Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.45996438G>A | CA399978017 | MAPT | c.509G>A (p.Ser170Asn) c.422G>A (p.Ser141Asn) c.596G>A (p.Ser199Asn) n.460G>A c.1772G>A (p.Ser591Asn) c.1574G>A (p.Ser525Asn) c.1547G>A (p.Ser516Asn) c.1601G>A (p.Ser534Asn) n.550G>A n.5881G>A c.1859G>A (p.Ser620Asn) c.1685G>A (p.Ser562Asn) c.1661G>A (p.Ser554Asn) c.794G>A (p.Ser265Asn) c.707G>A (p.Ser236Asn) c.620G>A (p.Ser207Asn) n.591-71G>A | |
17 | g.45996438G>C | CA399978018 | MAPT | c.509G>C (p.Ser170Thr) c.422G>C (p.Ser141Thr) c.596G>C (p.Ser199Thr) n.460G>C c.1772G>C (p.Ser591Thr) c.1574G>C (p.Ser525Thr) c.1547G>C (p.Ser516Thr) c.1601G>C (p.Ser534Thr) n.550G>C n.5881G>C c.1859G>C (p.Ser620Thr) c.1685G>C (p.Ser562Thr) c.1661G>C (p.Ser554Thr) c.794G>C (p.Ser265Thr) c.707G>C (p.Ser236Thr) c.620G>C (p.Ser207Thr) n.591-71G>C | |
17 | g.45996438G>T | CA399978019 | MAPT | c.509G>T (p.Ser170Ile) c.422G>T (p.Ser141Ile) c.596G>T (p.Ser199Ile) n.460G>T c.1772G>T (p.Ser591Ile) c.1574G>T (p.Ser525Ile) c.1547G>T (p.Ser516Ile) c.1601G>T (p.Ser534Ile) n.550G>T n.5881G>T c.1859G>T (p.Ser620Ile) c.1685G>T (p.Ser562Ile) c.1661G>T (p.Ser554Ile) c.794G>T (p.Ser265Ile) c.707G>T (p.Ser236Ile) c.620G>T (p.Ser207Ile) n.591-71G>T | |
17 | g.45996439C>A | CA399978020 | MAPT | c.510C>A (p.Ser170Arg) c.423C>A (p.Ser141Arg) c.597C>A (p.Ser199Arg) n.461C>A c.1773C>A (p.Ser591Arg) c.1575C>A (p.Ser525Arg) c.1548C>A (p.Ser516Arg) c.1602C>A (p.Ser534Arg) n.551C>A n.5882C>A c.1860C>A (p.Ser620Arg) c.1686C>A (p.Ser562Arg) c.1662C>A (p.Ser554Arg) c.795C>A (p.Ser265Arg) c.708C>A (p.Ser236Arg) c.621C>A (p.Ser207Arg) n.591-70C>A | |
17 | g.45996439C>G | CA399978021 | MAPT | c.510C>G (p.Ser170Arg) c.423C>G (p.Ser141Arg) c.597C>G (p.Ser199Arg) n.461C>G c.1773C>G (p.Ser591Arg) c.1575C>G (p.Ser525Arg) c.1548C>G (p.Ser516Arg) c.1602C>G (p.Ser534Arg) n.551C>G n.5882C>G c.1860C>G (p.Ser620Arg) c.1686C>G (p.Ser562Arg) c.1662C>G (p.Ser554Arg) c.795C>G (p.Ser265Arg) c.708C>G (p.Ser236Arg) c.621C>G (p.Ser207Arg) n.591-70C>G | |
17 | g.45996439C>T | CA500643916 | MAPT | c.510C>T (p.Ser170=) c.423C>T (p.Ser141=) c.597C>T (p.Ser199=) n.461C>T c.1773C>T (p.Ser591=) c.1575C>T (p.Ser525=) c.1548C>T (p.Ser516=) c.1602C>T (p.Ser534=) n.551C>T n.5882C>T c.1860C>T (p.Ser620=) c.1686C>T (p.Ser562=) c.1662C>T (p.Ser554=) c.795C>T (p.Ser265=) c.708C>T (p.Ser236=) c.621C>T (p.Ser207=) n.591-70C>T | |
17 | g.45996440C>A | CA399978024 | MAPT | c.511C>A (p.Pro171Thr) c.424C>A (p.Pro142Thr) c.598C>A (p.Pro200Thr) n.462C>A c.1774C>A (p.Pro592Thr) c.1576C>A (p.Pro526Thr) c.1549C>A (p.Pro517Thr) c.1603C>A (p.Pro535Thr) n.552C>A n.5883C>A c.1861C>A (p.Pro621Thr) c.1687C>A (p.Pro563Thr) c.1663C>A (p.Pro555Thr) c.796C>A (p.Pro266Thr) c.709C>A (p.Pro237Thr) c.622C>A (p.Pro208Thr) n.591-69C>A | |
17 | g.45996440C>G | CA399978023 | MAPT | c.511C>G (p.Pro171Ala) c.424C>G (p.Pro142Ala) c.598C>G (p.Pro200Ala) n.462C>G c.1774C>G (p.Pro592Ala) c.1576C>G (p.Pro526Ala) c.1549C>G (p.Pro517Ala) c.1603C>G (p.Pro535Ala) n.552C>G n.5883C>G c.1861C>G (p.Pro621Ala) c.1687C>G (p.Pro563Ala) c.1663C>G (p.Pro555Ala) c.796C>G (p.Pro266Ala) c.709C>G (p.Pro237Ala) c.622C>G (p.Pro208Ala) n.591-69C>G | |
17 | g.45996440C>T | CA399978022 | MAPT | c.511C>T (p.Pro171Ser) c.424C>T (p.Pro142Ser) c.598C>T (p.Pro200Ser) n.462C>T c.1774C>T (p.Pro592Ser) c.1576C>T (p.Pro526Ser) c.1549C>T (p.Pro517Ser) c.1603C>T (p.Pro535Ser) n.552C>T n.5883C>T c.1861C>T (p.Pro621Ser) c.1687C>T (p.Pro563Ser) c.1663C>T (p.Pro555Ser) c.796C>T (p.Pro266Ser) c.709C>T (p.Pro237Ser) c.622C>T (p.Pro208Ser) n.591-69C>T | |
17 | g.45996441C>A | CA399978025 | MAPT | c.512C>A (p.Pro171His) c.425C>A (p.Pro142His) c.599C>A (p.Pro200His) n.463C>A c.1775C>A (p.Pro592His) c.1577C>A (p.Pro526His) c.1550C>A (p.Pro517His) c.1604C>A (p.Pro535His) n.553C>A n.5884C>A c.1862C>A (p.Pro621His) c.1688C>A (p.Pro563His) c.1664C>A (p.Pro555His) c.797C>A (p.Pro266His) c.710C>A (p.Pro237His) c.623C>A (p.Pro208His) n.591-68C>A | |
17 | g.45996441C>G | CA399978027 | MAPT | c.512C>G (p.Pro171Arg) c.425C>G (p.Pro142Arg) c.599C>G (p.Pro200Arg) n.463C>G c.1775C>G (p.Pro592Arg) c.1577C>G (p.Pro526Arg) c.1550C>G (p.Pro517Arg) c.1604C>G (p.Pro535Arg) n.553C>G n.5884C>G c.1862C>G (p.Pro621Arg) c.1688C>G (p.Pro563Arg) c.1664C>G (p.Pro555Arg) c.797C>G (p.Pro266Arg) c.710C>G (p.Pro237Arg) c.623C>G (p.Pro208Arg) n.591-68C>G | |
17 | g.45996441C>T | CA399978026 | MAPT | c.512C>T (p.Pro171Leu) c.425C>T (p.Pro142Leu) c.599C>T (p.Pro200Leu) n.463C>T c.1775C>T (p.Pro592Leu) c.1577C>T (p.Pro526Leu) c.1550C>T (p.Pro517Leu) c.1604C>T (p.Pro535Leu) n.553C>T n.5884C>T c.1862C>T (p.Pro621Leu) c.1688C>T (p.Pro563Leu) c.1664C>T (p.Pro555Leu) c.797C>T (p.Pro266Leu) c.710C>T (p.Pro237Leu) c.623C>T (p.Pro208Leu) n.591-68C>T | |
17 | g.45996442C>A | CA500643918 | MAPT | c.513C>A (p.Pro171=) c.426C>A (p.Pro142=) c.600C>A (p.Pro200=) n.464C>A c.1776C>A (p.Pro592=) c.1578C>A (p.Pro526=) c.1551C>A (p.Pro517=) c.1605C>A (p.Pro535=) n.554C>A n.5885C>A c.1863C>A (p.Pro621=) c.1689C>A (p.Pro563=) c.1665C>A (p.Pro555=) c.798C>A (p.Pro266=) c.711C>A (p.Pro237=) c.624C>A (p.Pro208=) n.591-67C>A | gnomAD v4 |
17 | g.45996442C= | CA2262094969 | MAPT | c.513C= (p.Pro171=) c.426C= (p.Pro142=) c.600C= (p.Pro200=) n.464C= c.1776C= (p.Pro592=) c.1578C= (p.Pro526=) c.1551C= (p.Pro517=) c.1605C= (p.Pro535=) n.554C= n.5885C= c.1863C= (p.Pro621=) c.1689C= (p.Pro563=) c.1665C= (p.Pro555=) c.798C= (p.Pro266=) c.711C= (p.Pro237=) c.624C= (p.Pro208=) n.591-67C= | |
17 | g.45996442C>G | CA500643917 | MAPT | c.513C>G (p.Pro171=) c.426C>G (p.Pro142=) c.600C>G (p.Pro200=) n.464C>G c.1776C>G (p.Pro592=) c.1578C>G (p.Pro526=) c.1551C>G (p.Pro517=) c.1605C>G (p.Pro535=) n.554C>G n.5885C>G c.1863C>G (p.Pro621=) c.1689C>G (p.Pro563=) c.1665C>G (p.Pro555=) c.798C>G (p.Pro266=) c.711C>G (p.Pro237=) c.624C>G (p.Pro208=) n.591-67C>G | |
17 | g.45996442C>T | CA8618030 | MAPT | c.513C>T (p.Pro171=) c.426C>T (p.Pro142=) c.600C>T (p.Pro200=) n.464C>T c.1776C>T (p.Pro592=) c.1578C>T (p.Pro526=) c.1551C>T (p.Pro517=) c.1605C>T (p.Pro535=) n.554C>T n.5885C>T c.1863C>T (p.Pro621=) c.1689C>T (p.Pro563=) c.1665C>T (p.Pro555=) c.798C>T (p.Pro266=) c.711C>T (p.Pro237=) c.624C>T (p.Pro208=) n.591-67C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996443G>A | CA8618031 | MAPT | c.514G>A (p.Gly172Ser) c.427G>A (p.Gly143Ser) c.601G>A (p.Gly201Ser) n.465G>A c.1777G>A (p.Gly593Ser) c.1579G>A (p.Gly527Ser) c.1552G>A (p.Gly518Ser) c.1606G>A (p.Gly536Ser) n.555G>A n.5886G>A c.1864G>A (p.Gly622Ser) c.1690G>A (p.Gly564Ser) c.1666G>A (p.Gly556Ser) c.799G>A (p.Gly267Ser) c.712G>A (p.Gly238Ser) c.625G>A (p.Gly209Ser) n.591-66G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996443G>C | CA399978028 | MAPT | c.514G>C (p.Gly172Arg) c.427G>C (p.Gly143Arg) c.601G>C (p.Gly201Arg) n.465G>C c.1777G>C (p.Gly593Arg) c.1579G>C (p.Gly527Arg) c.1552G>C (p.Gly518Arg) c.1606G>C (p.Gly536Arg) n.555G>C n.5886G>C c.1864G>C (p.Gly622Arg) c.1690G>C (p.Gly564Arg) c.1666G>C (p.Gly556Arg) c.799G>C (p.Gly267Arg) c.712G>C (p.Gly238Arg) c.625G>C (p.Gly209Arg) n.591-66G>C | dbSNP |
17 | g.45996443G= | CA2262094970 | MAPT | c.514G= (p.Gly172=) c.427G= (p.Gly143=) c.601G= (p.Gly201=) n.465G= c.1777G= (p.Gly593=) c.1579G= (p.Gly527=) c.1552G= (p.Gly518=) c.1606G= (p.Gly536=) n.555G= n.5886G= c.1864G= (p.Gly622=) c.1690G= (p.Gly564=) c.1666G= (p.Gly556=) c.799G= (p.Gly267=) c.712G= (p.Gly238=) c.625G= (p.Gly209=) n.591-66G= | |
17 | g.45996443G>T | CA399978029 | MAPT | c.514G>T (p.Gly172Cys) c.427G>T (p.Gly143Cys) c.601G>T (p.Gly201Cys) n.465G>T c.1777G>T (p.Gly593Cys) c.1579G>T (p.Gly527Cys) c.1552G>T (p.Gly518Cys) c.1606G>T (p.Gly536Cys) n.555G>T n.5886G>T c.1864G>T (p.Gly622Cys) c.1690G>T (p.Gly564Cys) c.1666G>T (p.Gly556Cys) c.799G>T (p.Gly267Cys) c.712G>T (p.Gly238Cys) c.625G>T (p.Gly209Cys) n.591-66G>T | gnomAD v4 |
17 | g.45996444G>A | CA399978030 | MAPT | c.515G>A (p.Gly172Asp) c.428G>A (p.Gly143Asp) c.602G>A (p.Gly201Asp) n.466G>A c.1778G>A (p.Gly593Asp) c.1580G>A (p.Gly527Asp) c.1553G>A (p.Gly518Asp) c.1607G>A (p.Gly536Asp) n.556G>A n.5887G>A c.1865G>A (p.Gly622Asp) c.1691G>A (p.Gly564Asp) c.1667G>A (p.Gly556Asp) c.800G>A (p.Gly267Asp) c.713G>A (p.Gly238Asp) c.626G>A (p.Gly209Asp) n.591-65G>A | |
17 | g.45996444G>C | CA399978032 | MAPT | c.515G>C (p.Gly172Ala) c.428G>C (p.Gly143Ala) c.602G>C (p.Gly201Ala) n.466G>C c.1778G>C (p.Gly593Ala) c.1580G>C (p.Gly527Ala) c.1553G>C (p.Gly518Ala) c.1607G>C (p.Gly536Ala) n.556G>C n.5887G>C c.1865G>C (p.Gly622Ala) c.1691G>C (p.Gly564Ala) c.1667G>C (p.Gly556Ala) c.800G>C (p.Gly267Ala) c.713G>C (p.Gly238Ala) c.626G>C (p.Gly209Ala) n.591-65G>C | |
17 | g.45996444G>T | CA399978031 | MAPT | c.515G>T (p.Gly172Val) c.428G>T (p.Gly143Val) c.602G>T (p.Gly201Val) n.466G>T c.1778G>T (p.Gly593Val) c.1580G>T (p.Gly527Val) c.1553G>T (p.Gly518Val) c.1607G>T (p.Gly536Val) n.556G>T n.5887G>T c.1865G>T (p.Gly622Val) c.1691G>T (p.Gly564Val) c.1667G>T (p.Gly556Val) c.800G>T (p.Gly267Val) c.713G>T (p.Gly238Val) c.626G>T (p.Gly209Val) n.591-65G>T | COSMIC |
17 | g.45996445C>A | CA500643921 | MAPT | c.516C>A (p.Gly172=) c.429C>A (p.Gly143=) c.603C>A (p.Gly201=) n.467C>A c.1779C>A (p.Gly593=) c.1581C>A (p.Gly527=) c.1554C>A (p.Gly518=) c.1608C>A (p.Gly536=) n.557C>A n.5888C>A c.1866C>A (p.Gly622=) c.1692C>A (p.Gly564=) c.1668C>A (p.Gly556=) c.801C>A (p.Gly267=) c.714C>A (p.Gly238=) c.627C>A (p.Gly209=) n.591-64C>A | |
17 | g.45996445C= | CA2262094971 | MAPT | c.516C= (p.Gly172=) c.429C= (p.Gly143=) c.603C= (p.Gly201=) n.467C= c.1779C= (p.Gly593=) c.1581C= (p.Gly527=) c.1554C= (p.Gly518=) c.1608C= (p.Gly536=) n.557C= n.5888C= c.1866C= (p.Gly622=) c.1692C= (p.Gly564=) c.1668C= (p.Gly556=) c.801C= (p.Gly267=) c.714C= (p.Gly238=) c.627C= (p.Gly209=) n.591-64C= | |
17 | g.45996445C>G | CA500643920 | MAPT | c.516C>G (p.Gly172=) c.429C>G (p.Gly143=) c.603C>G (p.Gly201=) n.467C>G c.1779C>G (p.Gly593=) c.1581C>G (p.Gly527=) c.1554C>G (p.Gly518=) c.1608C>G (p.Gly536=) n.557C>G n.5888C>G c.1866C>G (p.Gly622=) c.1692C>G (p.Gly564=) c.1668C>G (p.Gly556=) c.801C>G (p.Gly267=) c.714C>G (p.Gly238=) c.627C>G (p.Gly209=) n.591-64C>G | |
17 | g.45996445C>T | CA500643919 | MAPT | c.516C>T (p.Gly172=) c.429C>T (p.Gly143=) c.603C>T (p.Gly201=) n.467C>T c.1779C>T (p.Gly593=) c.1581C>T (p.Gly527=) c.1554C>T (p.Gly518=) c.1608C>T (p.Gly536=) n.557C>T n.5888C>T c.1866C>T (p.Gly622=) c.1692C>T (p.Gly564=) c.1668C>T (p.Gly556=) c.801C>T (p.Gly267=) c.714C>T (p.Gly238=) c.627C>T (p.Gly209=) n.591-64C>T | dbSNP |
17 | g.45996446T>A | CA399978033 | MAPT | c.517T>A (p.Ser173Thr) c.430T>A (p.Ser144Thr) c.604T>A (p.Ser202Thr) n.468T>A c.1780T>A (p.Ser594Thr) c.1582T>A (p.Ser528Thr) c.1555T>A (p.Ser519Thr) c.1609T>A (p.Ser537Thr) n.558T>A n.5889T>A c.1867T>A (p.Ser623Thr) c.1693T>A (p.Ser565Thr) c.1669T>A (p.Ser557Thr) c.802T>A (p.Ser268Thr) c.715T>A (p.Ser239Thr) c.628T>A (p.Ser210Thr) n.591-63T>A | |
17 | g.45996446T>C | CA399978034 | MAPT | c.517T>C (p.Ser173Pro) c.430T>C (p.Ser144Pro) c.604T>C (p.Ser202Pro) n.468T>C c.1780T>C (p.Ser594Pro) c.1582T>C (p.Ser528Pro) c.1555T>C (p.Ser519Pro) c.1609T>C (p.Ser537Pro) n.558T>C n.5889T>C c.1867T>C (p.Ser623Pro) c.1693T>C (p.Ser565Pro) c.1669T>C (p.Ser557Pro) c.802T>C (p.Ser268Pro) c.715T>C (p.Ser239Pro) c.628T>C (p.Ser210Pro) n.591-63T>C | |
17 | g.45996446T>G | CA399978035 | MAPT | c.517T>G (p.Ser173Ala) c.430T>G (p.Ser144Ala) c.604T>G (p.Ser202Ala) n.468T>G c.1780T>G (p.Ser594Ala) c.1582T>G (p.Ser528Ala) c.1555T>G (p.Ser519Ala) c.1609T>G (p.Ser537Ala) n.558T>G n.5889T>G c.1867T>G (p.Ser623Ala) c.1693T>G (p.Ser565Ala) c.1669T>G (p.Ser557Ala) c.802T>G (p.Ser268Ala) c.715T>G (p.Ser239Ala) c.628T>G (p.Ser210Ala) n.591-63T>G | |
17 | g.45996447C>A | CA399978036 | MAPT | c.518C>A (p.Ser173Tyr) c.431C>A (p.Ser144Tyr) c.605C>A (p.Ser202Tyr) n.469C>A c.1781C>A (p.Ser594Tyr) c.1583C>A (p.Ser528Tyr) c.1556C>A (p.Ser519Tyr) c.1610C>A (p.Ser537Tyr) n.559C>A n.5890C>A c.1868C>A (p.Ser623Tyr) c.1694C>A (p.Ser565Tyr) c.1670C>A (p.Ser557Tyr) c.803C>A (p.Ser268Tyr) c.716C>A (p.Ser239Tyr) c.629C>A (p.Ser210Tyr) n.591-62C>A | |
17 | g.45996447C>G | CA399978037 | MAPT | c.518C>G (p.Ser173Cys) c.431C>G (p.Ser144Cys) c.605C>G (p.Ser202Cys) n.469C>G c.1781C>G (p.Ser594Cys) c.1583C>G (p.Ser528Cys) c.1556C>G (p.Ser519Cys) c.1610C>G (p.Ser537Cys) n.559C>G n.5890C>G c.1868C>G (p.Ser623Cys) c.1694C>G (p.Ser565Cys) c.1670C>G (p.Ser557Cys) c.803C>G (p.Ser268Cys) c.716C>G (p.Ser239Cys) c.629C>G (p.Ser210Cys) n.591-62C>G | |
17 | g.45996447C>T | CA399978038 | MAPT | c.518C>T (p.Ser173Phe) c.431C>T (p.Ser144Phe) c.605C>T (p.Ser202Phe) n.469C>T c.1781C>T (p.Ser594Phe) c.1583C>T (p.Ser528Phe) c.1556C>T (p.Ser519Phe) c.1610C>T (p.Ser537Phe) n.559C>T n.5890C>T c.1868C>T (p.Ser623Phe) c.1694C>T (p.Ser565Phe) c.1670C>T (p.Ser557Phe) c.803C>T (p.Ser268Phe) c.716C>T (p.Ser239Phe) c.629C>T (p.Ser210Phe) n.591-62C>T | |
17 | g.45996450del | CA500643922 | MAPT | c.521del (p.Pro174GlnfsTer?) c.434del (p.Pro145GlnfsTer?) c.608del (p.Pro203GlnfsTer?) n.472del c.1784del (p.Pro595GlnfsTer?) c.1586del (p.Pro529GlnfsTer?) c.1559del (p.Pro520GlnfsTer?) c.1613del (p.Pro538GlnfsTer?) n.562del n.5893del c.1871del (p.Pro624GlnfsTer?) c.1697del (p.Pro566GlnfsTer?) c.1673del (p.Pro558GlnfsTer?) c.806del (p.Pro269GlnfsTer?) c.719del (p.Pro240GlnfsTer?) c.632del (p.Pro211GlnfsTer?) n.591-59del | COSMIC COSMIC COSMIC COSMIC |
17 | g.45996448C>A | CA500643924 | MAPT | c.519C>A (p.Ser173=) c.432C>A (p.Ser144=) c.606C>A (p.Ser202=) n.470C>A c.1782C>A (p.Ser594=) c.1584C>A (p.Ser528=) c.1557C>A (p.Ser519=) c.1611C>A (p.Ser537=) n.560C>A n.5891C>A c.1869C>A (p.Ser623=) c.1695C>A (p.Ser565=) c.1671C>A (p.Ser557=) c.804C>A (p.Ser268=) c.717C>A (p.Ser239=) c.630C>A (p.Ser210=) n.591-61C>A | |
17 | g.45996448C= | CA2262094972 | MAPT | c.519C= (p.Ser173=) c.432C= (p.Ser144=) c.606C= (p.Ser202=) n.470C= c.1782C= (p.Ser594=) c.1584C= (p.Ser528=) c.1557C= (p.Ser519=) c.1611C= (p.Ser537=) n.560C= n.5891C= c.1869C= (p.Ser623=) c.1695C= (p.Ser565=) c.1671C= (p.Ser557=) c.804C= (p.Ser268=) c.717C= (p.Ser239=) c.630C= (p.Ser210=) n.591-61C= | |
17 | g.45996448C>G | CA500643925 | MAPT | c.519C>G (p.Ser173=) c.432C>G (p.Ser144=) c.606C>G (p.Ser202=) n.470C>G c.1782C>G (p.Ser594=) c.1584C>G (p.Ser528=) c.1557C>G (p.Ser519=) c.1611C>G (p.Ser537=) n.560C>G n.5891C>G c.1869C>G (p.Ser623=) c.1695C>G (p.Ser565=) c.1671C>G (p.Ser557=) c.804C>G (p.Ser268=) c.717C>G (p.Ser239=) c.630C>G (p.Ser210=) n.591-61C>G | |
17 | g.45996448C>T | CA500643923 | MAPT | c.519C>T (p.Ser173=) c.432C>T (p.Ser144=) c.606C>T (p.Ser202=) n.470C>T c.1782C>T (p.Ser594=) c.1584C>T (p.Ser528=) c.1557C>T (p.Ser519=) c.1611C>T (p.Ser537=) n.560C>T n.5891C>T c.1869C>T (p.Ser623=) c.1695C>T (p.Ser565=) c.1671C>T (p.Ser557=) c.804C>T (p.Ser268=) c.717C>T (p.Ser239=) c.630C>T (p.Ser210=) n.591-61C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996449C>A | CA399978039 | MAPT | c.520C>A (p.Pro174Thr) c.433C>A (p.Pro145Thr) c.607C>A (p.Pro203Thr) n.471C>A c.1783C>A (p.Pro595Thr) c.1585C>A (p.Pro529Thr) c.1558C>A (p.Pro520Thr) c.1612C>A (p.Pro538Thr) n.561C>A n.5892C>A c.1870C>A (p.Pro624Thr) c.1696C>A (p.Pro566Thr) c.1672C>A (p.Pro558Thr) c.805C>A (p.Pro269Thr) c.718C>A (p.Pro240Thr) c.631C>A (p.Pro211Thr) n.591-60C>A | |
17 | g.45996449C>G | CA399978040 | MAPT | c.520C>G (p.Pro174Ala) c.433C>G (p.Pro145Ala) c.607C>G (p.Pro203Ala) n.471C>G c.1783C>G (p.Pro595Ala) c.1585C>G (p.Pro529Ala) c.1558C>G (p.Pro520Ala) c.1612C>G (p.Pro538Ala) n.561C>G n.5892C>G c.1870C>G (p.Pro624Ala) c.1696C>G (p.Pro566Ala) c.1672C>G (p.Pro558Ala) c.805C>G (p.Pro269Ala) c.718C>G (p.Pro240Ala) c.631C>G (p.Pro211Ala) n.591-60C>G | |
17 | g.45996449C>T | CA399978041 | MAPT | c.520C>T (p.Pro174Ser) c.433C>T (p.Pro145Ser) c.607C>T (p.Pro203Ser) n.471C>T c.1783C>T (p.Pro595Ser) c.1585C>T (p.Pro529Ser) c.1558C>T (p.Pro520Ser) c.1612C>T (p.Pro538Ser) n.561C>T n.5892C>T c.1870C>T (p.Pro624Ser) c.1696C>T (p.Pro566Ser) c.1672C>T (p.Pro558Ser) c.805C>T (p.Pro269Ser) c.718C>T (p.Pro240Ser) c.631C>T (p.Pro211Ser) n.591-60C>T | |
17 | g.45996450C>A | CA399978042 | MAPT | c.521C>A (p.Pro174Gln) c.434C>A (p.Pro145Gln) c.608C>A (p.Pro203Gln) n.472C>A c.1784C>A (p.Pro595Gln) c.1586C>A (p.Pro529Gln) c.1559C>A (p.Pro520Gln) c.1613C>A (p.Pro538Gln) n.562C>A n.5893C>A c.1871C>A (p.Pro624Gln) c.1697C>A (p.Pro566Gln) c.1673C>A (p.Pro558Gln) c.806C>A (p.Pro269Gln) c.719C>A (p.Pro240Gln) c.632C>A (p.Pro211Gln) n.591-59C>A | |
17 | g.45996450C= | CA2262094973 | MAPT | c.521C= (p.Pro174=) c.434C= (p.Pro145=) c.608C= (p.Pro203=) n.472C= c.1784C= (p.Pro595=) c.1586C= (p.Pro529=) c.1559C= (p.Pro520=) c.1613C= (p.Pro538=) n.562C= n.5893C= c.1871C= (p.Pro624=) c.1697C= (p.Pro566=) c.1673C= (p.Pro558=) c.806C= (p.Pro269=) c.719C= (p.Pro240=) c.632C= (p.Pro211=) n.591-59C= | |
17 | g.45996450C>G | CA399978043 | MAPT | c.521C>G (p.Pro174Arg) c.434C>G (p.Pro145Arg) c.608C>G (p.Pro203Arg) n.472C>G c.1784C>G (p.Pro595Arg) c.1586C>G (p.Pro529Arg) c.1559C>G (p.Pro520Arg) c.1613C>G (p.Pro538Arg) n.562C>G n.5893C>G c.1871C>G (p.Pro624Arg) c.1697C>G (p.Pro566Arg) c.1673C>G (p.Pro558Arg) c.806C>G (p.Pro269Arg) c.719C>G (p.Pro240Arg) c.632C>G (p.Pro211Arg) n.591-59C>G | |
17 | g.45996450C>T | CA291107181 | MAPT | c.521C>T (p.Pro174Leu) c.434C>T (p.Pro145Leu) c.608C>T (p.Pro203Leu) n.472C>T c.1784C>T (p.Pro595Leu) c.1586C>T (p.Pro529Leu) c.1559C>T (p.Pro520Leu) c.1613C>T (p.Pro538Leu) n.562C>T n.5893C>T c.1871C>T (p.Pro624Leu) c.1697C>T (p.Pro566Leu) c.1673C>T (p.Pro558Leu) c.806C>T (p.Pro269Leu) c.719C>T (p.Pro240Leu) c.632C>T (p.Pro211Leu) n.591-59C>T | dbSNP |
17 | g.45996451A= | CA2262094974 | MAPT | c.522A= (p.Pro174=) c.435A= (p.Pro145=) c.609A= (p.Pro203=) n.473A= c.1785A= (p.Pro595=) c.1587A= (p.Pro529=) c.1560A= (p.Pro520=) c.1614A= (p.Pro538=) n.563A= n.5894A= c.1872A= (p.Pro624=) c.1698A= (p.Pro566=) c.1674A= (p.Pro558=) c.807A= (p.Pro269=) c.720A= (p.Pro240=) c.633A= (p.Pro211=) n.591-58A= | |
17 | g.45996451A>C | CA500643927 | MAPT | c.522A>C (p.Pro174=) c.435A>C (p.Pro145=) c.609A>C (p.Pro203=) n.473A>C c.1785A>C (p.Pro595=) c.1587A>C (p.Pro529=) c.1560A>C (p.Pro520=) c.1614A>C (p.Pro538=) n.563A>C n.5894A>C c.1872A>C (p.Pro624=) c.1698A>C (p.Pro566=) c.1674A>C (p.Pro558=) c.807A>C (p.Pro269=) c.720A>C (p.Pro240=) c.633A>C (p.Pro211=) n.591-58A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996451A>G | CA8618032 | MAPT | c.522A>G (p.Pro174=) c.435A>G (p.Pro145=) c.609A>G (p.Pro203=) n.473A>G c.1785A>G (p.Pro595=) c.1587A>G (p.Pro529=) c.1560A>G (p.Pro520=) c.1614A>G (p.Pro538=) n.563A>G n.5894A>G c.1872A>G (p.Pro624=) c.1698A>G (p.Pro566=) c.1674A>G (p.Pro558=) c.807A>G (p.Pro269=) c.720A>G (p.Pro240=) c.633A>G (p.Pro211=) n.591-58A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996451A>T | CA500643926 | MAPT | c.522A>T (p.Pro174=) c.435A>T (p.Pro145=) c.609A>T (p.Pro203=) n.473A>T c.1785A>T (p.Pro595=) c.1587A>T (p.Pro529=) c.1560A>T (p.Pro520=) c.1614A>T (p.Pro538=) n.563A>T n.5894A>T c.1872A>T (p.Pro624=) c.1698A>T (p.Pro566=) c.1674A>T (p.Pro558=) c.807A>T (p.Pro269=) c.720A>T (p.Pro240=) c.633A>T (p.Pro211=) n.591-58A>T | |
17 | g.45996452G>A | CA8618033 | MAPT | c.523G>A (p.Gly175Ser) c.436G>A (p.Gly146Ser) c.610G>A (p.Gly204Ser) n.474G>A c.1786G>A (p.Gly596Ser) c.1588G>A (p.Gly530Ser) c.1561G>A (p.Gly521Ser) c.1615G>A (p.Gly539Ser) n.564G>A n.5895G>A c.1873G>A (p.Gly625Ser) c.1699G>A (p.Gly567Ser) c.1675G>A (p.Gly559Ser) c.808G>A (p.Gly270Ser) c.721G>A (p.Gly241Ser) c.634G>A (p.Gly212Ser) n.591-57G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.45996452G>C | CA399978045 | MAPT | c.523G>C (p.Gly175Arg) c.436G>C (p.Gly146Arg) c.610G>C (p.Gly204Arg) n.474G>C c.1786G>C (p.Gly596Arg) c.1588G>C (p.Gly530Arg) c.1561G>C (p.Gly521Arg) c.1615G>C (p.Gly539Arg) n.564G>C n.5895G>C c.1873G>C (p.Gly625Arg) c.1699G>C (p.Gly567Arg) c.1675G>C (p.Gly559Arg) c.808G>C (p.Gly270Arg) c.721G>C (p.Gly241Arg) c.634G>C (p.Gly212Arg) n.591-57G>C | |
17 | g.45996452G= | CA2262094975 | MAPT | c.523G= (p.Gly175=) c.436G= (p.Gly146=) c.610G= (p.Gly204=) n.474G= c.1786G= (p.Gly596=) c.1588G= (p.Gly530=) c.1561G= (p.Gly521=) c.1615G= (p.Gly539=) n.564G= n.5895G= c.1873G= (p.Gly625=) c.1699G= (p.Gly567=) c.1675G= (p.Gly559=) c.808G= (p.Gly270=) c.721G= (p.Gly241=) c.634G= (p.Gly212=) n.591-57G= | |
17 | g.45996452G>T | CA399978044 | MAPT | c.523G>T (p.Gly175Cys) c.436G>T (p.Gly146Cys) c.610G>T (p.Gly204Cys) n.474G>T c.1786G>T (p.Gly596Cys) c.1588G>T (p.Gly530Cys) c.1561G>T (p.Gly521Cys) c.1615G>T (p.Gly539Cys) n.564G>T n.5895G>T c.1873G>T (p.Gly625Cys) c.1699G>T (p.Gly567Cys) c.1675G>T (p.Gly559Cys) c.808G>T (p.Gly270Cys) c.721G>T (p.Gly241Cys) c.634G>T (p.Gly212Cys) n.591-57G>T | |
17 | g.45996453G>A | CA399978046 | MAPT | c.524G>A (p.Gly175Asp) c.437G>A (p.Gly146Asp) c.611G>A (p.Gly204Asp) n.475G>A c.1787G>A (p.Gly596Asp) c.1589G>A (p.Gly530Asp) c.1562G>A (p.Gly521Asp) c.1616G>A (p.Gly539Asp) n.565G>A n.5896G>A c.1874G>A (p.Gly625Asp) c.1700G>A (p.Gly567Asp) c.1676G>A (p.Gly559Asp) c.809G>A (p.Gly270Asp) c.722G>A (p.Gly241Asp) c.635G>A (p.Gly212Asp) n.591-56G>A | |
17 | g.45996453G>C | CA399978047 | MAPT | c.524G>C (p.Gly175Ala) c.437G>C (p.Gly146Ala) c.611G>C (p.Gly204Ala) n.475G>C c.1787G>C (p.Gly596Ala) c.1589G>C (p.Gly530Ala) c.1562G>C (p.Gly521Ala) c.1616G>C (p.Gly539Ala) n.565G>C n.5896G>C c.1874G>C (p.Gly625Ala) c.1700G>C (p.Gly567Ala) c.1676G>C (p.Gly559Ala) c.809G>C (p.Gly270Ala) c.722G>C (p.Gly241Ala) c.635G>C (p.Gly212Ala) n.591-56G>C | |
17 | g.45996453G>T | CA399978048 | MAPT | c.524G>T (p.Gly175Val) c.437G>T (p.Gly146Val) c.611G>T (p.Gly204Val) n.475G>T c.1787G>T (p.Gly596Val) c.1589G>T (p.Gly530Val) c.1562G>T (p.Gly521Val) c.1616G>T (p.Gly539Val) n.565G>T n.5896G>T c.1874G>T (p.Gly625Val) c.1700G>T (p.Gly567Val) c.1676G>T (p.Gly559Val) c.809G>T (p.Gly270Val) c.722G>T (p.Gly241Val) c.635G>T (p.Gly212Val) n.591-56G>T | COSMIC COSMIC |
17 | g.45996454C>A | CA500643928 | MAPT | c.525C>A (p.Gly175=) c.438C>A (p.Gly146=) c.612C>A (p.Gly204=) n.476C>A c.1788C>A (p.Gly596=) c.1590C>A (p.Gly530=) c.1563C>A (p.Gly521=) c.1617C>A (p.Gly539=) n.566C>A n.5897C>A c.1875C>A (p.Gly625=) c.1701C>A (p.Gly567=) c.1677C>A (p.Gly559=) c.810C>A (p.Gly270=) c.723C>A (p.Gly241=) c.636C>A (p.Gly212=) n.591-55C>A | |
17 | g.45996454C= | CA2262094976 | MAPT | c.525C= (p.Gly175=) c.438C= (p.Gly146=) c.612C= (p.Gly204=) n.476C= c.1788C= (p.Gly596=) c.1590C= (p.Gly530=) c.1563C= (p.Gly521=) c.1617C= (p.Gly539=) n.566C= n.5897C= c.1875C= (p.Gly625=) c.1701C= (p.Gly567=) c.1677C= (p.Gly559=) c.810C= (p.Gly270=) c.723C= (p.Gly241=) c.636C= (p.Gly212=) n.591-55C= | |
17 | g.45996454C>G | CA500643929 | MAPT | c.525C>G (p.Gly175=) c.438C>G (p.Gly146=) c.612C>G (p.Gly204=) n.476C>G c.1788C>G (p.Gly596=) c.1590C>G (p.Gly530=) c.1563C>G (p.Gly521=) c.1617C>G (p.Gly539=) n.566C>G n.5897C>G c.1875C>G (p.Gly625=) c.1701C>G (p.Gly567=) c.1677C>G (p.Gly559=) c.810C>G (p.Gly270=) c.723C>G (p.Gly241=) c.636C>G (p.Gly212=) n.591-55C>G | |
17 | g.45996454C>T | CA291107182 | MAPT | c.525C>T (p.Gly175=) c.438C>T (p.Gly146=) c.612C>T (p.Gly204=) n.476C>T c.1788C>T (p.Gly596=) c.1590C>T (p.Gly530=) c.1563C>T (p.Gly521=) c.1617C>T (p.Gly539=) n.566C>T n.5897C>T c.1875C>T (p.Gly625=) c.1701C>T (p.Gly567=) c.1677C>T (p.Gly559=) c.810C>T (p.Gly270=) c.723C>T (p.Gly241=) c.636C>T (p.Gly212=) n.591-55C>T | dbSNP gnomAD v4 |
17 | g.45996455A>C | CA399978049 | MAPT | c.526A>C (p.Thr176Pro) c.439A>C (p.Thr147Pro) c.613A>C (p.Thr205Pro) n.477A>C c.1789A>C (p.Thr597Pro) c.1591A>C (p.Thr531Pro) c.1564A>C (p.Thr522Pro) c.1618A>C (p.Thr540Pro) n.567A>C n.5898A>C c.1876A>C (p.Thr626Pro) c.1702A>C (p.Thr568Pro) c.1678A>C (p.Thr560Pro) c.811A>C (p.Thr271Pro) c.724A>C (p.Thr242Pro) c.637A>C (p.Thr213Pro) n.591-54A>C | |
17 | g.45996455A>G | CA399978050 | MAPT | c.526A>G (p.Thr176Ala) c.439A>G (p.Thr147Ala) c.613A>G (p.Thr205Ala) n.477A>G c.1789A>G (p.Thr597Ala) c.1591A>G (p.Thr531Ala) c.1564A>G (p.Thr522Ala) c.1618A>G (p.Thr540Ala) n.567A>G n.5898A>G c.1876A>G (p.Thr626Ala) c.1702A>G (p.Thr568Ala) c.1678A>G (p.Thr560Ala) c.811A>G (p.Thr271Ala) c.724A>G (p.Thr242Ala) c.637A>G (p.Thr213Ala) n.591-54A>G | |
17 | g.45996455A>T | CA399978051 | MAPT | c.526A>T (p.Thr176Ser) c.439A>T (p.Thr147Ser) c.613A>T (p.Thr205Ser) n.477A>T c.1789A>T (p.Thr597Ser) c.1591A>T (p.Thr531Ser) c.1564A>T (p.Thr522Ser) c.1618A>T (p.Thr540Ser) n.567A>T n.5898A>T c.1876A>T (p.Thr626Ser) c.1702A>T (p.Thr568Ser) c.1678A>T (p.Thr560Ser) c.811A>T (p.Thr271Ser) c.724A>T (p.Thr242Ser) c.637A>T (p.Thr213Ser) n.591-54A>T | |
17 | g.45996456C>A | CA399978052 | MAPT | c.527C>A (p.Thr176Asn) c.440C>A (p.Thr147Asn) c.614C>A (p.Thr205Asn) n.478C>A c.1790C>A (p.Thr597Asn) c.1592C>A (p.Thr531Asn) c.1565C>A (p.Thr522Asn) c.1619C>A (p.Thr540Asn) n.568C>A n.5899C>A c.1877C>A (p.Thr626Asn) c.1703C>A (p.Thr568Asn) c.1679C>A (p.Thr560Asn) c.812C>A (p.Thr271Asn) c.725C>A (p.Thr242Asn) c.638C>A (p.Thr213Asn) n.591-53C>A | |
17 | g.45996456C= | CA2262094977 | MAPT | c.527C= (p.Thr176=) c.440C= (p.Thr147=) c.614C= (p.Thr205=) n.478C= c.1790C= (p.Thr597=) c.1592C= (p.Thr531=) c.1565C= (p.Thr522=) c.1619C= (p.Thr540=) n.568C= n.5899C= c.1877C= (p.Thr626=) c.1703C= (p.Thr568=) c.1679C= (p.Thr560=) c.812C= (p.Thr271=) c.725C= (p.Thr242=) c.638C= (p.Thr213=) n.591-53C= | |
17 | g.45996456C>G | CA399978053 | MAPT | c.527C>G (p.Thr176Ser) c.440C>G (p.Thr147Ser) c.614C>G (p.Thr205Ser) n.478C>G c.1790C>G (p.Thr597Ser) c.1592C>G (p.Thr531Ser) c.1565C>G (p.Thr522Ser) c.1619C>G (p.Thr540Ser) n.568C>G n.5899C>G c.1877C>G (p.Thr626Ser) c.1703C>G (p.Thr568Ser) c.1679C>G (p.Thr560Ser) c.812C>G (p.Thr271Ser) c.725C>G (p.Thr242Ser) c.638C>G (p.Thr213Ser) n.591-53C>G | |
17 | g.45996456C>T | CA399978054 | MAPT | c.527C>T (p.Thr176Ile) c.440C>T (p.Thr147Ile) c.614C>T (p.Thr205Ile) n.478C>T c.1790C>T (p.Thr597Ile) c.1592C>T (p.Thr531Ile) c.1565C>T (p.Thr522Ile) c.1619C>T (p.Thr540Ile) n.568C>T n.5899C>T c.1877C>T (p.Thr626Ile) c.1703C>T (p.Thr568Ile) c.1679C>T (p.Thr560Ile) c.812C>T (p.Thr271Ile) c.725C>T (p.Thr242Ile) c.638C>T (p.Thr213Ile) n.591-53C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996457T>A | CA500643931 | MAPT | c.528T>A (p.Thr176=) c.441T>A (p.Thr147=) c.615T>A (p.Thr205=) n.479T>A c.1791T>A (p.Thr597=) c.1593T>A (p.Thr531=) c.1566T>A (p.Thr522=) c.1620T>A (p.Thr540=) n.569T>A n.5900T>A c.1878T>A (p.Thr626=) c.1704T>A (p.Thr568=) c.1680T>A (p.Thr560=) c.813T>A (p.Thr271=) c.726T>A (p.Thr242=) c.639T>A (p.Thr213=) n.591-52T>A | |
17 | g.45996457T>C | CA500643932 | MAPT | c.528T>C (p.Thr176=) c.441T>C (p.Thr147=) c.615T>C (p.Thr205=) n.479T>C c.1791T>C (p.Thr597=) c.1593T>C (p.Thr531=) c.1566T>C (p.Thr522=) c.1620T>C (p.Thr540=) n.569T>C n.5900T>C c.1878T>C (p.Thr626=) c.1704T>C (p.Thr568=) c.1680T>C (p.Thr560=) c.813T>C (p.Thr271=) c.726T>C (p.Thr242=) c.639T>C (p.Thr213=) n.591-52T>C | gnomAD v4 |
17 | g.45996457T>G | CA500643930 | MAPT | c.528T>G (p.Thr176=) c.441T>G (p.Thr147=) c.615T>G (p.Thr205=) n.479T>G c.1791T>G (p.Thr597=) c.1593T>G (p.Thr531=) c.1566T>G (p.Thr522=) c.1620T>G (p.Thr540=) n.569T>G n.5900T>G c.1878T>G (p.Thr626=) c.1704T>G (p.Thr568=) c.1680T>G (p.Thr560=) c.813T>G (p.Thr271=) c.726T>G (p.Thr242=) c.639T>G (p.Thr213=) n.591-52T>G | |
17 | g.45996458C>A | CA399978057 | MAPT | c.529C>A (p.Pro177Thr) c.442C>A (p.Pro148Thr) c.616C>A (p.Pro206Thr) n.480C>A c.1792C>A (p.Pro598Thr) c.1594C>A (p.Pro532Thr) c.1567C>A (p.Pro523Thr) c.1621C>A (p.Pro541Thr) n.570C>A n.5901C>A c.1879C>A (p.Pro627Thr) c.1705C>A (p.Pro569Thr) c.1681C>A (p.Pro561Thr) c.814C>A (p.Pro272Thr) c.727C>A (p.Pro243Thr) c.640C>A (p.Pro214Thr) n.591-51C>A | |
17 | g.45996458C>G | CA399978056 | MAPT | c.529C>G (p.Pro177Ala) c.442C>G (p.Pro148Ala) c.616C>G (p.Pro206Ala) n.480C>G c.1792C>G (p.Pro598Ala) c.1594C>G (p.Pro532Ala) c.1567C>G (p.Pro523Ala) c.1621C>G (p.Pro541Ala) n.570C>G n.5901C>G c.1879C>G (p.Pro627Ala) c.1705C>G (p.Pro569Ala) c.1681C>G (p.Pro561Ala) c.814C>G (p.Pro272Ala) c.727C>G (p.Pro243Ala) c.640C>G (p.Pro214Ala) n.591-51C>G | |
17 | g.45996458C>T | CA399978055 | MAPT | c.529C>T (p.Pro177Ser) c.442C>T (p.Pro148Ser) c.616C>T (p.Pro206Ser) n.480C>T c.1792C>T (p.Pro598Ser) c.1594C>T (p.Pro532Ser) c.1567C>T (p.Pro523Ser) c.1621C>T (p.Pro541Ser) n.570C>T n.5901C>T c.1879C>T (p.Pro627Ser) c.1705C>T (p.Pro569Ser) c.1681C>T (p.Pro561Ser) c.814C>T (p.Pro272Ser) c.727C>T (p.Pro243Ser) c.640C>T (p.Pro214Ser) n.591-51C>T | |
17 | g.45996459C>A | CA399978058 | MAPT | c.530C>A (p.Pro177His) c.443C>A (p.Pro148His) c.617C>A (p.Pro206His) n.481C>A c.1793C>A (p.Pro598His) c.1595C>A (p.Pro532His) c.1568C>A (p.Pro523His) c.1622C>A (p.Pro541His) n.571C>A n.5902C>A c.1880C>A (p.Pro627His) c.1706C>A (p.Pro569His) c.1682C>A (p.Pro561His) c.815C>A (p.Pro272His) c.728C>A (p.Pro243His) c.641C>A (p.Pro214His) n.591-50C>A | |
17 | g.45996459C>G | CA399978059 | MAPT | c.530C>G (p.Pro177Arg) c.443C>G (p.Pro148Arg) c.617C>G (p.Pro206Arg) n.481C>G c.1793C>G (p.Pro598Arg) c.1595C>G (p.Pro532Arg) c.1568C>G (p.Pro523Arg) c.1622C>G (p.Pro541Arg) n.571C>G n.5902C>G c.1880C>G (p.Pro627Arg) c.1706C>G (p.Pro569Arg) c.1682C>G (p.Pro561Arg) c.815C>G (p.Pro272Arg) c.728C>G (p.Pro243Arg) c.641C>G (p.Pro214Arg) n.591-50C>G | |
17 | g.45996459C>T | CA399978060 | MAPT | c.530C>T (p.Pro177Leu) c.443C>T (p.Pro148Leu) c.617C>T (p.Pro206Leu) n.481C>T c.1793C>T (p.Pro598Leu) c.1595C>T (p.Pro532Leu) c.1568C>T (p.Pro523Leu) c.1622C>T (p.Pro541Leu) n.571C>T n.5902C>T c.1880C>T (p.Pro627Leu) c.1706C>T (p.Pro569Leu) c.1682C>T (p.Pro561Leu) c.815C>T (p.Pro272Leu) c.728C>T (p.Pro243Leu) c.641C>T (p.Pro214Leu) n.591-50C>T | |
17 | g.45996460C>A | CA500643933 | MAPT | c.531C>A (p.Pro177=) c.444C>A (p.Pro148=) c.618C>A (p.Pro206=) n.482C>A c.1794C>A (p.Pro598=) c.1596C>A (p.Pro532=) c.1569C>A (p.Pro523=) c.1623C>A (p.Pro541=) n.572C>A n.5903C>A c.1881C>A (p.Pro627=) c.1707C>A (p.Pro569=) c.1683C>A (p.Pro561=) c.816C>A (p.Pro272=) c.729C>A (p.Pro243=) c.642C>A (p.Pro214=) n.591-49C>A | |
17 | g.45996460C= | CA2262094978 | MAPT | c.531C= (p.Pro177=) c.444C= (p.Pro148=) c.618C= (p.Pro206=) n.482C= c.1794C= (p.Pro598=) c.1596C= (p.Pro532=) c.1569C= (p.Pro523=) c.1623C= (p.Pro541=) n.572C= n.5903C= c.1881C= (p.Pro627=) c.1707C= (p.Pro569=) c.1683C= (p.Pro561=) c.816C= (p.Pro272=) c.729C= (p.Pro243=) c.642C= (p.Pro214=) n.591-49C= | |
17 | g.45996460C>G | CA500643934 | MAPT | c.531C>G (p.Pro177=) c.444C>G (p.Pro148=) c.618C>G (p.Pro206=) n.482C>G c.1794C>G (p.Pro598=) c.1596C>G (p.Pro532=) c.1569C>G (p.Pro523=) c.1623C>G (p.Pro541=) n.572C>G n.5903C>G c.1881C>G (p.Pro627=) c.1707C>G (p.Pro569=) c.1683C>G (p.Pro561=) c.816C>G (p.Pro272=) c.729C>G (p.Pro243=) c.642C>G (p.Pro214=) n.591-49C>G | gnomAD v4 |
17 | g.45996460C>T | CA8618034 | MAPT | c.531C>T (p.Pro177=) c.444C>T (p.Pro148=) c.618C>T (p.Pro206=) n.482C>T c.1794C>T (p.Pro598=) c.1596C>T (p.Pro532=) c.1569C>T (p.Pro523=) c.1623C>T (p.Pro541=) n.572C>T n.5903C>T c.1881C>T (p.Pro627=) c.1707C>T (p.Pro569=) c.1683C>T (p.Pro561=) c.816C>T (p.Pro272=) c.729C>T (p.Pro243=) c.642C>T (p.Pro214=) n.591-49C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996461G>A | CA8618035 | MAPT | c.532G>A (p.Gly178Ser) c.445G>A (p.Gly149Ser) c.619G>A (p.Gly207Ser) n.483G>A c.1795G>A (p.Gly599Ser) c.1597G>A (p.Gly533Ser) c.1570G>A (p.Gly524Ser) c.1624G>A (p.Gly542Ser) n.573G>A n.5904G>A c.1882G>A (p.Gly628Ser) c.1708G>A (p.Gly570Ser) c.1684G>A (p.Gly562Ser) c.817G>A (p.Gly273Ser) c.730G>A (p.Gly244Ser) c.643G>A (p.Gly215Ser) n.591-48G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996461G>C | CA399978061 | MAPT | c.532G>C (p.Gly178Arg) c.445G>C (p.Gly149Arg) c.619G>C (p.Gly207Arg) n.483G>C c.1795G>C (p.Gly599Arg) c.1597G>C (p.Gly533Arg) c.1570G>C (p.Gly524Arg) c.1624G>C (p.Gly542Arg) n.573G>C n.5904G>C c.1882G>C (p.Gly628Arg) c.1708G>C (p.Gly570Arg) c.1684G>C (p.Gly562Arg) c.817G>C (p.Gly273Arg) c.730G>C (p.Gly244Arg) c.643G>C (p.Gly215Arg) n.591-48G>C | |
17 | g.45996461G= | CA2262094979 | MAPT | c.532G= (p.Gly178=) c.445G= (p.Gly149=) c.619G= (p.Gly207=) n.483G= c.1795G= (p.Gly599=) c.1597G= (p.Gly533=) c.1570G= (p.Gly524=) c.1624G= (p.Gly542=) n.573G= n.5904G= c.1882G= (p.Gly628=) c.1708G= (p.Gly570=) c.1684G= (p.Gly562=) c.817G= (p.Gly273=) c.730G= (p.Gly244=) c.643G= (p.Gly215=) n.591-48G= | |
17 | g.45996461G>T | CA399978062 | MAPT | c.532G>T (p.Gly178Cys) c.445G>T (p.Gly149Cys) c.619G>T (p.Gly207Cys) n.483G>T c.1795G>T (p.Gly599Cys) c.1597G>T (p.Gly533Cys) c.1570G>T (p.Gly524Cys) c.1624G>T (p.Gly542Cys) n.573G>T n.5904G>T c.1882G>T (p.Gly628Cys) c.1708G>T (p.Gly570Cys) c.1684G>T (p.Gly562Cys) c.817G>T (p.Gly273Cys) c.730G>T (p.Gly244Cys) c.643G>T (p.Gly215Cys) n.591-48G>T | |
17 | g.45996462G>A | CA399978063 | MAPT | c.533G>A (p.Gly178Asp) c.446G>A (p.Gly149Asp) c.620G>A (p.Gly207Asp) n.484G>A c.1796G>A (p.Gly599Asp) c.1598G>A (p.Gly533Asp) c.1571G>A (p.Gly524Asp) c.1625G>A (p.Gly542Asp) n.574G>A n.5905G>A c.1883G>A (p.Gly628Asp) c.1709G>A (p.Gly570Asp) c.1685G>A (p.Gly562Asp) c.818G>A (p.Gly273Asp) c.731G>A (p.Gly244Asp) c.644G>A (p.Gly215Asp) n.591-47G>A | |
17 | g.45996462G>C | CA399978064 | MAPT | c.533G>C (p.Gly178Ala) c.446G>C (p.Gly149Ala) c.620G>C (p.Gly207Ala) n.484G>C c.1796G>C (p.Gly599Ala) c.1598G>C (p.Gly533Ala) c.1571G>C (p.Gly524Ala) c.1625G>C (p.Gly542Ala) n.574G>C n.5905G>C c.1883G>C (p.Gly628Ala) c.1709G>C (p.Gly570Ala) c.1685G>C (p.Gly562Ala) c.818G>C (p.Gly273Ala) c.731G>C (p.Gly244Ala) c.644G>C (p.Gly215Ala) n.591-47G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996462G= | CA2262094980 | MAPT | c.533G= (p.Gly178=) c.446G= (p.Gly149=) c.620G= (p.Gly207=) n.484G= c.1796G= (p.Gly599=) c.1598G= (p.Gly533=) c.1571G= (p.Gly524=) c.1625G= (p.Gly542=) n.574G= n.5905G= c.1883G= (p.Gly628=) c.1709G= (p.Gly570=) c.1685G= (p.Gly562=) c.818G= (p.Gly273=) c.731G= (p.Gly244=) c.644G= (p.Gly215=) n.591-47G= | |
17 | g.45996462G>T | CA399978065 | MAPT | c.533G>T (p.Gly178Val) c.446G>T (p.Gly149Val) c.620G>T (p.Gly207Val) n.484G>T c.1796G>T (p.Gly599Val) c.1598G>T (p.Gly533Val) c.1571G>T (p.Gly524Val) c.1625G>T (p.Gly542Val) n.574G>T n.5905G>T c.1883G>T (p.Gly628Val) c.1709G>T (p.Gly570Val) c.1685G>T (p.Gly562Val) c.818G>T (p.Gly273Val) c.731G>T (p.Gly244Val) c.644G>T (p.Gly215Val) n.591-47G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996463C>A | CA500643935 | MAPT | c.534C>A (p.Gly178=) c.447C>A (p.Gly149=) c.621C>A (p.Gly207=) n.485C>A c.1797C>A (p.Gly599=) c.1599C>A (p.Gly533=) c.1572C>A (p.Gly524=) c.1626C>A (p.Gly542=) n.575C>A n.5906C>A c.1884C>A (p.Gly628=) c.1710C>A (p.Gly570=) c.1686C>A (p.Gly562=) c.819C>A (p.Gly273=) c.732C>A (p.Gly244=) c.645C>A (p.Gly215=) n.591-46C>A | |
17 | g.45996463C>G | CA500643936 | MAPT | c.534C>G (p.Gly178=) c.447C>G (p.Gly149=) c.621C>G (p.Gly207=) n.485C>G c.1797C>G (p.Gly599=) c.1599C>G (p.Gly533=) c.1572C>G (p.Gly524=) c.1626C>G (p.Gly542=) n.575C>G n.5906C>G c.1884C>G (p.Gly628=) c.1710C>G (p.Gly570=) c.1686C>G (p.Gly562=) c.819C>G (p.Gly273=) c.732C>G (p.Gly244=) c.645C>G (p.Gly215=) n.591-46C>G | |
17 | g.45996463C>T | CA500643937 | MAPT | c.534C>T (p.Gly178=) c.447C>T (p.Gly149=) c.621C>T (p.Gly207=) n.485C>T c.1797C>T (p.Gly599=) c.1599C>T (p.Gly533=) c.1572C>T (p.Gly524=) c.1626C>T (p.Gly542=) n.575C>T n.5906C>T c.1884C>T (p.Gly628=) c.1710C>T (p.Gly570=) c.1686C>T (p.Gly562=) c.819C>T (p.Gly273=) c.732C>T (p.Gly244=) c.645C>T (p.Gly215=) n.591-46C>T | |
17 | g.45996464A= | CA2262094981 | MAPT | c.535A= (p.Ser179=) c.448A= (p.Ser150=) c.622A= (p.Ser208=) n.486A= c.1798A= (p.Ser600=) c.1600A= (p.Ser534=) c.1573A= (p.Ser525=) c.1627A= (p.Ser543=) n.576A= n.5907A= c.1885A= (p.Ser629=) c.1711A= (p.Ser571=) c.1687A= (p.Ser563=) c.820A= (p.Ser274=) c.733A= (p.Ser245=) c.646A= (p.Ser216=) n.591-45A= | |
17 | g.45996464A>C | CA399978066 | MAPT | c.535A>C (p.Ser179Arg) c.448A>C (p.Ser150Arg) c.622A>C (p.Ser208Arg) n.486A>C c.1798A>C (p.Ser600Arg) c.1600A>C (p.Ser534Arg) c.1573A>C (p.Ser525Arg) c.1627A>C (p.Ser543Arg) n.576A>C n.5907A>C c.1885A>C (p.Ser629Arg) c.1711A>C (p.Ser571Arg) c.1687A>C (p.Ser563Arg) c.820A>C (p.Ser274Arg) c.733A>C (p.Ser245Arg) c.646A>C (p.Ser216Arg) n.591-45A>C | |
17 | g.45996464A>G | CA399978067 | MAPT | c.535A>G (p.Ser179Gly) c.448A>G (p.Ser150Gly) c.622A>G (p.Ser208Gly) n.486A>G c.1798A>G (p.Ser600Gly) c.1600A>G (p.Ser534Gly) c.1573A>G (p.Ser525Gly) c.1627A>G (p.Ser543Gly) n.576A>G n.5907A>G c.1885A>G (p.Ser629Gly) c.1711A>G (p.Ser571Gly) c.1687A>G (p.Ser563Gly) c.820A>G (p.Ser274Gly) c.733A>G (p.Ser245Gly) c.646A>G (p.Ser216Gly) n.591-45A>G | |
17 | g.45996464A>T | CA399978068 | MAPT | c.535A>T (p.Ser179Cys) c.448A>T (p.Ser150Cys) c.622A>T (p.Ser208Cys) n.486A>T c.1798A>T (p.Ser600Cys) c.1600A>T (p.Ser534Cys) c.1573A>T (p.Ser525Cys) c.1627A>T (p.Ser543Cys) n.576A>T n.5907A>T c.1885A>T (p.Ser629Cys) c.1711A>T (p.Ser571Cys) c.1687A>T (p.Ser563Cys) c.820A>T (p.Ser274Cys) c.733A>T (p.Ser245Cys) c.646A>T (p.Ser216Cys) n.591-45A>T | dbSNP |
17 | g.45996465G>A | CA399978071 | MAPT | c.536G>A (p.Ser179Asn) c.449G>A (p.Ser150Asn) c.623G>A (p.Ser208Asn) n.487G>A c.1799G>A (p.Ser600Asn) c.1601G>A (p.Ser534Asn) c.1574G>A (p.Ser525Asn) c.1628G>A (p.Ser543Asn) n.577G>A n.5908G>A c.1886G>A (p.Ser629Asn) c.1712G>A (p.Ser571Asn) c.1688G>A (p.Ser563Asn) c.821G>A (p.Ser274Asn) c.734G>A (p.Ser245Asn) c.647G>A (p.Ser216Asn) n.591-44G>A | |
17 | g.45996465G>C | CA399978069 | MAPT | c.536G>C (p.Ser179Thr) c.449G>C (p.Ser150Thr) c.623G>C (p.Ser208Thr) n.487G>C c.1799G>C (p.Ser600Thr) c.1601G>C (p.Ser534Thr) c.1574G>C (p.Ser525Thr) c.1628G>C (p.Ser543Thr) n.577G>C n.5908G>C c.1886G>C (p.Ser629Thr) c.1712G>C (p.Ser571Thr) c.1688G>C (p.Ser563Thr) c.821G>C (p.Ser274Thr) c.734G>C (p.Ser245Thr) c.647G>C (p.Ser216Thr) n.591-44G>C | |
17 | g.45996465G>T | CA399978070 | MAPT | c.536G>T (p.Ser179Ile) c.449G>T (p.Ser150Ile) c.623G>T (p.Ser208Ile) n.487G>T c.1799G>T (p.Ser600Ile) c.1601G>T (p.Ser534Ile) c.1574G>T (p.Ser525Ile) c.1628G>T (p.Ser543Ile) n.577G>T n.5908G>T c.1886G>T (p.Ser629Ile) c.1712G>T (p.Ser571Ile) c.1688G>T (p.Ser563Ile) c.821G>T (p.Ser274Ile) c.734G>T (p.Ser245Ile) c.647G>T (p.Ser216Ile) n.591-44G>T | |
17 | g.45996466C>A | CA399978072 | MAPT | c.537C>A (p.Ser179Arg) c.450C>A (p.Ser150Arg) c.624C>A (p.Ser208Arg) n.488C>A c.1800C>A (p.Ser600Arg) c.1602C>A (p.Ser534Arg) c.1575C>A (p.Ser525Arg) c.1629C>A (p.Ser543Arg) n.578C>A n.5909C>A c.1887C>A (p.Ser629Arg) c.1713C>A (p.Ser571Arg) c.1689C>A (p.Ser563Arg) c.822C>A (p.Ser274Arg) c.735C>A (p.Ser245Arg) c.648C>A (p.Ser216Arg) n.591-43C>A | |
17 | g.45996466C>G | CA399978073 | MAPT | c.537C>G (p.Ser179Arg) c.450C>G (p.Ser150Arg) c.624C>G (p.Ser208Arg) n.488C>G c.1800C>G (p.Ser600Arg) c.1602C>G (p.Ser534Arg) c.1575C>G (p.Ser525Arg) c.1629C>G (p.Ser543Arg) n.578C>G n.5909C>G c.1887C>G (p.Ser629Arg) c.1713C>G (p.Ser571Arg) c.1689C>G (p.Ser563Arg) c.822C>G (p.Ser274Arg) c.735C>G (p.Ser245Arg) c.648C>G (p.Ser216Arg) n.591-43C>G | |
17 | g.45996466C>T | CA500643938 | MAPT | c.537C>T (p.Ser179=) c.450C>T (p.Ser150=) c.624C>T (p.Ser208=) n.488C>T c.1800C>T (p.Ser600=) c.1602C>T (p.Ser534=) c.1575C>T (p.Ser525=) c.1629C>T (p.Ser543=) n.578C>T n.5909C>T c.1887C>T (p.Ser629=) c.1713C>T (p.Ser571=) c.1689C>T (p.Ser563=) c.822C>T (p.Ser274=) c.735C>T (p.Ser245=) c.648C>T (p.Ser216=) n.591-43C>T | |
17 | g.45996467C>A | CA399978074 | MAPT | c.538C>A (p.Arg180Ser) c.451C>A (p.Arg151Ser) c.625C>A (p.Arg209Ser) n.489C>A c.1801C>A (p.Arg601Ser) c.1603C>A (p.Arg535Ser) c.1576C>A (p.Arg526Ser) c.1630C>A (p.Arg544Ser) n.579C>A n.5910C>A c.1888C>A (p.Arg630Ser) c.1714C>A (p.Arg572Ser) c.1690C>A (p.Arg564Ser) c.823C>A (p.Arg275Ser) c.736C>A (p.Arg246Ser) c.649C>A (p.Arg217Ser) n.591-42C>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996467C= | CA2262094982 | MAPT | c.538C= (p.Arg180=) c.451C= (p.Arg151=) c.625C= (p.Arg209=) n.489C= c.1801C= (p.Arg601=) c.1603C= (p.Arg535=) c.1576C= (p.Arg526=) c.1630C= (p.Arg544=) n.579C= n.5910C= c.1888C= (p.Arg630=) c.1714C= (p.Arg572=) c.1690C= (p.Arg564=) c.823C= (p.Arg275=) c.736C= (p.Arg246=) c.649C= (p.Arg217=) n.591-42C= | |
17 | g.45996467C>G | CA399978075 | MAPT | c.538C>G (p.Arg180Gly) c.451C>G (p.Arg151Gly) c.625C>G (p.Arg209Gly) n.489C>G c.1801C>G (p.Arg601Gly) c.1603C>G (p.Arg535Gly) c.1576C>G (p.Arg526Gly) c.1630C>G (p.Arg544Gly) n.579C>G n.5910C>G c.1888C>G (p.Arg630Gly) c.1714C>G (p.Arg572Gly) c.1690C>G (p.Arg564Gly) c.823C>G (p.Arg275Gly) c.736C>G (p.Arg246Gly) c.649C>G (p.Arg217Gly) n.591-42C>G | |
17 | g.45996467C>T | CA8618036 | MAPT | c.538C>T (p.Arg180Cys) c.451C>T (p.Arg151Cys) c.625C>T (p.Arg209Cys) n.489C>T c.1801C>T (p.Arg601Cys) c.1603C>T (p.Arg535Cys) c.1576C>T (p.Arg526Cys) c.1630C>T (p.Arg544Cys) n.579C>T n.5910C>T c.1888C>T (p.Arg630Cys) c.1714C>T (p.Arg572Cys) c.1690C>T (p.Arg564Cys) c.823C>T (p.Arg275Cys) c.736C>T (p.Arg246Cys) c.649C>T (p.Arg217Cys) n.591-42C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996468G>A | CA8618037 | MAPT | c.539G>A (p.Arg180His) c.452G>A (p.Arg151His) c.626G>A (p.Arg209His) n.490G>A c.1802G>A (p.Arg601His) c.1604G>A (p.Arg535His) c.1577G>A (p.Arg526His) c.1631G>A (p.Arg544His) n.580G>A n.5911G>A c.1889G>A (p.Arg630His) c.1715G>A (p.Arg572His) c.1691G>A (p.Arg564His) c.824G>A (p.Arg275His) c.737G>A (p.Arg246His) c.650G>A (p.Arg217His) n.591-41G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996468G>C | CA399978076 | MAPT | c.539G>C (p.Arg180Pro) c.452G>C (p.Arg151Pro) c.626G>C (p.Arg209Pro) n.490G>C c.1802G>C (p.Arg601Pro) c.1604G>C (p.Arg535Pro) c.1577G>C (p.Arg526Pro) c.1631G>C (p.Arg544Pro) n.580G>C n.5911G>C c.1889G>C (p.Arg630Pro) c.1715G>C (p.Arg572Pro) c.1691G>C (p.Arg564Pro) c.824G>C (p.Arg275Pro) c.737G>C (p.Arg246Pro) c.650G>C (p.Arg217Pro) n.591-41G>C | |
17 | g.45996468G= | CA2262094983 | MAPT | c.539G= (p.Arg180=) c.452G= (p.Arg151=) c.626G= (p.Arg209=) n.490G= c.1802G= (p.Arg601=) c.1604G= (p.Arg535=) c.1577G= (p.Arg526=) c.1631G= (p.Arg544=) n.580G= n.5911G= c.1889G= (p.Arg630=) c.1715G= (p.Arg572=) c.1691G= (p.Arg564=) c.824G= (p.Arg275=) c.737G= (p.Arg246=) c.650G= (p.Arg217=) n.591-41G= | |
17 | g.45996468G>T | CA399978077 | MAPT | c.539G>T (p.Arg180Leu) c.452G>T (p.Arg151Leu) c.626G>T (p.Arg209Leu) n.490G>T c.1802G>T (p.Arg601Leu) c.1604G>T (p.Arg535Leu) c.1577G>T (p.Arg526Leu) c.1631G>T (p.Arg544Leu) n.580G>T n.5911G>T c.1889G>T (p.Arg630Leu) c.1715G>T (p.Arg572Leu) c.1691G>T (p.Arg564Leu) c.824G>T (p.Arg275Leu) c.737G>T (p.Arg246Leu) c.650G>T (p.Arg217Leu) n.591-41G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996469C>A | CA500643941 | MAPT | c.540C>A (p.Arg180=) c.453C>A (p.Arg151=) c.627C>A (p.Arg209=) n.491C>A c.1803C>A (p.Arg601=) c.1605C>A (p.Arg535=) c.1578C>A (p.Arg526=) c.1632C>A (p.Arg544=) n.581C>A n.5912C>A c.1890C>A (p.Arg630=) c.1716C>A (p.Arg572=) c.1692C>A (p.Arg564=) c.825C>A (p.Arg275=) c.738C>A (p.Arg246=) c.651C>A (p.Arg217=) n.591-40C>A | |
17 | g.45996469C= | CA2262094984 | MAPT | c.540C= (p.Arg180=) c.453C= (p.Arg151=) c.627C= (p.Arg209=) n.491C= c.1803C= (p.Arg601=) c.1605C= (p.Arg535=) c.1578C= (p.Arg526=) c.1632C= (p.Arg544=) n.581C= n.5912C= c.1890C= (p.Arg630=) c.1716C= (p.Arg572=) c.1692C= (p.Arg564=) c.825C= (p.Arg275=) c.738C= (p.Arg246=) c.651C= (p.Arg217=) n.591-40C= | |
17 | g.45996469C>G | CA500643940 | MAPT | c.540C>G (p.Arg180=) c.453C>G (p.Arg151=) c.627C>G (p.Arg209=) n.491C>G c.1803C>G (p.Arg601=) c.1605C>G (p.Arg535=) c.1578C>G (p.Arg526=) c.1632C>G (p.Arg544=) n.581C>G n.5912C>G c.1890C>G (p.Arg630=) c.1716C>G (p.Arg572=) c.1692C>G (p.Arg564=) c.825C>G (p.Arg275=) c.738C>G (p.Arg246=) c.651C>G (p.Arg217=) n.591-40C>G | |
17 | g.45996469C>T | CA500643939 | MAPT | c.540C>T (p.Arg180=) c.453C>T (p.Arg151=) c.627C>T (p.Arg209=) n.491C>T c.1803C>T (p.Arg601=) c.1605C>T (p.Arg535=) c.1578C>T (p.Arg526=) c.1632C>T (p.Arg544=) n.581C>T n.5912C>T c.1890C>T (p.Arg630=) c.1716C>T (p.Arg572=) c.1692C>T (p.Arg564=) c.825C>T (p.Arg275=) c.738C>T (p.Arg246=) c.651C>T (p.Arg217=) n.591-40C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996470T>A | CA399978078 | MAPT | c.541T>A (p.Ser181Thr) c.454T>A (p.Ser152Thr) c.628T>A (p.Ser210Thr) n.492T>A c.1804T>A (p.Ser602Thr) c.1606T>A (p.Ser536Thr) c.1579T>A (p.Ser527Thr) c.1633T>A (p.Ser545Thr) n.582T>A n.5913T>A c.1891T>A (p.Ser631Thr) c.1717T>A (p.Ser573Thr) c.1693T>A (p.Ser565Thr) c.826T>A (p.Ser276Thr) c.739T>A (p.Ser247Thr) c.652T>A (p.Ser218Thr) n.591-39T>A | |
17 | g.45996470T>C | CA399978079 | MAPT | c.541T>C (p.Ser181Pro) c.454T>C (p.Ser152Pro) c.628T>C (p.Ser210Pro) n.492T>C c.1804T>C (p.Ser602Pro) c.1606T>C (p.Ser536Pro) c.1579T>C (p.Ser527Pro) c.1633T>C (p.Ser545Pro) n.582T>C n.5913T>C c.1891T>C (p.Ser631Pro) c.1717T>C (p.Ser573Pro) c.1693T>C (p.Ser565Pro) c.826T>C (p.Ser276Pro) c.739T>C (p.Ser247Pro) c.652T>C (p.Ser218Pro) n.591-39T>C | |
17 | g.45996470T>G | CA399978080 | MAPT | c.541T>G (p.Ser181Ala) c.454T>G (p.Ser152Ala) c.628T>G (p.Ser210Ala) n.492T>G c.1804T>G (p.Ser602Ala) c.1606T>G (p.Ser536Ala) c.1579T>G (p.Ser527Ala) c.1633T>G (p.Ser545Ala) n.582T>G n.5913T>G c.1891T>G (p.Ser631Ala) c.1717T>G (p.Ser573Ala) c.1693T>G (p.Ser565Ala) c.826T>G (p.Ser276Ala) c.739T>G (p.Ser247Ala) c.652T>G (p.Ser218Ala) n.591-39T>G | |
17 | g.45996471C>A | CA399978083 | MAPT | c.542C>A (p.Ser181Tyr) c.455C>A (p.Ser152Tyr) c.629C>A (p.Ser210Tyr) n.493C>A c.1805C>A (p.Ser602Tyr) c.1607C>A (p.Ser536Tyr) c.1580C>A (p.Ser527Tyr) c.1634C>A (p.Ser545Tyr) n.583C>A n.5914C>A c.1892C>A (p.Ser631Tyr) c.1718C>A (p.Ser573Tyr) c.1694C>A (p.Ser565Tyr) c.827C>A (p.Ser276Tyr) c.740C>A (p.Ser247Tyr) c.653C>A (p.Ser218Tyr) n.591-38C>A | |
17 | g.45996471C>G | CA399978082 | MAPT | c.542C>G (p.Ser181Cys) c.455C>G (p.Ser152Cys) c.629C>G (p.Ser210Cys) n.493C>G c.1805C>G (p.Ser602Cys) c.1607C>G (p.Ser536Cys) c.1580C>G (p.Ser527Cys) c.1634C>G (p.Ser545Cys) n.583C>G n.5914C>G c.1892C>G (p.Ser631Cys) c.1718C>G (p.Ser573Cys) c.1694C>G (p.Ser565Cys) c.827C>G (p.Ser276Cys) c.740C>G (p.Ser247Cys) c.653C>G (p.Ser218Cys) n.591-38C>G | |
17 | g.45996471C>T | CA399978081 | MAPT | c.542C>T (p.Ser181Phe) c.455C>T (p.Ser152Phe) c.629C>T (p.Ser210Phe) n.493C>T c.1805C>T (p.Ser602Phe) c.1607C>T (p.Ser536Phe) c.1580C>T (p.Ser527Phe) c.1634C>T (p.Ser545Phe) n.583C>T n.5914C>T c.1892C>T (p.Ser631Phe) c.1718C>T (p.Ser573Phe) c.1694C>T (p.Ser565Phe) c.827C>T (p.Ser276Phe) c.740C>T (p.Ser247Phe) c.653C>T (p.Ser218Phe) n.591-38C>T | |
17 | g.45996472C>A | CA500643944 | MAPT | c.543C>A (p.Ser181=) c.456C>A (p.Ser152=) c.630C>A (p.Ser210=) n.494C>A c.1806C>A (p.Ser602=) c.1608C>A (p.Ser536=) c.1581C>A (p.Ser527=) c.1635C>A (p.Ser545=) n.584C>A n.5915C>A c.1893C>A (p.Ser631=) c.1719C>A (p.Ser573=) c.1695C>A (p.Ser565=) c.828C>A (p.Ser276=) c.741C>A (p.Ser247=) c.654C>A (p.Ser218=) n.591-37C>A | |
17 | g.45996472C>G | CA500643943 | MAPT | c.543C>G (p.Ser181=) c.456C>G (p.Ser152=) c.630C>G (p.Ser210=) n.494C>G c.1806C>G (p.Ser602=) c.1608C>G (p.Ser536=) c.1581C>G (p.Ser527=) c.1635C>G (p.Ser545=) n.584C>G n.5915C>G c.1893C>G (p.Ser631=) c.1719C>G (p.Ser573=) c.1695C>G (p.Ser565=) c.828C>G (p.Ser276=) c.741C>G (p.Ser247=) c.654C>G (p.Ser218=) n.591-37C>G | |
17 | g.45996472C>T | CA500643942 | MAPT | c.543C>T (p.Ser181=) c.456C>T (p.Ser152=) c.630C>T (p.Ser210=) n.494C>T c.1806C>T (p.Ser602=) c.1608C>T (p.Ser536=) c.1581C>T (p.Ser527=) c.1635C>T (p.Ser545=) n.584C>T n.5915C>T c.1893C>T (p.Ser631=) c.1719C>T (p.Ser573=) c.1695C>T (p.Ser565=) c.828C>T (p.Ser276=) c.741C>T (p.Ser247=) c.654C>T (p.Ser218=) n.591-37C>T | |
17 | g.45996473C>A | CA291107183 | MAPT | c.544C>A (p.Arg182Ser) c.457C>A (p.Arg153Ser) c.631C>A (p.Arg211Ser) n.495C>A c.1807C>A (p.Arg603Ser) c.1609C>A (p.Arg537Ser) c.1582C>A (p.Arg528Ser) c.1636C>A (p.Arg546Ser) n.585C>A n.5916C>A c.1894C>A (p.Arg632Ser) c.1720C>A (p.Arg574Ser) c.1696C>A (p.Arg566Ser) c.829C>A (p.Arg277Ser) c.742C>A (p.Arg248Ser) c.655C>A (p.Arg219Ser) n.591-36C>A | dbSNP |
17 | g.45996473C= | CA2262094985 | MAPT | c.544C= (p.Arg182=) c.457C= (p.Arg153=) c.631C= (p.Arg211=) n.495C= c.1807C= (p.Arg603=) c.1609C= (p.Arg537=) c.1582C= (p.Arg528=) c.1636C= (p.Arg546=) n.585C= n.5916C= c.1894C= (p.Arg632=) c.1720C= (p.Arg574=) c.1696C= (p.Arg566=) c.829C= (p.Arg277=) c.742C= (p.Arg248=) c.655C= (p.Arg219=) n.591-36C= | |
17 | g.45996473C>G | CA399978084 | MAPT | c.544C>G (p.Arg182Gly) c.457C>G (p.Arg153Gly) c.631C>G (p.Arg211Gly) n.495C>G c.1807C>G (p.Arg603Gly) c.1609C>G (p.Arg537Gly) c.1582C>G (p.Arg528Gly) c.1636C>G (p.Arg546Gly) n.585C>G n.5916C>G c.1894C>G (p.Arg632Gly) c.1720C>G (p.Arg574Gly) c.1696C>G (p.Arg566Gly) c.829C>G (p.Arg277Gly) c.742C>G (p.Arg248Gly) c.655C>G (p.Arg219Gly) n.591-36C>G | |
17 | g.45996473C>T | CA8618038 | MAPT | c.544C>T (p.Arg182Cys) c.457C>T (p.Arg153Cys) c.631C>T (p.Arg211Cys) n.495C>T c.1807C>T (p.Arg603Cys) c.1609C>T (p.Arg537Cys) c.1582C>T (p.Arg528Cys) c.1636C>T (p.Arg546Cys) n.585C>T n.5916C>T c.1894C>T (p.Arg632Cys) c.1720C>T (p.Arg574Cys) c.1696C>T (p.Arg566Cys) c.829C>T (p.Arg277Cys) c.742C>T (p.Arg248Cys) c.655C>T (p.Arg219Cys) n.591-36C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996474G>A | CA8618039 | MAPT | c.545G>A (p.Arg182His) c.458G>A (p.Arg153His) c.632G>A (p.Arg211His) n.496G>A c.1808G>A (p.Arg603His) c.1610G>A (p.Arg537His) c.1583G>A (p.Arg528His) c.1637G>A (p.Arg546His) n.586G>A n.5917G>A c.1895G>A (p.Arg632His) c.1721G>A (p.Arg574His) c.1697G>A (p.Arg566His) c.830G>A (p.Arg277His) c.743G>A (p.Arg248His) c.656G>A (p.Arg219His) n.591-35G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996474G>C | CA399978085 | MAPT | c.545G>C (p.Arg182Pro) c.458G>C (p.Arg153Pro) c.632G>C (p.Arg211Pro) n.496G>C c.1808G>C (p.Arg603Pro) c.1610G>C (p.Arg537Pro) c.1583G>C (p.Arg528Pro) c.1637G>C (p.Arg546Pro) n.586G>C n.5917G>C c.1895G>C (p.Arg632Pro) c.1721G>C (p.Arg574Pro) c.1697G>C (p.Arg566Pro) c.830G>C (p.Arg277Pro) c.743G>C (p.Arg248Pro) c.656G>C (p.Arg219Pro) n.591-35G>C | |
17 | g.45996474G= | CA2262094986 | MAPT | c.545G= (p.Arg182=) c.458G= (p.Arg153=) c.632G= (p.Arg211=) n.496G= c.1808G= (p.Arg603=) c.1610G= (p.Arg537=) c.1583G= (p.Arg528=) c.1637G= (p.Arg546=) n.586G= n.5917G= c.1895G= (p.Arg632=) c.1721G= (p.Arg574=) c.1697G= (p.Arg566=) c.830G= (p.Arg277=) c.743G= (p.Arg248=) c.656G= (p.Arg219=) n.591-35G= | |
17 | g.45996474G>T | CA399978086 | MAPT | c.545G>T (p.Arg182Leu) c.458G>T (p.Arg153Leu) c.632G>T (p.Arg211Leu) n.496G>T c.1808G>T (p.Arg603Leu) c.1610G>T (p.Arg537Leu) c.1583G>T (p.Arg528Leu) c.1637G>T (p.Arg546Leu) n.586G>T n.5917G>T c.1895G>T (p.Arg632Leu) c.1721G>T (p.Arg574Leu) c.1697G>T (p.Arg566Leu) c.830G>T (p.Arg277Leu) c.743G>T (p.Arg248Leu) c.656G>T (p.Arg219Leu) n.591-35G>T | |
17 | g.45996475C>A | CA500643947 | MAPT | c.546C>A (p.Arg182=) c.459C>A (p.Arg153=) c.633C>A (p.Arg211=) n.497C>A c.1809C>A (p.Arg603=) c.1611C>A (p.Arg537=) c.1584C>A (p.Arg528=) c.1638C>A (p.Arg546=) n.587C>A n.5918C>A c.1896C>A (p.Arg632=) c.1722C>A (p.Arg574=) c.1698C>A (p.Arg566=) c.831C>A (p.Arg277=) c.744C>A (p.Arg248=) c.657C>A (p.Arg219=) n.591-34C>A | dbSNP |
17 | g.45996475C= | CA2262094987 | MAPT | c.546C= (p.Arg182=) c.459C= (p.Arg153=) c.633C= (p.Arg211=) n.497C= c.1809C= (p.Arg603=) c.1611C= (p.Arg537=) c.1584C= (p.Arg528=) c.1638C= (p.Arg546=) n.587C= n.5918C= c.1896C= (p.Arg632=) c.1722C= (p.Arg574=) c.1698C= (p.Arg566=) c.831C= (p.Arg277=) c.744C= (p.Arg248=) c.657C= (p.Arg219=) n.591-34C= | |
17 | g.45996475C>G | CA500643945 | MAPT | c.546C>G (p.Arg182=) c.459C>G (p.Arg153=) c.633C>G (p.Arg211=) n.497C>G c.1809C>G (p.Arg603=) c.1611C>G (p.Arg537=) c.1584C>G (p.Arg528=) c.1638C>G (p.Arg546=) n.587C>G n.5918C>G c.1896C>G (p.Arg632=) c.1722C>G (p.Arg574=) c.1698C>G (p.Arg566=) c.831C>G (p.Arg277=) c.744C>G (p.Arg248=) c.657C>G (p.Arg219=) n.591-34C>G | |
17 | g.45996475C>T | CA500643946 | MAPT | c.546C>T (p.Arg182=) c.459C>T (p.Arg153=) c.633C>T (p.Arg211=) n.497C>T c.1809C>T (p.Arg603=) c.1611C>T (p.Arg537=) c.1584C>T (p.Arg528=) c.1638C>T (p.Arg546=) n.587C>T n.5918C>T c.1896C>T (p.Arg632=) c.1722C>T (p.Arg574=) c.1698C>T (p.Arg566=) c.831C>T (p.Arg277=) c.744C>T (p.Arg248=) c.657C>T (p.Arg219=) n.591-34C>T | gnomAD v4 |
17 | g.45996476A>C | CA399978087 | MAPT | c.547A>C (p.Thr183Pro) c.460A>C (p.Thr154Pro) c.634A>C (p.Thr212Pro) n.498A>C c.1810A>C (p.Thr604Pro) c.1612A>C (p.Thr538Pro) c.1585A>C (p.Thr529Pro) c.1639A>C (p.Thr547Pro) n.588A>C n.5919A>C c.1897A>C (p.Thr633Pro) c.1723A>C (p.Thr575Pro) c.1699A>C (p.Thr567Pro) c.832A>C (p.Thr278Pro) c.745A>C (p.Thr249Pro) c.658A>C (p.Thr220Pro) n.591-33A>C | |
17 | g.45996476A>G | CA399978088 | MAPT | c.547A>G (p.Thr183Ala) c.460A>G (p.Thr154Ala) c.634A>G (p.Thr212Ala) n.498A>G c.1810A>G (p.Thr604Ala) c.1612A>G (p.Thr538Ala) c.1585A>G (p.Thr529Ala) c.1639A>G (p.Thr547Ala) n.588A>G n.5919A>G c.1897A>G (p.Thr633Ala) c.1723A>G (p.Thr575Ala) c.1699A>G (p.Thr567Ala) c.832A>G (p.Thr278Ala) c.745A>G (p.Thr249Ala) c.658A>G (p.Thr220Ala) n.591-33A>G | |
17 | g.45996476A>T | CA399978089 | MAPT | c.547A>T (p.Thr183Ser) c.460A>T (p.Thr154Ser) c.634A>T (p.Thr212Ser) n.498A>T c.1810A>T (p.Thr604Ser) c.1612A>T (p.Thr538Ser) c.1585A>T (p.Thr529Ser) c.1639A>T (p.Thr547Ser) n.588A>T n.5919A>T c.1897A>T (p.Thr633Ser) c.1723A>T (p.Thr575Ser) c.1699A>T (p.Thr567Ser) c.832A>T (p.Thr278Ser) c.745A>T (p.Thr249Ser) c.658A>T (p.Thr220Ser) n.591-33A>T | |
17 | g.45996477C>A | CA8618040 | MAPT | c.548C>A (p.Thr183Asn) c.461C>A (p.Thr154Asn) c.635C>A (p.Thr212Asn) n.499C>A c.1811C>A (p.Thr604Asn) c.1613C>A (p.Thr538Asn) c.1586C>A (p.Thr529Asn) c.1640C>A (p.Thr547Asn) n.589C>A n.5920C>A c.1898C>A (p.Thr633Asn) c.1724C>A (p.Thr575Asn) c.1700C>A (p.Thr567Asn) c.833C>A (p.Thr278Asn) c.746C>A (p.Thr249Asn) c.659C>A (p.Thr220Asn) n.591-32C>A | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.45996477C= | CA2262094988 | MAPT | c.548C= (p.Thr183=) c.461C= (p.Thr154=) c.635C= (p.Thr212=) n.499C= c.1811C= (p.Thr604=) c.1613C= (p.Thr538=) c.1586C= (p.Thr529=) c.1640C= (p.Thr547=) n.589C= n.5920C= c.1898C= (p.Thr633=) c.1724C= (p.Thr575=) c.1700C= (p.Thr567=) c.833C= (p.Thr278=) c.746C= (p.Thr249=) c.659C= (p.Thr220=) n.591-32C= | |
17 | g.45996477C>G | CA399978090 | MAPT | c.548C>G (p.Thr183Ser) c.461C>G (p.Thr154Ser) c.635C>G (p.Thr212Ser) n.499C>G c.1811C>G (p.Thr604Ser) c.1613C>G (p.Thr538Ser) c.1586C>G (p.Thr529Ser) c.1640C>G (p.Thr547Ser) n.589C>G n.5920C>G c.1898C>G (p.Thr633Ser) c.1724C>G (p.Thr575Ser) c.1700C>G (p.Thr567Ser) c.833C>G (p.Thr278Ser) c.746C>G (p.Thr249Ser) c.659C>G (p.Thr220Ser) n.591-32C>G | gnomAD v4 |
17 | g.45996477C>T | CA399978091 | MAPT | c.548C>T (p.Thr183Ile) c.461C>T (p.Thr154Ile) c.635C>T (p.Thr212Ile) n.499C>T c.1811C>T (p.Thr604Ile) c.1613C>T (p.Thr538Ile) c.1586C>T (p.Thr529Ile) c.1640C>T (p.Thr547Ile) n.589C>T n.5920C>T c.1898C>T (p.Thr633Ile) c.1724C>T (p.Thr575Ile) c.1700C>T (p.Thr567Ile) c.833C>T (p.Thr278Ile) c.746C>T (p.Thr249Ile) c.659C>T (p.Thr220Ile) n.591-32C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996478C>A | CA500643950 | MAPT | c.549C>A (p.Thr183=) c.462C>A (p.Thr154=) c.636C>A (p.Thr212=) n.500C>A c.1812C>A (p.Thr604=) c.1614C>A (p.Thr538=) c.1587C>A (p.Thr529=) c.1641C>A (p.Thr547=) n.590C>A n.5921C>A c.1899C>A (p.Thr633=) c.1725C>A (p.Thr575=) c.1701C>A (p.Thr567=) c.834C>A (p.Thr278=) c.747C>A (p.Thr249=) c.660C>A (p.Thr220=) n.591-31C>A | |
17 | g.45996478C>G | CA500643949 | MAPT | c.549C>G (p.Thr183=) c.462C>G (p.Thr154=) c.636C>G (p.Thr212=) n.500C>G c.1812C>G (p.Thr604=) c.1614C>G (p.Thr538=) c.1587C>G (p.Thr529=) c.1641C>G (p.Thr547=) n.590C>G n.5921C>G c.1899C>G (p.Thr633=) c.1725C>G (p.Thr575=) c.1701C>G (p.Thr567=) c.834C>G (p.Thr278=) c.747C>G (p.Thr249=) c.660C>G (p.Thr220=) n.591-31C>G | |
17 | g.45996478C>T | CA500643948 | MAPT | c.549C>T (p.Thr183=) c.462C>T (p.Thr154=) c.636C>T (p.Thr212=) n.500C>T c.1812C>T (p.Thr604=) c.1614C>T (p.Thr538=) c.1587C>T (p.Thr529=) c.1641C>T (p.Thr547=) n.590C>T n.5921C>T c.1899C>T (p.Thr633=) c.1725C>T (p.Thr575=) c.1701C>T (p.Thr567=) c.834C>T (p.Thr278=) c.747C>T (p.Thr249=) c.660C>T (p.Thr220=) n.591-31C>T | |
17 | g.45996479C>A | CA399978092 | MAPT | c.550C>A (p.Pro184Thr) c.463C>A (p.Pro155Thr) c.637C>A (p.Pro213Thr) n.501C>A c.1813C>A (p.Pro605Thr) c.1615C>A (p.Pro539Thr) c.1588C>A (p.Pro530Thr) c.1642C>A (p.Pro548Thr) n.591C>A n.5922C>A c.1900C>A (p.Pro634Thr) c.1726C>A (p.Pro576Thr) c.1702C>A (p.Pro568Thr) c.835C>A (p.Pro279Thr) c.748C>A (p.Pro250Thr) c.661C>A (p.Pro221Thr) n.591-30C>A | |
17 | g.45996479C>G | CA399978093 | MAPT | c.550C>G (p.Pro184Ala) c.463C>G (p.Pro155Ala) c.637C>G (p.Pro213Ala) n.501C>G c.1813C>G (p.Pro605Ala) c.1615C>G (p.Pro539Ala) c.1588C>G (p.Pro530Ala) c.1642C>G (p.Pro548Ala) n.591C>G n.5922C>G c.1900C>G (p.Pro634Ala) c.1726C>G (p.Pro576Ala) c.1702C>G (p.Pro568Ala) c.835C>G (p.Pro279Ala) c.748C>G (p.Pro250Ala) c.661C>G (p.Pro221Ala) n.591-30C>G | |
17 | g.45996479C>T | CA399978094 | MAPT | c.550C>T (p.Pro184Ser) c.463C>T (p.Pro155Ser) c.637C>T (p.Pro213Ser) n.501C>T c.1813C>T (p.Pro605Ser) c.1615C>T (p.Pro539Ser) c.1588C>T (p.Pro530Ser) c.1642C>T (p.Pro548Ser) n.591C>T n.5922C>T c.1900C>T (p.Pro634Ser) c.1726C>T (p.Pro576Ser) c.1702C>T (p.Pro568Ser) c.835C>T (p.Pro279Ser) c.748C>T (p.Pro250Ser) c.661C>T (p.Pro221Ser) n.591-30C>T | gnomAD v4 COSMIC COSMIC |
17 | g.45996480C>A | CA399978095 | MAPT | c.551C>A (p.Pro184Gln) c.464C>A (p.Pro155Gln) c.638C>A (p.Pro213Gln) n.502C>A c.1814C>A (p.Pro605Gln) c.1616C>A (p.Pro539Gln) c.1589C>A (p.Pro530Gln) c.1643C>A (p.Pro548Gln) n.592C>A n.5923C>A c.1901C>A (p.Pro634Gln) c.1727C>A (p.Pro576Gln) c.1703C>A (p.Pro568Gln) c.836C>A (p.Pro279Gln) c.749C>A (p.Pro250Gln) c.662C>A (p.Pro221Gln) n.591-29C>A | |
17 | g.45996480C= | CA2262094989 | MAPT | c.551C= (p.Pro184=) c.464C= (p.Pro155=) c.638C= (p.Pro213=) n.502C= c.1814C= (p.Pro605=) c.1616C= (p.Pro539=) c.1589C= (p.Pro530=) c.1643C= (p.Pro548=) n.592C= n.5923C= c.1901C= (p.Pro634=) c.1727C= (p.Pro576=) c.1703C= (p.Pro568=) c.836C= (p.Pro279=) c.749C= (p.Pro250=) c.662C= (p.Pro221=) n.591-29C= | |
17 | g.45996480C>G | CA399978097 | MAPT | c.551C>G (p.Pro184Arg) c.464C>G (p.Pro155Arg) c.638C>G (p.Pro213Arg) n.502C>G c.1814C>G (p.Pro605Arg) c.1616C>G (p.Pro539Arg) c.1589C>G (p.Pro530Arg) c.1643C>G (p.Pro548Arg) n.592C>G n.5923C>G c.1901C>G (p.Pro634Arg) c.1727C>G (p.Pro576Arg) c.1703C>G (p.Pro568Arg) c.836C>G (p.Pro279Arg) c.749C>G (p.Pro250Arg) c.662C>G (p.Pro221Arg) n.591-29C>G | |
17 | g.45996480C>T | CA399978096 | MAPT | c.551C>T (p.Pro184Leu) c.464C>T (p.Pro155Leu) c.638C>T (p.Pro213Leu) n.502C>T c.1814C>T (p.Pro605Leu) c.1616C>T (p.Pro539Leu) c.1589C>T (p.Pro530Leu) c.1643C>T (p.Pro548Leu) n.592C>T n.5923C>T c.1901C>T (p.Pro634Leu) c.1727C>T (p.Pro576Leu) c.1703C>T (p.Pro568Leu) c.836C>T (p.Pro279Leu) c.749C>T (p.Pro250Leu) c.662C>T (p.Pro221Leu) n.591-29C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996481G>A | CA8618041 | MAPT | c.552G>A (p.Pro184=) c.465G>A (p.Pro155=) c.639G>A (p.Pro213=) n.503G>A c.1815G>A (p.Pro605=) c.1617G>A (p.Pro539=) c.1590G>A (p.Pro530=) c.1644G>A (p.Pro548=) n.593G>A n.5924G>A c.1902G>A (p.Pro634=) c.1728G>A (p.Pro576=) c.1704G>A (p.Pro568=) c.837G>A (p.Pro279=) c.750G>A (p.Pro250=) c.663G>A (p.Pro221=) n.591-28G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996481G>C | CA500643952 | MAPT | c.552G>C (p.Pro184=) c.465G>C (p.Pro155=) c.639G>C (p.Pro213=) n.503G>C c.1815G>C (p.Pro605=) c.1617G>C (p.Pro539=) c.1590G>C (p.Pro530=) c.1644G>C (p.Pro548=) n.593G>C n.5924G>C c.1902G>C (p.Pro634=) c.1728G>C (p.Pro576=) c.1704G>C (p.Pro568=) c.837G>C (p.Pro279=) c.750G>C (p.Pro250=) c.663G>C (p.Pro221=) n.591-28G>C | gnomAD v4 |
17 | g.45996481G= | CA2262094990 | MAPT | c.552G= (p.Pro184=) c.465G= (p.Pro155=) c.639G= (p.Pro213=) n.503G= c.1815G= (p.Pro605=) c.1617G= (p.Pro539=) c.1590G= (p.Pro530=) c.1644G= (p.Pro548=) n.593G= n.5924G= c.1902G= (p.Pro634=) c.1728G= (p.Pro576=) c.1704G= (p.Pro568=) c.837G= (p.Pro279=) c.750G= (p.Pro250=) c.663G= (p.Pro221=) n.591-28G= | |
17 | g.45996481G>T | CA500643951 | MAPT | c.552G>T (p.Pro184=) c.465G>T (p.Pro155=) c.639G>T (p.Pro213=) n.503G>T c.1815G>T (p.Pro605=) c.1617G>T (p.Pro539=) c.1590G>T (p.Pro530=) c.1644G>T (p.Pro548=) n.593G>T n.5924G>T c.1902G>T (p.Pro634=) c.1728G>T (p.Pro576=) c.1704G>T (p.Pro568=) c.837G>T (p.Pro279=) c.750G>T (p.Pro250=) c.663G>T (p.Pro221=) n.591-28G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996482T>A | CA399978098 | MAPT | c.553T>A (p.Ser185Thr) c.466T>A (p.Ser156Thr) c.640T>A (p.Ser214Thr) n.504T>A c.1816T>A (p.Ser606Thr) c.1618T>A (p.Ser540Thr) c.1591T>A (p.Ser531Thr) c.1645T>A (p.Ser549Thr) n.594T>A n.5925T>A c.1903T>A (p.Ser635Thr) c.1729T>A (p.Ser577Thr) c.1705T>A (p.Ser569Thr) c.838T>A (p.Ser280Thr) c.751T>A (p.Ser251Thr) c.664T>A (p.Ser222Thr) n.591-27T>A | |
17 | g.45996482T>C | CA399978099 | MAPT | c.553T>C (p.Ser185Pro) c.466T>C (p.Ser156Pro) c.640T>C (p.Ser214Pro) n.504T>C c.1816T>C (p.Ser606Pro) c.1618T>C (p.Ser540Pro) c.1591T>C (p.Ser531Pro) c.1645T>C (p.Ser549Pro) n.594T>C n.5925T>C c.1903T>C (p.Ser635Pro) c.1729T>C (p.Ser577Pro) c.1705T>C (p.Ser569Pro) c.838T>C (p.Ser280Pro) c.751T>C (p.Ser251Pro) c.664T>C (p.Ser222Pro) n.591-27T>C | |
17 | g.45996482T>G | CA399978100 | MAPT | c.553T>G (p.Ser185Ala) c.466T>G (p.Ser156Ala) c.640T>G (p.Ser214Ala) n.504T>G c.1816T>G (p.Ser606Ala) c.1618T>G (p.Ser540Ala) c.1591T>G (p.Ser531Ala) c.1645T>G (p.Ser549Ala) n.594T>G n.5925T>G c.1903T>G (p.Ser635Ala) c.1729T>G (p.Ser577Ala) c.1705T>G (p.Ser569Ala) c.838T>G (p.Ser280Ala) c.751T>G (p.Ser251Ala) c.664T>G (p.Ser222Ala) n.591-27T>G | |
17 | g.45996483C>A | CA399978101 | MAPT | c.554C>A (p.Ser185Tyr) c.467C>A (p.Ser156Tyr) c.641C>A (p.Ser214Tyr) n.505C>A c.1817C>A (p.Ser606Tyr) c.1619C>A (p.Ser540Tyr) c.1592C>A (p.Ser531Tyr) c.1646C>A (p.Ser549Tyr) n.595C>A n.5926C>A c.1904C>A (p.Ser635Tyr) c.1730C>A (p.Ser577Tyr) c.1706C>A (p.Ser569Tyr) c.839C>A (p.Ser280Tyr) c.752C>A (p.Ser251Tyr) c.665C>A (p.Ser222Tyr) n.591-26C>A | |
17 | g.45996483C>G | CA399978102 | MAPT | c.554C>G (p.Ser185Cys) c.467C>G (p.Ser156Cys) c.641C>G (p.Ser214Cys) n.505C>G c.1817C>G (p.Ser606Cys) c.1619C>G (p.Ser540Cys) c.1592C>G (p.Ser531Cys) c.1646C>G (p.Ser549Cys) n.595C>G n.5926C>G c.1904C>G (p.Ser635Cys) c.1730C>G (p.Ser577Cys) c.1706C>G (p.Ser569Cys) c.839C>G (p.Ser280Cys) c.752C>G (p.Ser251Cys) c.665C>G (p.Ser222Cys) n.591-26C>G | |
17 | g.45996483C>T | CA399978103 | MAPT | c.554C>T (p.Ser185Phe) c.467C>T (p.Ser156Phe) c.641C>T (p.Ser214Phe) n.505C>T c.1817C>T (p.Ser606Phe) c.1619C>T (p.Ser540Phe) c.1592C>T (p.Ser531Phe) c.1646C>T (p.Ser549Phe) n.595C>T n.5926C>T c.1904C>T (p.Ser635Phe) c.1730C>T (p.Ser577Phe) c.1706C>T (p.Ser569Phe) c.839C>T (p.Ser280Phe) c.752C>T (p.Ser251Phe) c.665C>T (p.Ser222Phe) n.591-26C>T | |
17 | g.45996484C>A | CA500643954 | MAPT | c.555C>A (p.Ser185=) c.468C>A (p.Ser156=) c.642C>A (p.Ser214=) n.506C>A c.1818C>A (p.Ser606=) c.1620C>A (p.Ser540=) c.1593C>A (p.Ser531=) c.1647C>A (p.Ser549=) n.596C>A n.5927C>A c.1905C>A (p.Ser635=) c.1731C>A (p.Ser577=) c.1707C>A (p.Ser569=) c.840C>A (p.Ser280=) c.753C>A (p.Ser251=) c.666C>A (p.Ser222=) n.591-25C>A | |
17 | g.45996484C>G | CA500643955 | MAPT | c.555C>G (p.Ser185=) c.468C>G (p.Ser156=) c.642C>G (p.Ser214=) n.506C>G c.1818C>G (p.Ser606=) c.1620C>G (p.Ser540=) c.1593C>G (p.Ser531=) c.1647C>G (p.Ser549=) n.596C>G n.5927C>G c.1905C>G (p.Ser635=) c.1731C>G (p.Ser577=) c.1707C>G (p.Ser569=) c.840C>G (p.Ser280=) c.753C>G (p.Ser251=) c.666C>G (p.Ser222=) n.591-25C>G | |
17 | g.45996484C>T | CA500643953 | MAPT | c.555C>T (p.Ser185=) c.468C>T (p.Ser156=) c.642C>T (p.Ser214=) n.506C>T c.1818C>T (p.Ser606=) c.1620C>T (p.Ser540=) c.1593C>T (p.Ser531=) c.1647C>T (p.Ser549=) n.596C>T n.5927C>T c.1905C>T (p.Ser635=) c.1731C>T (p.Ser577=) c.1707C>T (p.Ser569=) c.840C>T (p.Ser280=) c.753C>T (p.Ser251=) c.666C>T (p.Ser222=) n.591-25C>T | |
17 | g.45996485C>A | CA399978104 | MAPT | c.556C>A (p.Leu186Ile) c.469C>A (p.Leu157Ile) c.643C>A (p.Leu215Ile) n.507C>A c.1819C>A (p.Leu607Ile) c.1621C>A (p.Leu541Ile) c.1594C>A (p.Leu532Ile) c.1648C>A (p.Leu550Ile) n.597C>A n.5928C>A c.1906C>A (p.Leu636Ile) c.1732C>A (p.Leu578Ile) c.1708C>A (p.Leu570Ile) c.841C>A (p.Leu281Ile) c.754C>A (p.Leu252Ile) c.667C>A (p.Leu223Ile) n.591-24C>A | |
17 | g.45996485C>G | CA399978105 | MAPT | c.556C>G (p.Leu186Val) c.469C>G (p.Leu157Val) c.643C>G (p.Leu215Val) n.507C>G c.1819C>G (p.Leu607Val) c.1621C>G (p.Leu541Val) c.1594C>G (p.Leu532Val) c.1648C>G (p.Leu550Val) n.597C>G n.5928C>G c.1906C>G (p.Leu636Val) c.1732C>G (p.Leu578Val) c.1708C>G (p.Leu570Val) c.841C>G (p.Leu281Val) c.754C>G (p.Leu252Val) c.667C>G (p.Leu223Val) n.591-24C>G | |
17 | g.45996485C>T | CA399978106 | MAPT | c.556C>T (p.Leu186Phe) c.469C>T (p.Leu157Phe) c.643C>T (p.Leu215Phe) n.507C>T c.1819C>T (p.Leu607Phe) c.1621C>T (p.Leu541Phe) c.1594C>T (p.Leu532Phe) c.1648C>T (p.Leu550Phe) n.597C>T n.5928C>T c.1906C>T (p.Leu636Phe) c.1732C>T (p.Leu578Phe) c.1708C>T (p.Leu570Phe) c.841C>T (p.Leu281Phe) c.754C>T (p.Leu252Phe) c.667C>T (p.Leu223Phe) n.591-24C>T | |
17 | g.45996486T>A | CA399978108 | MAPT | c.557T>A (p.Leu186His) c.470T>A (p.Leu157His) c.644T>A (p.Leu215His) n.508T>A c.1820T>A (p.Leu607His) c.1622T>A (p.Leu541His) c.1595T>A (p.Leu532His) c.1649T>A (p.Leu550His) n.598T>A n.5929T>A c.1907T>A (p.Leu636His) c.1733T>A (p.Leu578His) c.1709T>A (p.Leu570His) c.842T>A (p.Leu281His) c.755T>A (p.Leu252His) c.668T>A (p.Leu223His) n.591-23T>A | gnomAD v3 gnomAD v4 |
17 | g.45996486T>C | CA399978109 | MAPT | c.557T>C (p.Leu186Pro) c.470T>C (p.Leu157Pro) c.644T>C (p.Leu215Pro) n.508T>C c.1820T>C (p.Leu607Pro) c.1622T>C (p.Leu541Pro) c.1595T>C (p.Leu532Pro) c.1649T>C (p.Leu550Pro) n.598T>C n.5929T>C c.1907T>C (p.Leu636Pro) c.1733T>C (p.Leu578Pro) c.1709T>C (p.Leu570Pro) c.842T>C (p.Leu281Pro) c.755T>C (p.Leu252Pro) c.668T>C (p.Leu223Pro) n.591-23T>C | |
17 | g.45996486T>G | CA399978107 | MAPT | c.557T>G (p.Leu186Arg) c.470T>G (p.Leu157Arg) c.644T>G (p.Leu215Arg) n.508T>G c.1820T>G (p.Leu607Arg) c.1622T>G (p.Leu541Arg) c.1595T>G (p.Leu532Arg) c.1649T>G (p.Leu550Arg) n.598T>G n.5929T>G c.1907T>G (p.Leu636Arg) c.1733T>G (p.Leu578Arg) c.1709T>G (p.Leu570Arg) c.842T>G (p.Leu281Arg) c.755T>G (p.Leu252Arg) c.668T>G (p.Leu223Arg) n.591-23T>G | gnomAD v4 |
17 | g.45996487T>A | CA500643956 | MAPT | c.558T>A (p.Leu186=) c.471T>A (p.Leu157=) c.645T>A (p.Leu215=) n.509T>A c.1821T>A (p.Leu607=) c.1623T>A (p.Leu541=) c.1596T>A (p.Leu532=) c.1650T>A (p.Leu550=) n.599T>A n.5930T>A c.1908T>A (p.Leu636=) c.1734T>A (p.Leu578=) c.1710T>A (p.Leu570=) c.843T>A (p.Leu281=) c.756T>A (p.Leu252=) c.669T>A (p.Leu223=) n.591-22T>A | |
17 | g.45996487T>C | CA500643957 | MAPT | c.558T>C (p.Leu186=) c.471T>C (p.Leu157=) c.645T>C (p.Leu215=) n.509T>C c.1821T>C (p.Leu607=) c.1623T>C (p.Leu541=) c.1596T>C (p.Leu532=) c.1650T>C (p.Leu550=) n.599T>C n.5930T>C c.1908T>C (p.Leu636=) c.1734T>C (p.Leu578=) c.1710T>C (p.Leu570=) c.843T>C (p.Leu281=) c.756T>C (p.Leu252=) c.669T>C (p.Leu223=) n.591-22T>C | |
17 | g.45996487T>G | CA500643958 | MAPT | c.558T>G (p.Leu186=) c.471T>G (p.Leu157=) c.645T>G (p.Leu215=) n.509T>G c.1821T>G (p.Leu607=) c.1623T>G (p.Leu541=) c.1596T>G (p.Leu532=) c.1650T>G (p.Leu550=) n.599T>G n.5930T>G c.1908T>G (p.Leu636=) c.1734T>G (p.Leu578=) c.1710T>G (p.Leu570=) c.843T>G (p.Leu281=) c.756T>G (p.Leu252=) c.669T>G (p.Leu223=) n.591-22T>G | |
17 | g.45996488C>A | CA399978110 | MAPT | c.559C>A (p.Pro187Thr) c.472C>A (p.Pro158Thr) c.646C>A (p.Pro216Thr) n.510C>A c.1822C>A (p.Pro608Thr) c.1624C>A (p.Pro542Thr) c.1597C>A (p.Pro533Thr) c.1651C>A (p.Pro551Thr) n.600C>A n.5931C>A c.1909C>A (p.Pro637Thr) c.1735C>A (p.Pro579Thr) c.1711C>A (p.Pro571Thr) c.844C>A (p.Pro282Thr) c.757C>A (p.Pro253Thr) c.670C>A (p.Pro224Thr) n.591-21C>A | |
17 | g.45996488C>G | CA399978111 | MAPT | c.559C>G (p.Pro187Ala) c.472C>G (p.Pro158Ala) c.646C>G (p.Pro216Ala) n.510C>G c.1822C>G (p.Pro608Ala) c.1624C>G (p.Pro542Ala) c.1597C>G (p.Pro533Ala) c.1651C>G (p.Pro551Ala) n.600C>G n.5931C>G c.1909C>G (p.Pro637Ala) c.1735C>G (p.Pro579Ala) c.1711C>G (p.Pro571Ala) c.844C>G (p.Pro282Ala) c.757C>G (p.Pro253Ala) c.670C>G (p.Pro224Ala) n.591-21C>G | |
17 | g.45996488C>T | CA399978112 | MAPT | c.559C>T (p.Pro187Ser) c.472C>T (p.Pro158Ser) c.646C>T (p.Pro216Ser) n.510C>T c.1822C>T (p.Pro608Ser) c.1624C>T (p.Pro542Ser) c.1597C>T (p.Pro533Ser) c.1651C>T (p.Pro551Ser) n.600C>T n.5931C>T c.1909C>T (p.Pro637Ser) c.1735C>T (p.Pro579Ser) c.1711C>T (p.Pro571Ser) c.844C>T (p.Pro282Ser) c.757C>T (p.Pro253Ser) c.670C>T (p.Pro224Ser) n.591-21C>T | |
17 | g.45996489C>A | CA399978113 | MAPT | c.560C>A (p.Pro187Gln) c.473C>A (p.Pro158Gln) c.647C>A (p.Pro216Gln) n.511C>A c.1823C>A (p.Pro608Gln) c.1625C>A (p.Pro542Gln) c.1598C>A (p.Pro533Gln) c.1652C>A (p.Pro551Gln) n.601C>A n.5932C>A c.1910C>A (p.Pro637Gln) c.1736C>A (p.Pro579Gln) c.1712C>A (p.Pro571Gln) c.845C>A (p.Pro282Gln) c.758C>A (p.Pro253Gln) c.671C>A (p.Pro224Gln) n.591-20C>A | |
17 | g.45996489C>G | CA399978114 | MAPT | c.560C>G (p.Pro187Arg) c.473C>G (p.Pro158Arg) c.647C>G (p.Pro216Arg) n.511C>G c.1823C>G (p.Pro608Arg) c.1625C>G (p.Pro542Arg) c.1598C>G (p.Pro533Arg) c.1652C>G (p.Pro551Arg) n.601C>G n.5932C>G c.1910C>G (p.Pro637Arg) c.1736C>G (p.Pro579Arg) c.1712C>G (p.Pro571Arg) c.845C>G (p.Pro282Arg) c.758C>G (p.Pro253Arg) c.671C>G (p.Pro224Arg) n.591-20C>G | |
17 | g.45996489C>T | CA399978115 | MAPT | c.560C>T (p.Pro187Leu) c.473C>T (p.Pro158Leu) c.647C>T (p.Pro216Leu) n.511C>T c.1823C>T (p.Pro608Leu) c.1625C>T (p.Pro542Leu) c.1598C>T (p.Pro533Leu) c.1652C>T (p.Pro551Leu) n.601C>T n.5932C>T c.1910C>T (p.Pro637Leu) c.1736C>T (p.Pro579Leu) c.1712C>T (p.Pro571Leu) c.845C>T (p.Pro282Leu) c.758C>T (p.Pro253Leu) c.671C>T (p.Pro224Leu) n.591-20C>T | |
17 | g.45996490A>C | CA500643959 | MAPT | c.561A>C (p.Pro187=) c.474A>C (p.Pro158=) c.648A>C (p.Pro216=) n.512A>C c.1824A>C (p.Pro608=) c.1626A>C (p.Pro542=) c.1599A>C (p.Pro533=) c.1653A>C (p.Pro551=) n.602A>C n.5933A>C c.1911A>C (p.Pro637=) c.1737A>C (p.Pro579=) c.1713A>C (p.Pro571=) c.846A>C (p.Pro282=) c.759A>C (p.Pro253=) c.672A>C (p.Pro224=) n.591-19A>C | |
17 | g.45996490A>G | CA500643961 | MAPT | c.561A>G (p.Pro187=) c.474A>G (p.Pro158=) c.648A>G (p.Pro216=) n.512A>G c.1824A>G (p.Pro608=) c.1626A>G (p.Pro542=) c.1599A>G (p.Pro533=) c.1653A>G (p.Pro551=) n.602A>G n.5933A>G c.1911A>G (p.Pro637=) c.1737A>G (p.Pro579=) c.1713A>G (p.Pro571=) c.846A>G (p.Pro282=) c.759A>G (p.Pro253=) c.672A>G (p.Pro224=) n.591-19A>G | |
17 | g.45996490A>T | CA500643960 | MAPT | c.561A>T (p.Pro187=) c.474A>T (p.Pro158=) c.648A>T (p.Pro216=) n.512A>T c.1824A>T (p.Pro608=) c.1626A>T (p.Pro542=) c.1599A>T (p.Pro533=) c.1653A>T (p.Pro551=) n.602A>T n.5933A>T c.1911A>T (p.Pro637=) c.1737A>T (p.Pro579=) c.1713A>T (p.Pro571=) c.846A>T (p.Pro282=) c.759A>T (p.Pro253=) c.672A>T (p.Pro224=) n.591-19A>T | |
17 | g.45996491A>C | CA399978116 | MAPT | c.562A>C (p.Thr188Pro) c.475A>C (p.Thr159Pro) c.649A>C (p.Thr217Pro) n.513A>C c.1825A>C (p.Thr609Pro) c.1627A>C (p.Thr543Pro) c.1600A>C (p.Thr534Pro) c.1654A>C (p.Thr552Pro) n.603A>C n.5934A>C c.1912A>C (p.Thr638Pro) c.1738A>C (p.Thr580Pro) c.1714A>C (p.Thr572Pro) c.847A>C (p.Thr283Pro) c.760A>C (p.Thr254Pro) c.673A>C (p.Thr225Pro) n.591-18A>C | |
17 | g.45996491A>G | CA399978117 | MAPT | c.562A>G (p.Thr188Ala) c.475A>G (p.Thr159Ala) c.649A>G (p.Thr217Ala) n.513A>G c.1825A>G (p.Thr609Ala) c.1627A>G (p.Thr543Ala) c.1600A>G (p.Thr534Ala) c.1654A>G (p.Thr552Ala) n.603A>G n.5934A>G c.1912A>G (p.Thr638Ala) c.1738A>G (p.Thr580Ala) c.1714A>G (p.Thr572Ala) c.847A>G (p.Thr283Ala) c.760A>G (p.Thr254Ala) c.673A>G (p.Thr225Ala) n.591-18A>G | |
17 | g.45996491A>T | CA399978118 | MAPT | c.562A>T (p.Thr188Ser) c.475A>T (p.Thr159Ser) c.649A>T (p.Thr217Ser) n.513A>T c.1825A>T (p.Thr609Ser) c.1627A>T (p.Thr543Ser) c.1600A>T (p.Thr534Ser) c.1654A>T (p.Thr552Ser) n.603A>T n.5934A>T c.1912A>T (p.Thr638Ser) c.1738A>T (p.Thr580Ser) c.1714A>T (p.Thr572Ser) c.847A>T (p.Thr283Ser) c.760A>T (p.Thr254Ser) c.673A>T (p.Thr225Ser) n.591-18A>T | |
17 | g.45996492C>A | CA8618043 | MAPT | c.563C>A (p.Thr188Asn) c.476C>A (p.Thr159Asn) c.650C>A (p.Thr217Asn) n.514C>A c.1826C>A (p.Thr609Asn) c.1628C>A (p.Thr543Asn) c.1601C>A (p.Thr534Asn) c.1655C>A (p.Thr552Asn) n.604C>A n.5935C>A c.1913C>A (p.Thr638Asn) c.1739C>A (p.Thr580Asn) c.1715C>A (p.Thr572Asn) c.848C>A (p.Thr283Asn) c.761C>A (p.Thr254Asn) c.674C>A (p.Thr225Asn) n.591-17C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996492C= | CA2262094991 | MAPT | c.563C= (p.Thr188=) c.476C= (p.Thr159=) c.650C= (p.Thr217=) n.514C= c.1826C= (p.Thr609=) c.1628C= (p.Thr543=) c.1601C= (p.Thr534=) c.1655C= (p.Thr552=) n.604C= n.5935C= c.1913C= (p.Thr638=) c.1739C= (p.Thr580=) c.1715C= (p.Thr572=) c.848C= (p.Thr283=) c.761C= (p.Thr254=) c.674C= (p.Thr225=) n.591-17C= | |
17 | g.45996492C>G | CA399978119 | MAPT | c.563C>G (p.Thr188Ser) c.476C>G (p.Thr159Ser) c.650C>G (p.Thr217Ser) n.514C>G c.1826C>G (p.Thr609Ser) c.1628C>G (p.Thr543Ser) c.1601C>G (p.Thr534Ser) c.1655C>G (p.Thr552Ser) n.604C>G n.5935C>G c.1913C>G (p.Thr638Ser) c.1739C>G (p.Thr580Ser) c.1715C>G (p.Thr572Ser) c.848C>G (p.Thr283Ser) c.761C>G (p.Thr254Ser) c.674C>G (p.Thr225Ser) n.591-17C>G | |
17 | g.45996492C>T | CA8618042 | MAPT | c.563C>T (p.Thr188Ile) c.476C>T (p.Thr159Ile) c.650C>T (p.Thr217Ile) n.514C>T c.1826C>T (p.Thr609Ile) c.1628C>T (p.Thr543Ile) c.1601C>T (p.Thr534Ile) c.1655C>T (p.Thr552Ile) n.604C>T n.5935C>T c.1913C>T (p.Thr638Ile) c.1739C>T (p.Thr580Ile) c.1715C>T (p.Thr572Ile) c.848C>T (p.Thr283Ile) c.761C>T (p.Thr254Ile) c.674C>T (p.Thr225Ile) n.591-17C>T | dbSNP ExAC gnomAD v2 |
17 | g.45996495dup | CA2638372277 | MAPT | c.566dup (p.Pro190ThrfsTer?) c.479dup (p.Pro161ThrfsTer?) c.653dup (p.Pro219ThrfsTer?) n.517dup c.1829dup (p.Pro611ThrfsTer?) c.1631dup (p.Pro545ThrfsTer?) c.1604dup (p.Pro536ThrfsTer?) c.1658dup (p.Pro554ThrfsTer?) n.607dup n.5938dup c.1916dup (p.Pro640ThrfsTer?) c.1742dup (p.Pro582ThrfsTer?) c.1718dup (p.Pro574ThrfsTer?) c.851dup (p.Pro285ThrfsTer?) c.764dup (p.Pro256ThrfsTer?) c.677dup (p.Pro227ThrfsTer?) n.591-14dup | gnomAD v4 |
17 | g.45996492_45996493insAAA | CA2809638471 | MAPT | c.563_564insAAA (p.Thr188_Pro189insAsn) c.476_477insAAA (p.Thr159_Pro160insAsn) c.650_651insAAA (p.Thr217_Pro218insAsn) n.514_515insAAA c.1826_1827insAAA (p.Thr609_Pro610insAsn) c.1628_1629insAAA (p.Thr543_Pro544insAsn) c.1601_1602insAAA (p.Thr534_Pro535insAsn) c.1655_1656insAAA (p.Thr552_Pro553insAsn) n.604_605insAAA n.5935_5936insAAA c.1913_1914insAAA (p.Thr638_Pro639insAsn) c.1739_1740insAAA (p.Thr580_Pro581insAsn) c.1715_1716insAAA (p.Thr572_Pro573insAsn) c.848_849insAAA (p.Thr283_Pro284insAsn) c.761_762insAAA (p.Thr254_Pro255insAsn) c.674_675insAAA (p.Thr225_Pro226insAsn) n.591-17_591-16insAAA | |
17 | g.45996493C>A | CA500643963 | MAPT | c.564C>A (p.Thr188=) c.477C>A (p.Thr159=) c.651C>A (p.Thr217=) n.515C>A c.1827C>A (p.Thr609=) c.1629C>A (p.Thr543=) c.1602C>A (p.Thr534=) c.1656C>A (p.Thr552=) n.605C>A n.5936C>A c.1914C>A (p.Thr638=) c.1740C>A (p.Thr580=) c.1716C>A (p.Thr572=) c.849C>A (p.Thr283=) c.762C>A (p.Thr254=) c.675C>A (p.Thr225=) n.591-16C>A | gnomAD v4 |
17 | g.45996493C>G | CA500643964 | MAPT | c.564C>G (p.Thr188=) c.477C>G (p.Thr159=) c.651C>G (p.Thr217=) n.515C>G c.1827C>G (p.Thr609=) c.1629C>G (p.Thr543=) c.1602C>G (p.Thr534=) c.1656C>G (p.Thr552=) n.605C>G n.5936C>G c.1914C>G (p.Thr638=) c.1740C>G (p.Thr580=) c.1716C>G (p.Thr572=) c.849C>G (p.Thr283=) c.762C>G (p.Thr254=) c.675C>G (p.Thr225=) n.591-16C>G | gnomAD v4 |
17 | g.45996493C>T | CA500643962 | MAPT | c.564C>T (p.Thr188=) c.477C>T (p.Thr159=) c.651C>T (p.Thr217=) n.515C>T c.1827C>T (p.Thr609=) c.1629C>T (p.Thr543=) c.1602C>T (p.Thr534=) c.1656C>T (p.Thr552=) n.605C>T n.5936C>T c.1914C>T (p.Thr638=) c.1740C>T (p.Thr580=) c.1716C>T (p.Thr572=) c.849C>T (p.Thr283=) c.762C>T (p.Thr254=) c.675C>T (p.Thr225=) n.591-16C>T | |
17 | g.45996494C>A | CA399978121 | MAPT | c.565C>A (p.Pro189Thr) c.478C>A (p.Pro160Thr) c.652C>A (p.Pro218Thr) n.516C>A c.1828C>A (p.Pro610Thr) c.1630C>A (p.Pro544Thr) c.1603C>A (p.Pro535Thr) c.1657C>A (p.Pro553Thr) n.606C>A n.5937C>A c.1915C>A (p.Pro639Thr) c.1741C>A (p.Pro581Thr) c.1717C>A (p.Pro573Thr) c.850C>A (p.Pro284Thr) c.763C>A (p.Pro255Thr) c.676C>A (p.Pro226Thr) n.591-15C>A | |
17 | g.45996494C>G | CA399978122 | MAPT | c.565C>G (p.Pro189Ala) c.478C>G (p.Pro160Ala) c.652C>G (p.Pro218Ala) n.516C>G c.1828C>G (p.Pro610Ala) c.1630C>G (p.Pro544Ala) c.1603C>G (p.Pro535Ala) c.1657C>G (p.Pro553Ala) n.606C>G n.5937C>G c.1915C>G (p.Pro639Ala) c.1741C>G (p.Pro581Ala) c.1717C>G (p.Pro573Ala) c.850C>G (p.Pro284Ala) c.763C>G (p.Pro255Ala) c.676C>G (p.Pro226Ala) n.591-15C>G | gnomAD v4 |
17 | g.45996494C>T | CA399978120 | MAPT | c.565C>T (p.Pro189Ser) c.478C>T (p.Pro160Ser) c.652C>T (p.Pro218Ser) n.516C>T c.1828C>T (p.Pro610Ser) c.1630C>T (p.Pro544Ser) c.1603C>T (p.Pro535Ser) c.1657C>T (p.Pro553Ser) n.606C>T n.5937C>T c.1915C>T (p.Pro639Ser) c.1741C>T (p.Pro581Ser) c.1717C>T (p.Pro573Ser) c.850C>T (p.Pro284Ser) c.763C>T (p.Pro255Ser) c.676C>T (p.Pro226Ser) n.591-15C>T | |
17 | g.45996495C>A | CA399978123 | MAPT | c.566C>A (p.Pro189Gln) c.479C>A (p.Pro160Gln) c.653C>A (p.Pro218Gln) n.517C>A c.1829C>A (p.Pro610Gln) c.1631C>A (p.Pro544Gln) c.1604C>A (p.Pro535Gln) c.1658C>A (p.Pro553Gln) n.607C>A n.5938C>A c.1916C>A (p.Pro639Gln) c.1742C>A (p.Pro581Gln) c.1718C>A (p.Pro573Gln) c.851C>A (p.Pro284Gln) c.764C>A (p.Pro255Gln) c.677C>A (p.Pro226Gln) n.591-14C>A | |
17 | g.45996495C= | CA2262094992 | MAPT | c.566C= (p.Pro189=) c.479C= (p.Pro160=) c.653C= (p.Pro218=) n.517C= c.1829C= (p.Pro610=) c.1631C= (p.Pro544=) c.1604C= (p.Pro535=) c.1658C= (p.Pro553=) n.607C= n.5938C= c.1916C= (p.Pro639=) c.1742C= (p.Pro581=) c.1718C= (p.Pro573=) c.851C= (p.Pro284=) c.764C= (p.Pro255=) c.677C= (p.Pro226=) n.591-14C= | |
17 | g.45996495C>G | CA399978124 | MAPT | c.566C>G (p.Pro189Arg) c.479C>G (p.Pro160Arg) c.653C>G (p.Pro218Arg) n.517C>G c.1829C>G (p.Pro610Arg) c.1631C>G (p.Pro544Arg) c.1604C>G (p.Pro535Arg) c.1658C>G (p.Pro553Arg) n.607C>G n.5938C>G c.1916C>G (p.Pro639Arg) c.1742C>G (p.Pro581Arg) c.1718C>G (p.Pro573Arg) c.851C>G (p.Pro284Arg) c.764C>G (p.Pro255Arg) c.677C>G (p.Pro226Arg) n.591-14C>G | |
17 | g.45996495C>T | CA291107184 | MAPT | c.566C>T (p.Pro189Leu) c.479C>T (p.Pro160Leu) c.653C>T (p.Pro218Leu) n.517C>T c.1829C>T (p.Pro610Leu) c.1631C>T (p.Pro544Leu) c.1604C>T (p.Pro535Leu) c.1658C>T (p.Pro553Leu) n.607C>T n.5938C>T c.1916C>T (p.Pro639Leu) c.1742C>T (p.Pro581Leu) c.1718C>T (p.Pro573Leu) c.851C>T (p.Pro284Leu) c.764C>T (p.Pro255Leu) c.677C>T (p.Pro226Leu) n.591-14C>T | dbSNP |
17 | g.45996495_45996496insCAAACAC | CA2809638472 | MAPT | c.566_567insCAAACAC (p.Pro190LysfsTer?) c.479_480insCAAACAC (p.Pro161LysfsTer?) c.653_654insCAAACAC (p.Pro219LysfsTer?) n.517_518insCAAACAC c.1829_1830insCAAACAC (p.Pro611LysfsTer?) c.1631_1632insCAAACAC (p.Pro545LysfsTer?) c.1604_1605insCAAACAC (p.Pro536LysfsTer?) c.1658_1659insCAAACAC (p.Pro554LysfsTer?) n.607_608insCAAACAC n.5938_5939insCAAACAC c.1916_1917insCAAACAC (p.Pro640LysfsTer?) c.1742_1743insCAAACAC (p.Pro582LysfsTer?) c.1718_1719insCAAACAC (p.Pro574LysfsTer?) c.851_852insCAAACAC (p.Pro285LysfsTer?) c.764_765insCAAACAC (p.Pro256LysfsTer?) c.677_678insCAAACAC (p.Pro227LysfsTer?) n.591-14_591-13insCAAACAC | |
17 | g.45996496A= | CA2262094993 | MAPT | c.567A= (p.Pro189=) c.480A= (p.Pro160=) c.654A= (p.Pro218=) n.518A= c.1830A= (p.Pro610=) c.1632A= (p.Pro544=) c.1605A= (p.Pro535=) c.1659A= (p.Pro553=) n.608A= n.5939A= c.1917A= (p.Pro639=) c.1743A= (p.Pro581=) c.1719A= (p.Pro573=) c.852A= (p.Pro284=) c.765A= (p.Pro255=) c.678A= (p.Pro226=) n.591-13A= | |
17 | g.45996496A>C | CA500643965 | MAPT | c.567A>C (p.Pro189=) c.480A>C (p.Pro160=) c.654A>C (p.Pro218=) n.518A>C c.1830A>C (p.Pro610=) c.1632A>C (p.Pro544=) c.1605A>C (p.Pro535=) c.1659A>C (p.Pro553=) n.608A>C n.5939A>C c.1917A>C (p.Pro639=) c.1743A>C (p.Pro581=) c.1719A>C (p.Pro573=) c.852A>C (p.Pro284=) c.765A>C (p.Pro255=) c.678A>C (p.Pro226=) n.591-13A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996496A>G | CA8618044 | MAPT | c.567A>G (p.Pro189=) c.480A>G (p.Pro160=) c.654A>G (p.Pro218=) n.518A>G c.1830A>G (p.Pro610=) c.1632A>G (p.Pro544=) c.1605A>G (p.Pro535=) c.1659A>G (p.Pro553=) n.608A>G n.5939A>G c.1917A>G (p.Pro639=) c.1743A>G (p.Pro581=) c.1719A>G (p.Pro573=) c.852A>G (p.Pro284=) c.765A>G (p.Pro255=) c.678A>G (p.Pro226=) n.591-13A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996496A>T | CA500643966 | MAPT | c.567A>T (p.Pro189=) c.480A>T (p.Pro160=) c.654A>T (p.Pro218=) n.518A>T c.1830A>T (p.Pro610=) c.1632A>T (p.Pro544=) c.1605A>T (p.Pro535=) c.1659A>T (p.Pro553=) n.608A>T n.5939A>T c.1917A>T (p.Pro639=) c.1743A>T (p.Pro581=) c.1719A>T (p.Pro573=) c.852A>T (p.Pro284=) c.765A>T (p.Pro255=) c.678A>T (p.Pro226=) n.591-13A>T | |
17 | g.45996497C>A | CA399978127 | MAPT | c.568C>A (p.Pro190Thr) c.481C>A (p.Pro161Thr) c.655C>A (p.Pro219Thr) n.519C>A c.1831C>A (p.Pro611Thr) c.1633C>A (p.Pro545Thr) c.1606C>A (p.Pro536Thr) c.1660C>A (p.Pro554Thr) n.609C>A n.5940C>A c.1918C>A (p.Pro640Thr) c.1744C>A (p.Pro582Thr) c.1720C>A (p.Pro574Thr) c.853C>A (p.Pro285Thr) c.766C>A (p.Pro256Thr) c.679C>A (p.Pro227Thr) n.591-12C>A | |
17 | g.45996497C= | CA2262094994 | MAPT | c.568C= (p.Pro190=) c.481C= (p.Pro161=) c.655C= (p.Pro219=) n.519C= c.1831C= (p.Pro611=) c.1633C= (p.Pro545=) c.1606C= (p.Pro536=) c.1660C= (p.Pro554=) n.609C= n.5940C= c.1918C= (p.Pro640=) c.1744C= (p.Pro582=) c.1720C= (p.Pro574=) c.853C= (p.Pro285=) c.766C= (p.Pro256=) c.679C= (p.Pro227=) n.591-12C= | |
17 | g.45996497C>G | CA399978126 | MAPT | c.568C>G (p.Pro190Ala) c.481C>G (p.Pro161Ala) c.655C>G (p.Pro219Ala) n.519C>G c.1831C>G (p.Pro611Ala) c.1633C>G (p.Pro545Ala) c.1606C>G (p.Pro536Ala) c.1660C>G (p.Pro554Ala) n.609C>G n.5940C>G c.1918C>G (p.Pro640Ala) c.1744C>G (p.Pro582Ala) c.1720C>G (p.Pro574Ala) c.853C>G (p.Pro285Ala) c.766C>G (p.Pro256Ala) c.679C>G (p.Pro227Ala) n.591-12C>G | gnomAD v4 |
17 | g.45996497C>T | CA399978125 | MAPT | c.568C>T (p.Pro190Ser) c.481C>T (p.Pro161Ser) c.655C>T (p.Pro219Ser) n.519C>T c.1831C>T (p.Pro611Ser) c.1633C>T (p.Pro545Ser) c.1606C>T (p.Pro536Ser) c.1660C>T (p.Pro554Ser) n.609C>T n.5940C>T c.1918C>T (p.Pro640Ser) c.1744C>T (p.Pro582Ser) c.1720C>T (p.Pro574Ser) c.853C>T (p.Pro285Ser) c.766C>T (p.Pro256Ser) c.679C>T (p.Pro227Ser) n.591-12C>T | ClinVar dbSNP |
17 | g.45996498C>A | CA399978128 | MAPT | c.569C>A (p.Pro190His) c.482C>A (p.Pro161His) c.656C>A (p.Pro219His) n.520C>A c.1832C>A (p.Pro611His) c.1634C>A (p.Pro545His) c.1607C>A (p.Pro536His) c.1661C>A (p.Pro554His) n.610C>A n.5941C>A c.1919C>A (p.Pro640His) c.1745C>A (p.Pro582His) c.1721C>A (p.Pro574His) c.854C>A (p.Pro285His) c.767C>A (p.Pro256His) c.680C>A (p.Pro227His) n.591-11C>A | dbSNP gnomAD v2 |
17 | g.45996498C= | CA2262094995 | MAPT | c.569C= (p.Pro190=) c.482C= (p.Pro161=) c.656C= (p.Pro219=) n.520C= c.1832C= (p.Pro611=) c.1634C= (p.Pro545=) c.1607C= (p.Pro536=) c.1661C= (p.Pro554=) n.610C= n.5941C= c.1919C= (p.Pro640=) c.1745C= (p.Pro582=) c.1721C= (p.Pro574=) c.854C= (p.Pro285=) c.767C= (p.Pro256=) c.680C= (p.Pro227=) n.591-11C= | |
17 | g.45996498C>G | CA399978129 | MAPT | c.569C>G (p.Pro190Arg) c.482C>G (p.Pro161Arg) c.656C>G (p.Pro219Arg) n.520C>G c.1832C>G (p.Pro611Arg) c.1634C>G (p.Pro545Arg) c.1607C>G (p.Pro536Arg) c.1661C>G (p.Pro554Arg) n.610C>G n.5941C>G c.1919C>G (p.Pro640Arg) c.1745C>G (p.Pro582Arg) c.1721C>G (p.Pro574Arg) c.854C>G (p.Pro285Arg) c.767C>G (p.Pro256Arg) c.680C>G (p.Pro227Arg) n.591-11C>G | |
17 | g.45996498C>T | CA399978130 | MAPT | c.569C>T (p.Pro190Leu) c.482C>T (p.Pro161Leu) c.656C>T (p.Pro219Leu) n.520C>T c.1832C>T (p.Pro611Leu) c.1634C>T (p.Pro545Leu) c.1607C>T (p.Pro536Leu) c.1661C>T (p.Pro554Leu) n.610C>T n.5941C>T c.1919C>T (p.Pro640Leu) c.1745C>T (p.Pro582Leu) c.1721C>T (p.Pro574Leu) c.854C>T (p.Pro285Leu) c.767C>T (p.Pro256Leu) c.680C>T (p.Pro227Leu) n.591-11C>T | |
17 | g.45996499C>A | CA500643967 | MAPT | c.570C>A (p.Pro190=) c.483C>A (p.Pro161=) c.657C>A (p.Pro219=) n.521C>A c.1833C>A (p.Pro611=) c.1635C>A (p.Pro545=) c.1608C>A (p.Pro536=) c.1662C>A (p.Pro554=) n.611C>A n.5942C>A c.1920C>A (p.Pro640=) c.1746C>A (p.Pro582=) c.1722C>A (p.Pro574=) c.855C>A (p.Pro285=) c.768C>A (p.Pro256=) c.681C>A (p.Pro227=) n.591-10C>A | |
17 | g.45996499C= | CA2262094996 | MAPT | c.570C= (p.Pro190=) c.483C= (p.Pro161=) c.657C= (p.Pro219=) n.521C= c.1833C= (p.Pro611=) c.1635C= (p.Pro545=) c.1608C= (p.Pro536=) c.1662C= (p.Pro554=) n.611C= n.5942C= c.1920C= (p.Pro640=) c.1746C= (p.Pro582=) c.1722C= (p.Pro574=) c.855C= (p.Pro285=) c.768C= (p.Pro256=) c.681C= (p.Pro227=) n.591-10C= | |
17 | g.45996499C>G | CA500643968 | MAPT | c.570C>G (p.Pro190=) c.483C>G (p.Pro161=) c.657C>G (p.Pro219=) n.521C>G c.1833C>G (p.Pro611=) c.1635C>G (p.Pro545=) c.1608C>G (p.Pro536=) c.1662C>G (p.Pro554=) n.611C>G n.5942C>G c.1920C>G (p.Pro640=) c.1746C>G (p.Pro582=) c.1722C>G (p.Pro574=) c.855C>G (p.Pro285=) c.768C>G (p.Pro256=) c.681C>G (p.Pro227=) n.591-10C>G | gnomAD v4 |
17 | g.45996499C>T | CA8618045 | MAPT | c.570C>T (p.Pro190=) c.483C>T (p.Pro161=) c.657C>T (p.Pro219=) n.521C>T c.1833C>T (p.Pro611=) c.1635C>T (p.Pro545=) c.1608C>T (p.Pro536=) c.1662C>T (p.Pro554=) n.611C>T n.5942C>T c.1920C>T (p.Pro640=) c.1746C>T (p.Pro582=) c.1722C>T (p.Pro574=) c.855C>T (p.Pro285=) c.768C>T (p.Pro256=) c.681C>T (p.Pro227=) n.591-10C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996500_45996501insACACA | CA2809638476 | MAPT | c.571_572insACACA (p.Thr191AsnfsTer?) c.484_485insACACA (p.Thr162AsnfsTer?) c.658_659insACACA (p.Thr220AsnfsTer?) n.522_523insACACA c.1834_1835insACACA (p.Thr612AsnfsTer?) c.1636_1637insACACA (p.Thr546AsnfsTer?) c.1609_1610insACACA (p.Thr537AsnfsTer?) c.1663_1664insACACA (p.Thr555AsnfsTer?) n.612_613insACACA n.5943_5944insACACA c.1921_1922insACACA (p.Thr641AsnfsTer?) c.1747_1748insACACA (p.Thr583AsnfsTer?) c.1723_1724insACACA (p.Thr575AsnfsTer?) c.856_857insACACA (p.Thr286AsnfsTer?) c.769_770insACACA (p.Thr257AsnfsTer?) c.682_683insACACA (p.Thr228AsnfsTer?) n.591-9_591-8insACACA | |
17 | g.45996500A= | CA2262094997 | MAPT | c.571A= (p.Thr191=) c.484A= (p.Thr162=) c.658A= (p.Thr220=) n.522A= c.1834A= (p.Thr612=) c.1636A= (p.Thr546=) c.1609A= (p.Thr537=) c.1663A= (p.Thr555=) n.612A= n.5943A= c.1921A= (p.Thr641=) c.1747A= (p.Thr583=) c.1723A= (p.Thr575=) c.856A= (p.Thr286=) c.769A= (p.Thr257=) c.682A= (p.Thr228=) n.591-9A= | |
17 | g.45996500A>C | CA399978131 | MAPT | c.571A>C (p.Thr191Pro) c.484A>C (p.Thr162Pro) c.658A>C (p.Thr220Pro) n.522A>C c.1834A>C (p.Thr612Pro) c.1636A>C (p.Thr546Pro) c.1609A>C (p.Thr537Pro) c.1663A>C (p.Thr555Pro) n.612A>C n.5943A>C c.1921A>C (p.Thr641Pro) c.1747A>C (p.Thr583Pro) c.1723A>C (p.Thr575Pro) c.856A>C (p.Thr286Pro) c.769A>C (p.Thr257Pro) c.682A>C (p.Thr228Pro) n.591-9A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996500A>G | CA399978132 | MAPT | c.571A>G (p.Thr191Ala) c.484A>G (p.Thr162Ala) c.658A>G (p.Thr220Ala) n.522A>G c.1834A>G (p.Thr612Ala) c.1636A>G (p.Thr546Ala) c.1609A>G (p.Thr537Ala) c.1663A>G (p.Thr555Ala) n.612A>G n.5943A>G c.1921A>G (p.Thr641Ala) c.1747A>G (p.Thr583Ala) c.1723A>G (p.Thr575Ala) c.856A>G (p.Thr286Ala) c.769A>G (p.Thr257Ala) c.682A>G (p.Thr228Ala) n.591-9A>G | |
17 | g.45996500A>T | CA399978133 | MAPT | c.571A>T (p.Thr191Ser) c.484A>T (p.Thr162Ser) c.658A>T (p.Thr220Ser) n.522A>T c.1834A>T (p.Thr612Ser) c.1636A>T (p.Thr546Ser) c.1609A>T (p.Thr537Ser) c.1663A>T (p.Thr555Ser) n.612A>T n.5943A>T c.1921A>T (p.Thr641Ser) c.1747A>T (p.Thr583Ser) c.1723A>T (p.Thr575Ser) c.856A>T (p.Thr286Ser) c.769A>T (p.Thr257Ser) c.682A>T (p.Thr228Ser) n.591-9A>T | |
17 | g.45996501C>A | CA399978136 | MAPT | c.572C>A (p.Thr191Asn) c.485C>A (p.Thr162Asn) c.659C>A (p.Thr220Asn) n.523C>A c.1835C>A (p.Thr612Asn) c.1637C>A (p.Thr546Asn) c.1610C>A (p.Thr537Asn) c.1664C>A (p.Thr555Asn) n.613C>A n.5944C>A c.1922C>A (p.Thr641Asn) c.1748C>A (p.Thr583Asn) c.1724C>A (p.Thr575Asn) c.857C>A (p.Thr286Asn) c.770C>A (p.Thr257Asn) c.683C>A (p.Thr228Asn) n.591-8C>A | |
17 | g.45996501C= | CA2262094998 | MAPT | c.572C= (p.Thr191=) c.485C= (p.Thr162=) c.659C= (p.Thr220=) n.523C= c.1835C= (p.Thr612=) c.1637C= (p.Thr546=) c.1610C= (p.Thr537=) c.1664C= (p.Thr555=) n.613C= n.5944C= c.1922C= (p.Thr641=) c.1748C= (p.Thr583=) c.1724C= (p.Thr575=) c.857C= (p.Thr286=) c.770C= (p.Thr257=) c.683C= (p.Thr228=) n.591-8C= | |
17 | g.45996501C>G | CA399978135 | MAPT | c.572C>G (p.Thr191Ser) c.485C>G (p.Thr162Ser) c.659C>G (p.Thr220Ser) n.523C>G c.1835C>G (p.Thr612Ser) c.1637C>G (p.Thr546Ser) c.1610C>G (p.Thr537Ser) c.1664C>G (p.Thr555Ser) n.613C>G n.5944C>G c.1922C>G (p.Thr641Ser) c.1748C>G (p.Thr583Ser) c.1724C>G (p.Thr575Ser) c.857C>G (p.Thr286Ser) c.770C>G (p.Thr257Ser) c.683C>G (p.Thr228Ser) n.591-8C>G | |
17 | g.45996501C>T | CA399978134 | MAPT | c.572C>T (p.Thr191Ile) c.485C>T (p.Thr162Ile) c.659C>T (p.Thr220Ile) n.523C>T c.1835C>T (p.Thr612Ile) c.1637C>T (p.Thr546Ile) c.1610C>T (p.Thr537Ile) c.1664C>T (p.Thr555Ile) n.613C>T n.5944C>T c.1922C>T (p.Thr641Ile) c.1748C>T (p.Thr583Ile) c.1724C>T (p.Thr575Ile) c.857C>T (p.Thr286Ile) c.770C>T (p.Thr257Ile) c.683C>T (p.Thr228Ile) n.591-8C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996502C>A | CA500643970 | MAPT | c.573C>A (p.Thr191=) c.486C>A (p.Thr162=) c.660C>A (p.Thr220=) n.524C>A c.1836C>A (p.Thr612=) c.1638C>A (p.Thr546=) c.1611C>A (p.Thr537=) c.1665C>A (p.Thr555=) n.614C>A n.5945C>A c.1923C>A (p.Thr641=) c.1749C>A (p.Thr583=) c.1725C>A (p.Thr575=) c.858C>A (p.Thr286=) c.771C>A (p.Thr257=) c.684C>A (p.Thr228=) n.591-7C>A | gnomAD v4 |
17 | g.45996502C>G | CA500643971 | MAPT | c.573C>G (p.Thr191=) c.486C>G (p.Thr162=) c.660C>G (p.Thr220=) n.524C>G c.1836C>G (p.Thr612=) c.1638C>G (p.Thr546=) c.1611C>G (p.Thr537=) c.1665C>G (p.Thr555=) n.614C>G n.5945C>G c.1923C>G (p.Thr641=) c.1749C>G (p.Thr583=) c.1725C>G (p.Thr575=) c.858C>G (p.Thr286=) c.771C>G (p.Thr257=) c.684C>G (p.Thr228=) n.591-7C>G | |
17 | g.45996502C>T | CA500643969 | MAPT | c.573C>T (p.Thr191=) c.486C>T (p.Thr162=) c.660C>T (p.Thr220=) n.524C>T c.1836C>T (p.Thr612=) c.1638C>T (p.Thr546=) c.1611C>T (p.Thr537=) c.1665C>T (p.Thr555=) n.614C>T n.5945C>T c.1923C>T (p.Thr641=) c.1749C>T (p.Thr583=) c.1725C>T (p.Thr575=) c.858C>T (p.Thr286=) c.771C>T (p.Thr257=) c.684C>T (p.Thr228=) n.591-7C>T | |
17 | g.45996503C>A | CA500643972 | MAPT | c.574C>A (p.Arg192=) c.487C>A (p.Arg163=) c.661C>A (p.Arg221=) n.525C>A c.1837C>A (p.Arg613=) c.1639C>A (p.Arg547=) c.1612C>A (p.Arg538=) c.1666C>A (p.Arg556=) n.615C>A n.5946C>A c.1924C>A (p.Arg642=) c.1750C>A (p.Arg584=) c.1726C>A (p.Arg576=) c.859C>A (p.Arg287=) c.772C>A (p.Arg258=) c.685C>A (p.Arg229=) n.591-6C>A | |
17 | g.45996503C= | CA2262094999 | MAPT | c.574C= (p.Arg192=) c.487C= (p.Arg163=) c.661C= (p.Arg221=) n.525C= c.1837C= (p.Arg613=) c.1639C= (p.Arg547=) c.1612C= (p.Arg538=) c.1666C= (p.Arg556=) n.615C= n.5946C= c.1924C= (p.Arg642=) c.1750C= (p.Arg584=) c.1726C= (p.Arg576=) c.859C= (p.Arg287=) c.772C= (p.Arg258=) c.685C= (p.Arg229=) n.591-6C= | |
17 | g.45996503C>G | CA399978137 | MAPT | c.574C>G (p.Arg192Gly) c.487C>G (p.Arg163Gly) c.661C>G (p.Arg221Gly) n.525C>G c.1837C>G (p.Arg613Gly) c.1639C>G (p.Arg547Gly) c.1612C>G (p.Arg538Gly) c.1666C>G (p.Arg556Gly) n.615C>G n.5946C>G c.1924C>G (p.Arg642Gly) c.1750C>G (p.Arg584Gly) c.1726C>G (p.Arg576Gly) c.859C>G (p.Arg287Gly) c.772C>G (p.Arg258Gly) c.685C>G (p.Arg229Gly) n.591-6C>G | |
17 | g.45996503C>T | CA8618046 | MAPT | c.574C>T (p.Arg192Trp) c.487C>T (p.Arg163Trp) c.661C>T (p.Arg221Trp) n.525C>T c.1837C>T (p.Arg613Trp) c.1639C>T (p.Arg547Trp) c.1612C>T (p.Arg538Trp) c.1666C>T (p.Arg556Trp) n.615C>T n.5946C>T c.1924C>T (p.Arg642Trp) c.1750C>T (p.Arg584Trp) c.1726C>T (p.Arg576Trp) c.859C>T (p.Arg287Trp) c.772C>T (p.Arg258Trp) c.685C>T (p.Arg229Trp) n.591-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996504G>A | CA8618047 | MAPT | c.575G>A (p.Arg192Gln) c.488G>A (p.Arg163Gln) c.662G>A (p.Arg221Gln) n.526G>A c.1838G>A (p.Arg613Gln) c.1640G>A (p.Arg547Gln) c.1613G>A (p.Arg538Gln) c.1667G>A (p.Arg556Gln) n.616G>A n.5947G>A c.1925G>A (p.Arg642Gln) c.1751G>A (p.Arg584Gln) c.1727G>A (p.Arg576Gln) c.860G>A (p.Arg287Gln) c.773G>A (p.Arg258Gln) c.686G>A (p.Arg229Gln) n.591-5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996504G>C | CA399978138 | MAPT | c.575G>C (p.Arg192Pro) c.488G>C (p.Arg163Pro) c.662G>C (p.Arg221Pro) n.526G>C c.1838G>C (p.Arg613Pro) c.1640G>C (p.Arg547Pro) c.1613G>C (p.Arg538Pro) c.1667G>C (p.Arg556Pro) n.616G>C n.5947G>C c.1925G>C (p.Arg642Pro) c.1751G>C (p.Arg584Pro) c.1727G>C (p.Arg576Pro) c.860G>C (p.Arg287Pro) c.773G>C (p.Arg258Pro) c.686G>C (p.Arg229Pro) n.591-5G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996504G= | CA2262095000 | MAPT | c.575G= (p.Arg192=) c.488G= (p.Arg163=) c.662G= (p.Arg221=) n.526G= c.1838G= (p.Arg613=) c.1640G= (p.Arg547=) c.1613G= (p.Arg538=) c.1667G= (p.Arg556=) n.616G= n.5947G= c.1925G= (p.Arg642=) c.1751G= (p.Arg584=) c.1727G= (p.Arg576=) c.860G= (p.Arg287=) c.773G= (p.Arg258=) c.686G= (p.Arg229=) n.591-5G= | |
17 | g.45996504G>T | CA399978139 | MAPT | c.575G>T (p.Arg192Leu) c.488G>T (p.Arg163Leu) c.662G>T (p.Arg221Leu) n.526G>T c.1838G>T (p.Arg613Leu) c.1640G>T (p.Arg547Leu) c.1613G>T (p.Arg538Leu) c.1667G>T (p.Arg556Leu) n.616G>T n.5947G>T c.1925G>T (p.Arg642Leu) c.1751G>T (p.Arg584Leu) c.1727G>T (p.Arg576Leu) c.860G>T (p.Arg287Leu) c.773G>T (p.Arg258Leu) c.686G>T (p.Arg229Leu) n.591-5G>T | gnomAD v4 |
17 | g.45996505G>A | CA500643974 | MAPT | c.576G>A (p.Arg192=) c.489G>A (p.Arg163=) c.663G>A (p.Arg221=) n.527G>A c.1839G>A (p.Arg613=) c.1641G>A (p.Arg547=) c.1614G>A (p.Arg538=) c.1668G>A (p.Arg556=) n.617G>A n.5948G>A c.1926G>A (p.Arg642=) c.1752G>A (p.Arg584=) c.1728G>A (p.Arg576=) c.861G>A (p.Arg287=) c.774G>A (p.Arg258=) c.687G>A (p.Arg229=) n.591-4G>A | |
17 | g.45996505G>C | CA500643975 | MAPT | c.576G>C (p.Arg192=) c.489G>C (p.Arg163=) c.663G>C (p.Arg221=) n.527G>C c.1839G>C (p.Arg613=) c.1641G>C (p.Arg547=) c.1614G>C (p.Arg538=) c.1668G>C (p.Arg556=) n.617G>C n.5948G>C c.1926G>C (p.Arg642=) c.1752G>C (p.Arg584=) c.1728G>C (p.Arg576=) c.861G>C (p.Arg287=) c.774G>C (p.Arg258=) c.687G>C (p.Arg229=) n.591-4G>C | |
17 | g.45996505G>T | CA500643973 | MAPT | c.576G>T (p.Arg192=) c.489G>T (p.Arg163=) c.663G>T (p.Arg221=) n.527G>T c.1839G>T (p.Arg613=) c.1641G>T (p.Arg547=) c.1614G>T (p.Arg538=) c.1668G>T (p.Arg556=) n.617G>T n.5948G>T c.1926G>T (p.Arg642=) c.1752G>T (p.Arg584=) c.1728G>T (p.Arg576=) c.861G>T (p.Arg287=) c.774G>T (p.Arg258=) c.687G>T (p.Arg229=) n.591-4G>T | |
17 | g.45996506G>A | CA399978140 | MAPT | c.577G>A (p.Glu193Lys) c.490G>A (p.Glu164Lys) c.664G>A (p.Glu222Lys) n.528G>A c.1840G>A (p.Glu614Lys) c.1642G>A (p.Glu548Lys) c.1615G>A (p.Glu539Lys) c.1669G>A (p.Glu557Lys) n.618G>A n.5949G>A c.1927G>A (p.Glu643Lys) c.1753G>A (p.Glu585Lys) c.1729G>A (p.Glu577Lys) c.862G>A (p.Glu288Lys) c.775G>A (p.Glu259Lys) c.688G>A (p.Glu230Lys) n.591-3G>A | gnomAD v4 |
17 | g.45996506G>C | CA399978141 | MAPT | c.577G>C (p.Glu193Gln) c.490G>C (p.Glu164Gln) c.664G>C (p.Glu222Gln) n.528G>C c.1840G>C (p.Glu614Gln) c.1642G>C (p.Glu548Gln) c.1615G>C (p.Glu539Gln) c.1669G>C (p.Glu557Gln) n.618G>C n.5949G>C c.1927G>C (p.Glu643Gln) c.1753G>C (p.Glu585Gln) c.1729G>C (p.Glu577Gln) c.862G>C (p.Glu288Gln) c.775G>C (p.Glu259Gln) c.688G>C (p.Glu230Gln) n.591-3G>C | COSMIC COSMIC COSMIC |
17 | g.45996506G>T | CA399978142 | MAPT | c.577G>T (p.Glu193Ter) c.490G>T (p.Glu164Ter) c.664G>T (p.Glu222Ter) n.528G>T c.1840G>T (p.Glu614Ter) c.1642G>T (p.Glu548Ter) c.1615G>T (p.Glu539Ter) c.1669G>T (p.Glu557Ter) n.618G>T n.5949G>T c.1927G>T (p.Glu643Ter) c.1753G>T (p.Glu585Ter) c.1729G>T (p.Glu577Ter) c.862G>T (p.Glu288Ter) c.775G>T (p.Glu259Ter) c.688G>T (p.Glu230Ter) n.591-3G>T | |
17 | g.45996507A= | CA2262095001 | MAPT | c.578A= (p.Glu193=) c.491A= (p.Glu164=) c.665A= (p.Glu222=) n.529A= c.1841A= (p.Glu614=) c.1643A= (p.Glu548=) c.1616A= (p.Glu539=) c.1670A= (p.Glu557=) n.619A= n.5950A= c.1928A= (p.Glu643=) c.1754A= (p.Glu585=) c.1730A= (p.Glu577=) c.863A= (p.Glu288=) c.776A= (p.Glu259=) c.689A= (p.Glu230=) n.591-2A= | |
17 | g.45996507A>C | CA399978143 | MAPT | c.578A>C (p.Glu193Ala) c.491A>C (p.Glu164Ala) c.665A>C (p.Glu222Ala) n.529A>C c.1841A>C (p.Glu614Ala) c.1643A>C (p.Glu548Ala) c.1616A>C (p.Glu539Ala) c.1670A>C (p.Glu557Ala) n.619A>C n.5950A>C c.1928A>C (p.Glu643Ala) c.1754A>C (p.Glu585Ala) c.1730A>C (p.Glu577Ala) c.863A>C (p.Glu288Ala) c.776A>C (p.Glu259Ala) c.689A>C (p.Glu230Ala) n.591-2A>C | gnomAD v4 |
17 | g.45996507A>G | CA399978144 | MAPT | c.578A>G (p.Glu193Gly) c.491A>G (p.Glu164Gly) c.665A>G (p.Glu222Gly) n.529A>G c.1841A>G (p.Glu614Gly) c.1643A>G (p.Glu548Gly) c.1616A>G (p.Glu539Gly) c.1670A>G (p.Glu557Gly) n.619A>G n.5950A>G c.1928A>G (p.Glu643Gly) c.1754A>G (p.Glu585Gly) c.1730A>G (p.Glu577Gly) c.863A>G (p.Glu288Gly) c.776A>G (p.Glu259Gly) c.689A>G (p.Glu230Gly) n.591-2A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996507A>T | CA399978145 | MAPT | c.578A>T (p.Glu193Val) c.491A>T (p.Glu164Val) c.665A>T (p.Glu222Val) n.529A>T c.1841A>T (p.Glu614Val) c.1643A>T (p.Glu548Val) c.1616A>T (p.Glu539Val) c.1670A>T (p.Glu557Val) n.619A>T n.5950A>T c.1928A>T (p.Glu643Val) c.1754A>T (p.Glu585Val) c.1730A>T (p.Glu577Val) c.863A>T (p.Glu288Val) c.776A>T (p.Glu259Val) c.689A>T (p.Glu230Val) n.591-2A>T | gnomAD v4 |
17 | g.45996508G>A | CA500643976 | MAPT | c.579G>A (p.Glu193=) c.492G>A (p.Glu164=) c.666G>A (p.Glu222=) n.530G>A c.1842G>A (p.Glu614=) c.1644G>A (p.Glu548=) c.1617G>A (p.Glu539=) c.1671G>A (p.Glu557=) n.620G>A n.5951G>A c.1929G>A (p.Glu643=) c.1755G>A (p.Glu585=) c.1731G>A (p.Glu577=) c.864G>A (p.Glu288=) c.777G>A (p.Glu259=) c.690G>A (p.Glu230=) n.591-1G>A | |
17 | g.45996508G>C | CA399978146 | MAPT | c.579G>C (p.Glu193Asp) c.492G>C (p.Glu164Asp) c.666G>C (p.Glu222Asp) n.530G>C c.1842G>C (p.Glu614Asp) c.1644G>C (p.Glu548Asp) c.1617G>C (p.Glu539Asp) c.1671G>C (p.Glu557Asp) n.620G>C n.5951G>C c.1929G>C (p.Glu643Asp) c.1755G>C (p.Glu585Asp) c.1731G>C (p.Glu577Asp) c.864G>C (p.Glu288Asp) c.777G>C (p.Glu259Asp) c.690G>C (p.Glu230Asp) n.591-1G>C | |
17 | g.45996508G>T | CA399978147 | MAPT | c.579G>T (p.Glu193Asp) c.492G>T (p.Glu164Asp) c.666G>T (p.Glu222Asp) n.530G>T c.1842G>T (p.Glu614Asp) c.1644G>T (p.Glu548Asp) c.1617G>T (p.Glu539Asp) c.1671G>T (p.Glu557Asp) n.620G>T n.5951G>T c.1929G>T (p.Glu643Asp) c.1755G>T (p.Glu585Asp) c.1731G>T (p.Glu577Asp) c.864G>T (p.Glu288Asp) c.777G>T (p.Glu259Asp) c.690G>T (p.Glu230Asp) n.591-1G>T | |
17 | g.45996509C>A | CA399978148 | MAPT | c.580C>A (p.Pro194Thr) c.493C>A (p.Pro165Thr) c.667C>A (p.Pro223Thr) n.531C>A c.1843C>A (p.Pro615Thr) c.1645C>A (p.Pro549Thr) c.1618C>A (p.Pro540Thr) c.1672C>A (p.Pro558Thr) n.621C>A n.5952C>A c.1930C>A (p.Pro644Thr) c.1756C>A (p.Pro586Thr) c.1732C>A (p.Pro578Thr) c.865C>A (p.Pro289Thr) c.778C>A (p.Pro260Thr) c.691C>A (p.Pro231Thr) n.591C>A | |
17 | g.45996509C>G | CA399978149 | MAPT | c.580C>G (p.Pro194Ala) c.493C>G (p.Pro165Ala) c.667C>G (p.Pro223Ala) n.531C>G c.1843C>G (p.Pro615Ala) c.1645C>G (p.Pro549Ala) c.1618C>G (p.Pro540Ala) c.1672C>G (p.Pro558Ala) n.621C>G n.5952C>G c.1930C>G (p.Pro644Ala) c.1756C>G (p.Pro586Ala) c.1732C>G (p.Pro578Ala) c.865C>G (p.Pro289Ala) c.778C>G (p.Pro260Ala) c.691C>G (p.Pro231Ala) n.591C>G | |
17 | g.45996509C>T | CA399978150 | MAPT | c.580C>T (p.Pro194Ser) c.493C>T (p.Pro165Ser) c.667C>T (p.Pro223Ser) n.531C>T c.1843C>T (p.Pro615Ser) c.1645C>T (p.Pro549Ser) c.1618C>T (p.Pro540Ser) c.1672C>T (p.Pro558Ser) n.621C>T n.5952C>T c.1930C>T (p.Pro644Ser) c.1756C>T (p.Pro586Ser) c.1732C>T (p.Pro578Ser) c.865C>T (p.Pro289Ser) c.778C>T (p.Pro260Ser) c.691C>T (p.Pro231Ser) n.591C>T | |
17 | g.45996510C>A | CA399978153 | MAPT | c.581C>A (p.Pro194His) c.494C>A (p.Pro165His) c.668C>A (p.Pro223His) n.532C>A c.1844C>A (p.Pro615His) c.1646C>A (p.Pro549His) c.1619C>A (p.Pro540His) c.1673C>A (p.Pro558His) n.622C>A n.5953C>A c.1931C>A (p.Pro644His) c.1757C>A (p.Pro586His) c.1733C>A (p.Pro578His) c.866C>A (p.Pro289His) c.779C>A (p.Pro260His) c.692C>A (p.Pro231His) n.592C>A | |
17 | g.45996510C>G | CA399978151 | MAPT | c.581C>G (p.Pro194Arg) c.494C>G (p.Pro165Arg) c.668C>G (p.Pro223Arg) n.532C>G c.1844C>G (p.Pro615Arg) c.1646C>G (p.Pro549Arg) c.1619C>G (p.Pro540Arg) c.1673C>G (p.Pro558Arg) n.622C>G n.5953C>G c.1931C>G (p.Pro644Arg) c.1757C>G (p.Pro586Arg) c.1733C>G (p.Pro578Arg) c.866C>G (p.Pro289Arg) c.779C>G (p.Pro260Arg) c.692C>G (p.Pro231Arg) n.592C>G | |
17 | g.45996510C>T | CA399978152 | MAPT | c.581C>T (p.Pro194Leu) c.494C>T (p.Pro165Leu) c.668C>T (p.Pro223Leu) n.532C>T c.1844C>T (p.Pro615Leu) c.1646C>T (p.Pro549Leu) c.1619C>T (p.Pro540Leu) c.1673C>T (p.Pro558Leu) n.622C>T n.5953C>T c.1931C>T (p.Pro644Leu) c.1757C>T (p.Pro586Leu) c.1733C>T (p.Pro578Leu) c.866C>T (p.Pro289Leu) c.779C>T (p.Pro260Leu) c.692C>T (p.Pro231Leu) n.592C>T | |
17 | g.45996511C>A | CA500643977 | MAPT | c.582C>A (p.Pro194=) c.495C>A (p.Pro165=) c.669C>A (p.Pro223=) n.533C>A c.1845C>A (p.Pro615=) c.1647C>A (p.Pro549=) c.1620C>A (p.Pro540=) c.1674C>A (p.Pro558=) n.623C>A n.5954C>A c.1932C>A (p.Pro644=) c.1758C>A (p.Pro586=) c.1734C>A (p.Pro578=) c.867C>A (p.Pro289=) c.780C>A (p.Pro260=) c.693C>A (p.Pro231=) n.593C>A | |
17 | g.45996511C= | CA2262095002 | MAPT | c.582C= (p.Pro194=) c.495C= (p.Pro165=) c.669C= (p.Pro223=) n.533C= c.1845C= (p.Pro615=) c.1647C= (p.Pro549=) c.1620C= (p.Pro540=) c.1674C= (p.Pro558=) n.623C= n.5954C= c.1932C= (p.Pro644=) c.1758C= (p.Pro586=) c.1734C= (p.Pro578=) c.867C= (p.Pro289=) c.780C= (p.Pro260=) c.693C= (p.Pro231=) n.593C= | |
17 | g.45996511C>G | CA291107185 | MAPT | c.582C>G (p.Pro194=) c.495C>G (p.Pro165=) c.669C>G (p.Pro223=) n.533C>G c.1845C>G (p.Pro615=) c.1647C>G (p.Pro549=) c.1620C>G (p.Pro540=) c.1674C>G (p.Pro558=) n.623C>G n.5954C>G c.1932C>G (p.Pro644=) c.1758C>G (p.Pro586=) c.1734C>G (p.Pro578=) c.867C>G (p.Pro289=) c.780C>G (p.Pro260=) c.693C>G (p.Pro231=) n.593C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996511C>T | CA500643978 | MAPT | c.582C>T (p.Pro194=) c.495C>T (p.Pro165=) c.669C>T (p.Pro223=) n.533C>T c.1845C>T (p.Pro615=) c.1647C>T (p.Pro549=) c.1620C>T (p.Pro540=) c.1674C>T (p.Pro558=) n.623C>T n.5954C>T c.1932C>T (p.Pro644=) c.1758C>T (p.Pro586=) c.1734C>T (p.Pro578=) c.867C>T (p.Pro289=) c.780C>T (p.Pro260=) c.693C>T (p.Pro231=) n.593C>T | |
17 | g.45996512A>C | CA399978154 | MAPT | c.583A>C (p.Lys195Gln) c.496A>C (p.Lys166Gln) c.670A>C (p.Lys224Gln) n.534A>C c.1846A>C (p.Lys616Gln) c.1648A>C (p.Lys550Gln) c.1621A>C (p.Lys541Gln) c.1675A>C (p.Lys559Gln) n.624A>C n.5955A>C c.1933A>C (p.Lys645Gln) c.1759A>C (p.Lys587Gln) c.1735A>C (p.Lys579Gln) c.868A>C (p.Lys290Gln) c.781A>C (p.Lys261Gln) c.694A>C (p.Lys232Gln) n.594A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.45996512A>G | CA399978155 | MAPT | c.583A>G (p.Lys195Glu) c.496A>G (p.Lys166Glu) c.670A>G (p.Lys224Glu) n.534A>G c.1846A>G (p.Lys616Glu) c.1648A>G (p.Lys550Glu) c.1621A>G (p.Lys541Glu) c.1675A>G (p.Lys559Glu) n.624A>G n.5955A>G c.1933A>G (p.Lys645Glu) c.1759A>G (p.Lys587Glu) c.1735A>G (p.Lys579Glu) c.868A>G (p.Lys290Glu) c.781A>G (p.Lys261Glu) c.694A>G (p.Lys232Glu) n.594A>G | |
17 | g.45996512A>T | CA399978156 | MAPT | c.583A>T (p.Lys195Ter) c.496A>T (p.Lys166Ter) c.670A>T (p.Lys224Ter) n.534A>T c.1846A>T (p.Lys616Ter) c.1648A>T (p.Lys550Ter) c.1621A>T (p.Lys541Ter) c.1675A>T (p.Lys559Ter) n.624A>T n.5955A>T c.1933A>T (p.Lys645Ter) c.1759A>T (p.Lys587Ter) c.1735A>T (p.Lys579Ter) c.868A>T (p.Lys290Ter) c.781A>T (p.Lys261Ter) c.694A>T (p.Lys232Ter) n.594A>T | gnomAD v4 |
17 | g.45996513A>C | CA399978157 | MAPT | c.584A>C (p.Lys195Thr) c.497A>C (p.Lys166Thr) c.671A>C (p.Lys224Thr) n.535A>C c.1847A>C (p.Lys616Thr) c.1649A>C (p.Lys550Thr) c.1622A>C (p.Lys541Thr) c.1676A>C (p.Lys559Thr) n.625A>C n.5956A>C c.1934A>C (p.Lys645Thr) c.1760A>C (p.Lys587Thr) c.1736A>C (p.Lys579Thr) c.869A>C (p.Lys290Thr) c.782A>C (p.Lys261Thr) c.695A>C (p.Lys232Thr) n.595A>C | |
17 | g.45996513A>G | CA399978158 | MAPT | c.584A>G (p.Lys195Arg) c.497A>G (p.Lys166Arg) c.671A>G (p.Lys224Arg) n.535A>G c.1847A>G (p.Lys616Arg) c.1649A>G (p.Lys550Arg) c.1622A>G (p.Lys541Arg) c.1676A>G (p.Lys559Arg) n.625A>G n.5956A>G c.1934A>G (p.Lys645Arg) c.1760A>G (p.Lys587Arg) c.1736A>G (p.Lys579Arg) c.869A>G (p.Lys290Arg) c.782A>G (p.Lys261Arg) c.695A>G (p.Lys232Arg) n.595A>G | |
17 | g.45996513A>T | CA399978159 | MAPT | c.584A>T (p.Lys195Met) c.497A>T (p.Lys166Met) c.671A>T (p.Lys224Met) n.535A>T c.1847A>T (p.Lys616Met) c.1649A>T (p.Lys550Met) c.1622A>T (p.Lys541Met) c.1676A>T (p.Lys559Met) n.625A>T n.5956A>T c.1934A>T (p.Lys645Met) c.1760A>T (p.Lys587Met) c.1736A>T (p.Lys579Met) c.869A>T (p.Lys290Met) c.782A>T (p.Lys261Met) c.695A>T (p.Lys232Met) n.595A>T | |
17 | g.45996514G>A | CA500643979 | MAPT | c.585G>A (p.Lys195=) c.498G>A (p.Lys166=) c.672G>A (p.Lys224=) n.536G>A c.1848G>A (p.Lys616=) c.1650G>A (p.Lys550=) c.1623G>A (p.Lys541=) c.1677G>A (p.Lys559=) n.626G>A n.5957G>A c.1935G>A (p.Lys645=) c.1761G>A (p.Lys587=) c.1737G>A (p.Lys579=) c.870G>A (p.Lys290=) c.783G>A (p.Lys261=) c.696G>A (p.Lys232=) n.596G>A | |
17 | g.45996514G>C | CA399978160 | MAPT | c.585G>C (p.Lys195Asn) c.498G>C (p.Lys166Asn) c.672G>C (p.Lys224Asn) n.536G>C c.1848G>C (p.Lys616Asn) c.1650G>C (p.Lys550Asn) c.1623G>C (p.Lys541Asn) c.1677G>C (p.Lys559Asn) n.626G>C n.5957G>C c.1935G>C (p.Lys645Asn) c.1761G>C (p.Lys587Asn) c.1737G>C (p.Lys579Asn) c.870G>C (p.Lys290Asn) c.783G>C (p.Lys261Asn) c.696G>C (p.Lys232Asn) n.596G>C | |
17 | g.45996514G>T | CA399978161 | MAPT | c.585G>T (p.Lys195Asn) c.498G>T (p.Lys166Asn) c.672G>T (p.Lys224Asn) n.536G>T c.1848G>T (p.Lys616Asn) c.1650G>T (p.Lys550Asn) c.1623G>T (p.Lys541Asn) c.1677G>T (p.Lys559Asn) n.626G>T n.5957G>T c.1935G>T (p.Lys645Asn) c.1761G>T (p.Lys587Asn) c.1737G>T (p.Lys579Asn) c.870G>T (p.Lys290Asn) c.783G>T (p.Lys261Asn) c.696G>T (p.Lys232Asn) n.596G>T | |
17 | g.45996515A>C | CA399978162 | MAPT | c.586A>C (p.Lys196Gln) c.499A>C (p.Lys167Gln) c.673A>C (p.Lys225Gln) n.537A>C c.1849A>C (p.Lys617Gln) c.1651A>C (p.Lys551Gln) c.1624A>C (p.Lys542Gln) c.1678A>C (p.Lys560Gln) n.627A>C n.5958A>C c.1936A>C (p.Lys646Gln) c.1762A>C (p.Lys588Gln) c.1738A>C (p.Lys580Gln) c.871A>C (p.Lys291Gln) c.784A>C (p.Lys262Gln) c.697A>C (p.Lys233Gln) n.597A>C | |
17 | g.45996515A>G | CA399978163 | MAPT | c.586A>G (p.Lys196Glu) c.499A>G (p.Lys167Glu) c.673A>G (p.Lys225Glu) n.537A>G c.1849A>G (p.Lys617Glu) c.1651A>G (p.Lys551Glu) c.1624A>G (p.Lys542Glu) c.1678A>G (p.Lys560Glu) n.627A>G n.5958A>G c.1936A>G (p.Lys646Glu) c.1762A>G (p.Lys588Glu) c.1738A>G (p.Lys580Glu) c.871A>G (p.Lys291Glu) c.784A>G (p.Lys262Glu) c.697A>G (p.Lys233Glu) n.597A>G | |
17 | g.45996515A>T | CA399978164 | MAPT | c.586A>T (p.Lys196Ter) c.499A>T (p.Lys167Ter) c.673A>T (p.Lys225Ter) n.537A>T c.1849A>T (p.Lys617Ter) c.1651A>T (p.Lys551Ter) c.1624A>T (p.Lys542Ter) c.1678A>T (p.Lys560Ter) n.627A>T n.5958A>T c.1936A>T (p.Lys646Ter) c.1762A>T (p.Lys588Ter) c.1738A>T (p.Lys580Ter) c.871A>T (p.Lys291Ter) c.784A>T (p.Lys262Ter) c.697A>T (p.Lys233Ter) n.597A>T | |
17 | g.45996516A>C | CA399978166 | MAPT | c.587A>C (p.Lys196Thr) c.500A>C (p.Lys167Thr) c.674A>C (p.Lys225Thr) n.538A>C c.1850A>C (p.Lys617Thr) c.1652A>C (p.Lys551Thr) c.1625A>C (p.Lys542Thr) c.1679A>C (p.Lys560Thr) n.628A>C n.5959A>C c.1937A>C (p.Lys646Thr) c.1763A>C (p.Lys588Thr) c.1739A>C (p.Lys580Thr) c.872A>C (p.Lys291Thr) c.785A>C (p.Lys262Thr) c.698A>C (p.Lys233Thr) n.598A>C | |
17 | g.45996516A>G | CA399978167 | MAPT | c.587A>G (p.Lys196Arg) c.500A>G (p.Lys167Arg) c.674A>G (p.Lys225Arg) n.538A>G c.1850A>G (p.Lys617Arg) c.1652A>G (p.Lys551Arg) c.1625A>G (p.Lys542Arg) c.1679A>G (p.Lys560Arg) n.628A>G n.5959A>G c.1937A>G (p.Lys646Arg) c.1763A>G (p.Lys588Arg) c.1739A>G (p.Lys580Arg) c.872A>G (p.Lys291Arg) c.785A>G (p.Lys262Arg) c.698A>G (p.Lys233Arg) n.598A>G | |
17 | g.45996516A>T | CA399978165 | MAPT | c.587A>T (p.Lys196Met) c.500A>T (p.Lys167Met) c.674A>T (p.Lys225Met) n.538A>T c.1850A>T (p.Lys617Met) c.1652A>T (p.Lys551Met) c.1625A>T (p.Lys542Met) c.1679A>T (p.Lys560Met) n.628A>T n.5959A>T c.1937A>T (p.Lys646Met) c.1763A>T (p.Lys588Met) c.1739A>T (p.Lys580Met) c.872A>T (p.Lys291Met) c.785A>T (p.Lys262Met) c.698A>T (p.Lys233Met) n.598A>T | |
17 | g.45996517G>A | CA500643980 | MAPT | c.588G>A (p.Lys196=) c.501G>A (p.Lys167=) c.675G>A (p.Lys225=) n.539G>A c.1851G>A (p.Lys617=) c.1653G>A (p.Lys551=) c.1626G>A (p.Lys542=) c.1680G>A (p.Lys560=) n.629G>A n.5960G>A c.1938G>A (p.Lys646=) c.1764G>A (p.Lys588=) c.1740G>A (p.Lys580=) c.873G>A (p.Lys291=) c.786G>A (p.Lys262=) c.699G>A (p.Lys233=) n.599G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996517G>C | CA399978168 | MAPT | c.588G>C (p.Lys196Asn) c.501G>C (p.Lys167Asn) c.675G>C (p.Lys225Asn) n.539G>C c.1851G>C (p.Lys617Asn) c.1653G>C (p.Lys551Asn) c.1626G>C (p.Lys542Asn) c.1680G>C (p.Lys560Asn) n.629G>C n.5960G>C c.1938G>C (p.Lys646Asn) c.1764G>C (p.Lys588Asn) c.1740G>C (p.Lys580Asn) c.873G>C (p.Lys291Asn) c.786G>C (p.Lys262Asn) c.699G>C (p.Lys233Asn) n.599G>C | |
17 | g.45996517G= | CA2262095003 | MAPT | c.588G= (p.Lys196=) c.501G= (p.Lys167=) c.675G= (p.Lys225=) n.539G= c.1851G= (p.Lys617=) c.1653G= (p.Lys551=) c.1626G= (p.Lys542=) c.1680G= (p.Lys560=) n.629G= n.5960G= c.1938G= (p.Lys646=) c.1764G= (p.Lys588=) c.1740G= (p.Lys580=) c.873G= (p.Lys291=) c.786G= (p.Lys262=) c.699G= (p.Lys233=) n.599G= | |
17 | g.45996517G>T | CA399978169 | MAPT | c.588G>T (p.Lys196Asn) c.501G>T (p.Lys167Asn) c.675G>T (p.Lys225Asn) n.539G>T c.1851G>T (p.Lys617Asn) c.1653G>T (p.Lys551Asn) c.1626G>T (p.Lys542Asn) c.1680G>T (p.Lys560Asn) n.629G>T n.5960G>T c.1938G>T (p.Lys646Asn) c.1764G>T (p.Lys588Asn) c.1740G>T (p.Lys580Asn) c.873G>T (p.Lys291Asn) c.786G>T (p.Lys262Asn) c.699G>T (p.Lys233Asn) n.599G>T | |
17 | g.45996518G>A | CA399978170 | MAPT | c.589G>A (p.Val197Met) c.502G>A (p.Val168Met) c.676G>A (p.Val226Met) n.540G>A c.1852G>A (p.Val618Met) c.1654G>A (p.Val552Met) c.1627G>A (p.Val543Met) c.1681G>A (p.Val561Met) n.630G>A n.5961G>A c.1939G>A (p.Val647Met) c.1765G>A (p.Val589Met) c.1741G>A (p.Val581Met) c.874G>A (p.Val292Met) c.787G>A (p.Val263Met) c.700G>A (p.Val234Met) n.600G>A | |
17 | g.45996518G>C | CA399978171 | MAPT | c.589G>C (p.Val197Leu) c.502G>C (p.Val168Leu) c.676G>C (p.Val226Leu) n.540G>C c.1852G>C (p.Val618Leu) c.1654G>C (p.Val552Leu) c.1627G>C (p.Val543Leu) c.1681G>C (p.Val561Leu) n.630G>C n.5961G>C c.1939G>C (p.Val647Leu) c.1765G>C (p.Val589Leu) c.1741G>C (p.Val581Leu) c.874G>C (p.Val292Leu) c.787G>C (p.Val263Leu) c.700G>C (p.Val234Leu) n.600G>C | |
17 | g.45996518G>T | CA399978172 | MAPT | c.589G>T (p.Val197Leu) c.502G>T (p.Val168Leu) c.676G>T (p.Val226Leu) n.540G>T c.1852G>T (p.Val618Leu) c.1654G>T (p.Val552Leu) c.1627G>T (p.Val543Leu) c.1681G>T (p.Val561Leu) n.630G>T n.5961G>T c.1939G>T (p.Val647Leu) c.1765G>T (p.Val589Leu) c.1741G>T (p.Val581Leu) c.874G>T (p.Val292Leu) c.787G>T (p.Val263Leu) c.700G>T (p.Val234Leu) n.600G>T | |
17 | g.45996519T>A | CA399978173 | MAPT | c.590T>A (p.Val197Glu) c.503T>A (p.Val168Glu) c.677T>A (p.Val226Glu) n.541T>A c.1853T>A (p.Val618Glu) c.1655T>A (p.Val552Glu) c.1628T>A (p.Val543Glu) c.1682T>A (p.Val561Glu) n.631T>A n.5962T>A c.1940T>A (p.Val647Glu) c.1766T>A (p.Val589Glu) c.1742T>A (p.Val581Glu) c.875T>A (p.Val292Glu) c.788T>A (p.Val263Glu) c.701T>A (p.Val234Glu) n.601T>A | |
17 | g.45996519T>C | CA399978174 | MAPT | c.590T>C (p.Val197Ala) c.503T>C (p.Val168Ala) c.677T>C (p.Val226Ala) n.541T>C c.1853T>C (p.Val618Ala) c.1655T>C (p.Val552Ala) c.1628T>C (p.Val543Ala) c.1682T>C (p.Val561Ala) n.631T>C n.5962T>C c.1940T>C (p.Val647Ala) c.1766T>C (p.Val589Ala) c.1742T>C (p.Val581Ala) c.875T>C (p.Val292Ala) c.788T>C (p.Val263Ala) c.701T>C (p.Val234Ala) n.601T>C | |
17 | g.45996519T>G | CA399978175 | MAPT | c.590T>G (p.Val197Gly) c.503T>G (p.Val168Gly) c.677T>G (p.Val226Gly) n.541T>G c.1853T>G (p.Val618Gly) c.1655T>G (p.Val552Gly) c.1628T>G (p.Val543Gly) c.1682T>G (p.Val561Gly) n.631T>G n.5962T>G c.1940T>G (p.Val647Gly) c.1766T>G (p.Val589Gly) c.1742T>G (p.Val581Gly) c.875T>G (p.Val292Gly) c.788T>G (p.Val263Gly) c.701T>G (p.Val234Gly) n.601T>G | |
17 | g.45996520G>A | CA8618048 | MAPT | c.591G>A (p.Val197=) c.504G>A (p.Val168=) c.678G>A (p.Val226=) n.542G>A c.1854G>A (p.Val618=) c.1656G>A (p.Val552=) c.1629G>A (p.Val543=) c.1683G>A (p.Val561=) n.632G>A n.5963G>A c.1941G>A (p.Val647=) c.1767G>A (p.Val589=) c.1743G>A (p.Val581=) c.876G>A (p.Val292=) c.789G>A (p.Val263=) c.702G>A (p.Val234=) n.602G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996520G>C | CA500643981 | MAPT | c.591G>C (p.Val197=) c.504G>C (p.Val168=) c.678G>C (p.Val226=) n.542G>C c.1854G>C (p.Val618=) c.1656G>C (p.Val552=) c.1629G>C (p.Val543=) c.1683G>C (p.Val561=) n.632G>C n.5963G>C c.1941G>C (p.Val647=) c.1767G>C (p.Val589=) c.1743G>C (p.Val581=) c.876G>C (p.Val292=) c.789G>C (p.Val263=) c.702G>C (p.Val234=) n.602G>C | |
17 | g.45996520G= | CA2262095004 | MAPT | c.591G= (p.Val197=) c.504G= (p.Val168=) c.678G= (p.Val226=) n.542G= c.1854G= (p.Val618=) c.1656G= (p.Val552=) c.1629G= (p.Val543=) c.1683G= (p.Val561=) n.632G= n.5963G= c.1941G= (p.Val647=) c.1767G= (p.Val589=) c.1743G= (p.Val581=) c.876G= (p.Val292=) c.789G= (p.Val263=) c.702G= (p.Val234=) n.602G= | |
17 | g.45996520G>T | CA500643982 | MAPT | c.591G>T (p.Val197=) c.504G>T (p.Val168=) c.678G>T (p.Val226=) n.542G>T c.1854G>T (p.Val618=) c.1656G>T (p.Val552=) c.1629G>T (p.Val543=) c.1683G>T (p.Val561=) n.632G>T n.5963G>T c.1941G>T (p.Val647=) c.1767G>T (p.Val589=) c.1743G>T (p.Val581=) c.876G>T (p.Val292=) c.789G>T (p.Val263=) c.702G>T (p.Val234=) n.602G>T | |
17 | g.45996521G>A | CA399978176 | MAPT | c.592G>A (p.Ala198Thr) c.505G>A (p.Ala169Thr) c.679G>A (p.Ala227Thr) n.543G>A c.1855G>A (p.Ala619Thr) c.1657G>A (p.Ala553Thr) c.1630G>A (p.Ala544Thr) c.1684G>A (p.Ala562Thr) n.633G>A n.5964G>A c.1942G>A (p.Ala648Thr) c.1768G>A (p.Ala590Thr) c.1744G>A (p.Ala582Thr) c.877G>A (p.Ala293Thr) c.790G>A (p.Ala264Thr) c.703G>A (p.Ala235Thr) n.603G>A | |
17 | g.45996521G>C | CA399978177 | MAPT | c.592G>C (p.Ala198Pro) c.505G>C (p.Ala169Pro) c.679G>C (p.Ala227Pro) n.543G>C c.1855G>C (p.Ala619Pro) c.1657G>C (p.Ala553Pro) c.1630G>C (p.Ala544Pro) c.1684G>C (p.Ala562Pro) n.633G>C n.5964G>C c.1942G>C (p.Ala648Pro) c.1768G>C (p.Ala590Pro) c.1744G>C (p.Ala582Pro) c.877G>C (p.Ala293Pro) c.790G>C (p.Ala264Pro) c.703G>C (p.Ala235Pro) n.603G>C | |
17 | g.45996521G= | CA2262095005 | MAPT | c.592G= (p.Ala198=) c.505G= (p.Ala169=) c.679G= (p.Ala227=) n.543G= c.1855G= (p.Ala619=) c.1657G= (p.Ala553=) c.1630G= (p.Ala544=) c.1684G= (p.Ala562=) n.633G= n.5964G= c.1942G= (p.Ala648=) c.1768G= (p.Ala590=) c.1744G= (p.Ala582=) c.877G= (p.Ala293=) c.790G= (p.Ala264=) c.703G= (p.Ala235=) n.603G= | |
17 | g.45996521G>T | CA399978178 | MAPT | c.592G>T (p.Ala198Ser) c.505G>T (p.Ala169Ser) c.679G>T (p.Ala227Ser) n.543G>T c.1855G>T (p.Ala619Ser) c.1657G>T (p.Ala553Ser) c.1630G>T (p.Ala544Ser) c.1684G>T (p.Ala562Ser) n.633G>T n.5964G>T c.1942G>T (p.Ala648Ser) c.1768G>T (p.Ala590Ser) c.1744G>T (p.Ala582Ser) c.877G>T (p.Ala293Ser) c.790G>T (p.Ala264Ser) c.703G>T (p.Ala235Ser) n.603G>T | dbSNP |
17 | g.45996522C>A | CA399978181 | MAPT | c.593C>A (p.Ala198Glu) c.506C>A (p.Ala169Glu) c.680C>A (p.Ala227Glu) n.544C>A c.1856C>A (p.Ala619Glu) c.1658C>A (p.Ala553Glu) c.1631C>A (p.Ala544Glu) c.1685C>A (p.Ala562Glu) n.634C>A n.5965C>A c.1943C>A (p.Ala648Glu) c.1769C>A (p.Ala590Glu) c.1745C>A (p.Ala582Glu) c.878C>A (p.Ala293Glu) c.791C>A (p.Ala264Glu) c.704C>A (p.Ala235Glu) n.604C>A | |
17 | g.45996522C>G | CA399978179 | MAPT | c.593C>G (p.Ala198Gly) c.506C>G (p.Ala169Gly) c.680C>G (p.Ala227Gly) n.544C>G c.1856C>G (p.Ala619Gly) c.1658C>G (p.Ala553Gly) c.1631C>G (p.Ala544Gly) c.1685C>G (p.Ala562Gly) n.634C>G n.5965C>G c.1943C>G (p.Ala648Gly) c.1769C>G (p.Ala590Gly) c.1745C>G (p.Ala582Gly) c.878C>G (p.Ala293Gly) c.791C>G (p.Ala264Gly) c.704C>G (p.Ala235Gly) n.604C>G | |
17 | g.45996522C>T | CA399978180 | MAPT | c.593C>T (p.Ala198Val) c.506C>T (p.Ala169Val) c.680C>T (p.Ala227Val) n.544C>T c.1856C>T (p.Ala619Val) c.1658C>T (p.Ala553Val) c.1631C>T (p.Ala544Val) c.1685C>T (p.Ala562Val) n.634C>T n.5965C>T c.1943C>T (p.Ala648Val) c.1769C>T (p.Ala590Val) c.1745C>T (p.Ala582Val) c.878C>T (p.Ala293Val) c.791C>T (p.Ala264Val) c.704C>T (p.Ala235Val) n.604C>T | gnomAD v4 |
17 | g.45996523A= | CA2262095006 | MAPT | c.594A= (p.Ala198=) c.507A= (p.Ala169=) c.681A= (p.Ala227=) n.545A= c.1857A= (p.Ala619=) c.1659A= (p.Ala553=) c.1632A= (p.Ala544=) c.1686A= (p.Ala562=) n.635A= n.5966A= c.1944A= (p.Ala648=) c.1770A= (p.Ala590=) c.1746A= (p.Ala582=) c.879A= (p.Ala293=) c.792A= (p.Ala264=) c.705A= (p.Ala235=) n.605A= | |
17 | g.45996523A>C | CA500643984 | MAPT | c.594A>C (p.Ala198=) c.507A>C (p.Ala169=) c.681A>C (p.Ala227=) n.545A>C c.1857A>C (p.Ala619=) c.1659A>C (p.Ala553=) c.1632A>C (p.Ala544=) c.1686A>C (p.Ala562=) n.635A>C n.5966A>C c.1944A>C (p.Ala648=) c.1770A>C (p.Ala590=) c.1746A>C (p.Ala582=) c.879A>C (p.Ala293=) c.792A>C (p.Ala264=) c.705A>C (p.Ala235=) n.605A>C | |
17 | g.45996523A>G | CA225407 | MAPT | c.594A>G (p.Ala198=) c.507A>G (p.Ala169=) c.681A>G (p.Ala227=) n.545A>G c.1857A>G (p.Ala619=) c.1659A>G (p.Ala553=) c.1632A>G (p.Ala544=) c.1686A>G (p.Ala562=) n.635A>G n.5966A>G c.1944A>G (p.Ala648=) c.1770A>G (p.Ala590=) c.1746A>G (p.Ala582=) c.879A>G (p.Ala293=) c.792A>G (p.Ala264=) c.705A>G (p.Ala235=) n.605A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.45996523A>T | CA500643983 | MAPT | c.594A>T (p.Ala198=) c.507A>T (p.Ala169=) c.681A>T (p.Ala227=) n.545A>T c.1857A>T (p.Ala619=) c.1659A>T (p.Ala553=) c.1632A>T (p.Ala544=) c.1686A>T (p.Ala562=) n.635A>T n.5966A>T c.1944A>T (p.Ala648=) c.1770A>T (p.Ala590=) c.1746A>T (p.Ala582=) c.879A>T (p.Ala293=) c.792A>T (p.Ala264=) c.705A>T (p.Ala235=) n.605A>T | |
17 | g.45996524G>A | CA399978182 | MAPT | c.595G>A (p.Val199Met) c.508G>A (p.Val170Met) c.682G>A (p.Val228Met) n.546G>A c.1858G>A (p.Val620Met) c.1660G>A (p.Val554Met) c.1633G>A (p.Val545Met) c.1687G>A (p.Val563Met) n.636G>A n.5967G>A c.1945G>A (p.Val649Met) c.1771G>A (p.Val591Met) c.1747G>A (p.Val583Met) c.880G>A (p.Val294Met) c.793G>A (p.Val265Met) c.706G>A (p.Val236Met) n.606G>A | |
17 | g.45996524G>C | CA399978183 | MAPT | c.595G>C (p.Val199Leu) c.508G>C (p.Val170Leu) c.682G>C (p.Val228Leu) n.546G>C c.1858G>C (p.Val620Leu) c.1660G>C (p.Val554Leu) c.1633G>C (p.Val545Leu) c.1687G>C (p.Val563Leu) n.636G>C n.5967G>C c.1945G>C (p.Val649Leu) c.1771G>C (p.Val591Leu) c.1747G>C (p.Val583Leu) c.880G>C (p.Val294Leu) c.793G>C (p.Val265Leu) c.706G>C (p.Val236Leu) n.606G>C | |
17 | g.45996524G>T | CA399978184 | MAPT | c.595G>T (p.Val199Leu) c.508G>T (p.Val170Leu) c.682G>T (p.Val228Leu) n.546G>T c.1858G>T (p.Val620Leu) c.1660G>T (p.Val554Leu) c.1633G>T (p.Val545Leu) c.1687G>T (p.Val563Leu) n.636G>T n.5967G>T c.1945G>T (p.Val649Leu) c.1771G>T (p.Val591Leu) c.1747G>T (p.Val583Leu) c.880G>T (p.Val294Leu) c.793G>T (p.Val265Leu) c.706G>T (p.Val236Leu) n.606G>T | |
17 | g.45996525T>A | CA399978185 | MAPT | c.596T>A (p.Val199Glu) c.509T>A (p.Val170Glu) c.683T>A (p.Val228Glu) n.547T>A c.1859T>A (p.Val620Glu) c.1661T>A (p.Val554Glu) c.1634T>A (p.Val545Glu) c.1688T>A (p.Val563Glu) n.637T>A n.5968T>A c.1946T>A (p.Val649Glu) c.1772T>A (p.Val591Glu) c.1748T>A (p.Val583Glu) c.881T>A (p.Val294Glu) c.794T>A (p.Val265Glu) c.707T>A (p.Val236Glu) n.607T>A | |
17 | g.45996525T>C | CA399978186 | MAPT | c.596T>C (p.Val199Ala) c.509T>C (p.Val170Ala) c.683T>C (p.Val228Ala) n.547T>C c.1859T>C (p.Val620Ala) c.1661T>C (p.Val554Ala) c.1634T>C (p.Val545Ala) c.1688T>C (p.Val563Ala) n.637T>C n.5968T>C c.1946T>C (p.Val649Ala) c.1772T>C (p.Val591Ala) c.1748T>C (p.Val583Ala) c.881T>C (p.Val294Ala) c.794T>C (p.Val265Ala) c.707T>C (p.Val236Ala) n.607T>C | |
17 | g.45996525T>G | CA399978187 | MAPT | c.596T>G (p.Val199Gly) c.509T>G (p.Val170Gly) c.683T>G (p.Val228Gly) n.547T>G c.1859T>G (p.Val620Gly) c.1661T>G (p.Val554Gly) c.1634T>G (p.Val545Gly) c.1688T>G (p.Val563Gly) n.637T>G n.5968T>G c.1946T>G (p.Val649Gly) c.1772T>G (p.Val591Gly) c.1748T>G (p.Val583Gly) c.881T>G (p.Val294Gly) c.794T>G (p.Val265Gly) c.707T>G (p.Val236Gly) n.607T>G | |
17 | g.45996526G>A | CA500643985 | MAPT | c.597G>A (p.Val199=) c.510G>A (p.Val170=) c.684G>A (p.Val228=) n.548G>A c.1860G>A (p.Val620=) c.1662G>A (p.Val554=) c.1635G>A (p.Val545=) c.1689G>A (p.Val563=) n.638G>A n.5969G>A c.1947G>A (p.Val649=) c.1773G>A (p.Val591=) c.1749G>A (p.Val583=) c.882G>A (p.Val294=) c.795G>A (p.Val265=) c.708G>A (p.Val236=) n.608G>A | |
17 | g.45996526G>C | CA500643987 | MAPT | c.597G>C (p.Val199=) c.510G>C (p.Val170=) c.684G>C (p.Val228=) n.548G>C c.1860G>C (p.Val620=) c.1662G>C (p.Val554=) c.1635G>C (p.Val545=) c.1689G>C (p.Val563=) n.638G>C n.5969G>C c.1947G>C (p.Val649=) c.1773G>C (p.Val591=) c.1749G>C (p.Val583=) c.882G>C (p.Val294=) c.795G>C (p.Val265=) c.708G>C (p.Val236=) n.608G>C | |
17 | g.45996526G>T | CA500643986 | MAPT | c.597G>T (p.Val199=) c.510G>T (p.Val170=) c.684G>T (p.Val228=) n.548G>T c.1860G>T (p.Val620=) c.1662G>T (p.Val554=) c.1635G>T (p.Val545=) c.1689G>T (p.Val563=) n.638G>T n.5969G>T c.1947G>T (p.Val649=) c.1773G>T (p.Val591=) c.1749G>T (p.Val583=) c.882G>T (p.Val294=) c.795G>T (p.Val265=) c.708G>T (p.Val236=) n.608G>T | |
17 | g.45996527G>A | CA399978188 | MAPT | c.598G>A (p.Val200Ile) c.511G>A (p.Val171Ile) c.685G>A (p.Val229Ile) n.549G>A c.1861G>A (p.Val621Ile) c.1663G>A (p.Val555Ile) c.1636G>A (p.Val546Ile) c.1690G>A (p.Val564Ile) n.639G>A n.5970G>A c.1948G>A (p.Val650Ile) c.1774G>A (p.Val592Ile) c.1750G>A (p.Val584Ile) c.883G>A (p.Val295Ile) c.796G>A (p.Val266Ile) c.709G>A (p.Val237Ile) n.609G>A | |
17 | g.45996527G>C | CA399978189 | MAPT | c.598G>C (p.Val200Leu) c.511G>C (p.Val171Leu) c.685G>C (p.Val229Leu) n.549G>C c.1861G>C (p.Val621Leu) c.1663G>C (p.Val555Leu) c.1636G>C (p.Val546Leu) c.1690G>C (p.Val564Leu) n.639G>C n.5970G>C c.1948G>C (p.Val650Leu) c.1774G>C (p.Val592Leu) c.1750G>C (p.Val584Leu) c.883G>C (p.Val295Leu) c.796G>C (p.Val266Leu) c.709G>C (p.Val237Leu) n.609G>C | |
17 | g.45996527G>T | CA399978190 | MAPT | c.598G>T (p.Val200Phe) c.511G>T (p.Val171Phe) c.685G>T (p.Val229Phe) n.549G>T c.1861G>T (p.Val621Phe) c.1663G>T (p.Val555Phe) c.1636G>T (p.Val546Phe) c.1690G>T (p.Val564Phe) n.639G>T n.5970G>T c.1948G>T (p.Val650Phe) c.1774G>T (p.Val592Phe) c.1750G>T (p.Val584Phe) c.883G>T (p.Val295Phe) c.796G>T (p.Val266Phe) c.709G>T (p.Val237Phe) n.609G>T | |
17 | g.45996528T>A | CA399978191 | MAPT | c.599T>A (p.Val200Asp) c.512T>A (p.Val171Asp) c.686T>A (p.Val229Asp) n.550T>A c.1862T>A (p.Val621Asp) c.1664T>A (p.Val555Asp) c.1637T>A (p.Val546Asp) c.1691T>A (p.Val564Asp) n.640T>A n.5971T>A c.1949T>A (p.Val650Asp) c.1775T>A (p.Val592Asp) c.1751T>A (p.Val584Asp) c.884T>A (p.Val295Asp) c.797T>A (p.Val266Asp) c.710T>A (p.Val237Asp) n.610T>A | |
17 | g.45996528T>C | CA399978192 | MAPT | c.599T>C (p.Val200Ala) c.512T>C (p.Val171Ala) c.686T>C (p.Val229Ala) n.550T>C c.1862T>C (p.Val621Ala) c.1664T>C (p.Val555Ala) c.1637T>C (p.Val546Ala) c.1691T>C (p.Val564Ala) n.640T>C n.5971T>C c.1949T>C (p.Val650Ala) c.1775T>C (p.Val592Ala) c.1751T>C (p.Val584Ala) c.884T>C (p.Val295Ala) c.797T>C (p.Val266Ala) c.710T>C (p.Val237Ala) n.610T>C | |
17 | g.45996528T>G | CA399978193 | MAPT | c.599T>G (p.Val200Gly) c.512T>G (p.Val171Gly) c.686T>G (p.Val229Gly) n.550T>G c.1862T>G (p.Val621Gly) c.1664T>G (p.Val555Gly) c.1637T>G (p.Val546Gly) c.1691T>G (p.Val564Gly) n.640T>G n.5971T>G c.1949T>G (p.Val650Gly) c.1775T>G (p.Val592Gly) c.1751T>G (p.Val584Gly) c.884T>G (p.Val295Gly) c.797T>G (p.Val266Gly) c.710T>G (p.Val237Gly) n.610T>G | |
17 | g.45996529C>A | CA500643988 | MAPT | c.600C>A (p.Val200=) c.513C>A (p.Val171=) c.687C>A (p.Val229=) n.551C>A c.1863C>A (p.Val621=) c.1665C>A (p.Val555=) c.1638C>A (p.Val546=) c.1692C>A (p.Val564=) n.641C>A n.5972C>A c.1950C>A (p.Val650=) c.1776C>A (p.Val592=) c.1752C>A (p.Val584=) c.885C>A (p.Val295=) c.798C>A (p.Val266=) c.711C>A (p.Val237=) n.611C>A | |
17 | g.45996529C>G | CA500643989 | MAPT | c.600C>G (p.Val200=) c.513C>G (p.Val171=) c.687C>G (p.Val229=) n.551C>G c.1863C>G (p.Val621=) c.1665C>G (p.Val555=) c.1638C>G (p.Val546=) c.1692C>G (p.Val564=) n.641C>G n.5972C>G c.1950C>G (p.Val650=) c.1776C>G (p.Val592=) c.1752C>G (p.Val584=) c.885C>G (p.Val295=) c.798C>G (p.Val266=) c.711C>G (p.Val237=) n.611C>G | |
17 | g.45996529C>T | CA500643990 | MAPT | c.600C>T (p.Val200=) c.513C>T (p.Val171=) c.687C>T (p.Val229=) n.551C>T c.1863C>T (p.Val621=) c.1665C>T (p.Val555=) c.1638C>T (p.Val546=) c.1692C>T (p.Val564=) n.641C>T n.5972C>T c.1950C>T (p.Val650=) c.1776C>T (p.Val592=) c.1752C>T (p.Val584=) c.885C>T (p.Val295=) c.798C>T (p.Val266=) c.711C>T (p.Val237=) n.611C>T | |
17 | g.45996530C>A | CA399978195 | MAPT | c.601C>A (p.Arg201Ser) c.514C>A (p.Arg172Ser) c.688C>A (p.Arg230Ser) n.552C>A c.1864C>A (p.Arg622Ser) c.1666C>A (p.Arg556Ser) c.1639C>A (p.Arg547Ser) c.1693C>A (p.Arg565Ser) n.642C>A n.5973C>A c.1951C>A (p.Arg651Ser) c.1777C>A (p.Arg593Ser) c.1753C>A (p.Arg585Ser) c.886C>A (p.Arg296Ser) c.799C>A (p.Arg267Ser) c.712C>A (p.Arg238Ser) n.612C>A | |
17 | g.45996530C>G | CA399978196 | MAPT | c.601C>G (p.Arg201Gly) c.514C>G (p.Arg172Gly) c.688C>G (p.Arg230Gly) n.552C>G c.1864C>G (p.Arg622Gly) c.1666C>G (p.Arg556Gly) c.1639C>G (p.Arg547Gly) c.1693C>G (p.Arg565Gly) n.642C>G n.5973C>G c.1951C>G (p.Arg651Gly) c.1777C>G (p.Arg593Gly) c.1753C>G (p.Arg585Gly) c.886C>G (p.Arg296Gly) c.799C>G (p.Arg267Gly) c.712C>G (p.Arg238Gly) n.612C>G | |
17 | g.45996530C>T | CA399978194 | MAPT | c.601C>T (p.Arg201Cys) c.514C>T (p.Arg172Cys) c.688C>T (p.Arg230Cys) n.552C>T c.1864C>T (p.Arg622Cys) c.1666C>T (p.Arg556Cys) c.1639C>T (p.Arg547Cys) c.1693C>T (p.Arg565Cys) n.642C>T n.5973C>T c.1951C>T (p.Arg651Cys) c.1777C>T (p.Arg593Cys) c.1753C>T (p.Arg585Cys) c.886C>T (p.Arg296Cys) c.799C>T (p.Arg267Cys) c.712C>T (p.Arg238Cys) n.612C>T | dbSNP gnomAD v4 |
17 | g.45996531G>A | CA399978199 | MAPT | c.602G>A (p.Arg201His) c.515G>A (p.Arg172His) c.689G>A (p.Arg230His) n.553G>A c.1865G>A (p.Arg622His) c.1667G>A (p.Arg556His) c.1640G>A (p.Arg547His) c.1694G>A (p.Arg565His) n.643G>A n.5974G>A c.1952G>A (p.Arg651His) c.1778G>A (p.Arg593His) c.1754G>A (p.Arg585His) c.887G>A (p.Arg296His) c.800G>A (p.Arg267His) c.713G>A (p.Arg238His) n.613G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.45996531G>C | CA399978197 | MAPT | c.602G>C (p.Arg201Pro) c.515G>C (p.Arg172Pro) c.689G>C (p.Arg230Pro) n.553G>C c.1865G>C (p.Arg622Pro) c.1667G>C (p.Arg556Pro) c.1640G>C (p.Arg547Pro) c.1694G>C (p.Arg565Pro) n.643G>C n.5974G>C c.1952G>C (p.Arg651Pro) c.1778G>C (p.Arg593Pro) c.1754G>C (p.Arg585Pro) c.887G>C (p.Arg296Pro) c.800G>C (p.Arg267Pro) c.713G>C (p.Arg238Pro) n.613G>C | |
17 | g.45996531G= | CA2262095007 | MAPT | c.602G= (p.Arg201=) c.515G= (p.Arg172=) c.689G= (p.Arg230=) n.553G= c.1865G= (p.Arg622=) c.1667G= (p.Arg556=) c.1640G= (p.Arg547=) c.1694G= (p.Arg565=) n.643G= n.5974G= c.1952G= (p.Arg651=) c.1778G= (p.Arg593=) c.1754G= (p.Arg585=) c.887G= (p.Arg296=) c.800G= (p.Arg267=) c.713G= (p.Arg238=) n.613G= | |
17 | g.45996531G>T | CA399978198 | MAPT | c.602G>T (p.Arg201Leu) c.515G>T (p.Arg172Leu) c.689G>T (p.Arg230Leu) n.553G>T c.1865G>T (p.Arg622Leu) c.1667G>T (p.Arg556Leu) c.1640G>T (p.Arg547Leu) c.1694G>T (p.Arg565Leu) n.643G>T n.5974G>T c.1952G>T (p.Arg651Leu) c.1778G>T (p.Arg593Leu) c.1754G>T (p.Arg585Leu) c.887G>T (p.Arg296Leu) c.800G>T (p.Arg267Leu) c.713G>T (p.Arg238Leu) n.613G>T | |
17 | g.45996532T>A | CA500643992 | MAPT | c.603T>A (p.Arg201=) c.516T>A (p.Arg172=) c.690T>A (p.Arg230=) n.554T>A c.1866T>A (p.Arg622=) c.1668T>A (p.Arg556=) c.1641T>A (p.Arg547=) c.1695T>A (p.Arg565=) n.644T>A n.5975T>A c.1953T>A (p.Arg651=) c.1779T>A (p.Arg593=) c.1755T>A (p.Arg585=) c.888T>A (p.Arg296=) c.801T>A (p.Arg267=) c.714T>A (p.Arg238=) n.614T>A | |
17 | g.45996532T>C | CA8618049 | MAPT | c.603T>C (p.Arg201=) c.516T>C (p.Arg172=) c.690T>C (p.Arg230=) n.554T>C c.1866T>C (p.Arg622=) c.1668T>C (p.Arg556=) c.1641T>C (p.Arg547=) c.1695T>C (p.Arg565=) n.644T>C n.5975T>C c.1953T>C (p.Arg651=) c.1779T>C (p.Arg593=) c.1755T>C (p.Arg585=) c.888T>C (p.Arg296=) c.801T>C (p.Arg267=) c.714T>C (p.Arg238=) n.614T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.45996532T>G | CA500643991 | MAPT | c.603T>G (p.Arg201=) c.516T>G (p.Arg172=) c.690T>G (p.Arg230=) n.554T>G c.1866T>G (p.Arg622=) c.1668T>G (p.Arg556=) c.1641T>G (p.Arg547=) c.1695T>G (p.Arg565=) n.644T>G n.5975T>G c.1953T>G (p.Arg651=) c.1779T>G (p.Arg593=) c.1755T>G (p.Arg585=) c.888T>G (p.Arg296=) c.801T>G (p.Arg267=) c.714T>G (p.Arg238=) n.614T>G | |
17 | g.45996532T= | CA2262095008 | MAPT | c.603T= (p.Arg201=) c.516T= (p.Arg172=) c.690T= (p.Arg230=) n.554T= c.1866T= (p.Arg622=) c.1668T= (p.Arg556=) c.1641T= (p.Arg547=) c.1695T= (p.Arg565=) n.644T= n.5975T= c.1953T= (p.Arg651=) c.1779T= (p.Arg593=) c.1755T= (p.Arg585=) c.888T= (p.Arg296=) c.801T= (p.Arg267=) c.714T= (p.Arg238=) n.614T= | |
17 | g.45996533A>C | CA399978200 | MAPT | c.604A>C (p.Thr202Pro) c.517A>C (p.Thr173Pro) c.691A>C (p.Thr231Pro) n.555A>C c.1867A>C (p.Thr623Pro) c.1669A>C (p.Thr557Pro) c.1642A>C (p.Thr548Pro) c.1696A>C (p.Thr566Pro) n.645A>C n.5976A>C c.1954A>C (p.Thr652Pro) c.1780A>C (p.Thr594Pro) c.1756A>C (p.Thr586Pro) c.889A>C (p.Thr297Pro) c.802A>C (p.Thr268Pro) c.715A>C (p.Thr239Pro) n.615A>C | gnomAD v3 gnomAD v4 |
17 | g.45996533A>G | CA399978201 | MAPT | c.604A>G (p.Thr202Ala) c.517A>G (p.Thr173Ala) c.691A>G (p.Thr231Ala) n.555A>G c.1867A>G (p.Thr623Ala) c.1669A>G (p.Thr557Ala) c.1642A>G (p.Thr548Ala) c.1696A>G (p.Thr566Ala) n.645A>G n.5976A>G c.1954A>G (p.Thr652Ala) c.1780A>G (p.Thr594Ala) c.1756A>G (p.Thr586Ala) c.889A>G (p.Thr297Ala) c.802A>G (p.Thr268Ala) c.715A>G (p.Thr239Ala) n.615A>G | |
17 | g.45996533A>T | CA399978202 | MAPT | c.604A>T (p.Thr202Ser) c.517A>T (p.Thr173Ser) c.691A>T (p.Thr231Ser) n.555A>T c.1867A>T (p.Thr623Ser) c.1669A>T (p.Thr557Ser) c.1642A>T (p.Thr548Ser) c.1696A>T (p.Thr566Ser) n.645A>T n.5976A>T c.1954A>T (p.Thr652Ser) c.1780A>T (p.Thr594Ser) c.1756A>T (p.Thr586Ser) c.889A>T (p.Thr297Ser) c.802A>T (p.Thr268Ser) c.715A>T (p.Thr239Ser) n.615A>T | |
17 | g.45996534C>A | CA399978203 | MAPT | c.605C>A (p.Thr202Asn) c.518C>A (p.Thr173Asn) c.692C>A (p.Thr231Asn) n.556C>A c.1868C>A (p.Thr623Asn) c.1670C>A (p.Thr557Asn) c.1643C>A (p.Thr548Asn) c.1697C>A (p.Thr566Asn) n.646C>A n.5977C>A c.1955C>A (p.Thr652Asn) c.1781C>A (p.Thr594Asn) c.1757C>A (p.Thr586Asn) c.890C>A (p.Thr297Asn) c.803C>A (p.Thr268Asn) c.716C>A (p.Thr239Asn) n.616C>A | |
17 | g.45996534C>G | CA399978204 | MAPT | c.605C>G (p.Thr202Ser) c.518C>G (p.Thr173Ser) c.692C>G (p.Thr231Ser) n.556C>G c.1868C>G (p.Thr623Ser) c.1670C>G (p.Thr557Ser) c.1643C>G (p.Thr548Ser) c.1697C>G (p.Thr566Ser) n.646C>G n.5977C>G c.1955C>G (p.Thr652Ser) c.1781C>G (p.Thr594Ser) c.1757C>G (p.Thr586Ser) c.890C>G (p.Thr297Ser) c.803C>G (p.Thr268Ser) c.716C>G (p.Thr239Ser) n.616C>G | |
17 | g.45996534C>T | CA399978205 | MAPT | c.605C>T (p.Thr202Ile) c.518C>T (p.Thr173Ile) c.692C>T (p.Thr231Ile) n.556C>T c.1868C>T (p.Thr623Ile) c.1670C>T (p.Thr557Ile) c.1643C>T (p.Thr548Ile) c.1697C>T (p.Thr566Ile) n.646C>T n.5977C>T c.1955C>T (p.Thr652Ile) c.1781C>T (p.Thr594Ile) c.1757C>T (p.Thr586Ile) c.890C>T (p.Thr297Ile) c.803C>T (p.Thr268Ile) c.716C>T (p.Thr239Ile) n.616C>T | |
17 | g.45996535T>A | CA500643994 | MAPT | c.606T>A (p.Thr202=) c.519T>A (p.Thr173=) c.693T>A (p.Thr231=) n.557T>A c.1869T>A (p.Thr623=) c.1671T>A (p.Thr557=) c.1644T>A (p.Thr548=) c.1698T>A (p.Thr566=) n.647T>A n.5978T>A c.1956T>A (p.Thr652=) c.1782T>A (p.Thr594=) c.1758T>A (p.Thr586=) c.891T>A (p.Thr297=) c.804T>A (p.Thr268=) c.717T>A (p.Thr239=) n.617T>A | |
17 | g.45996535T>C | CA500643995 | MAPT | c.606T>C (p.Thr202=) c.519T>C (p.Thr173=) c.693T>C (p.Thr231=) n.557T>C c.1869T>C (p.Thr623=) c.1671T>C (p.Thr557=) c.1644T>C (p.Thr548=) c.1698T>C (p.Thr566=) n.647T>C n.5978T>C c.1956T>C (p.Thr652=) c.1782T>C (p.Thr594=) c.1758T>C (p.Thr586=) c.891T>C (p.Thr297=) c.804T>C (p.Thr268=) c.717T>C (p.Thr239=) n.617T>C | |
17 | g.45996535T>G | CA500643993 | MAPT | c.606T>G (p.Thr202=) c.519T>G (p.Thr173=) c.693T>G (p.Thr231=) n.557T>G c.1869T>G (p.Thr623=) c.1671T>G (p.Thr557=) c.1644T>G (p.Thr548=) c.1698T>G (p.Thr566=) n.647T>G n.5978T>G c.1956T>G (p.Thr652=) c.1782T>G (p.Thr594=) c.1758T>G (p.Thr586=) c.891T>G (p.Thr297=) c.804T>G (p.Thr268=) c.717T>G (p.Thr239=) n.617T>G | |
17 | g.45996536C>A | CA399978206 | MAPT | c.607C>A (p.Pro203Thr) c.520C>A (p.Pro174Thr) c.694C>A (p.Pro232Thr) n.558C>A c.1870C>A (p.Pro624Thr) c.1672C>A (p.Pro558Thr) c.1645C>A (p.Pro549Thr) c.1699C>A (p.Pro567Thr) n.648C>A n.5979C>A c.1957C>A (p.Pro653Thr) c.1783C>A (p.Pro595Thr) c.1759C>A (p.Pro587Thr) c.892C>A (p.Pro298Thr) c.805C>A (p.Pro269Thr) c.718C>A (p.Pro240Thr) n.618C>A | |
17 | g.45996536C>G | CA399978207 | MAPT | c.607C>G (p.Pro203Ala) c.520C>G (p.Pro174Ala) c.694C>G (p.Pro232Ala) n.558C>G c.1870C>G (p.Pro624Ala) c.1672C>G (p.Pro558Ala) c.1645C>G (p.Pro549Ala) c.1699C>G (p.Pro567Ala) n.648C>G n.5979C>G c.1957C>G (p.Pro653Ala) c.1783C>G (p.Pro595Ala) c.1759C>G (p.Pro587Ala) c.892C>G (p.Pro298Ala) c.805C>G (p.Pro269Ala) c.718C>G (p.Pro240Ala) n.618C>G | |
17 | g.45996536C>T | CA399978208 | MAPT | c.607C>T (p.Pro203Ser) c.520C>T (p.Pro174Ser) c.694C>T (p.Pro232Ser) n.558C>T c.1870C>T (p.Pro624Ser) c.1672C>T (p.Pro558Ser) c.1645C>T (p.Pro549Ser) c.1699C>T (p.Pro567Ser) n.648C>T n.5979C>T c.1957C>T (p.Pro653Ser) c.1783C>T (p.Pro595Ser) c.1759C>T (p.Pro587Ser) c.892C>T (p.Pro298Ser) c.805C>T (p.Pro269Ser) c.718C>T (p.Pro240Ser) n.618C>T | |
17 | g.45996537C>A | CA399978211 | MAPT | c.608C>A (p.Pro203Gln) c.521C>A (p.Pro174Gln) c.695C>A (p.Pro232Gln) n.559C>A c.1871C>A (p.Pro624Gln) c.1673C>A (p.Pro558Gln) c.1646C>A (p.Pro549Gln) c.1700C>A (p.Pro567Gln) n.649C>A n.5980C>A c.1958C>A (p.Pro653Gln) c.1784C>A (p.Pro595Gln) c.1760C>A (p.Pro587Gln) c.893C>A (p.Pro298Gln) c.806C>A (p.Pro269Gln) c.719C>A (p.Pro240Gln) n.619C>A | dbSNP |
17 | g.45996537C>G | CA399978209 | MAPT | c.608C>G (p.Pro203Arg) c.521C>G (p.Pro174Arg) c.695C>G (p.Pro232Arg) n.559C>G c.1871C>G (p.Pro624Arg) c.1673C>G (p.Pro558Arg) c.1646C>G (p.Pro549Arg) c.1700C>G (p.Pro567Arg) n.649C>G n.5980C>G c.1958C>G (p.Pro653Arg) c.1784C>G (p.Pro595Arg) c.1760C>G (p.Pro587Arg) c.893C>G (p.Pro298Arg) c.806C>G (p.Pro269Arg) c.719C>G (p.Pro240Arg) n.619C>G | |
17 | g.45996537C>T | CA399978210 | MAPT | c.608C>T (p.Pro203Leu) c.521C>T (p.Pro174Leu) c.695C>T (p.Pro232Leu) n.559C>T c.1871C>T (p.Pro624Leu) c.1673C>T (p.Pro558Leu) c.1646C>T (p.Pro549Leu) c.1700C>T (p.Pro567Leu) n.649C>T n.5980C>T c.1958C>T (p.Pro653Leu) c.1784C>T (p.Pro595Leu) c.1760C>T (p.Pro587Leu) c.893C>T (p.Pro298Leu) c.806C>T (p.Pro269Leu) c.719C>T (p.Pro240Leu) n.619C>T | |
17 | g.45996538A>C | CA500643998 | MAPT | c.609A>C (p.Pro203=) c.522A>C (p.Pro174=) c.696A>C (p.Pro232=) n.560A>C c.1872A>C (p.Pro624=) c.1674A>C (p.Pro558=) c.1647A>C (p.Pro549=) c.1701A>C (p.Pro567=) n.650A>C n.5981A>C c.1959A>C (p.Pro653=) c.1785A>C (p.Pro595=) c.1761A>C (p.Pro587=) c.894A>C (p.Pro298=) c.807A>C (p.Pro269=) c.720A>C (p.Pro240=) n.620A>C | |
17 | g.45996538A>G | CA500643996 | MAPT | c.609A>G (p.Pro203=) c.522A>G (p.Pro174=) c.696A>G (p.Pro232=) n.560A>G c.1872A>G (p.Pro624=) c.1674A>G (p.Pro558=) c.1647A>G (p.Pro549=) c.1701A>G (p.Pro567=) n.650A>G n.5981A>G c.1959A>G (p.Pro653=) c.1785A>G (p.Pro595=) c.1761A>G (p.Pro587=) c.894A>G (p.Pro298=) c.807A>G (p.Pro269=) c.720A>G (p.Pro240=) n.620A>G | |
17 | g.45996538A>T | CA500643997 | MAPT | c.609A>T (p.Pro203=) c.522A>T (p.Pro174=) c.696A>T (p.Pro232=) n.560A>T c.1872A>T (p.Pro624=) c.1674A>T (p.Pro558=) c.1647A>T (p.Pro549=) c.1701A>T (p.Pro567=) n.650A>T n.5981A>T c.1959A>T (p.Pro653=) c.1785A>T (p.Pro595=) c.1761A>T (p.Pro587=) c.894A>T (p.Pro298=) c.807A>T (p.Pro269=) c.720A>T (p.Pro240=) n.620A>T |