| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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= |