| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.45996512A>C | CA399978154 | MAPT | c.583A>C (p.Lys195Gln) c.496A>C (p.Lys166Gln) c.670A>C (p.Lys224Gln) n.534A>C c.1846A>C (p.Lys616Gln) c.1648A>C (p.Lys550Gln) c.1621A>C (p.Lys541Gln) c.1675A>C (p.Lys559Gln) n.624A>C n.5955A>C c.1933A>C (p.Lys645Gln) c.1759A>C (p.Lys587Gln) c.1735A>C (p.Lys579Gln) c.868A>C (p.Lys290Gln) c.781A>C (p.Lys261Gln) c.694A>C (p.Lys232Gln) n.594A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.45996512A>G | CA399978155 | MAPT | c.583A>G (p.Lys195Glu) c.496A>G (p.Lys166Glu) c.670A>G (p.Lys224Glu) n.534A>G c.1846A>G (p.Lys616Glu) c.1648A>G (p.Lys550Glu) c.1621A>G (p.Lys541Glu) c.1675A>G (p.Lys559Glu) n.624A>G n.5955A>G c.1933A>G (p.Lys645Glu) c.1759A>G (p.Lys587Glu) c.1735A>G (p.Lys579Glu) c.868A>G (p.Lys290Glu) c.781A>G (p.Lys261Glu) c.694A>G (p.Lys232Glu) n.594A>G | |
| 17 | g.45996512A>T | CA399978156 | MAPT | c.583A>T (p.Lys195Ter) c.496A>T (p.Lys166Ter) c.670A>T (p.Lys224Ter) n.534A>T c.1846A>T (p.Lys616Ter) c.1648A>T (p.Lys550Ter) c.1621A>T (p.Lys541Ter) c.1675A>T (p.Lys559Ter) n.624A>T n.5955A>T c.1933A>T (p.Lys645Ter) c.1759A>T (p.Lys587Ter) c.1735A>T (p.Lys579Ter) c.868A>T (p.Lys290Ter) c.781A>T (p.Lys261Ter) c.694A>T (p.Lys232Ter) n.594A>T | gnomAD v4 |
| 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 |