Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.45996513A>C | CA399978157 | MAPT | c.584A>C (p.Lys195Thr) c.497A>C (p.Lys166Thr) c.671A>C (p.Lys224Thr) n.535A>C c.1847A>C (p.Lys616Thr) c.1649A>C (p.Lys550Thr) c.1622A>C (p.Lys541Thr) c.1676A>C (p.Lys559Thr) n.625A>C n.5956A>C c.1934A>C (p.Lys645Thr) c.1760A>C (p.Lys587Thr) c.1736A>C (p.Lys579Thr) c.869A>C (p.Lys290Thr) c.782A>C (p.Lys261Thr) c.695A>C (p.Lys232Thr) n.595A>C | |
17 | g.45996513A>G | CA399978158 | MAPT | c.584A>G (p.Lys195Arg) c.497A>G (p.Lys166Arg) c.671A>G (p.Lys224Arg) n.535A>G c.1847A>G (p.Lys616Arg) c.1649A>G (p.Lys550Arg) c.1622A>G (p.Lys541Arg) c.1676A>G (p.Lys559Arg) n.625A>G n.5956A>G c.1934A>G (p.Lys645Arg) c.1760A>G (p.Lys587Arg) c.1736A>G (p.Lys579Arg) c.869A>G (p.Lys290Arg) c.782A>G (p.Lys261Arg) c.695A>G (p.Lys232Arg) n.595A>G | |
17 | g.45996513A>T | CA399978159 | MAPT | c.584A>T (p.Lys195Met) c.497A>T (p.Lys166Met) c.671A>T (p.Lys224Met) n.535A>T c.1847A>T (p.Lys616Met) c.1649A>T (p.Lys550Met) c.1622A>T (p.Lys541Met) c.1676A>T (p.Lys559Met) n.625A>T n.5956A>T c.1934A>T (p.Lys645Met) c.1760A>T (p.Lys587Met) c.1736A>T (p.Lys579Met) c.869A>T (p.Lys290Met) c.782A>T (p.Lys261Met) c.695A>T (p.Lys232Met) n.595A>T | |
17 | g.45996514G>A | CA500643979 | MAPT | c.585G>A (p.Lys195=) c.498G>A (p.Lys166=) c.672G>A (p.Lys224=) n.536G>A c.1848G>A (p.Lys616=) c.1650G>A (p.Lys550=) c.1623G>A (p.Lys541=) c.1677G>A (p.Lys559=) n.626G>A n.5957G>A c.1935G>A (p.Lys645=) c.1761G>A (p.Lys587=) c.1737G>A (p.Lys579=) c.870G>A (p.Lys290=) c.783G>A (p.Lys261=) c.696G>A (p.Lys232=) n.596G>A | |
17 | g.45996514G>C | CA399978160 | MAPT | c.585G>C (p.Lys195Asn) c.498G>C (p.Lys166Asn) c.672G>C (p.Lys224Asn) n.536G>C c.1848G>C (p.Lys616Asn) c.1650G>C (p.Lys550Asn) c.1623G>C (p.Lys541Asn) c.1677G>C (p.Lys559Asn) n.626G>C n.5957G>C c.1935G>C (p.Lys645Asn) c.1761G>C (p.Lys587Asn) c.1737G>C (p.Lys579Asn) c.870G>C (p.Lys290Asn) c.783G>C (p.Lys261Asn) c.696G>C (p.Lys232Asn) n.596G>C | |
17 | g.45996514G>T | CA399978161 | MAPT | c.585G>T (p.Lys195Asn) c.498G>T (p.Lys166Asn) c.672G>T (p.Lys224Asn) n.536G>T c.1848G>T (p.Lys616Asn) c.1650G>T (p.Lys550Asn) c.1623G>T (p.Lys541Asn) c.1677G>T (p.Lys559Asn) n.626G>T n.5957G>T c.1935G>T (p.Lys645Asn) c.1761G>T (p.Lys587Asn) c.1737G>T (p.Lys579Asn) c.870G>T (p.Lys290Asn) c.783G>T (p.Lys261Asn) c.696G>T (p.Lys232Asn) n.596G>T | |
17 | g.45996515A>C | CA399978162 | MAPT | c.586A>C (p.Lys196Gln) c.499A>C (p.Lys167Gln) c.673A>C (p.Lys225Gln) n.537A>C c.1849A>C (p.Lys617Gln) c.1651A>C (p.Lys551Gln) c.1624A>C (p.Lys542Gln) c.1678A>C (p.Lys560Gln) n.627A>C n.5958A>C c.1936A>C (p.Lys646Gln) c.1762A>C (p.Lys588Gln) c.1738A>C (p.Lys580Gln) c.871A>C (p.Lys291Gln) c.784A>C (p.Lys262Gln) c.697A>C (p.Lys233Gln) n.597A>C | |
17 | g.45996515A>G | CA399978163 | MAPT | c.586A>G (p.Lys196Glu) c.499A>G (p.Lys167Glu) c.673A>G (p.Lys225Glu) n.537A>G c.1849A>G (p.Lys617Glu) c.1651A>G (p.Lys551Glu) c.1624A>G (p.Lys542Glu) c.1678A>G (p.Lys560Glu) n.627A>G n.5958A>G c.1936A>G (p.Lys646Glu) c.1762A>G (p.Lys588Glu) c.1738A>G (p.Lys580Glu) c.871A>G (p.Lys291Glu) c.784A>G (p.Lys262Glu) c.697A>G (p.Lys233Glu) n.597A>G | |
17 | g.45996515A>T | CA399978164 | MAPT | c.586A>T (p.Lys196Ter) c.499A>T (p.Lys167Ter) c.673A>T (p.Lys225Ter) n.537A>T c.1849A>T (p.Lys617Ter) c.1651A>T (p.Lys551Ter) c.1624A>T (p.Lys542Ter) c.1678A>T (p.Lys560Ter) n.627A>T n.5958A>T c.1936A>T (p.Lys646Ter) c.1762A>T (p.Lys588Ter) c.1738A>T (p.Lys580Ter) c.871A>T (p.Lys291Ter) c.784A>T (p.Lys262Ter) c.697A>T (p.Lys233Ter) n.597A>T | |
17 | g.45996516A>C | CA399978166 | MAPT | c.587A>C (p.Lys196Thr) c.500A>C (p.Lys167Thr) c.674A>C (p.Lys225Thr) n.538A>C c.1850A>C (p.Lys617Thr) c.1652A>C (p.Lys551Thr) c.1625A>C (p.Lys542Thr) c.1679A>C (p.Lys560Thr) n.628A>C n.5959A>C c.1937A>C (p.Lys646Thr) c.1763A>C (p.Lys588Thr) c.1739A>C (p.Lys580Thr) c.872A>C (p.Lys291Thr) c.785A>C (p.Lys262Thr) c.698A>C (p.Lys233Thr) n.598A>C | |
17 | g.45996516A>G | CA399978167 | MAPT | c.587A>G (p.Lys196Arg) c.500A>G (p.Lys167Arg) c.674A>G (p.Lys225Arg) n.538A>G c.1850A>G (p.Lys617Arg) c.1652A>G (p.Lys551Arg) c.1625A>G (p.Lys542Arg) c.1679A>G (p.Lys560Arg) n.628A>G n.5959A>G c.1937A>G (p.Lys646Arg) c.1763A>G (p.Lys588Arg) c.1739A>G (p.Lys580Arg) c.872A>G (p.Lys291Arg) c.785A>G (p.Lys262Arg) c.698A>G (p.Lys233Arg) n.598A>G | |
17 | g.45996516A>T | CA399978165 | MAPT | c.587A>T (p.Lys196Met) c.500A>T (p.Lys167Met) c.674A>T (p.Lys225Met) n.538A>T c.1850A>T (p.Lys617Met) c.1652A>T (p.Lys551Met) c.1625A>T (p.Lys542Met) c.1679A>T (p.Lys560Met) n.628A>T n.5959A>T c.1937A>T (p.Lys646Met) c.1763A>T (p.Lys588Met) c.1739A>T (p.Lys580Met) c.872A>T (p.Lys291Met) c.785A>T (p.Lys262Met) c.698A>T (p.Lys233Met) n.598A>T | |
17 | g.45996517G>A | CA500643980 | MAPT | c.588G>A (p.Lys196=) c.501G>A (p.Lys167=) c.675G>A (p.Lys225=) n.539G>A c.1851G>A (p.Lys617=) c.1653G>A (p.Lys551=) c.1626G>A (p.Lys542=) c.1680G>A (p.Lys560=) n.629G>A n.5960G>A c.1938G>A (p.Lys646=) c.1764G>A (p.Lys588=) c.1740G>A (p.Lys580=) c.873G>A (p.Lys291=) c.786G>A (p.Lys262=) c.699G>A (p.Lys233=) n.599G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996517G>C | CA399978168 | MAPT | c.588G>C (p.Lys196Asn) c.501G>C (p.Lys167Asn) c.675G>C (p.Lys225Asn) n.539G>C c.1851G>C (p.Lys617Asn) c.1653G>C (p.Lys551Asn) c.1626G>C (p.Lys542Asn) c.1680G>C (p.Lys560Asn) n.629G>C n.5960G>C c.1938G>C (p.Lys646Asn) c.1764G>C (p.Lys588Asn) c.1740G>C (p.Lys580Asn) c.873G>C (p.Lys291Asn) c.786G>C (p.Lys262Asn) c.699G>C (p.Lys233Asn) n.599G>C | |
17 | g.45996517G= | CA2262095003 | MAPT | c.588G= (p.Lys196=) c.501G= (p.Lys167=) c.675G= (p.Lys225=) n.539G= c.1851G= (p.Lys617=) c.1653G= (p.Lys551=) c.1626G= (p.Lys542=) c.1680G= (p.Lys560=) n.629G= n.5960G= c.1938G= (p.Lys646=) c.1764G= (p.Lys588=) c.1740G= (p.Lys580=) c.873G= (p.Lys291=) c.786G= (p.Lys262=) c.699G= (p.Lys233=) n.599G= | |
17 | g.45996517G>T | CA399978169 | MAPT | c.588G>T (p.Lys196Asn) c.501G>T (p.Lys167Asn) c.675G>T (p.Lys225Asn) n.539G>T c.1851G>T (p.Lys617Asn) c.1653G>T (p.Lys551Asn) c.1626G>T (p.Lys542Asn) c.1680G>T (p.Lys560Asn) n.629G>T n.5960G>T c.1938G>T (p.Lys646Asn) c.1764G>T (p.Lys588Asn) c.1740G>T (p.Lys580Asn) c.873G>T (p.Lys291Asn) c.786G>T (p.Lys262Asn) c.699G>T (p.Lys233Asn) n.599G>T | |
17 | g.45996518G>A | CA399978170 | MAPT | c.589G>A (p.Val197Met) c.502G>A (p.Val168Met) c.676G>A (p.Val226Met) n.540G>A c.1852G>A (p.Val618Met) c.1654G>A (p.Val552Met) c.1627G>A (p.Val543Met) c.1681G>A (p.Val561Met) n.630G>A n.5961G>A c.1939G>A (p.Val647Met) c.1765G>A (p.Val589Met) c.1741G>A (p.Val581Met) c.874G>A (p.Val292Met) c.787G>A (p.Val263Met) c.700G>A (p.Val234Met) n.600G>A | |
17 | g.45996518G>C | CA399978171 | MAPT | c.589G>C (p.Val197Leu) c.502G>C (p.Val168Leu) c.676G>C (p.Val226Leu) n.540G>C c.1852G>C (p.Val618Leu) c.1654G>C (p.Val552Leu) c.1627G>C (p.Val543Leu) c.1681G>C (p.Val561Leu) n.630G>C n.5961G>C c.1939G>C (p.Val647Leu) c.1765G>C (p.Val589Leu) c.1741G>C (p.Val581Leu) c.874G>C (p.Val292Leu) c.787G>C (p.Val263Leu) c.700G>C (p.Val234Leu) n.600G>C | |
17 | g.45996518G>T | CA399978172 | MAPT | c.589G>T (p.Val197Leu) c.502G>T (p.Val168Leu) c.676G>T (p.Val226Leu) n.540G>T c.1852G>T (p.Val618Leu) c.1654G>T (p.Val552Leu) c.1627G>T (p.Val543Leu) c.1681G>T (p.Val561Leu) n.630G>T n.5961G>T c.1939G>T (p.Val647Leu) c.1765G>T (p.Val589Leu) c.1741G>T (p.Val581Leu) c.874G>T (p.Val292Leu) c.787G>T (p.Val263Leu) c.700G>T (p.Val234Leu) n.600G>T | |
17 | g.45996519T>A | CA399978173 | MAPT | c.590T>A (p.Val197Glu) c.503T>A (p.Val168Glu) c.677T>A (p.Val226Glu) n.541T>A c.1853T>A (p.Val618Glu) c.1655T>A (p.Val552Glu) c.1628T>A (p.Val543Glu) c.1682T>A (p.Val561Glu) n.631T>A n.5962T>A c.1940T>A (p.Val647Glu) c.1766T>A (p.Val589Glu) c.1742T>A (p.Val581Glu) c.875T>A (p.Val292Glu) c.788T>A (p.Val263Glu) c.701T>A (p.Val234Glu) n.601T>A | |
17 | g.45996519T>C | CA399978174 | MAPT | c.590T>C (p.Val197Ala) c.503T>C (p.Val168Ala) c.677T>C (p.Val226Ala) n.541T>C c.1853T>C (p.Val618Ala) c.1655T>C (p.Val552Ala) c.1628T>C (p.Val543Ala) c.1682T>C (p.Val561Ala) n.631T>C n.5962T>C c.1940T>C (p.Val647Ala) c.1766T>C (p.Val589Ala) c.1742T>C (p.Val581Ala) c.875T>C (p.Val292Ala) c.788T>C (p.Val263Ala) c.701T>C (p.Val234Ala) n.601T>C | |
17 | g.45996519T>G | CA399978175 | MAPT | c.590T>G (p.Val197Gly) c.503T>G (p.Val168Gly) c.677T>G (p.Val226Gly) n.541T>G c.1853T>G (p.Val618Gly) c.1655T>G (p.Val552Gly) c.1628T>G (p.Val543Gly) c.1682T>G (p.Val561Gly) n.631T>G n.5962T>G c.1940T>G (p.Val647Gly) c.1766T>G (p.Val589Gly) c.1742T>G (p.Val581Gly) c.875T>G (p.Val292Gly) c.788T>G (p.Val263Gly) c.701T>G (p.Val234Gly) n.601T>G | |
17 | g.45996520G>A | CA8618048 | MAPT | c.591G>A (p.Val197=) c.504G>A (p.Val168=) c.678G>A (p.Val226=) n.542G>A c.1854G>A (p.Val618=) c.1656G>A (p.Val552=) c.1629G>A (p.Val543=) c.1683G>A (p.Val561=) n.632G>A n.5963G>A c.1941G>A (p.Val647=) c.1767G>A (p.Val589=) c.1743G>A (p.Val581=) c.876G>A (p.Val292=) c.789G>A (p.Val263=) c.702G>A (p.Val234=) n.602G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996520G>C | CA500643981 | MAPT | c.591G>C (p.Val197=) c.504G>C (p.Val168=) c.678G>C (p.Val226=) n.542G>C c.1854G>C (p.Val618=) c.1656G>C (p.Val552=) c.1629G>C (p.Val543=) c.1683G>C (p.Val561=) n.632G>C n.5963G>C c.1941G>C (p.Val647=) c.1767G>C (p.Val589=) c.1743G>C (p.Val581=) c.876G>C (p.Val292=) c.789G>C (p.Val263=) c.702G>C (p.Val234=) n.602G>C | |
17 | g.45996520G= | CA2262095004 | MAPT | c.591G= (p.Val197=) c.504G= (p.Val168=) c.678G= (p.Val226=) n.542G= c.1854G= (p.Val618=) c.1656G= (p.Val552=) c.1629G= (p.Val543=) c.1683G= (p.Val561=) n.632G= n.5963G= c.1941G= (p.Val647=) c.1767G= (p.Val589=) c.1743G= (p.Val581=) c.876G= (p.Val292=) c.789G= (p.Val263=) c.702G= (p.Val234=) n.602G= | |
17 | g.45996520G>T | CA500643982 | MAPT | c.591G>T (p.Val197=) c.504G>T (p.Val168=) c.678G>T (p.Val226=) n.542G>T c.1854G>T (p.Val618=) c.1656G>T (p.Val552=) c.1629G>T (p.Val543=) c.1683G>T (p.Val561=) n.632G>T n.5963G>T c.1941G>T (p.Val647=) c.1767G>T (p.Val589=) c.1743G>T (p.Val581=) c.876G>T (p.Val292=) c.789G>T (p.Val263=) c.702G>T (p.Val234=) n.602G>T | |
17 | g.45996521G>A | CA399978176 | MAPT | c.592G>A (p.Ala198Thr) c.505G>A (p.Ala169Thr) c.679G>A (p.Ala227Thr) n.543G>A c.1855G>A (p.Ala619Thr) c.1657G>A (p.Ala553Thr) c.1630G>A (p.Ala544Thr) c.1684G>A (p.Ala562Thr) n.633G>A n.5964G>A c.1942G>A (p.Ala648Thr) c.1768G>A (p.Ala590Thr) c.1744G>A (p.Ala582Thr) c.877G>A (p.Ala293Thr) c.790G>A (p.Ala264Thr) c.703G>A (p.Ala235Thr) n.603G>A | |
17 | g.45996521G>C | CA399978177 | MAPT | c.592G>C (p.Ala198Pro) c.505G>C (p.Ala169Pro) c.679G>C (p.Ala227Pro) n.543G>C c.1855G>C (p.Ala619Pro) c.1657G>C (p.Ala553Pro) c.1630G>C (p.Ala544Pro) c.1684G>C (p.Ala562Pro) n.633G>C n.5964G>C c.1942G>C (p.Ala648Pro) c.1768G>C (p.Ala590Pro) c.1744G>C (p.Ala582Pro) c.877G>C (p.Ala293Pro) c.790G>C (p.Ala264Pro) c.703G>C (p.Ala235Pro) n.603G>C | |
17 | g.45996521G= | CA2262095005 | MAPT | c.592G= (p.Ala198=) c.505G= (p.Ala169=) c.679G= (p.Ala227=) n.543G= c.1855G= (p.Ala619=) c.1657G= (p.Ala553=) c.1630G= (p.Ala544=) c.1684G= (p.Ala562=) n.633G= n.5964G= c.1942G= (p.Ala648=) c.1768G= (p.Ala590=) c.1744G= (p.Ala582=) c.877G= (p.Ala293=) c.790G= (p.Ala264=) c.703G= (p.Ala235=) n.603G= | |
17 | g.45996521G>T | CA399978178 | MAPT | c.592G>T (p.Ala198Ser) c.505G>T (p.Ala169Ser) c.679G>T (p.Ala227Ser) n.543G>T c.1855G>T (p.Ala619Ser) c.1657G>T (p.Ala553Ser) c.1630G>T (p.Ala544Ser) c.1684G>T (p.Ala562Ser) n.633G>T n.5964G>T c.1942G>T (p.Ala648Ser) c.1768G>T (p.Ala590Ser) c.1744G>T (p.Ala582Ser) c.877G>T (p.Ala293Ser) c.790G>T (p.Ala264Ser) c.703G>T (p.Ala235Ser) n.603G>T | dbSNP |
17 | g.45996522C>A | CA399978181 | MAPT | c.593C>A (p.Ala198Glu) c.506C>A (p.Ala169Glu) c.680C>A (p.Ala227Glu) n.544C>A c.1856C>A (p.Ala619Glu) c.1658C>A (p.Ala553Glu) c.1631C>A (p.Ala544Glu) c.1685C>A (p.Ala562Glu) n.634C>A n.5965C>A c.1943C>A (p.Ala648Glu) c.1769C>A (p.Ala590Glu) c.1745C>A (p.Ala582Glu) c.878C>A (p.Ala293Glu) c.791C>A (p.Ala264Glu) c.704C>A (p.Ala235Glu) n.604C>A | |
17 | g.45996522C>G | CA399978179 | MAPT | c.593C>G (p.Ala198Gly) c.506C>G (p.Ala169Gly) c.680C>G (p.Ala227Gly) n.544C>G c.1856C>G (p.Ala619Gly) c.1658C>G (p.Ala553Gly) c.1631C>G (p.Ala544Gly) c.1685C>G (p.Ala562Gly) n.634C>G n.5965C>G c.1943C>G (p.Ala648Gly) c.1769C>G (p.Ala590Gly) c.1745C>G (p.Ala582Gly) c.878C>G (p.Ala293Gly) c.791C>G (p.Ala264Gly) c.704C>G (p.Ala235Gly) n.604C>G | |
17 | g.45996522C>T | CA399978180 | MAPT | c.593C>T (p.Ala198Val) c.506C>T (p.Ala169Val) c.680C>T (p.Ala227Val) n.544C>T c.1856C>T (p.Ala619Val) c.1658C>T (p.Ala553Val) c.1631C>T (p.Ala544Val) c.1685C>T (p.Ala562Val) n.634C>T n.5965C>T c.1943C>T (p.Ala648Val) c.1769C>T (p.Ala590Val) c.1745C>T (p.Ala582Val) c.878C>T (p.Ala293Val) c.791C>T (p.Ala264Val) c.704C>T (p.Ala235Val) n.604C>T | gnomAD v4 |
17 | g.45996523A= | CA2262095006 | MAPT | c.594A= (p.Ala198=) c.507A= (p.Ala169=) c.681A= (p.Ala227=) n.545A= c.1857A= (p.Ala619=) c.1659A= (p.Ala553=) c.1632A= (p.Ala544=) c.1686A= (p.Ala562=) n.635A= n.5966A= c.1944A= (p.Ala648=) c.1770A= (p.Ala590=) c.1746A= (p.Ala582=) c.879A= (p.Ala293=) c.792A= (p.Ala264=) c.705A= (p.Ala235=) n.605A= | |
17 | g.45996523A>C | CA500643984 | MAPT | c.594A>C (p.Ala198=) c.507A>C (p.Ala169=) c.681A>C (p.Ala227=) n.545A>C c.1857A>C (p.Ala619=) c.1659A>C (p.Ala553=) c.1632A>C (p.Ala544=) c.1686A>C (p.Ala562=) n.635A>C n.5966A>C c.1944A>C (p.Ala648=) c.1770A>C (p.Ala590=) c.1746A>C (p.Ala582=) c.879A>C (p.Ala293=) c.792A>C (p.Ala264=) c.705A>C (p.Ala235=) n.605A>C | |
17 | g.45996523A>G | CA225407 | MAPT | c.594A>G (p.Ala198=) c.507A>G (p.Ala169=) c.681A>G (p.Ala227=) n.545A>G c.1857A>G (p.Ala619=) c.1659A>G (p.Ala553=) c.1632A>G (p.Ala544=) c.1686A>G (p.Ala562=) n.635A>G n.5966A>G c.1944A>G (p.Ala648=) c.1770A>G (p.Ala590=) c.1746A>G (p.Ala582=) c.879A>G (p.Ala293=) c.792A>G (p.Ala264=) c.705A>G (p.Ala235=) n.605A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996523A>T | CA500643983 | MAPT | c.594A>T (p.Ala198=) c.507A>T (p.Ala169=) c.681A>T (p.Ala227=) n.545A>T c.1857A>T (p.Ala619=) c.1659A>T (p.Ala553=) c.1632A>T (p.Ala544=) c.1686A>T (p.Ala562=) n.635A>T n.5966A>T c.1944A>T (p.Ala648=) c.1770A>T (p.Ala590=) c.1746A>T (p.Ala582=) c.879A>T (p.Ala293=) c.792A>T (p.Ala264=) c.705A>T (p.Ala235=) n.605A>T | |
17 | g.45996524G>A | CA399978182 | MAPT | c.595G>A (p.Val199Met) c.508G>A (p.Val170Met) c.682G>A (p.Val228Met) n.546G>A c.1858G>A (p.Val620Met) c.1660G>A (p.Val554Met) c.1633G>A (p.Val545Met) c.1687G>A (p.Val563Met) n.636G>A n.5967G>A c.1945G>A (p.Val649Met) c.1771G>A (p.Val591Met) c.1747G>A (p.Val583Met) c.880G>A (p.Val294Met) c.793G>A (p.Val265Met) c.706G>A (p.Val236Met) n.606G>A | |
17 | g.45996524G>C | CA399978183 | MAPT | c.595G>C (p.Val199Leu) c.508G>C (p.Val170Leu) c.682G>C (p.Val228Leu) n.546G>C c.1858G>C (p.Val620Leu) c.1660G>C (p.Val554Leu) c.1633G>C (p.Val545Leu) c.1687G>C (p.Val563Leu) n.636G>C n.5967G>C c.1945G>C (p.Val649Leu) c.1771G>C (p.Val591Leu) c.1747G>C (p.Val583Leu) c.880G>C (p.Val294Leu) c.793G>C (p.Val265Leu) c.706G>C (p.Val236Leu) n.606G>C | |
17 | g.45996524G>T | CA399978184 | MAPT | c.595G>T (p.Val199Leu) c.508G>T (p.Val170Leu) c.682G>T (p.Val228Leu) n.546G>T c.1858G>T (p.Val620Leu) c.1660G>T (p.Val554Leu) c.1633G>T (p.Val545Leu) c.1687G>T (p.Val563Leu) n.636G>T n.5967G>T c.1945G>T (p.Val649Leu) c.1771G>T (p.Val591Leu) c.1747G>T (p.Val583Leu) c.880G>T (p.Val294Leu) c.793G>T (p.Val265Leu) c.706G>T (p.Val236Leu) n.606G>T | |
17 | g.45996525T>A | CA399978185 | MAPT | c.596T>A (p.Val199Glu) c.509T>A (p.Val170Glu) c.683T>A (p.Val228Glu) n.547T>A c.1859T>A (p.Val620Glu) c.1661T>A (p.Val554Glu) c.1634T>A (p.Val545Glu) c.1688T>A (p.Val563Glu) n.637T>A n.5968T>A c.1946T>A (p.Val649Glu) c.1772T>A (p.Val591Glu) c.1748T>A (p.Val583Glu) c.881T>A (p.Val294Glu) c.794T>A (p.Val265Glu) c.707T>A (p.Val236Glu) n.607T>A | |
17 | g.45996525T>C | CA399978186 | MAPT | c.596T>C (p.Val199Ala) c.509T>C (p.Val170Ala) c.683T>C (p.Val228Ala) n.547T>C c.1859T>C (p.Val620Ala) c.1661T>C (p.Val554Ala) c.1634T>C (p.Val545Ala) c.1688T>C (p.Val563Ala) n.637T>C n.5968T>C c.1946T>C (p.Val649Ala) c.1772T>C (p.Val591Ala) c.1748T>C (p.Val583Ala) c.881T>C (p.Val294Ala) c.794T>C (p.Val265Ala) c.707T>C (p.Val236Ala) n.607T>C | |
17 | g.45996525T>G | CA399978187 | MAPT | c.596T>G (p.Val199Gly) c.509T>G (p.Val170Gly) c.683T>G (p.Val228Gly) n.547T>G c.1859T>G (p.Val620Gly) c.1661T>G (p.Val554Gly) c.1634T>G (p.Val545Gly) c.1688T>G (p.Val563Gly) n.637T>G n.5968T>G c.1946T>G (p.Val649Gly) c.1772T>G (p.Val591Gly) c.1748T>G (p.Val583Gly) c.881T>G (p.Val294Gly) c.794T>G (p.Val265Gly) c.707T>G (p.Val236Gly) n.607T>G | |
17 | g.45996526G>A | CA500643985 | MAPT | c.597G>A (p.Val199=) c.510G>A (p.Val170=) c.684G>A (p.Val228=) n.548G>A c.1860G>A (p.Val620=) c.1662G>A (p.Val554=) c.1635G>A (p.Val545=) c.1689G>A (p.Val563=) n.638G>A n.5969G>A c.1947G>A (p.Val649=) c.1773G>A (p.Val591=) c.1749G>A (p.Val583=) c.882G>A (p.Val294=) c.795G>A (p.Val265=) c.708G>A (p.Val236=) n.608G>A | |
17 | g.45996526G>C | CA500643987 | MAPT | c.597G>C (p.Val199=) c.510G>C (p.Val170=) c.684G>C (p.Val228=) n.548G>C c.1860G>C (p.Val620=) c.1662G>C (p.Val554=) c.1635G>C (p.Val545=) c.1689G>C (p.Val563=) n.638G>C n.5969G>C c.1947G>C (p.Val649=) c.1773G>C (p.Val591=) c.1749G>C (p.Val583=) c.882G>C (p.Val294=) c.795G>C (p.Val265=) c.708G>C (p.Val236=) n.608G>C | |
17 | g.45996526G>T | CA500643986 | MAPT | c.597G>T (p.Val199=) c.510G>T (p.Val170=) c.684G>T (p.Val228=) n.548G>T c.1860G>T (p.Val620=) c.1662G>T (p.Val554=) c.1635G>T (p.Val545=) c.1689G>T (p.Val563=) n.638G>T n.5969G>T c.1947G>T (p.Val649=) c.1773G>T (p.Val591=) c.1749G>T (p.Val583=) c.882G>T (p.Val294=) c.795G>T (p.Val265=) c.708G>T (p.Val236=) n.608G>T | |
17 | g.45996527G>A | CA399978188 | MAPT | c.598G>A (p.Val200Ile) c.511G>A (p.Val171Ile) c.685G>A (p.Val229Ile) n.549G>A c.1861G>A (p.Val621Ile) c.1663G>A (p.Val555Ile) c.1636G>A (p.Val546Ile) c.1690G>A (p.Val564Ile) n.639G>A n.5970G>A c.1948G>A (p.Val650Ile) c.1774G>A (p.Val592Ile) c.1750G>A (p.Val584Ile) c.883G>A (p.Val295Ile) c.796G>A (p.Val266Ile) c.709G>A (p.Val237Ile) n.609G>A | |
17 | g.45996527G>C | CA399978189 | MAPT | c.598G>C (p.Val200Leu) c.511G>C (p.Val171Leu) c.685G>C (p.Val229Leu) n.549G>C c.1861G>C (p.Val621Leu) c.1663G>C (p.Val555Leu) c.1636G>C (p.Val546Leu) c.1690G>C (p.Val564Leu) n.639G>C n.5970G>C c.1948G>C (p.Val650Leu) c.1774G>C (p.Val592Leu) c.1750G>C (p.Val584Leu) c.883G>C (p.Val295Leu) c.796G>C (p.Val266Leu) c.709G>C (p.Val237Leu) n.609G>C | |
17 | g.45996527G>T | CA399978190 | MAPT | c.598G>T (p.Val200Phe) c.511G>T (p.Val171Phe) c.685G>T (p.Val229Phe) n.549G>T c.1861G>T (p.Val621Phe) c.1663G>T (p.Val555Phe) c.1636G>T (p.Val546Phe) c.1690G>T (p.Val564Phe) n.639G>T n.5970G>T c.1948G>T (p.Val650Phe) c.1774G>T (p.Val592Phe) c.1750G>T (p.Val584Phe) c.883G>T (p.Val295Phe) c.796G>T (p.Val266Phe) c.709G>T (p.Val237Phe) n.609G>T | |
17 | g.45996528T>A | CA399978191 | MAPT | c.599T>A (p.Val200Asp) c.512T>A (p.Val171Asp) c.686T>A (p.Val229Asp) n.550T>A c.1862T>A (p.Val621Asp) c.1664T>A (p.Val555Asp) c.1637T>A (p.Val546Asp) c.1691T>A (p.Val564Asp) n.640T>A n.5971T>A c.1949T>A (p.Val650Asp) c.1775T>A (p.Val592Asp) c.1751T>A (p.Val584Asp) c.884T>A (p.Val295Asp) c.797T>A (p.Val266Asp) c.710T>A (p.Val237Asp) n.610T>A | |
17 | g.45996528T>C | CA399978192 | MAPT | c.599T>C (p.Val200Ala) c.512T>C (p.Val171Ala) c.686T>C (p.Val229Ala) n.550T>C c.1862T>C (p.Val621Ala) c.1664T>C (p.Val555Ala) c.1637T>C (p.Val546Ala) c.1691T>C (p.Val564Ala) n.640T>C n.5971T>C c.1949T>C (p.Val650Ala) c.1775T>C (p.Val592Ala) c.1751T>C (p.Val584Ala) c.884T>C (p.Val295Ala) c.797T>C (p.Val266Ala) c.710T>C (p.Val237Ala) n.610T>C | |
17 | g.45996528T>G | CA399978193 | MAPT | c.599T>G (p.Val200Gly) c.512T>G (p.Val171Gly) c.686T>G (p.Val229Gly) n.550T>G c.1862T>G (p.Val621Gly) c.1664T>G (p.Val555Gly) c.1637T>G (p.Val546Gly) c.1691T>G (p.Val564Gly) n.640T>G n.5971T>G c.1949T>G (p.Val650Gly) c.1775T>G (p.Val592Gly) c.1751T>G (p.Val584Gly) c.884T>G (p.Val295Gly) c.797T>G (p.Val266Gly) c.710T>G (p.Val237Gly) n.610T>G | |
17 | g.45996529C>A | CA500643988 | MAPT | c.600C>A (p.Val200=) c.513C>A (p.Val171=) c.687C>A (p.Val229=) n.551C>A c.1863C>A (p.Val621=) c.1665C>A (p.Val555=) c.1638C>A (p.Val546=) c.1692C>A (p.Val564=) n.641C>A n.5972C>A c.1950C>A (p.Val650=) c.1776C>A (p.Val592=) c.1752C>A (p.Val584=) c.885C>A (p.Val295=) c.798C>A (p.Val266=) c.711C>A (p.Val237=) n.611C>A | |
17 | g.45996529C>G | CA500643989 | MAPT | c.600C>G (p.Val200=) c.513C>G (p.Val171=) c.687C>G (p.Val229=) n.551C>G c.1863C>G (p.Val621=) c.1665C>G (p.Val555=) c.1638C>G (p.Val546=) c.1692C>G (p.Val564=) n.641C>G n.5972C>G c.1950C>G (p.Val650=) c.1776C>G (p.Val592=) c.1752C>G (p.Val584=) c.885C>G (p.Val295=) c.798C>G (p.Val266=) c.711C>G (p.Val237=) n.611C>G | |
17 | g.45996529C>T | CA500643990 | MAPT | c.600C>T (p.Val200=) c.513C>T (p.Val171=) c.687C>T (p.Val229=) n.551C>T c.1863C>T (p.Val621=) c.1665C>T (p.Val555=) c.1638C>T (p.Val546=) c.1692C>T (p.Val564=) n.641C>T n.5972C>T c.1950C>T (p.Val650=) c.1776C>T (p.Val592=) c.1752C>T (p.Val584=) c.885C>T (p.Val295=) c.798C>T (p.Val266=) c.711C>T (p.Val237=) n.611C>T | |
17 | g.45996530C>A | CA399978195 | MAPT | c.601C>A (p.Arg201Ser) c.514C>A (p.Arg172Ser) c.688C>A (p.Arg230Ser) n.552C>A c.1864C>A (p.Arg622Ser) c.1666C>A (p.Arg556Ser) c.1639C>A (p.Arg547Ser) c.1693C>A (p.Arg565Ser) n.642C>A n.5973C>A c.1951C>A (p.Arg651Ser) c.1777C>A (p.Arg593Ser) c.1753C>A (p.Arg585Ser) c.886C>A (p.Arg296Ser) c.799C>A (p.Arg267Ser) c.712C>A (p.Arg238Ser) n.612C>A | |
17 | g.45996530C>G | CA399978196 | MAPT | c.601C>G (p.Arg201Gly) c.514C>G (p.Arg172Gly) c.688C>G (p.Arg230Gly) n.552C>G c.1864C>G (p.Arg622Gly) c.1666C>G (p.Arg556Gly) c.1639C>G (p.Arg547Gly) c.1693C>G (p.Arg565Gly) n.642C>G n.5973C>G c.1951C>G (p.Arg651Gly) c.1777C>G (p.Arg593Gly) c.1753C>G (p.Arg585Gly) c.886C>G (p.Arg296Gly) c.799C>G (p.Arg267Gly) c.712C>G (p.Arg238Gly) n.612C>G | |
17 | g.45996530C>T | CA399978194 | MAPT | c.601C>T (p.Arg201Cys) c.514C>T (p.Arg172Cys) c.688C>T (p.Arg230Cys) n.552C>T c.1864C>T (p.Arg622Cys) c.1666C>T (p.Arg556Cys) c.1639C>T (p.Arg547Cys) c.1693C>T (p.Arg565Cys) n.642C>T n.5973C>T c.1951C>T (p.Arg651Cys) c.1777C>T (p.Arg593Cys) c.1753C>T (p.Arg585Cys) c.886C>T (p.Arg296Cys) c.799C>T (p.Arg267Cys) c.712C>T (p.Arg238Cys) n.612C>T | dbSNP gnomAD v4 |
17 | g.45996531G>A | CA399978199 | MAPT | c.602G>A (p.Arg201His) c.515G>A (p.Arg172His) c.689G>A (p.Arg230His) n.553G>A c.1865G>A (p.Arg622His) c.1667G>A (p.Arg556His) c.1640G>A (p.Arg547His) c.1694G>A (p.Arg565His) n.643G>A n.5974G>A c.1952G>A (p.Arg651His) c.1778G>A (p.Arg593His) c.1754G>A (p.Arg585His) c.887G>A (p.Arg296His) c.800G>A (p.Arg267His) c.713G>A (p.Arg238His) n.613G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996531G>C | CA399978197 | MAPT | c.602G>C (p.Arg201Pro) c.515G>C (p.Arg172Pro) c.689G>C (p.Arg230Pro) n.553G>C c.1865G>C (p.Arg622Pro) c.1667G>C (p.Arg556Pro) c.1640G>C (p.Arg547Pro) c.1694G>C (p.Arg565Pro) n.643G>C n.5974G>C c.1952G>C (p.Arg651Pro) c.1778G>C (p.Arg593Pro) c.1754G>C (p.Arg585Pro) c.887G>C (p.Arg296Pro) c.800G>C (p.Arg267Pro) c.713G>C (p.Arg238Pro) n.613G>C | |
17 | g.45996531G= | CA2262095007 | MAPT | c.602G= (p.Arg201=) c.515G= (p.Arg172=) c.689G= (p.Arg230=) n.553G= c.1865G= (p.Arg622=) c.1667G= (p.Arg556=) c.1640G= (p.Arg547=) c.1694G= (p.Arg565=) n.643G= n.5974G= c.1952G= (p.Arg651=) c.1778G= (p.Arg593=) c.1754G= (p.Arg585=) c.887G= (p.Arg296=) c.800G= (p.Arg267=) c.713G= (p.Arg238=) n.613G= | |
17 | g.45996531G>T | CA399978198 | MAPT | c.602G>T (p.Arg201Leu) c.515G>T (p.Arg172Leu) c.689G>T (p.Arg230Leu) n.553G>T c.1865G>T (p.Arg622Leu) c.1667G>T (p.Arg556Leu) c.1640G>T (p.Arg547Leu) c.1694G>T (p.Arg565Leu) n.643G>T n.5974G>T c.1952G>T (p.Arg651Leu) c.1778G>T (p.Arg593Leu) c.1754G>T (p.Arg585Leu) c.887G>T (p.Arg296Leu) c.800G>T (p.Arg267Leu) c.713G>T (p.Arg238Leu) n.613G>T | |
17 | g.45996532T>A | CA500643992 | MAPT | c.603T>A (p.Arg201=) c.516T>A (p.Arg172=) c.690T>A (p.Arg230=) n.554T>A c.1866T>A (p.Arg622=) c.1668T>A (p.Arg556=) c.1641T>A (p.Arg547=) c.1695T>A (p.Arg565=) n.644T>A n.5975T>A c.1953T>A (p.Arg651=) c.1779T>A (p.Arg593=) c.1755T>A (p.Arg585=) c.888T>A (p.Arg296=) c.801T>A (p.Arg267=) c.714T>A (p.Arg238=) n.614T>A | |
17 | g.45996532T>C | CA8618049 | MAPT | c.603T>C (p.Arg201=) c.516T>C (p.Arg172=) c.690T>C (p.Arg230=) n.554T>C c.1866T>C (p.Arg622=) c.1668T>C (p.Arg556=) c.1641T>C (p.Arg547=) c.1695T>C (p.Arg565=) n.644T>C n.5975T>C c.1953T>C (p.Arg651=) c.1779T>C (p.Arg593=) c.1755T>C (p.Arg585=) c.888T>C (p.Arg296=) c.801T>C (p.Arg267=) c.714T>C (p.Arg238=) n.614T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996532T>G | CA500643991 | MAPT | c.603T>G (p.Arg201=) c.516T>G (p.Arg172=) c.690T>G (p.Arg230=) n.554T>G c.1866T>G (p.Arg622=) c.1668T>G (p.Arg556=) c.1641T>G (p.Arg547=) c.1695T>G (p.Arg565=) n.644T>G n.5975T>G c.1953T>G (p.Arg651=) c.1779T>G (p.Arg593=) c.1755T>G (p.Arg585=) c.888T>G (p.Arg296=) c.801T>G (p.Arg267=) c.714T>G (p.Arg238=) n.614T>G | |
17 | g.45996532T= | CA2262095008 | MAPT | c.603T= (p.Arg201=) c.516T= (p.Arg172=) c.690T= (p.Arg230=) n.554T= c.1866T= (p.Arg622=) c.1668T= (p.Arg556=) c.1641T= (p.Arg547=) c.1695T= (p.Arg565=) n.644T= n.5975T= c.1953T= (p.Arg651=) c.1779T= (p.Arg593=) c.1755T= (p.Arg585=) c.888T= (p.Arg296=) c.801T= (p.Arg267=) c.714T= (p.Arg238=) n.614T= | |
17 | g.45996533A>C | CA399978200 | MAPT | c.604A>C (p.Thr202Pro) c.517A>C (p.Thr173Pro) c.691A>C (p.Thr231Pro) n.555A>C c.1867A>C (p.Thr623Pro) c.1669A>C (p.Thr557Pro) c.1642A>C (p.Thr548Pro) c.1696A>C (p.Thr566Pro) n.645A>C n.5976A>C c.1954A>C (p.Thr652Pro) c.1780A>C (p.Thr594Pro) c.1756A>C (p.Thr586Pro) c.889A>C (p.Thr297Pro) c.802A>C (p.Thr268Pro) c.715A>C (p.Thr239Pro) n.615A>C | gnomAD v3 gnomAD v4 |
17 | g.45996533A>G | CA399978201 | MAPT | c.604A>G (p.Thr202Ala) c.517A>G (p.Thr173Ala) c.691A>G (p.Thr231Ala) n.555A>G c.1867A>G (p.Thr623Ala) c.1669A>G (p.Thr557Ala) c.1642A>G (p.Thr548Ala) c.1696A>G (p.Thr566Ala) n.645A>G n.5976A>G c.1954A>G (p.Thr652Ala) c.1780A>G (p.Thr594Ala) c.1756A>G (p.Thr586Ala) c.889A>G (p.Thr297Ala) c.802A>G (p.Thr268Ala) c.715A>G (p.Thr239Ala) n.615A>G | |
17 | g.45996533A>T | CA399978202 | MAPT | c.604A>T (p.Thr202Ser) c.517A>T (p.Thr173Ser) c.691A>T (p.Thr231Ser) n.555A>T c.1867A>T (p.Thr623Ser) c.1669A>T (p.Thr557Ser) c.1642A>T (p.Thr548Ser) c.1696A>T (p.Thr566Ser) n.645A>T n.5976A>T c.1954A>T (p.Thr652Ser) c.1780A>T (p.Thr594Ser) c.1756A>T (p.Thr586Ser) c.889A>T (p.Thr297Ser) c.802A>T (p.Thr268Ser) c.715A>T (p.Thr239Ser) n.615A>T | |
17 | g.45996534C>A | CA399978203 | MAPT | c.605C>A (p.Thr202Asn) c.518C>A (p.Thr173Asn) c.692C>A (p.Thr231Asn) n.556C>A c.1868C>A (p.Thr623Asn) c.1670C>A (p.Thr557Asn) c.1643C>A (p.Thr548Asn) c.1697C>A (p.Thr566Asn) n.646C>A n.5977C>A c.1955C>A (p.Thr652Asn) c.1781C>A (p.Thr594Asn) c.1757C>A (p.Thr586Asn) c.890C>A (p.Thr297Asn) c.803C>A (p.Thr268Asn) c.716C>A (p.Thr239Asn) n.616C>A | |
17 | g.45996534C>G | CA399978204 | MAPT | c.605C>G (p.Thr202Ser) c.518C>G (p.Thr173Ser) c.692C>G (p.Thr231Ser) n.556C>G c.1868C>G (p.Thr623Ser) c.1670C>G (p.Thr557Ser) c.1643C>G (p.Thr548Ser) c.1697C>G (p.Thr566Ser) n.646C>G n.5977C>G c.1955C>G (p.Thr652Ser) c.1781C>G (p.Thr594Ser) c.1757C>G (p.Thr586Ser) c.890C>G (p.Thr297Ser) c.803C>G (p.Thr268Ser) c.716C>G (p.Thr239Ser) n.616C>G | |
17 | g.45996534C>T | CA399978205 | MAPT | c.605C>T (p.Thr202Ile) c.518C>T (p.Thr173Ile) c.692C>T (p.Thr231Ile) n.556C>T c.1868C>T (p.Thr623Ile) c.1670C>T (p.Thr557Ile) c.1643C>T (p.Thr548Ile) c.1697C>T (p.Thr566Ile) n.646C>T n.5977C>T c.1955C>T (p.Thr652Ile) c.1781C>T (p.Thr594Ile) c.1757C>T (p.Thr586Ile) c.890C>T (p.Thr297Ile) c.803C>T (p.Thr268Ile) c.716C>T (p.Thr239Ile) n.616C>T | |
17 | g.45996535T>A | CA500643994 | MAPT | c.606T>A (p.Thr202=) c.519T>A (p.Thr173=) c.693T>A (p.Thr231=) n.557T>A c.1869T>A (p.Thr623=) c.1671T>A (p.Thr557=) c.1644T>A (p.Thr548=) c.1698T>A (p.Thr566=) n.647T>A n.5978T>A c.1956T>A (p.Thr652=) c.1782T>A (p.Thr594=) c.1758T>A (p.Thr586=) c.891T>A (p.Thr297=) c.804T>A (p.Thr268=) c.717T>A (p.Thr239=) n.617T>A | |
17 | g.45996535T>C | CA500643995 | MAPT | c.606T>C (p.Thr202=) c.519T>C (p.Thr173=) c.693T>C (p.Thr231=) n.557T>C c.1869T>C (p.Thr623=) c.1671T>C (p.Thr557=) c.1644T>C (p.Thr548=) c.1698T>C (p.Thr566=) n.647T>C n.5978T>C c.1956T>C (p.Thr652=) c.1782T>C (p.Thr594=) c.1758T>C (p.Thr586=) c.891T>C (p.Thr297=) c.804T>C (p.Thr268=) c.717T>C (p.Thr239=) n.617T>C | |
17 | g.45996535T>G | CA500643993 | MAPT | c.606T>G (p.Thr202=) c.519T>G (p.Thr173=) c.693T>G (p.Thr231=) n.557T>G c.1869T>G (p.Thr623=) c.1671T>G (p.Thr557=) c.1644T>G (p.Thr548=) c.1698T>G (p.Thr566=) n.647T>G n.5978T>G c.1956T>G (p.Thr652=) c.1782T>G (p.Thr594=) c.1758T>G (p.Thr586=) c.891T>G (p.Thr297=) c.804T>G (p.Thr268=) c.717T>G (p.Thr239=) n.617T>G | |
17 | g.45996536C>A | CA399978206 | MAPT | c.607C>A (p.Pro203Thr) c.520C>A (p.Pro174Thr) c.694C>A (p.Pro232Thr) n.558C>A c.1870C>A (p.Pro624Thr) c.1672C>A (p.Pro558Thr) c.1645C>A (p.Pro549Thr) c.1699C>A (p.Pro567Thr) n.648C>A n.5979C>A c.1957C>A (p.Pro653Thr) c.1783C>A (p.Pro595Thr) c.1759C>A (p.Pro587Thr) c.892C>A (p.Pro298Thr) c.805C>A (p.Pro269Thr) c.718C>A (p.Pro240Thr) n.618C>A | |
17 | g.45996536C>G | CA399978207 | MAPT | c.607C>G (p.Pro203Ala) c.520C>G (p.Pro174Ala) c.694C>G (p.Pro232Ala) n.558C>G c.1870C>G (p.Pro624Ala) c.1672C>G (p.Pro558Ala) c.1645C>G (p.Pro549Ala) c.1699C>G (p.Pro567Ala) n.648C>G n.5979C>G c.1957C>G (p.Pro653Ala) c.1783C>G (p.Pro595Ala) c.1759C>G (p.Pro587Ala) c.892C>G (p.Pro298Ala) c.805C>G (p.Pro269Ala) c.718C>G (p.Pro240Ala) n.618C>G | |
17 | g.45996536C>T | CA399978208 | MAPT | c.607C>T (p.Pro203Ser) c.520C>T (p.Pro174Ser) c.694C>T (p.Pro232Ser) n.558C>T c.1870C>T (p.Pro624Ser) c.1672C>T (p.Pro558Ser) c.1645C>T (p.Pro549Ser) c.1699C>T (p.Pro567Ser) n.648C>T n.5979C>T c.1957C>T (p.Pro653Ser) c.1783C>T (p.Pro595Ser) c.1759C>T (p.Pro587Ser) c.892C>T (p.Pro298Ser) c.805C>T (p.Pro269Ser) c.718C>T (p.Pro240Ser) n.618C>T | |
17 | g.45996537C>A | CA399978211 | MAPT | c.608C>A (p.Pro203Gln) c.521C>A (p.Pro174Gln) c.695C>A (p.Pro232Gln) n.559C>A c.1871C>A (p.Pro624Gln) c.1673C>A (p.Pro558Gln) c.1646C>A (p.Pro549Gln) c.1700C>A (p.Pro567Gln) n.649C>A n.5980C>A c.1958C>A (p.Pro653Gln) c.1784C>A (p.Pro595Gln) c.1760C>A (p.Pro587Gln) c.893C>A (p.Pro298Gln) c.806C>A (p.Pro269Gln) c.719C>A (p.Pro240Gln) n.619C>A | dbSNP |
17 | g.45996537C>G | CA399978209 | MAPT | c.608C>G (p.Pro203Arg) c.521C>G (p.Pro174Arg) c.695C>G (p.Pro232Arg) n.559C>G c.1871C>G (p.Pro624Arg) c.1673C>G (p.Pro558Arg) c.1646C>G (p.Pro549Arg) c.1700C>G (p.Pro567Arg) n.649C>G n.5980C>G c.1958C>G (p.Pro653Arg) c.1784C>G (p.Pro595Arg) c.1760C>G (p.Pro587Arg) c.893C>G (p.Pro298Arg) c.806C>G (p.Pro269Arg) c.719C>G (p.Pro240Arg) n.619C>G | |
17 | g.45996537C>T | CA399978210 | MAPT | c.608C>T (p.Pro203Leu) c.521C>T (p.Pro174Leu) c.695C>T (p.Pro232Leu) n.559C>T c.1871C>T (p.Pro624Leu) c.1673C>T (p.Pro558Leu) c.1646C>T (p.Pro549Leu) c.1700C>T (p.Pro567Leu) n.649C>T n.5980C>T c.1958C>T (p.Pro653Leu) c.1784C>T (p.Pro595Leu) c.1760C>T (p.Pro587Leu) c.893C>T (p.Pro298Leu) c.806C>T (p.Pro269Leu) c.719C>T (p.Pro240Leu) n.619C>T | |
17 | g.45996538A>C | CA500643998 | MAPT | c.609A>C (p.Pro203=) c.522A>C (p.Pro174=) c.696A>C (p.Pro232=) n.560A>C c.1872A>C (p.Pro624=) c.1674A>C (p.Pro558=) c.1647A>C (p.Pro549=) c.1701A>C (p.Pro567=) n.650A>C n.5981A>C c.1959A>C (p.Pro653=) c.1785A>C (p.Pro595=) c.1761A>C (p.Pro587=) c.894A>C (p.Pro298=) c.807A>C (p.Pro269=) c.720A>C (p.Pro240=) n.620A>C | |
17 | g.45996538A>G | CA500643996 | MAPT | c.609A>G (p.Pro203=) c.522A>G (p.Pro174=) c.696A>G (p.Pro232=) n.560A>G c.1872A>G (p.Pro624=) c.1674A>G (p.Pro558=) c.1647A>G (p.Pro549=) c.1701A>G (p.Pro567=) n.650A>G n.5981A>G c.1959A>G (p.Pro653=) c.1785A>G (p.Pro595=) c.1761A>G (p.Pro587=) c.894A>G (p.Pro298=) c.807A>G (p.Pro269=) c.720A>G (p.Pro240=) n.620A>G | |
17 | g.45996538A>T | CA500643997 | MAPT | c.609A>T (p.Pro203=) c.522A>T (p.Pro174=) c.696A>T (p.Pro232=) n.560A>T c.1872A>T (p.Pro624=) c.1674A>T (p.Pro558=) c.1647A>T (p.Pro549=) c.1701A>T (p.Pro567=) n.650A>T n.5981A>T c.1959A>T (p.Pro653=) c.1785A>T (p.Pro595=) c.1761A>T (p.Pro587=) c.894A>T (p.Pro298=) c.807A>T (p.Pro269=) c.720A>T (p.Pro240=) n.620A>T | |
17 | g.45996539C>A | CA399978212 | MAPT | c.610C>A (p.Pro204Thr) c.523C>A (p.Pro175Thr) c.697C>A (p.Pro233Thr) n.561C>A c.1873C>A (p.Pro625Thr) c.1675C>A (p.Pro559Thr) c.1648C>A (p.Pro550Thr) c.1702C>A (p.Pro568Thr) n.651C>A n.5982C>A c.1960C>A (p.Pro654Thr) c.1786C>A (p.Pro596Thr) c.1762C>A (p.Pro588Thr) c.895C>A (p.Pro299Thr) c.808C>A (p.Pro270Thr) c.721C>A (p.Pro241Thr) n.621C>A | ClinVar |
17 | g.45996539C>G | CA399978213 | MAPT | c.610C>G (p.Pro204Ala) c.523C>G (p.Pro175Ala) c.697C>G (p.Pro233Ala) n.561C>G c.1873C>G (p.Pro625Ala) c.1675C>G (p.Pro559Ala) c.1648C>G (p.Pro550Ala) c.1702C>G (p.Pro568Ala) n.651C>G n.5982C>G c.1960C>G (p.Pro654Ala) c.1786C>G (p.Pro596Ala) c.1762C>G (p.Pro588Ala) c.895C>G (p.Pro299Ala) c.808C>G (p.Pro270Ala) c.721C>G (p.Pro241Ala) n.621C>G | |
17 | g.45996539C>T | CA399978214 | MAPT | c.610C>T (p.Pro204Ser) c.523C>T (p.Pro175Ser) c.697C>T (p.Pro233Ser) n.561C>T c.1873C>T (p.Pro625Ser) c.1675C>T (p.Pro559Ser) c.1648C>T (p.Pro550Ser) c.1702C>T (p.Pro568Ser) n.651C>T n.5982C>T c.1960C>T (p.Pro654Ser) c.1786C>T (p.Pro596Ser) c.1762C>T (p.Pro588Ser) c.895C>T (p.Pro299Ser) c.808C>T (p.Pro270Ser) c.721C>T (p.Pro241Ser) n.621C>T | COSMIC COSMIC COSMIC |
17 | g.45996540C>A | CA399978215 | MAPT | c.611C>A (p.Pro204His) c.524C>A (p.Pro175His) c.698C>A (p.Pro233His) n.562C>A c.1874C>A (p.Pro625His) c.1676C>A (p.Pro559His) c.1649C>A (p.Pro550His) c.1703C>A (p.Pro568His) n.652C>A n.5983C>A c.1961C>A (p.Pro654His) c.1787C>A (p.Pro596His) c.1763C>A (p.Pro588His) c.896C>A (p.Pro299His) c.809C>A (p.Pro270His) c.722C>A (p.Pro241His) n.622C>A | |
17 | g.45996540C>G | CA399978216 | MAPT | c.611C>G (p.Pro204Arg) c.524C>G (p.Pro175Arg) c.698C>G (p.Pro233Arg) n.562C>G c.1874C>G (p.Pro625Arg) c.1676C>G (p.Pro559Arg) c.1649C>G (p.Pro550Arg) c.1703C>G (p.Pro568Arg) n.652C>G n.5983C>G c.1961C>G (p.Pro654Arg) c.1787C>G (p.Pro596Arg) c.1763C>G (p.Pro588Arg) c.896C>G (p.Pro299Arg) c.809C>G (p.Pro270Arg) c.722C>G (p.Pro241Arg) n.622C>G | |
17 | g.45996540C>T | CA399978217 | MAPT | c.611C>T (p.Pro204Leu) c.524C>T (p.Pro175Leu) c.698C>T (p.Pro233Leu) n.562C>T c.1874C>T (p.Pro625Leu) c.1676C>T (p.Pro559Leu) c.1649C>T (p.Pro550Leu) c.1703C>T (p.Pro568Leu) n.652C>T n.5983C>T c.1961C>T (p.Pro654Leu) c.1787C>T (p.Pro596Leu) c.1763C>T (p.Pro588Leu) c.896C>T (p.Pro299Leu) c.809C>T (p.Pro270Leu) c.722C>T (p.Pro241Leu) n.622C>T | |
17 | g.45996541C>A | CA500644000 | MAPT | c.612C>A (p.Pro204=) c.525C>A (p.Pro175=) c.699C>A (p.Pro233=) n.563C>A c.1875C>A (p.Pro625=) c.1677C>A (p.Pro559=) c.1650C>A (p.Pro550=) c.1704C>A (p.Pro568=) n.653C>A n.5984C>A c.1962C>A (p.Pro654=) c.1788C>A (p.Pro596=) c.1764C>A (p.Pro588=) c.897C>A (p.Pro299=) c.810C>A (p.Pro270=) c.723C>A (p.Pro241=) n.623C>A | |
17 | g.45996541C= | CA2262095009 | MAPT | c.612C= (p.Pro204=) c.525C= (p.Pro175=) c.699C= (p.Pro233=) n.563C= c.1875C= (p.Pro625=) c.1677C= (p.Pro559=) c.1650C= (p.Pro550=) c.1704C= (p.Pro568=) n.653C= n.5984C= c.1962C= (p.Pro654=) c.1788C= (p.Pro596=) c.1764C= (p.Pro588=) c.897C= (p.Pro299=) c.810C= (p.Pro270=) c.723C= (p.Pro241=) n.623C= | |
17 | g.45996541C>G | CA500643999 | MAPT | c.612C>G (p.Pro204=) c.525C>G (p.Pro175=) c.699C>G (p.Pro233=) n.563C>G c.1875C>G (p.Pro625=) c.1677C>G (p.Pro559=) c.1650C>G (p.Pro550=) c.1704C>G (p.Pro568=) n.653C>G n.5984C>G c.1962C>G (p.Pro654=) c.1788C>G (p.Pro596=) c.1764C>G (p.Pro588=) c.897C>G (p.Pro299=) c.810C>G (p.Pro270=) c.723C>G (p.Pro241=) n.623C>G | dbSNP |
17 | g.45996541C>T | CA500644001 | MAPT | c.612C>T (p.Pro204=) c.525C>T (p.Pro175=) c.699C>T (p.Pro233=) n.563C>T c.1875C>T (p.Pro625=) c.1677C>T (p.Pro559=) c.1650C>T (p.Pro550=) c.1704C>T (p.Pro568=) n.653C>T n.5984C>T c.1962C>T (p.Pro654=) c.1788C>T (p.Pro596=) c.1764C>T (p.Pro588=) c.897C>T (p.Pro299=) c.810C>T (p.Pro270=) c.723C>T (p.Pro241=) n.623C>T | dbSNP |
17 | g.45996542A>C | CA399978218 | MAPT | c.613A>C (p.Lys205Gln) c.526A>C (p.Lys176Gln) c.700A>C (p.Lys234Gln) n.564A>C c.1876A>C (p.Lys626Gln) c.1678A>C (p.Lys560Gln) c.1651A>C (p.Lys551Gln) c.1705A>C (p.Lys569Gln) n.654A>C n.5985A>C c.1963A>C (p.Lys655Gln) c.1789A>C (p.Lys597Gln) c.1765A>C (p.Lys589Gln) c.898A>C (p.Lys300Gln) c.811A>C (p.Lys271Gln) c.724A>C (p.Lys242Gln) n.624A>C | gnomAD v4 |
17 | g.45996542A>G | CA399978219 | MAPT | c.613A>G (p.Lys205Glu) c.526A>G (p.Lys176Glu) c.700A>G (p.Lys234Glu) n.564A>G c.1876A>G (p.Lys626Glu) c.1678A>G (p.Lys560Glu) c.1651A>G (p.Lys551Glu) c.1705A>G (p.Lys569Glu) n.654A>G n.5985A>G c.1963A>G (p.Lys655Glu) c.1789A>G (p.Lys597Glu) c.1765A>G (p.Lys589Glu) c.898A>G (p.Lys300Glu) c.811A>G (p.Lys271Glu) c.724A>G (p.Lys242Glu) n.624A>G | gnomAD v4 |
17 | g.45996542A>T | CA399978220 | MAPT | c.613A>T (p.Lys205Ter) c.526A>T (p.Lys176Ter) c.700A>T (p.Lys234Ter) n.564A>T c.1876A>T (p.Lys626Ter) c.1678A>T (p.Lys560Ter) c.1651A>T (p.Lys551Ter) c.1705A>T (p.Lys569Ter) n.654A>T n.5985A>T c.1963A>T (p.Lys655Ter) c.1789A>T (p.Lys597Ter) c.1765A>T (p.Lys589Ter) c.898A>T (p.Lys300Ter) c.811A>T (p.Lys271Ter) c.724A>T (p.Lys242Ter) n.624A>T | |
17 | g.45996543A>C | CA399978221 | MAPT | c.614A>C (p.Lys205Thr) c.527A>C (p.Lys176Thr) c.701A>C (p.Lys234Thr) n.565A>C c.1877A>C (p.Lys626Thr) c.1679A>C (p.Lys560Thr) c.1652A>C (p.Lys551Thr) c.1706A>C (p.Lys569Thr) n.655A>C n.5986A>C c.1964A>C (p.Lys655Thr) c.1790A>C (p.Lys597Thr) c.1766A>C (p.Lys589Thr) c.899A>C (p.Lys300Thr) c.812A>C (p.Lys271Thr) c.725A>C (p.Lys242Thr) n.625A>C | |
17 | g.45996543A>G | CA399978222 | MAPT | c.614A>G (p.Lys205Arg) c.527A>G (p.Lys176Arg) c.701A>G (p.Lys234Arg) n.565A>G c.1877A>G (p.Lys626Arg) c.1679A>G (p.Lys560Arg) c.1652A>G (p.Lys551Arg) c.1706A>G (p.Lys569Arg) n.655A>G n.5986A>G c.1964A>G (p.Lys655Arg) c.1790A>G (p.Lys597Arg) c.1766A>G (p.Lys589Arg) c.899A>G (p.Lys300Arg) c.812A>G (p.Lys271Arg) c.725A>G (p.Lys242Arg) n.625A>G | |
17 | g.45996543A>T | CA399978223 | MAPT | c.614A>T (p.Lys205Met) c.527A>T (p.Lys176Met) c.701A>T (p.Lys234Met) n.565A>T c.1877A>T (p.Lys626Met) c.1679A>T (p.Lys560Met) c.1652A>T (p.Lys551Met) c.1706A>T (p.Lys569Met) n.655A>T n.5986A>T c.1964A>T (p.Lys655Met) c.1790A>T (p.Lys597Met) c.1766A>T (p.Lys589Met) c.899A>T (p.Lys300Met) c.812A>T (p.Lys271Met) c.725A>T (p.Lys242Met) n.625A>T | |
17 | g.45996544G>A | CA291107186 | MAPT | c.615G>A (p.Lys205=) c.528G>A (p.Lys176=) c.702G>A (p.Lys234=) n.566G>A c.1878G>A (p.Lys626=) c.1680G>A (p.Lys560=) c.1653G>A (p.Lys551=) c.1707G>A (p.Lys569=) n.656G>A n.5987G>A c.1965G>A (p.Lys655=) c.1791G>A (p.Lys597=) c.1767G>A (p.Lys589=) c.900G>A (p.Lys300=) c.813G>A (p.Lys271=) c.726G>A (p.Lys242=) n.626G>A | dbSNP |
17 | g.45996544G>C | CA399978225 | MAPT | c.615G>C (p.Lys205Asn) c.528G>C (p.Lys176Asn) c.702G>C (p.Lys234Asn) n.566G>C c.1878G>C (p.Lys626Asn) c.1680G>C (p.Lys560Asn) c.1653G>C (p.Lys551Asn) c.1707G>C (p.Lys569Asn) n.656G>C n.5987G>C c.1965G>C (p.Lys655Asn) c.1791G>C (p.Lys597Asn) c.1767G>C (p.Lys589Asn) c.900G>C (p.Lys300Asn) c.813G>C (p.Lys271Asn) c.726G>C (p.Lys242Asn) n.626G>C | |
17 | g.45996544G= | CA2262095010 | MAPT | c.615G= (p.Lys205=) c.528G= (p.Lys176=) c.702G= (p.Lys234=) n.566G= c.1878G= (p.Lys626=) c.1680G= (p.Lys560=) c.1653G= (p.Lys551=) c.1707G= (p.Lys569=) n.656G= n.5987G= c.1965G= (p.Lys655=) c.1791G= (p.Lys597=) c.1767G= (p.Lys589=) c.900G= (p.Lys300=) c.813G= (p.Lys271=) c.726G= (p.Lys242=) n.626G= | |
17 | g.45996544G>T | CA399978224 | MAPT | c.615G>T (p.Lys205Asn) c.528G>T (p.Lys176Asn) c.702G>T (p.Lys234Asn) n.566G>T c.1878G>T (p.Lys626Asn) c.1680G>T (p.Lys560Asn) c.1653G>T (p.Lys551Asn) c.1707G>T (p.Lys569Asn) n.656G>T n.5987G>T c.1965G>T (p.Lys655Asn) c.1791G>T (p.Lys597Asn) c.1767G>T (p.Lys589Asn) c.900G>T (p.Lys300Asn) c.813G>T (p.Lys271Asn) c.726G>T (p.Lys242Asn) n.626G>T | |
17 | g.45996545T>A | CA399978226 | MAPT | c.616T>A (p.Ser206Thr) c.529T>A (p.Ser177Thr) c.703T>A (p.Ser235Thr) n.567T>A c.1879T>A (p.Ser627Thr) c.1681T>A (p.Ser561Thr) c.1654T>A (p.Ser552Thr) c.1708T>A (p.Ser570Thr) n.657T>A n.5988T>A c.1966T>A (p.Ser656Thr) c.1792T>A (p.Ser598Thr) c.1768T>A (p.Ser590Thr) c.901T>A (p.Ser301Thr) c.814T>A (p.Ser272Thr) c.727T>A (p.Ser243Thr) n.627T>A | |
17 | g.45996545T>C | CA399978227 | MAPT | c.616T>C (p.Ser206Pro) c.529T>C (p.Ser177Pro) c.703T>C (p.Ser235Pro) n.567T>C c.1879T>C (p.Ser627Pro) c.1681T>C (p.Ser561Pro) c.1654T>C (p.Ser552Pro) c.1708T>C (p.Ser570Pro) n.657T>C n.5988T>C c.1966T>C (p.Ser656Pro) c.1792T>C (p.Ser598Pro) c.1768T>C (p.Ser590Pro) c.901T>C (p.Ser301Pro) c.814T>C (p.Ser272Pro) c.727T>C (p.Ser243Pro) n.627T>C | |
17 | g.45996545T>G | CA399978228 | MAPT | c.616T>G (p.Ser206Ala) c.529T>G (p.Ser177Ala) c.703T>G (p.Ser235Ala) n.567T>G c.1879T>G (p.Ser627Ala) c.1681T>G (p.Ser561Ala) c.1654T>G (p.Ser552Ala) c.1708T>G (p.Ser570Ala) n.657T>G n.5988T>G c.1966T>G (p.Ser656Ala) c.1792T>G (p.Ser598Ala) c.1768T>G (p.Ser590Ala) c.901T>G (p.Ser301Ala) c.814T>G (p.Ser272Ala) c.727T>G (p.Ser243Ala) n.627T>G | |
17 | g.45996546C>A | CA399978229 | MAPT | c.617C>A (p.Ser206Ter) c.530C>A (p.Ser177Ter) c.704C>A (p.Ser235Ter) n.568C>A c.1880C>A (p.Ser627Ter) c.1682C>A (p.Ser561Ter) c.1655C>A (p.Ser552Ter) c.1709C>A (p.Ser570Ter) n.658C>A n.5989C>A c.1967C>A (p.Ser656Ter) c.1793C>A (p.Ser598Ter) c.1769C>A (p.Ser590Ter) c.902C>A (p.Ser301Ter) c.815C>A (p.Ser272Ter) c.728C>A (p.Ser243Ter) n.628C>A | |
17 | g.45996546C= | CA2262095011 | MAPT | c.617C= (p.Ser206=) c.530C= (p.Ser177=) c.704C= (p.Ser235=) n.568C= c.1880C= (p.Ser627=) c.1682C= (p.Ser561=) c.1655C= (p.Ser552=) c.1709C= (p.Ser570=) n.658C= n.5989C= c.1967C= (p.Ser656=) c.1793C= (p.Ser598=) c.1769C= (p.Ser590=) c.902C= (p.Ser301=) c.815C= (p.Ser272=) c.728C= (p.Ser243=) n.628C= | |
17 | g.45996546C>G | CA399978230 | MAPT | c.617C>G (p.Ser206Trp) c.530C>G (p.Ser177Trp) c.704C>G (p.Ser235Trp) n.568C>G c.1880C>G (p.Ser627Trp) c.1682C>G (p.Ser561Trp) c.1655C>G (p.Ser552Trp) c.1709C>G (p.Ser570Trp) n.658C>G n.5989C>G c.1967C>G (p.Ser656Trp) c.1793C>G (p.Ser598Trp) c.1769C>G (p.Ser590Trp) c.902C>G (p.Ser301Trp) c.815C>G (p.Ser272Trp) c.728C>G (p.Ser243Trp) n.628C>G | |
17 | g.45996546C>T | CA399978231 | MAPT | c.617C>T (p.Ser206Leu) c.530C>T (p.Ser177Leu) c.704C>T (p.Ser235Leu) n.568C>T c.1880C>T (p.Ser627Leu) c.1682C>T (p.Ser561Leu) c.1655C>T (p.Ser552Leu) c.1709C>T (p.Ser570Leu) n.658C>T n.5989C>T c.1967C>T (p.Ser656Leu) c.1793C>T (p.Ser598Leu) c.1769C>T (p.Ser590Leu) c.902C>T (p.Ser301Leu) c.815C>T (p.Ser272Leu) c.728C>T (p.Ser243Leu) n.628C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996547G>A | CA8618050 | MAPT | c.618G>A (p.Ser206=) c.531G>A (p.Ser177=) c.705G>A (p.Ser235=) n.569G>A c.1881G>A (p.Ser627=) c.1683G>A (p.Ser561=) c.1656G>A (p.Ser552=) c.1710G>A (p.Ser570=) n.659G>A n.5990G>A c.1968G>A (p.Ser656=) c.1794G>A (p.Ser598=) c.1770G>A (p.Ser590=) c.903G>A (p.Ser301=) c.816G>A (p.Ser272=) c.729G>A (p.Ser243=) n.629G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.45996547G>C | CA500644002 | MAPT | c.618G>C (p.Ser206=) c.531G>C (p.Ser177=) c.705G>C (p.Ser235=) n.569G>C c.1881G>C (p.Ser627=) c.1683G>C (p.Ser561=) c.1656G>C (p.Ser552=) c.1710G>C (p.Ser570=) n.659G>C n.5990G>C c.1968G>C (p.Ser656=) c.1794G>C (p.Ser598=) c.1770G>C (p.Ser590=) c.903G>C (p.Ser301=) c.816G>C (p.Ser272=) c.729G>C (p.Ser243=) n.629G>C | |
17 | g.45996547G= | CA2262095012 | MAPT | c.618G= (p.Ser206=) c.531G= (p.Ser177=) c.705G= (p.Ser235=) n.569G= c.1881G= (p.Ser627=) c.1683G= (p.Ser561=) c.1656G= (p.Ser552=) c.1710G= (p.Ser570=) n.659G= n.5990G= c.1968G= (p.Ser656=) c.1794G= (p.Ser598=) c.1770G= (p.Ser590=) c.903G= (p.Ser301=) c.816G= (p.Ser272=) c.729G= (p.Ser243=) n.629G= | |
17 | g.45996547G>T | CA500644003 | MAPT | c.618G>T (p.Ser206=) c.531G>T (p.Ser177=) c.705G>T (p.Ser235=) n.569G>T c.1881G>T (p.Ser627=) c.1683G>T (p.Ser561=) c.1656G>T (p.Ser552=) c.1710G>T (p.Ser570=) n.659G>T n.5990G>T c.1968G>T (p.Ser656=) c.1794G>T (p.Ser598=) c.1770G>T (p.Ser590=) c.903G>T (p.Ser301=) c.816G>T (p.Ser272=) c.729G>T (p.Ser243=) n.629G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996548C>A | CA399978232 | MAPT | c.619C>A (p.Pro207Thr) c.532C>A (p.Pro178Thr) c.706C>A (p.Pro236Thr) n.570C>A c.1882C>A (p.Pro628Thr) c.1684C>A (p.Pro562Thr) c.1657C>A (p.Pro553Thr) c.1711C>A (p.Pro571Thr) n.660C>A n.5991C>A c.1969C>A (p.Pro657Thr) c.1795C>A (p.Pro599Thr) c.1771C>A (p.Pro591Thr) c.904C>A (p.Pro302Thr) c.817C>A (p.Pro273Thr) c.730C>A (p.Pro244Thr) n.630C>A | |
17 | g.45996548C>G | CA399978234 | MAPT | c.619C>G (p.Pro207Ala) c.532C>G (p.Pro178Ala) c.706C>G (p.Pro236Ala) n.570C>G c.1882C>G (p.Pro628Ala) c.1684C>G (p.Pro562Ala) c.1657C>G (p.Pro553Ala) c.1711C>G (p.Pro571Ala) n.660C>G n.5991C>G c.1969C>G (p.Pro657Ala) c.1795C>G (p.Pro599Ala) c.1771C>G (p.Pro591Ala) c.904C>G (p.Pro302Ala) c.817C>G (p.Pro273Ala) c.730C>G (p.Pro244Ala) n.630C>G | |
17 | g.45996548C>T | CA399978233 | MAPT | c.619C>T (p.Pro207Ser) c.532C>T (p.Pro178Ser) c.706C>T (p.Pro236Ser) n.570C>T c.1882C>T (p.Pro628Ser) c.1684C>T (p.Pro562Ser) c.1657C>T (p.Pro553Ser) c.1711C>T (p.Pro571Ser) n.660C>T n.5991C>T c.1969C>T (p.Pro657Ser) c.1795C>T (p.Pro599Ser) c.1771C>T (p.Pro591Ser) c.904C>T (p.Pro302Ser) c.817C>T (p.Pro273Ser) c.730C>T (p.Pro244Ser) n.630C>T | |
17 | g.45996549C>A | CA399978235 | MAPT | c.620C>A (p.Pro207Gln) c.533C>A (p.Pro178Gln) c.707C>A (p.Pro236Gln) n.571C>A c.1883C>A (p.Pro628Gln) c.1685C>A (p.Pro562Gln) c.1658C>A (p.Pro553Gln) c.1712C>A (p.Pro571Gln) n.661C>A n.5992C>A c.1970C>A (p.Pro657Gln) c.1796C>A (p.Pro599Gln) c.1772C>A (p.Pro591Gln) c.905C>A (p.Pro302Gln) c.818C>A (p.Pro273Gln) c.731C>A (p.Pro244Gln) n.631C>A | gnomAD v4 |
17 | g.45996549C= | CA2262095013 | MAPT | c.620C= (p.Pro207=) c.533C= (p.Pro178=) c.707C= (p.Pro236=) n.571C= c.1883C= (p.Pro628=) c.1685C= (p.Pro562=) c.1658C= (p.Pro553=) c.1712C= (p.Pro571=) n.661C= n.5992C= c.1970C= (p.Pro657=) c.1796C= (p.Pro599=) c.1772C= (p.Pro591=) c.905C= (p.Pro302=) c.818C= (p.Pro273=) c.731C= (p.Pro244=) n.631C= | |
17 | g.45996549C>G | CA399978236 | MAPT | c.620C>G (p.Pro207Arg) c.533C>G (p.Pro178Arg) c.707C>G (p.Pro236Arg) n.571C>G c.1883C>G (p.Pro628Arg) c.1685C>G (p.Pro562Arg) c.1658C>G (p.Pro553Arg) c.1712C>G (p.Pro571Arg) n.661C>G n.5992C>G c.1970C>G (p.Pro657Arg) c.1796C>G (p.Pro599Arg) c.1772C>G (p.Pro591Arg) c.905C>G (p.Pro302Arg) c.818C>G (p.Pro273Arg) c.731C>G (p.Pro244Arg) n.631C>G | COSMIC COSMIC COSMIC |
17 | g.45996549C>T | CA399978237 | MAPT | c.620C>T (p.Pro207Leu) c.533C>T (p.Pro178Leu) c.707C>T (p.Pro236Leu) n.571C>T c.1883C>T (p.Pro628Leu) c.1685C>T (p.Pro562Leu) c.1658C>T (p.Pro553Leu) c.1712C>T (p.Pro571Leu) n.661C>T n.5992C>T c.1970C>T (p.Pro657Leu) c.1796C>T (p.Pro599Leu) c.1772C>T (p.Pro591Leu) c.905C>T (p.Pro302Leu) c.818C>T (p.Pro273Leu) c.731C>T (p.Pro244Leu) n.631C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.45996550G>A | CA8618051 | MAPT | c.621G>A (p.Pro207=) c.534G>A (p.Pro178=) c.708G>A (p.Pro236=) n.572G>A c.1884G>A (p.Pro628=) c.1686G>A (p.Pro562=) c.1659G>A (p.Pro553=) c.1713G>A (p.Pro571=) n.662G>A n.5993G>A c.1971G>A (p.Pro657=) c.1797G>A (p.Pro599=) c.1773G>A (p.Pro591=) c.906G>A (p.Pro302=) c.819G>A (p.Pro273=) c.732G>A (p.Pro244=) n.632G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996550G>C | CA500644005 | MAPT | c.621G>C (p.Pro207=) c.534G>C (p.Pro178=) c.708G>C (p.Pro236=) n.572G>C c.1884G>C (p.Pro628=) c.1686G>C (p.Pro562=) c.1659G>C (p.Pro553=) c.1713G>C (p.Pro571=) n.662G>C n.5993G>C c.1971G>C (p.Pro657=) c.1797G>C (p.Pro599=) c.1773G>C (p.Pro591=) c.906G>C (p.Pro302=) c.819G>C (p.Pro273=) c.732G>C (p.Pro244=) n.632G>C | gnomAD v4 |
17 | g.45996550G= | CA2262095014 | MAPT | c.621G= (p.Pro207=) c.534G= (p.Pro178=) c.708G= (p.Pro236=) n.572G= c.1884G= (p.Pro628=) c.1686G= (p.Pro562=) c.1659G= (p.Pro553=) c.1713G= (p.Pro571=) n.662G= n.5993G= c.1971G= (p.Pro657=) c.1797G= (p.Pro599=) c.1773G= (p.Pro591=) c.906G= (p.Pro302=) c.819G= (p.Pro273=) c.732G= (p.Pro244=) n.632G= | |
17 | g.45996550G>T | CA500644004 | MAPT | c.621G>T (p.Pro207=) c.534G>T (p.Pro178=) c.708G>T (p.Pro236=) n.572G>T c.1884G>T (p.Pro628=) c.1686G>T (p.Pro562=) c.1659G>T (p.Pro553=) c.1713G>T (p.Pro571=) n.662G>T n.5993G>T c.1971G>T (p.Pro657=) c.1797G>T (p.Pro599=) c.1773G>T (p.Pro591=) c.906G>T (p.Pro302=) c.819G>T (p.Pro273=) c.732G>T (p.Pro244=) n.632G>T | |
17 | g.45996551T>A | CA399978238 | MAPT | c.622T>A (p.Ser208Thr) c.535T>A (p.Ser179Thr) c.709T>A (p.Ser237Thr) n.573T>A c.1885T>A (p.Ser629Thr) c.1687T>A (p.Ser563Thr) c.1660T>A (p.Ser554Thr) c.1714T>A (p.Ser572Thr) n.663T>A n.5994T>A c.1972T>A (p.Ser658Thr) c.1798T>A (p.Ser600Thr) c.1774T>A (p.Ser592Thr) c.907T>A (p.Ser303Thr) c.820T>A (p.Ser274Thr) c.733T>A (p.Ser245Thr) n.633T>A | |
17 | g.45996551T>C | CA399978240 | MAPT | c.622T>C (p.Ser208Pro) c.535T>C (p.Ser179Pro) c.709T>C (p.Ser237Pro) n.573T>C c.1885T>C (p.Ser629Pro) c.1687T>C (p.Ser563Pro) c.1660T>C (p.Ser554Pro) c.1714T>C (p.Ser572Pro) n.663T>C n.5994T>C c.1972T>C (p.Ser658Pro) c.1798T>C (p.Ser600Pro) c.1774T>C (p.Ser592Pro) c.907T>C (p.Ser303Pro) c.820T>C (p.Ser274Pro) c.733T>C (p.Ser245Pro) n.633T>C | |
17 | g.45996551T>G | CA399978239 | MAPT | c.622T>G (p.Ser208Ala) c.535T>G (p.Ser179Ala) c.709T>G (p.Ser237Ala) n.573T>G c.1885T>G (p.Ser629Ala) c.1687T>G (p.Ser563Ala) c.1660T>G (p.Ser554Ala) c.1714T>G (p.Ser572Ala) n.663T>G n.5994T>G c.1972T>G (p.Ser658Ala) c.1798T>G (p.Ser600Ala) c.1774T>G (p.Ser592Ala) c.907T>G (p.Ser303Ala) c.820T>G (p.Ser274Ala) c.733T>G (p.Ser245Ala) n.633T>G | |
17 | g.45996552C>A | CA399978241 | MAPT | c.623C>A (p.Ser208Tyr) c.536C>A (p.Ser179Tyr) c.710C>A (p.Ser237Tyr) n.574C>A c.1886C>A (p.Ser629Tyr) c.1688C>A (p.Ser563Tyr) c.1661C>A (p.Ser554Tyr) c.1715C>A (p.Ser572Tyr) n.664C>A n.5995C>A c.1973C>A (p.Ser658Tyr) c.1799C>A (p.Ser600Tyr) c.1775C>A (p.Ser592Tyr) c.908C>A (p.Ser303Tyr) c.821C>A (p.Ser274Tyr) c.734C>A (p.Ser245Tyr) n.634C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996552C= | CA2262095015 | MAPT | c.623C= (p.Ser208=) c.536C= (p.Ser179=) c.710C= (p.Ser237=) n.574C= c.1886C= (p.Ser629=) c.1688C= (p.Ser563=) c.1661C= (p.Ser554=) c.1715C= (p.Ser572=) n.664C= n.5995C= c.1973C= (p.Ser658=) c.1799C= (p.Ser600=) c.1775C= (p.Ser592=) c.908C= (p.Ser303=) c.821C= (p.Ser274=) c.734C= (p.Ser245=) n.634C= | |
17 | g.45996552C>G | CA399978242 | MAPT | c.623C>G (p.Ser208Cys) c.536C>G (p.Ser179Cys) c.710C>G (p.Ser237Cys) n.574C>G c.1886C>G (p.Ser629Cys) c.1688C>G (p.Ser563Cys) c.1661C>G (p.Ser554Cys) c.1715C>G (p.Ser572Cys) n.664C>G n.5995C>G c.1973C>G (p.Ser658Cys) c.1799C>G (p.Ser600Cys) c.1775C>G (p.Ser592Cys) c.908C>G (p.Ser303Cys) c.821C>G (p.Ser274Cys) c.734C>G (p.Ser245Cys) n.634C>G | gnomAD v4 |
17 | g.45996552C>T | CA399978243 | MAPT | c.623C>T (p.Ser208Phe) c.536C>T (p.Ser179Phe) c.710C>T (p.Ser237Phe) n.574C>T c.1886C>T (p.Ser629Phe) c.1688C>T (p.Ser563Phe) c.1661C>T (p.Ser554Phe) c.1715C>T (p.Ser572Phe) n.664C>T n.5995C>T c.1973C>T (p.Ser658Phe) c.1799C>T (p.Ser600Phe) c.1775C>T (p.Ser592Phe) c.908C>T (p.Ser303Phe) c.821C>T (p.Ser274Phe) c.734C>T (p.Ser245Phe) n.634C>T | |
17 | g.45996553T>A | CA500644007 | MAPT | c.624T>A (p.Ser208=) c.537T>A (p.Ser179=) c.711T>A (p.Ser237=) n.575T>A c.1887T>A (p.Ser629=) c.1689T>A (p.Ser563=) c.1662T>A (p.Ser554=) c.1716T>A (p.Ser572=) n.665T>A n.5996T>A c.1974T>A (p.Ser658=) c.1800T>A (p.Ser600=) c.1776T>A (p.Ser592=) c.909T>A (p.Ser303=) c.822T>A (p.Ser274=) c.735T>A (p.Ser245=) n.635T>A | |
17 | g.45996553T>C | CA500644006 | MAPT | c.624T>C (p.Ser208=) c.537T>C (p.Ser179=) c.711T>C (p.Ser237=) n.575T>C c.1887T>C (p.Ser629=) c.1689T>C (p.Ser563=) c.1662T>C (p.Ser554=) c.1716T>C (p.Ser572=) n.665T>C n.5996T>C c.1974T>C (p.Ser658=) c.1800T>C (p.Ser600=) c.1776T>C (p.Ser592=) c.909T>C (p.Ser303=) c.822T>C (p.Ser274=) c.735T>C (p.Ser245=) n.635T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996553T>G | CA500644008 | MAPT | c.624T>G (p.Ser208=) c.537T>G (p.Ser179=) c.711T>G (p.Ser237=) n.575T>G c.1887T>G (p.Ser629=) c.1689T>G (p.Ser563=) c.1662T>G (p.Ser554=) c.1716T>G (p.Ser572=) n.665T>G n.5996T>G c.1974T>G (p.Ser658=) c.1800T>G (p.Ser600=) c.1776T>G (p.Ser592=) c.909T>G (p.Ser303=) c.822T>G (p.Ser274=) c.735T>G (p.Ser245=) n.635T>G | |
17 | g.45996553T= | CA2262095016 | MAPT | c.624T= (p.Ser208=) c.537T= (p.Ser179=) c.711T= (p.Ser237=) n.575T= c.1887T= (p.Ser629=) c.1689T= (p.Ser563=) c.1662T= (p.Ser554=) c.1716T= (p.Ser572=) n.665T= n.5996T= c.1974T= (p.Ser658=) c.1800T= (p.Ser600=) c.1776T= (p.Ser592=) c.909T= (p.Ser303=) c.822T= (p.Ser274=) c.735T= (p.Ser245=) n.635T= | |
17 | g.45996554T>A | CA399978244 | MAPT | c.625T>A (p.Ser209Thr) c.538T>A (p.Ser180Thr) c.712T>A (p.Ser238Thr) n.576T>A c.1888T>A (p.Ser630Thr) c.1690T>A (p.Ser564Thr) c.1663T>A (p.Ser555Thr) c.1717T>A (p.Ser573Thr) n.666T>A n.5997T>A c.1975T>A (p.Ser659Thr) c.1801T>A (p.Ser601Thr) c.1777T>A (p.Ser593Thr) c.910T>A (p.Ser304Thr) c.823T>A (p.Ser275Thr) c.736T>A (p.Ser246Thr) n.636T>A | |
17 | g.45996554T>C | CA399978245 | MAPT | c.625T>C (p.Ser209Pro) c.538T>C (p.Ser180Pro) c.712T>C (p.Ser238Pro) n.576T>C c.1888T>C (p.Ser630Pro) c.1690T>C (p.Ser564Pro) c.1663T>C (p.Ser555Pro) c.1717T>C (p.Ser573Pro) n.666T>C n.5997T>C c.1975T>C (p.Ser659Pro) c.1801T>C (p.Ser601Pro) c.1777T>C (p.Ser593Pro) c.910T>C (p.Ser304Pro) c.823T>C (p.Ser275Pro) c.736T>C (p.Ser246Pro) n.636T>C | |
17 | g.45996554T>G | CA399978246 | MAPT | c.625T>G (p.Ser209Ala) c.538T>G (p.Ser180Ala) c.712T>G (p.Ser238Ala) n.576T>G c.1888T>G (p.Ser630Ala) c.1690T>G (p.Ser564Ala) c.1663T>G (p.Ser555Ala) c.1717T>G (p.Ser573Ala) n.666T>G n.5997T>G c.1975T>G (p.Ser659Ala) c.1801T>G (p.Ser601Ala) c.1777T>G (p.Ser593Ala) c.910T>G (p.Ser304Ala) c.823T>G (p.Ser275Ala) c.736T>G (p.Ser246Ala) n.636T>G | |
17 | g.45996555C>A | CA399978247 | MAPT | c.626C>A (p.Ser209Tyr) c.539C>A (p.Ser180Tyr) c.713C>A (p.Ser238Tyr) n.577C>A c.1889C>A (p.Ser630Tyr) c.1691C>A (p.Ser564Tyr) c.1664C>A (p.Ser555Tyr) c.1718C>A (p.Ser573Tyr) n.667C>A n.5998C>A c.1976C>A (p.Ser659Tyr) c.1802C>A (p.Ser601Tyr) c.1778C>A (p.Ser593Tyr) c.911C>A (p.Ser304Tyr) c.824C>A (p.Ser275Tyr) c.737C>A (p.Ser246Tyr) n.637C>A | gnomAD v4 |
17 | g.45996555C>G | CA399978248 | MAPT | c.626C>G (p.Ser209Cys) c.539C>G (p.Ser180Cys) c.713C>G (p.Ser238Cys) n.577C>G c.1889C>G (p.Ser630Cys) c.1691C>G (p.Ser564Cys) c.1664C>G (p.Ser555Cys) c.1718C>G (p.Ser573Cys) n.667C>G n.5998C>G c.1976C>G (p.Ser659Cys) c.1802C>G (p.Ser601Cys) c.1778C>G (p.Ser593Cys) c.911C>G (p.Ser304Cys) c.824C>G (p.Ser275Cys) c.737C>G (p.Ser246Cys) n.637C>G | |
17 | g.45996555C>T | CA399978249 | MAPT | c.626C>T (p.Ser209Phe) c.539C>T (p.Ser180Phe) c.713C>T (p.Ser238Phe) n.577C>T c.1889C>T (p.Ser630Phe) c.1691C>T (p.Ser564Phe) c.1664C>T (p.Ser555Phe) c.1718C>T (p.Ser573Phe) n.667C>T n.5998C>T c.1976C>T (p.Ser659Phe) c.1802C>T (p.Ser601Phe) c.1778C>T (p.Ser593Phe) c.911C>T (p.Ser304Phe) c.824C>T (p.Ser275Phe) c.737C>T (p.Ser246Phe) n.637C>T | |
17 | g.45996556C>A | CA500644009 | MAPT | c.627C>A (p.Ser209=) c.540C>A (p.Ser180=) c.714C>A (p.Ser238=) n.578C>A c.1890C>A (p.Ser630=) c.1692C>A (p.Ser564=) c.1665C>A (p.Ser555=) c.1719C>A (p.Ser573=) n.668C>A n.5999C>A c.1977C>A (p.Ser659=) c.1803C>A (p.Ser601=) c.1779C>A (p.Ser593=) c.912C>A (p.Ser304=) c.825C>A (p.Ser275=) c.738C>A (p.Ser246=) n.638C>A | COSMIC COSMIC COSMIC |
17 | g.45996556C= | CA2262095017 | MAPT | c.627C= (p.Ser209=) c.540C= (p.Ser180=) c.714C= (p.Ser238=) n.578C= c.1890C= (p.Ser630=) c.1692C= (p.Ser564=) c.1665C= (p.Ser555=) c.1719C= (p.Ser573=) n.668C= n.5999C= c.1977C= (p.Ser659=) c.1803C= (p.Ser601=) c.1779C= (p.Ser593=) c.912C= (p.Ser304=) c.825C= (p.Ser275=) c.738C= (p.Ser246=) n.638C= | |
17 | g.45996556C>G | CA500644010 | MAPT | c.627C>G (p.Ser209=) c.540C>G (p.Ser180=) c.714C>G (p.Ser238=) n.578C>G c.1890C>G (p.Ser630=) c.1692C>G (p.Ser564=) c.1665C>G (p.Ser555=) c.1719C>G (p.Ser573=) n.668C>G n.5999C>G c.1977C>G (p.Ser659=) c.1803C>G (p.Ser601=) c.1779C>G (p.Ser593=) c.912C>G (p.Ser304=) c.825C>G (p.Ser275=) c.738C>G (p.Ser246=) n.638C>G | |
17 | g.45996556C>T | CA8618052 | MAPT | c.627C>T (p.Ser209=) c.540C>T (p.Ser180=) c.714C>T (p.Ser238=) n.578C>T c.1890C>T (p.Ser630=) c.1692C>T (p.Ser564=) c.1665C>T (p.Ser555=) c.1719C>T (p.Ser573=) n.668C>T n.5999C>T c.1977C>T (p.Ser659=) c.1803C>T (p.Ser601=) c.1779C>T (p.Ser593=) c.912C>T (p.Ser304=) c.825C>T (p.Ser275=) c.738C>T (p.Ser246=) n.638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.45996557del | CA2733872194 | MAPT | c.628del (p.Ala210ProfsTer15) c.541del (p.Ala181ProfsTer15) c.715del (p.Ala239ProfsTer15) n.579del c.1891del (p.Ala631ProfsTer15) c.1693del (p.Ala565ProfsTer15) c.1666del (p.Ala556ProfsTer15) c.1720del (p.Ala574ProfsTer15) n.669del n.6000del c.1978del (p.Ala660ProfsTer15) c.1804del (p.Ala602ProfsTer15) c.1780del (p.Ala594ProfsTer15) c.913del (p.Ala305ProfsTer15) c.826del (p.Ala276ProfsTer15) c.739del (p.Ala247ProfsTer15) n.639del | dbSNP |
17 | g.45996557G>A | CA225409 | MAPT | c.628G>A (p.Ala210Thr) c.541G>A (p.Ala181Thr) c.715G>A (p.Ala239Thr) n.579G>A c.1891G>A (p.Ala631Thr) c.1693G>A (p.Ala565Thr) c.1666G>A (p.Ala556Thr) c.1720G>A (p.Ala574Thr) n.669G>A n.6000G>A c.1978G>A (p.Ala660Thr) c.1804G>A (p.Ala602Thr) c.1780G>A (p.Ala594Thr) c.913G>A (p.Ala305Thr) c.826G>A (p.Ala276Thr) c.739G>A (p.Ala247Thr) n.639G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996557G>C | CA399978250 | MAPT | c.628G>C (p.Ala210Pro) c.541G>C (p.Ala181Pro) c.715G>C (p.Ala239Pro) n.579G>C c.1891G>C (p.Ala631Pro) c.1693G>C (p.Ala565Pro) c.1666G>C (p.Ala556Pro) c.1720G>C (p.Ala574Pro) n.669G>C n.6000G>C c.1978G>C (p.Ala660Pro) c.1804G>C (p.Ala602Pro) c.1780G>C (p.Ala594Pro) c.913G>C (p.Ala305Pro) c.826G>C (p.Ala276Pro) c.739G>C (p.Ala247Pro) n.639G>C | |
17 | g.45996557G= | CA2262095018 | MAPT | c.628G= (p.Ala210=) c.541G= (p.Ala181=) c.715G= (p.Ala239=) n.579G= c.1891G= (p.Ala631=) c.1693G= (p.Ala565=) c.1666G= (p.Ala556=) c.1720G= (p.Ala574=) n.669G= n.6000G= c.1978G= (p.Ala660=) c.1804G= (p.Ala602=) c.1780G= (p.Ala594=) c.913G= (p.Ala305=) c.826G= (p.Ala276=) c.739G= (p.Ala247=) n.639G= | |
17 | g.45996557G>T | CA8618053 | MAPT | c.628G>T (p.Ala210Ser) c.541G>T (p.Ala181Ser) c.715G>T (p.Ala239Ser) n.579G>T c.1891G>T (p.Ala631Ser) c.1693G>T (p.Ala565Ser) c.1666G>T (p.Ala556Ser) c.1720G>T (p.Ala574Ser) n.669G>T n.6000G>T c.1978G>T (p.Ala660Ser) c.1804G>T (p.Ala602Ser) c.1780G>T (p.Ala594Ser) c.913G>T (p.Ala305Ser) c.826G>T (p.Ala276Ser) c.739G>T (p.Ala247Ser) n.639G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996558C>A | CA399978252 | MAPT | c.629C>A (p.Ala210Asp) c.542C>A (p.Ala181Asp) c.716C>A (p.Ala239Asp) n.580C>A c.1892C>A (p.Ala631Asp) c.1694C>A (p.Ala565Asp) c.1667C>A (p.Ala556Asp) c.1721C>A (p.Ala574Asp) n.670C>A n.6001C>A c.1979C>A (p.Ala660Asp) c.1805C>A (p.Ala602Asp) c.1781C>A (p.Ala594Asp) c.914C>A (p.Ala305Asp) c.827C>A (p.Ala276Asp) c.740C>A (p.Ala247Asp) n.640C>A | |
17 | g.45996558C= | CA2262095019 | MAPT | c.629C= (p.Ala210=) c.542C= (p.Ala181=) c.716C= (p.Ala239=) n.580C= c.1892C= (p.Ala631=) c.1694C= (p.Ala565=) c.1667C= (p.Ala556=) c.1721C= (p.Ala574=) n.670C= n.6001C= c.1979C= (p.Ala660=) c.1805C= (p.Ala602=) c.1781C= (p.Ala594=) c.914C= (p.Ala305=) c.827C= (p.Ala276=) c.740C= (p.Ala247=) n.640C= | |
17 | g.45996558C>G | CA399978253 | MAPT | c.629C>G (p.Ala210Gly) c.542C>G (p.Ala181Gly) c.716C>G (p.Ala239Gly) n.580C>G c.1892C>G (p.Ala631Gly) c.1694C>G (p.Ala565Gly) c.1667C>G (p.Ala556Gly) c.1721C>G (p.Ala574Gly) n.670C>G n.6001C>G c.1979C>G (p.Ala660Gly) c.1805C>G (p.Ala602Gly) c.1781C>G (p.Ala594Gly) c.914C>G (p.Ala305Gly) c.827C>G (p.Ala276Gly) c.740C>G (p.Ala247Gly) n.640C>G | |
17 | g.45996558C>T | CA399978251 | MAPT | c.629C>T (p.Ala210Val) c.542C>T (p.Ala181Val) c.716C>T (p.Ala239Val) n.580C>T c.1892C>T (p.Ala631Val) c.1694C>T (p.Ala565Val) c.1667C>T (p.Ala556Val) c.1721C>T (p.Ala574Val) n.670C>T n.6001C>T c.1979C>T (p.Ala660Val) c.1805C>T (p.Ala602Val) c.1781C>T (p.Ala594Val) c.914C>T (p.Ala305Val) c.827C>T (p.Ala276Val) c.740C>T (p.Ala247Val) n.640C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996559C>A | CA500644011 | MAPT | c.630C>A (p.Ala210=) c.543C>A (p.Ala181=) c.717C>A (p.Ala239=) n.581C>A c.1893C>A (p.Ala631=) c.1695C>A (p.Ala565=) c.1668C>A (p.Ala556=) c.1722C>A (p.Ala574=) n.671C>A n.6002C>A c.1980C>A (p.Ala660=) c.1806C>A (p.Ala602=) c.1782C>A (p.Ala594=) c.915C>A (p.Ala305=) c.828C>A (p.Ala276=) c.741C>A (p.Ala247=) n.641C>A | |
17 | g.45996559C>G | CA500644013 | MAPT | c.630C>G (p.Ala210=) c.543C>G (p.Ala181=) c.717C>G (p.Ala239=) n.581C>G c.1893C>G (p.Ala631=) c.1695C>G (p.Ala565=) c.1668C>G (p.Ala556=) c.1722C>G (p.Ala574=) n.671C>G n.6002C>G c.1980C>G (p.Ala660=) c.1806C>G (p.Ala602=) c.1782C>G (p.Ala594=) c.915C>G (p.Ala305=) c.828C>G (p.Ala276=) c.741C>G (p.Ala247=) n.641C>G | |
17 | g.45996559C>T | CA500644012 | MAPT | c.630C>T (p.Ala210=) c.543C>T (p.Ala181=) c.717C>T (p.Ala239=) n.581C>T c.1893C>T (p.Ala631=) c.1695C>T (p.Ala565=) c.1668C>T (p.Ala556=) c.1722C>T (p.Ala574=) n.671C>T n.6002C>T c.1980C>T (p.Ala660=) c.1806C>T (p.Ala602=) c.1782C>T (p.Ala594=) c.915C>T (p.Ala305=) c.828C>T (p.Ala276=) c.741C>T (p.Ala247=) n.641C>T | |
17 | g.45996560A>C | CA399978254 | MAPT | c.631A>C (p.Lys211Gln) c.544A>C (p.Lys182Gln) c.718A>C (p.Lys240Gln) n.582A>C c.1894A>C (p.Lys632Gln) c.1696A>C (p.Lys566Gln) c.1669A>C (p.Lys557Gln) c.1723A>C (p.Lys575Gln) n.672A>C n.6003A>C c.1981A>C (p.Lys661Gln) c.1807A>C (p.Lys603Gln) c.1783A>C (p.Lys595Gln) c.916A>C (p.Lys306Gln) c.829A>C (p.Lys277Gln) c.742A>C (p.Lys248Gln) n.642A>C | |
17 | g.45996560A>G | CA399978256 | MAPT | c.631A>G (p.Lys211Glu) c.544A>G (p.Lys182Glu) c.718A>G (p.Lys240Glu) n.582A>G c.1894A>G (p.Lys632Glu) c.1696A>G (p.Lys566Glu) c.1669A>G (p.Lys557Glu) c.1723A>G (p.Lys575Glu) n.672A>G n.6003A>G c.1981A>G (p.Lys661Glu) c.1807A>G (p.Lys603Glu) c.1783A>G (p.Lys595Glu) c.916A>G (p.Lys306Glu) c.829A>G (p.Lys277Glu) c.742A>G (p.Lys248Glu) n.642A>G | |
17 | g.45996560A>T | CA399978255 | MAPT | c.631A>T (p.Lys211Ter) c.544A>T (p.Lys182Ter) c.718A>T (p.Lys240Ter) n.582A>T c.1894A>T (p.Lys632Ter) c.1696A>T (p.Lys566Ter) c.1669A>T (p.Lys557Ter) c.1723A>T (p.Lys575Ter) n.672A>T n.6003A>T c.1981A>T (p.Lys661Ter) c.1807A>T (p.Lys603Ter) c.1783A>T (p.Lys595Ter) c.916A>T (p.Lys306Ter) c.829A>T (p.Lys277Ter) c.742A>T (p.Lys248Ter) n.642A>T | |
17 | g.45996561A>C | CA399978257 | MAPT | c.632A>C (p.Lys211Thr) c.545A>C (p.Lys182Thr) c.719A>C (p.Lys240Thr) n.583A>C c.1895A>C (p.Lys632Thr) c.1697A>C (p.Lys566Thr) c.1670A>C (p.Lys557Thr) c.1724A>C (p.Lys575Thr) n.673A>C n.6004A>C c.1982A>C (p.Lys661Thr) c.1808A>C (p.Lys603Thr) c.1784A>C (p.Lys595Thr) c.917A>C (p.Lys306Thr) c.830A>C (p.Lys277Thr) c.743A>C (p.Lys248Thr) n.643A>C | |
17 | g.45996561A>G | CA399978259 | MAPT | c.632A>G (p.Lys211Arg) c.545A>G (p.Lys182Arg) c.719A>G (p.Lys240Arg) n.583A>G c.1895A>G (p.Lys632Arg) c.1697A>G (p.Lys566Arg) c.1670A>G (p.Lys557Arg) c.1724A>G (p.Lys575Arg) n.673A>G n.6004A>G c.1982A>G (p.Lys661Arg) c.1808A>G (p.Lys603Arg) c.1784A>G (p.Lys595Arg) c.917A>G (p.Lys306Arg) c.830A>G (p.Lys277Arg) c.743A>G (p.Lys248Arg) n.643A>G | gnomAD v4 |
17 | g.45996561A>T | CA399978258 | MAPT | c.632A>T (p.Lys211Met) c.545A>T (p.Lys182Met) c.719A>T (p.Lys240Met) n.583A>T c.1895A>T (p.Lys632Met) c.1697A>T (p.Lys566Met) c.1670A>T (p.Lys557Met) c.1724A>T (p.Lys575Met) n.673A>T n.6004A>T c.1982A>T (p.Lys661Met) c.1808A>T (p.Lys603Met) c.1784A>T (p.Lys595Met) c.917A>T (p.Lys306Met) c.830A>T (p.Lys277Met) c.743A>T (p.Lys248Met) n.643A>T | |
17 | g.45996562G>A | CA500644014 | MAPT | c.633G>A (p.Lys211=) c.546G>A (p.Lys182=) c.720G>A (p.Lys240=) n.584G>A c.1896G>A (p.Lys632=) c.1698G>A (p.Lys566=) c.1671G>A (p.Lys557=) c.1725G>A (p.Lys575=) n.674G>A n.6005G>A c.1983G>A (p.Lys661=) c.1809G>A (p.Lys603=) c.1785G>A (p.Lys595=) c.918G>A (p.Lys306=) c.831G>A (p.Lys277=) c.744G>A (p.Lys248=) n.644G>A | gnomAD v4 |
17 | g.45996562G>C | CA399978260 | MAPT | c.633G>C (p.Lys211Asn) c.546G>C (p.Lys182Asn) c.720G>C (p.Lys240Asn) n.584G>C c.1896G>C (p.Lys632Asn) c.1698G>C (p.Lys566Asn) c.1671G>C (p.Lys557Asn) c.1725G>C (p.Lys575Asn) n.674G>C n.6005G>C c.1983G>C (p.Lys661Asn) c.1809G>C (p.Lys603Asn) c.1785G>C (p.Lys595Asn) c.918G>C (p.Lys306Asn) c.831G>C (p.Lys277Asn) c.744G>C (p.Lys248Asn) n.644G>C | |
17 | g.45996562G>T | CA399978261 | MAPT | c.633G>T (p.Lys211Asn) c.546G>T (p.Lys182Asn) c.720G>T (p.Lys240Asn) n.584G>T c.1896G>T (p.Lys632Asn) c.1698G>T (p.Lys566Asn) c.1671G>T (p.Lys557Asn) c.1725G>T (p.Lys575Asn) n.674G>T n.6005G>T c.1983G>T (p.Lys661Asn) c.1809G>T (p.Lys603Asn) c.1785G>T (p.Lys595Asn) c.918G>T (p.Lys306Asn) c.831G>T (p.Lys277Asn) c.744G>T (p.Lys248Asn) n.644G>T | |
17 | g.45996563A= | CA2262095020 | MAPT | c.634A= (p.Ser212=) c.547A= (p.Ser183=) c.721A= (p.Ser241=) n.585A= c.1897A= (p.Ser633=) c.1699A= (p.Ser567=) c.1672A= (p.Ser558=) c.1726A= (p.Ser576=) n.675A= n.6006A= c.1984A= (p.Ser662=) c.1810A= (p.Ser604=) c.1786A= (p.Ser596=) c.919A= (p.Ser307=) c.832A= (p.Ser278=) c.745A= (p.Ser249=) n.645A= | |
17 | g.45996563A>C | CA399978262 | MAPT | c.634A>C (p.Ser212Arg) c.547A>C (p.Ser183Arg) c.721A>C (p.Ser241Arg) n.585A>C c.1897A>C (p.Ser633Arg) c.1699A>C (p.Ser567Arg) c.1672A>C (p.Ser558Arg) c.1726A>C (p.Ser576Arg) n.675A>C n.6006A>C c.1984A>C (p.Ser662Arg) c.1810A>C (p.Ser604Arg) c.1786A>C (p.Ser596Arg) c.919A>C (p.Ser307Arg) c.832A>C (p.Ser278Arg) c.745A>C (p.Ser249Arg) n.645A>C | |
17 | g.45996563A>G | CA8618054 | MAPT | c.634A>G (p.Ser212Gly) c.547A>G (p.Ser183Gly) c.721A>G (p.Ser241Gly) n.585A>G c.1897A>G (p.Ser633Gly) c.1699A>G (p.Ser567Gly) c.1672A>G (p.Ser558Gly) c.1726A>G (p.Ser576Gly) n.675A>G n.6006A>G c.1984A>G (p.Ser662Gly) c.1810A>G (p.Ser604Gly) c.1786A>G (p.Ser596Gly) c.919A>G (p.Ser307Gly) c.832A>G (p.Ser278Gly) c.745A>G (p.Ser249Gly) n.645A>G | dbSNP ExAC |
17 | g.45996563A>T | CA399978263 | MAPT | c.634A>T (p.Ser212Cys) c.547A>T (p.Ser183Cys) c.721A>T (p.Ser241Cys) n.585A>T c.1897A>T (p.Ser633Cys) c.1699A>T (p.Ser567Cys) c.1672A>T (p.Ser558Cys) c.1726A>T (p.Ser576Cys) n.675A>T n.6006A>T c.1984A>T (p.Ser662Cys) c.1810A>T (p.Ser604Cys) c.1786A>T (p.Ser596Cys) c.919A>T (p.Ser307Cys) c.832A>T (p.Ser278Cys) c.745A>T (p.Ser249Cys) n.645A>T | |
17 | g.45996564G>A | CA399978264 | MAPT | c.635G>A (p.Ser212Asn) c.548G>A (p.Ser183Asn) c.722G>A (p.Ser241Asn) n.586G>A c.1898G>A (p.Ser633Asn) c.1700G>A (p.Ser567Asn) c.1673G>A (p.Ser558Asn) c.1727G>A (p.Ser576Asn) n.676G>A n.6007G>A c.1985G>A (p.Ser662Asn) c.1811G>A (p.Ser604Asn) c.1787G>A (p.Ser596Asn) c.920G>A (p.Ser307Asn) c.833G>A (p.Ser278Asn) c.746G>A (p.Ser249Asn) n.646G>A | |
17 | g.45996564G>C | CA399978265 | MAPT | c.635G>C (p.Ser212Thr) c.548G>C (p.Ser183Thr) c.722G>C (p.Ser241Thr) n.586G>C c.1898G>C (p.Ser633Thr) c.1700G>C (p.Ser567Thr) c.1673G>C (p.Ser558Thr) c.1727G>C (p.Ser576Thr) n.676G>C n.6007G>C c.1985G>C (p.Ser662Thr) c.1811G>C (p.Ser604Thr) c.1787G>C (p.Ser596Thr) c.920G>C (p.Ser307Thr) c.833G>C (p.Ser278Thr) c.746G>C (p.Ser249Thr) n.646G>C | |
17 | g.45996564G>T | CA399978266 | MAPT | c.635G>T (p.Ser212Ile) c.548G>T (p.Ser183Ile) c.722G>T (p.Ser241Ile) n.586G>T c.1898G>T (p.Ser633Ile) c.1700G>T (p.Ser567Ile) c.1673G>T (p.Ser558Ile) c.1727G>T (p.Ser576Ile) n.676G>T n.6007G>T c.1985G>T (p.Ser662Ile) c.1811G>T (p.Ser604Ile) c.1787G>T (p.Ser596Ile) c.920G>T (p.Ser307Ile) c.833G>T (p.Ser278Ile) c.746G>T (p.Ser249Ile) n.646G>T | |
17 | g.45996565C>A | CA399978267 | MAPT | c.636C>A (p.Ser212Arg) c.549C>A (p.Ser183Arg) c.723C>A (p.Ser241Arg) n.587C>A c.1899C>A (p.Ser633Arg) c.1701C>A (p.Ser567Arg) c.1674C>A (p.Ser558Arg) c.1728C>A (p.Ser576Arg) n.677C>A n.6008C>A c.1986C>A (p.Ser662Arg) c.1812C>A (p.Ser604Arg) c.1788C>A (p.Ser596Arg) c.921C>A (p.Ser307Arg) c.834C>A (p.Ser278Arg) c.747C>A (p.Ser249Arg) n.647C>A | gnomAD v4 |
17 | g.45996565C= | CA2262095021 | MAPT | c.636C= (p.Ser212=) c.549C= (p.Ser183=) c.723C= (p.Ser241=) n.587C= c.1899C= (p.Ser633=) c.1701C= (p.Ser567=) c.1674C= (p.Ser558=) c.1728C= (p.Ser576=) n.677C= n.6008C= c.1986C= (p.Ser662=) c.1812C= (p.Ser604=) c.1788C= (p.Ser596=) c.921C= (p.Ser307=) c.834C= (p.Ser278=) c.747C= (p.Ser249=) n.647C= | |
17 | g.45996565C>G | CA399978268 | MAPT | c.636C>G (p.Ser212Arg) c.549C>G (p.Ser183Arg) c.723C>G (p.Ser241Arg) n.587C>G c.1899C>G (p.Ser633Arg) c.1701C>G (p.Ser567Arg) c.1674C>G (p.Ser558Arg) c.1728C>G (p.Ser576Arg) n.677C>G n.6008C>G c.1986C>G (p.Ser662Arg) c.1812C>G (p.Ser604Arg) c.1788C>G (p.Ser596Arg) c.921C>G (p.Ser307Arg) c.834C>G (p.Ser278Arg) c.747C>G (p.Ser249Arg) n.647C>G | |
17 | g.45996565C>T | CA500644015 | MAPT | c.636C>T (p.Ser212=) c.549C>T (p.Ser183=) c.723C>T (p.Ser241=) n.587C>T c.1899C>T (p.Ser633=) c.1701C>T (p.Ser567=) c.1674C>T (p.Ser558=) c.1728C>T (p.Ser576=) n.677C>T n.6008C>T c.1986C>T (p.Ser662=) c.1812C>T (p.Ser604=) c.1788C>T (p.Ser596=) c.921C>T (p.Ser307=) c.834C>T (p.Ser278=) c.747C>T (p.Ser249=) n.647C>T | dbSNP gnomAD v2 |
17 | g.45996566C>A | CA399978269 | MAPT | c.637C>A (p.Arg213Ser) c.550C>A (p.Arg184Ser) c.724C>A (p.Arg242Ser) n.588C>A c.1900C>A (p.Arg634Ser) c.1702C>A (p.Arg568Ser) c.1675C>A (p.Arg559Ser) c.1729C>A (p.Arg577Ser) n.678C>A n.6009C>A c.1987C>A (p.Arg663Ser) c.1813C>A (p.Arg605Ser) c.1789C>A (p.Arg597Ser) c.922C>A (p.Arg308Ser) c.835C>A (p.Arg279Ser) c.748C>A (p.Arg250Ser) n.648C>A | ClinVar |
17 | g.45996566C>G | CA399978270 | MAPT | c.637C>G (p.Arg213Gly) c.550C>G (p.Arg184Gly) c.724C>G (p.Arg242Gly) n.588C>G c.1900C>G (p.Arg634Gly) c.1702C>G (p.Arg568Gly) c.1675C>G (p.Arg559Gly) c.1729C>G (p.Arg577Gly) n.678C>G n.6009C>G c.1987C>G (p.Arg663Gly) c.1813C>G (p.Arg605Gly) c.1789C>G (p.Arg597Gly) c.922C>G (p.Arg308Gly) c.835C>G (p.Arg279Gly) c.748C>G (p.Arg250Gly) n.648C>G | |
17 | g.45996566C>T | CA399978271 | MAPT | c.637C>T (p.Arg213Cys) c.550C>T (p.Arg184Cys) c.724C>T (p.Arg242Cys) n.588C>T c.1900C>T (p.Arg634Cys) c.1702C>T (p.Arg568Cys) c.1675C>T (p.Arg559Cys) c.1729C>T (p.Arg577Cys) n.678C>T n.6009C>T c.1987C>T (p.Arg663Cys) c.1813C>T (p.Arg605Cys) c.1789C>T (p.Arg597Cys) c.922C>T (p.Arg308Cys) c.835C>T (p.Arg279Cys) c.748C>T (p.Arg250Cys) n.648C>T | ClinVar gnomAD v4 |
17 | g.45996567G>A | CA399978274 | MAPT | c.638G>A (p.Arg213His) c.551G>A (p.Arg184His) c.725G>A (p.Arg242His) n.589G>A c.1901G>A (p.Arg634His) c.1703G>A (p.Arg568His) c.1676G>A (p.Arg559His) c.1730G>A (p.Arg577His) n.679G>A n.6010G>A c.1988G>A (p.Arg663His) c.1814G>A (p.Arg605His) c.1790G>A (p.Arg597His) c.923G>A (p.Arg308His) c.836G>A (p.Arg279His) c.749G>A (p.Arg250His) n.649G>A | dbSNP gnomAD v4 |
17 | g.45996567G>C | CA399978273 | MAPT | c.638G>C (p.Arg213Pro) c.551G>C (p.Arg184Pro) c.725G>C (p.Arg242Pro) n.589G>C c.1901G>C (p.Arg634Pro) c.1703G>C (p.Arg568Pro) c.1676G>C (p.Arg559Pro) c.1730G>C (p.Arg577Pro) n.679G>C n.6010G>C c.1988G>C (p.Arg663Pro) c.1814G>C (p.Arg605Pro) c.1790G>C (p.Arg597Pro) c.923G>C (p.Arg308Pro) c.836G>C (p.Arg279Pro) c.749G>C (p.Arg250Pro) n.649G>C | |
17 | g.45996567G= | CA2262095022 | MAPT | c.638G= (p.Arg213=) c.551G= (p.Arg184=) c.725G= (p.Arg242=) n.589G= c.1901G= (p.Arg634=) c.1703G= (p.Arg568=) c.1676G= (p.Arg559=) c.1730G= (p.Arg577=) n.679G= n.6010G= c.1988G= (p.Arg663=) c.1814G= (p.Arg605=) c.1790G= (p.Arg597=) c.923G= (p.Arg308=) c.836G= (p.Arg279=) c.749G= (p.Arg250=) n.649G= | |
17 | g.45996567G>T | CA399978272 | MAPT | c.638G>T (p.Arg213Leu) c.551G>T (p.Arg184Leu) c.725G>T (p.Arg242Leu) n.589G>T c.1901G>T (p.Arg634Leu) c.1703G>T (p.Arg568Leu) c.1676G>T (p.Arg559Leu) c.1730G>T (p.Arg577Leu) n.679G>T n.6010G>T c.1988G>T (p.Arg663Leu) c.1814G>T (p.Arg605Leu) c.1790G>T (p.Arg597Leu) c.923G>T (p.Arg308Leu) c.836G>T (p.Arg279Leu) c.749G>T (p.Arg250Leu) n.649G>T | |
17 | g.45996568C>A | CA500644017 | MAPT | c.639C>A (p.Arg213=) c.552C>A (p.Arg184=) c.726C>A (p.Arg242=) n.590C>A c.1902C>A (p.Arg634=) c.1704C>A (p.Arg568=) c.1677C>A (p.Arg559=) c.1731C>A (p.Arg577=) n.680C>A n.6011C>A c.1989C>A (p.Arg663=) c.1815C>A (p.Arg605=) c.1791C>A (p.Arg597=) c.924C>A (p.Arg308=) c.837C>A (p.Arg279=) c.750C>A (p.Arg250=) n.650C>A | |
17 | g.45996568C= | CA2262095023 | MAPT | c.639C= (p.Arg213=) c.552C= (p.Arg184=) c.726C= (p.Arg242=) n.590C= c.1902C= (p.Arg634=) c.1704C= (p.Arg568=) c.1677C= (p.Arg559=) c.1731C= (p.Arg577=) n.680C= n.6011C= c.1989C= (p.Arg663=) c.1815C= (p.Arg605=) c.1791C= (p.Arg597=) c.924C= (p.Arg308=) c.837C= (p.Arg279=) c.750C= (p.Arg250=) n.650C= | |
17 | g.45996568C>G | CA8618055 | MAPT | c.639C>G (p.Arg213=) c.552C>G (p.Arg184=) c.726C>G (p.Arg242=) n.590C>G c.1902C>G (p.Arg634=) c.1704C>G (p.Arg568=) c.1677C>G (p.Arg559=) c.1731C>G (p.Arg577=) n.680C>G n.6011C>G c.1989C>G (p.Arg663=) c.1815C>G (p.Arg605=) c.1791C>G (p.Arg597=) c.924C>G (p.Arg308=) c.837C>G (p.Arg279=) c.750C>G (p.Arg250=) n.650C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996568C>T | CA500644016 | MAPT | c.639C>T (p.Arg213=) c.552C>T (p.Arg184=) c.726C>T (p.Arg242=) n.590C>T c.1902C>T (p.Arg634=) c.1704C>T (p.Arg568=) c.1677C>T (p.Arg559=) c.1731C>T (p.Arg577=) n.680C>T n.6011C>T c.1989C>T (p.Arg663=) c.1815C>T (p.Arg605=) c.1791C>T (p.Arg597=) c.924C>T (p.Arg308=) c.837C>T (p.Arg279=) c.750C>T (p.Arg250=) n.650C>T | gnomAD v4 |
17 | g.45996569C>A | CA399978275 | MAPT | c.640C>A (p.Leu214Met) c.553C>A (p.Leu185Met) c.727C>A (p.Leu243Met) n.591C>A c.1903C>A (p.Leu635Met) c.1705C>A (p.Leu569Met) c.1678C>A (p.Leu560Met) c.1732C>A (p.Leu578Met) n.681C>A n.6012C>A c.1990C>A (p.Leu664Met) c.1816C>A (p.Leu606Met) c.1792C>A (p.Leu598Met) c.925C>A (p.Leu309Met) c.838C>A (p.Leu280Met) c.751C>A (p.Leu251Met) n.651C>A | |
17 | g.45996569C>G | CA399978276 | MAPT | c.640C>G (p.Leu214Val) c.553C>G (p.Leu185Val) c.727C>G (p.Leu243Val) n.591C>G c.1903C>G (p.Leu635Val) c.1705C>G (p.Leu569Val) c.1678C>G (p.Leu560Val) c.1732C>G (p.Leu578Val) n.681C>G n.6012C>G c.1990C>G (p.Leu664Val) c.1816C>G (p.Leu606Val) c.1792C>G (p.Leu598Val) c.925C>G (p.Leu309Val) c.838C>G (p.Leu280Val) c.751C>G (p.Leu251Val) n.651C>G | |
17 | g.45996569C>T | CA500644018 | MAPT | c.640C>T (p.Leu214=) c.553C>T (p.Leu185=) c.727C>T (p.Leu243=) n.591C>T c.1903C>T (p.Leu635=) c.1705C>T (p.Leu569=) c.1678C>T (p.Leu560=) c.1732C>T (p.Leu578=) n.681C>T n.6012C>T c.1990C>T (p.Leu664=) c.1816C>T (p.Leu606=) c.1792C>T (p.Leu598=) c.925C>T (p.Leu309=) c.838C>T (p.Leu280=) c.751C>T (p.Leu251=) n.651C>T | |
17 | g.45996570T>A | CA399978277 | MAPT | c.641T>A (p.Leu214Gln) c.554T>A (p.Leu185Gln) c.728T>A (p.Leu243Gln) n.592T>A c.1904T>A (p.Leu635Gln) c.1706T>A (p.Leu569Gln) c.1679T>A (p.Leu560Gln) c.1733T>A (p.Leu578Gln) n.682T>A n.6013T>A c.1991T>A (p.Leu664Gln) c.1817T>A (p.Leu606Gln) c.1793T>A (p.Leu598Gln) c.926T>A (p.Leu309Gln) c.839T>A (p.Leu280Gln) c.752T>A (p.Leu251Gln) n.652T>A | |
17 | g.45996570T>C | CA399978278 | MAPT | c.641T>C (p.Leu214Pro) c.554T>C (p.Leu185Pro) c.728T>C (p.Leu243Pro) n.592T>C c.1904T>C (p.Leu635Pro) c.1706T>C (p.Leu569Pro) c.1679T>C (p.Leu560Pro) c.1733T>C (p.Leu578Pro) n.682T>C n.6013T>C c.1991T>C (p.Leu664Pro) c.1817T>C (p.Leu606Pro) c.1793T>C (p.Leu598Pro) c.926T>C (p.Leu309Pro) c.839T>C (p.Leu280Pro) c.752T>C (p.Leu251Pro) n.652T>C | |
17 | g.45996570T>G | CA399978279 | MAPT | c.641T>G (p.Leu214Arg) c.554T>G (p.Leu185Arg) c.728T>G (p.Leu243Arg) n.592T>G c.1904T>G (p.Leu635Arg) c.1706T>G (p.Leu569Arg) c.1679T>G (p.Leu560Arg) c.1733T>G (p.Leu578Arg) n.682T>G n.6013T>G c.1991T>G (p.Leu664Arg) c.1817T>G (p.Leu606Arg) c.1793T>G (p.Leu598Arg) c.926T>G (p.Leu309Arg) c.839T>G (p.Leu280Arg) c.752T>G (p.Leu251Arg) n.652T>G | |
17 | g.45996571G>A | CA500644020 | MAPT | c.642G>A (p.Leu214=) c.555G>A (p.Leu185=) c.729G>A (p.Leu243=) n.593G>A c.1905G>A (p.Leu635=) c.1707G>A (p.Leu569=) c.1680G>A (p.Leu560=) c.1734G>A (p.Leu578=) n.683G>A n.6014G>A c.1992G>A (p.Leu664=) c.1818G>A (p.Leu606=) c.1794G>A (p.Leu598=) c.927G>A (p.Leu309=) c.840G>A (p.Leu280=) c.753G>A (p.Leu251=) n.653G>A | |
17 | g.45996571G>C | CA500644019 | MAPT | c.642G>C (p.Leu214=) c.555G>C (p.Leu185=) c.729G>C (p.Leu243=) n.593G>C c.1905G>C (p.Leu635=) c.1707G>C (p.Leu569=) c.1680G>C (p.Leu560=) c.1734G>C (p.Leu578=) n.683G>C n.6014G>C c.1992G>C (p.Leu664=) c.1818G>C (p.Leu606=) c.1794G>C (p.Leu598=) c.927G>C (p.Leu309=) c.840G>C (p.Leu280=) c.753G>C (p.Leu251=) n.653G>C | |
17 | g.45996571G>T | CA500644021 | MAPT | c.642G>T (p.Leu214=) c.555G>T (p.Leu185=) c.729G>T (p.Leu243=) n.593G>T c.1905G>T (p.Leu635=) c.1707G>T (p.Leu569=) c.1680G>T (p.Leu560=) c.1734G>T (p.Leu578=) n.683G>T n.6014G>T c.1992G>T (p.Leu664=) c.1818G>T (p.Leu606=) c.1794G>T (p.Leu598=) c.927G>T (p.Leu309=) c.840G>T (p.Leu280=) c.753G>T (p.Leu251=) n.653G>T | |
17 | g.45996572C>A | CA399978280 | MAPT | c.643C>A (p.Gln215Lys) c.556C>A (p.Gln186Lys) c.730C>A (p.Gln244Lys) n.594C>A c.1906C>A (p.Gln636Lys) c.1708C>A (p.Gln570Lys) c.1681C>A (p.Gln561Lys) c.1735C>A (p.Gln579Lys) n.684C>A n.6015C>A c.1993C>A (p.Gln665Lys) c.1819C>A (p.Gln607Lys) c.1795C>A (p.Gln599Lys) c.928C>A (p.Gln310Lys) c.841C>A (p.Gln281Lys) c.754C>A (p.Gln252Lys) n.654C>A | |
17 | g.45996572C>G | CA399978281 | MAPT | c.643C>G (p.Gln215Glu) c.556C>G (p.Gln186Glu) c.730C>G (p.Gln244Glu) n.594C>G c.1906C>G (p.Gln636Glu) c.1708C>G (p.Gln570Glu) c.1681C>G (p.Gln561Glu) c.1735C>G (p.Gln579Glu) n.684C>G n.6015C>G c.1993C>G (p.Gln665Glu) c.1819C>G (p.Gln607Glu) c.1795C>G (p.Gln599Glu) c.928C>G (p.Gln310Glu) c.841C>G (p.Gln281Glu) c.754C>G (p.Gln252Glu) n.654C>G | |
17 | g.45996572C>T | CA399978282 | MAPT | c.643C>T (p.Gln215Ter) c.556C>T (p.Gln186Ter) c.730C>T (p.Gln244Ter) n.594C>T c.1906C>T (p.Gln636Ter) c.1708C>T (p.Gln570Ter) c.1681C>T (p.Gln561Ter) c.1735C>T (p.Gln579Ter) n.684C>T n.6015C>T c.1993C>T (p.Gln665Ter) c.1819C>T (p.Gln607Ter) c.1795C>T (p.Gln599Ter) c.928C>T (p.Gln310Ter) c.841C>T (p.Gln281Ter) c.754C>T (p.Gln252Ter) n.654C>T | |
17 | g.45996573A= | CA2262095024 | MAPT | c.644A= (p.Gln215=) c.557A= (p.Gln186=) c.731A= (p.Gln244=) n.595A= c.1907A= (p.Gln636=) c.1709A= (p.Gln570=) c.1682A= (p.Gln561=) c.1736A= (p.Gln579=) n.685A= n.6016A= c.1994A= (p.Gln665=) c.1820A= (p.Gln607=) c.1796A= (p.Gln599=) c.929A= (p.Gln310=) c.842A= (p.Gln281=) c.755A= (p.Gln252=) n.655A= | |
17 | g.45996573A>C | CA399978283 | MAPT | c.644A>C (p.Gln215Pro) c.557A>C (p.Gln186Pro) c.731A>C (p.Gln244Pro) n.595A>C c.1907A>C (p.Gln636Pro) c.1709A>C (p.Gln570Pro) c.1682A>C (p.Gln561Pro) c.1736A>C (p.Gln579Pro) n.685A>C n.6016A>C c.1994A>C (p.Gln665Pro) c.1820A>C (p.Gln607Pro) c.1796A>C (p.Gln599Pro) c.929A>C (p.Gln310Pro) c.842A>C (p.Gln281Pro) c.755A>C (p.Gln252Pro) n.655A>C | dbSNP |
17 | g.45996573A>G | CA399978284 | MAPT | c.644A>G (p.Gln215Arg) c.557A>G (p.Gln186Arg) c.731A>G (p.Gln244Arg) n.595A>G c.1907A>G (p.Gln636Arg) c.1709A>G (p.Gln570Arg) c.1682A>G (p.Gln561Arg) c.1736A>G (p.Gln579Arg) n.685A>G n.6016A>G c.1994A>G (p.Gln665Arg) c.1820A>G (p.Gln607Arg) c.1796A>G (p.Gln599Arg) c.929A>G (p.Gln310Arg) c.842A>G (p.Gln281Arg) c.755A>G (p.Gln252Arg) n.655A>G | |
17 | g.45996573A>T | CA399978285 | MAPT | c.644A>T (p.Gln215Leu) c.557A>T (p.Gln186Leu) c.731A>T (p.Gln244Leu) n.595A>T c.1907A>T (p.Gln636Leu) c.1709A>T (p.Gln570Leu) c.1682A>T (p.Gln561Leu) c.1736A>T (p.Gln579Leu) n.685A>T n.6016A>T c.1994A>T (p.Gln665Leu) c.1820A>T (p.Gln607Leu) c.1796A>T (p.Gln599Leu) c.929A>T (p.Gln310Leu) c.842A>T (p.Gln281Leu) c.755A>T (p.Gln252Leu) n.655A>T | |
17 | g.45996574G>A | CA500644022 | MAPT | c.645G>A (p.Gln215=) c.558G>A (p.Gln186=) c.732G>A (p.Gln244=) n.596G>A c.1908G>A (p.Gln636=) c.1710G>A (p.Gln570=) c.1683G>A (p.Gln561=) c.1737G>A (p.Gln579=) n.686G>A n.6017G>A c.1995G>A (p.Gln665=) c.1821G>A (p.Gln607=) c.1797G>A (p.Gln599=) c.930G>A (p.Gln310=) c.843G>A (p.Gln281=) c.756G>A (p.Gln252=) n.656G>A | |
17 | g.45996574G>C | CA399978286 | MAPT | c.645G>C (p.Gln215His) c.558G>C (p.Gln186His) c.732G>C (p.Gln244His) n.596G>C c.1908G>C (p.Gln636His) c.1710G>C (p.Gln570His) c.1683G>C (p.Gln561His) c.1737G>C (p.Gln579His) n.686G>C n.6017G>C c.1995G>C (p.Gln665His) c.1821G>C (p.Gln607His) c.1797G>C (p.Gln599His) c.930G>C (p.Gln310His) c.843G>C (p.Gln281His) c.756G>C (p.Gln252His) n.656G>C | gnomAD v4 |
17 | g.45996574G>T | CA399978287 | MAPT | c.645G>T (p.Gln215His) c.558G>T (p.Gln186His) c.732G>T (p.Gln244His) n.596G>T c.1908G>T (p.Gln636His) c.1710G>T (p.Gln570His) c.1683G>T (p.Gln561His) c.1737G>T (p.Gln579His) n.686G>T n.6017G>T c.1995G>T (p.Gln665His) c.1821G>T (p.Gln607His) c.1797G>T (p.Gln599His) c.930G>T (p.Gln310His) c.843G>T (p.Gln281His) c.756G>T (p.Gln252His) n.656G>T | |
17 | g.45996575A>C | CA399978288 | MAPT | c.646A>C (p.Thr216Pro) c.559A>C (p.Thr187Pro) c.733A>C (p.Thr245Pro) n.597A>C c.1909A>C (p.Thr637Pro) c.1711A>C (p.Thr571Pro) c.1684A>C (p.Thr562Pro) c.1738A>C (p.Thr580Pro) n.687A>C n.6018A>C c.1996A>C (p.Thr666Pro) c.1822A>C (p.Thr608Pro) c.1798A>C (p.Thr600Pro) c.931A>C (p.Thr311Pro) c.844A>C (p.Thr282Pro) c.757A>C (p.Thr253Pro) n.657A>C | |
17 | g.45996575A>G | CA399978289 | MAPT | c.646A>G (p.Thr216Ala) c.559A>G (p.Thr187Ala) c.733A>G (p.Thr245Ala) n.597A>G c.1909A>G (p.Thr637Ala) c.1711A>G (p.Thr571Ala) c.1684A>G (p.Thr562Ala) c.1738A>G (p.Thr580Ala) n.687A>G n.6018A>G c.1996A>G (p.Thr666Ala) c.1822A>G (p.Thr608Ala) c.1798A>G (p.Thr600Ala) c.931A>G (p.Thr311Ala) c.844A>G (p.Thr282Ala) c.757A>G (p.Thr253Ala) n.657A>G | |
17 | g.45996575A>T | CA399978290 | MAPT | c.646A>T (p.Thr216Ser) c.559A>T (p.Thr187Ser) c.733A>T (p.Thr245Ser) n.597A>T c.1909A>T (p.Thr637Ser) c.1711A>T (p.Thr571Ser) c.1684A>T (p.Thr562Ser) c.1738A>T (p.Thr580Ser) n.687A>T n.6018A>T c.1996A>T (p.Thr666Ser) c.1822A>T (p.Thr608Ser) c.1798A>T (p.Thr600Ser) c.931A>T (p.Thr311Ser) c.844A>T (p.Thr282Ser) c.757A>T (p.Thr253Ser) n.657A>T | |
17 | g.45996576C>A | CA399978291 | MAPT | c.647C>A (p.Thr216Lys) c.560C>A (p.Thr187Lys) c.734C>A (p.Thr245Lys) n.598C>A c.1910C>A (p.Thr637Lys) c.1712C>A (p.Thr571Lys) c.1685C>A (p.Thr562Lys) c.1739C>A (p.Thr580Lys) n.688C>A n.6019C>A c.1997C>A (p.Thr666Lys) c.1823C>A (p.Thr608Lys) c.1799C>A (p.Thr600Lys) c.932C>A (p.Thr311Lys) c.845C>A (p.Thr282Lys) c.758C>A (p.Thr253Lys) n.658C>A | |
17 | g.45996576C= | CA2262095025 | MAPT | c.647C= (p.Thr216=) c.560C= (p.Thr187=) c.734C= (p.Thr245=) n.598C= c.1910C= (p.Thr637=) c.1712C= (p.Thr571=) c.1685C= (p.Thr562=) c.1739C= (p.Thr580=) n.688C= n.6019C= c.1997C= (p.Thr666=) c.1823C= (p.Thr608=) c.1799C= (p.Thr600=) c.932C= (p.Thr311=) c.845C= (p.Thr282=) c.758C= (p.Thr253=) n.658C= | |
17 | g.45996576C>G | CA399978292 | MAPT | c.647C>G (p.Thr216Arg) c.560C>G (p.Thr187Arg) c.734C>G (p.Thr245Arg) n.598C>G c.1910C>G (p.Thr637Arg) c.1712C>G (p.Thr571Arg) c.1685C>G (p.Thr562Arg) c.1739C>G (p.Thr580Arg) n.688C>G n.6019C>G c.1997C>G (p.Thr666Arg) c.1823C>G (p.Thr608Arg) c.1799C>G (p.Thr600Arg) c.932C>G (p.Thr311Arg) c.845C>G (p.Thr282Arg) c.758C>G (p.Thr253Arg) n.658C>G | dbSNP gnomAD v2 |
17 | g.45996576C>T | CA399978293 | MAPT | c.647C>T (p.Thr216Ile) c.560C>T (p.Thr187Ile) c.734C>T (p.Thr245Ile) n.598C>T c.1910C>T (p.Thr637Ile) c.1712C>T (p.Thr571Ile) c.1685C>T (p.Thr562Ile) c.1739C>T (p.Thr580Ile) n.688C>T n.6019C>T c.1997C>T (p.Thr666Ile) c.1823C>T (p.Thr608Ile) c.1799C>T (p.Thr600Ile) c.932C>T (p.Thr311Ile) c.845C>T (p.Thr282Ile) c.758C>T (p.Thr253Ile) n.658C>T | |
17 | g.45996577A>C | CA500644025 | MAPT | c.648A>C (p.Thr216=) c.561A>C (p.Thr187=) c.735A>C (p.Thr245=) n.599A>C c.1911A>C (p.Thr637=) c.1713A>C (p.Thr571=) c.1686A>C (p.Thr562=) c.1740A>C (p.Thr580=) n.689A>C n.6020A>C c.1998A>C (p.Thr666=) c.1824A>C (p.Thr608=) c.1800A>C (p.Thr600=) c.933A>C (p.Thr311=) c.846A>C (p.Thr282=) c.759A>C (p.Thr253=) n.659A>C | |
17 | g.45996577A>G | CA500644024 | MAPT | c.648A>G (p.Thr216=) c.561A>G (p.Thr187=) c.735A>G (p.Thr245=) n.599A>G c.1911A>G (p.Thr637=) c.1713A>G (p.Thr571=) c.1686A>G (p.Thr562=) c.1740A>G (p.Thr580=) n.689A>G n.6020A>G c.1998A>G (p.Thr666=) c.1824A>G (p.Thr608=) c.1800A>G (p.Thr600=) c.933A>G (p.Thr311=) c.846A>G (p.Thr282=) c.759A>G (p.Thr253=) n.659A>G | |
17 | g.45996577A>T | CA500644023 | MAPT | c.648A>T (p.Thr216=) c.561A>T (p.Thr187=) c.735A>T (p.Thr245=) n.599A>T c.1911A>T (p.Thr637=) c.1713A>T (p.Thr571=) c.1686A>T (p.Thr562=) c.1740A>T (p.Thr580=) n.689A>T n.6020A>T c.1998A>T (p.Thr666=) c.1824A>T (p.Thr608=) c.1800A>T (p.Thr600=) c.933A>T (p.Thr311=) c.846A>T (p.Thr282=) c.759A>T (p.Thr253=) n.659A>T | |
17 | g.45996578G>A | CA8618056 | MAPT | c.649G>A (p.Ala217Thr) c.562G>A (p.Ala188Thr) c.736G>A (p.Ala246Thr) n.600G>A c.1912G>A (p.Ala638Thr) c.1714G>A (p.Ala572Thr) c.1687G>A (p.Ala563Thr) c.1741G>A (p.Ala581Thr) n.690G>A n.6021G>A c.1999G>A (p.Ala667Thr) c.1825G>A (p.Ala609Thr) c.1801G>A (p.Ala601Thr) c.934G>A (p.Ala312Thr) c.847G>A (p.Ala283Thr) c.760G>A (p.Ala254Thr) n.660G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996578G>C | CA399978294 | MAPT | c.649G>C (p.Ala217Pro) c.562G>C (p.Ala188Pro) c.736G>C (p.Ala246Pro) n.600G>C c.1912G>C (p.Ala638Pro) c.1714G>C (p.Ala572Pro) c.1687G>C (p.Ala563Pro) c.1741G>C (p.Ala581Pro) n.690G>C n.6021G>C c.1999G>C (p.Ala667Pro) c.1825G>C (p.Ala609Pro) c.1801G>C (p.Ala601Pro) c.934G>C (p.Ala312Pro) c.847G>C (p.Ala283Pro) c.760G>C (p.Ala254Pro) n.660G>C | |
17 | g.45996578G= | CA2262095026 | MAPT | c.649G= (p.Ala217=) c.562G= (p.Ala188=) c.736G= (p.Ala246=) n.600G= c.1912G= (p.Ala638=) c.1714G= (p.Ala572=) c.1687G= (p.Ala563=) c.1741G= (p.Ala581=) n.690G= n.6021G= c.1999G= (p.Ala667=) c.1825G= (p.Ala609=) c.1801G= (p.Ala601=) c.934G= (p.Ala312=) c.847G= (p.Ala283=) c.760G= (p.Ala254=) n.660G= | |
17 | g.45996578G>T | CA399978295 | MAPT | c.649G>T (p.Ala217Ser) c.562G>T (p.Ala188Ser) c.736G>T (p.Ala246Ser) n.600G>T c.1912G>T (p.Ala638Ser) c.1714G>T (p.Ala572Ser) c.1687G>T (p.Ala563Ser) c.1741G>T (p.Ala581Ser) n.690G>T n.6021G>T c.1999G>T (p.Ala667Ser) c.1825G>T (p.Ala609Ser) c.1801G>T (p.Ala601Ser) c.934G>T (p.Ala312Ser) c.847G>T (p.Ala283Ser) c.760G>T (p.Ala254Ser) n.660G>T | gnomAD v4 |
17 | g.45996579C>A | CA399978296 | MAPT | c.650C>A (p.Ala217Asp) c.563C>A (p.Ala188Asp) c.737C>A (p.Ala246Asp) n.601C>A c.1913C>A (p.Ala638Asp) c.1715C>A (p.Ala572Asp) c.1688C>A (p.Ala563Asp) c.1742C>A (p.Ala581Asp) n.691C>A n.6022C>A c.2000C>A (p.Ala667Asp) c.1826C>A (p.Ala609Asp) c.1802C>A (p.Ala601Asp) c.935C>A (p.Ala312Asp) c.848C>A (p.Ala283Asp) c.761C>A (p.Ala254Asp) n.661C>A | gnomAD v4 |
17 | g.45996579C>G | CA399978297 | MAPT | c.650C>G (p.Ala217Gly) c.563C>G (p.Ala188Gly) c.737C>G (p.Ala246Gly) n.601C>G c.1913C>G (p.Ala638Gly) c.1715C>G (p.Ala572Gly) c.1688C>G (p.Ala563Gly) c.1742C>G (p.Ala581Gly) n.691C>G n.6022C>G c.2000C>G (p.Ala667Gly) c.1826C>G (p.Ala609Gly) c.1802C>G (p.Ala601Gly) c.935C>G (p.Ala312Gly) c.848C>G (p.Ala283Gly) c.761C>G (p.Ala254Gly) n.661C>G | |
17 | g.45996579C>T | CA399978298 | MAPT | c.650C>T (p.Ala217Val) c.563C>T (p.Ala188Val) c.737C>T (p.Ala246Val) n.601C>T c.1913C>T (p.Ala638Val) c.1715C>T (p.Ala572Val) c.1688C>T (p.Ala563Val) c.1742C>T (p.Ala581Val) n.691C>T n.6022C>T c.2000C>T (p.Ala667Val) c.1826C>T (p.Ala609Val) c.1802C>T (p.Ala601Val) c.935C>T (p.Ala312Val) c.848C>T (p.Ala283Val) c.761C>T (p.Ala254Val) n.661C>T | gnomAD v4 |
17 | g.45996583dup | CA291107187 | MAPT | c.654dup (p.Val219ArgfsTer17) c.567dup (p.Val190ArgfsTer17) c.741dup (p.Val248ArgfsTer17) n.605dup c.1917dup (p.Val640ArgfsTer17) c.1719dup (p.Val574ArgfsTer17) c.1692dup (p.Val565ArgfsTer17) c.1746dup (p.Val583ArgfsTer17) n.695dup n.6026dup c.2004dup (p.Val669ArgfsTer17) c.1830dup (p.Val611ArgfsTer17) c.1806dup (p.Val603ArgfsTer17) c.939dup (p.Val314ArgfsTer17) c.852dup (p.Val285ArgfsTer17) c.765dup (p.Val256ArgfsTer17) n.665dup | dbSNP |
17 | g.45996580C>A | CA500644027 | MAPT | c.651C>A (p.Ala217=) c.564C>A (p.Ala188=) c.738C>A (p.Ala246=) n.602C>A c.1914C>A (p.Ala638=) c.1716C>A (p.Ala572=) c.1689C>A (p.Ala563=) c.1743C>A (p.Ala581=) n.692C>A n.6023C>A c.2001C>A (p.Ala667=) c.1827C>A (p.Ala609=) c.1803C>A (p.Ala601=) c.936C>A (p.Ala312=) c.849C>A (p.Ala283=) c.762C>A (p.Ala254=) n.662C>A | |
17 | g.45996580C>G | CA500644028 | MAPT | c.651C>G (p.Ala217=) c.564C>G (p.Ala188=) c.738C>G (p.Ala246=) n.602C>G c.1914C>G (p.Ala638=) c.1716C>G (p.Ala572=) c.1689C>G (p.Ala563=) c.1743C>G (p.Ala581=) n.692C>G n.6023C>G c.2001C>G (p.Ala667=) c.1827C>G (p.Ala609=) c.1803C>G (p.Ala601=) c.936C>G (p.Ala312=) c.849C>G (p.Ala283=) c.762C>G (p.Ala254=) n.662C>G | |
17 | g.45996580C>T | CA500644026 | MAPT | c.651C>T (p.Ala217=) c.564C>T (p.Ala188=) c.738C>T (p.Ala246=) n.602C>T c.1914C>T (p.Ala638=) c.1716C>T (p.Ala572=) c.1689C>T (p.Ala563=) c.1743C>T (p.Ala581=) n.692C>T n.6023C>T c.2001C>T (p.Ala667=) c.1827C>T (p.Ala609=) c.1803C>T (p.Ala601=) c.936C>T (p.Ala312=) c.849C>T (p.Ala283=) c.762C>T (p.Ala254=) n.662C>T | |
17 | g.45996581C>A | CA399978299 | MAPT | c.652C>A (p.Pro218Thr) c.565C>A (p.Pro189Thr) c.739C>A (p.Pro247Thr) n.603C>A c.1915C>A (p.Pro639Thr) c.1717C>A (p.Pro573Thr) c.1690C>A (p.Pro564Thr) c.1744C>A (p.Pro582Thr) n.693C>A n.6024C>A c.2002C>A (p.Pro668Thr) c.1828C>A (p.Pro610Thr) c.1804C>A (p.Pro602Thr) c.937C>A (p.Pro313Thr) c.850C>A (p.Pro284Thr) c.763C>A (p.Pro255Thr) n.663C>A | |
17 | g.45996581C>G | CA399978301 | MAPT | c.652C>G (p.Pro218Ala) c.565C>G (p.Pro189Ala) c.739C>G (p.Pro247Ala) n.603C>G c.1915C>G (p.Pro639Ala) c.1717C>G (p.Pro573Ala) c.1690C>G (p.Pro564Ala) c.1744C>G (p.Pro582Ala) n.693C>G n.6024C>G c.2002C>G (p.Pro668Ala) c.1828C>G (p.Pro610Ala) c.1804C>G (p.Pro602Ala) c.937C>G (p.Pro313Ala) c.850C>G (p.Pro284Ala) c.763C>G (p.Pro255Ala) n.663C>G | |
17 | g.45996581C>T | CA399978300 | MAPT | c.652C>T (p.Pro218Ser) c.565C>T (p.Pro189Ser) c.739C>T (p.Pro247Ser) n.603C>T c.1915C>T (p.Pro639Ser) c.1717C>T (p.Pro573Ser) c.1690C>T (p.Pro564Ser) c.1744C>T (p.Pro582Ser) n.693C>T n.6024C>T c.2002C>T (p.Pro668Ser) c.1828C>T (p.Pro610Ser) c.1804C>T (p.Pro602Ser) c.937C>T (p.Pro313Ser) c.850C>T (p.Pro284Ser) c.763C>T (p.Pro255Ser) n.663C>T | gnomAD v4 |
17 | g.45996582C>A | CA399978302 | MAPT | c.653C>A (p.Pro218His) c.566C>A (p.Pro189His) c.740C>A (p.Pro247His) n.604C>A c.1916C>A (p.Pro639His) c.1718C>A (p.Pro573His) c.1691C>A (p.Pro564His) c.1745C>A (p.Pro582His) n.694C>A n.6025C>A c.2003C>A (p.Pro668His) c.1829C>A (p.Pro610His) c.1805C>A (p.Pro602His) c.938C>A (p.Pro313His) c.851C>A (p.Pro284His) c.764C>A (p.Pro255His) n.664C>A | |
17 | g.45996582C>G | CA399978303 | MAPT | c.653C>G (p.Pro218Arg) c.566C>G (p.Pro189Arg) c.740C>G (p.Pro247Arg) n.604C>G c.1916C>G (p.Pro639Arg) c.1718C>G (p.Pro573Arg) c.1691C>G (p.Pro564Arg) c.1745C>G (p.Pro582Arg) n.694C>G n.6025C>G c.2003C>G (p.Pro668Arg) c.1829C>G (p.Pro610Arg) c.1805C>G (p.Pro602Arg) c.938C>G (p.Pro313Arg) c.851C>G (p.Pro284Arg) c.764C>G (p.Pro255Arg) n.664C>G | |
17 | g.45996582C>T | CA399978304 | MAPT | c.653C>T (p.Pro218Leu) c.566C>T (p.Pro189Leu) c.740C>T (p.Pro247Leu) n.604C>T c.1916C>T (p.Pro639Leu) c.1718C>T (p.Pro573Leu) c.1691C>T (p.Pro564Leu) c.1745C>T (p.Pro582Leu) n.694C>T n.6025C>T c.2003C>T (p.Pro668Leu) c.1829C>T (p.Pro610Leu) c.1805C>T (p.Pro602Leu) c.938C>T (p.Pro313Leu) c.851C>T (p.Pro284Leu) c.764C>T (p.Pro255Leu) n.664C>T | gnomAD v4 |
17 | g.45996583C>A | CA500644029 | MAPT | c.654C>A (p.Pro218=) c.567C>A (p.Pro189=) c.741C>A (p.Pro247=) n.605C>A c.1917C>A (p.Pro639=) c.1719C>A (p.Pro573=) c.1692C>A (p.Pro564=) c.1746C>A (p.Pro582=) n.695C>A n.6026C>A c.2004C>A (p.Pro668=) c.1830C>A (p.Pro610=) c.1806C>A (p.Pro602=) c.939C>A (p.Pro313=) c.852C>A (p.Pro284=) c.765C>A (p.Pro255=) n.665C>A | |
17 | g.45996583C= | CA2262095027 | MAPT | c.654C= (p.Pro218=) c.567C= (p.Pro189=) c.741C= (p.Pro247=) n.605C= c.1917C= (p.Pro639=) c.1719C= (p.Pro573=) c.1692C= (p.Pro564=) c.1746C= (p.Pro582=) n.695C= n.6026C= c.2004C= (p.Pro668=) c.1830C= (p.Pro610=) c.1806C= (p.Pro602=) c.939C= (p.Pro313=) c.852C= (p.Pro284=) c.765C= (p.Pro255=) n.665C= | |
17 | g.45996583C>G | CA500644030 | MAPT | c.654C>G (p.Pro218=) c.567C>G (p.Pro189=) c.741C>G (p.Pro247=) n.605C>G c.1917C>G (p.Pro639=) c.1719C>G (p.Pro573=) c.1692C>G (p.Pro564=) c.1746C>G (p.Pro582=) n.695C>G n.6026C>G c.2004C>G (p.Pro668=) c.1830C>G (p.Pro610=) c.1806C>G (p.Pro602=) c.939C>G (p.Pro313=) c.852C>G (p.Pro284=) c.765C>G (p.Pro255=) n.665C>G | |
17 | g.45996583C>T | CA291107188 | MAPT | c.654C>T (p.Pro218=) c.567C>T (p.Pro189=) c.741C>T (p.Pro247=) n.605C>T c.1917C>T (p.Pro639=) c.1719C>T (p.Pro573=) c.1692C>T (p.Pro564=) c.1746C>T (p.Pro582=) n.695C>T n.6026C>T c.2004C>T (p.Pro668=) c.1830C>T (p.Pro610=) c.1806C>T (p.Pro602=) c.939C>T (p.Pro313=) c.852C>T (p.Pro284=) c.765C>T (p.Pro255=) n.665C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996584G>A | CA8618057 | MAPT | c.655G>A (p.Val219Met) c.568G>A (p.Val190Met) c.742G>A (p.Val248Met) n.606G>A c.1918G>A (p.Val640Met) c.1720G>A (p.Val574Met) c.1693G>A (p.Val565Met) c.1747G>A (p.Val583Met) n.696G>A n.6027G>A c.2005G>A (p.Val669Met) c.1831G>A (p.Val611Met) c.1807G>A (p.Val603Met) c.940G>A (p.Val314Met) c.853G>A (p.Val285Met) c.766G>A (p.Val256Met) n.666G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.45996584G>C | CA8618058 | MAPT | c.655G>C (p.Val219Leu) c.568G>C (p.Val190Leu) c.742G>C (p.Val248Leu) n.606G>C c.1918G>C (p.Val640Leu) c.1720G>C (p.Val574Leu) c.1693G>C (p.Val565Leu) c.1747G>C (p.Val583Leu) n.696G>C n.6027G>C c.2005G>C (p.Val669Leu) c.1831G>C (p.Val611Leu) c.1807G>C (p.Val603Leu) c.940G>C (p.Val314Leu) c.853G>C (p.Val285Leu) c.766G>C (p.Val256Leu) n.666G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996584G= | CA2262095028 | MAPT | c.655G= (p.Val219=) c.568G= (p.Val190=) c.742G= (p.Val248=) n.606G= c.1918G= (p.Val640=) c.1720G= (p.Val574=) c.1693G= (p.Val565=) c.1747G= (p.Val583=) n.696G= n.6027G= c.2005G= (p.Val669=) c.1831G= (p.Val611=) c.1807G= (p.Val603=) c.940G= (p.Val314=) c.853G= (p.Val285=) c.766G= (p.Val256=) n.666G= | |
17 | g.45996584G>T | CA399978305 | MAPT | c.655G>T (p.Val219Leu) c.568G>T (p.Val190Leu) c.742G>T (p.Val248Leu) n.606G>T c.1918G>T (p.Val640Leu) c.1720G>T (p.Val574Leu) c.1693G>T (p.Val565Leu) c.1747G>T (p.Val583Leu) n.696G>T n.6027G>T c.2005G>T (p.Val669Leu) c.1831G>T (p.Val611Leu) c.1807G>T (p.Val603Leu) c.940G>T (p.Val314Leu) c.853G>T (p.Val285Leu) c.766G>T (p.Val256Leu) n.666G>T | gnomAD v4 |
17 | g.45996585T>A | CA399978306 | MAPT | c.656T>A (p.Val219Glu) c.569T>A (p.Val190Glu) c.743T>A (p.Val248Glu) n.607T>A c.1919T>A (p.Val640Glu) c.1721T>A (p.Val574Glu) c.1694T>A (p.Val565Glu) c.1748T>A (p.Val583Glu) n.697T>A n.6028T>A c.2006T>A (p.Val669Glu) c.1832T>A (p.Val611Glu) c.1808T>A (p.Val603Glu) c.941T>A (p.Val314Glu) c.854T>A (p.Val285Glu) c.767T>A (p.Val256Glu) n.667T>A | |
17 | g.45996585T>C | CA399978307 | MAPT | c.656T>C (p.Val219Ala) c.569T>C (p.Val190Ala) c.743T>C (p.Val248Ala) n.607T>C c.1919T>C (p.Val640Ala) c.1721T>C (p.Val574Ala) c.1694T>C (p.Val565Ala) c.1748T>C (p.Val583Ala) n.697T>C n.6028T>C c.2006T>C (p.Val669Ala) c.1832T>C (p.Val611Ala) c.1808T>C (p.Val603Ala) c.941T>C (p.Val314Ala) c.854T>C (p.Val285Ala) c.767T>C (p.Val256Ala) n.667T>C | |
17 | g.45996585T>G | CA399978308 | MAPT | c.656T>G (p.Val219Gly) c.569T>G (p.Val190Gly) c.743T>G (p.Val248Gly) n.607T>G c.1919T>G (p.Val640Gly) c.1721T>G (p.Val574Gly) c.1694T>G (p.Val565Gly) c.1748T>G (p.Val583Gly) n.697T>G n.6028T>G c.2006T>G (p.Val669Gly) c.1832T>G (p.Val611Gly) c.1808T>G (p.Val603Gly) c.941T>G (p.Val314Gly) c.854T>G (p.Val285Gly) c.767T>G (p.Val256Gly) n.667T>G | |
17 | g.45996586G>A | CA500644032 | MAPT | c.657G>A (p.Val219=) c.570G>A (p.Val190=) c.744G>A (p.Val248=) n.608G>A c.1920G>A (p.Val640=) c.1722G>A (p.Val574=) c.1695G>A (p.Val565=) c.1749G>A (p.Val583=) n.698G>A n.6029G>A c.2007G>A (p.Val669=) c.1833G>A (p.Val611=) c.1809G>A (p.Val603=) c.942G>A (p.Val314=) c.855G>A (p.Val285=) c.768G>A (p.Val256=) n.668G>A | |
17 | g.45996586G>C | CA500644031 | MAPT | c.657G>C (p.Val219=) c.570G>C (p.Val190=) c.744G>C (p.Val248=) n.608G>C c.1920G>C (p.Val640=) c.1722G>C (p.Val574=) c.1695G>C (p.Val565=) c.1749G>C (p.Val583=) n.698G>C n.6029G>C c.2007G>C (p.Val669=) c.1833G>C (p.Val611=) c.1809G>C (p.Val603=) c.942G>C (p.Val314=) c.855G>C (p.Val285=) c.768G>C (p.Val256=) n.668G>C | |
17 | g.45996586G>T | CA500644033 | MAPT | c.657G>T (p.Val219=) c.570G>T (p.Val190=) c.744G>T (p.Val248=) n.608G>T c.1920G>T (p.Val640=) c.1722G>T (p.Val574=) c.1695G>T (p.Val565=) c.1749G>T (p.Val583=) n.698G>T n.6029G>T c.2007G>T (p.Val669=) c.1833G>T (p.Val611=) c.1809G>T (p.Val603=) c.942G>T (p.Val314=) c.855G>T (p.Val285=) c.768G>T (p.Val256=) n.668G>T | |
17 | g.45996587C>A | CA399978311 | MAPT | c.658C>A (p.Pro220Thr) c.571C>A (p.Pro191Thr) c.745C>A (p.Pro249Thr) n.609C>A c.1921C>A (p.Pro641Thr) c.1723C>A (p.Pro575Thr) c.1696C>A (p.Pro566Thr) c.1750C>A (p.Pro584Thr) n.699C>A n.6030C>A c.2008C>A (p.Pro670Thr) c.1834C>A (p.Pro612Thr) c.1810C>A (p.Pro604Thr) c.943C>A (p.Pro315Thr) c.856C>A (p.Pro286Thr) c.769C>A (p.Pro257Thr) n.669C>A | |
17 | g.45996587C>G | CA399978310 | MAPT | c.658C>G (p.Pro220Ala) c.571C>G (p.Pro191Ala) c.745C>G (p.Pro249Ala) n.609C>G c.1921C>G (p.Pro641Ala) c.1723C>G (p.Pro575Ala) c.1696C>G (p.Pro566Ala) c.1750C>G (p.Pro584Ala) n.699C>G n.6030C>G c.2008C>G (p.Pro670Ala) c.1834C>G (p.Pro612Ala) c.1810C>G (p.Pro604Ala) c.943C>G (p.Pro315Ala) c.856C>G (p.Pro286Ala) c.769C>G (p.Pro257Ala) n.669C>G | |
17 | g.45996587C>T | CA399978309 | MAPT | c.658C>T (p.Pro220Ser) c.571C>T (p.Pro191Ser) c.745C>T (p.Pro249Ser) n.609C>T c.1921C>T (p.Pro641Ser) c.1723C>T (p.Pro575Ser) c.1696C>T (p.Pro566Ser) c.1750C>T (p.Pro584Ser) n.699C>T n.6030C>T c.2008C>T (p.Pro670Ser) c.1834C>T (p.Pro612Ser) c.1810C>T (p.Pro604Ser) c.943C>T (p.Pro315Ser) c.856C>T (p.Pro286Ser) c.769C>T (p.Pro257Ser) n.669C>T | |
17 | g.45996588C>A | CA399978312 | MAPT | c.659C>A (p.Pro220His) c.572C>A (p.Pro191His) c.746C>A (p.Pro249His) n.610C>A c.1922C>A (p.Pro641His) c.1724C>A (p.Pro575His) c.1697C>A (p.Pro566His) c.1751C>A (p.Pro584His) n.700C>A n.6031C>A c.2009C>A (p.Pro670His) c.1835C>A (p.Pro612His) c.1811C>A (p.Pro604His) c.944C>A (p.Pro315His) c.857C>A (p.Pro286His) c.770C>A (p.Pro257His) n.670C>A | |
17 | g.45996588C>G | CA399978314 | MAPT | c.659C>G (p.Pro220Arg) c.572C>G (p.Pro191Arg) c.746C>G (p.Pro249Arg) n.610C>G c.1922C>G (p.Pro641Arg) c.1724C>G (p.Pro575Arg) c.1697C>G (p.Pro566Arg) c.1751C>G (p.Pro584Arg) n.700C>G n.6031C>G c.2009C>G (p.Pro670Arg) c.1835C>G (p.Pro612Arg) c.1811C>G (p.Pro604Arg) c.944C>G (p.Pro315Arg) c.857C>G (p.Pro286Arg) c.770C>G (p.Pro257Arg) n.670C>G | |
17 | g.45996588C>T | CA399978313 | MAPT | c.659C>T (p.Pro220Leu) c.572C>T (p.Pro191Leu) c.746C>T (p.Pro249Leu) n.610C>T c.1922C>T (p.Pro641Leu) c.1724C>T (p.Pro575Leu) c.1697C>T (p.Pro566Leu) c.1751C>T (p.Pro584Leu) n.700C>T n.6031C>T c.2009C>T (p.Pro670Leu) c.1835C>T (p.Pro612Leu) c.1811C>T (p.Pro604Leu) c.944C>T (p.Pro315Leu) c.857C>T (p.Pro286Leu) c.770C>T (p.Pro257Leu) n.670C>T | |
17 | g.45996589C>A | CA500644034 | MAPT | c.660C>A (p.Pro220=) c.573C>A (p.Pro191=) c.747C>A (p.Pro249=) n.611C>A c.1923C>A (p.Pro641=) c.1725C>A (p.Pro575=) c.1698C>A (p.Pro566=) c.1752C>A (p.Pro584=) n.701C>A n.6032C>A c.2010C>A (p.Pro670=) c.1836C>A (p.Pro612=) c.1812C>A (p.Pro604=) c.945C>A (p.Pro315=) c.858C>A (p.Pro286=) c.771C>A (p.Pro257=) n.671C>A | |
17 | g.45996589C>G | CA500644036 | MAPT | c.660C>G (p.Pro220=) c.573C>G (p.Pro191=) c.747C>G (p.Pro249=) n.611C>G c.1923C>G (p.Pro641=) c.1725C>G (p.Pro575=) c.1698C>G (p.Pro566=) c.1752C>G (p.Pro584=) n.701C>G n.6032C>G c.2010C>G (p.Pro670=) c.1836C>G (p.Pro612=) c.1812C>G (p.Pro604=) c.945C>G (p.Pro315=) c.858C>G (p.Pro286=) c.771C>G (p.Pro257=) n.671C>G | |
17 | g.45996589C>T | CA500644035 | MAPT | c.660C>T (p.Pro220=) c.573C>T (p.Pro191=) c.747C>T (p.Pro249=) n.611C>T c.1923C>T (p.Pro641=) c.1725C>T (p.Pro575=) c.1698C>T (p.Pro566=) c.1752C>T (p.Pro584=) n.701C>T n.6032C>T c.2010C>T (p.Pro670=) c.1836C>T (p.Pro612=) c.1812C>T (p.Pro604=) c.945C>T (p.Pro315=) c.858C>T (p.Pro286=) c.771C>T (p.Pro257=) n.671C>T | COSMIC COSMIC |
17 | g.45996590A>C | CA399978315 | MAPT | c.661A>C (p.Met221Leu) c.574A>C (p.Met192Leu) c.748A>C (p.Met250Leu) n.612A>C c.1924A>C (p.Met642Leu) c.1726A>C (p.Met576Leu) c.1699A>C (p.Met567Leu) c.1753A>C (p.Met585Leu) n.702A>C n.6033A>C c.2011A>C (p.Met671Leu) c.1837A>C (p.Met613Leu) c.1813A>C (p.Met605Leu) c.946A>C (p.Met316Leu) c.859A>C (p.Met287Leu) c.772A>C (p.Met258Leu) n.672A>C | |
17 | g.45996590A>G | CA399978316 | MAPT | c.661A>G (p.Met221Val) c.574A>G (p.Met192Val) c.748A>G (p.Met250Val) n.612A>G c.1924A>G (p.Met642Val) c.1726A>G (p.Met576Val) c.1699A>G (p.Met567Val) c.1753A>G (p.Met585Val) n.702A>G n.6033A>G c.2011A>G (p.Met671Val) c.1837A>G (p.Met613Val) c.1813A>G (p.Met605Val) c.946A>G (p.Met316Val) c.859A>G (p.Met287Val) c.772A>G (p.Met258Val) n.672A>G | gnomAD v4 |
17 | g.45996590A>T | CA399978317 | MAPT | c.661A>T (p.Met221Leu) c.574A>T (p.Met192Leu) c.748A>T (p.Met250Leu) n.612A>T c.1924A>T (p.Met642Leu) c.1726A>T (p.Met576Leu) c.1699A>T (p.Met567Leu) c.1753A>T (p.Met585Leu) n.702A>T n.6033A>T c.2011A>T (p.Met671Leu) c.1837A>T (p.Met613Leu) c.1813A>T (p.Met605Leu) c.946A>T (p.Met316Leu) c.859A>T (p.Met287Leu) c.772A>T (p.Met258Leu) n.672A>T | |
17 | g.45996591T>A | CA399978318 | MAPT | c.662T>A (p.Met221Lys) c.575T>A (p.Met192Lys) c.749T>A (p.Met250Lys) n.613T>A c.1925T>A (p.Met642Lys) c.1727T>A (p.Met576Lys) c.1700T>A (p.Met567Lys) c.1754T>A (p.Met585Lys) n.703T>A n.6034T>A c.2012T>A (p.Met671Lys) c.1838T>A (p.Met613Lys) c.1814T>A (p.Met605Lys) c.947T>A (p.Met316Lys) c.860T>A (p.Met287Lys) c.773T>A (p.Met258Lys) n.673T>A | |
17 | g.45996591T>C | CA399978319 | MAPT | c.662T>C (p.Met221Thr) c.575T>C (p.Met192Thr) c.749T>C (p.Met250Thr) n.613T>C c.1925T>C (p.Met642Thr) c.1727T>C (p.Met576Thr) c.1700T>C (p.Met567Thr) c.1754T>C (p.Met585Thr) n.703T>C n.6034T>C c.2012T>C (p.Met671Thr) c.1838T>C (p.Met613Thr) c.1814T>C (p.Met605Thr) c.947T>C (p.Met316Thr) c.860T>C (p.Met287Thr) c.773T>C (p.Met258Thr) n.673T>C | |
17 | g.45996591T>G | CA399978320 | MAPT | c.662T>G (p.Met221Arg) c.575T>G (p.Met192Arg) c.749T>G (p.Met250Arg) n.613T>G c.1925T>G (p.Met642Arg) c.1727T>G (p.Met576Arg) c.1700T>G (p.Met567Arg) c.1754T>G (p.Met585Arg) n.703T>G n.6034T>G c.2012T>G (p.Met671Arg) c.1838T>G (p.Met613Arg) c.1814T>G (p.Met605Arg) c.947T>G (p.Met316Arg) c.860T>G (p.Met287Arg) c.773T>G (p.Met258Arg) n.673T>G | |
17 | g.45996592G>A | CA399978321 | MAPT | c.663G>A (p.Met221Ile) c.576G>A (p.Met192Ile) c.750G>A (p.Met250Ile) n.614G>A c.1926G>A (p.Met642Ile) c.1728G>A (p.Met576Ile) c.1701G>A (p.Met567Ile) c.1755G>A (p.Met585Ile) n.704G>A n.6035G>A c.2013G>A (p.Met671Ile) c.1839G>A (p.Met613Ile) c.1815G>A (p.Met605Ile) c.948G>A (p.Met316Ile) c.861G>A (p.Met287Ile) c.774G>A (p.Met258Ile) n.674G>A | |
17 | g.45996592G>C | CA399978322 | MAPT | c.663G>C (p.Met221Ile) c.576G>C (p.Met192Ile) c.750G>C (p.Met250Ile) n.614G>C c.1926G>C (p.Met642Ile) c.1728G>C (p.Met576Ile) c.1701G>C (p.Met567Ile) c.1755G>C (p.Met585Ile) n.704G>C n.6035G>C c.2013G>C (p.Met671Ile) c.1839G>C (p.Met613Ile) c.1815G>C (p.Met605Ile) c.948G>C (p.Met316Ile) c.861G>C (p.Met287Ile) c.774G>C (p.Met258Ile) n.674G>C | |
17 | g.45996592G>T | CA399978323 | MAPT | c.663G>T (p.Met221Ile) c.576G>T (p.Met192Ile) c.750G>T (p.Met250Ile) n.614G>T c.1926G>T (p.Met642Ile) c.1728G>T (p.Met576Ile) c.1701G>T (p.Met567Ile) c.1755G>T (p.Met585Ile) n.704G>T n.6035G>T c.2013G>T (p.Met671Ile) c.1839G>T (p.Met613Ile) c.1815G>T (p.Met605Ile) c.948G>T (p.Met316Ile) c.861G>T (p.Met287Ile) c.774G>T (p.Met258Ile) n.674G>T | |
17 | g.45996593C>A | CA399978324 | MAPT | c.664C>A (p.Pro222Thr) c.577C>A (p.Pro193Thr) c.751C>A (p.Pro251Thr) n.615C>A c.1927C>A (p.Pro643Thr) c.1729C>A (p.Pro577Thr) c.1702C>A (p.Pro568Thr) c.1756C>A (p.Pro586Thr) n.705C>A n.6036C>A c.2014C>A (p.Pro672Thr) c.1840C>A (p.Pro614Thr) c.1816C>A (p.Pro606Thr) c.949C>A (p.Pro317Thr) c.862C>A (p.Pro288Thr) c.775C>A (p.Pro259Thr) n.675C>A | |
17 | g.45996593C= | CA2262095029 | MAPT | c.664C= (p.Pro222=) c.577C= (p.Pro193=) c.751C= (p.Pro251=) n.615C= c.1927C= (p.Pro643=) c.1729C= (p.Pro577=) c.1702C= (p.Pro568=) c.1756C= (p.Pro586=) n.705C= n.6036C= c.2014C= (p.Pro672=) c.1840C= (p.Pro614=) c.1816C= (p.Pro606=) c.949C= (p.Pro317=) c.862C= (p.Pro288=) c.775C= (p.Pro259=) n.675C= | |
17 | g.45996593C>G | CA8618059 | MAPT | c.664C>G (p.Pro222Ala) c.577C>G (p.Pro193Ala) c.751C>G (p.Pro251Ala) n.615C>G c.1927C>G (p.Pro643Ala) c.1729C>G (p.Pro577Ala) c.1702C>G (p.Pro568Ala) c.1756C>G (p.Pro586Ala) n.705C>G n.6036C>G c.2014C>G (p.Pro672Ala) c.1840C>G (p.Pro614Ala) c.1816C>G (p.Pro606Ala) c.949C>G (p.Pro317Ala) c.862C>G (p.Pro288Ala) c.775C>G (p.Pro259Ala) n.675C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996593C>T | CA399978325 | MAPT | c.664C>T (p.Pro222Ser) c.577C>T (p.Pro193Ser) c.751C>T (p.Pro251Ser) n.615C>T c.1927C>T (p.Pro643Ser) c.1729C>T (p.Pro577Ser) c.1702C>T (p.Pro568Ser) c.1756C>T (p.Pro586Ser) n.705C>T n.6036C>T c.2014C>T (p.Pro672Ser) c.1840C>T (p.Pro614Ser) c.1816C>T (p.Pro606Ser) c.949C>T (p.Pro317Ser) c.862C>T (p.Pro288Ser) c.775C>T (p.Pro259Ser) n.675C>T | gnomAD v4 |
17 | g.45996594C>A | CA399978328 | MAPT | c.665C>A (p.Pro222Gln) c.578C>A (p.Pro193Gln) c.752C>A (p.Pro251Gln) n.616C>A c.1928C>A (p.Pro643Gln) c.1730C>A (p.Pro577Gln) c.1703C>A (p.Pro568Gln) c.1757C>A (p.Pro586Gln) n.706C>A n.6037C>A c.2015C>A (p.Pro672Gln) c.1841C>A (p.Pro614Gln) c.1817C>A (p.Pro606Gln) c.950C>A (p.Pro317Gln) c.863C>A (p.Pro288Gln) c.776C>A (p.Pro259Gln) n.676C>A | |
17 | g.45996594C>G | CA399978326 | MAPT | c.665C>G (p.Pro222Arg) c.578C>G (p.Pro193Arg) c.752C>G (p.Pro251Arg) n.616C>G c.1928C>G (p.Pro643Arg) c.1730C>G (p.Pro577Arg) c.1703C>G (p.Pro568Arg) c.1757C>G (p.Pro586Arg) n.706C>G n.6037C>G c.2015C>G (p.Pro672Arg) c.1841C>G (p.Pro614Arg) c.1817C>G (p.Pro606Arg) c.950C>G (p.Pro317Arg) c.863C>G (p.Pro288Arg) c.776C>G (p.Pro259Arg) n.676C>G | |
17 | g.45996594C>T | CA399978327 | MAPT | c.665C>T (p.Pro222Leu) c.578C>T (p.Pro193Leu) c.752C>T (p.Pro251Leu) n.616C>T c.1928C>T (p.Pro643Leu) c.1730C>T (p.Pro577Leu) c.1703C>T (p.Pro568Leu) c.1757C>T (p.Pro586Leu) n.706C>T n.6037C>T c.2015C>T (p.Pro672Leu) c.1841C>T (p.Pro614Leu) c.1817C>T (p.Pro606Leu) c.950C>T (p.Pro317Leu) c.863C>T (p.Pro288Leu) c.776C>T (p.Pro259Leu) n.676C>T | |
17 | g.45996595A>C | CA500644037 | MAPT | c.666A>C (p.Pro222=) c.579A>C (p.Pro193=) c.753A>C (p.Pro251=) n.617A>C c.1929A>C (p.Pro643=) c.1731A>C (p.Pro577=) c.1704A>C (p.Pro568=) c.1758A>C (p.Pro586=) n.707A>C n.6038A>C c.2016A>C (p.Pro672=) c.1842A>C (p.Pro614=) c.1818A>C (p.Pro606=) c.951A>C (p.Pro317=) c.864A>C (p.Pro288=) c.777A>C (p.Pro259=) n.677A>C | |
17 | g.45996595A>G | CA500644038 | MAPT | c.666A>G (p.Pro222=) c.579A>G (p.Pro193=) c.753A>G (p.Pro251=) n.617A>G c.1929A>G (p.Pro643=) c.1731A>G (p.Pro577=) c.1704A>G (p.Pro568=) c.1758A>G (p.Pro586=) n.707A>G n.6038A>G c.2016A>G (p.Pro672=) c.1842A>G (p.Pro614=) c.1818A>G (p.Pro606=) c.951A>G (p.Pro317=) c.864A>G (p.Pro288=) c.777A>G (p.Pro259=) n.677A>G | |
17 | g.45996595A>T | CA500644039 | MAPT | c.666A>T (p.Pro222=) c.579A>T (p.Pro193=) c.753A>T (p.Pro251=) n.617A>T c.1929A>T (p.Pro643=) c.1731A>T (p.Pro577=) c.1704A>T (p.Pro568=) c.1758A>T (p.Pro586=) n.707A>T n.6038A>T c.2016A>T (p.Pro672=) c.1842A>T (p.Pro614=) c.1818A>T (p.Pro606=) c.951A>T (p.Pro317=) c.864A>T (p.Pro288=) c.777A>T (p.Pro259=) n.677A>T | |
17 | g.45996596G>A | CA399978329 | MAPT | c.667G>A (p.Asp223Asn) c.580G>A (p.Asp194Asn) c.754G>A (p.Asp252Asn) n.618G>A c.1930G>A (p.Asp644Asn) c.1732G>A (p.Asp578Asn) c.1705G>A (p.Asp569Asn) c.1759G>A (p.Asp587Asn) n.708G>A n.6039G>A c.2017G>A (p.Asp673Asn) c.1843G>A (p.Asp615Asn) c.1819G>A (p.Asp607Asn) c.952G>A (p.Asp318Asn) c.865G>A (p.Asp289Asn) c.778G>A (p.Asp260Asn) n.678G>A | gnomAD v4 |
17 | g.45996596G>C | CA399978330 | MAPT | c.667G>C (p.Asp223His) c.580G>C (p.Asp194His) c.754G>C (p.Asp252His) n.618G>C c.1930G>C (p.Asp644His) c.1732G>C (p.Asp578His) c.1705G>C (p.Asp569His) c.1759G>C (p.Asp587His) n.708G>C n.6039G>C c.2017G>C (p.Asp673His) c.1843G>C (p.Asp615His) c.1819G>C (p.Asp607His) c.952G>C (p.Asp318His) c.865G>C (p.Asp289His) c.778G>C (p.Asp260His) n.678G>C | |
17 | g.45996596G>T | CA399978331 | MAPT | c.667G>T (p.Asp223Tyr) c.580G>T (p.Asp194Tyr) c.754G>T (p.Asp252Tyr) n.618G>T c.1930G>T (p.Asp644Tyr) c.1732G>T (p.Asp578Tyr) c.1705G>T (p.Asp569Tyr) c.1759G>T (p.Asp587Tyr) n.708G>T n.6039G>T c.2017G>T (p.Asp673Tyr) c.1843G>T (p.Asp615Tyr) c.1819G>T (p.Asp607Tyr) c.952G>T (p.Asp318Tyr) c.865G>T (p.Asp289Tyr) c.778G>T (p.Asp260Tyr) n.678G>T | |
17 | g.45996597A= | CA2262095030 | MAPT | c.668A= (p.Asp223=) c.581A= (p.Asp194=) c.755A= (p.Asp252=) n.619A= c.1931A= (p.Asp644=) c.1733A= (p.Asp578=) c.1706A= (p.Asp569=) c.1760A= (p.Asp587=) n.709A= n.6040A= c.2018A= (p.Asp673=) c.1844A= (p.Asp615=) c.1820A= (p.Asp607=) c.953A= (p.Asp318=) c.866A= (p.Asp289=) c.779A= (p.Asp260=) n.679A= | |
17 | g.45996597A>C | CA399978332 | MAPT | c.668A>C (p.Asp223Ala) c.581A>C (p.Asp194Ala) c.755A>C (p.Asp252Ala) n.619A>C c.1931A>C (p.Asp644Ala) c.1733A>C (p.Asp578Ala) c.1706A>C (p.Asp569Ala) c.1760A>C (p.Asp587Ala) n.709A>C n.6040A>C c.2018A>C (p.Asp673Ala) c.1844A>C (p.Asp615Ala) c.1820A>C (p.Asp607Ala) c.953A>C (p.Asp318Ala) c.866A>C (p.Asp289Ala) c.779A>C (p.Asp260Ala) n.679A>C | |
17 | g.45996597A>G | CA399978333 | MAPT | c.668A>G (p.Asp223Gly) c.581A>G (p.Asp194Gly) c.755A>G (p.Asp252Gly) n.619A>G c.1931A>G (p.Asp644Gly) c.1733A>G (p.Asp578Gly) c.1706A>G (p.Asp569Gly) c.1760A>G (p.Asp587Gly) n.709A>G n.6040A>G c.2018A>G (p.Asp673Gly) c.1844A>G (p.Asp615Gly) c.1820A>G (p.Asp607Gly) c.953A>G (p.Asp318Gly) c.866A>G (p.Asp289Gly) c.779A>G (p.Asp260Gly) n.679A>G | gnomAD v4 |
17 | g.45996597A>T | CA399978334 | MAPT | c.668A>T (p.Asp223Val) c.581A>T (p.Asp194Val) c.755A>T (p.Asp252Val) n.619A>T c.1931A>T (p.Asp644Val) c.1733A>T (p.Asp578Val) c.1706A>T (p.Asp569Val) c.1760A>T (p.Asp587Val) n.709A>T n.6040A>T c.2018A>T (p.Asp673Val) c.1844A>T (p.Asp615Val) c.1820A>T (p.Asp607Val) c.953A>T (p.Asp318Val) c.866A>T (p.Asp289Val) c.779A>T (p.Asp260Val) n.679A>T | gnomAD v4 |
17 | g.45996598C>A | CA399978335 | MAPT | c.669C>A (p.Asp223Glu) c.582C>A (p.Asp194Glu) c.756C>A (p.Asp252Glu) n.620C>A c.1932C>A (p.Asp644Glu) c.1734C>A (p.Asp578Glu) c.1707C>A (p.Asp569Glu) c.1761C>A (p.Asp587Glu) n.710C>A n.6041C>A c.2019C>A (p.Asp673Glu) c.1845C>A (p.Asp615Glu) c.1821C>A (p.Asp607Glu) c.954C>A (p.Asp318Glu) c.867C>A (p.Asp289Glu) c.780C>A (p.Asp260Glu) n.680C>A | |
17 | g.45996598C>G | CA399978336 | MAPT | c.669C>G (p.Asp223Glu) c.582C>G (p.Asp194Glu) c.756C>G (p.Asp252Glu) n.620C>G c.1932C>G (p.Asp644Glu) c.1734C>G (p.Asp578Glu) c.1707C>G (p.Asp569Glu) c.1761C>G (p.Asp587Glu) n.710C>G n.6041C>G c.2019C>G (p.Asp673Glu) c.1845C>G (p.Asp615Glu) c.1821C>G (p.Asp607Glu) c.954C>G (p.Asp318Glu) c.867C>G (p.Asp289Glu) c.780C>G (p.Asp260Glu) n.680C>G | |
17 | g.45996598C>T | CA500644040 | MAPT | c.669C>T (p.Asp223=) c.582C>T (p.Asp194=) c.756C>T (p.Asp252=) n.620C>T c.1932C>T (p.Asp644=) c.1734C>T (p.Asp578=) c.1707C>T (p.Asp569=) c.1761C>T (p.Asp587=) n.710C>T n.6041C>T c.2019C>T (p.Asp673=) c.1845C>T (p.Asp615=) c.1821C>T (p.Asp607=) c.954C>T (p.Asp318=) c.867C>T (p.Asp289=) c.780C>T (p.Asp260=) n.680C>T | |
17 | g.45996598_45996599dup | CA626683705 | MAPT | c.669_670dup (p.Leu224ProfsTer2) c.582_583dup (p.Leu195ProfsTer2) c.756_757dup (p.Leu253ProfsTer2) n.620_621dup c.1932_1933dup (p.Leu645ProfsTer2) c.1734_1735dup (p.Leu579ProfsTer2) c.1707_1708dup (p.Leu570ProfsTer2) c.1761_1762dup (p.Leu588ProfsTer2) n.710_711dup n.6041_6042dup c.2019_2020dup (p.Leu674ProfsTer2) c.1845_1846dup (p.Leu616ProfsTer2) c.1821_1822dup (p.Leu608ProfsTer2) c.954_955dup (p.Leu319ProfsTer2) c.867_868dup (p.Leu290ProfsTer2) c.780_781dup (p.Leu261ProfsTer2) n.680_681dup | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996599C>A | CA399978337 | MAPT | c.670C>A (p.Leu224Met) c.583C>A (p.Leu195Met) c.757C>A (p.Leu253Met) n.621C>A c.1933C>A (p.Leu645Met) c.1735C>A (p.Leu579Met) c.1708C>A (p.Leu570Met) c.1762C>A (p.Leu588Met) n.711C>A n.6042C>A c.2020C>A (p.Leu674Met) c.1846C>A (p.Leu616Met) c.1822C>A (p.Leu608Met) c.955C>A (p.Leu319Met) c.868C>A (p.Leu290Met) c.781C>A (p.Leu261Met) n.681C>A | |
17 | g.45996599C>G | CA399978338 | MAPT | c.670C>G (p.Leu224Val) c.583C>G (p.Leu195Val) c.757C>G (p.Leu253Val) n.621C>G c.1933C>G (p.Leu645Val) c.1735C>G (p.Leu579Val) c.1708C>G (p.Leu570Val) c.1762C>G (p.Leu588Val) n.711C>G n.6042C>G c.2020C>G (p.Leu674Val) c.1846C>G (p.Leu616Val) c.1822C>G (p.Leu608Val) c.955C>G (p.Leu319Val) c.868C>G (p.Leu290Val) c.781C>G (p.Leu261Val) n.681C>G | gnomAD v4 |
17 | g.45996599C>T | CA500644041 | MAPT | c.670C>T (p.Leu224=) c.583C>T (p.Leu195=) c.757C>T (p.Leu253=) n.621C>T c.1933C>T (p.Leu645=) c.1735C>T (p.Leu579=) c.1708C>T (p.Leu570=) c.1762C>T (p.Leu588=) n.711C>T n.6042C>T c.2020C>T (p.Leu674=) c.1846C>T (p.Leu616=) c.1822C>T (p.Leu608=) c.955C>T (p.Leu319=) c.868C>T (p.Leu290=) c.781C>T (p.Leu261=) n.681C>T | gnomAD v4 |
17 | g.45996600T>A | CA399978341 | MAPT | c.671T>A (p.Leu224Gln) c.584T>A (p.Leu195Gln) c.758T>A (p.Leu253Gln) n.622T>A c.1934T>A (p.Leu645Gln) c.1736T>A (p.Leu579Gln) c.1709T>A (p.Leu570Gln) c.1763T>A (p.Leu588Gln) n.712T>A n.6043T>A c.2021T>A (p.Leu674Gln) c.1847T>A (p.Leu616Gln) c.1823T>A (p.Leu608Gln) c.956T>A (p.Leu319Gln) c.869T>A (p.Leu290Gln) c.782T>A (p.Leu261Gln) n.682T>A | |
17 | g.45996600T>C | CA399978340 | MAPT | c.671T>C (p.Leu224Pro) c.584T>C (p.Leu195Pro) c.758T>C (p.Leu253Pro) n.622T>C c.1934T>C (p.Leu645Pro) c.1736T>C (p.Leu579Pro) c.1709T>C (p.Leu570Pro) c.1763T>C (p.Leu588Pro) n.712T>C n.6043T>C c.2021T>C (p.Leu674Pro) c.1847T>C (p.Leu616Pro) c.1823T>C (p.Leu608Pro) c.956T>C (p.Leu319Pro) c.869T>C (p.Leu290Pro) c.782T>C (p.Leu261Pro) n.682T>C | |
17 | g.45996600T>G | CA399978339 | MAPT | c.671T>G (p.Leu224Arg) c.584T>G (p.Leu195Arg) c.758T>G (p.Leu253Arg) n.622T>G c.1934T>G (p.Leu645Arg) c.1736T>G (p.Leu579Arg) c.1709T>G (p.Leu570Arg) c.1763T>G (p.Leu588Arg) n.712T>G n.6043T>G c.2021T>G (p.Leu674Arg) c.1847T>G (p.Leu616Arg) c.1823T>G (p.Leu608Arg) c.956T>G (p.Leu319Arg) c.869T>G (p.Leu290Arg) c.782T>G (p.Leu261Arg) n.682T>G | |
17 | g.45996601G>A | CA500644042 | MAPT | c.672G>A (p.Leu224=) c.585G>A (p.Leu195=) c.759G>A (p.Leu253=) n.623G>A c.1935G>A (p.Leu645=) c.1737G>A (p.Leu579=) c.1710G>A (p.Leu570=) c.1764G>A (p.Leu588=) n.713G>A n.6044G>A c.2022G>A (p.Leu674=) c.1848G>A (p.Leu616=) c.1824G>A (p.Leu608=) c.957G>A (p.Leu319=) c.870G>A (p.Leu290=) c.783G>A (p.Leu261=) n.683G>A | gnomAD v4 |
17 | g.45996601G>C | CA500644044 | MAPT | c.672G>C (p.Leu224=) c.585G>C (p.Leu195=) c.759G>C (p.Leu253=) n.623G>C c.1935G>C (p.Leu645=) c.1737G>C (p.Leu579=) c.1710G>C (p.Leu570=) c.1764G>C (p.Leu588=) n.713G>C n.6044G>C c.2022G>C (p.Leu674=) c.1848G>C (p.Leu616=) c.1824G>C (p.Leu608=) c.957G>C (p.Leu319=) c.870G>C (p.Leu290=) c.783G>C (p.Leu261=) n.683G>C | |
17 | g.45996601G>T | CA500644043 | MAPT | c.672G>T (p.Leu224=) c.585G>T (p.Leu195=) c.759G>T (p.Leu253=) n.623G>T c.1935G>T (p.Leu645=) c.1737G>T (p.Leu579=) c.1710G>T (p.Leu570=) c.1764G>T (p.Leu588=) n.713G>T n.6044G>T c.2022G>T (p.Leu674=) c.1848G>T (p.Leu616=) c.1824G>T (p.Leu608=) c.957G>T (p.Leu319=) c.870G>T (p.Leu290=) c.783G>T (p.Leu261=) n.683G>T | |
17 | g.45996602A>C | CA399978342 | MAPT | c.673A>C (p.Lys225Gln) c.586A>C (p.Lys196Gln) c.760A>C (p.Lys254Gln) n.624A>C c.1936A>C (p.Lys646Gln) c.1738A>C (p.Lys580Gln) c.1711A>C (p.Lys571Gln) c.1765A>C (p.Lys589Gln) n.714A>C n.6045A>C c.2023A>C (p.Lys675Gln) c.1849A>C (p.Lys617Gln) c.1825A>C (p.Lys609Gln) c.958A>C (p.Lys320Gln) c.871A>C (p.Lys291Gln) c.784A>C (p.Lys262Gln) n.684A>C | |
17 | g.45996602A>G | CA399978343 | MAPT | c.673A>G (p.Lys225Glu) c.586A>G (p.Lys196Glu) c.760A>G (p.Lys254Glu) n.624A>G c.1936A>G (p.Lys646Glu) c.1738A>G (p.Lys580Glu) c.1711A>G (p.Lys571Glu) c.1765A>G (p.Lys589Glu) n.714A>G n.6045A>G c.2023A>G (p.Lys675Glu) c.1849A>G (p.Lys617Glu) c.1825A>G (p.Lys609Glu) c.958A>G (p.Lys320Glu) c.871A>G (p.Lys291Glu) c.784A>G (p.Lys262Glu) n.684A>G | COSMIC COSMIC |
17 | g.45996602A>T | CA399978344 | MAPT | c.673A>T (p.Lys225Ter) c.586A>T (p.Lys196Ter) c.760A>T (p.Lys254Ter) n.624A>T c.1936A>T (p.Lys646Ter) c.1738A>T (p.Lys580Ter) c.1711A>T (p.Lys571Ter) c.1765A>T (p.Lys589Ter) n.714A>T n.6045A>T c.2023A>T (p.Lys675Ter) c.1849A>T (p.Lys617Ter) c.1825A>T (p.Lys609Ter) c.958A>T (p.Lys320Ter) c.871A>T (p.Lys291Ter) c.784A>T (p.Lys262Ter) n.684A>T | |
17 | g.45996603A>C | CA399978345 | MAPT | c.674A>C (p.Lys225Thr) c.587A>C (p.Lys196Thr) c.761A>C (p.Lys254Thr) n.625A>C c.1937A>C (p.Lys646Thr) c.1739A>C (p.Lys580Thr) c.1712A>C (p.Lys571Thr) c.1766A>C (p.Lys589Thr) n.715A>C n.6046A>C c.2024A>C (p.Lys675Thr) c.1850A>C (p.Lys617Thr) c.1826A>C (p.Lys609Thr) c.959A>C (p.Lys320Thr) c.872A>C (p.Lys291Thr) c.785A>C (p.Lys262Thr) n.685A>C | |
17 | g.45996603A>G | CA399978346 | MAPT | c.674A>G (p.Lys225Arg) c.587A>G (p.Lys196Arg) c.761A>G (p.Lys254Arg) n.625A>G c.1937A>G (p.Lys646Arg) c.1739A>G (p.Lys580Arg) c.1712A>G (p.Lys571Arg) c.1766A>G (p.Lys589Arg) n.715A>G n.6046A>G c.2024A>G (p.Lys675Arg) c.1850A>G (p.Lys617Arg) c.1826A>G (p.Lys609Arg) c.959A>G (p.Lys320Arg) c.872A>G (p.Lys291Arg) c.785A>G (p.Lys262Arg) n.685A>G | |
17 | g.45996603A>T | CA399978347 | MAPT | c.674A>T (p.Lys225Met) c.587A>T (p.Lys196Met) c.761A>T (p.Lys254Met) n.625A>T c.1937A>T (p.Lys646Met) c.1739A>T (p.Lys580Met) c.1712A>T (p.Lys571Met) c.1766A>T (p.Lys589Met) n.715A>T n.6046A>T c.2024A>T (p.Lys675Met) c.1850A>T (p.Lys617Met) c.1826A>T (p.Lys609Met) c.959A>T (p.Lys320Met) c.872A>T (p.Lys291Met) c.785A>T (p.Lys262Met) n.685A>T | |
17 | g.45996604G>A | CA8618060 | MAPT | c.675G>A (p.Lys225=) c.588G>A (p.Lys196=) c.762G>A (p.Lys254=) n.626G>A c.1938G>A (p.Lys646=) c.1740G>A (p.Lys580=) c.1713G>A (p.Lys571=) c.1767G>A (p.Lys589=) n.716G>A n.6047G>A c.2025G>A (p.Lys675=) c.1851G>A (p.Lys617=) c.1827G>A (p.Lys609=) c.960G>A (p.Lys320=) c.873G>A (p.Lys291=) c.786G>A (p.Lys262=) n.686G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996604G>C | CA399978348 | MAPT | c.675G>C (p.Lys225Asn) c.588G>C (p.Lys196Asn) c.762G>C (p.Lys254Asn) n.626G>C c.1938G>C (p.Lys646Asn) c.1740G>C (p.Lys580Asn) c.1713G>C (p.Lys571Asn) c.1767G>C (p.Lys589Asn) n.716G>C n.6047G>C c.2025G>C (p.Lys675Asn) c.1851G>C (p.Lys617Asn) c.1827G>C (p.Lys609Asn) c.960G>C (p.Lys320Asn) c.873G>C (p.Lys291Asn) c.786G>C (p.Lys262Asn) n.686G>C | |
17 | g.45996604G= | CA2262095031 | MAPT | c.675G= (p.Lys225=) c.588G= (p.Lys196=) c.762G= (p.Lys254=) n.626G= c.1938G= (p.Lys646=) c.1740G= (p.Lys580=) c.1713G= (p.Lys571=) c.1767G= (p.Lys589=) n.716G= n.6047G= c.2025G= (p.Lys675=) c.1851G= (p.Lys617=) c.1827G= (p.Lys609=) c.960G= (p.Lys320=) c.873G= (p.Lys291=) c.786G= (p.Lys262=) n.686G= | |
17 | g.45996604G>T | CA399978349 | MAPT | c.675G>T (p.Lys225Asn) c.588G>T (p.Lys196Asn) c.762G>T (p.Lys254Asn) n.626G>T c.1938G>T (p.Lys646Asn) c.1740G>T (p.Lys580Asn) c.1713G>T (p.Lys571Asn) c.1767G>T (p.Lys589Asn) n.716G>T n.6047G>T c.2025G>T (p.Lys675Asn) c.1851G>T (p.Lys617Asn) c.1827G>T (p.Lys609Asn) c.960G>T (p.Lys320Asn) c.873G>T (p.Lys291Asn) c.786G>T (p.Lys262Asn) n.686G>T | |
17 | g.45996605A>C | CA399978350 | MAPT | c.676A>C (p.Asn226His) c.589A>C (p.Asn197His) c.763A>C (p.Asn255His) n.627A>C c.1939A>C (p.Asn647His) c.1741A>C (p.Asn581His) c.1714A>C (p.Asn572His) c.1768A>C (p.Asn590His) n.717A>C n.6048A>C c.2026A>C (p.Asn676His) c.1852A>C (p.Asn618His) c.1828A>C (p.Asn610His) c.961A>C (p.Asn321His) c.874A>C (p.Asn292His) c.787A>C (p.Asn263His) n.687A>C | |
17 | g.45996605A>G | CA399978351 | MAPT | c.676A>G (p.Asn226Asp) c.589A>G (p.Asn197Asp) c.763A>G (p.Asn255Asp) n.627A>G c.1939A>G (p.Asn647Asp) c.1741A>G (p.Asn581Asp) c.1714A>G (p.Asn572Asp) c.1768A>G (p.Asn590Asp) n.717A>G n.6048A>G c.2026A>G (p.Asn676Asp) c.1852A>G (p.Asn618Asp) c.1828A>G (p.Asn610Asp) c.961A>G (p.Asn321Asp) c.874A>G (p.Asn292Asp) c.787A>G (p.Asn263Asp) n.687A>G | gnomAD v4 |
17 | g.45996605A>T | CA399978352 | MAPT | c.676A>T (p.Asn226Tyr) c.589A>T (p.Asn197Tyr) c.763A>T (p.Asn255Tyr) n.627A>T c.1939A>T (p.Asn647Tyr) c.1741A>T (p.Asn581Tyr) c.1714A>T (p.Asn572Tyr) c.1768A>T (p.Asn590Tyr) n.717A>T n.6048A>T c.2026A>T (p.Asn676Tyr) c.1852A>T (p.Asn618Tyr) c.1828A>T (p.Asn610Tyr) c.961A>T (p.Asn321Tyr) c.874A>T (p.Asn292Tyr) c.787A>T (p.Asn263Tyr) n.687A>T | |
17 | g.45996607_45996612del | CA645579839 | MAPT | c.678_683del (p.Asn226_Val227del) c.591_596del (p.Asn197_Val198del) c.765_770del (p.Asn255_Val256del) n.629_634del c.1941_1946del (p.Asn647_Val648del) c.1743_1748del (p.Asn581_Val582del) c.1716_1721del (p.Asn572_Val573del) c.1770_1775del (p.Asn590_Val591del) n.719_724del n.6050_6055del c.2028_2033del (p.Asn676_Val677del) c.1854_1859del (p.Asn618_Val619del) c.1830_1835del (p.Asn610_Val611del) c.963_968del (p.Asn321_Val322del) c.876_881del (p.Asn292_Val293del) c.789_794del (p.Asn263_Val264del) n.689_694del | COSMIC COSMIC COSMIC |
17 | g.45996606A>C | CA399978355 | MAPT | c.677A>C (p.Asn226Thr) c.590A>C (p.Asn197Thr) c.764A>C (p.Asn255Thr) n.628A>C c.1940A>C (p.Asn647Thr) c.1742A>C (p.Asn581Thr) c.1715A>C (p.Asn572Thr) c.1769A>C (p.Asn590Thr) n.718A>C n.6049A>C c.2027A>C (p.Asn676Thr) c.1853A>C (p.Asn618Thr) c.1829A>C (p.Asn610Thr) c.962A>C (p.Asn321Thr) c.875A>C (p.Asn292Thr) c.788A>C (p.Asn263Thr) n.688A>C | |
17 | g.45996606A>G | CA399978353 | MAPT | c.677A>G (p.Asn226Ser) c.590A>G (p.Asn197Ser) c.764A>G (p.Asn255Ser) n.628A>G c.1940A>G (p.Asn647Ser) c.1742A>G (p.Asn581Ser) c.1715A>G (p.Asn572Ser) c.1769A>G (p.Asn590Ser) n.718A>G n.6049A>G c.2027A>G (p.Asn676Ser) c.1853A>G (p.Asn618Ser) c.1829A>G (p.Asn610Ser) c.962A>G (p.Asn321Ser) c.875A>G (p.Asn292Ser) c.788A>G (p.Asn263Ser) n.688A>G | gnomAD v4 |
17 | g.45996606A>T | CA399978354 | MAPT | c.677A>T (p.Asn226Ile) c.590A>T (p.Asn197Ile) c.764A>T (p.Asn255Ile) n.628A>T c.1940A>T (p.Asn647Ile) c.1742A>T (p.Asn581Ile) c.1715A>T (p.Asn572Ile) c.1769A>T (p.Asn590Ile) n.718A>T n.6049A>T c.2027A>T (p.Asn676Ile) c.1853A>T (p.Asn618Ile) c.1829A>T (p.Asn610Ile) c.962A>T (p.Asn321Ile) c.875A>T (p.Asn292Ile) c.788A>T (p.Asn263Ile) n.688A>T | |
17 | g.45996607T>A | CA399978356 | MAPT | c.678T>A (p.Asn226Lys) c.591T>A (p.Asn197Lys) c.765T>A (p.Asn255Lys) n.629T>A c.1941T>A (p.Asn647Lys) c.1743T>A (p.Asn581Lys) c.1716T>A (p.Asn572Lys) c.1770T>A (p.Asn590Lys) n.719T>A n.6050T>A c.2028T>A (p.Asn676Lys) c.1854T>A (p.Asn618Lys) c.1830T>A (p.Asn610Lys) c.963T>A (p.Asn321Lys) c.876T>A (p.Asn292Lys) c.789T>A (p.Asn263Lys) n.689T>A | |
17 | g.45996607T>C | CA225411 | MAPT | c.678T>C (p.Asn226=) c.591T>C (p.Asn197=) c.765T>C (p.Asn255=) n.629T>C c.1941T>C (p.Asn647=) c.1743T>C (p.Asn581=) c.1716T>C (p.Asn572=) c.1770T>C (p.Asn590=) n.719T>C n.6050T>C c.2028T>C (p.Asn676=) c.1854T>C (p.Asn618=) c.1830T>C (p.Asn610=) c.963T>C (p.Asn321=) c.876T>C (p.Asn292=) c.789T>C (p.Asn263=) n.689T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996607T>G | CA399978357 | MAPT | c.678T>G (p.Asn226Lys) c.591T>G (p.Asn197Lys) c.765T>G (p.Asn255Lys) n.629T>G c.1941T>G (p.Asn647Lys) c.1743T>G (p.Asn581Lys) c.1716T>G (p.Asn572Lys) c.1770T>G (p.Asn590Lys) n.719T>G n.6050T>G c.2028T>G (p.Asn676Lys) c.1854T>G (p.Asn618Lys) c.1830T>G (p.Asn610Lys) c.963T>G (p.Asn321Lys) c.876T>G (p.Asn292Lys) c.789T>G (p.Asn263Lys) n.689T>G | |
17 | g.45996607T= | CA2262095032 | MAPT | c.678T= (p.Asn226=) c.591T= (p.Asn197=) c.765T= (p.Asn255=) n.629T= c.1941T= (p.Asn647=) c.1743T= (p.Asn581=) c.1716T= (p.Asn572=) c.1770T= (p.Asn590=) n.719T= n.6050T= c.2028T= (p.Asn676=) c.1854T= (p.Asn618=) c.1830T= (p.Asn610=) c.963T= (p.Asn321=) c.876T= (p.Asn292=) c.789T= (p.Asn263=) n.689T= | |
17 | g.45996608G>A | CA8618061 | MAPT | c.679G>A (p.Val227Ile) c.592G>A (p.Val198Ile) c.766G>A (p.Val256Ile) n.630G>A c.1942G>A (p.Val648Ile) c.1744G>A (p.Val582Ile) c.1717G>A (p.Val573Ile) c.1771G>A (p.Val591Ile) n.720G>A n.6051G>A c.2029G>A (p.Val677Ile) c.1855G>A (p.Val619Ile) c.1831G>A (p.Val611Ile) c.964G>A (p.Val322Ile) c.877G>A (p.Val293Ile) c.790G>A (p.Val264Ile) n.690G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996608G>C | CA399978358 | MAPT | c.679G>C (p.Val227Leu) c.592G>C (p.Val198Leu) c.766G>C (p.Val256Leu) n.630G>C c.1942G>C (p.Val648Leu) c.1744G>C (p.Val582Leu) c.1717G>C (p.Val573Leu) c.1771G>C (p.Val591Leu) n.720G>C n.6051G>C c.2029G>C (p.Val677Leu) c.1855G>C (p.Val619Leu) c.1831G>C (p.Val611Leu) c.964G>C (p.Val322Leu) c.877G>C (p.Val293Leu) c.790G>C (p.Val264Leu) n.690G>C | |
17 | g.45996608G= | CA2262095033 | MAPT | c.679G= (p.Val227=) c.592G= (p.Val198=) c.766G= (p.Val256=) n.630G= c.1942G= (p.Val648=) c.1744G= (p.Val582=) c.1717G= (p.Val573=) c.1771G= (p.Val591=) n.720G= n.6051G= c.2029G= (p.Val677=) c.1855G= (p.Val619=) c.1831G= (p.Val611=) c.964G= (p.Val322=) c.877G= (p.Val293=) c.790G= (p.Val264=) n.690G= | |
17 | g.45996608G>T | CA399978359 | MAPT | c.679G>T (p.Val227Phe) c.592G>T (p.Val198Phe) c.766G>T (p.Val256Phe) n.630G>T c.1942G>T (p.Val648Phe) c.1744G>T (p.Val582Phe) c.1717G>T (p.Val573Phe) c.1771G>T (p.Val591Phe) n.720G>T n.6051G>T c.2029G>T (p.Val677Phe) c.1855G>T (p.Val619Phe) c.1831G>T (p.Val611Phe) c.964G>T (p.Val322Phe) c.877G>T (p.Val293Phe) c.790G>T (p.Val264Phe) n.690G>T | |
17 | g.45996609T>A | CA399978360 | MAPT | c.680T>A (p.Val227Asp) c.593T>A (p.Val198Asp) c.767T>A (p.Val256Asp) n.631T>A c.1943T>A (p.Val648Asp) c.1745T>A (p.Val582Asp) c.1718T>A (p.Val573Asp) c.1772T>A (p.Val591Asp) n.721T>A n.6052T>A c.2030T>A (p.Val677Asp) c.1856T>A (p.Val619Asp) c.1832T>A (p.Val611Asp) c.965T>A (p.Val322Asp) c.878T>A (p.Val293Asp) c.791T>A (p.Val264Asp) n.691T>A | |
17 | g.45996609T>C | CA399978361 | MAPT | c.680T>C (p.Val227Ala) c.593T>C (p.Val198Ala) c.767T>C (p.Val256Ala) n.631T>C c.1943T>C (p.Val648Ala) c.1745T>C (p.Val582Ala) c.1718T>C (p.Val573Ala) c.1772T>C (p.Val591Ala) n.721T>C n.6052T>C c.2030T>C (p.Val677Ala) c.1856T>C (p.Val619Ala) c.1832T>C (p.Val611Ala) c.965T>C (p.Val322Ala) c.878T>C (p.Val293Ala) c.791T>C (p.Val264Ala) n.691T>C | |
17 | g.45996609T>G | CA399978362 | MAPT | c.680T>G (p.Val227Gly) c.593T>G (p.Val198Gly) c.767T>G (p.Val256Gly) n.631T>G c.1943T>G (p.Val648Gly) c.1745T>G (p.Val582Gly) c.1718T>G (p.Val573Gly) c.1772T>G (p.Val591Gly) n.721T>G n.6052T>G c.2030T>G (p.Val677Gly) c.1856T>G (p.Val619Gly) c.1832T>G (p.Val611Gly) c.965T>G (p.Val322Gly) c.878T>G (p.Val293Gly) c.791T>G (p.Val264Gly) n.691T>G | |
17 | g.45996610C>A | CA500644045 | MAPT | c.681C>A (p.Val227=) c.594C>A (p.Val198=) c.768C>A (p.Val256=) n.632C>A c.1944C>A (p.Val648=) c.1746C>A (p.Val582=) c.1719C>A (p.Val573=) c.1773C>A (p.Val591=) n.722C>A n.6053C>A c.2031C>A (p.Val677=) c.1857C>A (p.Val619=) c.1833C>A (p.Val611=) c.966C>A (p.Val322=) c.879C>A (p.Val293=) c.792C>A (p.Val264=) n.692C>A | |
17 | g.45996610C>G | CA500644046 | MAPT | c.681C>G (p.Val227=) c.594C>G (p.Val198=) c.768C>G (p.Val256=) n.632C>G c.1944C>G (p.Val648=) c.1746C>G (p.Val582=) c.1719C>G (p.Val573=) c.1773C>G (p.Val591=) n.722C>G n.6053C>G c.2031C>G (p.Val677=) c.1857C>G (p.Val619=) c.1833C>G (p.Val611=) c.966C>G (p.Val322=) c.879C>G (p.Val293=) c.792C>G (p.Val264=) n.692C>G | |
17 | g.45996610C>T | CA500644047 | MAPT | c.681C>T (p.Val227=) c.594C>T (p.Val198=) c.768C>T (p.Val256=) n.632C>T c.1944C>T (p.Val648=) c.1746C>T (p.Val582=) c.1719C>T (p.Val573=) c.1773C>T (p.Val591=) n.722C>T n.6053C>T c.2031C>T (p.Val677=) c.1857C>T (p.Val619=) c.1833C>T (p.Val611=) c.966C>T (p.Val322=) c.879C>T (p.Val293=) c.792C>T (p.Val264=) n.692C>T | |
17 | g.45996611A>C | CA399978363 | MAPT | c.682A>C (p.Lys228Gln) c.595A>C (p.Lys199Gln) c.769A>C (p.Lys257Gln) n.633A>C n.1A>C c.1945A>C (p.Lys649Gln) c.1747A>C (p.Lys583Gln) c.1720A>C (p.Lys574Gln) c.1774A>C (p.Lys592Gln) n.723A>C n.6054A>C c.2032A>C (p.Lys678Gln) c.1858A>C (p.Lys620Gln) c.1834A>C (p.Lys612Gln) c.967A>C (p.Lys323Gln) c.880A>C (p.Lys294Gln) c.793A>C (p.Lys265Gln) n.693A>C | |
17 | g.45996611A>G | CA399978364 | MAPT | c.682A>G (p.Lys228Glu) c.595A>G (p.Lys199Glu) c.769A>G (p.Lys257Glu) n.633A>G n.1A>G c.1945A>G (p.Lys649Glu) c.1747A>G (p.Lys583Glu) c.1720A>G (p.Lys574Glu) c.1774A>G (p.Lys592Glu) n.723A>G n.6054A>G c.2032A>G (p.Lys678Glu) c.1858A>G (p.Lys620Glu) c.1834A>G (p.Lys612Glu) c.967A>G (p.Lys323Glu) c.880A>G (p.Lys294Glu) c.793A>G (p.Lys265Glu) n.693A>G | |
17 | g.45996611A>T | CA399978365 | MAPT | c.682A>T (p.Lys228Ter) c.595A>T (p.Lys199Ter) c.769A>T (p.Lys257Ter) n.633A>T n.1A>T c.1945A>T (p.Lys649Ter) c.1747A>T (p.Lys583Ter) c.1720A>T (p.Lys574Ter) c.1774A>T (p.Lys592Ter) n.723A>T n.6054A>T c.2032A>T (p.Lys678Ter) c.1858A>T (p.Lys620Ter) c.1834A>T (p.Lys612Ter) c.967A>T (p.Lys323Ter) c.880A>T (p.Lys294Ter) c.793A>T (p.Lys265Ter) n.693A>T | |
17 | g.45996612A= | CA2262095034 | MAPT | c.683A= (p.Lys228=) c.596A= (p.Lys199=) c.770A= (p.Lys257=) n.634A= n.2A= c.1946A= (p.Lys649=) c.1748A= (p.Lys583=) c.1721A= (p.Lys574=) c.1775A= (p.Lys592=) n.724A= n.6055A= c.2033A= (p.Lys678=) c.1859A= (p.Lys620=) c.1835A= (p.Lys612=) c.968A= (p.Lys323=) c.881A= (p.Lys294=) c.794A= (p.Lys265=) n.694A= | |
17 | g.45996612A>C | CA225413 | MAPT | c.683A>C (p.Lys228Thr) c.596A>C (p.Lys199Thr) c.770A>C (p.Lys257Thr) n.634A>C n.2A>C c.1946A>C (p.Lys649Thr) c.1748A>C (p.Lys583Thr) c.1721A>C (p.Lys574Thr) c.1775A>C (p.Lys592Thr) n.724A>C n.6055A>C c.2033A>C (p.Lys678Thr) c.1859A>C (p.Lys620Thr) c.1835A>C (p.Lys612Thr) c.968A>C (p.Lys323Thr) c.881A>C (p.Lys294Thr) c.794A>C (p.Lys265Thr) n.694A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996612A>G | CA399978367 | MAPT | c.683A>G (p.Lys228Arg) c.596A>G (p.Lys199Arg) c.770A>G (p.Lys257Arg) n.634A>G n.2A>G c.1946A>G (p.Lys649Arg) c.1748A>G (p.Lys583Arg) c.1721A>G (p.Lys574Arg) c.1775A>G (p.Lys592Arg) n.724A>G n.6055A>G c.2033A>G (p.Lys678Arg) c.1859A>G (p.Lys620Arg) c.1835A>G (p.Lys612Arg) c.968A>G (p.Lys323Arg) c.881A>G (p.Lys294Arg) c.794A>G (p.Lys265Arg) n.694A>G | |
17 | g.45996612A>T | CA399978366 | MAPT | c.683A>T (p.Lys228Met) c.596A>T (p.Lys199Met) c.770A>T (p.Lys257Met) n.634A>T n.2A>T c.1946A>T (p.Lys649Met) c.1748A>T (p.Lys583Met) c.1721A>T (p.Lys574Met) c.1775A>T (p.Lys592Met) n.724A>T n.6055A>T c.2033A>T (p.Lys678Met) c.1859A>T (p.Lys620Met) c.1835A>T (p.Lys612Met) c.968A>T (p.Lys323Met) c.881A>T (p.Lys294Met) c.794A>T (p.Lys265Met) n.694A>T | |
17 | g.45996613G>A | CA500644048 | MAPT | c.684G>A (p.Lys228=) c.597G>A (p.Lys199=) c.771G>A (p.Lys257=) n.635G>A n.3G>A c.1947G>A (p.Lys649=) c.1749G>A (p.Lys583=) c.1722G>A (p.Lys574=) c.1776G>A (p.Lys592=) n.725G>A n.6056G>A c.2034G>A (p.Lys678=) c.1860G>A (p.Lys620=) c.1836G>A (p.Lys612=) c.969G>A (p.Lys323=) c.882G>A (p.Lys294=) c.795G>A (p.Lys265=) n.695G>A | |
17 | g.45996613G>C | CA399978369 | MAPT | c.684G>C (p.Lys228Asn) c.597G>C (p.Lys199Asn) c.771G>C (p.Lys257Asn) n.635G>C n.3G>C c.1947G>C (p.Lys649Asn) c.1749G>C (p.Lys583Asn) c.1722G>C (p.Lys574Asn) c.1776G>C (p.Lys592Asn) n.725G>C n.6056G>C c.2034G>C (p.Lys678Asn) c.1860G>C (p.Lys620Asn) c.1836G>C (p.Lys612Asn) c.969G>C (p.Lys323Asn) c.882G>C (p.Lys294Asn) c.795G>C (p.Lys265Asn) n.695G>C | |
17 | g.45996613G>T | CA399978368 | MAPT | c.684G>T (p.Lys228Asn) c.597G>T (p.Lys199Asn) c.771G>T (p.Lys257Asn) n.635G>T n.3G>T c.1947G>T (p.Lys649Asn) c.1749G>T (p.Lys583Asn) c.1722G>T (p.Lys574Asn) c.1776G>T (p.Lys592Asn) n.725G>T n.6056G>T c.2034G>T (p.Lys678Asn) c.1860G>T (p.Lys620Asn) c.1836G>T (p.Lys612Asn) c.969G>T (p.Lys323Asn) c.882G>T (p.Lys294Asn) c.795G>T (p.Lys265Asn) n.695G>T |