Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.46018654A>C | CA399983694 | MAPT | c.947A>C (p.Asp316Ala) c.860A>C (p.Asp287Ala) c.1034A>C (p.Asp345Ala) n.805A>C n.260A>C n.218A>C n.452A>C c.2210A>C (p.Asp737Ala) c.1919A>C (p.Asp640Ala) c.854A>C (p.Asp285Ala) c.983A>C (p.Asp328Ala) c.1985A>C (p.Asp662Ala) c.767A>C (p.Asp256Ala) c.2039A>C (p.Asp680Ala) c.941A>C (p.Asp314Ala) n.813A>C n.6226A>C c.2297A>C (p.Asp766Ala) c.2204A>C (p.Asp735Ala) c.2123A>C (p.Asp708Ala) c.2099A>C (p.Asp700Ala) c.2006A>C (p.Asp669Ala) c.1232A>C (p.Asp411Ala) c.1145A>C (p.Asp382Ala) c.1058A>C (p.Asp353Ala) c.771+4376A>C (n.771+4376A>C) n.865A>C | |
17 | g.46018654A>G | CA399983696 | MAPT | c.947A>G (p.Asp316Gly) c.860A>G (p.Asp287Gly) c.1034A>G (p.Asp345Gly) n.805A>G n.260A>G n.218A>G n.452A>G c.2210A>G (p.Asp737Gly) c.1919A>G (p.Asp640Gly) c.854A>G (p.Asp285Gly) c.983A>G (p.Asp328Gly) c.1985A>G (p.Asp662Gly) c.767A>G (p.Asp256Gly) c.2039A>G (p.Asp680Gly) c.941A>G (p.Asp314Gly) n.813A>G n.6226A>G c.2297A>G (p.Asp766Gly) c.2204A>G (p.Asp735Gly) c.2123A>G (p.Asp708Gly) c.2099A>G (p.Asp700Gly) c.2006A>G (p.Asp669Gly) c.1232A>G (p.Asp411Gly) c.1145A>G (p.Asp382Gly) c.1058A>G (p.Asp353Gly) c.771+4376A>G (n.771+4376A>G) n.865A>G | |
17 | g.46018654A>T | CA399983695 | MAPT | c.947A>T (p.Asp316Val) c.860A>T (p.Asp287Val) c.1034A>T (p.Asp345Val) n.805A>T n.260A>T n.218A>T n.452A>T c.2210A>T (p.Asp737Val) c.1919A>T (p.Asp640Val) c.854A>T (p.Asp285Val) c.983A>T (p.Asp328Val) c.1985A>T (p.Asp662Val) c.767A>T (p.Asp256Val) c.2039A>T (p.Asp680Val) c.941A>T (p.Asp314Val) n.813A>T n.6226A>T c.2297A>T (p.Asp766Val) c.2204A>T (p.Asp735Val) c.2123A>T (p.Asp708Val) c.2099A>T (p.Asp700Val) c.2006A>T (p.Asp669Val) c.1232A>T (p.Asp411Val) c.1145A>T (p.Asp382Val) c.1058A>T (p.Asp353Val) c.771+4376A>T (n.771+4376A>T) n.865A>T | |
17 | g.46018655C>A | CA399983697 | MAPT | c.948C>A (p.Asp316Glu) c.861C>A (p.Asp287Glu) c.1035C>A (p.Asp345Glu) n.806C>A n.261C>A n.219C>A n.453C>A c.2211C>A (p.Asp737Glu) c.1920C>A (p.Asp640Glu) c.855C>A (p.Asp285Glu) c.984C>A (p.Asp328Glu) c.1986C>A (p.Asp662Glu) c.768C>A (p.Asp256Glu) c.2040C>A (p.Asp680Glu) c.942C>A (p.Asp314Glu) n.814C>A n.6227C>A c.2298C>A (p.Asp766Glu) c.2205C>A (p.Asp735Glu) c.2124C>A (p.Asp708Glu) c.2100C>A (p.Asp700Glu) c.2007C>A (p.Asp669Glu) c.1233C>A (p.Asp411Glu) c.1146C>A (p.Asp382Glu) c.1059C>A (p.Asp353Glu) c.771+4377C>A (n.771+4377C>A) n.866C>A | |
17 | g.46018655C= | CA2262104732 | MAPT | c.948C= (p.Asp316=) c.861C= (p.Asp287=) c.1035C= (p.Asp345=) n.806C= n.261C= n.219C= n.453C= c.2211C= (p.Asp737=) c.1920C= (p.Asp640=) c.855C= (p.Asp285=) c.984C= (p.Asp328=) c.1986C= (p.Asp662=) c.768C= (p.Asp256=) c.2040C= (p.Asp680=) c.942C= (p.Asp314=) n.814C= n.6227C= c.2298C= (p.Asp766=) c.2205C= (p.Asp735=) c.2124C= (p.Asp708=) c.2100C= (p.Asp700=) c.2007C= (p.Asp669=) c.1233C= (p.Asp411=) c.1146C= (p.Asp382=) c.1059C= (p.Asp353=) c.771+4377C= (n.771+4377C=) n.866C= | |
17 | g.46018655C>G | CA399983698 | MAPT | c.948C>G (p.Asp316Glu) c.861C>G (p.Asp287Glu) c.1035C>G (p.Asp345Glu) n.806C>G n.261C>G n.219C>G n.453C>G c.2211C>G (p.Asp737Glu) c.1920C>G (p.Asp640Glu) c.855C>G (p.Asp285Glu) c.984C>G (p.Asp328Glu) c.1986C>G (p.Asp662Glu) c.768C>G (p.Asp256Glu) c.2040C>G (p.Asp680Glu) c.942C>G (p.Asp314Glu) n.814C>G n.6227C>G c.2298C>G (p.Asp766Glu) c.2205C>G (p.Asp735Glu) c.2124C>G (p.Asp708Glu) c.2100C>G (p.Asp700Glu) c.2007C>G (p.Asp669Glu) c.1233C>G (p.Asp411Glu) c.1146C>G (p.Asp382Glu) c.1059C>G (p.Asp353Glu) c.771+4377C>G (n.771+4377C>G) n.866C>G | |
17 | g.46018655C>T | CA500371246 | MAPT | c.948C>T (p.Asp316=) c.861C>T (p.Asp287=) c.1035C>T (p.Asp345=) n.806C>T n.261C>T n.219C>T n.453C>T c.2211C>T (p.Asp737=) c.1920C>T (p.Asp640=) c.855C>T (p.Asp285=) c.984C>T (p.Asp328=) c.1986C>T (p.Asp662=) c.768C>T (p.Asp256=) c.2040C>T (p.Asp680=) c.942C>T (p.Asp314=) n.814C>T n.6227C>T c.2298C>T (p.Asp766=) c.2205C>T (p.Asp735=) c.2124C>T (p.Asp708=) c.2100C>T (p.Asp700=) c.2007C>T (p.Asp669=) c.1233C>T (p.Asp411=) c.1146C>T (p.Asp382=) c.1059C>T (p.Asp353=) c.771+4377C>T (n.771+4377C>T) n.866C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46018656T>A | CA399983699 | MAPT | c.949T>A (p.Phe317Ile) c.862T>A (p.Phe288Ile) c.1036T>A (p.Phe346Ile) n.807T>A n.262T>A n.220T>A n.454T>A c.2212T>A (p.Phe738Ile) c.1921T>A (p.Phe641Ile) c.856T>A (p.Phe286Ile) c.985T>A (p.Phe329Ile) c.1987T>A (p.Phe663Ile) c.769T>A (p.Phe257Ile) c.2041T>A (p.Phe681Ile) c.943T>A (p.Phe315Ile) n.815T>A n.6228T>A c.2299T>A (p.Phe767Ile) c.2206T>A (p.Phe736Ile) c.2125T>A (p.Phe709Ile) c.2101T>A (p.Phe701Ile) c.2008T>A (p.Phe670Ile) c.1234T>A (p.Phe412Ile) c.1147T>A (p.Phe383Ile) c.1060T>A (p.Phe354Ile) c.771+4378T>A (n.771+4378T>A) n.867T>A | |
17 | g.46018656T>C | CA399983700 | MAPT | c.949T>C (p.Phe317Leu) c.862T>C (p.Phe288Leu) c.1036T>C (p.Phe346Leu) n.807T>C n.262T>C n.220T>C n.454T>C c.2212T>C (p.Phe738Leu) c.1921T>C (p.Phe641Leu) c.856T>C (p.Phe286Leu) c.985T>C (p.Phe329Leu) c.1987T>C (p.Phe663Leu) c.769T>C (p.Phe257Leu) c.2041T>C (p.Phe681Leu) c.943T>C (p.Phe315Leu) n.815T>C n.6228T>C c.2299T>C (p.Phe767Leu) c.2206T>C (p.Phe736Leu) c.2125T>C (p.Phe709Leu) c.2101T>C (p.Phe701Leu) c.2008T>C (p.Phe670Leu) c.1234T>C (p.Phe412Leu) c.1147T>C (p.Phe383Leu) c.1060T>C (p.Phe354Leu) c.771+4378T>C (n.771+4378T>C) n.867T>C | |
17 | g.46018656T>G | CA399983701 | MAPT | c.949T>G (p.Phe317Val) c.862T>G (p.Phe288Val) c.1036T>G (p.Phe346Val) n.807T>G n.262T>G n.220T>G n.454T>G c.2212T>G (p.Phe738Val) c.1921T>G (p.Phe641Val) c.856T>G (p.Phe286Val) c.985T>G (p.Phe329Val) c.1987T>G (p.Phe663Val) c.769T>G (p.Phe257Val) c.2041T>G (p.Phe681Val) c.943T>G (p.Phe315Val) n.815T>G n.6228T>G c.2299T>G (p.Phe767Val) c.2206T>G (p.Phe736Val) c.2125T>G (p.Phe709Val) c.2101T>G (p.Phe701Val) c.2008T>G (p.Phe670Val) c.1234T>G (p.Phe412Val) c.1147T>G (p.Phe383Val) c.1060T>G (p.Phe354Val) c.771+4378T>G (n.771+4378T>G) n.867T>G | |
17 | g.46018657T>A | CA399983702 | MAPT | c.950T>A (p.Phe317Tyr) c.863T>A (p.Phe288Tyr) c.1037T>A (p.Phe346Tyr) n.808T>A n.263T>A n.221T>A n.455T>A c.2213T>A (p.Phe738Tyr) c.1922T>A (p.Phe641Tyr) c.857T>A (p.Phe286Tyr) c.986T>A (p.Phe329Tyr) c.1988T>A (p.Phe663Tyr) c.770T>A (p.Phe257Tyr) c.2042T>A (p.Phe681Tyr) c.944T>A (p.Phe315Tyr) n.816T>A n.6229T>A c.2300T>A (p.Phe767Tyr) c.2207T>A (p.Phe736Tyr) c.2126T>A (p.Phe709Tyr) c.2102T>A (p.Phe701Tyr) c.2009T>A (p.Phe670Tyr) c.1235T>A (p.Phe412Tyr) c.1148T>A (p.Phe383Tyr) c.1061T>A (p.Phe354Tyr) c.771+4379T>A (n.771+4379T>A) n.868T>A | |
17 | g.46018657T>C | CA399983703 | MAPT | c.950T>C (p.Phe317Ser) c.863T>C (p.Phe288Ser) c.1037T>C (p.Phe346Ser) n.808T>C n.263T>C n.221T>C n.455T>C c.2213T>C (p.Phe738Ser) c.1922T>C (p.Phe641Ser) c.857T>C (p.Phe286Ser) c.986T>C (p.Phe329Ser) c.1988T>C (p.Phe663Ser) c.770T>C (p.Phe257Ser) c.2042T>C (p.Phe681Ser) c.944T>C (p.Phe315Ser) n.816T>C n.6229T>C c.2300T>C (p.Phe767Ser) c.2207T>C (p.Phe736Ser) c.2126T>C (p.Phe709Ser) c.2102T>C (p.Phe701Ser) c.2009T>C (p.Phe670Ser) c.1235T>C (p.Phe412Ser) c.1148T>C (p.Phe383Ser) c.1061T>C (p.Phe354Ser) c.771+4379T>C (n.771+4379T>C) n.868T>C | |
17 | g.46018657T>G | CA399983704 | MAPT | c.950T>G (p.Phe317Cys) c.863T>G (p.Phe288Cys) c.1037T>G (p.Phe346Cys) n.808T>G n.263T>G n.221T>G n.455T>G c.2213T>G (p.Phe738Cys) c.1922T>G (p.Phe641Cys) c.857T>G (p.Phe286Cys) c.986T>G (p.Phe329Cys) c.1988T>G (p.Phe663Cys) c.770T>G (p.Phe257Cys) c.2042T>G (p.Phe681Cys) c.944T>G (p.Phe315Cys) n.816T>G n.6229T>G c.2300T>G (p.Phe767Cys) c.2207T>G (p.Phe736Cys) c.2126T>G (p.Phe709Cys) c.2102T>G (p.Phe701Cys) c.2009T>G (p.Phe670Cys) c.1235T>G (p.Phe412Cys) c.1148T>G (p.Phe383Cys) c.1061T>G (p.Phe354Cys) c.771+4379T>G (n.771+4379T>G) n.868T>G | |
17 | g.46018658C>A | CA399983705 | MAPT | c.951C>A (p.Phe317Leu) c.864C>A (p.Phe288Leu) c.1038C>A (p.Phe346Leu) n.809C>A n.264C>A n.222C>A n.456C>A c.2214C>A (p.Phe738Leu) c.1923C>A (p.Phe641Leu) c.858C>A (p.Phe286Leu) c.987C>A (p.Phe329Leu) c.1989C>A (p.Phe663Leu) c.771C>A (p.Phe257Leu) c.2043C>A (p.Phe681Leu) c.945C>A (p.Phe315Leu) n.817C>A n.6230C>A c.2301C>A (p.Phe767Leu) c.2208C>A (p.Phe736Leu) c.2127C>A (p.Phe709Leu) c.2103C>A (p.Phe701Leu) c.2010C>A (p.Phe670Leu) c.1236C>A (p.Phe412Leu) c.1149C>A (p.Phe383Leu) c.1062C>A (p.Phe354Leu) c.771+4380C>A (n.771+4380C>A) n.869C>A | |
17 | g.46018658C>G | CA399983706 | MAPT | c.951C>G (p.Phe317Leu) c.864C>G (p.Phe288Leu) c.1038C>G (p.Phe346Leu) n.809C>G n.264C>G n.222C>G n.456C>G c.2214C>G (p.Phe738Leu) c.1923C>G (p.Phe641Leu) c.858C>G (p.Phe286Leu) c.987C>G (p.Phe329Leu) c.1989C>G (p.Phe663Leu) c.771C>G (p.Phe257Leu) c.2043C>G (p.Phe681Leu) c.945C>G (p.Phe315Leu) n.817C>G n.6230C>G c.2301C>G (p.Phe767Leu) c.2208C>G (p.Phe736Leu) c.2127C>G (p.Phe709Leu) c.2103C>G (p.Phe701Leu) c.2010C>G (p.Phe670Leu) c.1236C>G (p.Phe412Leu) c.1149C>G (p.Phe383Leu) c.1062C>G (p.Phe354Leu) c.771+4380C>G (n.771+4380C>G) n.869C>G | |
17 | g.46018658C>T | CA500371247 | MAPT | c.951C>T (p.Phe317=) c.864C>T (p.Phe288=) c.1038C>T (p.Phe346=) n.809C>T n.264C>T n.222C>T n.456C>T c.2214C>T (p.Phe738=) c.1923C>T (p.Phe641=) c.858C>T (p.Phe286=) c.987C>T (p.Phe329=) c.1989C>T (p.Phe663=) c.771C>T (p.Phe257=) c.2043C>T (p.Phe681=) c.945C>T (p.Phe315=) n.817C>T n.6230C>T c.2301C>T (p.Phe767=) c.2208C>T (p.Phe736=) c.2127C>T (p.Phe709=) c.2103C>T (p.Phe701=) c.2010C>T (p.Phe670=) c.1236C>T (p.Phe412=) c.1149C>T (p.Phe383=) c.1062C>T (p.Phe354=) c.771+4380C>T (n.771+4380C>T) n.869C>T | |
17 | g.46018659A>C | CA399983707 | MAPT | c.952A>C (p.Lys318Gln) c.865A>C (p.Lys289Gln) c.1039A>C (p.Lys347Gln) n.810A>C n.265A>C n.223A>C n.457A>C c.2215A>C (p.Lys739Gln) c.1924A>C (p.Lys642Gln) c.859A>C (p.Lys287Gln) c.988A>C (p.Lys330Gln) c.1990A>C (p.Lys664Gln) c.772A>C (p.Lys258Gln) c.2044A>C (p.Lys682Gln) c.946A>C (p.Lys316Gln) n.818A>C n.6231A>C c.2302A>C (p.Lys768Gln) c.2209A>C (p.Lys737Gln) c.2128A>C (p.Lys710Gln) c.2104A>C (p.Lys702Gln) c.2011A>C (p.Lys671Gln) c.1237A>C (p.Lys413Gln) c.1150A>C (p.Lys384Gln) c.1063A>C (p.Lys355Gln) c.771+4381A>C (n.771+4381A>C) n.870A>C | |
17 | g.46018659A>G | CA399983708 | MAPT | c.952A>G (p.Lys318Glu) c.865A>G (p.Lys289Glu) c.1039A>G (p.Lys347Glu) n.810A>G n.265A>G n.223A>G n.457A>G c.2215A>G (p.Lys739Glu) c.1924A>G (p.Lys642Glu) c.859A>G (p.Lys287Glu) c.988A>G (p.Lys330Glu) c.1990A>G (p.Lys664Glu) c.772A>G (p.Lys258Glu) c.2044A>G (p.Lys682Glu) c.946A>G (p.Lys316Glu) n.818A>G n.6231A>G c.2302A>G (p.Lys768Glu) c.2209A>G (p.Lys737Glu) c.2128A>G (p.Lys710Glu) c.2104A>G (p.Lys702Glu) c.2011A>G (p.Lys671Glu) c.1237A>G (p.Lys413Glu) c.1150A>G (p.Lys384Glu) c.1063A>G (p.Lys355Glu) c.771+4381A>G (n.771+4381A>G) n.870A>G | |
17 | g.46018659A>T | CA399983709 | MAPT | c.952A>T (p.Lys318Ter) c.865A>T (p.Lys289Ter) c.1039A>T (p.Lys347Ter) n.810A>T n.265A>T n.223A>T n.457A>T c.2215A>T (p.Lys739Ter) c.1924A>T (p.Lys642Ter) c.859A>T (p.Lys287Ter) c.988A>T (p.Lys330Ter) c.1990A>T (p.Lys664Ter) c.772A>T (p.Lys258Ter) c.2044A>T (p.Lys682Ter) c.946A>T (p.Lys316Ter) n.818A>T n.6231A>T c.2302A>T (p.Lys768Ter) c.2209A>T (p.Lys737Ter) c.2128A>T (p.Lys710Ter) c.2104A>T (p.Lys702Ter) c.2011A>T (p.Lys671Ter) c.1237A>T (p.Lys413Ter) c.1150A>T (p.Lys384Ter) c.1063A>T (p.Lys355Ter) c.771+4381A>T (n.771+4381A>T) n.870A>T | |
17 | g.46018660A= | CA2262104734 | MAPT | c.953A= (p.Lys318=) c.866A= (p.Lys289=) c.1040A= (p.Lys347=) n.811A= n.266A= n.224A= n.458A= c.2216A= (p.Lys739=) c.1925A= (p.Lys642=) c.860A= (p.Lys287=) c.989A= (p.Lys330=) c.1991A= (p.Lys664=) c.773A= (p.Lys258=) c.2045A= (p.Lys682=) c.947A= (p.Lys316=) n.819A= n.6232A= c.2303A= (p.Lys768=) c.2210A= (p.Lys737=) c.2129A= (p.Lys710=) c.2105A= (p.Lys702=) c.2012A= (p.Lys671=) c.1238A= (p.Lys413=) c.1151A= (p.Lys384=) c.1064A= (p.Lys355=) c.771+4382A= (n.771+4382A=) n.871A= | |
17 | g.46018660A>C | CA399983712 | MAPT | c.953A>C (p.Lys318Thr) c.866A>C (p.Lys289Thr) c.1040A>C (p.Lys347Thr) n.811A>C n.266A>C n.224A>C n.458A>C c.2216A>C (p.Lys739Thr) c.1925A>C (p.Lys642Thr) c.860A>C (p.Lys287Thr) c.989A>C (p.Lys330Thr) c.1991A>C (p.Lys664Thr) c.773A>C (p.Lys258Thr) c.2045A>C (p.Lys682Thr) c.947A>C (p.Lys316Thr) n.819A>C n.6232A>C c.2303A>C (p.Lys768Thr) c.2210A>C (p.Lys737Thr) c.2129A>C (p.Lys710Thr) c.2105A>C (p.Lys702Thr) c.2012A>C (p.Lys671Thr) c.1238A>C (p.Lys413Thr) c.1151A>C (p.Lys384Thr) c.1064A>C (p.Lys355Thr) c.771+4382A>C (n.771+4382A>C) n.871A>C | |
17 | g.46018660A>G | CA399983711 | MAPT | c.953A>G (p.Lys318Arg) c.866A>G (p.Lys289Arg) c.1040A>G (p.Lys347Arg) n.811A>G n.266A>G n.224A>G n.458A>G c.2216A>G (p.Lys739Arg) c.1925A>G (p.Lys642Arg) c.860A>G (p.Lys287Arg) c.989A>G (p.Lys330Arg) c.1991A>G (p.Lys664Arg) c.773A>G (p.Lys258Arg) c.2045A>G (p.Lys682Arg) c.947A>G (p.Lys316Arg) n.819A>G n.6232A>G c.2303A>G (p.Lys768Arg) c.2210A>G (p.Lys737Arg) c.2129A>G (p.Lys710Arg) c.2105A>G (p.Lys702Arg) c.2012A>G (p.Lys671Arg) c.1238A>G (p.Lys413Arg) c.1151A>G (p.Lys384Arg) c.1064A>G (p.Lys355Arg) c.771+4382A>G (n.771+4382A>G) n.871A>G | dbSNP gnomAD v4 |
17 | g.46018660A>T | CA399983710 | MAPT | c.953A>T (p.Lys318Met) c.866A>T (p.Lys289Met) c.1040A>T (p.Lys347Met) n.811A>T n.266A>T n.224A>T n.458A>T c.2216A>T (p.Lys739Met) c.1925A>T (p.Lys642Met) c.860A>T (p.Lys287Met) c.989A>T (p.Lys330Met) c.1991A>T (p.Lys664Met) c.773A>T (p.Lys258Met) c.2045A>T (p.Lys682Met) c.947A>T (p.Lys316Met) n.819A>T n.6232A>T c.2303A>T (p.Lys768Met) c.2210A>T (p.Lys737Met) c.2129A>T (p.Lys710Met) c.2105A>T (p.Lys702Met) c.2012A>T (p.Lys671Met) c.1238A>T (p.Lys413Met) c.1151A>T (p.Lys384Met) c.1064A>T (p.Lys355Met) c.771+4382A>T (n.771+4382A>T) n.871A>T | |
17 | g.46018660_46018679delinsAGGACAGAGTCCAGTCGAAG | CA2262104733 | MAPT | c.953_972delinsAGGACAGAGTCCAGTCGAAG (p.Lys318=) c.866_885delinsAGGACAGAGTCCAGTCGAAG (p.Lys289=) c.1040_1059delinsAGGACAGAGTCCAGTCGAAG (p.Lys347=) n.811_830delinsAGGACAGAGTCCAGTCGAAG n.266_285delinsAGGACAGAGTCCAGTCGAAG n.224_243delinsAGGACAGAGTCCAGTCGAAG n.458_477delinsAGGACAGAGTCCAGTCGAAG c.2216_2235delinsAGGACAGAGTCCAGTCGAAG (p.Lys739=) c.1925_1944delinsAGGACAGAGTCCAGTCGAAG (p.Lys642=) c.860_879delinsAGGACAGAGTCCAGTCGAAG (p.Lys287=) c.989_1008delinsAGGACAGAGTCCAGTCGAAG (p.Lys330=) c.1991_2010delinsAGGACAGAGTCCAGTCGAAG (p.Lys664=) c.773_792delinsAGGACAGAGTCCAGTCGAAG (p.Lys258=) c.2045_2064delinsAGGACAGAGTCCAGTCGAAG (p.Lys682=) c.947_966delinsAGGACAGAGTCCAGTCGAAG (p.Lys316=) n.819_838delinsAGGACAGAGTCCAGTCGAAG n.6232_6251delinsAGGACAGAGTCCAGTCGAAG c.2303_2322delinsAGGACAGAGTCCAGTCGAAG (p.Lys768=) c.2210_2229delinsAGGACAGAGTCCAGTCGAAG (p.Lys737=) c.2129_2148delinsAGGACAGAGTCCAGTCGAAG (p.Lys710=) c.2105_2124delinsAGGACAGAGTCCAGTCGAAG (p.Lys702=) c.2012_2031delinsAGGACAGAGTCCAGTCGAAG (p.Lys671=) c.1238_1257delinsAGGACAGAGTCCAGTCGAAG (p.Lys413=) c.1151_1170delinsAGGACAGAGTCCAGTCGAAG (p.Lys384=) c.1064_1083delinsAGGACAGAGTCCAGTCGAAG (p.Lys355=) c.771+4382_771+4401delinsAGGACAGAGTCCAGTCGAAG (n.771+4382_771+4401delinsAGGACAGAGTCCAGTCGAAG) n.871_890delinsAGGACAGAGTCCAGTCGAAG | |
17 | g.46018661G>A | CA500371248 | MAPT | c.954G>A (p.Lys318=) c.867G>A (p.Lys289=) c.1041G>A (p.Lys347=) n.812G>A n.267G>A n.225G>A n.459G>A c.2217G>A (p.Lys739=) c.1926G>A (p.Lys642=) c.861G>A (p.Lys287=) c.990G>A (p.Lys330=) c.1992G>A (p.Lys664=) c.774G>A (p.Lys258=) c.2046G>A (p.Lys682=) c.948G>A (p.Lys316=) n.820G>A n.6233G>A c.2304G>A (p.Lys768=) c.2211G>A (p.Lys737=) c.2130G>A (p.Lys710=) c.2106G>A (p.Lys702=) c.2013G>A (p.Lys671=) c.1239G>A (p.Lys413=) c.1152G>A (p.Lys384=) c.1065G>A (p.Lys355=) c.771+4383G>A (n.771+4383G>A) n.872G>A | |
17 | g.46018661G>C | CA399983713 | MAPT | c.954G>C (p.Lys318Asn) c.867G>C (p.Lys289Asn) c.1041G>C (p.Lys347Asn) n.812G>C n.267G>C n.225G>C n.459G>C c.2217G>C (p.Lys739Asn) c.1926G>C (p.Lys642Asn) c.861G>C (p.Lys287Asn) c.990G>C (p.Lys330Asn) c.1992G>C (p.Lys664Asn) c.774G>C (p.Lys258Asn) c.2046G>C (p.Lys682Asn) c.948G>C (p.Lys316Asn) n.820G>C n.6233G>C c.2304G>C (p.Lys768Asn) c.2211G>C (p.Lys737Asn) c.2130G>C (p.Lys710Asn) c.2106G>C (p.Lys702Asn) c.2013G>C (p.Lys671Asn) c.1239G>C (p.Lys413Asn) c.1152G>C (p.Lys384Asn) c.1065G>C (p.Lys355Asn) c.771+4383G>C (n.771+4383G>C) n.872G>C | |
17 | g.46018661G>T | CA399983714 | MAPT | c.954G>T (p.Lys318Asn) c.867G>T (p.Lys289Asn) c.1041G>T (p.Lys347Asn) n.812G>T n.267G>T n.225G>T n.459G>T c.2217G>T (p.Lys739Asn) c.1926G>T (p.Lys642Asn) c.861G>T (p.Lys287Asn) c.990G>T (p.Lys330Asn) c.1992G>T (p.Lys664Asn) c.774G>T (p.Lys258Asn) c.2046G>T (p.Lys682Asn) c.948G>T (p.Lys316Asn) n.820G>T n.6233G>T c.2304G>T (p.Lys768Asn) c.2211G>T (p.Lys737Asn) c.2130G>T (p.Lys710Asn) c.2106G>T (p.Lys702Asn) c.2013G>T (p.Lys671Asn) c.1239G>T (p.Lys413Asn) c.1152G>T (p.Lys384Asn) c.1065G>T (p.Lys355Asn) c.771+4383G>T (n.771+4383G>T) n.872G>T | |
17 | g.46018661_46018679del | CA8618224 | MAPT | c.954_972del (p.Asp319LeufsTer23) c.867_885del (p.Asp290LeufsTer23) c.1041_1059del (p.Asp348LeufsTer23) n.812_830del n.267_285del n.225_243del n.459_477del c.2217_2235del (p.Asp740LeufsTer23) c.1926_1944del (p.Asp643LeufsTer23) c.861_879del (p.Asp288LeufsTer23) c.990_1008del (p.Asp331LeufsTer23) c.1992_2010del (p.Asp665LeufsTer23) c.774_792del (p.Asp259LeufsTer23) c.2046_2064del (p.Asp683LeufsTer23) c.948_966del (p.Asp317LeufsTer23) n.820_838del n.6233_6251del c.2304_2322del (p.Asp769LeufsTer23) c.2211_2229del (p.Asp738LeufsTer23) c.2130_2148del (p.Asp711LeufsTer23) c.2106_2124del (p.Asp703LeufsTer23) c.2013_2031del (p.Asp672LeufsTer23) c.1239_1257del (p.Asp414LeufsTer23) c.1152_1170del (p.Asp385LeufsTer23) c.1065_1083del (p.Asp356LeufsTer23) c.771+4383_771+4401del (n.771+4383_771+4401del) n.872_890del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46018662G>A | CA399983715 | MAPT | c.955G>A (p.Asp319Asn) c.868G>A (p.Asp290Asn) c.1042G>A (p.Asp348Asn) n.813G>A n.268G>A n.226G>A n.460G>A c.2218G>A (p.Asp740Asn) c.1927G>A (p.Asp643Asn) c.862G>A (p.Asp288Asn) c.991G>A (p.Asp331Asn) c.1993G>A (p.Asp665Asn) c.775G>A (p.Asp259Asn) c.2047G>A (p.Asp683Asn) c.949G>A (p.Asp317Asn) n.821G>A n.6234G>A c.2305G>A (p.Asp769Asn) c.2212G>A (p.Asp738Asn) c.2131G>A (p.Asp711Asn) c.2107G>A (p.Asp703Asn) c.2014G>A (p.Asp672Asn) c.1240G>A (p.Asp414Asn) c.1153G>A (p.Asp385Asn) c.1066G>A (p.Asp356Asn) c.771+4384G>A (n.771+4384G>A) n.873G>A | |
17 | g.46018662G>C | CA399983716 | MAPT | c.955G>C (p.Asp319His) c.868G>C (p.Asp290His) c.1042G>C (p.Asp348His) n.813G>C n.268G>C n.226G>C n.460G>C c.2218G>C (p.Asp740His) c.1927G>C (p.Asp643His) c.862G>C (p.Asp288His) c.991G>C (p.Asp331His) c.1993G>C (p.Asp665His) c.775G>C (p.Asp259His) c.2047G>C (p.Asp683His) c.949G>C (p.Asp317His) n.821G>C n.6234G>C c.2305G>C (p.Asp769His) c.2212G>C (p.Asp738His) c.2131G>C (p.Asp711His) c.2107G>C (p.Asp703His) c.2014G>C (p.Asp672His) c.1240G>C (p.Asp414His) c.1153G>C (p.Asp385His) c.1066G>C (p.Asp356His) c.771+4384G>C (n.771+4384G>C) n.873G>C | |
17 | g.46018662G>T | CA399983717 | MAPT | c.955G>T (p.Asp319Tyr) c.868G>T (p.Asp290Tyr) c.1042G>T (p.Asp348Tyr) n.813G>T n.268G>T n.226G>T n.460G>T c.2218G>T (p.Asp740Tyr) c.1927G>T (p.Asp643Tyr) c.862G>T (p.Asp288Tyr) c.991G>T (p.Asp331Tyr) c.1993G>T (p.Asp665Tyr) c.775G>T (p.Asp259Tyr) c.2047G>T (p.Asp683Tyr) c.949G>T (p.Asp317Tyr) n.821G>T n.6234G>T c.2305G>T (p.Asp769Tyr) c.2212G>T (p.Asp738Tyr) c.2131G>T (p.Asp711Tyr) c.2107G>T (p.Asp703Tyr) c.2014G>T (p.Asp672Tyr) c.1240G>T (p.Asp414Tyr) c.1153G>T (p.Asp385Tyr) c.1066G>T (p.Asp356Tyr) c.771+4384G>T (n.771+4384G>T) n.873G>T | |
17 | g.46018663A>C | CA399983718 | MAPT | c.956A>C (p.Asp319Ala) c.869A>C (p.Asp290Ala) c.1043A>C (p.Asp348Ala) n.814A>C n.269A>C n.227A>C n.461A>C c.2219A>C (p.Asp740Ala) c.1928A>C (p.Asp643Ala) c.863A>C (p.Asp288Ala) c.992A>C (p.Asp331Ala) c.1994A>C (p.Asp665Ala) c.776A>C (p.Asp259Ala) c.2048A>C (p.Asp683Ala) c.950A>C (p.Asp317Ala) n.822A>C n.6235A>C c.2306A>C (p.Asp769Ala) c.2213A>C (p.Asp738Ala) c.2132A>C (p.Asp711Ala) c.2108A>C (p.Asp703Ala) c.2015A>C (p.Asp672Ala) c.1241A>C (p.Asp414Ala) c.1154A>C (p.Asp385Ala) c.1067A>C (p.Asp356Ala) c.771+4385A>C (n.771+4385A>C) n.874A>C | |
17 | g.46018663A>G | CA399983719 | MAPT | c.956A>G (p.Asp319Gly) c.869A>G (p.Asp290Gly) c.1043A>G (p.Asp348Gly) n.814A>G n.269A>G n.227A>G n.461A>G c.2219A>G (p.Asp740Gly) c.1928A>G (p.Asp643Gly) c.863A>G (p.Asp288Gly) c.992A>G (p.Asp331Gly) c.1994A>G (p.Asp665Gly) c.776A>G (p.Asp259Gly) c.2048A>G (p.Asp683Gly) c.950A>G (p.Asp317Gly) n.822A>G n.6235A>G c.2306A>G (p.Asp769Gly) c.2213A>G (p.Asp738Gly) c.2132A>G (p.Asp711Gly) c.2108A>G (p.Asp703Gly) c.2015A>G (p.Asp672Gly) c.1241A>G (p.Asp414Gly) c.1154A>G (p.Asp385Gly) c.1067A>G (p.Asp356Gly) c.771+4385A>G (n.771+4385A>G) n.874A>G | |
17 | g.46018663A>T | CA399983720 | MAPT | c.956A>T (p.Asp319Val) c.869A>T (p.Asp290Val) c.1043A>T (p.Asp348Val) n.814A>T n.269A>T n.227A>T n.461A>T c.2219A>T (p.Asp740Val) c.1928A>T (p.Asp643Val) c.863A>T (p.Asp288Val) c.992A>T (p.Asp331Val) c.1994A>T (p.Asp665Val) c.776A>T (p.Asp259Val) c.2048A>T (p.Asp683Val) c.950A>T (p.Asp317Val) n.822A>T n.6235A>T c.2306A>T (p.Asp769Val) c.2213A>T (p.Asp738Val) c.2132A>T (p.Asp711Val) c.2108A>T (p.Asp703Val) c.2015A>T (p.Asp672Val) c.1241A>T (p.Asp414Val) c.1154A>T (p.Asp385Val) c.1067A>T (p.Asp356Val) c.771+4385A>T (n.771+4385A>T) n.874A>T | |
17 | g.46018664C>A | CA399983721 | MAPT | c.957C>A (p.Asp319Glu) c.870C>A (p.Asp290Glu) c.1044C>A (p.Asp348Glu) n.815C>A n.270C>A n.228C>A n.462C>A c.2220C>A (p.Asp740Glu) c.1929C>A (p.Asp643Glu) c.864C>A (p.Asp288Glu) c.993C>A (p.Asp331Glu) c.1995C>A (p.Asp665Glu) c.777C>A (p.Asp259Glu) c.2049C>A (p.Asp683Glu) c.951C>A (p.Asp317Glu) n.823C>A n.6236C>A c.2307C>A (p.Asp769Glu) c.2214C>A (p.Asp738Glu) c.2133C>A (p.Asp711Glu) c.2109C>A (p.Asp703Glu) c.2016C>A (p.Asp672Glu) c.1242C>A (p.Asp414Glu) c.1155C>A (p.Asp385Glu) c.1068C>A (p.Asp356Glu) c.771+4386C>A (n.771+4386C>A) n.875C>A | |
17 | g.46018664C>G | CA399983722 | MAPT | c.957C>G (p.Asp319Glu) c.870C>G (p.Asp290Glu) c.1044C>G (p.Asp348Glu) n.815C>G n.270C>G n.228C>G n.462C>G c.2220C>G (p.Asp740Glu) c.1929C>G (p.Asp643Glu) c.864C>G (p.Asp288Glu) c.993C>G (p.Asp331Glu) c.1995C>G (p.Asp665Glu) c.777C>G (p.Asp259Glu) c.2049C>G (p.Asp683Glu) c.951C>G (p.Asp317Glu) n.823C>G n.6236C>G c.2307C>G (p.Asp769Glu) c.2214C>G (p.Asp738Glu) c.2133C>G (p.Asp711Glu) c.2109C>G (p.Asp703Glu) c.2016C>G (p.Asp672Glu) c.1242C>G (p.Asp414Glu) c.1155C>G (p.Asp385Glu) c.1068C>G (p.Asp356Glu) c.771+4386C>G (n.771+4386C>G) n.875C>G | |
17 | g.46018664C>T | CA500371249 | MAPT | c.957C>T (p.Asp319=) c.870C>T (p.Asp290=) c.1044C>T (p.Asp348=) n.815C>T n.270C>T n.228C>T n.462C>T c.2220C>T (p.Asp740=) c.1929C>T (p.Asp643=) c.864C>T (p.Asp288=) c.993C>T (p.Asp331=) c.1995C>T (p.Asp665=) c.777C>T (p.Asp259=) c.2049C>T (p.Asp683=) c.951C>T (p.Asp317=) n.823C>T n.6236C>T c.2307C>T (p.Asp769=) c.2214C>T (p.Asp738=) c.2133C>T (p.Asp711=) c.2109C>T (p.Asp703=) c.2016C>T (p.Asp672=) c.1242C>T (p.Asp414=) c.1155C>T (p.Asp385=) c.1068C>T (p.Asp356=) c.771+4386C>T (n.771+4386C>T) n.875C>T | |
17 | g.46018665A>C | CA500371250 | MAPT | c.958A>C (p.Arg320=) c.871A>C (p.Arg291=) c.1045A>C (p.Arg349=) n.816A>C n.271A>C n.229A>C n.463A>C c.2221A>C (p.Arg741=) c.1930A>C (p.Arg644=) c.865A>C (p.Arg289=) c.994A>C (p.Arg332=) c.1996A>C (p.Arg666=) c.778A>C (p.Arg260=) c.2050A>C (p.Arg684=) c.952A>C (p.Arg318=) n.824A>C n.6237A>C c.2308A>C (p.Arg770=) c.2215A>C (p.Arg739=) c.2134A>C (p.Arg712=) c.2110A>C (p.Arg704=) c.2017A>C (p.Arg673=) c.1243A>C (p.Arg415=) c.1156A>C (p.Arg386=) c.1069A>C (p.Arg357=) c.771+4387A>C (n.771+4387A>C) n.876A>C | |
17 | g.46018665A>G | CA399983723 | MAPT | c.958A>G (p.Arg320Gly) c.871A>G (p.Arg291Gly) c.1045A>G (p.Arg349Gly) n.816A>G n.271A>G n.229A>G n.463A>G c.2221A>G (p.Arg741Gly) c.1930A>G (p.Arg644Gly) c.865A>G (p.Arg289Gly) c.994A>G (p.Arg332Gly) c.1996A>G (p.Arg666Gly) c.778A>G (p.Arg260Gly) c.2050A>G (p.Arg684Gly) c.952A>G (p.Arg318Gly) n.824A>G n.6237A>G c.2308A>G (p.Arg770Gly) c.2215A>G (p.Arg739Gly) c.2134A>G (p.Arg712Gly) c.2110A>G (p.Arg704Gly) c.2017A>G (p.Arg673Gly) c.1243A>G (p.Arg415Gly) c.1156A>G (p.Arg386Gly) c.1069A>G (p.Arg357Gly) c.771+4387A>G (n.771+4387A>G) n.876A>G | |
17 | g.46018665A>T | CA399983724 | MAPT | c.958A>T (p.Arg320Ter) c.871A>T (p.Arg291Ter) c.1045A>T (p.Arg349Ter) n.816A>T n.271A>T n.229A>T n.463A>T c.2221A>T (p.Arg741Ter) c.1930A>T (p.Arg644Ter) c.865A>T (p.Arg289Ter) c.994A>T (p.Arg332Ter) c.1996A>T (p.Arg666Ter) c.778A>T (p.Arg260Ter) c.2050A>T (p.Arg684Ter) c.952A>T (p.Arg318Ter) n.824A>T n.6237A>T c.2308A>T (p.Arg770Ter) c.2215A>T (p.Arg739Ter) c.2134A>T (p.Arg712Ter) c.2110A>T (p.Arg704Ter) c.2017A>T (p.Arg673Ter) c.1243A>T (p.Arg415Ter) c.1156A>T (p.Arg386Ter) c.1069A>T (p.Arg357Ter) c.771+4387A>T (n.771+4387A>T) n.876A>T | |
17 | g.46018666G>A | CA399983726 | MAPT | c.959G>A (p.Arg320Lys) c.872G>A (p.Arg291Lys) c.1046G>A (p.Arg349Lys) n.817G>A n.272G>A n.230G>A n.464G>A c.2222G>A (p.Arg741Lys) c.1931G>A (p.Arg644Lys) c.866G>A (p.Arg289Lys) c.995G>A (p.Arg332Lys) c.1997G>A (p.Arg666Lys) c.779G>A (p.Arg260Lys) c.2051G>A (p.Arg684Lys) c.953G>A (p.Arg318Lys) n.825G>A n.6238G>A c.2309G>A (p.Arg770Lys) c.2216G>A (p.Arg739Lys) c.2135G>A (p.Arg712Lys) c.2111G>A (p.Arg704Lys) c.2018G>A (p.Arg673Lys) c.1244G>A (p.Arg415Lys) c.1157G>A (p.Arg386Lys) c.1070G>A (p.Arg357Lys) c.771+4388G>A (n.771+4388G>A) n.877G>A | |
17 | g.46018666G>C | CA399983727 | MAPT | c.959G>C (p.Arg320Thr) c.872G>C (p.Arg291Thr) c.1046G>C (p.Arg349Thr) n.817G>C n.272G>C n.230G>C n.464G>C c.2222G>C (p.Arg741Thr) c.1931G>C (p.Arg644Thr) c.866G>C (p.Arg289Thr) c.995G>C (p.Arg332Thr) c.1997G>C (p.Arg666Thr) c.779G>C (p.Arg260Thr) c.2051G>C (p.Arg684Thr) c.953G>C (p.Arg318Thr) n.825G>C n.6238G>C c.2309G>C (p.Arg770Thr) c.2216G>C (p.Arg739Thr) c.2135G>C (p.Arg712Thr) c.2111G>C (p.Arg704Thr) c.2018G>C (p.Arg673Thr) c.1244G>C (p.Arg415Thr) c.1157G>C (p.Arg386Thr) c.1070G>C (p.Arg357Thr) c.771+4388G>C (n.771+4388G>C) n.877G>C | |
17 | g.46018666G>T | CA399983725 | MAPT | c.959G>T (p.Arg320Ile) c.872G>T (p.Arg291Ile) c.1046G>T (p.Arg349Ile) n.817G>T n.272G>T n.230G>T n.464G>T c.2222G>T (p.Arg741Ile) c.1931G>T (p.Arg644Ile) c.866G>T (p.Arg289Ile) c.995G>T (p.Arg332Ile) c.1997G>T (p.Arg666Ile) c.779G>T (p.Arg260Ile) c.2051G>T (p.Arg684Ile) c.953G>T (p.Arg318Ile) n.825G>T n.6238G>T c.2309G>T (p.Arg770Ile) c.2216G>T (p.Arg739Ile) c.2135G>T (p.Arg712Ile) c.2111G>T (p.Arg704Ile) c.2018G>T (p.Arg673Ile) c.1244G>T (p.Arg415Ile) c.1157G>T (p.Arg386Ile) c.1070G>T (p.Arg357Ile) c.771+4388G>T (n.771+4388G>T) n.877G>T | |
17 | g.46018667A>C | CA399983728 | MAPT | c.960A>C (p.Arg320Ser) c.873A>C (p.Arg291Ser) c.1047A>C (p.Arg349Ser) n.818A>C n.273A>C n.231A>C n.465A>C c.2223A>C (p.Arg741Ser) c.1932A>C (p.Arg644Ser) c.867A>C (p.Arg289Ser) c.996A>C (p.Arg332Ser) c.1998A>C (p.Arg666Ser) c.780A>C (p.Arg260Ser) c.2052A>C (p.Arg684Ser) c.954A>C (p.Arg318Ser) n.826A>C n.6239A>C c.2310A>C (p.Arg770Ser) c.2217A>C (p.Arg739Ser) c.2136A>C (p.Arg712Ser) c.2112A>C (p.Arg704Ser) c.2019A>C (p.Arg673Ser) c.1245A>C (p.Arg415Ser) c.1158A>C (p.Arg386Ser) c.1071A>C (p.Arg357Ser) c.771+4389A>C (n.771+4389A>C) n.878A>C | |
17 | g.46018667A>G | CA500371251 | MAPT | c.960A>G (p.Arg320=) c.873A>G (p.Arg291=) c.1047A>G (p.Arg349=) n.818A>G n.273A>G n.231A>G n.465A>G c.2223A>G (p.Arg741=) c.1932A>G (p.Arg644=) c.867A>G (p.Arg289=) c.996A>G (p.Arg332=) c.1998A>G (p.Arg666=) c.780A>G (p.Arg260=) c.2052A>G (p.Arg684=) c.954A>G (p.Arg318=) n.826A>G n.6239A>G c.2310A>G (p.Arg770=) c.2217A>G (p.Arg739=) c.2136A>G (p.Arg712=) c.2112A>G (p.Arg704=) c.2019A>G (p.Arg673=) c.1245A>G (p.Arg415=) c.1158A>G (p.Arg386=) c.1071A>G (p.Arg357=) c.771+4389A>G (n.771+4389A>G) n.878A>G | |
17 | g.46018667A>T | CA399983729 | MAPT | c.960A>T (p.Arg320Ser) c.873A>T (p.Arg291Ser) c.1047A>T (p.Arg349Ser) n.818A>T n.273A>T n.231A>T n.465A>T c.2223A>T (p.Arg741Ser) c.1932A>T (p.Arg644Ser) c.867A>T (p.Arg289Ser) c.996A>T (p.Arg332Ser) c.1998A>T (p.Arg666Ser) c.780A>T (p.Arg260Ser) c.2052A>T (p.Arg684Ser) c.954A>T (p.Arg318Ser) n.826A>T n.6239A>T c.2310A>T (p.Arg770Ser) c.2217A>T (p.Arg739Ser) c.2136A>T (p.Arg712Ser) c.2112A>T (p.Arg704Ser) c.2019A>T (p.Arg673Ser) c.1245A>T (p.Arg415Ser) c.1158A>T (p.Arg386Ser) c.1071A>T (p.Arg357Ser) c.771+4389A>T (n.771+4389A>T) n.878A>T | |
17 | g.46018668G>A | CA399983730 | MAPT | c.961G>A (p.Val321Ile) c.874G>A (p.Val292Ile) c.1048G>A (p.Val350Ile) n.819G>A n.274G>A n.232G>A n.466G>A c.2224G>A (p.Val742Ile) c.1933G>A (p.Val645Ile) c.868G>A (p.Val290Ile) c.997G>A (p.Val333Ile) c.1999G>A (p.Val667Ile) c.781G>A (p.Val261Ile) c.2053G>A (p.Val685Ile) c.955G>A (p.Val319Ile) n.827G>A n.6240G>A c.2311G>A (p.Val771Ile) c.2218G>A (p.Val740Ile) c.2137G>A (p.Val713Ile) c.2113G>A (p.Val705Ile) c.2020G>A (p.Val674Ile) c.1246G>A (p.Val416Ile) c.1159G>A (p.Val387Ile) c.1072G>A (p.Val358Ile) c.771+4390G>A (n.771+4390G>A) n.879G>A | |
17 | g.46018668G>C | CA399983731 | MAPT | c.961G>C (p.Val321Leu) c.874G>C (p.Val292Leu) c.1048G>C (p.Val350Leu) n.819G>C n.274G>C n.232G>C n.466G>C c.2224G>C (p.Val742Leu) c.1933G>C (p.Val645Leu) c.868G>C (p.Val290Leu) c.997G>C (p.Val333Leu) c.1999G>C (p.Val667Leu) c.781G>C (p.Val261Leu) c.2053G>C (p.Val685Leu) c.955G>C (p.Val319Leu) n.827G>C n.6240G>C c.2311G>C (p.Val771Leu) c.2218G>C (p.Val740Leu) c.2137G>C (p.Val713Leu) c.2113G>C (p.Val705Leu) c.2020G>C (p.Val674Leu) c.1246G>C (p.Val416Leu) c.1159G>C (p.Val387Leu) c.1072G>C (p.Val358Leu) c.771+4390G>C (n.771+4390G>C) n.879G>C | |
17 | g.46018668G>T | CA399983732 | MAPT | c.961G>T (p.Val321Phe) c.874G>T (p.Val292Phe) c.1048G>T (p.Val350Phe) n.819G>T n.274G>T n.232G>T n.466G>T c.2224G>T (p.Val742Phe) c.1933G>T (p.Val645Phe) c.868G>T (p.Val290Phe) c.997G>T (p.Val333Phe) c.1999G>T (p.Val667Phe) c.781G>T (p.Val261Phe) c.2053G>T (p.Val685Phe) c.955G>T (p.Val319Phe) n.827G>T n.6240G>T c.2311G>T (p.Val771Phe) c.2218G>T (p.Val740Phe) c.2137G>T (p.Val713Phe) c.2113G>T (p.Val705Phe) c.2020G>T (p.Val674Phe) c.1246G>T (p.Val416Phe) c.1159G>T (p.Val387Phe) c.1072G>T (p.Val358Phe) c.771+4390G>T (n.771+4390G>T) n.879G>T | |
17 | g.46018669T>A | CA399983733 | MAPT | c.962T>A (p.Val321Asp) c.875T>A (p.Val292Asp) c.1049T>A (p.Val350Asp) n.820T>A n.275T>A n.233T>A n.467T>A c.2225T>A (p.Val742Asp) c.1934T>A (p.Val645Asp) c.869T>A (p.Val290Asp) c.998T>A (p.Val333Asp) c.2000T>A (p.Val667Asp) c.782T>A (p.Val261Asp) c.2054T>A (p.Val685Asp) c.956T>A (p.Val319Asp) n.828T>A n.6241T>A c.2312T>A (p.Val771Asp) c.2219T>A (p.Val740Asp) c.2138T>A (p.Val713Asp) c.2114T>A (p.Val705Asp) c.2021T>A (p.Val674Asp) c.1247T>A (p.Val416Asp) c.1160T>A (p.Val387Asp) c.1073T>A (p.Val358Asp) c.771+4391T>A (n.771+4391T>A) n.880T>A |