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