p.Pro339=) c.1191A= (p.Pro397=) n.417A= n.375A= n.609A= c.2367A= (p.Pro789=) c.2076A= (p.Pro692=) c.1011A= (p.Pro337=) c.1140A= (p.Pro380=) c.2142A= (p.Pro714=) c.924A= (p.Pro308=) c.2196A= (p.Pro732=) c.1098A= (p.Pro366=) n.6383A= c.2454A= (p.Pro818=) c.2361A= (p.Pro787=) c.2280A= (p.Pro760=) c.2256A= (p.Pro752=) c.2163A= (p.Pro721=) c.1389A= (p.Pro463=) c.1302A= (p.Pro434=) c.1215A= (p.Pro405=) c.772-1081A= (n.772-1081A=) n.1022A= | |
17 | g.46024036A>C | CA500371454 | MAPT | c.1104A>C (p.Pro368=) c.1017A>C (p.Pro339=) c.1191A>C (p.Pro397=) n.417A>C n.375A>C n.609A>C c.2367A>C (p.Pro789=) c.2076A>C (p.Pro692=) c.1011A>C (p.Pro337=) c.1140A>C (p.Pro380=) c.2142A>C (p.Pro714=) c.924A>C (p.Pro308=) c.2196A>C (p.Pro732=) c.1098A>C (p.Pro366=) n.6383A>C c.2454A>C (p.Pro818=) c.2361A>C (p.Pro787=) c.2280A>C (p.Pro760=) c.2256A>C (p.Pro752=) c.2163A>C (p.Pro721=) c.1389A>C (p.Pro463=) c.1302A>C (p.Pro434=) c.1215A>C (p.Pro405=) c.772-1081A>C (n.772-1081A>C) n.1022A>C | |
17 | g.46024036A>G | CA500371453 | MAPT | c.1104A>G (p.Pro368=) c.1017A>G (p.Pro339=) c.1191A>G (p.Pro397=) n.417A>G n.375A>G n.609A>G c.2367A>G (p.Pro789=) c.2076A>G (p.Pro692=) c.1011A>G (p.Pro337=) c.1140A>G (p.Pro380=) c.2142A>G (p.Pro714=) c.924A>G (p.Pro308=) c.2196A>G (p.Pro732=) c.1098A>G (p.Pro366=) n.6383A>G c.2454A>G (p.Pro818=) c.2361A>G (p.Pro787=) c.2280A>G (p.Pro760=) c.2256A>G (p.Pro752=) c.2163A>G (p.Pro721=) c.1389A>G (p.Pro463=) c.1302A>G (p.Pro434=) c.1215A>G (p.Pro405=) c.772-1081A>G (n.772-1081A>G) n.1022A>G | dbSNP |
17 | g.46024036A>T | CA500371452 | MAPT | c.1104A>T (p.Pro368=) c.1017A>T (p.Pro339=) c.1191A>T (p.Pro397=) n.417A>T n.375A>T n.609A>T c.2367A>T (p.Pro789=) c.2076A>T (p.Pro692=) c.1011A>T (p.Pro337=) c.1140A>T (p.Pro380=) c.2142A>T (p.Pro714=) c.924A>T (p.Pro308=) c.2196A>T (p.Pro732=) c.1098A>T (p.Pro366=) n.6383A>T c.2454A>T (p.Pro818=) c.2361A>T (p.Pro787=) c.2280A>T (p.Pro760=) c.2256A>T (p.Pro752=) c.2163A>T (p.Pro721=) c.1389A>T (p.Pro463=) c.1302A>T (p.Pro434=) c.1215A>T (p.Pro405=) c.772-1081A>T (n.772-1081A>T) n.1022A>T | |
17 | g.46024037G>A | CA8618259 | MAPT | c.1105G>A (p.Val369Met) c.1018G>A (p.Val340Met) c.1192G>A (p.Val398Met) n.418G>A n.376G>A n.610G>A c.2368G>A (p.Val790Met) c.2077G>A (p.Val693Met) c.1012G>A (p.Val338Met) c.1141G>A (p.Val381Met) c.2143G>A (p.Val715Met) c.925G>A (p.Val309Met) c.2197G>A (p.Val733Met) c.1099G>A (p.Val367Met) n.6384G>A c.2455G>A (p.Val819Met) c.2362G>A (p.Val788Met) c.2281G>A (p.Val761Met) c.2257G>A (p.Val753Met) c.2164G>A (p.Val722Met) c.1390G>A (p.Val464Met) c.1303G>A (p.Val435Met) c.1216G>A (p.Val406Met) c.772-1080G>A (n.772-1080G>A) n.1023G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46024037G>C | CA399984436 | MAPT | c.1105G>C (p.Val369Leu) c.1018G>C (p.Val340Leu) c.1192G>C (p.Val398Leu) n.418G>C n.376G>C n.610G>C c.2368G>C (p.Val790Leu) c.2077G>C (p.Val693Leu) c.1012G>C (p.Val338Leu) c.1141G>C (p.Val381Leu) c.2143G>C (p.Val715Leu) c.925G>C (p.Val309Leu) c.2197G>C (p.Val733Leu) c.1099G>C (p.Val367Leu) n.6384G>C c.2455G>C (p.Val819Leu) c.2362G>C (p.Val788Leu) c.2281G>C (p.Val761Leu) c.2257G>C (p.Val753Leu) c.2164G>C (p.Val722Leu) c.1390G>C (p.Val464Leu) c.1303G>C (p.Val435Leu) c.1216G>C (p.Val406Leu) c.772-1080G>C (n.772-1080G>C) n.1023G>C | |
17 | g.46024037G= | CA2262106931 | MAPT | c.1105G= (p.Val369=) c.1018G= (p.Val340=) c.1192G= (p.Val398=) n.418G= n.376G= n.610G= c.2368G= (p.Val790=) c.2077G= (p.Val693=) c.1012G= (p.Val338=) c.1141G= (p.Val381=) c.2143G= (p.Val715=) c.925G= (p.Val309=) c.2197G= (p.Val733=) c.1099G= (p.Val367=) n.6384G= c.2455G= (p.Val819=) c.2362G= (p.Val788=) c.2281G= (p.Val761=) c.2257G= (p.Val753=) c.2164G= (p.Val722=) c.1390G= (p.Val464=) c.1303G= (p.Val435=) c.1216G= (p.Val406=) c.772-1080G= (n.772-1080G=) n.1023G= | |
17 | g.46024037G>T | CA399984437 | MAPT | c.1105G>T (p.Val369Leu) c.1018G>T (p.Val340Leu) c.1192G>T (p.Val398Leu) n.418G>T n.376G>T n.610G>T c.2368G>T (p.Val790Leu) c.2077G>T (p.Val693Leu) c.1012G>T (p.Val338Leu) c.1141G>T (p.Val381Leu) c.2143G>T (p.Val715Leu) c.925G>T (p.Val309Leu) c.2197G>T (p.Val733Leu) c.1099G>T (p.Val367Leu) n.6384G>T c.2455G>T (p.Val819Leu) c.2362G>T (p.Val788Leu) c.2281G>T (p.Val761Leu) c.2257G>T (p.Val753Leu) c.2164G>T (p.Val722Leu) c.1390G>T (p.Val464Leu) c.1303G>T (p.Val435Leu) c.1216G>T (p.Val406Leu) c.772-1080G>T (n.772-1080G>T) n.1023G>T | |
17 | g.46024037_46024042del | CA2554100730 | MAPT | c.1105_1110del (p.Val369_Val370del) c.1018_1023del (p.Val340_Val341del) c.1192_1197del (p.Val398_Val399del) n.418_423del n.376_381del n.610_615del c.2368_2373del (p.Val790_Val791del) c.2077_2082del (p.Val693_Val694del) c.1012_1017del (p.Val338_Val339del) c.1141_1146del (p.Val381_Val382del) c.2143_2148del (p.Val715_Val716del) c.925_930del (p.Val309_Val310del) c.2197_2202del (p.Val733_Val734del) c.1099_1104del (p.Val367_Val368del) n.6384_6389del c.2455_2460del (p.Val819_Val820del) c.2362_2367del (p.Val788_Val789del) c.2281_2286del (p.Val761_Val762del) c.2257_2262del (p.Val753_Val754del) c.2164_2169del (p.Val722_Val723del) c.1390_1395del (p.Val464_Val465del) c.1303_1308del (p.Val435_Val436del) c.1216_1221del (p.Val406_Val407del) c.772-1080_772-1075del (n.772-1080_772-1075del) n.1023_1028del | |
17 | g.46024038T>A | CA399984438 | MAPT | c.1106T>A (p.Val369Glu) c.1019T>A (p.Val340Glu) c.1193T>A (p.Val398Glu) n.419T>A n.377T>A n.611T>A c.2369T>A (p.Val790Glu) c.2078T>A (p.Val693Glu) c.1013T>A (p.Val338Glu) c.1142T>A (p.Val381Glu) c.2144T>A (p.Val715Glu) c.926T>A (p.Val309Glu) c.2198T>A (p.Val733Glu) c.1100T>A (p.Val367Glu) n.6385T>A c.2456T>A (p.Val819Glu) c.2363T>A (p.Val788Glu) c.2282T>A (p.Val761Glu) c.2258T>A (p.Val753Glu) c.2165T>A (p.Val722Glu) c.1391T>A (p.Val464Glu) c.1304T>A (p.Val435Glu) c.1217T>A (p.Val406Glu) c.772-1079T>A (n.772-1079T>A) n.1024T>A | |
17 | g.46024038T>C | CA8618260 | MAPT | c.1106T>C (p.Val369Ala) c.1019T>C (p.Val340Ala) c.1193T>C (p.Val398Ala) n.419T>C n.377T>C n.611T>C c.2369T>C (p.Val790Ala) c.2078T>C (p.Val693Ala) c.1013T>C (p.Val338Ala) c.1142T>C (p.Val381Ala) c.2144T>C (p.Val715Ala) c.926T>C (p.Val309Ala) c.2198T>C (p.Val733Ala) c.1100T>C (p.Val367Ala) n.6385T>C c.2456T>C (p.Val819Ala) c.2363T>C (p.Val788Ala) c.2282T>C (p.Val761Ala) c.2258T>C (p.Val753Ala) c.2165T>C (p.Val722Ala) c.1391T>C (p.Val464Ala) c.1304T>C (p.Val435Ala) c.1217T>C (p.Val406Ala) c.772-1079T>C (n.772-1079T>C) n.1024T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46024038T>G | CA399984439 | MAPT | c.1106T>G (p.Val369Gly) c.1019T>G (p.Val340Gly) c.1193T>G (p.Val398Gly) n.419T>G n.377T>G n.611T>G c.2369T>G (p.Val790Gly) c.2078T>G (p.Val693Gly) c.1013T>G (p.Val338Gly) c.1142T>G (p.Val381Gly) c.2144T>G (p.Val715Gly) c.926T>G (p.Val309Gly) c.2198T>G (p.Val733Gly) c.1100T>G (p.Val367Gly) n.6385T>G c.2456T>G (p.Val819Gly) c.2363T>G (p.Val788Gly) c.2282T>G (p.Val761Gly) c.2258T>G (p.Val753Gly) c.2165T>G (p.Val722Gly) c.1391T>G (p.Val464Gly) c.1304T>G (p.Val435Gly) c.1217T>G (p.Val406Gly) c.772-1079T>G (n.772-1079T>G) n.1024T>G | dbSNP |
17 | g.46024038T= | CA2262106932 | MAPT | c.1106T= (p.Val369=) c.1019T= (p.Val340=) c.1193T= (p.Val398=) n.419T= n.377T= n.611T= c.2369T= (p.Val790=) c.2078T= (p.Val693=) c.1013T= (p.Val338=) c.1142T= (p.Val381=) c.2144T= (p.Val715=) c.926T= (p.Val309=) c.2198T= (p.Val733=) c.1100T= (p.Val367=) n.6385T= c.2456T= (p.Val819=) c.2363T= (p.Val788=) c.2282T= (p.Val761=) c.2258T= (p.Val753=) c.2165T= (p.Val722=) c.1391T= (p.Val464=) c.1304T= (p.Val435=) c.1217T= (p.Val406=) c.772-1079T= (n.772-1079T=) n.1024T= | |
17 | g.46024039G>A | CA500371457 | MAPT | c.1107G>A (p.Val369=) c.1020G>A (p.Val340=) c.1194G>A (p.Val398=) n.420G>A n.378G>A n.612G>A c.2370G>A (p.Val790=) c.2079G>A (p.Val693=) c.1014G>A (p.Val338=) c.1143G>A (p.Val381=) c.2145G>A (p.Val715=) c.927G>A (p.Val309=) c.2199G>A (p.Val733=) c.1101G>A (p.Val367=) n.6386G>A c.2457G>A (p.Val819=) c.2364G>A (p.Val788=) c.2283G>A (p.Val761=) c.2259G>A (p.Val753=) c.2166G>A (p.Val722=) c.1392G>A (p.Val464=) c.1305G>A (p.Val435=) c.1218G>A (p.Val406=) c.772-1078G>A (n.772-1078G>A) n.1025G>A | |
17 | g.46024039G>C | CA500371456 | MAPT | c.1107G>C (p.Val369=) c.1020G>C (p.Val340=) c.1194G>C (p.Val398=) n.420G>C n.378G>C n.612G>C c.2370G>C (p.Val790=) c.2079G>C (p.Val693=) c.1014G>C (p.Val338=) c.1143G>C (p.Val381=) c.2145G>C (p.Val715=) c.927G>C (p.Val309=) c.2199G>C (p.Val733=) c.1101G>C (p.Val367=) n.6386G>C c.2457G>C (p.Val819=) c.2364G>C (p.Val788=) c.2283G>C (p.Val761=) c.2259G>C (p.Val753=) c.2166G>C (p.Val722=) c.1392G>C (p.Val464=) c.1305G>C (p.Val435=) c.1218G>C (p.Val406=) c.772-1078G>C (n.772-1078G>C) n.1025G>C | |
17 | g.46024039G= | CA2262106933 | MAPT | c.1107G= (p.Val369=) c.1020G= (p.Val340=) c.1194G= (p.Val398=) n.420G= n.378G= n.612G= c.2370G= (p.Val790=) c.2079G= (p.Val693=) c.1014G= (p.Val338=) c.1143G= (p.Val381=) c.2145G= (p.Val715=) c.927G= (p.Val309=) c.2199G= (p.Val733=) c.1101G= (p.Val367=) n.6386G= c.2457G= (p.Val819=) c.2364G= (p.Val788=) c.2283G= (p.Val761=) c.2259G= (p.Val753=) c.2166G= (p.Val722=) c.1392G= (p.Val464=) c.1305G= (p.Val435=) c.1218G= (p.Val406=) c.772-1078G= (n.772-1078G=) n.1025G= | |
17 | g.46024039G>T | CA500371455 | MAPT | c.1107G>T (p.Val369=) c.1020G>T (p.Val340=) c.1194G>T (p.Val398=) n.420G>T n.378G>T n.612G>T c.2370G>T (p.Val790=) c.2079G>T (p.Val693=) c.1014G>T (p.Val338=) c.1143G>T (p.Val381=) c.2145G>T (p.Val715=) c.927G>T (p.Val309=) c.2199G>T (p.Val733=) c.1101G>T (p.Val367=) n.6386G>T c.2457G>T (p.Val819=) c.2364G>T (p.Val788=) c.2283G>T (p.Val761=) c.2259G>T (p.Val753=) c.2166G>T (p.Val722=) c.1392G>T (p.Val464=) c.1305G>T (p.Val435=) c.1218G>T (p.Val406=) c.772-1078G>T (n.772-1078G>T) n.1025G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46024040G>A | CA399984441 | MAPT | c.1108G>A (p.Val370Met) c.1021G>A (p.Val341Met) c.1195G>A (p.Val399Met) n.421G>A n.379G>A n.613G>A c.2371G>A (p.Val791Met) c.2080G>A (p.Val694Met) c.1015G>A (p.Val339Met) c.1144G>A (p.Val382Met) c.2146G>A (p.Val716Met) c.928G>A (p.Val310Met) c.2200G>A (p.Val734Met) c.1102G>A (p.Val368Met) n.6387G>A c.2458G>A (p.Val820Met) c.2365G>A (p.Val789Met) c.2284G>A (p.Val762Met) c.2260G>A (p.Val754Met) c.2167G>A (p.Val723Met) c.1393G>A (p.Val465Met) c.1306G>A (p.Val436Met) c.1219G>A (p.Val407Met) c.772-1077G>A (n.772-1077G>A) n.1026G>A | gnomAD v4 |
17 | g.46024040G>C | CA399984442 | MAPT | c.1108G>C (p.Val370Leu) c.1021G>C (p.Val341Leu) c.1195G>C (p.Val399Leu) n.421G>C n.379G>C n.613G>C c.2371G>C (p.Val791Leu) c.2080G>C (p.Val694Leu) c.1015G>C (p.Val339Leu) c.1144G>C (p.Val382Leu) c.2146G>C (p.Val716Leu) c.928G>C (p.Val310Leu) c.2200G>C (p.Val734Leu) c.1102G>C (p.Val368Leu) n.6387G>C c.2458G>C (p.Val820Leu) c.2365G>C (p.Val789Leu) c.2284G>C (p.Val762Leu) c.2260G>C (p.Val754Leu) c.2167G>C (p.Val723Leu) c.1393G>C (p.Val465Leu) c.1306G>C (p.Val436Leu) c.1219G>C (p.Val407Leu) c.772-1077G>C (n.772-1077G>C) n.1026G>C | |
17 | g.46024040G>T | CA399984440 | MAPT | c.1108G>T (p.Val370Leu) c.1021G>T (p.Val341Leu) c.1195G>T (p.Val399Leu) n.421G>T n.379G>T n.613G>T c.2371G>T (p.Val791Leu) c.2080G>T (p.Val694Leu) c.1015G>T (p.Val339Leu) c.1144G>T (p.Val382Leu) c.2146G>T (p.Val716Leu) c.928G>T (p.Val310Leu) c.2200G>T (p.Val734Leu) c.1102G>T (p.Val368Leu) n.6387G>T c.2458G>T (p.Val820Leu) c.2365G>T (p.Val789Leu) c.2284G>T (p.Val762Leu) c.2260G>T (p.Val754Leu) c.2167G>T (p.Val723Leu) c.1393G>T (p.Val465Leu) c.1306G>T (p.Val436Leu) c.1219G>T (p.Val407Leu) c.772-1077G>T (n.772-1077G>T) n.1026G>T | |
17 | g.46024041T>A | CA399984443 | MAPT | c.1109T>A (p.Val370Glu) c.1022T>A (p.Val341Glu) c.1196T>A (p.Val399Glu) n.422T>A n.380T>A n.614T>A c.2372T>A (p.Val791Glu) c.2081T>A (p.Val694Glu) c.1016T>A (p.Val339Glu) c.1145T>A (p.Val382Glu) c.2147T>A (p.Val716Glu) c.929T>A (p.Val310Glu) c.2201T>A (p.Val734Glu) c.1103T>A (p.Val368Glu) n.6388T>A c.2459T>A (p.Val820Glu) c.2366T>A (p.Val789Glu) c.2285T>A (p.Val762Glu) c.2261T>A (p.Val754Glu) c.2168T>A (p.Val723Glu) c.1394T>A (p.Val465Glu) c.1307T>A (p.Val436Glu) c.1220T>A (p.Val407Glu) c.772-1076T>A (n.772-1076T>A) n.1027T>A | |
17 | g.46024041T>C | CA399984444 | MAPT | c.1109T>C (p.Val370Ala) c.1022T>C (p.Val341Ala) c.1196T>C (p.Val399Ala) n.422T>C n.380T>C n.614T>C c.2372T>C (p.Val791Ala) c.2081T>C (p.Val694Ala) c.1016T>C (p.Val339Ala) c.1145T>C (p.Val382Ala) c.2147T>C (p.Val716Ala) c.929T>C (p.Val310Ala) c.2201T>C (p.Val734Ala) c.1103T>C (p.Val368Ala) n.6388T>C c.2459T>C (p.Val820Ala) c.2366T>C (p.Val789Ala) c.2285T>C (p.Val762Ala) c.2261T>C (p.Val754Ala) c.2168T>C (p.Val723Ala) c.1394T>C (p.Val465Ala) c.1307T>C (p.Val436Ala) c.1220T>C (p.Val407Ala) c.772-1076T>C (n.772-1076T>C) n.1027T>C | |
17 | g.46024041T>G | CA399984445 | MAPT | c.1109T>G (p.Val370Gly) c.1022T>G (p.Val341Gly) c.1196T>G (p.Val399Gly) n.422T>G n.380T>G n.614T>G c.2372T>G (p.Val791Gly) c.2081T>G (p.Val694Gly) c.1016T>G (p.Val339Gly) c.1145T>G (p.Val382Gly) c.2147T>G (p.Val716Gly) c.929T>G (p.Val310Gly) c.2201T>G (p.Val734Gly) c.1103T>G (p.Val368Gly) n.6388T>G c.2459T>G (p.Val820Gly) c.2366T>G (p.Val789Gly) c.2285T>G (p.Val762Gly) c.2261T>G (p.Val754Gly) c.2168T>G (p.Val723Gly) c.1394T>G (p.Val465Gly) c.1307T>G (p.Val436Gly) c.1220T>G (p.Val407Gly) c.772-1076T>G (n.772-1076T>G) n.1027T>G | |
17 | g.46024042G>A | CA500371459 | MAPT | c.1110G>A (p.Val370=) c.1023G>A (p.Val341=) c.1197G>A (p.Val399=) n.423G>A n.381G>A n.615G>A c.2373G>A (p.Val791=) c.2082G>A (p.Val694=) c.1017G>A (p.Val339=) c.1146G>A (p.Val382=) c.2148G>A (p.Val716=) c.930G>A (p.Val310=) c.2202G>A (p.Val734=) c.1104G>A (p.Val368=) n.6389G>A c.2460G>A (p.Val820=) c.2367G>A (p.Val789=) c.2286G>A (p.Val762=) c.2262G>A (p.Val754=) c.2169G>A (p.Val723=) c.1395G>A (p.Val465=) c.1308G>A (p.Val436=) c.1221G>A (p.Val407=) c.772-1075G>A (n.772-1075G>A) n.1028G>A | |
17 | g.46024042G>C | CA500371458 | MAPT | c.1110G>C (p.Val370=) c.1023G>C (p.Val341=) c.1197G>C (p.Val399=) n.423G>C n.381G>C n.615G>C c.2373G>C (p.Val791=) c.2082G>C (p.Val694=) c.1017G>C (p.Val339=) c.1146G>C (p.Val382=) c.2148G>C (p.Val716=) c.930G>C (p.Val310=) c.2202G>C (p.Val734=) c.1104G>C (p.Val368=) n.6389G>C c.2460G>C (p.Val820=) c.2367G>C (p.Val789=) c.2286G>C (p.Val762=) c.2262G>C (p.Val754=) c.2169G>C (p.Val723=) c.1395G>C (p.Val465=) c.1308G>C (p.Val436=) c.1221G>C (p.Val407=) c.772-1075G>C (n.772-1075G>C) n.1028G>C | |
17 | g.46024042G>T | CA500371460 | MAPT | c.1110G>T (p.Val370=) c.1023G>T (p.Val341=) c.1197G>T (p.Val399=) n.423G>T n.381G>T n.615G>T c.2373G>T (p.Val791=) c.2082G>T (p.Val694=) c.1017G>T (p.Val339=) c.1146G>T (p.Val382=) c.2148G>T (p.Val716=) c.930G>T (p.Val310=) c.2202G>T (p.Val734=) c.1104G>T (p.Val368=) n.6389G>T c.2460G>T (p.Val820=) c.2367G>T (p.Val789=) c.2286G>T (p.Val762=) c.2262G>T (p.Val754=) c.2169G>T (p.Val723=) c.1395G>T (p.Val465=) c.1308G>T (p.Val436=) c.1221G>T (p.Val407=) c.772-1075G>T (n.772-1075G>T) n.1028G>T | |
17 | g.46024043T>A | CA399984446 | MAPT | c.1111T>A (p.Ser371Thr) c.1024T>A (p.Ser342Thr) c.1198T>A (p.Ser400Thr) n.424T>A n.382T>A n.616T>A c.2374T>A (p.Ser792Thr) c.2083T>A (p.Ser695Thr) c.1018T>A (p.Ser340Thr) c.1147T>A (p.Ser383Thr) c.2149T>A (p.Ser717Thr) c.931T>A (p.Ser311Thr) c.2203T>A (p.Ser735Thr) c.1105T>A (p.Ser369Thr) n.6390T>A c.2461T>A (p.Ser821Thr) c.2368T>A (p.Ser790Thr) c.2287T>A (p.Ser763Thr) c.2263T>A (p.Ser755Thr) c.2170T>A (p.Ser724Thr) c.1396T>A (p.Ser466Thr) c.1309T>A (p.Ser437Thr) c.1222T>A (p.Ser408Thr) c.772-1074T>A (n.772-1074T>A) n.1029T>A | |
17 | g.46024043T>C | CA399984447 | MAPT | c.1111T>C (p.Ser371Pro) c.1024T>C (p.Ser342Pro) c.1198T>C (p.Ser400Pro) n.424T>C n.382T>C n.616T>C c.2374T>C (p.Ser792Pro) c.2083T>C (p.Ser695Pro) c.1018T>C (p.Ser340Pro) c.1147T>C (p.Ser383Pro) c.2149T>C (p.Ser717Pro) c.931T>C (p.Ser311Pro) c.2203T>C (p.Ser735Pro) c.1105T>C (p.Ser369Pro) n.6390T>C c.2461T>C (p.Ser821Pro) c.2368T>C (p.Ser790Pro) c.2287T>C (p.Ser763Pro) c.2263T>C (p.Ser755Pro) c.2170T>C (p.Ser724Pro) c.1396T>C (p.Ser466Pro) c.1309T>C (p.Ser437Pro) c.1222T>C (p.Ser408Pro) c.772-1074T>C (n.772-1074T>C) n.1029T>C | |
17 | g.46024043T>G | CA399984448 | MAPT | c.1111T>G (p.Ser371Ala) c.1024T>G (p.Ser342Ala) c.1198T>G (p.Ser400Ala) n.424T>G n.382T>G n.616T>G c.2374T>G (p.Ser792Ala) c.2083T>G (p.Ser695Ala) c.1018T>G (p.Ser340Ala) c.1147T>G (p.Ser383Ala) c.2149T>G (p.Ser717Ala) c.931T>G (p.Ser311Ala) c.2203T>G (p.Ser735Ala) c.1105T>G (p.Ser369Ala) n.6390T>G c.2461T>G (p.Ser821Ala) c.2368T>G (p.Ser790Ala) c.2287T>G (p.Ser763Ala) c.2263T>G (p.Ser755Ala) c.2170T>G (p.Ser724Ala) c.1396T>G (p.Ser466Ala) c.1309T>G (p.Ser437Ala) c.1222T>G (p.Ser408Ala) c.772-1074T>G (n.772-1074T>G) n.1029T>G | |
17 | g.46024044C>A | CA399984449 | MAPT | c.1112C>A (p.Ser371Tyr) c.1025C>A (p.Ser342Tyr) c.1199C>A (p.Ser400Tyr) n.425C>A n.383C>A n.617C>A c.2375C>A (p.Ser792Tyr) c.2084C>A (p.Ser695Tyr) c.1019C>A (p.Ser340Tyr) c.1148C>A (p.Ser383Tyr) c.2150C>A (p.Ser717Tyr) c.932C>A (p.Ser311Tyr) c.2204C>A (p.Ser735Tyr) c.1106C>A (p.Ser369Tyr) n.6391C>A c.2462C>A (p.Ser821Tyr) c.2369C>A (p.Ser790Tyr) c.2288C>A (p.Ser763Tyr) c.2264C>A (p.Ser755Tyr) c.2171C>A (p.Ser724Tyr) c.1397C>A (p.Ser466Tyr) c.1310C>A (p.Ser437Tyr) c.1223C>A (p.Ser408Tyr) c.772-1073C>A (n.772-1073C>A) n.1030C>A | |
17 | g.46024044C>G | CA399984450 | MAPT | c.1112C>G (p.Ser371Cys) c.1025C>G (p.Ser342Cys) c.1199C>G (p.Ser400Cys) n.425C>G n.383C>G n.617C>G c.2375C>G (p.Ser792Cys) c.2084C>G (p.Ser695Cys) c.1019C>G (p.Ser340Cys) c.1148C>G (p.Ser383Cys) c.2150C>G (p.Ser717Cys) c.932C>G (p.Ser311Cys) c.2204C>G (p.Ser735Cys) c.1106C>G (p.Ser369Cys) n.6391C>G c.2462C>G (p.Ser821Cys) c.2369C>G (p.Ser790Cys) c.2288C>G (p.Ser763Cys) c.2264C>G (p.Ser755Cys) c.2171C>G (p.Ser724Cys) c.1397C>G (p.Ser466Cys) c.1310C>G (p.Ser437Cys) c.1223C>G (p.Ser408Cys) c.772-1073C>G (n.772-1073C>G) n.1030C>G | gnomAD v4 |
17 | g.46024044C>T | CA399984451 | MAPT | c.1112C>T (p.Ser371Phe) c.1025C>T (p.Ser342Phe) c.1199C>T (p.Ser400Phe) n.425C>T n.383C>T n.617C>T c.2375C>T (p.Ser792Phe) c.2084C>T (p.Ser695Phe) c.1019C>T (p.Ser340Phe) c.1148C>T (p.Ser383Phe) c.2150C>T (p.Ser717Phe) c.932C>T (p.Ser311Phe) c.2204C>T (p.Ser735Phe) c.1106C>T (p.Ser369Phe) n.6391C>T c.2462C>T (p.Ser821Phe) c.2369C>T (p.Ser790Phe) c.2288C>T (p.Ser763Phe) c.2264C>T (p.Ser755Phe) c.2171C>T (p.Ser724Phe) c.1397C>T (p.Ser466Phe) c.1310C>T (p.Ser437Phe) c.1223C>T (p.Ser408Phe) c.772-1073C>T (n.772-1073C>T) n.1030C>T | |
17 | g.46024045T>A | CA500371463 | MAPT | c.1113T>A (p.Ser371=) c.1026T>A (p.Ser342=) c.1200T>A (p.Ser400=) n.426T>A n.384T>A n.618T>A c.2376T>A (p.Ser792=) c.2085T>A (p.Ser695=) c.1020T>A (p.Ser340=) c.1149T>A (p.Ser383=) c.2151T>A (p.Ser717=) c.933T>A (p.Ser311=) c.2205T>A (p.Ser735=) c.1107T>A (p.Ser369=) n.6392T>A c.2463T>A (p.Ser821=) c.2370T>A (p.Ser790=) c.2289T>A (p.Ser763=) c.2265T>A (p.Ser755=) c.2172T>A (p.Ser724=) c.1398T>A (p.Ser466=) c.1311T>A (p.Ser437=) c.1224T>A (p.Ser408=) c.772-1072T>A (n.772-1072T>A) n.1031T>A | |
17 | g.46024045T>C | CA500371462 | MAPT | c.1113T>C (p.Ser371=) c.1026T>C (p.Ser342=) c.1200T>C (p.Ser400=) n.426T>C n.384T>C n.618T>C c.2376T>C (p.Ser792=) c.2085T>C (p.Ser695=) c.1020T>C (p.Ser340=) c.1149T>C (p.Ser383=) c.2151T>C (p.Ser717=) c.933T>C (p.Ser311=) c.2205T>C (p.Ser735=) c.1107T>C (p.Ser369=) n.6392T>C c.2463T>C (p.Ser821=) c.2370T>C (p.Ser790=) c.2289T>C (p.Ser763=) c.2265T>C (p.Ser755=) c.2172T>C (p.Ser724=) c.1398T>C (p.Ser466=) c.1311T>C (p.Ser437=) c.1224T>C (p.Ser408=) c.772-1072T>C (n.772-1072T>C) n.1031T>C | |
17 | g.46024045T>G | CA500371461 | MAPT | c.1113T>G (p.Ser371=) c.1026T>G (p.Ser342=) c.1200T>G (p.Ser400=) n.426T>G n.384T>G n.618T>G c.2376T>G (p.Ser792=) c.2085T>G (p.Ser695=) c.1020T>G (p.Ser340=) c.1149T>G (p.Ser383=) c.2151T>G (p.Ser717=) c.933T>G (p.Ser311=) c.2205T>G (p.Ser735=) c.1107T>G (p.Ser369=) n.6392T>G c.2463T>G (p.Ser821=) c.2370T>G (p.Ser790=) c.2289T>G (p.Ser763=) c.2265T>G (p.Ser755=) c.2172T>G (p.Ser724=) c.1398T>G (p.Ser466=) c.1311T>G (p.Ser437=) c.1224T>G (p.Ser408=) c.772-1072T>G (n.772-1072T>G) n.1031T>G | |
17 | g.46024045_46024046insCC | CA2567727287 | MAPT | c.1113_1114insCC (p.Gly372ProfsTer21) c.1026_1027insCC (p.Gly343ProfsTer21) c.1200_1201insCC (p.Gly401ProfsTer21) n.426_427insCC n.384_385insCC n.618_619insCC c.2376_2377insCC (p.Gly793ProfsTer21) c.2085_2086insCC (p.Gly696ProfsTer21) c.1020_1021insCC (p.Gly341ProfsTer21) c.1149_1150insCC (p.Gly384ProfsTer21) c.2151_2152insCC (p.Gly718ProfsTer21) c.933_934insCC (p.Gly312ProfsTer21) c.2205_2206insCC (p.Gly736ProfsTer21) c.1107_1108insCC (p.Gly370ProfsTer21) n.6392_6393insCC c.2463_2464insCC (p.Gly822ProfsTer21) c.2370_2371insCC (p.Gly791ProfsTer21) c.2289_2290insCC (p.Gly764ProfsTer21) c.2265_2266insCC (p.Gly756ProfsTer21) c.2172_2173insCC (p.Gly725ProfsTer21) c.1398_1399insCC (p.Gly467ProfsTer21) c.1311_1312insCC (p.Gly438ProfsTer21) c.1224_1225insCC (p.Gly409ProfsTer21) c.772-1072_772-1071insCC (n.772-1072_772-1071insCC) n.1031_1032insCC | |
17 | g.46024046G>A | CA399984452 | MAPT | c.1114G>A (p.Gly372Arg) c.1027G>A (p.Gly343Arg) c.1201G>A (p.Gly401Arg) n.427G>A n.385G>A n.619G>A c.2377G>A (p.Gly793Arg) c.2086G>A (p.Gly696Arg) c.1021G>A (p.Gly341Arg) c.1150G>A (p.Gly384Arg) c.2152G>A (p.Gly718Arg) c.934G>A (p.Gly312Arg) c.2206G>A (p.Gly736Arg) c.1108G>A (p.Gly370Arg) n.6393G>A c.2464G>A (p.Gly822Arg) c.2371G>A (p.Gly791Arg) c.2290G>A (p.Gly764Arg) c.2266G>A (p.Gly756Arg) c.2173G>A (p.Gly725Arg) c.1399G>A (p.Gly467Arg) c.1312G>A (p.Gly438Arg) c.1225G>A (p.Gly409Arg) c.772-1071G>A (n.772-1071G>A) n.1032G>A | |
17 | g.46024046G>C | CA399984453 | MAPT | c.1114G>C (p.Gly372Arg) c.1027G>C (p.Gly343Arg) c.1201G>C (p.Gly401Arg) n.427G>C n.385G>C n.619G>C c.2377G>C (p.Gly793Arg) c.2086G>C (p.Gly696Arg) c.1021G>C (p.Gly341Arg) c.1150G>C (p.Gly384Arg) c.2152G>C (p.Gly718Arg) c.934G>C (p.Gly312Arg) c.2206G>C (p.Gly736Arg) c.1108G>C (p.Gly370Arg) n.6393G>C c.2464G>C (p.Gly822Arg) c.2371G>C (p.Gly791Arg) c.2290G>C (p.Gly764Arg) c.2266G>C (p.Gly756Arg) c.2173G>C (p.Gly725Arg) c.1399G>C (p.Gly467Arg) c.1312G>C (p.Gly438Arg) c.1225G>C (p.Gly409Arg) c.772-1071G>C (n.772-1071G>C) n.1032G>C | |
17 | g.46024046G>T | CA399984454 | MAPT | c.1114G>T (p.Gly372Trp) c.1027G>T (p.Gly343Trp) c.1201G>T (p.Gly401Trp) n.427G>T n.385G>T n.619G>T c.2377G>T (p.Gly793Trp) c.2086G>T (p.Gly696Trp) c.1021G>T (p.Gly341Trp) c.1150G>T (p.Gly384Trp) c.2152G>T (p.Gly718Trp) c.934G>T (p.Gly312Trp) c.2206G>T (p.Gly736Trp) c.1108G>T (p.Gly370Trp) n.6393G>T c.2464G>T (p.Gly822Trp) c.2371G>T (p.Gly791Trp) c.2290G>T (p.Gly764Trp) c.2266G>T (p.Gly756Trp) c.2173G>T (p.Gly725Trp) c.1399G>T (p.Gly467Trp) c.1312G>T (p.Gly438Trp) c.1225G>T (p.Gly409Trp) c.772-1071G>T (n.772-1071G>T) n.1032G>T | |
17 | g.46024049del | CA2839162075 | MAPT | c.1117del (p.Asp373ThrfsTer19) c.1030del (p.Asp344ThrfsTer19) c.1204del (p.Asp402ThrfsTer19) n.430del n.388del n.622del c.2380del (p.Asp794ThrfsTer19) c.2089del (p.Asp697ThrfsTer19) c.1024del (p.Asp342ThrfsTer19) c.1153del (p.Asp385ThrfsTer19) c.2155del (p.Asp719ThrfsTer19) c.937del (p.Asp313ThrfsTer19) c.2209del (p.Asp737ThrfsTer19) c.1111del (p.Asp371ThrfsTer19) n.6396del c.2467del (p.Asp823ThrfsTer19) c.2374del (p.Asp792ThrfsTer19) c.2293del (p.Asp765ThrfsTer19) c.2269del (p.Asp757ThrfsTer19) c.2176del (p.Asp726ThrfsTer19) c.1402del (p.Asp468ThrfsTer19) c.1315del (p.Asp439ThrfsTer19) c.1228del (p.Asp410ThrfsTer19) c.772-1068del (n.772-1068del) n.1035del | |
17 | g.46024047G>A | CA399984457 | MAPT | c.1115G>A (p.Gly372Glu) c.1028G>A (p.Gly343Glu) c.1202G>A (p.Gly401Glu) n.428G>A n.386G>A n.620G>A c.2378G>A (p.Gly793Glu) c.2087G>A (p.Gly696Glu) c.1022G>A (p.Gly341Glu) c.1151G>A (p.Gly384Glu) c.2153G>A (p.Gly718Glu) c.935G>A (p.Gly312Glu) c.2207G>A (p.Gly736Glu) c.1109G>A (p.Gly370Glu) n.6394G>A c.2465G>A (p.Gly822Glu) c.2372G>A (p.Gly791Glu) c.2291G>A (p.Gly764Glu) c.2267G>A (p.Gly756Glu) c.2174G>A (p.Gly725Glu) c.1400G>A (p.Gly467Glu) c.1313G>A (p.Gly438Glu) c.1226G>A (p.Gly409Glu) c.772-1070G>A (n.772-1070G>A) n.1033G>A | |
17 | g.46024047G>C | CA399984455 | MAPT | c.1115G>C (p.Gly372Ala) c.1028G>C (p.Gly343Ala) c.1202G>C (p.Gly401Ala) n.428G>C n.386G>C n.620G>C c.2378G>C (p.Gly793Ala) c.2087G>C (p.Gly696Ala) c.1022G>C (p.Gly341Ala) c.1151G>C (p.Gly384Ala) c.2153G>C (p.Gly718Ala) c.935G>C (p.Gly312Ala) c.2207G>C (p.Gly736Ala) c.1109G>C (p.Gly370Ala) n.6394G>C c.2465G>C (p.Gly822Ala) c.2372G>C (p.Gly791Ala) c.2291G>C (p.Gly764Ala) c.2267G>C (p.Gly756Ala) c.2174G>C (p.Gly725Ala) c.1400G>C (p.Gly467Ala) c.1313G>C (p.Gly438Ala) c.1226G>C (p.Gly409Ala) c.772-1070G>C (n.772-1070G>C) n.1033G>C | |
17 | g.46024047G>T | CA399984456 | MAPT | c.1115G>T (p.Gly372Val) c.1028G>T (p.Gly343Val) c.1202G>T (p.Gly401Val) n.428G>T n.386G>T n.620G>T c.2378G>T (p.Gly793Val) c.2087G>T (p.Gly696Val) c.1022G>T (p.Gly341Val) c.1151G>T (p.Gly384Val) c.2153G>T (p.Gly718Val) c.935G>T (p.Gly312Val) c.2207G>T (p.Gly736Val) c.1109G>T (p.Gly370Val) n.6394G>T c.2465G>T (p.Gly822Val) c.2372G>T (p.Gly791Val) c.2291G>T (p.Gly764Val) c.2267G>T (p.Gly756Val) c.2174G>T (p.Gly725Val) c.1400G>T (p.Gly467Val) c.1313G>T (p.Gly438Val) c.1226G>T (p.Gly409Val) c.772-1070G>T (n.772-1070G>T) n.1033G>T | |
17 | g.46024048G>A | CA500371466 | MAPT | c.1116G>A (p.Gly372=) c.1029G>A (p.Gly343=) c.1203G>A (p.Gly401=) n.429G>A n.387G>A n.621G>A c.2379G>A (p.Gly793=) c.2088G>A (p.Gly696=) c.1023G>A (p.Gly341=) c.1152G>A (p.Gly384=) c.2154G>A (p.Gly718=) c.936G>A (p.Gly312=) c.2208G>A (p.Gly736=) c.1110G>A (p.Gly370=) n.6395G>A c.2466G>A (p.Gly822=) c.2373G>A (p.Gly791=) c.2292G>A (p.Gly764=) c.2268G>A (p.Gly756=) c.2175G>A (p.Gly725=) c.1401G>A (p.Gly467=) c.1314G>A (p.Gly438=) c.1227G>A (p.Gly409=) c.772-1069G>A (n.772-1069G>A) n.1034G>A | gnomAD v4 |
17 | g.46024048G>C | CA500371464 | MAPT | c.1116G>C (p.Gly372=) c.1029G>C (p.Gly343=) c.1203G>C (p.Gly401=) n.429G>C n.387G>C n.621G>C c.2379G>C (p.Gly793=) c.2088G>C (p.Gly696=) c.1023G>C (p.Gly341=) c.1152G>C (p.Gly384=) c.2154G>C (p.Gly718=) c.936G>C (p.Gly312=) c.2208G>C (p.Gly736=) c.1110G>C (p.Gly370=) n.6395G>C c.2466G>C (p.Gly822=) c.2373G>C (p.Gly791=) c.2292G>C (p.Gly764=) c.2268G>C (p.Gly756=) c.2175G>C (p.Gly725=) c.1401G>C (p.Gly467=) c.1314G>C (p.Gly438=) c.1227G>C (p.Gly409=) c.772-1069G>C (n.772-1069G>C) n.1034G>C | |
17 | g.46024048G>T | CA500371465 | MAPT | c.1116G>T (p.Gly372=) c.1029G>T (p.Gly343=) c.1203G>T (p.Gly401=) n.429G>T n.387G>T n.621G>T c.2379G>T (p.Gly793=) c.2088G>T (p.Gly696=) c.1023G>T (p.Gly341=) c.1152G>T (p.Gly384=) c.2154G>T (p.Gly718=) c.936G>T (p.Gly312=) c.2208G>T (p.Gly736=) c.1110G>T (p.Gly370=) n.6395G>T c.2466G>T (p.Gly822=) c.2373G>T (p.Gly791=) c.2292G>T (p.Gly764=) c.2268G>T (p.Gly756=) c.2175G>T (p.Gly725=) c.1401G>T (p.Gly467=) c.1314G>T (p.Gly438=) c.1227G>T (p.Gly409=) c.772-1069G>T (n.772-1069G>T) n.1034G>T | |
17 | g.46024049G>A | CA399984458 | MAPT | c.1117G>A (p.Asp373Asn) c.1030G>A (p.Asp344Asn) c.1204G>A (p.Asp402Asn) n.430G>A n.388G>A n.622G>A c.2380G>A (p.Asp794Asn) c.2089G>A (p.Asp697Asn) c.1024G>A (p.Asp342Asn) c.1153G>A (p.Asp385Asn) c.2155G>A (p.Asp719Asn) c.937G>A (p.Asp313Asn) c.2209G>A (p.Asp737Asn) c.1111G>A (p.Asp371Asn) n.6396G>A c.2467G>A (p.Asp823Asn) c.2374G>A (p.Asp792Asn) c.2293G>A (p.Asp765Asn) c.2269G>A (p.Asp757Asn) c.2176G>A (p.Asp726Asn) c.1402G>A (p.Asp468Asn) c.1315G>A (p.Asp439Asn) c.1228G>A (p.Asp410Asn) c.772-1068G>A (n.772-1068G>A) n.1035G>A | gnomAD v4 |
17 | g.46024049G>C | CA399984459 | MAPT | c.1117G>C (p.Asp373His) c.1030G>C (p.Asp344His) c.1204G>C (p.Asp402His) n.430G>C n.388G>C n.622G>C c.2380G>C (p.Asp794His) c.2089G>C (p.Asp697His) c.1024G>C (p.Asp342His) c.1153G>C (p.Asp385His) c.2155G>C (p.Asp719His) c.937G>C (p.Asp313His) c.2209G>C (p.Asp737His) c.1111G>C (p.Asp371His) n.6396G>C c.2467G>C (p.Asp823His) c.2374G>C (p.Asp792His) c.2293G>C (p.Asp765His) c.2269G>C (p.Asp757His) c.2176G>C (p.Asp726His) c.1402G>C (p.Asp468His) c.1315G>C (p.Asp439His) c.1228G>C (p.Asp410His) c.772-1068G>C (n.772-1068G>C) n.1035G>C | |
17 | g.46024049G>T | CA399984460 | MAPT | c.1117G>T (p.Asp373Tyr) c.1030G>T (p.Asp344Tyr) c.1204G>T (p.Asp402Tyr) n.430G>T n.388G>T n.622G>T c.2380G>T (p.Asp794Tyr) c.2089G>T (p.Asp697Tyr) c.1024G>T (p.Asp342Tyr) c.1153G>T (p.Asp385Tyr) c.2155G>T (p.Asp719Tyr) c.937G>T (p.Asp313Tyr) c.2209G>T (p.Asp737Tyr) c.1111G>T (p.Asp371Tyr) n.6396G>T c.2467G>T (p.Asp823Tyr) c.2374G>T (p.Asp792Tyr) c.2293G>T (p.Asp765Tyr) c.2269G>T (p.Asp757Tyr) c.2176G>T (p.Asp726Tyr) c.1402G>T (p.Asp468Tyr) c.1315G>T (p.Asp439Tyr) c.1228G>T (p.Asp410Tyr) c.772-1068G>T (n.772-1068G>T) n.1035G>T | |
17 | g.46024050A>C | CA399984461 | MAPT | c.1118A>C (p.Asp373Ala) c.1031A>C (p.Asp344Ala) c.1205A>C (p.Asp402Ala) n.431A>C n.389A>C n.623A>C c.2381A>C (p.Asp794Ala) c.2090A>C (p.Asp697Ala) c.1025A>C (p.Asp342Ala) c.1154A>C (p.Asp385Ala) c.2156A>C (p.Asp719Ala) c.938A>C (p.Asp313Ala) c.2210A>C (p.Asp737Ala) c.1112A>C (p.Asp371Ala) n.6397A>C c.2468A>C (p.Asp823Ala) c.2375A>C (p.Asp792Ala) c.2294A>C (p.Asp765Ala) c.2270A>C (p.Asp757Ala) c.2177A>C (p.Asp726Ala) c.1403A>C (p.Asp468Ala) c.1316A>C (p.Asp439Ala) c.1229A>C (p.Asp410Ala) c.772-1067A>C (n.772-1067A>C) n.1036A>C | |
17 | g.46024050A>G | CA399984462 | MAPT | c.1118A>G (p.Asp373Gly) c.1031A>G (p.Asp344Gly) c.1205A>G (p.Asp402Gly) n.431A>G n.389A>G n.623A>G c.2381A>G (p.Asp794Gly) c.2090A>G (p.Asp697Gly) c.1025A>G (p.Asp342Gly) c.1154A>G (p.Asp385Gly) c.2156A>G (p.Asp719Gly) c.938A>G (p.Asp313Gly) c.2210A>G (p.Asp737Gly) c.1112A>G (p.Asp371Gly) n.6397A>G c.2468A>G (p.Asp823Gly) c.2375A>G (p.Asp792Gly) c.2294A>G (p.Asp765Gly) c.2270A>G (p.Asp757Gly) c.2177A>G (p.Asp726Gly) c.1403A>G (p.Asp468Gly) c.1316A>G (p.Asp439Gly) c.1229A>G (p.Asp410Gly) c.772-1067A>G (n.772-1067A>G) n.1036A>G | |
17 | g.46024050A>T | CA399984463 | MAPT | c.1118A>T (p.Asp373Val) c.1031A>T (p.Asp344Val) c.1205A>T (p.Asp402Val) n.431A>T n.389A>T n.623A>T c.2381A>T (p.Asp794Val) c.2090A>T (p.Asp697Val) c.1025A>T (p.Asp342Val) c.1154A>T (p.Asp385Val) c.2156A>T (p.Asp719Val) c.938A>T (p.Asp313Val) c.2210A>T (p.Asp737Val) c.1112A>T (p.Asp371Val) n.6397A>T c.2468A>T (p.Asp823Val) c.2375A>T (p.Asp792Val) c.2294A>T (p.Asp765Val) c.2270A>T (p.Asp757Val) c.2177A>T (p.Asp726Val) c.1403A>T (p.Asp468Val) c.1316A>T (p.Asp439Val) c.1229A>T (p.Asp410Val) c.772-1067A>T (n.772-1067A>T) n.1036A>T | |
17 | g.46024051C>A | CA399984464 | MAPT | c.1119C>A (p.Asp373Glu) c.1032C>A (p.Asp344Glu) c.1206C>A (p.Asp402Glu) n.432C>A n.390C>A n.624C>A c.2382C>A (p.Asp794Glu) c.2091C>A (p.Asp697Glu) c.1026C>A (p.Asp342Glu) c.1155C>A (p.Asp385Glu) c.2157C>A (p.Asp719Glu) c.939C>A (p.Asp313Glu) c.2211C>A (p.Asp737Glu) c.1113C>A (p.Asp371Glu) n.6398C>A c.2469C>A (p.Asp823Glu) c.2376C>A (p.Asp792Glu) c.2295C>A (p.Asp765Glu) c.2271C>A (p.Asp757Glu) c.2178C>A (p.Asp726Glu) c.1404C>A (p.Asp468Glu) c.1317C>A (p.Asp439Glu) c.1230C>A (p.Asp410Glu) c.772-1066C>A (n.772-1066C>A) n.1037C>A | gnomAD v4 |
17 | g.46024051C= | CA2262106934 | MAPT | c.1119C= (p.Asp373=) c.1032C= (p.Asp344=) c.1206C= (p.Asp402=) n.432C= n.390C= n.624C= c.2382C= (p.Asp794=) c.2091C= (p.Asp697=) c.1026C= (p.Asp342=) c.1155C= (p.Asp385=) c.2157C= (p.Asp719=) c.939C= (p.Asp313=) c.2211C= (p.Asp737=) c.1113C= (p.Asp371=) n.6398C= c.2469C= (p.Asp823=) c.2376C= (p.Asp792=) c.2295C= (p.Asp765=) c.2271C= (p.Asp757=) c.2178C= (p.Asp726=) c.1404C= (p.Asp468=) c.1317C= (p.Asp439=) c.1230C= (p.Asp410=) c.772-1066C= (n.772-1066C=) n.1037C= | |
17 | g.46024051C>G | CA399984465 | MAPT | c.1119C>G (p.Asp373Glu) c.1032C>G (p.Asp344Glu) c.1206C>G (p.Asp402Glu) n.432C>G n.390C>G n.624C>G c.2382C>G (p.Asp794Glu) c.2091C>G (p.Asp697Glu) c.1026C>G (p.Asp342Glu) c.1155C>G (p.Asp385Glu) c.2157C>G (p.Asp719Glu) c.939C>G (p.Asp313Glu) c.2211C>G (p.Asp737Glu) c.1113C>G (p.Asp371Glu) n.6398C>G c.2469C>G (p.Asp823Glu) c.2376C>G (p.Asp792Glu) c.2295C>G (p.Asp765Glu) c.2271C>G (p.Asp757Glu) c.2178C>G (p.Asp726Glu) c.1404C>G (p.Asp468Glu) c.1317C>G (p.Asp439Glu) c.1230C>G (p.Asp410Glu) c.772-1066C>G (n.772-1066C>G) n.1037C>G | |
17 | g.46024051C>T | CA500371467 | MAPT | c.1119C>T (p.Asp373=) c.1032C>T (p.Asp344=) c.1206C>T (p.Asp402=) n.432C>T n.390C>T n.624C>T c.2382C>T (p.Asp794=) c.2091C>T (p.Asp697=) c.1026C>T (p.Asp342=) c.1155C>T (p.Asp385=) c.2157C>T (p.Asp719=) c.939C>T (p.Asp313=) c.2211C>T (p.Asp737=) c.1113C>T (p.Asp371=) n.6398C>T c.2469C>T (p.Asp823=) c.2376C>T (p.Asp792=) c.2295C>T (p.Asp765=) c.2271C>T (p.Asp757=) c.2178C>T (p.Asp726=) c.1404C>T (p.Asp468=) c.1317C>T (p.Asp439=) c.1230C>T (p.Asp410=) c.772-1066C>T (n.772-1066C>T) n.1037C>T | dbSNP |
17 | g.46024052A>C | CA399984466 | MAPT | c.1120A>C (p.Thr374Pro) c.1033A>C (p.Thr345Pro) c.1207A>C (p.Thr403Pro) n.433A>C n.391A>C n.625A>C c.2383A>C (p.Thr795Pro) c.2092A>C (p.Thr698Pro) c.1027A>C (p.Thr343Pro) c.1156A>C (p.Thr386Pro) c.2158A>C (p.Thr720Pro) c.940A>C (p.Thr314Pro) c.2212A>C (p.Thr738Pro) c.1114A>C (p.Thr372Pro) n.6399A>C c.2470A>C (p.Thr824Pro) c.2377A>C (p.Thr793Pro) c.2296A>C (p.Thr766Pro) c.2272A>C (p.Thr758Pro) c.2179A>C (p.Thr727Pro) c.1405A>C (p.Thr469Pro) c.1318A>C (p.Thr440Pro) c.1231A>C (p.Thr411Pro) c.772-1065A>C (n.772-1065A>C) n.1038A>C | |
17 | g.46024052A>G | CA399984467 | MAPT | c.1120A>G (p.Thr374Ala) c.1033A>G (p.Thr345Ala) c.1207A>G (p.Thr403Ala) n.433A>G n.391A>G n.625A>G c.2383A>G (p.Thr795Ala) c.2092A>G (p.Thr698Ala) c.1027A>G (p.Thr343Ala) c.1156A>G (p.Thr386Ala) c.2158A>G (p.Thr720Ala) c.940A>G (p.Thr314Ala) c.2212A>G (p.Thr738Ala) c.1114A>G (p.Thr372Ala) n.6399A>G c.2470A>G (p.Thr824Ala) c.2377A>G (p.Thr793Ala) c.2296A>G (p.Thr766Ala) c.2272A>G (p.Thr758Ala) c.2179A>G (p.Thr727Ala) c.1405A>G (p.Thr469Ala) c.1318A>G (p.Thr440Ala) c.1231A>G (p.Thr411Ala) c.772-1065A>G (n.772-1065A>G) n.1038A>G | |
17 | g.46024052A>T | CA399984468 | MAPT | c.1120A>T (p.Thr374Ser) c.1033A>T (p.Thr345Ser) c.1207A>T (p.Thr403Ser) n.433A>T n.391A>T n.625A>T c.2383A>T (p.Thr795Ser) c.2092A>T (p.Thr698Ser) c.1027A>T (p.Thr343Ser) c.1156A>T (p.Thr386Ser) c.2158A>T (p.Thr720Ser) c.940A>T (p.Thr314Ser) c.2212A>T (p.Thr738Ser) c.1114A>T (p.Thr372Ser) n.6399A>T c.2470A>T (p.Thr824Ser) c.2377A>T (p.Thr793Ser) c.2296A>T (p.Thr766Ser) c.2272A>T (p.Thr758Ser) c.2179A>T (p.Thr727Ser) c.1405A>T (p.Thr469Ser) c.1318A>T (p.Thr440Ser) c.1231A>T (p.Thr411Ser) c.772-1065A>T (n.772-1065A>T) n.1038A>T | |
17 | g.46024053C>A | CA399984470 | MAPT | c.1121C>A (p.Thr374Lys) c.1034C>A (p.Thr345Lys) c.1208C>A (p.Thr403Lys) n.434C>A n.392C>A n.626C>A c.2384C>A (p.Thr795Lys) c.2093C>A (p.Thr698Lys) c.1028C>A (p.Thr343Lys) c.1157C>A (p.Thr386Lys) c.2159C>A (p.Thr720Lys) c.941C>A (p.Thr314Lys) c.2213C>A (p.Thr738Lys) c.1115C>A (p.Thr372Lys) n.6400C>A c.2471C>A (p.Thr824Lys) c.2378C>A (p.Thr793Lys) c.2297C>A (p.Thr766Lys) c.2273C>A (p.Thr758Lys) c.2180C>A (p.Thr727Lys) c.1406C>A (p.Thr469Lys) c.1319C>A (p.Thr440Lys) c.1232C>A (p.Thr411Lys) c.772-1064C>A (n.772-1064C>A) n.1039C>A | |
17 | g.46024053C= | CA2262106935 | MAPT | c.1121C= (p.Thr374=) c.1034C= (p.Thr345=) c.1208C= (p.Thr403=) n.434C= n.392C= n.626C= c.2384C= (p.Thr795=) c.2093C= (p.Thr698=) c.1028C= (p.Thr343=) c.1157C= (p.Thr386=) c.2159C= (p.Thr720=) c.941C= (p.Thr314=) c.2213C= (p.Thr738=) c.1115C= (p.Thr372=) n.6400C= c.2471C= (p.Thr824=) c.2378C= (p.Thr793=) c.2297C= (p.Thr766=) c.2273C= (p.Thr758=) c.2180C= (p.Thr727=) c.1406C= (p.Thr469=) c.1319C= (p.Thr440=) c.1232C= (p.Thr411=) c.772-1064C= (n.772-1064C=) n.1039C= | |
17 | g.46024053C>G | CA399984471 | MAPT | c.1121C>G (p.Thr374Arg) c.1034C>G (p.Thr345Arg) c.1208C>G (p.Thr403Arg) n.434C>G n.392C>G n.626C>G c.2384C>G (p.Thr795Arg) c.2093C>G (p.Thr698Arg) c.1028C>G (p.Thr343Arg) c.1157C>G (p.Thr386Arg) c.2159C>G (p.Thr720Arg) c.941C>G (p.Thr314Arg) c.2213C>G (p.Thr738Arg) c.1115C>G (p.Thr372Arg) n.6400C>G c.2471C>G (p.Thr824Arg) c.2378C>G (p.Thr793Arg) c.2297C>G (p.Thr766Arg) c.2273C>G (p.Thr758Arg) c.2180C>G (p.Thr727Arg) c.1406C>G (p.Thr469Arg) c.1319C>G (p.Thr440Arg) c.1232C>G (p.Thr411Arg) c.772-1064C>G (n.772-1064C>G) n.1039C>G | |
17 | g.46024053C>T | CA399984469 | MAPT | c.1121C>T (p.Thr374Met) c.1034C>T (p.Thr345Met) c.1208C>T (p.Thr403Met) n.434C>T n.392C>T n.626C>T c.2384C>T (p.Thr795Met) c.2093C>T (p.Thr698Met) c.1028C>T (p.Thr343Met) c.1157C>T (p.Thr386Met) c.2159C>T (p.Thr720Met) c.941C>T (p.Thr314Met) c.2213C>T (p.Thr738Met) c.1115C>T (p.Thr372Met) n.6400C>T c.2471C>T (p.Thr824Met) c.2378C>T (p.Thr793Met) c.2297C>T (p.Thr766Met) c.2273C>T (p.Thr758Met) c.2180C>T (p.Thr727Met) c.1406C>T (p.Thr469Met) c.1319C>T (p.Thr440Met) c.1232C>T (p.Thr411Met) c.772-1064C>T (n.772-1064C>T) n.1039C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46024054G>A | CA8618261 | MAPT | c.1122G>A (p.Thr374=) c.1035G>A (p.Thr345=) c.1209G>A (p.Thr403=) n.435G>A n.393G>A n.627G>A c.2385G>A (p.Thr795=) c.2094G>A (p.Thr698=) c.1029G>A (p.Thr343=) c.1158G>A (p.Thr386=) c.2160G>A (p.Thr720=) c.942G>A (p.Thr314=) c.2214G>A (p.Thr738=) c.1116G>A (p.Thr372=) n.6401G>A c.2472G>A (p.Thr824=) c.2379G>A (p.Thr793=) c.2298G>A (p.Thr766=) c.2274G>A (p.Thr758=) c.2181G>A (p.Thr727=) c.1407G>A (p.Thr469=) c.1320G>A (p.Thr440=) c.1233G>A (p.Thr411=) c.772-1063G>A (n.772-1063G>A) n.1040G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.46024054G>C | CA500371468 | MAPT | c.1122G>C (p.Thr374=) c.1035G>C (p.Thr345=) c.1209G>C (p.Thr403=) n.435G>C n.393G>C n.627G>C c.2385G>C (p.Thr795=) c.2094G>C (p.Thr698=) c.1029G>C (p.Thr343=) c.1158G>C (p.Thr386=) c.2160G>C (p.Thr720=) c.942G>C (p.Thr314=) c.2214G>C (p.Thr738=) c.1116G>C (p.Thr372=) n.6401G>C c.2472G>C (p.Thr824=) c.2379G>C (p.Thr793=) c.2298G>C (p.Thr766=) c.2274G>C (p.Thr758=) c.2181G>C (p.Thr727=) c.1407G>C (p.Thr469=) c.1320G>C (p.Thr440=) c.1233G>C (p.Thr411=) c.772-1063G>C (n.772-1063G>C) n.1040G>C | |
17 | g.46024054G= | CA2262106936 | MAPT | c.1122G= (p.Thr374=) c.1035G= (p.Thr345=) c.1209G= (p.Thr403=) n.435G= n.393G= n.627G= c.2385G= (p.Thr795=) c.2094G= (p.Thr698=) c.1029G= (p.Thr343=) c.1158G= (p.Thr386=) c.2160G= (p.Thr720=) c.942G= (p.Thr314=) c.2214G= (p.Thr738=) c.1116G= (p.Thr372=) n.6401G= c.2472G= (p.Thr824=) c.2379G= (p.Thr793=) c.2298G= (p.Thr766=) c.2274G= (p.Thr758=) c.2181G= (p.Thr727=) c.1407G= (p.Thr469=) c.1320G= (p.Thr440=) c.1233G= (p.Thr411=) c.772-1063G= (n.772-1063G=) n.1040G= | |
17 | g.46024054G>T | CA500371469 | MAPT | c.1122G>T (p.Thr374=) c.1035G>T (p.Thr345=) c.1209G>T (p.Thr403=) n.435G>T n.393G>T n.627G>T c.2385G>T (p.Thr795=) c.2094G>T (p.Thr698=) c.1029G>T (p.Thr343=) c.1158G>T (p.Thr386=) c.2160G>T (p.Thr720=) c.942G>T (p.Thr314=) c.2214G>T (p.Thr738=) c.1116G>T (p.Thr372=) n.6401G>T c.2472G>T (p.Thr824=) c.2379G>T (p.Thr793=) c.2298G>T (p.Thr766=) c.2274G>T (p.Thr758=) c.2181G>T (p.Thr727=) c.1407G>T (p.Thr469=) c.1320G>T (p.Thr440=) c.1233G>T (p.Thr411=) c.772-1063G>T (n.772-1063G>T) n.1040G>T | |
17 | g.46024055T>A | CA399984472 | MAPT | c.1123T>A (p.Ser375Thr) c.1036T>A (p.Ser346Thr) c.1210T>A (p.Ser404Thr) n.436T>A n.394T>A n.628T>A c.2386T>A (p.Ser796Thr) c.2095T>A (p.Ser699Thr) c.1030T>A (p.Ser344Thr) c.1159T>A (p.Ser387Thr) c.2161T>A (p.Ser721Thr) c.943T>A (p.Ser315Thr) c.2215T>A (p.Ser739Thr) c.1117T>A (p.Ser373Thr) n.6402T>A c.2473T>A (p.Ser825Thr) c.2380T>A (p.Ser794Thr) c.2299T>A (p.Ser767Thr) c.2275T>A (p.Ser759Thr) c.2182T>A (p.Ser728Thr) c.1408T>A (p.Ser470Thr) c.1321T>A (p.Ser441Thr) c.1234T>A (p.Ser412Thr) c.772-1062T>A (n.772-1062T>A) n.1041T>A | |
17 | g.46024055T>C | CA399984473 | MAPT | c.1123T>C (p.Ser375Pro) c.1036T>C (p.Ser346Pro) c.1210T>C (p.Ser404Pro) n.436T>C n.394T>C n.628T>C c.2386T>C (p.Ser796Pro) c.2095T>C (p.Ser699Pro) c.1030T>C (p.Ser344Pro) c.1159T>C (p.Ser387Pro) c.2161T>C (p.Ser721Pro) c.943T>C (p.Ser315Pro) c.2215T>C (p.Ser739Pro) c.1117T>C (p.Ser373Pro) n.6402T>C c.2473T>C (p.Ser825Pro) c.2380T>C (p.Ser794Pro) c.2299T>C (p.Ser767Pro) c.2275T>C (p.Ser759Pro) c.2182T>C (p.Ser728Pro) c.1408T>C (p.Ser470Pro) c.1321T>C (p.Ser441Pro) c.1234T>C (p.Ser412Pro) c.772-1062T>C (n.772-1062T>C) n.1041T>C | |
17 | g.46024055T>G | CA399984474 | MAPT | c.1123T>G (p.Ser375Ala) c.1036T>G (p.Ser346Ala) c.1210T>G (p.Ser404Ala) n.436T>G n.394T>G n.628T>G c.2386T>G (p.Ser796Ala) c.2095T>G (p.Ser699Ala) c.1030T>G (p.Ser344Ala) c.1159T>G (p.Ser387Ala) c.2161T>G (p.Ser721Ala) c.943T>G (p.Ser315Ala) c.2215T>G (p.Ser739Ala) c.1117T>G (p.Ser373Ala) n.6402T>G c.2473T>G (p.Ser825Ala) c.2380T>G (p.Ser794Ala) c.2299T>G (p.Ser767Ala) c.2275T>G (p.Ser759Ala) c.2182T>G (p.Ser728Ala) c.1408T>G (p.Ser470Ala) c.1321T>G (p.Ser441Ala) c.1234T>G (p.Ser412Ala) c.772-1062T>G (n.772-1062T>G) n.1041T>G | |
17 | g.46024056C>A | CA399984475 | MAPT | c.1124C>A (p.Ser375Tyr) c.1037C>A (p.Ser346Tyr) c.1211C>A (p.Ser404Tyr) n.437C>A n.395C>A n.629C>A c.2387C>A (p.Ser796Tyr) c.2096C>A (p.Ser699Tyr) c.1031C>A (p.Ser344Tyr) c.1160C>A (p.Ser387Tyr) c.2162C>A (p.Ser721Tyr) c.944C>A (p.Ser315Tyr) c.2216C>A (p.Ser739Tyr) c.1118C>A (p.Ser373Tyr) n.6403C>A c.2474C>A (p.Ser825Tyr) c.2381C>A (p.Ser794Tyr) c.2300C>A (p.Ser767Tyr) c.2276C>A (p.Ser759Tyr) c.2183C>A (p.Ser728Tyr) c.1409C>A (p.Ser470Tyr) c.1322C>A (p.Ser441Tyr) c.1235C>A (p.Ser412Tyr) c.772-1061C>A (n.772-1061C>A) n.1042C>A | |
17 | g.46024056C>G | CA399984476 | MAPT | c.1124C>G (p.Ser375Cys) c.1037C>G (p.Ser346Cys) c.1211C>G (p.Ser404Cys) n.437C>G n.395C>G n.629C>G c.2387C>G (p.Ser796Cys) c.2096C>G (p.Ser699Cys) c.1031C>G (p.Ser344Cys) c.1160C>G (p.Ser387Cys) c.2162C>G (p.Ser721Cys) c.944C>G (p.Ser315Cys) c.2216C>G (p.Ser739Cys) c.1118C>G (p.Ser373Cys) n.6403C>G c.2474C>G (p.Ser825Cys) c.2381C>G (p.Ser794Cys) c.2300C>G (p.Ser767Cys) c.2276C>G (p.Ser759Cys) c.2183C>G (p.Ser728Cys) c.1409C>G (p.Ser470Cys) c.1322C>G (p.Ser441Cys) c.1235C>G (p.Ser412Cys) c.772-1061C>G (n.772-1061C>G) n.1042C>G | |
17 | g.46024056C>T | CA399984477 | MAPT | c.1124C>T (p.Ser375Phe) c.1037C>T (p.Ser346Phe) c.1211C>T (p.Ser404Phe) n.437C>T n.395C>T n.629C>T c.2387C>T (p.Ser796Phe) c.2096C>T (p.Ser699Phe) c.1031C>T (p.Ser344Phe) c.1160C>T (p.Ser387Phe) c.2162C>T (p.Ser721Phe) c.944C>T (p.Ser315Phe) c.2216C>T (p.Ser739Phe) c.1118C>T (p.Ser373Phe) n.6403C>T c.2474C>T (p.Ser825Phe) c.2381C>T (p.Ser794Phe) c.2300C>T (p.Ser767Phe) c.2276C>T (p.Ser759Phe) c.2183C>T (p.Ser728Phe) c.1409C>T (p.Ser470Phe) c.1322C>T (p.Ser441Phe) c.1235C>T (p.Ser412Phe) c.772-1061C>T (n.772-1061C>T) n.1042C>T | |
17 | g.46024057T>A | CA500371470 | MAPT | c.1125T>A (p.Ser375=) c.1038T>A (p.Ser346=) c.1212T>A (p.Ser404=) n.438T>A n.396T>A n.630T>A c.2388T>A (p.Ser796=) c.2097T>A (p.Ser699=) c.1032T>A (p.Ser344=) c.1161T>A (p.Ser387=) c.2163T>A (p.Ser721=) c.945T>A (p.Ser315=) c.2217T>A (p.Ser739=) c.1119T>A (p.Ser373=) n.6404T>A c.2475T>A (p.Ser825=) c.2382T>A (p.Ser794=) c.2301T>A (p.Ser767=) c.2277T>A (p.Ser759=) c.2184T>A (p.Ser728=) c.1410T>A (p.Ser470=) c.1323T>A (p.Ser441=) c.1236T>A (p.Ser412=) c.772-1060T>A (n.772-1060T>A) n.1043T>A | |
17 | g.46024057T>C | CA500371471 | MAPT | c.1125T>C (p.Ser375=) c.1038T>C (p.Ser346=) c.1212T>C (p.Ser404=) n.438T>C n.396T>C n.630T>C c.2388T>C (p.Ser796=) c.2097T>C (p.Ser699=) c.1032T>C (p.Ser344=) c.1161T>C (p.Ser387=) c.2163T>C (p.Ser721=) c.945T>C (p.Ser315=) c.2217T>C (p.Ser739=) c.1119T>C (p.Ser373=) n.6404T>C c.2475T>C (p.Ser825=) c.2382T>C (p.Ser794=) c.2301T>C (p.Ser767=) c.2277T>C (p.Ser759=) c.2184T>C (p.Ser728=) c.1410T>C (p.Ser470=) c.1323T>C (p.Ser441=) c.1236T>C (p.Ser412=) c.772-1060T>C (n.772-1060T>C) n.1043T>C | |
17 | g.46024057T>G | CA500371472 | MAPT | c.1125T>G (p.Ser375=) c.1038T>G (p.Ser346=) c.1212T>G (p.Ser404=) n.438T>G n.396T>G n.630T>G c.2388T>G (p.Ser796=) c.2097T>G (p.Ser699=) c.1032T>G (p.Ser344=) c.1161T>G (p.Ser387=) c.2163T>G (p.Ser721=) c.945T>G (p.Ser315=) c.2217T>G (p.Ser739=) c.1119T>G (p.Ser373=) n.6404T>G c.2475T>G (p.Ser825=) c.2382T>G (p.Ser794=) c.2301T>G (p.Ser767=) c.2277T>G (p.Ser759=) c.2184T>G (p.Ser728=) c.1410T>G (p.Ser470=) c.1323T>G (p.Ser441=) c.1236T>G (p.Ser412=) c.772-1060T>G (n.772-1060T>G) n.1043T>G | |
17 | g.46024058C>A | CA399984480 | MAPT | c.1126C>A (p.Pro376Thr) c.1039C>A (p.Pro347Thr) c.1213C>A (p.Pro405Thr) n.439C>A n.397C>A n.631C>A c.2389C>A (p.Pro797Thr) c.2098C>A (p.Pro700Thr) c.1033C>A (p.Pro345Thr) c.1162C>A (p.Pro388Thr) c.2164C>A (p.Pro722Thr) c.946C>A (p.Pro316Thr) c.2218C>A (p.Pro740Thr) c.1120C>A (p.Pro374Thr) n.6405C>A c.2476C>A (p.Pro826Thr) c.2383C>A (p.Pro795Thr) c.2302C>A (p.Pro768Thr) c.2278C>A (p.Pro760Thr) c.2185C>A (p.Pro729Thr) c.1411C>A (p.Pro471Thr) c.1324C>A (p.Pro442Thr) c.1237C>A (p.Pro413Thr) c.772-1059C>A (n.772-1059C>A) n.1044C>A | |
17 | g.46024058C>G | CA399984478 | MAPT | c.1126C>G (p.Pro376Ala) c.1039C>G (p.Pro347Ala) c.1213C>G (p.Pro405Ala) n.439C>G n.397C>G n.631C>G c.2389C>G (p.Pro797Ala) c.2098C>G (p.Pro700Ala) c.1033C>G (p.Pro345Ala) c.1162C>G (p.Pro388Ala) c.2164C>G (p.Pro722Ala) c.946C>G (p.Pro316Ala) c.2218C>G (p.Pro740Ala) c.1120C>G (p.Pro374Ala) n.6405C>G c.2476C>G (p.Pro826Ala) c.2383C>G (p.Pro795Ala) c.2302C>G (p.Pro768Ala) c.2278C>G (p.Pro760Ala) c.2185C>G (p.Pro729Ala) c.1411C>G (p.Pro471Ala) c.1324C>G (p.Pro442Ala) c.1237C>G (p.Pro413Ala) c.772-1059C>G (n.772-1059C>G) n.1044C>G | |
17 | g.46024058C>T | CA399984479 | MAPT | c.1126C>T (p.Pro376Ser) c.1039C>T (p.Pro347Ser) c.1213C>T (p.Pro405Ser) n.439C>T n.397C>T n.631C>T c.2389C>T (p.Pro797Ser) c.2098C>T (p.Pro700Ser) c.1033C>T (p.Pro345Ser) c.1162C>T (p.Pro388Ser) c.2164C>T (p.Pro722Ser) c.946C>T (p.Pro316Ser) c.2218C>T (p.Pro740Ser) c.1120C>T (p.Pro374Ser) n.6405C>T c.2476C>T (p.Pro826Ser) c.2383C>T (p.Pro795Ser) c.2302C>T (p.Pro768Ser) c.2278C>T (p.Pro760Ser) c.2185C>T (p.Pro729Ser) c.1411C>T (p.Pro471Ser) c.1324C>T (p.Pro442Ser) c.1237C>T (p.Pro413Ser) c.772-1059C>T (n.772-1059C>T) n.1044C>T | |
17 | g.46024059dup | CA2839584585 | MAPT | c.1127dup (p.Arg377ThrfsTer25) c.1040dup (p.Arg348ThrfsTer25) c.1214dup (p.Arg406ThrfsTer25) n.440dup n.398dup n.632dup c.2390dup (p.Arg798ThrfsTer25) c.2099dup (p.Arg701ThrfsTer25) c.1034dup (p.Arg346ThrfsTer25) c.1163dup (p.Arg389ThrfsTer25) c.2165dup (p.Arg723ThrfsTer25) c.947dup (p.Arg317ThrfsTer25) c.2219dup (p.Arg741ThrfsTer25) c.1121dup (p.Arg375ThrfsTer25) n.6406dup c.2477dup (p.Arg827ThrfsTer25) c.2384dup (p.Arg796ThrfsTer25) c.2303dup (p.Arg769ThrfsTer25) c.2279dup (p.Arg761ThrfsTer25) c.2186dup (p.Arg730ThrfsTer25) c.1412dup (p.Arg472ThrfsTer25) c.1325dup (p.Arg443ThrfsTer25) c.1238dup (p.Arg414ThrfsTer25) c.772-1058dup (n.772-1058dup) n.1045dup | |
17 | g.46024059C>A | CA399984481 | MAPT | c.1127C>A (p.Pro376Gln) c.1040C>A (p.Pro347Gln) c.1214C>A (p.Pro405Gln) n.440C>A n.398C>A n.632C>A c.2390C>A (p.Pro797Gln) c.2099C>A (p.Pro700Gln) c.1034C>A (p.Pro345Gln) c.1163C>A (p.Pro388Gln) c.2165C>A (p.Pro722Gln) c.947C>A (p.Pro316Gln) c.2219C>A (p.Pro740Gln) c.1121C>A (p.Pro374Gln) n.6406C>A c.2477C>A (p.Pro826Gln) c.2384C>A (p.Pro795Gln) c.2303C>A (p.Pro768Gln) c.2279C>A (p.Pro760Gln) c.2186C>A (p.Pro729Gln) c.1412C>A (p.Pro471Gln) c.1325C>A (p.Pro442Gln) c.1238C>A (p.Pro413Gln) c.772-1058C>A (n.772-1058C>A) n.1045C>A | |
17 | g.46024059C>G | CA399984482 | MAPT | c.1127C>G (p.Pro376Arg) c.1040C>G (p.Pro347Arg) c.1214C>G (p.Pro405Arg) n.440C>G n.398C>G n.632C>G c.2390C>G (p.Pro797Arg) c.2099C>G (p.Pro700Arg) c.1034C>G (p.Pro345Arg) c.1163C>G (p.Pro388Arg) c.2165C>G (p.Pro722Arg) c.947C>G (p.Pro316Arg) c.2219C>G (p.Pro740Arg) c.1121C>G (p.Pro374Arg) n.6406C>G c.2477C>G (p.Pro826Arg) c.2384C>G (p.Pro795Arg) c.2303C>G (p.Pro768Arg) c.2279C>G (p.Pro760Arg) c.2186C>G (p.Pro729Arg) c.1412C>G (p.Pro471Arg) c.1325C>G (p.Pro442Arg) c.1238C>G (p.Pro413Arg) c.772-1058C>G (n.772-1058C>G) n.1045C>G | |
17 | g.46024059C>T | CA399984483 | MAPT | c.1127C>T (p.Pro376Leu) c.1040C>T (p.Pro347Leu) c.1214C>T (p.Pro405Leu) n.440C>T n.398C>T n.632C>T c.2390C>T (p.Pro797Leu) c.2099C>T (p.Pro700Leu) c.1034C>T (p.Pro345Leu) c.1163C>T (p.Pro388Leu) c.2165C>T (p.Pro722Leu) c.947C>T (p.Pro316Leu) c.2219C>T (p.Pro740Leu) c.1121C>T (p.Pro374Leu) n.6406C>T c.2477C>T (p.Pro826Leu) c.2384C>T (p.Pro795Leu) c.2303C>T (p.Pro768Leu) c.2279C>T (p.Pro760Leu) c.2186C>T (p.Pro729Leu) c.1412C>T (p.Pro471Leu) c.1325C>T (p.Pro442Leu) c.1238C>T (p.Pro413Leu) c.772-1058C>T (n.772-1058C>T) n.1045C>T | |
17 | g.46024060A>C | CA500371475 | MAPT | c.1128A>C (p.Pro376=) c.1041A>C (p.Pro347=) c.1215A>C (p.Pro405=) n.441A>C n.399A>C n.633A>C c.2391A>C (p.Pro797=) c.2100A>C (p.Pro700=) c.1035A>C (p.Pro345=) c.1164A>C (p.Pro388=) c.2166A>C (p.Pro722=) c.948A>C (p.Pro316=) c.2220A>C (p.Pro740=) c.1122A>C (p.Pro374=) n.6407A>C c.2478A>C (p.Pro826=) c.2385A>C (p.Pro795=) c.2304A>C (p.Pro768=) c.2280A>C (p.Pro760=) c.2187A>C (p.Pro729=) c.1413A>C (p.Pro471=) c.1326A>C (p.Pro442=) c.1239A>C (p.Pro413=) c.772-1057A>C (n.772-1057A>C) n.1046A>C | |
17 | g.46024060A>G | CA500371473 | MAPT | c.1128A>G (p.Pro376=) c.1041A>G (p.Pro347=) c.1215A>G (p.Pro405=) n.441A>G n.399A>G n.633A>G c.2391A>G (p.Pro797=) c.2100A>G (p.Pro700=) c.1035A>G (p.Pro345=) c.1164A>G (p.Pro388=) c.2166A>G (p.Pro722=) c.948A>G (p.Pro316=) c.2220A>G (p.Pro740=) c.1122A>G (p.Pro374=) n.6407A>G c.2478A>G (p.Pro826=) c.2385A>G (p.Pro795=) c.2304A>G (p.Pro768=) c.2280A>G (p.Pro760=) c.2187A>G (p.Pro729=) c.1413A>G (p.Pro471=) c.1326A>G (p.Pro442=) c.1239A>G (p.Pro413=) c.772-1057A>G (n.772-1057A>G) n.1046A>G | |
17 | g.46024060A>T | CA500371474 | MAPT | c.1128A>T (p.Pro376=) c.1041A>T (p.Pro347=) c.1215A>T (p.Pro405=) n.441A>T n.399A>T n.633A>T c.2391A>T (p.Pro797=) c.2100A>T (p.Pro700=) c.1035A>T (p.Pro345=) c.1164A>T (p.Pro388=) c.2166A>T (p.Pro722=) c.948A>T (p.Pro316=) c.2220A>T (p.Pro740=) c.1122A>T (p.Pro374=) n.6407A>T c.2478A>T (p.Pro826=) c.2385A>T (p.Pro795=) c.2304A>T (p.Pro768=) c.2280A>T (p.Pro760=) c.2187A>T (p.Pro729=) c.1413A>T (p.Pro471=) c.1326A>T (p.Pro442=) c.1239A>T (p.Pro413=) c.772-1057A>T (n.772-1057A>T) n.1046A>T | |
17 | g.46024061C>A | CA500371476 | MAPT | c.1129C>A (p.Arg377=) c.1042C>A (p.Arg348=) c.1216C>A (p.Arg406=) n.442C>A n.400C>A n.634C>A c.2392C>A (p.Arg798=) c.2101C>A (p.Arg701=) c.1036C>A (p.Arg346=) c.1165C>A (p.Arg389=) c.2167C>A (p.Arg723=) c.949C>A (p.Arg317=) c.2221C>A (p.Arg741=) c.1123C>A (p.Arg375=) n.6408C>A c.2479C>A (p.Arg827=) c.2386C>A (p.Arg796=) c.2305C>A (p.Arg769=) c.2281C>A (p.Arg761=) c.2188C>A (p.Arg730=) c.1414C>A (p.Arg472=) c.1327C>A (p.Arg443=) c.1240C>A (p.Arg414=) c.772-1056C>A (n.772-1056C>A) n.1047C>A | |
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= | |
17 | g.46024061C>G | CA399984484 | MAPT | c.1129C>G (p.Arg377Gly) c.1042C>G (p.Arg348Gly) c.1216C>G (p.Arg406Gly) n.442C>G n.400C>G n.634C>G c.2392C>G (p.Arg798Gly) c.2101C>G (p.Arg701Gly) c.1036C>G (p.Arg346Gly) c.1165C>G (p.Arg389Gly) c.2167C>G (p.Arg723Gly) c.949C>G (p.Arg317Gly) c.2221C>G (p.Arg741Gly) c.1123C>G (p.Arg375Gly) n.6408C>G c.2479C>G (p.Arg827Gly) c.2386C>G (p.Arg796Gly) c.2305C>G (p.Arg769Gly) c.2281C>G (p.Arg761Gly) c.2188C>G (p.Arg730Gly) c.1414C>G (p.Arg472Gly) c.1327C>G (p.Arg443Gly) c.1240C>G (p.Arg414Gly) c.772-1056C>G (n.772-1056C>G) n.1047C>G | |
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.46024062G>A | CA8618262 | MAPT | c.1130G>A (p.Arg377Gln) c.1043G>A (p.Arg348Gln) c.1217G>A (p.Arg406Gln) n.443G>A n.401G>A n.635G>A c.2393G>A (p.Arg798Gln) c.2102G>A (p.Arg701Gln) c.1037G>A (p.Arg346Gln) c.1166G>A (p.Arg389Gln) c.2168G>A (p.Arg723Gln) c.950G>A (p.Arg317Gln) c.2222G>A (p.Arg741Gln) c.1124G>A (p.Arg375Gln) n.6409G>A c.2480G>A (p.Arg827Gln) c.2387G>A (p.Arg796Gln) c.2306G>A (p.Arg769Gln) c.2282G>A (p.Arg761Gln) c.2189G>A (p.Arg730Gln) c.1415G>A (p.Arg472Gln) c.1328G>A (p.Arg443Gln) c.1241G>A (p.Arg414Gln) c.772-1055G>A (n.772-1055G>A) n.1048G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46024062G>C | CA291118013 | MAPT | c.1130G>C (p.Arg377Pro) c.1043G>C (p.Arg348Pro) c.1217G>C (p.Arg406Pro) n.443G>C n.401G>C n.635G>C c.2393G>C (p.Arg798Pro) c.2102G>C (p.Arg701Pro) c.1037G>C (p.Arg346Pro) c.1166G>C (p.Arg389Pro) c.2168G>C (p.Arg723Pro) c.950G>C (p.Arg317Pro) c.2222G>C (p.Arg741Pro) c.1124G>C (p.Arg375Pro) n.6409G>C c.2480G>C (p.Arg827Pro) c.2387G>C (p.Arg796Pro) c.2306G>C (p.Arg769Pro) c.2282G>C (p.Arg761Pro) c.2189G>C (p.Arg730Pro) c.1415G>C (p.Arg472Pro) c.1328G>C (p.Arg443Pro) c.1241G>C (p.Arg414Pro) c.772-1055G>C (n.772-1055G>C) n.1048G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46024062G= | CA2262106938 | MAPT | c.1130G= (p.Arg377=) c.1043G= (p.Arg348=) c.1217G= (p.Arg406=) n.443G= n.401G= n.635G= c.2393G= (p.Arg798=) c.2102G= (p.Arg701=) c.1037G= (p.Arg346=) c.1166G= (p.Arg389=) c.2168G= (p.Arg723=) c.950G= (p.Arg317=) c.2222G= (p.Arg741=) c.1124G= (p.Arg375=) n.6409G= c.2480G= (p.Arg827=) c.2387G= (p.Arg796=) c.2306G= (p.Arg769=) c.2282G= (p.Arg761=) c.2189G= (p.Arg730=) c.1415G= (p.Arg472=) c.1328G= (p.Arg443=) c.1241G= (p.Arg414=) c.772-1055G= (n.772-1055G=) n.1048G= | |
17 | g.46024062G>T | CA399984485 | MAPT | c.1130G>T (p.Arg377Leu) c.1043G>T (p.Arg348Leu) c.1217G>T (p.Arg406Leu) n.443G>T n.401G>T n.635G>T c.2393G>T (p.Arg798Leu) c.2102G>T (p.Arg701Leu) c.1037G>T (p.Arg346Leu) c.1166G>T (p.Arg389Leu) c.2168G>T (p.Arg723Leu) c.950G>T (p.Arg317Leu) c.2222G>T (p.Arg741Leu) c.1124G>T (p.Arg375Leu) n.6409G>T c.2480G>T (p.Arg827Leu) c.2387G>T (p.Arg796Leu) c.2306G>T (p.Arg769Leu) c.2282G>T (p.Arg761Leu) c.2189G>T (p.Arg730Leu) c.1415G>T (p.Arg472Leu) c.1328G>T (p.Arg443Leu) c.1241G>T (p.Arg414Leu) c.772-1055G>T (n.772-1055G>T) n.1048G>T | |
17 | g.46024062_46024063insCC | CA2559249970 | MAPT | c.1130_1131insCC (p.His378ArgfsTer15) c.1043_1044insCC (p.His349ArgfsTer15) c.1217_1218insCC (p.His407ArgfsTer15) n.443_444insCC n.401_402insCC n.635_636insCC c.2393_2394insCC (p.His799ArgfsTer15) c.2102_2103insCC (p.His702ArgfsTer15) c.1037_1038insCC (p.His347ArgfsTer15) c.1166_1167insCC (p.His390ArgfsTer15) c.2168_2169insCC (p.His724ArgfsTer15) c.950_951insCC (p.His318ArgfsTer15) c.2222_2223insCC (p.His742ArgfsTer15) c.1124_1125insCC (p.His376ArgfsTer15) n.6409_6410insCC c.2480_2481insCC (p.His828ArgfsTer15) c.2387_2388insCC (p.His797ArgfsTer15) c.2306_2307insCC (p.His770ArgfsTer15) c.2282_2283insCC (p.His762ArgfsTer15) c.2189_2190insCC (p.His731ArgfsTer15) c.1415_1416insCC (p.His473ArgfsTer15) c.1328_1329insCC (p.His444ArgfsTer15) c.1241_1242insCC (p.His415ArgfsTer15) c.772-1055_772-1054insCC (n.772-1055_772-1054insCC) n.1048_1049insCC | |
17 | g.46024063G>A | CA500371477 | MAPT | c.1131G>A (p.Arg377=) c.1044G>A (p.Arg348=) c.1218G>A (p.Arg406=) n.444G>A n.402G>A n.636G>A c.2394G>A (p.Arg798=) c.2103G>A (p.Arg701=) c.1038G>A (p.Arg346=) c.1167G>A (p.Arg389=) c.2169G>A (p.Arg723=) c.951G>A (p.Arg317=) c.2223G>A (p.Arg741=) c.1125G>A (p.Arg375=) n.6410G>A c.2481G>A (p.Arg827=) c.2388G>A (p.Arg796=) c.2307G>A (p.Arg769=) c.2283G>A (p.Arg761=) c.2190G>A (p.Arg730=) c.1416G>A (p.Arg472=) c.1329G>A (p.Arg443=) c.1242G>A (p.Arg414=) c.772-1054G>A (n.772-1054G>A) n.1049G>A | |
17 | g.46024063G>C | CA500371478 | MAPT | c.1131G>C (p.Arg377=) c.1044G>C (p.Arg348=) c.1218G>C (p.Arg406=) n.444G>C n.402G>C n.636G>C c.2394G>C (p.Arg798=) c.2103G>C (p.Arg701=) c.1038G>C (p.Arg346=) c.1167G>C (p.Arg389=) c.2169G>C (p.Arg723=) c.951G>C (p.Arg317=) c.2223G>C (p.Arg741=) c.1125G>C (p.Arg375=) n.6410G>C c.2481G>C (p.Arg827=) c.2388G>C (p.Arg796=) c.2307G>C (p.Arg769=) c.2283G>C (p.Arg761=) c.2190G>C (p.Arg730=) c.1416G>C (p.Arg472=) c.1329G>C (p.Arg443=) c.1242G>C (p.Arg414=) c.772-1054G>C (n.772-1054G>C) n.1049G>C | |
17 | g.46024063G>T | CA500371479 | MAPT | c.1131G>T (p.Arg377=) c.1044G>T (p.Arg348=) c.1218G>T (p.Arg406=) n.444G>T n.402G>T n.636G>T c.2394G>T (p.Arg798=) c.2103G>T (p.Arg701=) c.1038G>T (p.Arg346=) c.1167G>T (p.Arg389=) c.2169G>T (p.Arg723=) c.951G>T (p.Arg317=) c.2223G>T (p.Arg741=) c.1125G>T (p.Arg375=) n.6410G>T c.2481G>T (p.Arg827=) c.2388G>T (p.Arg796=) c.2307G>T (p.Arg769=) c.2283G>T (p.Arg761=) c.2190G>T (p.Arg730=) c.1416G>T (p.Arg472=) c.1329G>T (p.Arg443=) c.1242G>T (p.Arg414=) c.772-1054G>T (n.772-1054G>T) n.1049G>T |