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