Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
17 | g.45996614T>A | CA399978370 | MAPT | c.685T>A (p.Ser229Thr) c.598T>A (p.Ser200Thr) c.772T>A (p.Ser258Thr) n.636T>A n.4T>A c.1948T>A (p.Ser650Thr) c.1750T>A (p.Ser584Thr) c.1723T>A (p.Ser575Thr) c.1777T>A (p.Ser593Thr) n.726T>A n.6057T>A c.2035T>A (p.Ser679Thr) c.1861T>A (p.Ser621Thr) c.1837T>A (p.Ser613Thr) c.970T>A (p.Ser324Thr) c.883T>A (p.Ser295Thr) c.796T>A (p.Ser266Thr) n.696T>A | |
17 | g.45996614T>C | CA399978371 | MAPT | c.685T>C (p.Ser229Pro) c.598T>C (p.Ser200Pro) c.772T>C (p.Ser258Pro) n.636T>C n.4T>C c.1948T>C (p.Ser650Pro) c.1750T>C (p.Ser584Pro) c.1723T>C (p.Ser575Pro) c.1777T>C (p.Ser593Pro) n.726T>C n.6057T>C c.2035T>C (p.Ser679Pro) c.1861T>C (p.Ser621Pro) c.1837T>C (p.Ser613Pro) c.970T>C (p.Ser324Pro) c.883T>C (p.Ser295Pro) c.796T>C (p.Ser266Pro) n.696T>C | |
17 | g.45996614T>G | CA399978372 | MAPT | c.685T>G (p.Ser229Ala) c.598T>G (p.Ser200Ala) c.772T>G (p.Ser258Ala) n.636T>G n.4T>G c.1948T>G (p.Ser650Ala) c.1750T>G (p.Ser584Ala) c.1723T>G (p.Ser575Ala) c.1777T>G (p.Ser593Ala) n.726T>G n.6057T>G c.2035T>G (p.Ser679Ala) c.1861T>G (p.Ser621Ala) c.1837T>G (p.Ser613Ala) c.970T>G (p.Ser324Ala) c.883T>G (p.Ser295Ala) c.796T>G (p.Ser266Ala) n.696T>G | |
17 | g.45996615C>A | CA399978373 | MAPT | c.686C>A (p.Ser229Tyr) c.599C>A (p.Ser200Tyr) c.773C>A (p.Ser258Tyr) n.637C>A n.5C>A c.1949C>A (p.Ser650Tyr) c.1751C>A (p.Ser584Tyr) c.1724C>A (p.Ser575Tyr) c.1778C>A (p.Ser593Tyr) n.727C>A n.6058C>A c.2036C>A (p.Ser679Tyr) c.1862C>A (p.Ser621Tyr) c.1838C>A (p.Ser613Tyr) c.971C>A (p.Ser324Tyr) c.884C>A (p.Ser295Tyr) c.797C>A (p.Ser266Tyr) n.697C>A | |
17 | g.45996615C>G | CA399978374 | MAPT | c.686C>G (p.Ser229Cys) c.599C>G (p.Ser200Cys) c.773C>G (p.Ser258Cys) n.637C>G n.5C>G c.1949C>G (p.Ser650Cys) c.1751C>G (p.Ser584Cys) c.1724C>G (p.Ser575Cys) c.1778C>G (p.Ser593Cys) n.727C>G n.6058C>G c.2036C>G (p.Ser679Cys) c.1862C>G (p.Ser621Cys) c.1838C>G (p.Ser613Cys) c.971C>G (p.Ser324Cys) c.884C>G (p.Ser295Cys) c.797C>G (p.Ser266Cys) n.697C>G | |
17 | g.45996615C>T | CA399978375 | MAPT | c.686C>T (p.Ser229Phe) c.599C>T (p.Ser200Phe) c.773C>T (p.Ser258Phe) n.637C>T n.5C>T c.1949C>T (p.Ser650Phe) c.1751C>T (p.Ser584Phe) c.1724C>T (p.Ser575Phe) c.1778C>T (p.Ser593Phe) n.727C>T n.6058C>T c.2036C>T (p.Ser679Phe) c.1862C>T (p.Ser621Phe) c.1838C>T (p.Ser613Phe) c.971C>T (p.Ser324Phe) c.884C>T (p.Ser295Phe) c.797C>T (p.Ser266Phe) n.697C>T | |
17 | g.45996616C>A | CA500644049 | MAPT | c.687C>A (p.Ser229=) c.600C>A (p.Ser200=) c.774C>A (p.Ser258=) n.638C>A n.6C>A c.1950C>A (p.Ser650=) c.1752C>A (p.Ser584=) c.1725C>A (p.Ser575=) c.1779C>A (p.Ser593=) n.728C>A n.6059C>A c.2037C>A (p.Ser679=) c.1863C>A (p.Ser621=) c.1839C>A (p.Ser613=) c.972C>A (p.Ser324=) c.885C>A (p.Ser295=) c.798C>A (p.Ser266=) n.698C>A | gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.45996616C>G | CA500644051 | MAPT | c.687C>G (p.Ser229=) c.600C>G (p.Ser200=) c.774C>G (p.Ser258=) n.638C>G n.6C>G c.1950C>G (p.Ser650=) c.1752C>G (p.Ser584=) c.1725C>G (p.Ser575=) c.1779C>G (p.Ser593=) n.728C>G n.6059C>G c.2037C>G (p.Ser679=) c.1863C>G (p.Ser621=) c.1839C>G (p.Ser613=) c.972C>G (p.Ser324=) c.885C>G (p.Ser295=) c.798C>G (p.Ser266=) n.698C>G | |
17 | g.45996616C>T | CA500644050 | MAPT | c.687C>T (p.Ser229=) c.600C>T (p.Ser200=) c.774C>T (p.Ser258=) n.638C>T n.6C>T c.1950C>T (p.Ser650=) c.1752C>T (p.Ser584=) c.1725C>T (p.Ser575=) c.1779C>T (p.Ser593=) n.728C>T n.6059C>T c.2037C>T (p.Ser679=) c.1863C>T (p.Ser621=) c.1839C>T (p.Ser613=) c.972C>T (p.Ser324=) c.885C>T (p.Ser295=) c.798C>T (p.Ser266=) n.698C>T | |
17 | g.45996617A>C | CA399978378 | MAPT | c.688A>C (p.Lys230Gln) c.601A>C (p.Lys201Gln) c.775A>C (p.Lys259Gln) n.639A>C n.7A>C c.1951A>C (p.Lys651Gln) c.1753A>C (p.Lys585Gln) c.1726A>C (p.Lys576Gln) c.1780A>C (p.Lys594Gln) n.729A>C n.6060A>C c.2038A>C (p.Lys680Gln) c.1864A>C (p.Lys622Gln) c.1840A>C (p.Lys614Gln) c.973A>C (p.Lys325Gln) c.886A>C (p.Lys296Gln) c.799A>C (p.Lys267Gln) n.699A>C | |
17 | g.45996617A>G | CA399978376 | MAPT | c.688A>G (p.Lys230Glu) c.601A>G (p.Lys201Glu) c.775A>G (p.Lys259Glu) n.639A>G n.7A>G c.1951A>G (p.Lys651Glu) c.1753A>G (p.Lys585Glu) c.1726A>G (p.Lys576Glu) c.1780A>G (p.Lys594Glu) n.729A>G n.6060A>G c.2038A>G (p.Lys680Glu) c.1864A>G (p.Lys622Glu) c.1840A>G (p.Lys614Glu) c.973A>G (p.Lys325Glu) c.886A>G (p.Lys296Glu) c.799A>G (p.Lys267Glu) n.699A>G | |
17 | g.45996617A>T | CA399978377 | MAPT | c.688A>T (p.Lys230Ter) c.601A>T (p.Lys201Ter) c.775A>T (p.Lys259Ter) n.639A>T n.7A>T c.1951A>T (p.Lys651Ter) c.1753A>T (p.Lys585Ter) c.1726A>T (p.Lys576Ter) c.1780A>T (p.Lys594Ter) n.729A>T n.6060A>T c.2038A>T (p.Lys680Ter) c.1864A>T (p.Lys622Ter) c.1840A>T (p.Lys614Ter) c.973A>T (p.Lys325Ter) c.886A>T (p.Lys296Ter) c.799A>T (p.Lys267Ter) n.699A>T | |
17 | g.45996618A= | CA2262095035 | MAPT | c.689A= (p.Lys230=) c.602A= (p.Lys201=) c.776A= (p.Lys259=) n.640A= n.8A= c.1952A= (p.Lys651=) c.1754A= (p.Lys585=) c.1727A= (p.Lys576=) c.1781A= (p.Lys594=) n.730A= n.6061A= c.2039A= (p.Lys680=) c.1865A= (p.Lys622=) c.1841A= (p.Lys614=) c.974A= (p.Lys325=) c.887A= (p.Lys296=) c.800A= (p.Lys267=) n.700A= | |
17 | g.45996618A>C | CA399978379 | MAPT | c.689A>C (p.Lys230Thr) c.602A>C (p.Lys201Thr) c.776A>C (p.Lys259Thr) n.640A>C n.8A>C c.1952A>C (p.Lys651Thr) c.1754A>C (p.Lys585Thr) c.1727A>C (p.Lys576Thr) c.1781A>C (p.Lys594Thr) n.730A>C n.6061A>C c.2039A>C (p.Lys680Thr) c.1865A>C (p.Lys622Thr) c.1841A>C (p.Lys614Thr) c.974A>C (p.Lys325Thr) c.887A>C (p.Lys296Thr) c.800A>C (p.Lys267Thr) n.700A>C | |
17 | g.45996618A>G | CA399978380 | MAPT | c.689A>G (p.Lys230Arg) c.602A>G (p.Lys201Arg) c.776A>G (p.Lys259Arg) n.640A>G n.8A>G c.1952A>G (p.Lys651Arg) c.1754A>G (p.Lys585Arg) c.1727A>G (p.Lys576Arg) c.1781A>G (p.Lys594Arg) n.730A>G n.6061A>G c.2039A>G (p.Lys680Arg) c.1865A>G (p.Lys622Arg) c.1841A>G (p.Lys614Arg) c.974A>G (p.Lys325Arg) c.887A>G (p.Lys296Arg) c.800A>G (p.Lys267Arg) n.700A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996618A>T | CA399978381 | MAPT | c.689A>T (p.Lys230Met) c.602A>T (p.Lys201Met) c.776A>T (p.Lys259Met) n.640A>T n.8A>T c.1952A>T (p.Lys651Met) c.1754A>T (p.Lys585Met) c.1727A>T (p.Lys576Met) c.1781A>T (p.Lys594Met) n.730A>T n.6061A>T c.2039A>T (p.Lys680Met) c.1865A>T (p.Lys622Met) c.1841A>T (p.Lys614Met) c.974A>T (p.Lys325Met) c.887A>T (p.Lys296Met) c.800A>T (p.Lys267Met) n.700A>T | |
17 | g.45996619G>A | CA500644052 | MAPT | c.690G>A (p.Lys230=) c.603G>A (p.Lys201=) c.777G>A (p.Lys259=) n.641G>A n.9G>A c.1953G>A (p.Lys651=) c.1755G>A (p.Lys585=) c.1728G>A (p.Lys576=) c.1782G>A (p.Lys594=) n.731G>A n.6062G>A c.2040G>A (p.Lys680=) c.1866G>A (p.Lys622=) c.1842G>A (p.Lys614=) c.975G>A (p.Lys325=) c.888G>A (p.Lys296=) c.801G>A (p.Lys267=) n.701G>A | |
17 | g.45996619G>C | CA399978382 | MAPT | c.690G>C (p.Lys230Asn) c.603G>C (p.Lys201Asn) c.777G>C (p.Lys259Asn) n.641G>C n.9G>C c.1953G>C (p.Lys651Asn) c.1755G>C (p.Lys585Asn) c.1728G>C (p.Lys576Asn) c.1782G>C (p.Lys594Asn) n.731G>C n.6062G>C c.2040G>C (p.Lys680Asn) c.1866G>C (p.Lys622Asn) c.1842G>C (p.Lys614Asn) c.975G>C (p.Lys325Asn) c.888G>C (p.Lys296Asn) c.801G>C (p.Lys267Asn) n.701G>C | |
17 | g.45996619G>T | CA399978383 | MAPT | c.690G>T (p.Lys230Asn) c.603G>T (p.Lys201Asn) c.777G>T (p.Lys259Asn) n.641G>T n.9G>T c.1953G>T (p.Lys651Asn) c.1755G>T (p.Lys585Asn) c.1728G>T (p.Lys576Asn) c.1782G>T (p.Lys594Asn) n.731G>T n.6062G>T c.2040G>T (p.Lys680Asn) c.1866G>T (p.Lys622Asn) c.1842G>T (p.Lys614Asn) c.975G>T (p.Lys325Asn) c.888G>T (p.Lys296Asn) c.801G>T (p.Lys267Asn) n.701G>T | |
17 | g.45996620A= | CA2262095036 | MAPT | c.691A= (p.Ile231=) c.604A= (p.Ile202=) c.778A= (p.Ile260=) n.642A= n.10A= c.1954A= (p.Ile652=) c.1756A= (p.Ile586=) c.1729A= (p.Ile577=) c.1783A= (p.Ile595=) n.732A= n.6063A= c.2041A= (p.Ile681=) c.1867A= (p.Ile623=) c.1843A= (p.Ile615=) c.976A= (p.Ile326=) c.889A= (p.Ile297=) c.802A= (p.Ile268=) n.702A= | |
17 | g.45996620A>C | CA399978384 | MAPT | c.691A>C (p.Ile231Leu) c.604A>C (p.Ile202Leu) c.778A>C (p.Ile260Leu) n.642A>C n.10A>C c.1954A>C (p.Ile652Leu) c.1756A>C (p.Ile586Leu) c.1729A>C (p.Ile577Leu) c.1783A>C (p.Ile595Leu) n.732A>C n.6063A>C c.2041A>C (p.Ile681Leu) c.1867A>C (p.Ile623Leu) c.1843A>C (p.Ile615Leu) c.976A>C (p.Ile326Leu) c.889A>C (p.Ile297Leu) c.802A>C (p.Ile268Leu) n.702A>C | |
17 | g.45996620A>G | CA225415 | MAPT | c.691A>G (p.Ile231Val) c.604A>G (p.Ile202Val) c.778A>G (p.Ile260Val) n.642A>G n.10A>G c.1954A>G (p.Ile652Val) c.1756A>G (p.Ile586Val) c.1729A>G (p.Ile577Val) c.1783A>G (p.Ile595Val) n.732A>G n.6063A>G c.2041A>G (p.Ile681Val) c.1867A>G (p.Ile623Val) c.1843A>G (p.Ile615Val) c.976A>G (p.Ile326Val) c.889A>G (p.Ile297Val) c.802A>G (p.Ile268Val) n.702A>G | ClinVar dbSNP |
17 | g.45996620A>T | CA399978385 | MAPT | c.691A>T (p.Ile231Phe) c.604A>T (p.Ile202Phe) c.778A>T (p.Ile260Phe) n.642A>T n.10A>T c.1954A>T (p.Ile652Phe) c.1756A>T (p.Ile586Phe) c.1729A>T (p.Ile577Phe) c.1783A>T (p.Ile595Phe) n.732A>T n.6063A>T c.2041A>T (p.Ile681Phe) c.1867A>T (p.Ile623Phe) c.1843A>T (p.Ile615Phe) c.976A>T (p.Ile326Phe) c.889A>T (p.Ile297Phe) c.802A>T (p.Ile268Phe) n.702A>T | gnomAD v4 |
17 | g.45996621T>A | CA399978386 | MAPT | c.692T>A (p.Ile231Asn) c.605T>A (p.Ile202Asn) c.779T>A (p.Ile260Asn) n.643T>A n.11T>A c.1955T>A (p.Ile652Asn) c.1757T>A (p.Ile586Asn) c.1730T>A (p.Ile577Asn) c.1784T>A (p.Ile595Asn) n.733T>A n.6064T>A c.2042T>A (p.Ile681Asn) c.1868T>A (p.Ile623Asn) c.1844T>A (p.Ile615Asn) c.977T>A (p.Ile326Asn) c.890T>A (p.Ile297Asn) c.803T>A (p.Ile268Asn) n.703T>A | |
17 | g.45996621T>C | CA399978387 | MAPT | c.692T>C (p.Ile231Thr) c.605T>C (p.Ile202Thr) c.779T>C (p.Ile260Thr) n.643T>C n.11T>C c.1955T>C (p.Ile652Thr) c.1757T>C (p.Ile586Thr) c.1730T>C (p.Ile577Thr) c.1784T>C (p.Ile595Thr) n.733T>C n.6064T>C c.2042T>C (p.Ile681Thr) c.1868T>C (p.Ile623Thr) c.1844T>C (p.Ile615Thr) c.977T>C (p.Ile326Thr) c.890T>C (p.Ile297Thr) c.803T>C (p.Ile268Thr) n.703T>C | |
17 | g.45996621T>G | CA399978388 | MAPT | c.692T>G (p.Ile231Ser) c.605T>G (p.Ile202Ser) c.779T>G (p.Ile260Ser) n.643T>G n.11T>G c.1955T>G (p.Ile652Ser) c.1757T>G (p.Ile586Ser) c.1730T>G (p.Ile577Ser) c.1784T>G (p.Ile595Ser) n.733T>G n.6064T>G c.2042T>G (p.Ile681Ser) c.1868T>G (p.Ile623Ser) c.1844T>G (p.Ile615Ser) c.977T>G (p.Ile326Ser) c.890T>G (p.Ile297Ser) c.803T>G (p.Ile268Ser) n.703T>G | |
17 | g.45996622C>A | CA500644053 | MAPT | c.693C>A (p.Ile231=) c.606C>A (p.Ile202=) c.780C>A (p.Ile260=) n.644C>A n.12C>A c.1956C>A (p.Ile652=) c.1758C>A (p.Ile586=) c.1731C>A (p.Ile577=) c.1785C>A (p.Ile595=) n.734C>A n.6065C>A c.2043C>A (p.Ile681=) c.1869C>A (p.Ile623=) c.1845C>A (p.Ile615=) c.978C>A (p.Ile326=) c.891C>A (p.Ile297=) c.804C>A (p.Ile268=) n.704C>A | dbSNP gnomAD v4 |
17 | g.45996622C= | CA2262095037 | MAPT | c.693C= (p.Ile231=) c.606C= (p.Ile202=) c.780C= (p.Ile260=) n.644C= n.12C= c.1956C= (p.Ile652=) c.1758C= (p.Ile586=) c.1731C= (p.Ile577=) c.1785C= (p.Ile595=) n.734C= n.6065C= c.2043C= (p.Ile681=) c.1869C= (p.Ile623=) c.1845C= (p.Ile615=) c.978C= (p.Ile326=) c.891C= (p.Ile297=) c.804C= (p.Ile268=) n.704C= | |
17 | g.45996622C>G | CA399978389 | MAPT | c.693C>G (p.Ile231Met) c.606C>G (p.Ile202Met) c.780C>G (p.Ile260Met) n.644C>G n.12C>G c.1956C>G (p.Ile652Met) c.1758C>G (p.Ile586Met) c.1731C>G (p.Ile577Met) c.1785C>G (p.Ile595Met) n.734C>G n.6065C>G c.2043C>G (p.Ile681Met) c.1869C>G (p.Ile623Met) c.1845C>G (p.Ile615Met) c.978C>G (p.Ile326Met) c.891C>G (p.Ile297Met) c.804C>G (p.Ile268Met) n.704C>G | dbSNP gnomAD v4 |
17 | g.45996622C>T | CA8618062 | MAPT | c.693C>T (p.Ile231=) c.606C>T (p.Ile202=) c.780C>T (p.Ile260=) n.644C>T n.12C>T c.1956C>T (p.Ile652=) c.1758C>T (p.Ile586=) c.1731C>T (p.Ile577=) c.1785C>T (p.Ile595=) n.734C>T n.6065C>T c.2043C>T (p.Ile681=) c.1869C>T (p.Ile623=) c.1845C>T (p.Ile615=) c.978C>T (p.Ile326=) c.891C>T (p.Ile297=) c.804C>T (p.Ile268=) n.704C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996623G>A | CA399978390 | MAPT | c.694G>A (p.Gly232Ser) c.607G>A (p.Gly203Ser) c.781G>A (p.Gly261Ser) n.645G>A n.13G>A c.1957G>A (p.Gly653Ser) c.1759G>A (p.Gly587Ser) c.1732G>A (p.Gly578Ser) c.1786G>A (p.Gly596Ser) n.735G>A n.6066G>A c.2044G>A (p.Gly682Ser) c.1870G>A (p.Gly624Ser) c.1846G>A (p.Gly616Ser) c.979G>A (p.Gly327Ser) c.892G>A (p.Gly298Ser) c.805G>A (p.Gly269Ser) n.705G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996623G>C | CA399978391 | MAPT | c.694G>C (p.Gly232Arg) c.607G>C (p.Gly203Arg) c.781G>C (p.Gly261Arg) n.645G>C n.13G>C c.1957G>C (p.Gly653Arg) c.1759G>C (p.Gly587Arg) c.1732G>C (p.Gly578Arg) c.1786G>C (p.Gly596Arg) n.735G>C n.6066G>C c.2044G>C (p.Gly682Arg) c.1870G>C (p.Gly624Arg) c.1846G>C (p.Gly616Arg) c.979G>C (p.Gly327Arg) c.892G>C (p.Gly298Arg) c.805G>C (p.Gly269Arg) n.705G>C | |
17 | g.45996623G= | CA2262095038 | MAPT | c.694G= (p.Gly232=) c.607G= (p.Gly203=) c.781G= (p.Gly261=) n.645G= n.13G= c.1957G= (p.Gly653=) c.1759G= (p.Gly587=) c.1732G= (p.Gly578=) c.1786G= (p.Gly596=) n.735G= n.6066G= c.2044G= (p.Gly682=) c.1870G= (p.Gly624=) c.1846G= (p.Gly616=) c.979G= (p.Gly327=) c.892G= (p.Gly298=) c.805G= (p.Gly269=) n.705G= | |
17 | g.45996623G>T | CA399978392 | MAPT | c.694G>T (p.Gly232Cys) c.607G>T (p.Gly203Cys) c.781G>T (p.Gly261Cys) n.645G>T n.13G>T c.1957G>T (p.Gly653Cys) c.1759G>T (p.Gly587Cys) c.1732G>T (p.Gly578Cys) c.1786G>T (p.Gly596Cys) n.735G>T n.6066G>T c.2044G>T (p.Gly682Cys) c.1870G>T (p.Gly624Cys) c.1846G>T (p.Gly616Cys) c.979G>T (p.Gly327Cys) c.892G>T (p.Gly298Cys) c.805G>T (p.Gly269Cys) n.705G>T | gnomAD v4 |
17 | g.45996624dup | CA291107189 | MAPT | c.695dup (p.Ser233LeufsTer3) c.608dup (p.Ser204LeufsTer3) c.782dup (p.Ser262LeufsTer3) n.646dup n.14dup c.1958dup (p.Ser654LeufsTer3) c.1760dup (p.Ser588LeufsTer3) c.1733dup (p.Ser579LeufsTer3) c.1787dup (p.Ser597LeufsTer3) n.736dup n.6067dup c.2045dup (p.Ser683LeufsTer3) c.1871dup (p.Ser625LeufsTer3) c.1847dup (p.Ser617LeufsTer3) c.980dup (p.Ser328LeufsTer3) c.893dup (p.Ser299LeufsTer3) c.806dup (p.Ser270LeufsTer3) n.706dup | dbSNP |
17 | g.45996624G>A | CA399978393 | MAPT | c.695G>A (p.Gly232Asp) c.608G>A (p.Gly203Asp) c.782G>A (p.Gly261Asp) n.646G>A n.14G>A c.1958G>A (p.Gly653Asp) c.1760G>A (p.Gly587Asp) c.1733G>A (p.Gly578Asp) c.1787G>A (p.Gly596Asp) n.736G>A n.6067G>A c.2045G>A (p.Gly682Asp) c.1871G>A (p.Gly624Asp) c.1847G>A (p.Gly616Asp) c.980G>A (p.Gly327Asp) c.893G>A (p.Gly298Asp) c.806G>A (p.Gly269Asp) n.706G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996624G>C | CA399978394 | MAPT | c.695G>C (p.Gly232Ala) c.608G>C (p.Gly203Ala) c.782G>C (p.Gly261Ala) n.646G>C n.14G>C c.1958G>C (p.Gly653Ala) c.1760G>C (p.Gly587Ala) c.1733G>C (p.Gly578Ala) c.1787G>C (p.Gly596Ala) n.736G>C n.6067G>C c.2045G>C (p.Gly682Ala) c.1871G>C (p.Gly624Ala) c.1847G>C (p.Gly616Ala) c.980G>C (p.Gly327Ala) c.893G>C (p.Gly298Ala) c.806G>C (p.Gly269Ala) n.706G>C | |
17 | g.45996624G= | CA2262095039 | MAPT | c.695G= (p.Gly232=) c.608G= (p.Gly203=) c.782G= (p.Gly261=) n.646G= n.14G= c.1958G= (p.Gly653=) c.1760G= (p.Gly587=) c.1733G= (p.Gly578=) c.1787G= (p.Gly596=) n.736G= n.6067G= c.2045G= (p.Gly682=) c.1871G= (p.Gly624=) c.1847G= (p.Gly616=) c.980G= (p.Gly327=) c.893G= (p.Gly298=) c.806G= (p.Gly269=) n.706G= | |
17 | g.45996624G>T | CA399978395 | MAPT | c.695G>T (p.Gly232Val) c.608G>T (p.Gly203Val) c.782G>T (p.Gly261Val) n.646G>T n.14G>T c.1958G>T (p.Gly653Val) c.1760G>T (p.Gly587Val) c.1733G>T (p.Gly578Val) c.1787G>T (p.Gly596Val) n.736G>T n.6067G>T c.2045G>T (p.Gly682Val) c.1871G>T (p.Gly624Val) c.1847G>T (p.Gly616Val) c.980G>T (p.Gly327Val) c.893G>T (p.Gly298Val) c.806G>T (p.Gly269Val) n.706G>T | |
17 | g.45996625C>A | CA500644055 | MAPT | c.696C>A (p.Gly232=) c.609C>A (p.Gly203=) c.783C>A (p.Gly261=) n.647C>A n.15C>A c.1959C>A (p.Gly653=) c.1761C>A (p.Gly587=) c.1734C>A (p.Gly578=) c.1788C>A (p.Gly596=) n.737C>A n.6068C>A c.2046C>A (p.Gly682=) c.1872C>A (p.Gly624=) c.1848C>A (p.Gly616=) c.981C>A (p.Gly327=) c.894C>A (p.Gly298=) c.807C>A (p.Gly269=) n.707C>A | |
17 | g.45996625C>G | CA500644056 | MAPT | c.696C>G (p.Gly232=) c.609C>G (p.Gly203=) c.783C>G (p.Gly261=) n.647C>G n.15C>G c.1959C>G (p.Gly653=) c.1761C>G (p.Gly587=) c.1734C>G (p.Gly578=) c.1788C>G (p.Gly596=) n.737C>G n.6068C>G c.2046C>G (p.Gly682=) c.1872C>G (p.Gly624=) c.1848C>G (p.Gly616=) c.981C>G (p.Gly327=) c.894C>G (p.Gly298=) c.807C>G (p.Gly269=) n.707C>G | |
17 | g.45996625C>T | CA500644054 | MAPT | c.696C>T (p.Gly232=) c.609C>T (p.Gly203=) c.783C>T (p.Gly261=) n.647C>T n.15C>T c.1959C>T (p.Gly653=) c.1761C>T (p.Gly587=) c.1734C>T (p.Gly578=) c.1788C>T (p.Gly596=) n.737C>T n.6068C>T c.2046C>T (p.Gly682=) c.1872C>T (p.Gly624=) c.1848C>T (p.Gly616=) c.981C>T (p.Gly327=) c.894C>T (p.Gly298=) c.807C>T (p.Gly269=) n.707C>T | |
17 | g.45996626T>A | CA399978396 | MAPT | c.697T>A (p.Ser233Thr) c.610T>A (p.Ser204Thr) c.784T>A (p.Ser262Thr) n.648T>A n.16T>A c.1960T>A (p.Ser654Thr) c.1762T>A (p.Ser588Thr) c.1735T>A (p.Ser579Thr) c.1789T>A (p.Ser597Thr) n.738T>A n.6069T>A c.2047T>A (p.Ser683Thr) c.1873T>A (p.Ser625Thr) c.1849T>A (p.Ser617Thr) c.982T>A (p.Ser328Thr) c.895T>A (p.Ser299Thr) c.808T>A (p.Ser270Thr) n.708T>A | |
17 | g.45996626T>C | CA399978398 | MAPT | c.697T>C (p.Ser233Pro) c.610T>C (p.Ser204Pro) c.784T>C (p.Ser262Pro) n.648T>C n.16T>C c.1960T>C (p.Ser654Pro) c.1762T>C (p.Ser588Pro) c.1735T>C (p.Ser579Pro) c.1789T>C (p.Ser597Pro) n.738T>C n.6069T>C c.2047T>C (p.Ser683Pro) c.1873T>C (p.Ser625Pro) c.1849T>C (p.Ser617Pro) c.982T>C (p.Ser328Pro) c.895T>C (p.Ser299Pro) c.808T>C (p.Ser270Pro) n.708T>C | gnomAD v4 |
17 | g.45996626T>G | CA399978397 | MAPT | c.697T>G (p.Ser233Ala) c.610T>G (p.Ser204Ala) c.784T>G (p.Ser262Ala) n.648T>G n.16T>G c.1960T>G (p.Ser654Ala) c.1762T>G (p.Ser588Ala) c.1735T>G (p.Ser579Ala) c.1789T>G (p.Ser597Ala) n.738T>G n.6069T>G c.2047T>G (p.Ser683Ala) c.1873T>G (p.Ser625Ala) c.1849T>G (p.Ser617Ala) c.982T>G (p.Ser328Ala) c.895T>G (p.Ser299Ala) c.808T>G (p.Ser270Ala) n.708T>G | |
17 | g.45996627C>A | CA399978399 | MAPT | c.698C>A (p.Ser233Tyr) c.611C>A (p.Ser204Tyr) c.785C>A (p.Ser262Tyr) n.649C>A n.17C>A c.1961C>A (p.Ser654Tyr) c.1763C>A (p.Ser588Tyr) c.1736C>A (p.Ser579Tyr) c.1790C>A (p.Ser597Tyr) n.739C>A n.6070C>A c.2048C>A (p.Ser683Tyr) c.1874C>A (p.Ser625Tyr) c.1850C>A (p.Ser617Tyr) c.983C>A (p.Ser328Tyr) c.896C>A (p.Ser299Tyr) c.809C>A (p.Ser270Tyr) n.709C>A | |
17 | g.45996627C>G | CA399978400 | MAPT | c.698C>G (p.Ser233Cys) c.611C>G (p.Ser204Cys) c.785C>G (p.Ser262Cys) n.649C>G n.17C>G c.1961C>G (p.Ser654Cys) c.1763C>G (p.Ser588Cys) c.1736C>G (p.Ser579Cys) c.1790C>G (p.Ser597Cys) n.739C>G n.6070C>G c.2048C>G (p.Ser683Cys) c.1874C>G (p.Ser625Cys) c.1850C>G (p.Ser617Cys) c.983C>G (p.Ser328Cys) c.896C>G (p.Ser299Cys) c.809C>G (p.Ser270Cys) n.709C>G | |
17 | g.45996627C>T | CA399978401 | MAPT | c.698C>T (p.Ser233Phe) c.611C>T (p.Ser204Phe) c.785C>T (p.Ser262Phe) n.649C>T n.17C>T c.1961C>T (p.Ser654Phe) c.1763C>T (p.Ser588Phe) c.1736C>T (p.Ser579Phe) c.1790C>T (p.Ser597Phe) n.739C>T n.6070C>T c.2048C>T (p.Ser683Phe) c.1874C>T (p.Ser625Phe) c.1850C>T (p.Ser617Phe) c.983C>T (p.Ser328Phe) c.896C>T (p.Ser299Phe) c.809C>T (p.Ser270Phe) n.709C>T | |
17 | g.45996628C>A | CA500644059 | MAPT | c.699C>A (p.Ser233=) c.612C>A (p.Ser204=) c.786C>A (p.Ser262=) n.650C>A n.18C>A c.1962C>A (p.Ser654=) c.1764C>A (p.Ser588=) c.1737C>A (p.Ser579=) c.1791C>A (p.Ser597=) n.740C>A n.6071C>A c.2049C>A (p.Ser683=) c.1875C>A (p.Ser625=) c.1851C>A (p.Ser617=) c.984C>A (p.Ser328=) c.897C>A (p.Ser299=) c.810C>A (p.Ser270=) n.710C>A | |
17 | g.45996628C>G | CA500644057 | MAPT | c.699C>G (p.Ser233=) c.612C>G (p.Ser204=) c.786C>G (p.Ser262=) n.650C>G n.18C>G c.1962C>G (p.Ser654=) c.1764C>G (p.Ser588=) c.1737C>G (p.Ser579=) c.1791C>G (p.Ser597=) n.740C>G n.6071C>G c.2049C>G (p.Ser683=) c.1875C>G (p.Ser625=) c.1851C>G (p.Ser617=) c.984C>G (p.Ser328=) c.897C>G (p.Ser299=) c.810C>G (p.Ser270=) n.710C>G | |
17 | g.45996628C>T | CA500644058 | MAPT | c.699C>T (p.Ser233=) c.612C>T (p.Ser204=) c.786C>T (p.Ser262=) n.650C>T n.18C>T c.1962C>T (p.Ser654=) c.1764C>T (p.Ser588=) c.1737C>T (p.Ser579=) c.1791C>T (p.Ser597=) n.740C>T n.6071C>T c.2049C>T (p.Ser683=) c.1875C>T (p.Ser625=) c.1851C>T (p.Ser617=) c.984C>T (p.Ser328=) c.897C>T (p.Ser299=) c.810C>T (p.Ser270=) n.710C>T | |
17 | g.45996629A>C | CA399978402 | MAPT | c.700A>C (p.Thr234Pro) c.613A>C (p.Thr205Pro) c.787A>C (p.Thr263Pro) n.651A>C n.19A>C c.1963A>C (p.Thr655Pro) c.1765A>C (p.Thr589Pro) c.1738A>C (p.Thr580Pro) c.1792A>C (p.Thr598Pro) n.741A>C n.6072A>C c.2050A>C (p.Thr684Pro) c.1876A>C (p.Thr626Pro) c.1852A>C (p.Thr618Pro) c.985A>C (p.Thr329Pro) c.898A>C (p.Thr300Pro) c.811A>C (p.Thr271Pro) n.711A>C | |
17 | g.45996629A>G | CA399978403 | MAPT | c.700A>G (p.Thr234Ala) c.613A>G (p.Thr205Ala) c.787A>G (p.Thr263Ala) n.651A>G n.19A>G c.1963A>G (p.Thr655Ala) c.1765A>G (p.Thr589Ala) c.1738A>G (p.Thr580Ala) c.1792A>G (p.Thr598Ala) n.741A>G n.6072A>G c.2050A>G (p.Thr684Ala) c.1876A>G (p.Thr626Ala) c.1852A>G (p.Thr618Ala) c.985A>G (p.Thr329Ala) c.898A>G (p.Thr300Ala) c.811A>G (p.Thr271Ala) n.711A>G | gnomAD v4 |
17 | g.45996629A>T | CA399978404 | MAPT | c.700A>T (p.Thr234Ser) c.613A>T (p.Thr205Ser) c.787A>T (p.Thr263Ser) n.651A>T n.19A>T c.1963A>T (p.Thr655Ser) c.1765A>T (p.Thr589Ser) c.1738A>T (p.Thr580Ser) c.1792A>T (p.Thr598Ser) n.741A>T n.6072A>T c.2050A>T (p.Thr684Ser) c.1876A>T (p.Thr626Ser) c.1852A>T (p.Thr618Ser) c.985A>T (p.Thr329Ser) c.898A>T (p.Thr300Ser) c.811A>T (p.Thr271Ser) n.711A>T | |
17 | g.45996630C>A | CA399978405 | MAPT | c.701C>A (p.Thr234Asn) c.614C>A (p.Thr205Asn) c.788C>A (p.Thr263Asn) n.652C>A n.20C>A c.1964C>A (p.Thr655Asn) c.1766C>A (p.Thr589Asn) c.1739C>A (p.Thr580Asn) c.1793C>A (p.Thr598Asn) n.742C>A n.6073C>A c.2051C>A (p.Thr684Asn) c.1877C>A (p.Thr626Asn) c.1853C>A (p.Thr618Asn) c.986C>A (p.Thr329Asn) c.899C>A (p.Thr300Asn) c.812C>A (p.Thr271Asn) n.712C>A | COSMIC COSMIC |
17 | g.45996630C>G | CA399978406 | MAPT | c.701C>G (p.Thr234Ser) c.614C>G (p.Thr205Ser) c.788C>G (p.Thr263Ser) n.652C>G n.20C>G c.1964C>G (p.Thr655Ser) c.1766C>G (p.Thr589Ser) c.1739C>G (p.Thr580Ser) c.1793C>G (p.Thr598Ser) n.742C>G n.6073C>G c.2051C>G (p.Thr684Ser) c.1877C>G (p.Thr626Ser) c.1853C>G (p.Thr618Ser) c.986C>G (p.Thr329Ser) c.899C>G (p.Thr300Ser) c.812C>G (p.Thr271Ser) n.712C>G | |
17 | g.45996630C>T | CA399978407 | MAPT | c.701C>T (p.Thr234Ile) c.614C>T (p.Thr205Ile) c.788C>T (p.Thr263Ile) n.652C>T n.20C>T c.1964C>T (p.Thr655Ile) c.1766C>T (p.Thr589Ile) c.1739C>T (p.Thr580Ile) c.1793C>T (p.Thr598Ile) n.742C>T n.6073C>T c.2051C>T (p.Thr684Ile) c.1877C>T (p.Thr626Ile) c.1853C>T (p.Thr618Ile) c.986C>T (p.Thr329Ile) c.899C>T (p.Thr300Ile) c.812C>T (p.Thr271Ile) n.712C>T | gnomAD v4 |
17 | g.45996631T>A | CA500644060 | MAPT | c.702T>A (p.Thr234=) c.615T>A (p.Thr205=) c.789T>A (p.Thr263=) n.653T>A n.21T>A c.1965T>A (p.Thr655=) c.1767T>A (p.Thr589=) c.1740T>A (p.Thr580=) c.1794T>A (p.Thr598=) n.743T>A n.6074T>A c.2052T>A (p.Thr684=) c.1878T>A (p.Thr626=) c.1854T>A (p.Thr618=) c.987T>A (p.Thr329=) c.900T>A (p.Thr300=) c.813T>A (p.Thr271=) n.713T>A | |
17 | g.45996631T>C | CA500644062 | MAPT | c.702T>C (p.Thr234=) c.615T>C (p.Thr205=) c.789T>C (p.Thr263=) n.653T>C n.21T>C c.1965T>C (p.Thr655=) c.1767T>C (p.Thr589=) c.1740T>C (p.Thr580=) c.1794T>C (p.Thr598=) n.743T>C n.6074T>C c.2052T>C (p.Thr684=) c.1878T>C (p.Thr626=) c.1854T>C (p.Thr618=) c.987T>C (p.Thr329=) c.900T>C (p.Thr300=) c.813T>C (p.Thr271=) n.713T>C | |
17 | g.45996631T>G | CA500644061 | MAPT | c.702T>G (p.Thr234=) c.615T>G (p.Thr205=) c.789T>G (p.Thr263=) n.653T>G n.21T>G c.1965T>G (p.Thr655=) c.1767T>G (p.Thr589=) c.1740T>G (p.Thr580=) c.1794T>G (p.Thr598=) n.743T>G n.6074T>G c.2052T>G (p.Thr684=) c.1878T>G (p.Thr626=) c.1854T>G (p.Thr618=) c.987T>G (p.Thr329=) c.900T>G (p.Thr300=) c.813T>G (p.Thr271=) n.713T>G | |
17 | g.45996632G>A | CA399978408 | MAPT | c.703G>A (p.Glu235Lys) c.616G>A (p.Glu206Lys) c.790G>A (p.Glu264Lys) n.654G>A n.22G>A c.1966G>A (p.Glu656Lys) c.1768G>A (p.Glu590Lys) c.1741G>A (p.Glu581Lys) c.1795G>A (p.Glu599Lys) n.744G>A n.6075G>A c.2053G>A (p.Glu685Lys) c.1879G>A (p.Glu627Lys) c.1855G>A (p.Glu619Lys) c.988G>A (p.Glu330Lys) c.901G>A (p.Glu301Lys) c.814G>A (p.Glu272Lys) n.714G>A | |
17 | g.45996632G>C | CA399978409 | MAPT | c.703G>C (p.Glu235Gln) c.616G>C (p.Glu206Gln) c.790G>C (p.Glu264Gln) n.654G>C n.22G>C c.1966G>C (p.Glu656Gln) c.1768G>C (p.Glu590Gln) c.1741G>C (p.Glu581Gln) c.1795G>C (p.Glu599Gln) n.744G>C n.6075G>C c.2053G>C (p.Glu685Gln) c.1879G>C (p.Glu627Gln) c.1855G>C (p.Glu619Gln) c.988G>C (p.Glu330Gln) c.901G>C (p.Glu301Gln) c.814G>C (p.Glu272Gln) n.714G>C | |
17 | g.45996632G>T | CA399978410 | MAPT | c.703G>T (p.Glu235Ter) c.616G>T (p.Glu206Ter) c.790G>T (p.Glu264Ter) n.654G>T n.22G>T c.1966G>T (p.Glu656Ter) c.1768G>T (p.Glu590Ter) c.1741G>T (p.Glu581Ter) c.1795G>T (p.Glu599Ter) n.744G>T n.6075G>T c.2053G>T (p.Glu685Ter) c.1879G>T (p.Glu627Ter) c.1855G>T (p.Glu619Ter) c.988G>T (p.Glu330Ter) c.901G>T (p.Glu301Ter) c.814G>T (p.Glu272Ter) n.714G>T | |
17 | g.45996633A>C | CA399978413 | MAPT | c.704A>C (p.Glu235Ala) c.617A>C (p.Glu206Ala) c.791A>C (p.Glu264Ala) n.655A>C n.23A>C c.1967A>C (p.Glu656Ala) c.1769A>C (p.Glu590Ala) c.1742A>C (p.Glu581Ala) c.1796A>C (p.Glu599Ala) n.745A>C n.6076A>C c.2054A>C (p.Glu685Ala) c.1880A>C (p.Glu627Ala) c.1856A>C (p.Glu619Ala) c.989A>C (p.Glu330Ala) c.902A>C (p.Glu301Ala) c.815A>C (p.Glu272Ala) n.715A>C | |
17 | g.45996633A>G | CA399978411 | MAPT | c.704A>G (p.Glu235Gly) c.617A>G (p.Glu206Gly) c.791A>G (p.Glu264Gly) n.655A>G n.23A>G c.1967A>G (p.Glu656Gly) c.1769A>G (p.Glu590Gly) c.1742A>G (p.Glu581Gly) c.1796A>G (p.Glu599Gly) n.745A>G n.6076A>G c.2054A>G (p.Glu685Gly) c.1880A>G (p.Glu627Gly) c.1856A>G (p.Glu619Gly) c.989A>G (p.Glu330Gly) c.902A>G (p.Glu301Gly) c.815A>G (p.Glu272Gly) n.715A>G | |
17 | g.45996633A>T | CA399978412 | MAPT | c.704A>T (p.Glu235Val) c.617A>T (p.Glu206Val) c.791A>T (p.Glu264Val) n.655A>T n.23A>T c.1967A>T (p.Glu656Val) c.1769A>T (p.Glu590Val) c.1742A>T (p.Glu581Val) c.1796A>T (p.Glu599Val) n.745A>T n.6076A>T c.2054A>T (p.Glu685Val) c.1880A>T (p.Glu627Val) c.1856A>T (p.Glu619Val) c.989A>T (p.Glu330Val) c.902A>T (p.Glu301Val) c.815A>T (p.Glu272Val) n.715A>T | |
17 | g.45996634G>A | CA500644063 | MAPT | c.705G>A (p.Glu235=) c.618G>A (p.Glu206=) c.792G>A (p.Glu264=) n.656G>A n.24G>A c.1968G>A (p.Glu656=) c.1770G>A (p.Glu590=) c.1743G>A (p.Glu581=) c.1797G>A (p.Glu599=) n.746G>A n.6077G>A c.2055G>A (p.Glu685=) c.1881G>A (p.Glu627=) c.1857G>A (p.Glu619=) c.990G>A (p.Glu330=) c.903G>A (p.Glu301=) c.816G>A (p.Glu272=) n.716G>A | |
17 | g.45996634G>C | CA399978414 | MAPT | c.705G>C (p.Glu235Asp) c.618G>C (p.Glu206Asp) c.792G>C (p.Glu264Asp) n.656G>C n.24G>C c.1968G>C (p.Glu656Asp) c.1770G>C (p.Glu590Asp) c.1743G>C (p.Glu581Asp) c.1797G>C (p.Glu599Asp) n.746G>C n.6077G>C c.2055G>C (p.Glu685Asp) c.1881G>C (p.Glu627Asp) c.1857G>C (p.Glu619Asp) c.990G>C (p.Glu330Asp) c.903G>C (p.Glu301Asp) c.816G>C (p.Glu272Asp) n.716G>C | gnomAD v4 |
17 | g.45996634G>T | CA399978415 | MAPT | c.705G>T (p.Glu235Asp) c.618G>T (p.Glu206Asp) c.792G>T (p.Glu264Asp) n.656G>T n.24G>T c.1968G>T (p.Glu656Asp) c.1770G>T (p.Glu590Asp) c.1743G>T (p.Glu581Asp) c.1797G>T (p.Glu599Asp) n.746G>T n.6077G>T c.2055G>T (p.Glu685Asp) c.1881G>T (p.Glu627Asp) c.1857G>T (p.Glu619Asp) c.990G>T (p.Glu330Asp) c.903G>T (p.Glu301Asp) c.816G>T (p.Glu272Asp) n.716G>T | |
17 | g.45996635A>C | CA399978416 | MAPT | c.706A>C (p.Asn236His) c.619A>C (p.Asn207His) c.793A>C (p.Asn265His) n.657A>C n.25A>C c.1969A>C (p.Asn657His) c.1771A>C (p.Asn591His) c.1744A>C (p.Asn582His) c.1798A>C (p.Asn600His) n.747A>C n.6078A>C c.2056A>C (p.Asn686His) c.1882A>C (p.Asn628His) c.1858A>C (p.Asn620His) c.991A>C (p.Asn331His) c.904A>C (p.Asn302His) c.817A>C (p.Asn273His) n.717A>C | |
17 | g.45996635A>G | CA399978417 | MAPT | c.706A>G (p.Asn236Asp) c.619A>G (p.Asn207Asp) c.793A>G (p.Asn265Asp) n.657A>G n.25A>G c.1969A>G (p.Asn657Asp) c.1771A>G (p.Asn591Asp) c.1744A>G (p.Asn582Asp) c.1798A>G (p.Asn600Asp) n.747A>G n.6078A>G c.2056A>G (p.Asn686Asp) c.1882A>G (p.Asn628Asp) c.1858A>G (p.Asn620Asp) c.991A>G (p.Asn331Asp) c.904A>G (p.Asn302Asp) c.817A>G (p.Asn273Asp) n.717A>G | |
17 | g.45996635A>T | CA399978418 | MAPT | c.706A>T (p.Asn236Tyr) c.619A>T (p.Asn207Tyr) c.793A>T (p.Asn265Tyr) n.657A>T n.25A>T c.1969A>T (p.Asn657Tyr) c.1771A>T (p.Asn591Tyr) c.1744A>T (p.Asn582Tyr) c.1798A>T (p.Asn600Tyr) n.747A>T n.6078A>T c.2056A>T (p.Asn686Tyr) c.1882A>T (p.Asn628Tyr) c.1858A>T (p.Asn620Tyr) c.991A>T (p.Asn331Tyr) c.904A>T (p.Asn302Tyr) c.817A>T (p.Asn273Tyr) n.717A>T | |
17 | g.45996636A>C | CA399978419 | MAPT | c.707A>C (p.Asn236Thr) c.620A>C (p.Asn207Thr) c.794A>C (p.Asn265Thr) n.658A>C n.26A>C c.1970A>C (p.Asn657Thr) c.1772A>C (p.Asn591Thr) c.1745A>C (p.Asn582Thr) c.1799A>C (p.Asn600Thr) n.748A>C n.6079A>C c.2057A>C (p.Asn686Thr) c.1883A>C (p.Asn628Thr) c.1859A>C (p.Asn620Thr) c.992A>C (p.Asn331Thr) c.905A>C (p.Asn302Thr) c.818A>C (p.Asn273Thr) n.718A>C | |
17 | g.45996636A>G | CA399978420 | MAPT | c.707A>G (p.Asn236Ser) c.620A>G (p.Asn207Ser) c.794A>G (p.Asn265Ser) n.658A>G n.26A>G c.1970A>G (p.Asn657Ser) c.1772A>G (p.Asn591Ser) c.1745A>G (p.Asn582Ser) c.1799A>G (p.Asn600Ser) n.748A>G n.6079A>G c.2057A>G (p.Asn686Ser) c.1883A>G (p.Asn628Ser) c.1859A>G (p.Asn620Ser) c.992A>G (p.Asn331Ser) c.905A>G (p.Asn302Ser) c.818A>G (p.Asn273Ser) n.718A>G | |
17 | g.45996636A>T | CA399978421 | MAPT | c.707A>T (p.Asn236Ile) c.620A>T (p.Asn207Ile) c.794A>T (p.Asn265Ile) n.658A>T n.26A>T c.1970A>T (p.Asn657Ile) c.1772A>T (p.Asn591Ile) c.1745A>T (p.Asn582Ile) c.1799A>T (p.Asn600Ile) n.748A>T n.6079A>T c.2057A>T (p.Asn686Ile) c.1883A>T (p.Asn628Ile) c.1859A>T (p.Asn620Ile) c.992A>T (p.Asn331Ile) c.905A>T (p.Asn302Ile) c.818A>T (p.Asn273Ile) n.718A>T | |
17 | g.45996637C>A | CA399978422 | MAPT | c.708C>A (p.Asn236Lys) c.621C>A (p.Asn207Lys) c.795C>A (p.Asn265Lys) n.659C>A n.27C>A c.1971C>A (p.Asn657Lys) c.1773C>A (p.Asn591Lys) c.1746C>A (p.Asn582Lys) c.1800C>A (p.Asn600Lys) n.749C>A n.6080C>A c.2058C>A (p.Asn686Lys) c.1884C>A (p.Asn628Lys) c.1860C>A (p.Asn620Lys) c.993C>A (p.Asn331Lys) c.906C>A (p.Asn302Lys) c.819C>A (p.Asn273Lys) n.719C>A | |
17 | g.45996637C= | CA2262095040 | MAPT | c.708C= (p.Asn236=) c.621C= (p.Asn207=) c.795C= (p.Asn265=) n.659C= n.27C= c.1971C= (p.Asn657=) c.1773C= (p.Asn591=) c.1746C= (p.Asn582=) c.1800C= (p.Asn600=) n.749C= n.6080C= c.2058C= (p.Asn686=) c.1884C= (p.Asn628=) c.1860C= (p.Asn620=) c.993C= (p.Asn331=) c.906C= (p.Asn302=) c.819C= (p.Asn273=) n.719C= | |
17 | g.45996637C>G | CA399978423 | MAPT | c.708C>G (p.Asn236Lys) c.621C>G (p.Asn207Lys) c.795C>G (p.Asn265Lys) n.659C>G n.27C>G c.1971C>G (p.Asn657Lys) c.1773C>G (p.Asn591Lys) c.1746C>G (p.Asn582Lys) c.1800C>G (p.Asn600Lys) n.749C>G n.6080C>G c.2058C>G (p.Asn686Lys) c.1884C>G (p.Asn628Lys) c.1860C>G (p.Asn620Lys) c.993C>G (p.Asn331Lys) c.906C>G (p.Asn302Lys) c.819C>G (p.Asn273Lys) n.719C>G | gnomAD v4 |
17 | g.45996637C>T | CA8618063 | MAPT | c.708C>T (p.Asn236=) c.621C>T (p.Asn207=) c.795C>T (p.Asn265=) n.659C>T n.27C>T c.1971C>T (p.Asn657=) c.1773C>T (p.Asn591=) c.1746C>T (p.Asn582=) c.1800C>T (p.Asn600=) n.749C>T n.6080C>T c.2058C>T (p.Asn686=) c.1884C>T (p.Asn628=) c.1860C>T (p.Asn620=) c.993C>T (p.Asn331=) c.906C>T (p.Asn302=) c.819C>T (p.Asn273=) n.719C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996638C>A | CA399978424 | MAPT | c.709C>A (p.Leu237Met) c.622C>A (p.Leu208Met) c.796C>A (p.Leu266Met) n.660C>A n.28C>A c.1972C>A (p.Leu658Met) c.1774C>A (p.Leu592Met) c.1747C>A (p.Leu583Met) c.1801C>A (p.Leu601Met) n.750C>A n.6081C>A c.2059C>A (p.Leu687Met) c.1885C>A (p.Leu629Met) c.1861C>A (p.Leu621Met) c.994C>A (p.Leu332Met) c.907C>A (p.Leu303Met) c.820C>A (p.Leu274Met) n.720C>A | |
17 | g.45996638C= | CA2262095041 | MAPT | c.709C= (p.Leu237=) c.622C= (p.Leu208=) c.796C= (p.Leu266=) n.660C= n.28C= c.1972C= (p.Leu658=) c.1774C= (p.Leu592=) c.1747C= (p.Leu583=) c.1801C= (p.Leu601=) n.750C= n.6081C= c.2059C= (p.Leu687=) c.1885C= (p.Leu629=) c.1861C= (p.Leu621=) c.994C= (p.Leu332=) c.907C= (p.Leu303=) c.820C= (p.Leu274=) n.720C= | |
17 | g.45996638C>G | CA225417 | MAPT | c.709C>G (p.Leu237Val) c.622C>G (p.Leu208Val) c.796C>G (p.Leu266Val) n.660C>G n.28C>G c.1972C>G (p.Leu658Val) c.1774C>G (p.Leu592Val) c.1747C>G (p.Leu583Val) c.1801C>G (p.Leu601Val) n.750C>G n.6081C>G c.2059C>G (p.Leu687Val) c.1885C>G (p.Leu629Val) c.1861C>G (p.Leu621Val) c.994C>G (p.Leu332Val) c.907C>G (p.Leu303Val) c.820C>G (p.Leu274Val) n.720C>G | ClinVar dbSNP |
17 | g.45996638C>T | CA8618064 | MAPT | c.709C>T (p.Leu237=) c.622C>T (p.Leu208=) c.796C>T (p.Leu266=) n.660C>T n.28C>T c.1972C>T (p.Leu658=) c.1774C>T (p.Leu592=) c.1747C>T (p.Leu583=) c.1801C>T (p.Leu601=) n.750C>T n.6081C>T c.2059C>T (p.Leu687=) c.1885C>T (p.Leu629=) c.1861C>T (p.Leu621=) c.994C>T (p.Leu332=) c.907C>T (p.Leu303=) c.820C>T (p.Leu274=) n.720C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996639T>A | CA399978425 | MAPT | c.710T>A (p.Leu237Gln) c.623T>A (p.Leu208Gln) c.797T>A (p.Leu266Gln) n.661T>A n.29T>A c.1973T>A (p.Leu658Gln) c.1775T>A (p.Leu592Gln) c.1748T>A (p.Leu583Gln) c.1802T>A (p.Leu601Gln) n.751T>A n.6082T>A c.2060T>A (p.Leu687Gln) c.1886T>A (p.Leu629Gln) c.1862T>A (p.Leu621Gln) c.995T>A (p.Leu332Gln) c.908T>A (p.Leu303Gln) c.821T>A (p.Leu274Gln) n.721T>A | |
17 | g.45996639T>C | CA399978427 | MAPT | c.710T>C (p.Leu237Pro) c.623T>C (p.Leu208Pro) c.797T>C (p.Leu266Pro) n.661T>C n.29T>C c.1973T>C (p.Leu658Pro) c.1775T>C (p.Leu592Pro) c.1748T>C (p.Leu583Pro) c.1802T>C (p.Leu601Pro) n.751T>C n.6082T>C c.2060T>C (p.Leu687Pro) c.1886T>C (p.Leu629Pro) c.1862T>C (p.Leu621Pro) c.995T>C (p.Leu332Pro) c.908T>C (p.Leu303Pro) c.821T>C (p.Leu274Pro) n.721T>C | |
17 | g.45996639T>G | CA399978426 | MAPT | c.710T>G (p.Leu237Arg) c.623T>G (p.Leu208Arg) c.797T>G (p.Leu266Arg) n.661T>G n.29T>G c.1973T>G (p.Leu658Arg) c.1775T>G (p.Leu592Arg) c.1748T>G (p.Leu583Arg) c.1802T>G (p.Leu601Arg) n.751T>G n.6082T>G c.2060T>G (p.Leu687Arg) c.1886T>G (p.Leu629Arg) c.1862T>G (p.Leu621Arg) c.995T>G (p.Leu332Arg) c.908T>G (p.Leu303Arg) c.821T>G (p.Leu274Arg) n.721T>G | |
17 | g.45996640G>A | CA8618065 | MAPT | c.711G>A (p.Leu237=) c.624G>A (p.Leu208=) c.798G>A (p.Leu266=) n.662G>A n.30G>A c.1974G>A (p.Leu658=) c.1776G>A (p.Leu592=) c.1749G>A (p.Leu583=) c.1803G>A (p.Leu601=) n.752G>A n.6083G>A c.2061G>A (p.Leu687=) c.1887G>A (p.Leu629=) c.1863G>A (p.Leu621=) c.996G>A (p.Leu332=) c.909G>A (p.Leu303=) c.822G>A (p.Leu274=) n.722G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996640G>C | CA500644065 | MAPT | c.711G>C (p.Leu237=) c.624G>C (p.Leu208=) c.798G>C (p.Leu266=) n.662G>C n.30G>C c.1974G>C (p.Leu658=) c.1776G>C (p.Leu592=) c.1749G>C (p.Leu583=) c.1803G>C (p.Leu601=) n.752G>C n.6083G>C c.2061G>C (p.Leu687=) c.1887G>C (p.Leu629=) c.1863G>C (p.Leu621=) c.996G>C (p.Leu332=) c.909G>C (p.Leu303=) c.822G>C (p.Leu274=) n.722G>C | |
17 | g.45996640G= | CA2262095042 | MAPT | c.711G= (p.Leu237=) c.624G= (p.Leu208=) c.798G= (p.Leu266=) n.662G= n.30G= c.1974G= (p.Leu658=) c.1776G= (p.Leu592=) c.1749G= (p.Leu583=) c.1803G= (p.Leu601=) n.752G= n.6083G= c.2061G= (p.Leu687=) c.1887G= (p.Leu629=) c.1863G= (p.Leu621=) c.996G= (p.Leu332=) c.909G= (p.Leu303=) c.822G= (p.Leu274=) n.722G= | |
17 | g.45996640G>T | CA500644064 | MAPT | c.711G>T (p.Leu237=) c.624G>T (p.Leu208=) c.798G>T (p.Leu266=) n.662G>T n.30G>T c.1974G>T (p.Leu658=) c.1776G>T (p.Leu592=) c.1749G>T (p.Leu583=) c.1803G>T (p.Leu601=) n.752G>T n.6083G>T c.2061G>T (p.Leu687=) c.1887G>T (p.Leu629=) c.1863G>T (p.Leu621=) c.996G>T (p.Leu332=) c.909G>T (p.Leu303=) c.822G>T (p.Leu274=) n.722G>T | |
17 | g.45996641A>C | CA399978428 | MAPT | c.712A>C (p.Lys238Gln) c.625A>C (p.Lys209Gln) c.799A>C (p.Lys267Gln) n.663A>C n.31A>C c.1975A>C (p.Lys659Gln) c.1777A>C (p.Lys593Gln) c.1750A>C (p.Lys584Gln) c.1804A>C (p.Lys602Gln) n.753A>C n.6084A>C c.2062A>C (p.Lys688Gln) c.1888A>C (p.Lys630Gln) c.1864A>C (p.Lys622Gln) c.997A>C (p.Lys333Gln) c.910A>C (p.Lys304Gln) c.823A>C (p.Lys275Gln) n.723A>C | |
17 | g.45996641A>G | CA399978429 | MAPT | c.712A>G (p.Lys238Glu) c.625A>G (p.Lys209Glu) c.799A>G (p.Lys267Glu) n.663A>G n.31A>G c.1975A>G (p.Lys659Glu) c.1777A>G (p.Lys593Glu) c.1750A>G (p.Lys584Glu) c.1804A>G (p.Lys602Glu) n.753A>G n.6084A>G c.2062A>G (p.Lys688Glu) c.1888A>G (p.Lys630Glu) c.1864A>G (p.Lys622Glu) c.997A>G (p.Lys333Glu) c.910A>G (p.Lys304Glu) c.823A>G (p.Lys275Glu) n.723A>G | |
17 | g.45996641A>T | CA399978430 | MAPT | c.712A>T (p.Lys238Ter) c.625A>T (p.Lys209Ter) c.799A>T (p.Lys267Ter) n.663A>T n.31A>T c.1975A>T (p.Lys659Ter) c.1777A>T (p.Lys593Ter) c.1750A>T (p.Lys584Ter) c.1804A>T (p.Lys602Ter) n.753A>T n.6084A>T c.2062A>T (p.Lys688Ter) c.1888A>T (p.Lys630Ter) c.1864A>T (p.Lys622Ter) c.997A>T (p.Lys333Ter) c.910A>T (p.Lys304Ter) c.823A>T (p.Lys275Ter) n.723A>T | |
17 | g.45996642A>C | CA399978431 | MAPT | c.713A>C (p.Lys238Thr) c.626A>C (p.Lys209Thr) c.800A>C (p.Lys267Thr) n.664A>C n.32A>C c.1976A>C (p.Lys659Thr) c.1778A>C (p.Lys593Thr) c.1751A>C (p.Lys584Thr) c.1805A>C (p.Lys602Thr) n.754A>C n.6085A>C c.2063A>C (p.Lys688Thr) c.1889A>C (p.Lys630Thr) c.1865A>C (p.Lys622Thr) c.998A>C (p.Lys333Thr) c.911A>C (p.Lys304Thr) c.824A>C (p.Lys275Thr) n.724A>C | |
17 | g.45996642A>G | CA399978432 | MAPT | c.713A>G (p.Lys238Arg) c.626A>G (p.Lys209Arg) c.800A>G (p.Lys267Arg) n.664A>G n.32A>G c.1976A>G (p.Lys659Arg) c.1778A>G (p.Lys593Arg) c.1751A>G (p.Lys584Arg) c.1805A>G (p.Lys602Arg) n.754A>G n.6085A>G c.2063A>G (p.Lys688Arg) c.1889A>G (p.Lys630Arg) c.1865A>G (p.Lys622Arg) c.998A>G (p.Lys333Arg) c.911A>G (p.Lys304Arg) c.824A>G (p.Lys275Arg) n.724A>G | |
17 | g.45996642A>T | CA399978433 | MAPT | c.713A>T (p.Lys238Met) c.626A>T (p.Lys209Met) c.800A>T (p.Lys267Met) n.664A>T n.32A>T c.1976A>T (p.Lys659Met) c.1778A>T (p.Lys593Met) c.1751A>T (p.Lys584Met) c.1805A>T (p.Lys602Met) n.754A>T n.6085A>T c.2063A>T (p.Lys688Met) c.1889A>T (p.Lys630Met) c.1865A>T (p.Lys622Met) c.998A>T (p.Lys333Met) c.911A>T (p.Lys304Met) c.824A>T (p.Lys275Met) n.724A>T | |
17 | g.45996643G>A | CA500644066 | MAPT | c.714G>A (p.Lys238=) c.627G>A (p.Lys209=) c.801G>A (p.Lys267=) n.665G>A n.33G>A c.1977G>A (p.Lys659=) c.1779G>A (p.Lys593=) c.1752G>A (p.Lys584=) c.1806G>A (p.Lys602=) n.755G>A n.6086G>A c.2064G>A (p.Lys688=) c.1890G>A (p.Lys630=) c.1866G>A (p.Lys622=) c.999G>A (p.Lys333=) c.912G>A (p.Lys304=) c.825G>A (p.Lys275=) n.725G>A | |
17 | g.45996643G>C | CA399978434 | MAPT | c.714G>C (p.Lys238Asn) c.627G>C (p.Lys209Asn) c.801G>C (p.Lys267Asn) n.665G>C n.33G>C c.1977G>C (p.Lys659Asn) c.1779G>C (p.Lys593Asn) c.1752G>C (p.Lys584Asn) c.1806G>C (p.Lys602Asn) n.755G>C n.6086G>C c.2064G>C (p.Lys688Asn) c.1890G>C (p.Lys630Asn) c.1866G>C (p.Lys622Asn) c.999G>C (p.Lys333Asn) c.912G>C (p.Lys304Asn) c.825G>C (p.Lys275Asn) n.725G>C | |
17 | g.45996643G>T | CA399978435 | MAPT | c.714G>T (p.Lys238Asn) c.627G>T (p.Lys209Asn) c.801G>T (p.Lys267Asn) n.665G>T n.33G>T c.1977G>T (p.Lys659Asn) c.1779G>T (p.Lys593Asn) c.1752G>T (p.Lys584Asn) c.1806G>T (p.Lys602Asn) n.755G>T n.6086G>T c.2064G>T (p.Lys688Asn) c.1890G>T (p.Lys630Asn) c.1866G>T (p.Lys622Asn) c.999G>T (p.Lys333Asn) c.912G>T (p.Lys304Asn) c.825G>T (p.Lys275Asn) n.725G>T | |
17 | g.45996644C>A | CA399978436 | MAPT | c.715C>A (p.His239Asn) c.628C>A (p.His210Asn) c.802C>A (p.His268Asn) n.666C>A n.34C>A c.1978C>A (p.His660Asn) c.1780C>A (p.His594Asn) c.1753C>A (p.His585Asn) c.1807C>A (p.His603Asn) n.756C>A n.6087C>A c.2065C>A (p.His689Asn) c.1891C>A (p.His631Asn) c.1867C>A (p.His623Asn) c.1000C>A (p.His334Asn) c.913C>A (p.His305Asn) c.826C>A (p.His276Asn) n.726C>A | |
17 | g.45996644C>G | CA399978437 | MAPT | c.715C>G (p.His239Asp) c.628C>G (p.His210Asp) c.802C>G (p.His268Asp) n.666C>G n.34C>G c.1978C>G (p.His660Asp) c.1780C>G (p.His594Asp) c.1753C>G (p.His585Asp) c.1807C>G (p.His603Asp) n.756C>G n.6087C>G c.2065C>G (p.His689Asp) c.1891C>G (p.His631Asp) c.1867C>G (p.His623Asp) c.1000C>G (p.His334Asp) c.913C>G (p.His305Asp) c.826C>G (p.His276Asp) n.726C>G | |
17 | g.45996644C>T | CA399978438 | MAPT | c.715C>T (p.His239Tyr) c.628C>T (p.His210Tyr) c.802C>T (p.His268Tyr) n.666C>T n.34C>T c.1978C>T (p.His660Tyr) c.1780C>T (p.His594Tyr) c.1753C>T (p.His585Tyr) c.1807C>T (p.His603Tyr) n.756C>T n.6087C>T c.2065C>T (p.His689Tyr) c.1891C>T (p.His631Tyr) c.1867C>T (p.His623Tyr) c.1000C>T (p.His334Tyr) c.913C>T (p.His305Tyr) c.826C>T (p.His276Tyr) n.726C>T | |
17 | g.45996645A>C | CA399978439 | MAPT | c.716A>C (p.His239Pro) c.629A>C (p.His210Pro) c.803A>C (p.His268Pro) n.667A>C n.35A>C c.1979A>C (p.His660Pro) c.1781A>C (p.His594Pro) c.1754A>C (p.His585Pro) c.1808A>C (p.His603Pro) n.757A>C n.6088A>C c.2066A>C (p.His689Pro) c.1892A>C (p.His631Pro) c.1868A>C (p.His623Pro) c.1001A>C (p.His334Pro) c.914A>C (p.His305Pro) c.827A>C (p.His276Pro) n.727A>C | |
17 | g.45996645A>G | CA399978441 | MAPT | c.716A>G (p.His239Arg) c.629A>G (p.His210Arg) c.803A>G (p.His268Arg) n.667A>G n.35A>G c.1979A>G (p.His660Arg) c.1781A>G (p.His594Arg) c.1754A>G (p.His585Arg) c.1808A>G (p.His603Arg) n.757A>G n.6088A>G c.2066A>G (p.His689Arg) c.1892A>G (p.His631Arg) c.1868A>G (p.His623Arg) c.1001A>G (p.His334Arg) c.914A>G (p.His305Arg) c.827A>G (p.His276Arg) n.727A>G | |
17 | g.45996645A>T | CA399978440 | MAPT | c.716A>T (p.His239Leu) c.629A>T (p.His210Leu) c.803A>T (p.His268Leu) n.667A>T n.35A>T c.1979A>T (p.His660Leu) c.1781A>T (p.His594Leu) c.1754A>T (p.His585Leu) c.1808A>T (p.His603Leu) n.757A>T n.6088A>T c.2066A>T (p.His689Leu) c.1892A>T (p.His631Leu) c.1868A>T (p.His623Leu) c.1001A>T (p.His334Leu) c.914A>T (p.His305Leu) c.827A>T (p.His276Leu) n.727A>T | |
17 | g.45996646C>A | CA399978442 | MAPT | c.717C>A (p.His239Gln) c.630C>A (p.His210Gln) c.804C>A (p.His268Gln) n.668C>A n.36C>A c.1980C>A (p.His660Gln) c.1782C>A (p.His594Gln) c.1755C>A (p.His585Gln) c.1809C>A (p.His603Gln) n.758C>A n.6089C>A c.2067C>A (p.His689Gln) c.1893C>A (p.His631Gln) c.1869C>A (p.His623Gln) c.1002C>A (p.His334Gln) c.915C>A (p.His305Gln) c.828C>A (p.His276Gln) n.728C>A | |
17 | g.45996646C= | CA2262095043 | MAPT | c.717C= (p.His239=) c.630C= (p.His210=) c.804C= (p.His268=) n.668C= n.36C= c.1980C= (p.His660=) c.1782C= (p.His594=) c.1755C= (p.His585=) c.1809C= (p.His603=) n.758C= n.6089C= c.2067C= (p.His689=) c.1893C= (p.His631=) c.1869C= (p.His623=) c.1002C= (p.His334=) c.915C= (p.His305=) c.828C= (p.His276=) n.728C= | |
17 | g.45996646C>G | CA399978443 | MAPT | c.717C>G (p.His239Gln) c.630C>G (p.His210Gln) c.804C>G (p.His268Gln) n.668C>G n.36C>G c.1980C>G (p.His660Gln) c.1782C>G (p.His594Gln) c.1755C>G (p.His585Gln) c.1809C>G (p.His603Gln) n.758C>G n.6089C>G c.2067C>G (p.His689Gln) c.1893C>G (p.His631Gln) c.1869C>G (p.His623Gln) c.1002C>G (p.His334Gln) c.915C>G (p.His305Gln) c.828C>G (p.His276Gln) n.728C>G | |
17 | g.45996646C>T | CA500644067 | MAPT | c.717C>T (p.His239=) c.630C>T (p.His210=) c.804C>T (p.His268=) n.668C>T n.36C>T c.1980C>T (p.His660=) c.1782C>T (p.His594=) c.1755C>T (p.His585=) c.1809C>T (p.His603=) n.758C>T n.6089C>T c.2067C>T (p.His689=) c.1893C>T (p.His631=) c.1869C>T (p.His623=) c.1002C>T (p.His334=) c.915C>T (p.His305=) c.828C>T (p.His276=) n.728C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996647C>A | CA399978444 | MAPT | c.718C>A (p.Gln240Lys) c.631C>A (p.Gln211Lys) c.805C>A (p.Gln269Lys) n.669C>A n.37C>A c.1981C>A (p.Gln661Lys) c.1783C>A (p.Gln595Lys) c.1756C>A (p.Gln586Lys) c.1810C>A (p.Gln604Lys) n.759C>A n.6090C>A c.2068C>A (p.Gln690Lys) c.1894C>A (p.Gln632Lys) c.1870C>A (p.Gln624Lys) c.1003C>A (p.Gln335Lys) c.916C>A (p.Gln306Lys) c.829C>A (p.Gln277Lys) n.729C>A | |
17 | g.45996647C>G | CA399978445 | MAPT | c.718C>G (p.Gln240Glu) c.631C>G (p.Gln211Glu) c.805C>G (p.Gln269Glu) n.669C>G n.37C>G c.1981C>G (p.Gln661Glu) c.1783C>G (p.Gln595Glu) c.1756C>G (p.Gln586Glu) c.1810C>G (p.Gln604Glu) n.759C>G n.6090C>G c.2068C>G (p.Gln690Glu) c.1894C>G (p.Gln632Glu) c.1870C>G (p.Gln624Glu) c.1003C>G (p.Gln335Glu) c.916C>G (p.Gln306Glu) c.829C>G (p.Gln277Glu) n.729C>G | |
17 | g.45996647C>T | CA399978446 | MAPT | c.718C>T (p.Gln240Ter) c.631C>T (p.Gln211Ter) c.805C>T (p.Gln269Ter) n.669C>T n.37C>T c.1981C>T (p.Gln661Ter) c.1783C>T (p.Gln595Ter) c.1756C>T (p.Gln586Ter) c.1810C>T (p.Gln604Ter) n.759C>T n.6090C>T c.2068C>T (p.Gln690Ter) c.1894C>T (p.Gln632Ter) c.1870C>T (p.Gln624Ter) c.1003C>T (p.Gln335Ter) c.916C>T (p.Gln306Ter) c.829C>T (p.Gln277Ter) n.729C>T | |
17 | g.45996648A= | CA2262095044 | MAPT | c.719A= (p.Gln240=) c.632A= (p.Gln211=) c.806A= (p.Gln269=) n.670A= n.38A= c.1982A= (p.Gln661=) c.1784A= (p.Gln595=) c.1757A= (p.Gln586=) c.1811A= (p.Gln604=) n.760A= n.6091A= c.2069A= (p.Gln690=) c.1895A= (p.Gln632=) c.1871A= (p.Gln624=) c.1004A= (p.Gln335=) c.917A= (p.Gln306=) c.830A= (p.Gln277=) n.730A= | |
17 | g.45996648A>C | CA399978447 | MAPT | c.719A>C (p.Gln240Pro) c.632A>C (p.Gln211Pro) c.806A>C (p.Gln269Pro) n.670A>C n.38A>C c.1982A>C (p.Gln661Pro) c.1784A>C (p.Gln595Pro) c.1757A>C (p.Gln586Pro) c.1811A>C (p.Gln604Pro) n.760A>C n.6091A>C c.2069A>C (p.Gln690Pro) c.1895A>C (p.Gln632Pro) c.1871A>C (p.Gln624Pro) c.1004A>C (p.Gln335Pro) c.917A>C (p.Gln306Pro) c.830A>C (p.Gln277Pro) n.730A>C | |
17 | g.45996648A>G | CA399978448 | MAPT | c.719A>G (p.Gln240Arg) c.632A>G (p.Gln211Arg) c.806A>G (p.Gln269Arg) n.670A>G n.38A>G c.1982A>G (p.Gln661Arg) c.1784A>G (p.Gln595Arg) c.1757A>G (p.Gln586Arg) c.1811A>G (p.Gln604Arg) n.760A>G n.6091A>G c.2069A>G (p.Gln690Arg) c.1895A>G (p.Gln632Arg) c.1871A>G (p.Gln624Arg) c.1004A>G (p.Gln335Arg) c.917A>G (p.Gln306Arg) c.830A>G (p.Gln277Arg) n.730A>G | |
17 | g.45996648A>T | CA399978449 | MAPT | c.719A>T (p.Gln240Leu) c.632A>T (p.Gln211Leu) c.806A>T (p.Gln269Leu) n.670A>T n.38A>T c.1982A>T (p.Gln661Leu) c.1784A>T (p.Gln595Leu) c.1757A>T (p.Gln586Leu) c.1811A>T (p.Gln604Leu) n.760A>T n.6091A>T c.2069A>T (p.Gln690Leu) c.1895A>T (p.Gln632Leu) c.1871A>T (p.Gln624Leu) c.1004A>T (p.Gln335Leu) c.917A>T (p.Gln306Leu) c.830A>T (p.Gln277Leu) n.730A>T | ClinVar dbSNP gnomAD v4 |
17 | g.45996649G>A | CA500644068 | MAPT | c.720G>A (p.Gln240=) c.633G>A (p.Gln211=) c.807G>A (p.Gln269=) n.671G>A n.39G>A c.1983G>A (p.Gln661=) c.1785G>A (p.Gln595=) c.1758G>A (p.Gln586=) c.1812G>A (p.Gln604=) n.761G>A n.6092G>A c.2070G>A (p.Gln690=) c.1896G>A (p.Gln632=) c.1872G>A (p.Gln624=) c.1005G>A (p.Gln335=) c.918G>A (p.Gln306=) c.831G>A (p.Gln277=) n.731G>A | |
17 | g.45996649G>C | CA399978450 | MAPT | c.720G>C (p.Gln240His) c.633G>C (p.Gln211His) c.807G>C (p.Gln269His) n.671G>C n.39G>C c.1983G>C (p.Gln661His) c.1785G>C (p.Gln595His) c.1758G>C (p.Gln586His) c.1812G>C (p.Gln604His) n.761G>C n.6092G>C c.2070G>C (p.Gln690His) c.1896G>C (p.Gln632His) c.1872G>C (p.Gln624His) c.1005G>C (p.Gln335His) c.918G>C (p.Gln306His) c.831G>C (p.Gln277His) n.731G>C | |
17 | g.45996649G= | CA2262095045 | MAPT | c.720G= (p.Gln240=) c.633G= (p.Gln211=) c.807G= (p.Gln269=) n.671G= n.39G= c.1983G= (p.Gln661=) c.1785G= (p.Gln595=) c.1758G= (p.Gln586=) c.1812G= (p.Gln604=) n.761G= n.6092G= c.2070G= (p.Gln690=) c.1896G= (p.Gln632=) c.1872G= (p.Gln624=) c.1005G= (p.Gln335=) c.918G= (p.Gln306=) c.831G= (p.Gln277=) n.731G= | |
17 | g.45996649G>T | CA399978451 | MAPT | c.720G>T (p.Gln240His) c.633G>T (p.Gln211His) c.807G>T (p.Gln269His) n.671G>T n.39G>T c.1983G>T (p.Gln661His) c.1785G>T (p.Gln595His) c.1758G>T (p.Gln586His) c.1812G>T (p.Gln604His) n.761G>T n.6092G>T c.2070G>T (p.Gln690His) c.1896G>T (p.Gln632His) c.1872G>T (p.Gln624His) c.1005G>T (p.Gln335His) c.918G>T (p.Gln306His) c.831G>T (p.Gln277His) n.731G>T | dbSNP |
17 | g.45996650C>A | CA399978453 | MAPT | c.721C>A (p.Pro241Thr) c.634C>A (p.Pro212Thr) c.808C>A (p.Pro270Thr) n.672C>A n.40C>A c.1984C>A (p.Pro662Thr) c.1786C>A (p.Pro596Thr) c.1759C>A (p.Pro587Thr) c.1813C>A (p.Pro605Thr) n.762C>A n.6093C>A c.2071C>A (p.Pro691Thr) c.1897C>A (p.Pro633Thr) c.1873C>A (p.Pro625Thr) c.1006C>A (p.Pro336Thr) c.919C>A (p.Pro307Thr) c.832C>A (p.Pro278Thr) n.732C>A | |
17 | g.45996650C>G | CA399978454 | MAPT | c.721C>G (p.Pro241Ala) c.634C>G (p.Pro212Ala) c.808C>G (p.Pro270Ala) n.672C>G n.40C>G c.1984C>G (p.Pro662Ala) c.1786C>G (p.Pro596Ala) c.1759C>G (p.Pro587Ala) c.1813C>G (p.Pro605Ala) n.762C>G n.6093C>G c.2071C>G (p.Pro691Ala) c.1897C>G (p.Pro633Ala) c.1873C>G (p.Pro625Ala) c.1006C>G (p.Pro336Ala) c.919C>G (p.Pro307Ala) c.832C>G (p.Pro278Ala) n.732C>G | |
17 | g.45996650C>T | CA399978452 | MAPT | c.721C>T (p.Pro241Ser) c.634C>T (p.Pro212Ser) c.808C>T (p.Pro270Ser) n.672C>T n.40C>T c.1984C>T (p.Pro662Ser) c.1786C>T (p.Pro596Ser) c.1759C>T (p.Pro587Ser) c.1813C>T (p.Pro605Ser) n.762C>T n.6093C>T c.2071C>T (p.Pro691Ser) c.1897C>T (p.Pro633Ser) c.1873C>T (p.Pro625Ser) c.1006C>T (p.Pro336Ser) c.919C>T (p.Pro307Ser) c.832C>T (p.Pro278Ser) n.732C>T | |
17 | g.45996651C>A | CA399978455 | MAPT | c.722C>A (p.Pro241Gln) c.635C>A (p.Pro212Gln) c.809C>A (p.Pro270Gln) n.673C>A n.41C>A c.1985C>A (p.Pro662Gln) c.1787C>A (p.Pro596Gln) c.1760C>A (p.Pro587Gln) c.1814C>A (p.Pro605Gln) n.763C>A n.6094C>A c.2072C>A (p.Pro691Gln) c.1898C>A (p.Pro633Gln) c.1874C>A (p.Pro625Gln) c.1007C>A (p.Pro336Gln) c.920C>A (p.Pro307Gln) c.833C>A (p.Pro278Gln) n.733C>A | |
17 | g.45996651C= | CA2262095046 | MAPT | c.722C= (p.Pro241=) c.635C= (p.Pro212=) c.809C= (p.Pro270=) n.673C= n.41C= c.1985C= (p.Pro662=) c.1787C= (p.Pro596=) c.1760C= (p.Pro587=) c.1814C= (p.Pro605=) n.763C= n.6094C= c.2072C= (p.Pro691=) c.1898C= (p.Pro633=) c.1874C= (p.Pro625=) c.1007C= (p.Pro336=) c.920C= (p.Pro307=) c.833C= (p.Pro278=) n.733C= | |
17 | g.45996651C>G | CA399978456 | MAPT | c.722C>G (p.Pro241Arg) c.635C>G (p.Pro212Arg) c.809C>G (p.Pro270Arg) n.673C>G n.41C>G c.1985C>G (p.Pro662Arg) c.1787C>G (p.Pro596Arg) c.1760C>G (p.Pro587Arg) c.1814C>G (p.Pro605Arg) n.763C>G n.6094C>G c.2072C>G (p.Pro691Arg) c.1898C>G (p.Pro633Arg) c.1874C>G (p.Pro625Arg) c.1007C>G (p.Pro336Arg) c.920C>G (p.Pro307Arg) c.833C>G (p.Pro278Arg) n.733C>G | |
17 | g.45996651C>T | CA291107190 | MAPT | c.722C>T (p.Pro241Leu) c.635C>T (p.Pro212Leu) c.809C>T (p.Pro270Leu) n.673C>T n.41C>T c.1985C>T (p.Pro662Leu) c.1787C>T (p.Pro596Leu) c.1760C>T (p.Pro587Leu) c.1814C>T (p.Pro605Leu) n.763C>T n.6094C>T c.2072C>T (p.Pro691Leu) c.1898C>T (p.Pro633Leu) c.1874C>T (p.Pro625Leu) c.1007C>T (p.Pro336Leu) c.920C>T (p.Pro307Leu) c.833C>T (p.Pro278Leu) n.733C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996652G>A | CA225419 | MAPT | c.723G>A (p.Pro241=) c.636G>A (p.Pro212=) c.810G>A (p.Pro270=) n.674G>A n.42G>A c.1986G>A (p.Pro662=) c.1788G>A (p.Pro596=) c.1761G>A (p.Pro587=) c.1815G>A (p.Pro605=) n.764G>A n.6095G>A c.2073G>A (p.Pro691=) c.1899G>A (p.Pro633=) c.1875G>A (p.Pro625=) c.1008G>A (p.Pro336=) c.921G>A (p.Pro307=) c.834G>A (p.Pro278=) n.734G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996652G>C | CA500644070 | MAPT | c.723G>C (p.Pro241=) c.636G>C (p.Pro212=) c.810G>C (p.Pro270=) n.674G>C n.42G>C c.1986G>C (p.Pro662=) c.1788G>C (p.Pro596=) c.1761G>C (p.Pro587=) c.1815G>C (p.Pro605=) n.764G>C n.6095G>C c.2073G>C (p.Pro691=) c.1899G>C (p.Pro633=) c.1875G>C (p.Pro625=) c.1008G>C (p.Pro336=) c.921G>C (p.Pro307=) c.834G>C (p.Pro278=) n.734G>C | dbSNP |
17 | g.45996652G= | CA2262095047 | MAPT | c.723G= (p.Pro241=) c.636G= (p.Pro212=) c.810G= (p.Pro270=) n.674G= n.42G= c.1986G= (p.Pro662=) c.1788G= (p.Pro596=) c.1761G= (p.Pro587=) c.1815G= (p.Pro605=) n.764G= n.6095G= c.2073G= (p.Pro691=) c.1899G= (p.Pro633=) c.1875G= (p.Pro625=) c.1008G= (p.Pro336=) c.921G= (p.Pro307=) c.834G= (p.Pro278=) n.734G= | |
17 | g.45996652G>T | CA500644069 | MAPT | c.723G>T (p.Pro241=) c.636G>T (p.Pro212=) c.810G>T (p.Pro270=) n.674G>T n.42G>T c.1986G>T (p.Pro662=) c.1788G>T (p.Pro596=) c.1761G>T (p.Pro587=) c.1815G>T (p.Pro605=) n.764G>T n.6095G>T c.2073G>T (p.Pro691=) c.1899G>T (p.Pro633=) c.1875G>T (p.Pro625=) c.1008G>T (p.Pro336=) c.921G>T (p.Pro307=) c.834G>T (p.Pro278=) n.734G>T | |
17 | g.45996653G>A | CA399978457 | MAPT | c.724G>A (p.Gly242Arg) c.637G>A (p.Gly213Arg) c.811G>A (p.Gly271Arg) n.675G>A n.43G>A c.1987G>A (p.Gly663Arg) c.1789G>A (p.Gly597Arg) c.1762G>A (p.Gly588Arg) c.1816G>A (p.Gly606Arg) n.765G>A n.6096G>A c.2074G>A (p.Gly692Arg) c.1900G>A (p.Gly634Arg) c.1876G>A (p.Gly626Arg) c.1009G>A (p.Gly337Arg) c.922G>A (p.Gly308Arg) c.835G>A (p.Gly279Arg) n.735G>A | dbSNP |
17 | g.45996653G>C | CA399978458 | MAPT | c.724G>C (p.Gly242Arg) c.637G>C (p.Gly213Arg) c.811G>C (p.Gly271Arg) n.675G>C n.43G>C c.1987G>C (p.Gly663Arg) c.1789G>C (p.Gly597Arg) c.1762G>C (p.Gly588Arg) c.1816G>C (p.Gly606Arg) n.765G>C n.6096G>C c.2074G>C (p.Gly692Arg) c.1900G>C (p.Gly634Arg) c.1876G>C (p.Gly626Arg) c.1009G>C (p.Gly337Arg) c.922G>C (p.Gly308Arg) c.835G>C (p.Gly279Arg) n.735G>C | |
17 | g.45996653G= | CA2262095048 | MAPT | c.724G= (p.Gly242=) c.637G= (p.Gly213=) c.811G= (p.Gly271=) n.675G= n.43G= c.1987G= (p.Gly663=) c.1789G= (p.Gly597=) c.1762G= (p.Gly588=) c.1816G= (p.Gly606=) n.765G= n.6096G= c.2074G= (p.Gly692=) c.1900G= (p.Gly634=) c.1876G= (p.Gly626=) c.1009G= (p.Gly337=) c.922G= (p.Gly308=) c.835G= (p.Gly279=) n.735G= | |
17 | g.45996653G>T | CA399978459 | MAPT | c.724G>T (p.Gly242Ter) c.637G>T (p.Gly213Ter) c.811G>T (p.Gly271Ter) n.675G>T n.43G>T c.1987G>T (p.Gly663Ter) c.1789G>T (p.Gly597Ter) c.1762G>T (p.Gly588Ter) c.1816G>T (p.Gly606Ter) n.765G>T n.6096G>T c.2074G>T (p.Gly692Ter) c.1900G>T (p.Gly634Ter) c.1876G>T (p.Gly626Ter) c.1009G>T (p.Gly337Ter) c.922G>T (p.Gly308Ter) c.835G>T (p.Gly279Ter) n.735G>T | |
17 | g.45996654G>A | CA399978460 | MAPT | c.725G>A (p.Gly242Glu) c.638G>A (p.Gly213Glu) c.812G>A (p.Gly271Glu) n.676G>A n.44G>A c.1988G>A (p.Gly663Glu) c.1790G>A (p.Gly597Glu) c.1763G>A (p.Gly588Glu) c.1817G>A (p.Gly606Glu) n.766G>A n.6097G>A c.2075G>A (p.Gly692Glu) c.1901G>A (p.Gly634Glu) c.1877G>A (p.Gly626Glu) c.1010G>A (p.Gly337Glu) c.923G>A (p.Gly308Glu) c.836G>A (p.Gly279Glu) n.736G>A | |
17 | g.45996654G>C | CA399978461 | MAPT | c.725G>C (p.Gly242Ala) c.638G>C (p.Gly213Ala) c.812G>C (p.Gly271Ala) n.676G>C n.44G>C c.1988G>C (p.Gly663Ala) c.1790G>C (p.Gly597Ala) c.1763G>C (p.Gly588Ala) c.1817G>C (p.Gly606Ala) n.766G>C n.6097G>C c.2075G>C (p.Gly692Ala) c.1901G>C (p.Gly634Ala) c.1877G>C (p.Gly626Ala) c.1010G>C (p.Gly337Ala) c.923G>C (p.Gly308Ala) c.836G>C (p.Gly279Ala) n.736G>C | |
17 | g.45996654G>T | CA399978462 | MAPT | c.725G>T (p.Gly242Val) c.638G>T (p.Gly213Val) c.812G>T (p.Gly271Val) n.676G>T n.44G>T c.1988G>T (p.Gly663Val) c.1790G>T (p.Gly597Val) c.1763G>T (p.Gly588Val) c.1817G>T (p.Gly606Val) n.766G>T n.6097G>T c.2075G>T (p.Gly692Val) c.1901G>T (p.Gly634Val) c.1877G>T (p.Gly626Val) c.1010G>T (p.Gly337Val) c.923G>T (p.Gly308Val) c.836G>T (p.Gly279Val) n.736G>T | |
17 | g.45996655A>C | CA500644071 | MAPT | c.726A>C (p.Gly242=) c.639A>C (p.Gly213=) c.813A>C (p.Gly271=) n.677A>C n.45A>C c.1989A>C (p.Gly663=) c.1791A>C (p.Gly597=) c.1764A>C (p.Gly588=) c.1818A>C (p.Gly606=) n.767A>C n.6098A>C c.2076A>C (p.Gly692=) c.1902A>C (p.Gly634=) c.1878A>C (p.Gly626=) c.1011A>C (p.Gly337=) c.924A>C (p.Gly308=) c.837A>C (p.Gly279=) n.737A>C | |
17 | g.45996655A>G | CA500644072 | MAPT | c.726A>G (p.Gly242=) c.639A>G (p.Gly213=) c.813A>G (p.Gly271=) n.677A>G n.45A>G c.1989A>G (p.Gly663=) c.1791A>G (p.Gly597=) c.1764A>G (p.Gly588=) c.1818A>G (p.Gly606=) n.767A>G n.6098A>G c.2076A>G (p.Gly692=) c.1902A>G (p.Gly634=) c.1878A>G (p.Gly626=) c.1011A>G (p.Gly337=) c.924A>G (p.Gly308=) c.837A>G (p.Gly279=) n.737A>G | gnomAD v4 |
17 | g.45996655A>T | CA500644073 | MAPT | c.726A>T (p.Gly242=) c.639A>T (p.Gly213=) c.813A>T (p.Gly271=) n.677A>T n.45A>T c.1989A>T (p.Gly663=) c.1791A>T (p.Gly597=) c.1764A>T (p.Gly588=) c.1818A>T (p.Gly606=) n.767A>T n.6098A>T c.2076A>T (p.Gly692=) c.1902A>T (p.Gly634=) c.1878A>T (p.Gly626=) c.1011A>T (p.Gly337=) c.924A>T (p.Gly308=) c.837A>T (p.Gly279=) n.737A>T | |
17 | g.45996656G>A | CA399978463 | MAPT | c.727G>A (p.Gly243Ser) c.640G>A (p.Gly214Ser) c.814G>A (p.Gly272Ser) n.678G>A n.46G>A c.1990G>A (p.Gly664Ser) c.1792G>A (p.Gly598Ser) c.1765G>A (p.Gly589Ser) c.1819G>A (p.Gly607Ser) n.768G>A n.6099G>A c.2077G>A (p.Gly693Ser) c.1903G>A (p.Gly635Ser) c.1879G>A (p.Gly627Ser) c.1012G>A (p.Gly338Ser) c.925G>A (p.Gly309Ser) c.838G>A (p.Gly280Ser) n.738G>A | gnomAD v4 |
17 | g.45996656G>C | CA399978464 | MAPT | c.727G>C (p.Gly243Arg) c.640G>C (p.Gly214Arg) c.814G>C (p.Gly272Arg) n.678G>C n.46G>C c.1990G>C (p.Gly664Arg) c.1792G>C (p.Gly598Arg) c.1765G>C (p.Gly589Arg) c.1819G>C (p.Gly607Arg) n.768G>C n.6099G>C c.2077G>C (p.Gly693Arg) c.1903G>C (p.Gly635Arg) c.1879G>C (p.Gly627Arg) c.1012G>C (p.Gly338Arg) c.925G>C (p.Gly309Arg) c.838G>C (p.Gly280Arg) n.738G>C | |
17 | g.45996656G>T | CA399978465 | MAPT | c.727G>T (p.Gly243Cys) c.640G>T (p.Gly214Cys) c.814G>T (p.Gly272Cys) n.678G>T n.46G>T c.1990G>T (p.Gly664Cys) c.1792G>T (p.Gly598Cys) c.1765G>T (p.Gly589Cys) c.1819G>T (p.Gly607Cys) n.768G>T n.6099G>T c.2077G>T (p.Gly693Cys) c.1903G>T (p.Gly635Cys) c.1879G>T (p.Gly627Cys) c.1012G>T (p.Gly338Cys) c.925G>T (p.Gly309Cys) c.838G>T (p.Gly280Cys) n.738G>T | |
17 | g.45996657G>A | CA399978467 | MAPT | c.728G>A (p.Gly243Asp) c.641G>A (p.Gly214Asp) c.815G>A (p.Gly272Asp) n.679G>A n.47G>A c.1991G>A (p.Gly664Asp) c.1793G>A (p.Gly598Asp) c.1766G>A (p.Gly589Asp) c.1820G>A (p.Gly607Asp) n.769G>A n.6100G>A c.2078G>A (p.Gly693Asp) c.1904G>A (p.Gly635Asp) c.1880G>A (p.Gly627Asp) c.1013G>A (p.Gly338Asp) c.926G>A (p.Gly309Asp) c.839G>A (p.Gly280Asp) n.739G>A | COSMIC COSMIC COSMIC |
17 | g.45996657G>C | CA399978466 | MAPT | c.728G>C (p.Gly243Ala) c.641G>C (p.Gly214Ala) c.815G>C (p.Gly272Ala) n.679G>C n.47G>C c.1991G>C (p.Gly664Ala) c.1793G>C (p.Gly598Ala) c.1766G>C (p.Gly589Ala) c.1820G>C (p.Gly607Ala) n.769G>C n.6100G>C c.2078G>C (p.Gly693Ala) c.1904G>C (p.Gly635Ala) c.1880G>C (p.Gly627Ala) c.1013G>C (p.Gly338Ala) c.926G>C (p.Gly309Ala) c.839G>C (p.Gly280Ala) n.739G>C | |
17 | g.45996657G= | CA2262095049 | MAPT | c.728G= (p.Gly243=) c.641G= (p.Gly214=) c.815G= (p.Gly272=) n.679G= n.47G= c.1991G= (p.Gly664=) c.1793G= (p.Gly598=) c.1766G= (p.Gly589=) c.1820G= (p.Gly607=) n.769G= n.6100G= c.2078G= (p.Gly693=) c.1904G= (p.Gly635=) c.1880G= (p.Gly627=) c.1013G= (p.Gly338=) c.926G= (p.Gly309=) c.839G= (p.Gly280=) n.739G= | |
17 | g.45996657G>T | CA225421 | MAPT | c.728G>T (p.Gly243Val) c.641G>T (p.Gly214Val) c.815G>T (p.Gly272Val) n.679G>T n.47G>T c.1991G>T (p.Gly664Val) c.1793G>T (p.Gly598Val) c.1766G>T (p.Gly589Val) c.1820G>T (p.Gly607Val) n.769G>T n.6100G>T c.2078G>T (p.Gly693Val) c.1904G>T (p.Gly635Val) c.1880G>T (p.Gly627Val) c.1013G>T (p.Gly338Val) c.926G>T (p.Gly309Val) c.839G>T (p.Gly280Val) n.739G>T | ClinVar dbSNP |
17 | g.45996658C>A | CA500644075 | MAPT | c.729C>A (p.Gly243=) c.642C>A (p.Gly214=) c.816C>A (p.Gly272=) n.680C>A n.48C>A c.1992C>A (p.Gly664=) c.1794C>A (p.Gly598=) c.1767C>A (p.Gly589=) c.1821C>A (p.Gly607=) n.770C>A n.6101C>A c.2079C>A (p.Gly693=) c.1905C>A (p.Gly635=) c.1881C>A (p.Gly627=) c.1014C>A (p.Gly338=) c.927C>A (p.Gly309=) c.840C>A (p.Gly280=) n.740C>A | dbSNP |
17 | g.45996658C= | CA2262095050 | MAPT | c.729C= (p.Gly243=) c.642C= (p.Gly214=) c.816C= (p.Gly272=) n.680C= n.48C= c.1992C= (p.Gly664=) c.1794C= (p.Gly598=) c.1767C= (p.Gly589=) c.1821C= (p.Gly607=) n.770C= n.6101C= c.2079C= (p.Gly693=) c.1905C= (p.Gly635=) c.1881C= (p.Gly627=) c.1014C= (p.Gly338=) c.927C= (p.Gly309=) c.840C= (p.Gly280=) n.740C= | |
17 | g.45996658C>G | CA500644074 | MAPT | c.729C>G (p.Gly243=) c.642C>G (p.Gly214=) c.816C>G (p.Gly272=) n.680C>G n.48C>G c.1992C>G (p.Gly664=) c.1794C>G (p.Gly598=) c.1767C>G (p.Gly589=) c.1821C>G (p.Gly607=) n.770C>G n.6101C>G c.2079C>G (p.Gly693=) c.1905C>G (p.Gly635=) c.1881C>G (p.Gly627=) c.1014C>G (p.Gly338=) c.927C>G (p.Gly309=) c.840C>G (p.Gly280=) n.740C>G | |
17 | g.45996658C>T | CA8618066 | MAPT | c.729C>T (p.Gly243=) c.642C>T (p.Gly214=) c.816C>T (p.Gly272=) n.680C>T n.48C>T c.1992C>T (p.Gly664=) c.1794C>T (p.Gly598=) c.1767C>T (p.Gly589=) c.1821C>T (p.Gly607=) n.770C>T n.6101C>T c.2079C>T (p.Gly693=) c.1905C>T (p.Gly635=) c.1881C>T (p.Gly627=) c.1014C>T (p.Gly338=) c.927C>T (p.Gly309=) c.840C>T (p.Gly280=) n.740C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996659G>A | CA399978468 | MAPT | c.730G>A (p.Gly244Arg) c.643G>A (p.Gly215Arg) c.817G>A (p.Gly273Arg) n.681G>A n.49G>A c.1993G>A (p.Gly665Arg) c.1795G>A (p.Gly599Arg) c.1768G>A (p.Gly590Arg) c.1822G>A (p.Gly608Arg) n.771G>A n.6102G>A c.2080G>A (p.Gly694Arg) c.1906G>A (p.Gly636Arg) c.1882G>A (p.Gly628Arg) c.1015G>A (p.Gly339Arg) c.928G>A (p.Gly310Arg) c.841G>A (p.Gly281Arg) n.741G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996659G>C | CA399978469 | MAPT | c.730G>C (p.Gly244Arg) c.643G>C (p.Gly215Arg) c.817G>C (p.Gly273Arg) n.681G>C n.49G>C c.1993G>C (p.Gly665Arg) c.1795G>C (p.Gly599Arg) c.1768G>C (p.Gly590Arg) c.1822G>C (p.Gly608Arg) n.771G>C n.6102G>C c.2080G>C (p.Gly694Arg) c.1906G>C (p.Gly636Arg) c.1882G>C (p.Gly628Arg) c.1015G>C (p.Gly339Arg) c.928G>C (p.Gly310Arg) c.841G>C (p.Gly281Arg) n.741G>C | |
17 | g.45996659G= | CA2262095051 | MAPT | c.730G= (p.Gly244=) c.643G= (p.Gly215=) c.817G= (p.Gly273=) n.681G= n.49G= c.1993G= (p.Gly665=) c.1795G= (p.Gly599=) c.1768G= (p.Gly590=) c.1822G= (p.Gly608=) n.771G= n.6102G= c.2080G= (p.Gly694=) c.1906G= (p.Gly636=) c.1882G= (p.Gly628=) c.1015G= (p.Gly339=) c.928G= (p.Gly310=) c.841G= (p.Gly281=) n.741G= | |
17 | g.45996659G>T | CA399978470 | MAPT | c.730G>T (p.Gly244Trp) c.643G>T (p.Gly215Trp) c.817G>T (p.Gly273Trp) n.681G>T n.49G>T c.1993G>T (p.Gly665Trp) c.1795G>T (p.Gly599Trp) c.1768G>T (p.Gly590Trp) c.1822G>T (p.Gly608Trp) n.771G>T n.6102G>T c.2080G>T (p.Gly694Trp) c.1906G>T (p.Gly636Trp) c.1882G>T (p.Gly628Trp) c.1015G>T (p.Gly339Trp) c.928G>T (p.Gly310Trp) c.841G>T (p.Gly281Trp) n.741G>T | |
17 | g.45996660G>A | CA399978471 | MAPT | c.731G>A (p.Gly244Glu) c.644G>A (p.Gly215Glu) c.818G>A (p.Gly273Glu) n.682G>A n.50G>A c.1994G>A (p.Gly665Glu) c.1796G>A (p.Gly599Glu) c.1769G>A (p.Gly590Glu) c.1823G>A (p.Gly608Glu) n.772G>A n.6103G>A c.2081G>A (p.Gly694Glu) c.1907G>A (p.Gly636Glu) c.1883G>A (p.Gly628Glu) c.1016G>A (p.Gly339Glu) c.929G>A (p.Gly310Glu) c.842G>A (p.Gly281Glu) n.742G>A | |
17 | g.45996660G>C | CA399978472 | MAPT | c.731G>C (p.Gly244Ala) c.644G>C (p.Gly215Ala) c.818G>C (p.Gly273Ala) n.682G>C n.50G>C c.1994G>C (p.Gly665Ala) c.1796G>C (p.Gly599Ala) c.1769G>C (p.Gly590Ala) c.1823G>C (p.Gly608Ala) n.772G>C n.6103G>C c.2081G>C (p.Gly694Ala) c.1907G>C (p.Gly636Ala) c.1883G>C (p.Gly628Ala) c.1016G>C (p.Gly339Ala) c.929G>C (p.Gly310Ala) c.842G>C (p.Gly281Ala) n.742G>C | |
17 | g.45996660G>T | CA399978473 | MAPT | c.731G>T (p.Gly244Val) c.644G>T (p.Gly215Val) c.818G>T (p.Gly273Val) n.682G>T n.50G>T c.1994G>T (p.Gly665Val) c.1796G>T (p.Gly599Val) c.1769G>T (p.Gly590Val) c.1823G>T (p.Gly608Val) n.772G>T n.6103G>T c.2081G>T (p.Gly694Val) c.1907G>T (p.Gly636Val) c.1883G>T (p.Gly628Val) c.1016G>T (p.Gly339Val) c.929G>T (p.Gly310Val) c.842G>T (p.Gly281Val) n.742G>T | |
17 | g.45996661G>A | CA500644077 | MAPT | c.732G>A (p.Gly244=) c.645G>A (p.Gly215=) c.819G>A (p.Gly273=) n.683G>A n.51G>A c.1995G>A (p.Gly665=) c.1797G>A (p.Gly599=) c.1770G>A (p.Gly590=) c.1824G>A (p.Gly608=) n.773G>A n.6104G>A c.2082G>A (p.Gly694=) c.1908G>A (p.Gly636=) c.1884G>A (p.Gly628=) c.1017G>A (p.Gly339=) c.930G>A (p.Gly310=) c.843G>A (p.Gly281=) n.743G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996661G>C | CA8618067 | MAPT | c.732G>C (p.Gly244=) c.645G>C (p.Gly215=) c.819G>C (p.Gly273=) n.683G>C n.51G>C c.1995G>C (p.Gly665=) c.1797G>C (p.Gly599=) c.1770G>C (p.Gly590=) c.1824G>C (p.Gly608=) n.773G>C n.6104G>C c.2082G>C (p.Gly694=) c.1908G>C (p.Gly636=) c.1884G>C (p.Gly628=) c.1017G>C (p.Gly339=) c.930G>C (p.Gly310=) c.843G>C (p.Gly281=) n.743G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996661G= | CA2262095052 | MAPT | c.732G= (p.Gly244=) c.645G= (p.Gly215=) c.819G= (p.Gly273=) n.683G= n.51G= c.1995G= (p.Gly665=) c.1797G= (p.Gly599=) c.1770G= (p.Gly590=) c.1824G= (p.Gly608=) n.773G= n.6104G= c.2082G= (p.Gly694=) c.1908G= (p.Gly636=) c.1884G= (p.Gly628=) c.1017G= (p.Gly339=) c.930G= (p.Gly310=) c.843G= (p.Gly281=) n.743G= | |
17 | g.45996661G>T | CA500644076 | MAPT | c.732G>T (p.Gly244=) c.645G>T (p.Gly215=) c.819G>T (p.Gly273=) n.683G>T n.51G>T c.1995G>T (p.Gly665=) c.1797G>T (p.Gly599=) c.1770G>T (p.Gly590=) c.1824G>T (p.Gly608=) n.773G>T n.6104G>T c.2082G>T (p.Gly694=) c.1908G>T (p.Gly636=) c.1884G>T (p.Gly628=) c.1017G>T (p.Gly339=) c.930G>T (p.Gly310=) c.843G>T (p.Gly281=) n.743G>T | |
17 | g.45996662A>C | CA399978474 | MAPT | c.733A>C (p.Lys245Gln) c.646A>C (p.Lys216Gln) c.820A>C (p.Lys274Gln) n.684A>C n.52A>C c.1996A>C (p.Lys666Gln) c.1798A>C (p.Lys600Gln) c.1771A>C (p.Lys591Gln) c.1825A>C (p.Lys609Gln) n.774A>C n.6105A>C c.2083A>C (p.Lys695Gln) c.1909A>C (p.Lys637Gln) c.1885A>C (p.Lys629Gln) c.1018A>C (p.Lys340Gln) c.931A>C (p.Lys311Gln) c.844A>C (p.Lys282Gln) n.744A>C | |
17 | g.45996662A>G | CA399978475 | MAPT | c.733A>G (p.Lys245Glu) c.646A>G (p.Lys216Glu) c.820A>G (p.Lys274Glu) n.684A>G n.52A>G c.1996A>G (p.Lys666Glu) c.1798A>G (p.Lys600Glu) c.1771A>G (p.Lys591Glu) c.1825A>G (p.Lys609Glu) n.774A>G n.6105A>G c.2083A>G (p.Lys695Glu) c.1909A>G (p.Lys637Glu) c.1885A>G (p.Lys629Glu) c.1018A>G (p.Lys340Glu) c.931A>G (p.Lys311Glu) c.844A>G (p.Lys282Glu) n.744A>G | |
17 | g.45996662A>T | CA399978476 | MAPT | c.733A>T (p.Lys245Ter) c.646A>T (p.Lys216Ter) c.820A>T (p.Lys274Ter) n.684A>T n.52A>T c.1996A>T (p.Lys666Ter) c.1798A>T (p.Lys600Ter) c.1771A>T (p.Lys591Ter) c.1825A>T (p.Lys609Ter) n.774A>T n.6105A>T c.2083A>T (p.Lys695Ter) c.1909A>T (p.Lys637Ter) c.1885A>T (p.Lys629Ter) c.1018A>T (p.Lys340Ter) c.931A>T (p.Lys311Ter) c.844A>T (p.Lys282Ter) n.744A>T | |
17 | g.45996663A>C | CA399978477 | MAPT | c.734A>C (p.Lys245Thr) c.647A>C (p.Lys216Thr) c.821A>C (p.Lys274Thr) n.685A>C n.53A>C c.1997A>C (p.Lys666Thr) c.1799A>C (p.Lys600Thr) c.1772A>C (p.Lys591Thr) c.1826A>C (p.Lys609Thr) n.775A>C n.6106A>C c.2084A>C (p.Lys695Thr) c.1910A>C (p.Lys637Thr) c.1886A>C (p.Lys629Thr) c.1019A>C (p.Lys340Thr) c.932A>C (p.Lys311Thr) c.845A>C (p.Lys282Thr) n.745A>C | |
17 | g.45996663A>G | CA399978478 | MAPT | c.734A>G (p.Lys245Arg) c.647A>G (p.Lys216Arg) c.821A>G (p.Lys274Arg) n.685A>G n.53A>G c.1997A>G (p.Lys666Arg) c.1799A>G (p.Lys600Arg) c.1772A>G (p.Lys591Arg) c.1826A>G (p.Lys609Arg) n.775A>G n.6106A>G c.2084A>G (p.Lys695Arg) c.1910A>G (p.Lys637Arg) c.1886A>G (p.Lys629Arg) c.1019A>G (p.Lys340Arg) c.932A>G (p.Lys311Arg) c.845A>G (p.Lys282Arg) n.745A>G | |
17 | g.45996663A>T | CA399978479 | MAPT | c.734A>T (p.Lys245Met) c.647A>T (p.Lys216Met) c.821A>T (p.Lys274Met) n.685A>T n.53A>T c.1997A>T (p.Lys666Met) c.1799A>T (p.Lys600Met) c.1772A>T (p.Lys591Met) c.1826A>T (p.Lys609Met) n.775A>T n.6106A>T c.2084A>T (p.Lys695Met) c.1910A>T (p.Lys637Met) c.1886A>T (p.Lys629Met) c.1019A>T (p.Lys340Met) c.932A>T (p.Lys311Met) c.845A>T (p.Lys282Met) n.745A>T |