Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.45996551T>ACA399978238MAPTc.622T>A (p.Ser208Thr)
c.535T>A (p.Ser179Thr)
c.709T>A (p.Ser237Thr)
n.573T>A
c.1885T>A (p.Ser629Thr)
c.1687T>A (p.Ser563Thr)
c.1660T>A (p.Ser554Thr)
c.1714T>A (p.Ser572Thr)
n.663T>A
n.5994T>A
c.1972T>A (p.Ser658Thr)
c.1798T>A (p.Ser600Thr)
c.1774T>A (p.Ser592Thr)
c.907T>A (p.Ser303Thr)
c.820T>A (p.Ser274Thr)
c.733T>A (p.Ser245Thr)
n.633T>A
17g.45996551T>CCA399978240MAPTc.622T>C (p.Ser208Pro)
c.535T>C (p.Ser179Pro)
c.709T>C (p.Ser237Pro)
n.573T>C
c.1885T>C (p.Ser629Pro)
c.1687T>C (p.Ser563Pro)
c.1660T>C (p.Ser554Pro)
c.1714T>C (p.Ser572Pro)
n.663T>C
n.5994T>C
c.1972T>C (p.Ser658Pro)
c.1798T>C (p.Ser600Pro)
c.1774T>C (p.Ser592Pro)
c.907T>C (p.Ser303Pro)
c.820T>C (p.Ser274Pro)
c.733T>C (p.Ser245Pro)
n.633T>C
17g.45996551T>GCA399978239MAPTc.622T>G (p.Ser208Ala)
c.535T>G (p.Ser179Ala)
c.709T>G (p.Ser237Ala)
n.573T>G
c.1885T>G (p.Ser629Ala)
c.1687T>G (p.Ser563Ala)
c.1660T>G (p.Ser554Ala)
c.1714T>G (p.Ser572Ala)
n.663T>G
n.5994T>G
c.1972T>G (p.Ser658Ala)
c.1798T>G (p.Ser600Ala)
c.1774T>G (p.Ser592Ala)
c.907T>G (p.Ser303Ala)
c.820T>G (p.Ser274Ala)
c.733T>G (p.Ser245Ala)
n.633T>G
17g.45996552C>ACA399978241MAPTc.623C>A (p.Ser208Tyr)
c.536C>A (p.Ser179Tyr)
c.710C>A (p.Ser237Tyr)
n.574C>A
c.1886C>A (p.Ser629Tyr)
c.1688C>A (p.Ser563Tyr)
c.1661C>A (p.Ser554Tyr)
c.1715C>A (p.Ser572Tyr)
n.664C>A
n.5995C>A
c.1973C>A (p.Ser658Tyr)
c.1799C>A (p.Ser600Tyr)
c.1775C>A (p.Ser592Tyr)
c.908C>A (p.Ser303Tyr)
c.821C>A (p.Ser274Tyr)
c.734C>A (p.Ser245Tyr)
n.634C>A
 dbSNP gnomAD v2 gnomAD v4
17g.45996552C=CA2262095015MAPTc.623C= (p.Ser208=)
c.536C= (p.Ser179=)
c.710C= (p.Ser237=)
n.574C=
c.1886C= (p.Ser629=)
c.1688C= (p.Ser563=)
c.1661C= (p.Ser554=)
c.1715C= (p.Ser572=)
n.664C=
n.5995C=
c.1973C= (p.Ser658=)
c.1799C= (p.Ser600=)
c.1775C= (p.Ser592=)
c.908C= (p.Ser303=)
c.821C= (p.Ser274=)
c.734C= (p.Ser245=)
n.634C=
17g.45996552C>GCA399978242MAPTc.623C>G (p.Ser208Cys)
c.536C>G (p.Ser179Cys)
c.710C>G (p.Ser237Cys)
n.574C>G
c.1886C>G (p.Ser629Cys)
c.1688C>G (p.Ser563Cys)
c.1661C>G (p.Ser554Cys)
c.1715C>G (p.Ser572Cys)
n.664C>G
n.5995C>G
c.1973C>G (p.Ser658Cys)
c.1799C>G (p.Ser600Cys)
c.1775C>G (p.Ser592Cys)
c.908C>G (p.Ser303Cys)
c.821C>G (p.Ser274Cys)
c.734C>G (p.Ser245Cys)
n.634C>G
 gnomAD v4
17g.45996552C>TCA399978243MAPTc.623C>T (p.Ser208Phe)
c.536C>T (p.Ser179Phe)
c.710C>T (p.Ser237Phe)
n.574C>T
c.1886C>T (p.Ser629Phe)
c.1688C>T (p.Ser563Phe)
c.1661C>T (p.Ser554Phe)
c.1715C>T (p.Ser572Phe)
n.664C>T
n.5995C>T
c.1973C>T (p.Ser658Phe)
c.1799C>T (p.Ser600Phe)
c.1775C>T (p.Ser592Phe)
c.908C>T (p.Ser303Phe)
c.821C>T (p.Ser274Phe)
c.734C>T (p.Ser245Phe)
n.634C>T
17g.45996553T>ACA500644007MAPTc.624T>A (p.Ser208=)
c.537T>A (p.Ser179=)
c.711T>A (p.Ser237=)
n.575T>A
c.1887T>A (p.Ser629=)
c.1689T>A (p.Ser563=)
c.1662T>A (p.Ser554=)
c.1716T>A (p.Ser572=)
n.665T>A
n.5996T>A
c.1974T>A (p.Ser658=)
c.1800T>A (p.Ser600=)
c.1776T>A (p.Ser592=)
c.909T>A (p.Ser303=)
c.822T>A (p.Ser274=)
c.735T>A (p.Ser245=)
n.635T>A
17g.45996553T>CCA500644006MAPTc.624T>C (p.Ser208=)
c.537T>C (p.Ser179=)
c.711T>C (p.Ser237=)
n.575T>C
c.1887T>C (p.Ser629=)
c.1689T>C (p.Ser563=)
c.1662T>C (p.Ser554=)
c.1716T>C (p.Ser572=)
n.665T>C
n.5996T>C
c.1974T>C (p.Ser658=)
c.1800T>C (p.Ser600=)
c.1776T>C (p.Ser592=)
c.909T>C (p.Ser303=)
c.822T>C (p.Ser274=)
c.735T>C (p.Ser245=)
n.635T>C
 dbSNP gnomAD v2 gnomAD v4
17g.45996553T>GCA500644008MAPTc.624T>G (p.Ser208=)
c.537T>G (p.Ser179=)
c.711T>G (p.Ser237=)
n.575T>G
c.1887T>G (p.Ser629=)
c.1689T>G (p.Ser563=)
c.1662T>G (p.Ser554=)
c.1716T>G (p.Ser572=)
n.665T>G
n.5996T>G
c.1974T>G (p.Ser658=)
c.1800T>G (p.Ser600=)
c.1776T>G (p.Ser592=)
c.909T>G (p.Ser303=)
c.822T>G (p.Ser274=)
c.735T>G (p.Ser245=)
n.635T>G
17g.45996553T=CA2262095016MAPTc.624T= (p.Ser208=)
c.537T= (p.Ser179=)
c.711T= (p.Ser237=)
n.575T=
c.1887T= (p.Ser629=)
c.1689T= (p.Ser563=)
c.1662T= (p.Ser554=)
c.1716T= (p.Ser572=)
n.665T=
n.5996T=
c.1974T= (p.Ser658=)
c.1800T= (p.Ser600=)
c.1776T= (p.Ser592=)
c.909T= (p.Ser303=)
c.822T= (p.Ser274=)
c.735T= (p.Ser245=)
n.635T=
17g.45996554T>ACA399978244MAPTc.625T>A (p.Ser209Thr)
c.538T>A (p.Ser180Thr)
c.712T>A (p.Ser238Thr)
n.576T>A
c.1888T>A (p.Ser630Thr)
c.1690T>A (p.Ser564Thr)
c.1663T>A (p.Ser555Thr)
c.1717T>A (p.Ser573Thr)
n.666T>A
n.5997T>A
c.1975T>A (p.Ser659Thr)
c.1801T>A (p.Ser601Thr)
c.1777T>A (p.Ser593Thr)
c.910T>A (p.Ser304Thr)
c.823T>A (p.Ser275Thr)
c.736T>A (p.Ser246Thr)
n.636T>A
17g.45996554T>CCA399978245MAPTc.625T>C (p.Ser209Pro)
c.538T>C (p.Ser180Pro)
c.712T>C (p.Ser238Pro)
n.576T>C
c.1888T>C (p.Ser630Pro)
c.1690T>C (p.Ser564Pro)
c.1663T>C (p.Ser555Pro)
c.1717T>C (p.Ser573Pro)
n.666T>C
n.5997T>C
c.1975T>C (p.Ser659Pro)
c.1801T>C (p.Ser601Pro)
c.1777T>C (p.Ser593Pro)
c.910T>C (p.Ser304Pro)
c.823T>C (p.Ser275Pro)
c.736T>C (p.Ser246Pro)
n.636T>C
17g.45996554T>GCA399978246MAPTc.625T>G (p.Ser209Ala)
c.538T>G (p.Ser180Ala)
c.712T>G (p.Ser238Ala)
n.576T>G
c.1888T>G (p.Ser630Ala)
c.1690T>G (p.Ser564Ala)
c.1663T>G (p.Ser555Ala)
c.1717T>G (p.Ser573Ala)
n.666T>G
n.5997T>G
c.1975T>G (p.Ser659Ala)
c.1801T>G (p.Ser601Ala)
c.1777T>G (p.Ser593Ala)
c.910T>G (p.Ser304Ala)
c.823T>G (p.Ser275Ala)
c.736T>G (p.Ser246Ala)
n.636T>G
17g.45996555C>ACA399978247MAPTc.626C>A (p.Ser209Tyr)
c.539C>A (p.Ser180Tyr)
c.713C>A (p.Ser238Tyr)
n.577C>A
c.1889C>A (p.Ser630Tyr)
c.1691C>A (p.Ser564Tyr)
c.1664C>A (p.Ser555Tyr)
c.1718C>A (p.Ser573Tyr)
n.667C>A
n.5998C>A
c.1976C>A (p.Ser659Tyr)
c.1802C>A (p.Ser601Tyr)
c.1778C>A (p.Ser593Tyr)
c.911C>A (p.Ser304Tyr)
c.824C>A (p.Ser275Tyr)
c.737C>A (p.Ser246Tyr)
n.637C>A
 gnomAD v4
17g.45996555C>GCA399978248MAPTc.626C>G (p.Ser209Cys)
c.539C>G (p.Ser180Cys)
c.713C>G (p.Ser238Cys)
n.577C>G
c.1889C>G (p.Ser630Cys)
c.1691C>G (p.Ser564Cys)
c.1664C>G (p.Ser555Cys)
c.1718C>G (p.Ser573Cys)
n.667C>G
n.5998C>G
c.1976C>G (p.Ser659Cys)
c.1802C>G (p.Ser601Cys)
c.1778C>G (p.Ser593Cys)
c.911C>G (p.Ser304Cys)
c.824C>G (p.Ser275Cys)
c.737C>G (p.Ser246Cys)
n.637C>G
17g.45996555C>TCA399978249MAPTc.626C>T (p.Ser209Phe)
c.539C>T (p.Ser180Phe)
c.713C>T (p.Ser238Phe)
n.577C>T
c.1889C>T (p.Ser630Phe)
c.1691C>T (p.Ser564Phe)
c.1664C>T (p.Ser555Phe)
c.1718C>T (p.Ser573Phe)
n.667C>T
n.5998C>T
c.1976C>T (p.Ser659Phe)
c.1802C>T (p.Ser601Phe)
c.1778C>T (p.Ser593Phe)
c.911C>T (p.Ser304Phe)
c.824C>T (p.Ser275Phe)
c.737C>T (p.Ser246Phe)
n.637C>T
17g.45996556C>ACA500644009MAPTc.627C>A (p.Ser209=)
c.540C>A (p.Ser180=)
c.714C>A (p.Ser238=)
n.578C>A
c.1890C>A (p.Ser630=)
c.1692C>A (p.Ser564=)
c.1665C>A (p.Ser555=)
c.1719C>A (p.Ser573=)
n.668C>A
n.5999C>A
c.1977C>A (p.Ser659=)
c.1803C>A (p.Ser601=)
c.1779C>A (p.Ser593=)
c.912C>A (p.Ser304=)
c.825C>A (p.Ser275=)
c.738C>A (p.Ser246=)
n.638C>A
 COSMIC COSMIC COSMIC
17g.45996556C=CA2262095017MAPTc.627C= (p.Ser209=)
c.540C= (p.Ser180=)
c.714C= (p.Ser238=)
n.578C=
c.1890C= (p.Ser630=)
c.1692C= (p.Ser564=)
c.1665C= (p.Ser555=)
c.1719C= (p.Ser573=)
n.668C=
n.5999C=
c.1977C= (p.Ser659=)
c.1803C= (p.Ser601=)
c.1779C= (p.Ser593=)
c.912C= (p.Ser304=)
c.825C= (p.Ser275=)
c.738C= (p.Ser246=)
n.638C=
17g.45996556C>GCA500644010MAPTc.627C>G (p.Ser209=)
c.540C>G (p.Ser180=)
c.714C>G (p.Ser238=)
n.578C>G
c.1890C>G (p.Ser630=)
c.1692C>G (p.Ser564=)
c.1665C>G (p.Ser555=)
c.1719C>G (p.Ser573=)
n.668C>G
n.5999C>G
c.1977C>G (p.Ser659=)
c.1803C>G (p.Ser601=)
c.1779C>G (p.Ser593=)
c.912C>G (p.Ser304=)
c.825C>G (p.Ser275=)
c.738C>G (p.Ser246=)
n.638C>G
17g.45996556C>TCA8618052MAPTc.627C>T (p.Ser209=)
c.540C>T (p.Ser180=)
c.714C>T (p.Ser238=)
n.578C>T
c.1890C>T (p.Ser630=)
c.1692C>T (p.Ser564=)
c.1665C>T (p.Ser555=)
c.1719C>T (p.Ser573=)
n.668C>T
n.5999C>T
c.1977C>T (p.Ser659=)
c.1803C>T (p.Ser601=)
c.1779C>T (p.Ser593=)
c.912C>T (p.Ser304=)
c.825C>T (p.Ser275=)
c.738C>T (p.Ser246=)
n.638C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.45996557delCA2733872194MAPTc.628del (p.Ala210ProfsTer15)
c.541del (p.Ala181ProfsTer15)
c.715del (p.Ala239ProfsTer15)
n.579del
c.1891del (p.Ala631ProfsTer15)
c.1693del (p.Ala565ProfsTer15)
c.1666del (p.Ala556ProfsTer15)
c.1720del (p.Ala574ProfsTer15)
n.669del
n.6000del
c.1978del (p.Ala660ProfsTer15)
c.1804del (p.Ala602ProfsTer15)
c.1780del (p.Ala594ProfsTer15)
c.913del (p.Ala305ProfsTer15)
c.826del (p.Ala276ProfsTer15)
c.739del (p.Ala247ProfsTer15)
n.639del
 dbSNP
17g.45996557G>ACA225409MAPTc.628G>A (p.Ala210Thr)
c.541G>A (p.Ala181Thr)
c.715G>A (p.Ala239Thr)
n.579G>A
c.1891G>A (p.Ala631Thr)
c.1693G>A (p.Ala565Thr)
c.1666G>A (p.Ala556Thr)
c.1720G>A (p.Ala574Thr)
n.669G>A
n.6000G>A
c.1978G>A (p.Ala660Thr)
c.1804G>A (p.Ala602Thr)
c.1780G>A (p.Ala594Thr)
c.913G>A (p.Ala305Thr)
c.826G>A (p.Ala276Thr)
c.739G>A (p.Ala247Thr)
n.639G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996557G>CCA399978250MAPTc.628G>C (p.Ala210Pro)
c.541G>C (p.Ala181Pro)
c.715G>C (p.Ala239Pro)
n.579G>C
c.1891G>C (p.Ala631Pro)
c.1693G>C (p.Ala565Pro)
c.1666G>C (p.Ala556Pro)
c.1720G>C (p.Ala574Pro)
n.669G>C
n.6000G>C
c.1978G>C (p.Ala660Pro)
c.1804G>C (p.Ala602Pro)
c.1780G>C (p.Ala594Pro)
c.913G>C (p.Ala305Pro)
c.826G>C (p.Ala276Pro)
c.739G>C (p.Ala247Pro)
n.639G>C
17g.45996557G=CA2262095018MAPTc.628G= (p.Ala210=)
c.541G= (p.Ala181=)
c.715G= (p.Ala239=)
n.579G=
c.1891G= (p.Ala631=)
c.1693G= (p.Ala565=)
c.1666G= (p.Ala556=)
c.1720G= (p.Ala574=)
n.669G=
n.6000G=
c.1978G= (p.Ala660=)
c.1804G= (p.Ala602=)
c.1780G= (p.Ala594=)
c.913G= (p.Ala305=)
c.826G= (p.Ala276=)
c.739G= (p.Ala247=)
n.639G=
17g.45996557G>TCA8618053MAPTc.628G>T (p.Ala210Ser)
c.541G>T (p.Ala181Ser)
c.715G>T (p.Ala239Ser)
n.579G>T
c.1891G>T (p.Ala631Ser)
c.1693G>T (p.Ala565Ser)
c.1666G>T (p.Ala556Ser)
c.1720G>T (p.Ala574Ser)
n.669G>T
n.6000G>T
c.1978G>T (p.Ala660Ser)
c.1804G>T (p.Ala602Ser)
c.1780G>T (p.Ala594Ser)
c.913G>T (p.Ala305Ser)
c.826G>T (p.Ala276Ser)
c.739G>T (p.Ala247Ser)
n.639G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996558C>ACA399978252MAPTc.629C>A (p.Ala210Asp)
c.542C>A (p.Ala181Asp)
c.716C>A (p.Ala239Asp)
n.580C>A
c.1892C>A (p.Ala631Asp)
c.1694C>A (p.Ala565Asp)
c.1667C>A (p.Ala556Asp)
c.1721C>A (p.Ala574Asp)
n.670C>A
n.6001C>A
c.1979C>A (p.Ala660Asp)
c.1805C>A (p.Ala602Asp)
c.1781C>A (p.Ala594Asp)
c.914C>A (p.Ala305Asp)
c.827C>A (p.Ala276Asp)
c.740C>A (p.Ala247Asp)
n.640C>A
17g.45996558C=CA2262095019MAPTc.629C= (p.Ala210=)
c.542C= (p.Ala181=)
c.716C= (p.Ala239=)
n.580C=
c.1892C= (p.Ala631=)
c.1694C= (p.Ala565=)
c.1667C= (p.Ala556=)
c.1721C= (p.Ala574=)
n.670C=
n.6001C=
c.1979C= (p.Ala660=)
c.1805C= (p.Ala602=)
c.1781C= (p.Ala594=)
c.914C= (p.Ala305=)
c.827C= (p.Ala276=)
c.740C= (p.Ala247=)
n.640C=
17g.45996558C>GCA399978253MAPTc.629C>G (p.Ala210Gly)
c.542C>G (p.Ala181Gly)
c.716C>G (p.Ala239Gly)
n.580C>G
c.1892C>G (p.Ala631Gly)
c.1694C>G (p.Ala565Gly)
c.1667C>G (p.Ala556Gly)
c.1721C>G (p.Ala574Gly)
n.670C>G
n.6001C>G
c.1979C>G (p.Ala660Gly)
c.1805C>G (p.Ala602Gly)
c.1781C>G (p.Ala594Gly)
c.914C>G (p.Ala305Gly)
c.827C>G (p.Ala276Gly)
c.740C>G (p.Ala247Gly)
n.640C>G
17g.45996558C>TCA399978251MAPTc.629C>T (p.Ala210Val)
c.542C>T (p.Ala181Val)
c.716C>T (p.Ala239Val)
n.580C>T
c.1892C>T (p.Ala631Val)
c.1694C>T (p.Ala565Val)
c.1667C>T (p.Ala556Val)
c.1721C>T (p.Ala574Val)
n.670C>T
n.6001C>T
c.1979C>T (p.Ala660Val)
c.1805C>T (p.Ala602Val)
c.1781C>T (p.Ala594Val)
c.914C>T (p.Ala305Val)
c.827C>T (p.Ala276Val)
c.740C>T (p.Ala247Val)
n.640C>T
 dbSNP gnomAD v3 gnomAD v4
17g.45996559C>ACA500644011MAPTc.630C>A (p.Ala210=)
c.543C>A (p.Ala181=)
c.717C>A (p.Ala239=)
n.581C>A
c.1893C>A (p.Ala631=)
c.1695C>A (p.Ala565=)
c.1668C>A (p.Ala556=)
c.1722C>A (p.Ala574=)
n.671C>A
n.6002C>A
c.1980C>A (p.Ala660=)
c.1806C>A (p.Ala602=)
c.1782C>A (p.Ala594=)
c.915C>A (p.Ala305=)
c.828C>A (p.Ala276=)
c.741C>A (p.Ala247=)
n.641C>A
17g.45996559C>GCA500644013MAPTc.630C>G (p.Ala210=)
c.543C>G (p.Ala181=)
c.717C>G (p.Ala239=)
n.581C>G
c.1893C>G (p.Ala631=)
c.1695C>G (p.Ala565=)
c.1668C>G (p.Ala556=)
c.1722C>G (p.Ala574=)
n.671C>G
n.6002C>G
c.1980C>G (p.Ala660=)
c.1806C>G (p.Ala602=)
c.1782C>G (p.Ala594=)
c.915C>G (p.Ala305=)
c.828C>G (p.Ala276=)
c.741C>G (p.Ala247=)
n.641C>G
17g.45996559C>TCA500644012MAPTc.630C>T (p.Ala210=)
c.543C>T (p.Ala181=)
c.717C>T (p.Ala239=)
n.581C>T
c.1893C>T (p.Ala631=)
c.1695C>T (p.Ala565=)
c.1668C>T (p.Ala556=)
c.1722C>T (p.Ala574=)
n.671C>T
n.6002C>T
c.1980C>T (p.Ala660=)
c.1806C>T (p.Ala602=)
c.1782C>T (p.Ala594=)
c.915C>T (p.Ala305=)
c.828C>T (p.Ala276=)
c.741C>T (p.Ala247=)
n.641C>T
17g.45996560A>CCA399978254MAPTc.631A>C (p.Lys211Gln)
c.544A>C (p.Lys182Gln)
c.718A>C (p.Lys240Gln)
n.582A>C
c.1894A>C (p.Lys632Gln)
c.1696A>C (p.Lys566Gln)
c.1669A>C (p.Lys557Gln)
c.1723A>C (p.Lys575Gln)
n.672A>C
n.6003A>C
c.1981A>C (p.Lys661Gln)
c.1807A>C (p.Lys603Gln)
c.1783A>C (p.Lys595Gln)
c.916A>C (p.Lys306Gln)
c.829A>C (p.Lys277Gln)
c.742A>C (p.Lys248Gln)
n.642A>C
17g.45996560A>GCA399978256MAPTc.631A>G (p.Lys211Glu)
c.544A>G (p.Lys182Glu)
c.718A>G (p.Lys240Glu)
n.582A>G
c.1894A>G (p.Lys632Glu)
c.1696A>G (p.Lys566Glu)
c.1669A>G (p.Lys557Glu)
c.1723A>G (p.Lys575Glu)
n.672A>G
n.6003A>G
c.1981A>G (p.Lys661Glu)
c.1807A>G (p.Lys603Glu)
c.1783A>G (p.Lys595Glu)
c.916A>G (p.Lys306Glu)
c.829A>G (p.Lys277Glu)
c.742A>G (p.Lys248Glu)
n.642A>G
17g.45996560A>TCA399978255MAPTc.631A>T (p.Lys211Ter)
c.544A>T (p.Lys182Ter)
c.718A>T (p.Lys240Ter)
n.582A>T
c.1894A>T (p.Lys632Ter)
c.1696A>T (p.Lys566Ter)
c.1669A>T (p.Lys557Ter)
c.1723A>T (p.Lys575Ter)
n.672A>T
n.6003A>T
c.1981A>T (p.Lys661Ter)
c.1807A>T (p.Lys603Ter)
c.1783A>T (p.Lys595Ter)
c.916A>T (p.Lys306Ter)
c.829A>T (p.Lys277Ter)
c.742A>T (p.Lys248Ter)
n.642A>T
17g.45996561A>CCA399978257MAPTc.632A>C (p.Lys211Thr)
c.545A>C (p.Lys182Thr)
c.719A>C (p.Lys240Thr)
n.583A>C
c.1895A>C (p.Lys632Thr)
c.1697A>C (p.Lys566Thr)
c.1670A>C (p.Lys557Thr)
c.1724A>C (p.Lys575Thr)
n.673A>C
n.6004A>C
c.1982A>C (p.Lys661Thr)
c.1808A>C (p.Lys603Thr)
c.1784A>C (p.Lys595Thr)
c.917A>C (p.Lys306Thr)
c.830A>C (p.Lys277Thr)
c.743A>C (p.Lys248Thr)
n.643A>C
17g.45996561A>GCA399978259MAPTc.632A>G (p.Lys211Arg)
c.545A>G (p.Lys182Arg)
c.719A>G (p.Lys240Arg)
n.583A>G
c.1895A>G (p.Lys632Arg)
c.1697A>G (p.Lys566Arg)
c.1670A>G (p.Lys557Arg)
c.1724A>G (p.Lys575Arg)
n.673A>G
n.6004A>G
c.1982A>G (p.Lys661Arg)
c.1808A>G (p.Lys603Arg)
c.1784A>G (p.Lys595Arg)
c.917A>G (p.Lys306Arg)
c.830A>G (p.Lys277Arg)
c.743A>G (p.Lys248Arg)
n.643A>G
 gnomAD v4
17g.45996561A>TCA399978258MAPTc.632A>T (p.Lys211Met)
c.545A>T (p.Lys182Met)
c.719A>T (p.Lys240Met)
n.583A>T
c.1895A>T (p.Lys632Met)
c.1697A>T (p.Lys566Met)
c.1670A>T (p.Lys557Met)
c.1724A>T (p.Lys575Met)
n.673A>T
n.6004A>T
c.1982A>T (p.Lys661Met)
c.1808A>T (p.Lys603Met)
c.1784A>T (p.Lys595Met)
c.917A>T (p.Lys306Met)
c.830A>T (p.Lys277Met)
c.743A>T (p.Lys248Met)
n.643A>T
17g.45996562G>ACA500644014MAPTc.633G>A (p.Lys211=)
c.546G>A (p.Lys182=)
c.720G>A (p.Lys240=)
n.584G>A
c.1896G>A (p.Lys632=)
c.1698G>A (p.Lys566=)
c.1671G>A (p.Lys557=)
c.1725G>A (p.Lys575=)
n.674G>A
n.6005G>A
c.1983G>A (p.Lys661=)
c.1809G>A (p.Lys603=)
c.1785G>A (p.Lys595=)
c.918G>A (p.Lys306=)
c.831G>A (p.Lys277=)
c.744G>A (p.Lys248=)
n.644G>A
 gnomAD v4
17g.45996562G>CCA399978260MAPTc.633G>C (p.Lys211Asn)
c.546G>C (p.Lys182Asn)
c.720G>C (p.Lys240Asn)
n.584G>C
c.1896G>C (p.Lys632Asn)
c.1698G>C (p.Lys566Asn)
c.1671G>C (p.Lys557Asn)
c.1725G>C (p.Lys575Asn)
n.674G>C
n.6005G>C
c.1983G>C (p.Lys661Asn)
c.1809G>C (p.Lys603Asn)
c.1785G>C (p.Lys595Asn)
c.918G>C (p.Lys306Asn)
c.831G>C (p.Lys277Asn)
c.744G>C (p.Lys248Asn)
n.644G>C
17g.45996562G>TCA399978261MAPTc.633G>T (p.Lys211Asn)
c.546G>T (p.Lys182Asn)
c.720G>T (p.Lys240Asn)
n.584G>T
c.1896G>T (p.Lys632Asn)
c.1698G>T (p.Lys566Asn)
c.1671G>T (p.Lys557Asn)
c.1725G>T (p.Lys575Asn)
n.674G>T
n.6005G>T
c.1983G>T (p.Lys661Asn)
c.1809G>T (p.Lys603Asn)
c.1785G>T (p.Lys595Asn)
c.918G>T (p.Lys306Asn)
c.831G>T (p.Lys277Asn)
c.744G>T (p.Lys248Asn)
n.644G>T
17g.45996563A=CA2262095020MAPTc.634A= (p.Ser212=)
c.547A= (p.Ser183=)
c.721A= (p.Ser241=)
n.585A=
c.1897A= (p.Ser633=)
c.1699A= (p.Ser567=)
c.1672A= (p.Ser558=)
c.1726A= (p.Ser576=)
n.675A=
n.6006A=
c.1984A= (p.Ser662=)
c.1810A= (p.Ser604=)
c.1786A= (p.Ser596=)
c.919A= (p.Ser307=)
c.832A= (p.Ser278=)
c.745A= (p.Ser249=)
n.645A=
17g.45996563A>CCA399978262MAPTc.634A>C (p.Ser212Arg)
c.547A>C (p.Ser183Arg)
c.721A>C (p.Ser241Arg)
n.585A>C
c.1897A>C (p.Ser633Arg)
c.1699A>C (p.Ser567Arg)
c.1672A>C (p.Ser558Arg)
c.1726A>C (p.Ser576Arg)
n.675A>C
n.6006A>C
c.1984A>C (p.Ser662Arg)
c.1810A>C (p.Ser604Arg)
c.1786A>C (p.Ser596Arg)
c.919A>C (p.Ser307Arg)
c.832A>C (p.Ser278Arg)
c.745A>C (p.Ser249Arg)
n.645A>C
17g.45996563A>GCA8618054MAPTc.634A>G (p.Ser212Gly)
c.547A>G (p.Ser183Gly)
c.721A>G (p.Ser241Gly)
n.585A>G
c.1897A>G (p.Ser633Gly)
c.1699A>G (p.Ser567Gly)
c.1672A>G (p.Ser558Gly)
c.1726A>G (p.Ser576Gly)
n.675A>G
n.6006A>G
c.1984A>G (p.Ser662Gly)
c.1810A>G (p.Ser604Gly)
c.1786A>G (p.Ser596Gly)
c.919A>G (p.Ser307Gly)
c.832A>G (p.Ser278Gly)
c.745A>G (p.Ser249Gly)
n.645A>G
 dbSNP ExAC
17g.45996563A>TCA399978263MAPTc.634A>T (p.Ser212Cys)
c.547A>T (p.Ser183Cys)
c.721A>T (p.Ser241Cys)
n.585A>T
c.1897A>T (p.Ser633Cys)
c.1699A>T (p.Ser567Cys)
c.1672A>T (p.Ser558Cys)
c.1726A>T (p.Ser576Cys)
n.675A>T
n.6006A>T
c.1984A>T (p.Ser662Cys)
c.1810A>T (p.Ser604Cys)
c.1786A>T (p.Ser596Cys)
c.919A>T (p.Ser307Cys)
c.832A>T (p.Ser278Cys)
c.745A>T (p.Ser249Cys)
n.645A>T
17g.45996564G>ACA399978264MAPTc.635G>A (p.Ser212Asn)
c.548G>A (p.Ser183Asn)
c.722G>A (p.Ser241Asn)
n.586G>A
c.1898G>A (p.Ser633Asn)
c.1700G>A (p.Ser567Asn)
c.1673G>A (p.Ser558Asn)
c.1727G>A (p.Ser576Asn)
n.676G>A
n.6007G>A
c.1985G>A (p.Ser662Asn)
c.1811G>A (p.Ser604Asn)
c.1787G>A (p.Ser596Asn)
c.920G>A (p.Ser307Asn)
c.833G>A (p.Ser278Asn)
c.746G>A (p.Ser249Asn)
n.646G>A
17g.45996564G>CCA399978265MAPTc.635G>C (p.Ser212Thr)
c.548G>C (p.Ser183Thr)
c.722G>C (p.Ser241Thr)
n.586G>C
c.1898G>C (p.Ser633Thr)
c.1700G>C (p.Ser567Thr)
c.1673G>C (p.Ser558Thr)
c.1727G>C (p.Ser576Thr)
n.676G>C
n.6007G>C
c.1985G>C (p.Ser662Thr)
c.1811G>C (p.Ser604Thr)
c.1787G>C (p.Ser596Thr)
c.920G>C (p.Ser307Thr)
c.833G>C (p.Ser278Thr)
c.746G>C (p.Ser249Thr)
n.646G>C
17g.45996564G>TCA399978266MAPTc.635G>T (p.Ser212Ile)
c.548G>T (p.Ser183Ile)
c.722G>T (p.Ser241Ile)
n.586G>T
c.1898G>T (p.Ser633Ile)
c.1700G>T (p.Ser567Ile)
c.1673G>T (p.Ser558Ile)
c.1727G>T (p.Ser576Ile)
n.676G>T
n.6007G>T
c.1985G>T (p.Ser662Ile)
c.1811G>T (p.Ser604Ile)
c.1787G>T (p.Ser596Ile)
c.920G>T (p.Ser307Ile)
c.833G>T (p.Ser278Ile)
c.746G>T (p.Ser249Ile)
n.646G>T
17g.45996565C>ACA399978267MAPTc.636C>A (p.Ser212Arg)
c.549C>A (p.Ser183Arg)
c.723C>A (p.Ser241Arg)
n.587C>A
c.1899C>A (p.Ser633Arg)
c.1701C>A (p.Ser567Arg)
c.1674C>A (p.Ser558Arg)
c.1728C>A (p.Ser576Arg)
n.677C>A
n.6008C>A
c.1986C>A (p.Ser662Arg)
c.1812C>A (p.Ser604Arg)
c.1788C>A (p.Ser596Arg)
c.921C>A (p.Ser307Arg)
c.834C>A (p.Ser278Arg)
c.747C>A (p.Ser249Arg)
n.647C>A
 gnomAD v4
17g.45996565C=CA2262095021MAPTc.636C= (p.Ser212=)
c.549C= (p.Ser183=)
c.723C= (p.Ser241=)
n.587C=
c.1899C= (p.Ser633=)
c.1701C= (p.Ser567=)
c.1674C= (p.Ser558=)
c.1728C= (p.Ser576=)
n.677C=
n.6008C=
c.1986C= (p.Ser662=)
c.1812C= (p.Ser604=)
c.1788C= (p.Ser596=)
c.921C= (p.Ser307=)
c.834C= (p.Ser278=)
c.747C= (p.Ser249=)
n.647C=
17g.45996565C>GCA399978268MAPTc.636C>G (p.Ser212Arg)
c.549C>G (p.Ser183Arg)
c.723C>G (p.Ser241Arg)
n.587C>G
c.1899C>G (p.Ser633Arg)
c.1701C>G (p.Ser567Arg)
c.1674C>G (p.Ser558Arg)
c.1728C>G (p.Ser576Arg)
n.677C>G
n.6008C>G
c.1986C>G (p.Ser662Arg)
c.1812C>G (p.Ser604Arg)
c.1788C>G (p.Ser596Arg)
c.921C>G (p.Ser307Arg)
c.834C>G (p.Ser278Arg)
c.747C>G (p.Ser249Arg)
n.647C>G
17g.45996565C>TCA500644015MAPTc.636C>T (p.Ser212=)
c.549C>T (p.Ser183=)
c.723C>T (p.Ser241=)
n.587C>T
c.1899C>T (p.Ser633=)
c.1701C>T (p.Ser567=)
c.1674C>T (p.Ser558=)
c.1728C>T (p.Ser576=)
n.677C>T
n.6008C>T
c.1986C>T (p.Ser662=)
c.1812C>T (p.Ser604=)
c.1788C>T (p.Ser596=)
c.921C>T (p.Ser307=)
c.834C>T (p.Ser278=)
c.747C>T (p.Ser249=)
n.647C>T
 dbSNP gnomAD v2
17g.45996566C>ACA399978269MAPTc.637C>A (p.Arg213Ser)
c.550C>A (p.Arg184Ser)
c.724C>A (p.Arg242Ser)
n.588C>A
c.1900C>A (p.Arg634Ser)
c.1702C>A (p.Arg568Ser)
c.1675C>A (p.Arg559Ser)
c.1729C>A (p.Arg577Ser)
n.678C>A
n.6009C>A
c.1987C>A (p.Arg663Ser)
c.1813C>A (p.Arg605Ser)
c.1789C>A (p.Arg597Ser)
c.922C>A (p.Arg308Ser)
c.835C>A (p.Arg279Ser)
c.748C>A (p.Arg250Ser)
n.648C>A
 ClinVar
17g.45996566C>GCA399978270MAPTc.637C>G (p.Arg213Gly)
c.550C>G (p.Arg184Gly)
c.724C>G (p.Arg242Gly)
n.588C>G
c.1900C>G (p.Arg634Gly)
c.1702C>G (p.Arg568Gly)
c.1675C>G (p.Arg559Gly)
c.1729C>G (p.Arg577Gly)
n.678C>G
n.6009C>G
c.1987C>G (p.Arg663Gly)
c.1813C>G (p.Arg605Gly)
c.1789C>G (p.Arg597Gly)
c.922C>G (p.Arg308Gly)
c.835C>G (p.Arg279Gly)
c.748C>G (p.Arg250Gly)
n.648C>G
17g.45996566C>TCA399978271MAPTc.637C>T (p.Arg213Cys)
c.550C>T (p.Arg184Cys)
c.724C>T (p.Arg242Cys)
n.588C>T
c.1900C>T (p.Arg634Cys)
c.1702C>T (p.Arg568Cys)
c.1675C>T (p.Arg559Cys)
c.1729C>T (p.Arg577Cys)
n.678C>T
n.6009C>T
c.1987C>T (p.Arg663Cys)
c.1813C>T (p.Arg605Cys)
c.1789C>T (p.Arg597Cys)
c.922C>T (p.Arg308Cys)
c.835C>T (p.Arg279Cys)
c.748C>T (p.Arg250Cys)
n.648C>T
 ClinVar gnomAD v4
17g.45996567G>ACA399978274MAPTc.638G>A (p.Arg213His)
c.551G>A (p.Arg184His)
c.725G>A (p.Arg242His)
n.589G>A
c.1901G>A (p.Arg634His)
c.1703G>A (p.Arg568His)
c.1676G>A (p.Arg559His)
c.1730G>A (p.Arg577His)
n.679G>A
n.6010G>A
c.1988G>A (p.Arg663His)
c.1814G>A (p.Arg605His)
c.1790G>A (p.Arg597His)
c.923G>A (p.Arg308His)
c.836G>A (p.Arg279His)
c.749G>A (p.Arg250His)
n.649G>A
 dbSNP gnomAD v4
17g.45996567G>CCA399978273MAPTc.638G>C (p.Arg213Pro)
c.551G>C (p.Arg184Pro)
c.725G>C (p.Arg242Pro)
n.589G>C
c.1901G>C (p.Arg634Pro)
c.1703G>C (p.Arg568Pro)
c.1676G>C (p.Arg559Pro)
c.1730G>C (p.Arg577Pro)
n.679G>C
n.6010G>C
c.1988G>C (p.Arg663Pro)
c.1814G>C (p.Arg605Pro)
c.1790G>C (p.Arg597Pro)
c.923G>C (p.Arg308Pro)
c.836G>C (p.Arg279Pro)
c.749G>C (p.Arg250Pro)
n.649G>C
17g.45996567G=CA2262095022MAPTc.638G= (p.Arg213=)
c.551G= (p.Arg184=)
c.725G= (p.Arg242=)
n.589G=
c.1901G= (p.Arg634=)
c.1703G= (p.Arg568=)
c.1676G= (p.Arg559=)
c.1730G= (p.Arg577=)
n.679G=
n.6010G=
c.1988G= (p.Arg663=)
c.1814G= (p.Arg605=)
c.1790G= (p.Arg597=)
c.923G= (p.Arg308=)
c.836G= (p.Arg279=)
c.749G= (p.Arg250=)
n.649G=
17g.45996567G>TCA399978272MAPTc.638G>T (p.Arg213Leu)
c.551G>T (p.Arg184Leu)
c.725G>T (p.Arg242Leu)
n.589G>T
c.1901G>T (p.Arg634Leu)
c.1703G>T (p.Arg568Leu)
c.1676G>T (p.Arg559Leu)
c.1730G>T (p.Arg577Leu)
n.679G>T
n.6010G>T
c.1988G>T (p.Arg663Leu)
c.1814G>T (p.Arg605Leu)
c.1790G>T (p.Arg597Leu)
c.923G>T (p.Arg308Leu)
c.836G>T (p.Arg279Leu)
c.749G>T (p.Arg250Leu)
n.649G>T
17g.45996568C>ACA500644017MAPTc.639C>A (p.Arg213=)
c.552C>A (p.Arg184=)
c.726C>A (p.Arg242=)
n.590C>A
c.1902C>A (p.Arg634=)
c.1704C>A (p.Arg568=)
c.1677C>A (p.Arg559=)
c.1731C>A (p.Arg577=)
n.680C>A
n.6011C>A
c.1989C>A (p.Arg663=)
c.1815C>A (p.Arg605=)
c.1791C>A (p.Arg597=)
c.924C>A (p.Arg308=)
c.837C>A (p.Arg279=)
c.750C>A (p.Arg250=)
n.650C>A
17g.45996568C=CA2262095023MAPTc.639C= (p.Arg213=)
c.552C= (p.Arg184=)
c.726C= (p.Arg242=)
n.590C=
c.1902C= (p.Arg634=)
c.1704C= (p.Arg568=)
c.1677C= (p.Arg559=)
c.1731C= (p.Arg577=)
n.680C=
n.6011C=
c.1989C= (p.Arg663=)
c.1815C= (p.Arg605=)
c.1791C= (p.Arg597=)
c.924C= (p.Arg308=)
c.837C= (p.Arg279=)
c.750C= (p.Arg250=)
n.650C=
17g.45996568C>GCA8618055MAPTc.639C>G (p.Arg213=)
c.552C>G (p.Arg184=)
c.726C>G (p.Arg242=)
n.590C>G
c.1902C>G (p.Arg634=)
c.1704C>G (p.Arg568=)
c.1677C>G (p.Arg559=)
c.1731C>G (p.Arg577=)
n.680C>G
n.6011C>G
c.1989C>G (p.Arg663=)
c.1815C>G (p.Arg605=)
c.1791C>G (p.Arg597=)
c.924C>G (p.Arg308=)
c.837C>G (p.Arg279=)
c.750C>G (p.Arg250=)
n.650C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996568C>TCA500644016MAPTc.639C>T (p.Arg213=)
c.552C>T (p.Arg184=)
c.726C>T (p.Arg242=)
n.590C>T
c.1902C>T (p.Arg634=)
c.1704C>T (p.Arg568=)
c.1677C>T (p.Arg559=)
c.1731C>T (p.Arg577=)
n.680C>T
n.6011C>T
c.1989C>T (p.Arg663=)
c.1815C>T (p.Arg605=)
c.1791C>T (p.Arg597=)
c.924C>T (p.Arg308=)
c.837C>T (p.Arg279=)
c.750C>T (p.Arg250=)
n.650C>T
 gnomAD v4
17g.45996569C>ACA399978275MAPTc.640C>A (p.Leu214Met)
c.553C>A (p.Leu185Met)
c.727C>A (p.Leu243Met)
n.591C>A
c.1903C>A (p.Leu635Met)
c.1705C>A (p.Leu569Met)
c.1678C>A (p.Leu560Met)
c.1732C>A (p.Leu578Met)
n.681C>A
n.6012C>A
c.1990C>A (p.Leu664Met)
c.1816C>A (p.Leu606Met)
c.1792C>A (p.Leu598Met)
c.925C>A (p.Leu309Met)
c.838C>A (p.Leu280Met)
c.751C>A (p.Leu251Met)
n.651C>A
17g.45996569C>GCA399978276MAPTc.640C>G (p.Leu214Val)
c.553C>G (p.Leu185Val)
c.727C>G (p.Leu243Val)
n.591C>G
c.1903C>G (p.Leu635Val)
c.1705C>G (p.Leu569Val)
c.1678C>G (p.Leu560Val)
c.1732C>G (p.Leu578Val)
n.681C>G
n.6012C>G
c.1990C>G (p.Leu664Val)
c.1816C>G (p.Leu606Val)
c.1792C>G (p.Leu598Val)
c.925C>G (p.Leu309Val)
c.838C>G (p.Leu280Val)
c.751C>G (p.Leu251Val)
n.651C>G
17g.45996569C>TCA500644018MAPTc.640C>T (p.Leu214=)
c.553C>T (p.Leu185=)
c.727C>T (p.Leu243=)
n.591C>T
c.1903C>T (p.Leu635=)
c.1705C>T (p.Leu569=)
c.1678C>T (p.Leu560=)
c.1732C>T (p.Leu578=)
n.681C>T
n.6012C>T
c.1990C>T (p.Leu664=)
c.1816C>T (p.Leu606=)
c.1792C>T (p.Leu598=)
c.925C>T (p.Leu309=)
c.838C>T (p.Leu280=)
c.751C>T (p.Leu251=)
n.651C>T
17g.45996570T>ACA399978277MAPTc.641T>A (p.Leu214Gln)
c.554T>A (p.Leu185Gln)
c.728T>A (p.Leu243Gln)
n.592T>A
c.1904T>A (p.Leu635Gln)
c.1706T>A (p.Leu569Gln)
c.1679T>A (p.Leu560Gln)
c.1733T>A (p.Leu578Gln)
n.682T>A
n.6013T>A
c.1991T>A (p.Leu664Gln)
c.1817T>A (p.Leu606Gln)
c.1793T>A (p.Leu598Gln)
c.926T>A (p.Leu309Gln)
c.839T>A (p.Leu280Gln)
c.752T>A (p.Leu251Gln)
n.652T>A
17g.45996570T>CCA399978278MAPTc.641T>C (p.Leu214Pro)
c.554T>C (p.Leu185Pro)
c.728T>C (p.Leu243Pro)
n.592T>C
c.1904T>C (p.Leu635Pro)
c.1706T>C (p.Leu569Pro)
c.1679T>C (p.Leu560Pro)
c.1733T>C (p.Leu578Pro)
n.682T>C
n.6013T>C
c.1991T>C (p.Leu664Pro)
c.1817T>C (p.Leu606Pro)
c.1793T>C (p.Leu598Pro)
c.926T>C (p.Leu309Pro)
c.839T>C (p.Leu280Pro)
c.752T>C (p.Leu251Pro)
n.652T>C
17g.45996570T>GCA399978279MAPTc.641T>G (p.Leu214Arg)
c.554T>G (p.Leu185Arg)
c.728T>G (p.Leu243Arg)
n.592T>G
c.1904T>G (p.Leu635Arg)
c.1706T>G (p.Leu569Arg)
c.1679T>G (p.Leu560Arg)
c.1733T>G (p.Leu578Arg)
n.682T>G
n.6013T>G
c.1991T>G (p.Leu664Arg)
c.1817T>G (p.Leu606Arg)
c.1793T>G (p.Leu598Arg)
c.926T>G (p.Leu309Arg)
c.839T>G (p.Leu280Arg)
c.752T>G (p.Leu251Arg)
n.652T>G
17g.45996571G>ACA500644020MAPTc.642G>A (p.Leu214=)
c.555G>A (p.Leu185=)
c.729G>A (p.Leu243=)
n.593G>A
c.1905G>A (p.Leu635=)
c.1707G>A (p.Leu569=)
c.1680G>A (p.Leu560=)
c.1734G>A (p.Leu578=)
n.683G>A
n.6014G>A
c.1992G>A (p.Leu664=)
c.1818G>A (p.Leu606=)
c.1794G>A (p.Leu598=)
c.927G>A (p.Leu309=)
c.840G>A (p.Leu280=)
c.753G>A (p.Leu251=)
n.653G>A
17g.45996571G>CCA500644019MAPTc.642G>C (p.Leu214=)
c.555G>C (p.Leu185=)
c.729G>C (p.Leu243=)
n.593G>C
c.1905G>C (p.Leu635=)
c.1707G>C (p.Leu569=)
c.1680G>C (p.Leu560=)
c.1734G>C (p.Leu578=)
n.683G>C
n.6014G>C
c.1992G>C (p.Leu664=)
c.1818G>C (p.Leu606=)
c.1794G>C (p.Leu598=)
c.927G>C (p.Leu309=)
c.840G>C (p.Leu280=)
c.753G>C (p.Leu251=)
n.653G>C
17g.45996571G>TCA500644021MAPTc.642G>T (p.Leu214=)
c.555G>T (p.Leu185=)
c.729G>T (p.Leu243=)
n.593G>T
c.1905G>T (p.Leu635=)
c.1707G>T (p.Leu569=)
c.1680G>T (p.Leu560=)
c.1734G>T (p.Leu578=)
n.683G>T
n.6014G>T
c.1992G>T (p.Leu664=)
c.1818G>T (p.Leu606=)
c.1794G>T (p.Leu598=)
c.927G>T (p.Leu309=)
c.840G>T (p.Leu280=)
c.753G>T (p.Leu251=)
n.653G>T
17g.45996572C>ACA399978280MAPTc.643C>A (p.Gln215Lys)
c.556C>A (p.Gln186Lys)
c.730C>A (p.Gln244Lys)
n.594C>A
c.1906C>A (p.Gln636Lys)
c.1708C>A (p.Gln570Lys)
c.1681C>A (p.Gln561Lys)
c.1735C>A (p.Gln579Lys)
n.684C>A
n.6015C>A
c.1993C>A (p.Gln665Lys)
c.1819C>A (p.Gln607Lys)
c.1795C>A (p.Gln599Lys)
c.928C>A (p.Gln310Lys)
c.841C>A (p.Gln281Lys)
c.754C>A (p.Gln252Lys)
n.654C>A
17g.45996572C>GCA399978281MAPTc.643C>G (p.Gln215Glu)
c.556C>G (p.Gln186Glu)
c.730C>G (p.Gln244Glu)
n.594C>G
c.1906C>G (p.Gln636Glu)
c.1708C>G (p.Gln570Glu)
c.1681C>G (p.Gln561Glu)
c.1735C>G (p.Gln579Glu)
n.684C>G
n.6015C>G
c.1993C>G (p.Gln665Glu)
c.1819C>G (p.Gln607Glu)
c.1795C>G (p.Gln599Glu)
c.928C>G (p.Gln310Glu)
c.841C>G (p.Gln281Glu)
c.754C>G (p.Gln252Glu)
n.654C>G
17g.45996572C>TCA399978282MAPTc.643C>T (p.Gln215Ter)
c.556C>T (p.Gln186Ter)
c.730C>T (p.Gln244Ter)
n.594C>T
c.1906C>T (p.Gln636Ter)
c.1708C>T (p.Gln570Ter)
c.1681C>T (p.Gln561Ter)
c.1735C>T (p.Gln579Ter)
n.684C>T
n.6015C>T
c.1993C>T (p.Gln665Ter)
c.1819C>T (p.Gln607Ter)
c.1795C>T (p.Gln599Ter)
c.928C>T (p.Gln310Ter)
c.841C>T (p.Gln281Ter)
c.754C>T (p.Gln252Ter)
n.654C>T
17g.45996573A=CA2262095024MAPTc.644A= (p.Gln215=)
c.557A= (p.Gln186=)
c.731A= (p.Gln244=)
n.595A=
c.1907A= (p.Gln636=)
c.1709A= (p.Gln570=)
c.1682A= (p.Gln561=)
c.1736A= (p.Gln579=)
n.685A=
n.6016A=
c.1994A= (p.Gln665=)
c.1820A= (p.Gln607=)
c.1796A= (p.Gln599=)
c.929A= (p.Gln310=)
c.842A= (p.Gln281=)
c.755A= (p.Gln252=)
n.655A=
17g.45996573A>CCA399978283MAPTc.644A>C (p.Gln215Pro)
c.557A>C (p.Gln186Pro)
c.731A>C (p.Gln244Pro)
n.595A>C
c.1907A>C (p.Gln636Pro)
c.1709A>C (p.Gln570Pro)
c.1682A>C (p.Gln561Pro)
c.1736A>C (p.Gln579Pro)
n.685A>C
n.6016A>C
c.1994A>C (p.Gln665Pro)
c.1820A>C (p.Gln607Pro)
c.1796A>C (p.Gln599Pro)
c.929A>C (p.Gln310Pro)
c.842A>C (p.Gln281Pro)
c.755A>C (p.Gln252Pro)
n.655A>C
 dbSNP
17g.45996573A>GCA399978284MAPTc.644A>G (p.Gln215Arg)
c.557A>G (p.Gln186Arg)
c.731A>G (p.Gln244Arg)
n.595A>G
c.1907A>G (p.Gln636Arg)
c.1709A>G (p.Gln570Arg)
c.1682A>G (p.Gln561Arg)
c.1736A>G (p.Gln579Arg)
n.685A>G
n.6016A>G
c.1994A>G (p.Gln665Arg)
c.1820A>G (p.Gln607Arg)
c.1796A>G (p.Gln599Arg)
c.929A>G (p.Gln310Arg)
c.842A>G (p.Gln281Arg)
c.755A>G (p.Gln252Arg)
n.655A>G
17g.45996573A>TCA399978285MAPTc.644A>T (p.Gln215Leu)
c.557A>T (p.Gln186Leu)
c.731A>T (p.Gln244Leu)
n.595A>T
c.1907A>T (p.Gln636Leu)
c.1709A>T (p.Gln570Leu)
c.1682A>T (p.Gln561Leu)
c.1736A>T (p.Gln579Leu)
n.685A>T
n.6016A>T
c.1994A>T (p.Gln665Leu)
c.1820A>T (p.Gln607Leu)
c.1796A>T (p.Gln599Leu)
c.929A>T (p.Gln310Leu)
c.842A>T (p.Gln281Leu)
c.755A>T (p.Gln252Leu)
n.655A>T
17g.45996574G>ACA500644022MAPTc.645G>A (p.Gln215=)
c.558G>A (p.Gln186=)
c.732G>A (p.Gln244=)
n.596G>A
c.1908G>A (p.Gln636=)
c.1710G>A (p.Gln570=)
c.1683G>A (p.Gln561=)
c.1737G>A (p.Gln579=)
n.686G>A
n.6017G>A
c.1995G>A (p.Gln665=)
c.1821G>A (p.Gln607=)
c.1797G>A (p.Gln599=)
c.930G>A (p.Gln310=)
c.843G>A (p.Gln281=)
c.756G>A (p.Gln252=)
n.656G>A
17g.45996574G>CCA399978286MAPTc.645G>C (p.Gln215His)
c.558G>C (p.Gln186His)
c.732G>C (p.Gln244His)
n.596G>C
c.1908G>C (p.Gln636His)
c.1710G>C (p.Gln570His)
c.1683G>C (p.Gln561His)
c.1737G>C (p.Gln579His)
n.686G>C
n.6017G>C
c.1995G>C (p.Gln665His)
c.1821G>C (p.Gln607His)
c.1797G>C (p.Gln599His)
c.930G>C (p.Gln310His)
c.843G>C (p.Gln281His)
c.756G>C (p.Gln252His)
n.656G>C
 gnomAD v4
17g.45996574G>TCA399978287MAPTc.645G>T (p.Gln215His)
c.558G>T (p.Gln186His)
c.732G>T (p.Gln244His)
n.596G>T
c.1908G>T (p.Gln636His)
c.1710G>T (p.Gln570His)
c.1683G>T (p.Gln561His)
c.1737G>T (p.Gln579His)
n.686G>T
n.6017G>T
c.1995G>T (p.Gln665His)
c.1821G>T (p.Gln607His)
c.1797G>T (p.Gln599His)
c.930G>T (p.Gln310His)
c.843G>T (p.Gln281His)
c.756G>T (p.Gln252His)
n.656G>T
17g.45996575A>CCA399978288MAPTc.646A>C (p.Thr216Pro)
c.559A>C (p.Thr187Pro)
c.733A>C (p.Thr245Pro)
n.597A>C
c.1909A>C (p.Thr637Pro)
c.1711A>C (p.Thr571Pro)
c.1684A>C (p.Thr562Pro)
c.1738A>C (p.Thr580Pro)
n.687A>C
n.6018A>C
c.1996A>C (p.Thr666Pro)
c.1822A>C (p.Thr608Pro)
c.1798A>C (p.Thr600Pro)
c.931A>C (p.Thr311Pro)
c.844A>C (p.Thr282Pro)
c.757A>C (p.Thr253Pro)
n.657A>C
17g.45996575A>GCA399978289MAPTc.646A>G (p.Thr216Ala)
c.559A>G (p.Thr187Ala)
c.733A>G (p.Thr245Ala)
n.597A>G
c.1909A>G (p.Thr637Ala)
c.1711A>G (p.Thr571Ala)
c.1684A>G (p.Thr562Ala)
c.1738A>G (p.Thr580Ala)
n.687A>G
n.6018A>G
c.1996A>G (p.Thr666Ala)
c.1822A>G (p.Thr608Ala)
c.1798A>G (p.Thr600Ala)
c.931A>G (p.Thr311Ala)
c.844A>G (p.Thr282Ala)
c.757A>G (p.Thr253Ala)
n.657A>G
17g.45996575A>TCA399978290MAPTc.646A>T (p.Thr216Ser)
c.559A>T (p.Thr187Ser)
c.733A>T (p.Thr245Ser)
n.597A>T
c.1909A>T (p.Thr637Ser)
c.1711A>T (p.Thr571Ser)
c.1684A>T (p.Thr562Ser)
c.1738A>T (p.Thr580Ser)
n.687A>T
n.6018A>T
c.1996A>T (p.Thr666Ser)
c.1822A>T (p.Thr608Ser)
c.1798A>T (p.Thr600Ser)
c.931A>T (p.Thr311Ser)
c.844A>T (p.Thr282Ser)
c.757A>T (p.Thr253Ser)
n.657A>T
17g.45996576C>ACA399978291MAPTc.647C>A (p.Thr216Lys)
c.560C>A (p.Thr187Lys)
c.734C>A (p.Thr245Lys)
n.598C>A
c.1910C>A (p.Thr637Lys)
c.1712C>A (p.Thr571Lys)
c.1685C>A (p.Thr562Lys)
c.1739C>A (p.Thr580Lys)
n.688C>A
n.6019C>A
c.1997C>A (p.Thr666Lys)
c.1823C>A (p.Thr608Lys)
c.1799C>A (p.Thr600Lys)
c.932C>A (p.Thr311Lys)
c.845C>A (p.Thr282Lys)
c.758C>A (p.Thr253Lys)
n.658C>A
17g.45996576C=CA2262095025MAPTc.647C= (p.Thr216=)
c.560C= (p.Thr187=)
c.734C= (p.Thr245=)
n.598C=
c.1910C= (p.Thr637=)
c.1712C= (p.Thr571=)
c.1685C= (p.Thr562=)
c.1739C= (p.Thr580=)
n.688C=
n.6019C=
c.1997C= (p.Thr666=)
c.1823C= (p.Thr608=)
c.1799C= (p.Thr600=)
c.932C= (p.Thr311=)
c.845C= (p.Thr282=)
c.758C= (p.Thr253=)
n.658C=
17g.45996576C>GCA399978292MAPTc.647C>G (p.Thr216Arg)
c.560C>G (p.Thr187Arg)
c.734C>G (p.Thr245Arg)
n.598C>G
c.1910C>G (p.Thr637Arg)
c.1712C>G (p.Thr571Arg)
c.1685C>G (p.Thr562Arg)
c.1739C>G (p.Thr580Arg)
n.688C>G
n.6019C>G
c.1997C>G (p.Thr666Arg)
c.1823C>G (p.Thr608Arg)
c.1799C>G (p.Thr600Arg)
c.932C>G (p.Thr311Arg)
c.845C>G (p.Thr282Arg)
c.758C>G (p.Thr253Arg)
n.658C>G
 dbSNP gnomAD v2
17g.45996576C>TCA399978293MAPTc.647C>T (p.Thr216Ile)
c.560C>T (p.Thr187Ile)
c.734C>T (p.Thr245Ile)
n.598C>T
c.1910C>T (p.Thr637Ile)
c.1712C>T (p.Thr571Ile)
c.1685C>T (p.Thr562Ile)
c.1739C>T (p.Thr580Ile)
n.688C>T
n.6019C>T
c.1997C>T (p.Thr666Ile)
c.1823C>T (p.Thr608Ile)
c.1799C>T (p.Thr600Ile)
c.932C>T (p.Thr311Ile)
c.845C>T (p.Thr282Ile)
c.758C>T (p.Thr253Ile)
n.658C>T
17g.45996577A>CCA500644025MAPTc.648A>C (p.Thr216=)
c.561A>C (p.Thr187=)
c.735A>C (p.Thr245=)
n.599A>C
c.1911A>C (p.Thr637=)
c.1713A>C (p.Thr571=)
c.1686A>C (p.Thr562=)
c.1740A>C (p.Thr580=)
n.689A>C
n.6020A>C
c.1998A>C (p.Thr666=)
c.1824A>C (p.Thr608=)
c.1800A>C (p.Thr600=)
c.933A>C (p.Thr311=)
c.846A>C (p.Thr282=)
c.759A>C (p.Thr253=)
n.659A>C
17g.45996577A>GCA500644024MAPTc.648A>G (p.Thr216=)
c.561A>G (p.Thr187=)
c.735A>G (p.Thr245=)
n.599A>G
c.1911A>G (p.Thr637=)
c.1713A>G (p.Thr571=)
c.1686A>G (p.Thr562=)
c.1740A>G (p.Thr580=)
n.689A>G
n.6020A>G
c.1998A>G (p.Thr666=)
c.1824A>G (p.Thr608=)
c.1800A>G (p.Thr600=)
c.933A>G (p.Thr311=)
c.846A>G (p.Thr282=)
c.759A>G (p.Thr253=)
n.659A>G
17g.45996577A>TCA500644023MAPTc.648A>T (p.Thr216=)
c.561A>T (p.Thr187=)
c.735A>T (p.Thr245=)
n.599A>T
c.1911A>T (p.Thr637=)
c.1713A>T (p.Thr571=)
c.1686A>T (p.Thr562=)
c.1740A>T (p.Thr580=)
n.689A>T
n.6020A>T
c.1998A>T (p.Thr666=)
c.1824A>T (p.Thr608=)
c.1800A>T (p.Thr600=)
c.933A>T (p.Thr311=)
c.846A>T (p.Thr282=)
c.759A>T (p.Thr253=)
n.659A>T
17g.45996578G>ACA8618056MAPTc.649G>A (p.Ala217Thr)
c.562G>A (p.Ala188Thr)
c.736G>A (p.Ala246Thr)
n.600G>A
c.1912G>A (p.Ala638Thr)
c.1714G>A (p.Ala572Thr)
c.1687G>A (p.Ala563Thr)
c.1741G>A (p.Ala581Thr)
n.690G>A
n.6021G>A
c.1999G>A (p.Ala667Thr)
c.1825G>A (p.Ala609Thr)
c.1801G>A (p.Ala601Thr)
c.934G>A (p.Ala312Thr)
c.847G>A (p.Ala283Thr)
c.760G>A (p.Ala254Thr)
n.660G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996578G>CCA399978294MAPTc.649G>C (p.Ala217Pro)
c.562G>C (p.Ala188Pro)
c.736G>C (p.Ala246Pro)
n.600G>C
c.1912G>C (p.Ala638Pro)
c.1714G>C (p.Ala572Pro)
c.1687G>C (p.Ala563Pro)
c.1741G>C (p.Ala581Pro)
n.690G>C
n.6021G>C
c.1999G>C (p.Ala667Pro)
c.1825G>C (p.Ala609Pro)
c.1801G>C (p.Ala601Pro)
c.934G>C (p.Ala312Pro)
c.847G>C (p.Ala283Pro)
c.760G>C (p.Ala254Pro)
n.660G>C
17g.45996578G=CA2262095026MAPTc.649G= (p.Ala217=)
c.562G= (p.Ala188=)
c.736G= (p.Ala246=)
n.600G=
c.1912G= (p.Ala638=)
c.1714G= (p.Ala572=)
c.1687G= (p.Ala563=)
c.1741G= (p.Ala581=)
n.690G=
n.6021G=
c.1999G= (p.Ala667=)
c.1825G= (p.Ala609=)
c.1801G= (p.Ala601=)
c.934G= (p.Ala312=)
c.847G= (p.Ala283=)
c.760G= (p.Ala254=)
n.660G=
17g.45996578G>TCA399978295MAPTc.649G>T (p.Ala217Ser)
c.562G>T (p.Ala188Ser)
c.736G>T (p.Ala246Ser)
n.600G>T
c.1912G>T (p.Ala638Ser)
c.1714G>T (p.Ala572Ser)
c.1687G>T (p.Ala563Ser)
c.1741G>T (p.Ala581Ser)
n.690G>T
n.6021G>T
c.1999G>T (p.Ala667Ser)
c.1825G>T (p.Ala609Ser)
c.1801G>T (p.Ala601Ser)
c.934G>T (p.Ala312Ser)
c.847G>T (p.Ala283Ser)
c.760G>T (p.Ala254Ser)
n.660G>T
 gnomAD v4
17g.45996579C>ACA399978296MAPTc.650C>A (p.Ala217Asp)
c.563C>A (p.Ala188Asp)
c.737C>A (p.Ala246Asp)
n.601C>A
c.1913C>A (p.Ala638Asp)
c.1715C>A (p.Ala572Asp)
c.1688C>A (p.Ala563Asp)
c.1742C>A (p.Ala581Asp)
n.691C>A
n.6022C>A
c.2000C>A (p.Ala667Asp)
c.1826C>A (p.Ala609Asp)
c.1802C>A (p.Ala601Asp)
c.935C>A (p.Ala312Asp)
c.848C>A (p.Ala283Asp)
c.761C>A (p.Ala254Asp)
n.661C>A
 gnomAD v4
17g.45996579C>GCA399978297MAPTc.650C>G (p.Ala217Gly)
c.563C>G (p.Ala188Gly)
c.737C>G (p.Ala246Gly)
n.601C>G
c.1913C>G (p.Ala638Gly)
c.1715C>G (p.Ala572Gly)
c.1688C>G (p.Ala563Gly)
c.1742C>G (p.Ala581Gly)
n.691C>G
n.6022C>G
c.2000C>G (p.Ala667Gly)
c.1826C>G (p.Ala609Gly)
c.1802C>G (p.Ala601Gly)
c.935C>G (p.Ala312Gly)
c.848C>G (p.Ala283Gly)
c.761C>G (p.Ala254Gly)
n.661C>G
17g.45996579C>TCA399978298MAPTc.650C>T (p.Ala217Val)
c.563C>T (p.Ala188Val)
c.737C>T (p.Ala246Val)
n.601C>T
c.1913C>T (p.Ala638Val)
c.1715C>T (p.Ala572Val)
c.1688C>T (p.Ala563Val)
c.1742C>T (p.Ala581Val)
n.691C>T
n.6022C>T
c.2000C>T (p.Ala667Val)
c.1826C>T (p.Ala609Val)
c.1802C>T (p.Ala601Val)
c.935C>T (p.Ala312Val)
c.848C>T (p.Ala283Val)
c.761C>T (p.Ala254Val)
n.661C>T
 gnomAD v4
17g.45996583dupCA291107187MAPTc.654dup (p.Val219ArgfsTer17)
c.567dup (p.Val190ArgfsTer17)
c.741dup (p.Val248ArgfsTer17)
n.605dup
c.1917dup (p.Val640ArgfsTer17)
c.1719dup (p.Val574ArgfsTer17)
c.1692dup (p.Val565ArgfsTer17)
c.1746dup (p.Val583ArgfsTer17)
n.695dup
n.6026dup
c.2004dup (p.Val669ArgfsTer17)
c.1830dup (p.Val611ArgfsTer17)
c.1806dup (p.Val603ArgfsTer17)
c.939dup (p.Val314ArgfsTer17)
c.852dup (p.Val285ArgfsTer17)
c.765dup (p.Val256ArgfsTer17)
n.665dup
 dbSNP
17g.45996580C>ACA500644027MAPTc.651C>A (p.Ala217=)
c.564C>A (p.Ala188=)
c.738C>A (p.Ala246=)
n.602C>A
c.1914C>A (p.Ala638=)
c.1716C>A (p.Ala572=)
c.1689C>A (p.Ala563=)
c.1743C>A (p.Ala581=)
n.692C>A
n.6023C>A
c.2001C>A (p.Ala667=)
c.1827C>A (p.Ala609=)
c.1803C>A (p.Ala601=)
c.936C>A (p.Ala312=)
c.849C>A (p.Ala283=)
c.762C>A (p.Ala254=)
n.662C>A
17g.45996580C>GCA500644028MAPTc.651C>G (p.Ala217=)
c.564C>G (p.Ala188=)
c.738C>G (p.Ala246=)
n.602C>G
c.1914C>G (p.Ala638=)
c.1716C>G (p.Ala572=)
c.1689C>G (p.Ala563=)
c.1743C>G (p.Ala581=)
n.692C>G
n.6023C>G
c.2001C>G (p.Ala667=)
c.1827C>G (p.Ala609=)
c.1803C>G (p.Ala601=)
c.936C>G (p.Ala312=)
c.849C>G (p.Ala283=)
c.762C>G (p.Ala254=)
n.662C>G
17g.45996580C>TCA500644026MAPTc.651C>T (p.Ala217=)
c.564C>T (p.Ala188=)
c.738C>T (p.Ala246=)
n.602C>T
c.1914C>T (p.Ala638=)
c.1716C>T (p.Ala572=)
c.1689C>T (p.Ala563=)
c.1743C>T (p.Ala581=)
n.692C>T
n.6023C>T
c.2001C>T (p.Ala667=)
c.1827C>T (p.Ala609=)
c.1803C>T (p.Ala601=)
c.936C>T (p.Ala312=)
c.849C>T (p.Ala283=)
c.762C>T (p.Ala254=)
n.662C>T
17g.45996581C>ACA399978299MAPTc.652C>A (p.Pro218Thr)
c.565C>A (p.Pro189Thr)
c.739C>A (p.Pro247Thr)
n.603C>A
c.1915C>A (p.Pro639Thr)
c.1717C>A (p.Pro573Thr)
c.1690C>A (p.Pro564Thr)
c.1744C>A (p.Pro582Thr)
n.693C>A
n.6024C>A
c.2002C>A (p.Pro668Thr)
c.1828C>A (p.Pro610Thr)
c.1804C>A (p.Pro602Thr)
c.937C>A (p.Pro313Thr)
c.850C>A (p.Pro284Thr)
c.763C>A (p.Pro255Thr)
n.663C>A
17g.45996581C>GCA399978301MAPTc.652C>G (p.Pro218Ala)
c.565C>G (p.Pro189Ala)
c.739C>G (p.Pro247Ala)
n.603C>G
c.1915C>G (p.Pro639Ala)
c.1717C>G (p.Pro573Ala)
c.1690C>G (p.Pro564Ala)
c.1744C>G (p.Pro582Ala)
n.693C>G
n.6024C>G
c.2002C>G (p.Pro668Ala)
c.1828C>G (p.Pro610Ala)
c.1804C>G (p.Pro602Ala)
c.937C>G (p.Pro313Ala)
c.850C>G (p.Pro284Ala)
c.763C>G (p.Pro255Ala)
n.663C>G
17g.45996581C>TCA399978300MAPTc.652C>T (p.Pro218Ser)
c.565C>T (p.Pro189Ser)
c.739C>T (p.Pro247Ser)
n.603C>T
c.1915C>T (p.Pro639Ser)
c.1717C>T (p.Pro573Ser)
c.1690C>T (p.Pro564Ser)
c.1744C>T (p.Pro582Ser)
n.693C>T
n.6024C>T
c.2002C>T (p.Pro668Ser)
c.1828C>T (p.Pro610Ser)
c.1804C>T (p.Pro602Ser)
c.937C>T (p.Pro313Ser)
c.850C>T (p.Pro284Ser)
c.763C>T (p.Pro255Ser)
n.663C>T
 gnomAD v4
17g.45996582C>ACA399978302MAPTc.653C>A (p.Pro218His)
c.566C>A (p.Pro189His)
c.740C>A (p.Pro247His)
n.604C>A
c.1916C>A (p.Pro639His)
c.1718C>A (p.Pro573His)
c.1691C>A (p.Pro564His)
c.1745C>A (p.Pro582His)
n.694C>A
n.6025C>A
c.2003C>A (p.Pro668His)
c.1829C>A (p.Pro610His)
c.1805C>A (p.Pro602His)
c.938C>A (p.Pro313His)
c.851C>A (p.Pro284His)
c.764C>A (p.Pro255His)
n.664C>A
17g.45996582C>GCA399978303MAPTc.653C>G (p.Pro218Arg)
c.566C>G (p.Pro189Arg)
c.740C>G (p.Pro247Arg)
n.604C>G
c.1916C>G (p.Pro639Arg)
c.1718C>G (p.Pro573Arg)
c.1691C>G (p.Pro564Arg)
c.1745C>G (p.Pro582Arg)
n.694C>G
n.6025C>G
c.2003C>G (p.Pro668Arg)
c.1829C>G (p.Pro610Arg)
c.1805C>G (p.Pro602Arg)
c.938C>G (p.Pro313Arg)
c.851C>G (p.Pro284Arg)
c.764C>G (p.Pro255Arg)
n.664C>G
17g.45996582C>TCA399978304MAPTc.653C>T (p.Pro218Leu)
c.566C>T (p.Pro189Leu)
c.740C>T (p.Pro247Leu)
n.604C>T
c.1916C>T (p.Pro639Leu)
c.1718C>T (p.Pro573Leu)
c.1691C>T (p.Pro564Leu)
c.1745C>T (p.Pro582Leu)
n.694C>T
n.6025C>T
c.2003C>T (p.Pro668Leu)
c.1829C>T (p.Pro610Leu)
c.1805C>T (p.Pro602Leu)
c.938C>T (p.Pro313Leu)
c.851C>T (p.Pro284Leu)
c.764C>T (p.Pro255Leu)
n.664C>T
 gnomAD v4
17g.45996583C>ACA500644029MAPTc.654C>A (p.Pro218=)
c.567C>A (p.Pro189=)
c.741C>A (p.Pro247=)
n.605C>A
c.1917C>A (p.Pro639=)
c.1719C>A (p.Pro573=)
c.1692C>A (p.Pro564=)
c.1746C>A (p.Pro582=)
n.695C>A
n.6026C>A
c.2004C>A (p.Pro668=)
c.1830C>A (p.Pro610=)
c.1806C>A (p.Pro602=)
c.939C>A (p.Pro313=)
c.852C>A (p.Pro284=)
c.765C>A (p.Pro255=)
n.665C>A
17g.45996583C=CA2262095027MAPTc.654C= (p.Pro218=)
c.567C= (p.Pro189=)
c.741C= (p.Pro247=)
n.605C=
c.1917C= (p.Pro639=)
c.1719C= (p.Pro573=)
c.1692C= (p.Pro564=)
c.1746C= (p.Pro582=)
n.695C=
n.6026C=
c.2004C= (p.Pro668=)
c.1830C= (p.Pro610=)
c.1806C= (p.Pro602=)
c.939C= (p.Pro313=)
c.852C= (p.Pro284=)
c.765C= (p.Pro255=)
n.665C=
17g.45996583C>GCA500644030MAPTc.654C>G (p.Pro218=)
c.567C>G (p.Pro189=)
c.741C>G (p.Pro247=)
n.605C>G
c.1917C>G (p.Pro639=)
c.1719C>G (p.Pro573=)
c.1692C>G (p.Pro564=)
c.1746C>G (p.Pro582=)
n.695C>G
n.6026C>G
c.2004C>G (p.Pro668=)
c.1830C>G (p.Pro610=)
c.1806C>G (p.Pro602=)
c.939C>G (p.Pro313=)
c.852C>G (p.Pro284=)
c.765C>G (p.Pro255=)
n.665C>G
17g.45996583C>TCA291107188MAPTc.654C>T (p.Pro218=)
c.567C>T (p.Pro189=)
c.741C>T (p.Pro247=)
n.605C>T
c.1917C>T (p.Pro639=)
c.1719C>T (p.Pro573=)
c.1692C>T (p.Pro564=)
c.1746C>T (p.Pro582=)
n.695C>T
n.6026C>T
c.2004C>T (p.Pro668=)
c.1830C>T (p.Pro610=)
c.1806C>T (p.Pro602=)
c.939C>T (p.Pro313=)
c.852C>T (p.Pro284=)
c.765C>T (p.Pro255=)
n.665C>T
 dbSNP gnomAD v3 gnomAD v4
17g.45996584G>ACA8618057MAPTc.655G>A (p.Val219Met)
c.568G>A (p.Val190Met)
c.742G>A (p.Val248Met)
n.606G>A
c.1918G>A (p.Val640Met)
c.1720G>A (p.Val574Met)
c.1693G>A (p.Val565Met)
c.1747G>A (p.Val583Met)
n.696G>A
n.6027G>A
c.2005G>A (p.Val669Met)
c.1831G>A (p.Val611Met)
c.1807G>A (p.Val603Met)
c.940G>A (p.Val314Met)
c.853G>A (p.Val285Met)
c.766G>A (p.Val256Met)
n.666G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.45996584G>CCA8618058MAPTc.655G>C (p.Val219Leu)
c.568G>C (p.Val190Leu)
c.742G>C (p.Val248Leu)
n.606G>C
c.1918G>C (p.Val640Leu)
c.1720G>C (p.Val574Leu)
c.1693G>C (p.Val565Leu)
c.1747G>C (p.Val583Leu)
n.696G>C
n.6027G>C
c.2005G>C (p.Val669Leu)
c.1831G>C (p.Val611Leu)
c.1807G>C (p.Val603Leu)
c.940G>C (p.Val314Leu)
c.853G>C (p.Val285Leu)
c.766G>C (p.Val256Leu)
n.666G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996584G=CA2262095028MAPTc.655G= (p.Val219=)
c.568G= (p.Val190=)
c.742G= (p.Val248=)
n.606G=
c.1918G= (p.Val640=)
c.1720G= (p.Val574=)
c.1693G= (p.Val565=)
c.1747G= (p.Val583=)
n.696G=
n.6027G=
c.2005G= (p.Val669=)
c.1831G= (p.Val611=)
c.1807G= (p.Val603=)
c.940G= (p.Val314=)
c.853G= (p.Val285=)
c.766G= (p.Val256=)
n.666G=
17g.45996584G>TCA399978305MAPTc.655G>T (p.Val219Leu)
c.568G>T (p.Val190Leu)
c.742G>T (p.Val248Leu)
n.606G>T
c.1918G>T (p.Val640Leu)
c.1720G>T (p.Val574Leu)
c.1693G>T (p.Val565Leu)
c.1747G>T (p.Val583Leu)
n.696G>T
n.6027G>T
c.2005G>T (p.Val669Leu)
c.1831G>T (p.Val611Leu)
c.1807G>T (p.Val603Leu)
c.940G>T (p.Val314Leu)
c.853G>T (p.Val285Leu)
c.766G>T (p.Val256Leu)
n.666G>T
 gnomAD v4
17g.45996585T>ACA399978306MAPTc.656T>A (p.Val219Glu)
c.569T>A (p.Val190Glu)
c.743T>A (p.Val248Glu)
n.607T>A
c.1919T>A (p.Val640Glu)
c.1721T>A (p.Val574Glu)
c.1694T>A (p.Val565Glu)
c.1748T>A (p.Val583Glu)
n.697T>A
n.6028T>A
c.2006T>A (p.Val669Glu)
c.1832T>A (p.Val611Glu)
c.1808T>A (p.Val603Glu)
c.941T>A (p.Val314Glu)
c.854T>A (p.Val285Glu)
c.767T>A (p.Val256Glu)
n.667T>A
17g.45996585T>CCA399978307MAPTc.656T>C (p.Val219Ala)
c.569T>C (p.Val190Ala)
c.743T>C (p.Val248Ala)
n.607T>C
c.1919T>C (p.Val640Ala)
c.1721T>C (p.Val574Ala)
c.1694T>C (p.Val565Ala)
c.1748T>C (p.Val583Ala)
n.697T>C
n.6028T>C
c.2006T>C (p.Val669Ala)
c.1832T>C (p.Val611Ala)
c.1808T>C (p.Val603Ala)
c.941T>C (p.Val314Ala)
c.854T>C (p.Val285Ala)
c.767T>C (p.Val256Ala)
n.667T>C
17g.45996585T>GCA399978308MAPTc.656T>G (p.Val219Gly)
c.569T>G (p.Val190Gly)
c.743T>G (p.Val248Gly)
n.607T>G
c.1919T>G (p.Val640Gly)
c.1721T>G (p.Val574Gly)
c.1694T>G (p.Val565Gly)
c.1748T>G (p.Val583Gly)
n.697T>G
n.6028T>G
c.2006T>G (p.Val669Gly)
c.1832T>G (p.Val611Gly)
c.1808T>G (p.Val603Gly)
c.941T>G (p.Val314Gly)
c.854T>G (p.Val285Gly)
c.767T>G (p.Val256Gly)
n.667T>G
17g.45996586G>ACA500644032MAPTc.657G>A (p.Val219=)
c.570G>A (p.Val190=)
c.744G>A (p.Val248=)
n.608G>A
c.1920G>A (p.Val640=)
c.1722G>A (p.Val574=)
c.1695G>A (p.Val565=)
c.1749G>A (p.Val583=)
n.698G>A
n.6029G>A
c.2007G>A (p.Val669=)
c.1833G>A (p.Val611=)
c.1809G>A (p.Val603=)
c.942G>A (p.Val314=)
c.855G>A (p.Val285=)
c.768G>A (p.Val256=)
n.668G>A
17g.45996586G>CCA500644031MAPTc.657G>C (p.Val219=)
c.570G>C (p.Val190=)
c.744G>C (p.Val248=)
n.608G>C
c.1920G>C (p.Val640=)
c.1722G>C (p.Val574=)
c.1695G>C (p.Val565=)
c.1749G>C (p.Val583=)
n.698G>C
n.6029G>C
c.2007G>C (p.Val669=)
c.1833G>C (p.Val611=)
c.1809G>C (p.Val603=)
c.942G>C (p.Val314=)
c.855G>C (p.Val285=)
c.768G>C (p.Val256=)
n.668G>C
17g.45996586G>TCA500644033MAPTc.657G>T (p.Val219=)
c.570G>T (p.Val190=)
c.744G>T (p.Val248=)
n.608G>T
c.1920G>T (p.Val640=)
c.1722G>T (p.Val574=)
c.1695G>T (p.Val565=)
c.1749G>T (p.Val583=)
n.698G>T
n.6029G>T
c.2007G>T (p.Val669=)
c.1833G>T (p.Val611=)
c.1809G>T (p.Val603=)
c.942G>T (p.Val314=)
c.855G>T (p.Val285=)
c.768G>T (p.Val256=)
n.668G>T
17g.45996587C>ACA399978311MAPTc.658C>A (p.Pro220Thr)
c.571C>A (p.Pro191Thr)
c.745C>A (p.Pro249Thr)
n.609C>A
c.1921C>A (p.Pro641Thr)
c.1723C>A (p.Pro575Thr)
c.1696C>A (p.Pro566Thr)
c.1750C>A (p.Pro584Thr)
n.699C>A
n.6030C>A
c.2008C>A (p.Pro670Thr)
c.1834C>A (p.Pro612Thr)
c.1810C>A (p.Pro604Thr)
c.943C>A (p.Pro315Thr)
c.856C>A (p.Pro286Thr)
c.769C>A (p.Pro257Thr)
n.669C>A
17g.45996587C>GCA399978310MAPTc.658C>G (p.Pro220Ala)
c.571C>G (p.Pro191Ala)
c.745C>G (p.Pro249Ala)
n.609C>G
c.1921C>G (p.Pro641Ala)
c.1723C>G (p.Pro575Ala)
c.1696C>G (p.Pro566Ala)
c.1750C>G (p.Pro584Ala)
n.699C>G
n.6030C>G
c.2008C>G (p.Pro670Ala)
c.1834C>G (p.Pro612Ala)
c.1810C>G (p.Pro604Ala)
c.943C>G (p.Pro315Ala)
c.856C>G (p.Pro286Ala)
c.769C>G (p.Pro257Ala)
n.669C>G
17g.45996587C>TCA399978309MAPTc.658C>T (p.Pro220Ser)
c.571C>T (p.Pro191Ser)
c.745C>T (p.Pro249Ser)
n.609C>T
c.1921C>T (p.Pro641Ser)
c.1723C>T (p.Pro575Ser)
c.1696C>T (p.Pro566Ser)
c.1750C>T (p.Pro584Ser)
n.699C>T
n.6030C>T
c.2008C>T (p.Pro670Ser)
c.1834C>T (p.Pro612Ser)
c.1810C>T (p.Pro604Ser)
c.943C>T (p.Pro315Ser)
c.856C>T (p.Pro286Ser)
c.769C>T (p.Pro257Ser)
n.669C>T
17g.45996588C>ACA399978312MAPTc.659C>A (p.Pro220His)
c.572C>A (p.Pro191His)
c.746C>A (p.Pro249His)
n.610C>A
c.1922C>A (p.Pro641His)
c.1724C>A (p.Pro575His)
c.1697C>A (p.Pro566His)
c.1751C>A (p.Pro584His)
n.700C>A
n.6031C>A
c.2009C>A (p.Pro670His)
c.1835C>A (p.Pro612His)
c.1811C>A (p.Pro604His)
c.944C>A (p.Pro315His)
c.857C>A (p.Pro286His)
c.770C>A (p.Pro257His)
n.670C>A
17g.45996588C>GCA399978314MAPTc.659C>G (p.Pro220Arg)
c.572C>G (p.Pro191Arg)
c.746C>G (p.Pro249Arg)
n.610C>G
c.1922C>G (p.Pro641Arg)
c.1724C>G (p.Pro575Arg)
c.1697C>G (p.Pro566Arg)
c.1751C>G (p.Pro584Arg)
n.700C>G
n.6031C>G
c.2009C>G (p.Pro670Arg)
c.1835C>G (p.Pro612Arg)
c.1811C>G (p.Pro604Arg)
c.944C>G (p.Pro315Arg)
c.857C>G (p.Pro286Arg)
c.770C>G (p.Pro257Arg)
n.670C>G
17g.45996588C>TCA399978313MAPTc.659C>T (p.Pro220Leu)
c.572C>T (p.Pro191Leu)
c.746C>T (p.Pro249Leu)
n.610C>T
c.1922C>T (p.Pro641Leu)
c.1724C>T (p.Pro575Leu)
c.1697C>T (p.Pro566Leu)
c.1751C>T (p.Pro584Leu)
n.700C>T
n.6031C>T
c.2009C>T (p.Pro670Leu)
c.1835C>T (p.Pro612Leu)
c.1811C>T (p.Pro604Leu)
c.944C>T (p.Pro315Leu)
c.857C>T (p.Pro286Leu)
c.770C>T (p.Pro257Leu)
n.670C>T
17g.45996589C>ACA500644034MAPTc.660C>A (p.Pro220=)
c.573C>A (p.Pro191=)
c.747C>A (p.Pro249=)
n.611C>A
c.1923C>A (p.Pro641=)
c.1725C>A (p.Pro575=)
c.1698C>A (p.Pro566=)
c.1752C>A (p.Pro584=)
n.701C>A
n.6032C>A
c.2010C>A (p.Pro670=)
c.1836C>A (p.Pro612=)
c.1812C>A (p.Pro604=)
c.945C>A (p.Pro315=)
c.858C>A (p.Pro286=)
c.771C>A (p.Pro257=)
n.671C>A
17g.45996589C>GCA500644036MAPTc.660C>G (p.Pro220=)
c.573C>G (p.Pro191=)
c.747C>G (p.Pro249=)
n.611C>G
c.1923C>G (p.Pro641=)
c.1725C>G (p.Pro575=)
c.1698C>G (p.Pro566=)
c.1752C>G (p.Pro584=)
n.701C>G
n.6032C>G
c.2010C>G (p.Pro670=)
c.1836C>G (p.Pro612=)
c.1812C>G (p.Pro604=)
c.945C>G (p.Pro315=)
c.858C>G (p.Pro286=)
c.771C>G (p.Pro257=)
n.671C>G
17g.45996589C>TCA500644035MAPTc.660C>T (p.Pro220=)
c.573C>T (p.Pro191=)
c.747C>T (p.Pro249=)
n.611C>T
c.1923C>T (p.Pro641=)
c.1725C>T (p.Pro575=)
c.1698C>T (p.Pro566=)
c.1752C>T (p.Pro584=)
n.701C>T
n.6032C>T
c.2010C>T (p.Pro670=)
c.1836C>T (p.Pro612=)
c.1812C>T (p.Pro604=)
c.945C>T (p.Pro315=)
c.858C>T (p.Pro286=)
c.771C>T (p.Pro257=)
n.671C>T
 COSMIC COSMIC
17g.45996590A>CCA399978315MAPTc.661A>C (p.Met221Leu)
c.574A>C (p.Met192Leu)
c.748A>C (p.Met250Leu)
n.612A>C
c.1924A>C (p.Met642Leu)
c.1726A>C (p.Met576Leu)
c.1699A>C (p.Met567Leu)
c.1753A>C (p.Met585Leu)
n.702A>C
n.6033A>C
c.2011A>C (p.Met671Leu)
c.1837A>C (p.Met613Leu)
c.1813A>C (p.Met605Leu)
c.946A>C (p.Met316Leu)
c.859A>C (p.Met287Leu)
c.772A>C (p.Met258Leu)
n.672A>C
17g.45996590A>GCA399978316MAPTc.661A>G (p.Met221Val)
c.574A>G (p.Met192Val)
c.748A>G (p.Met250Val)
n.612A>G
c.1924A>G (p.Met642Val)
c.1726A>G (p.Met576Val)
c.1699A>G (p.Met567Val)
c.1753A>G (p.Met585Val)
n.702A>G
n.6033A>G
c.2011A>G (p.Met671Val)
c.1837A>G (p.Met613Val)
c.1813A>G (p.Met605Val)
c.946A>G (p.Met316Val)
c.859A>G (p.Met287Val)
c.772A>G (p.Met258Val)
n.672A>G
 gnomAD v4
17g.45996590A>TCA399978317MAPTc.661A>T (p.Met221Leu)
c.574A>T (p.Met192Leu)
c.748A>T (p.Met250Leu)
n.612A>T
c.1924A>T (p.Met642Leu)
c.1726A>T (p.Met576Leu)
c.1699A>T (p.Met567Leu)
c.1753A>T (p.Met585Leu)
n.702A>T
n.6033A>T
c.2011A>T (p.Met671Leu)
c.1837A>T (p.Met613Leu)
c.1813A>T (p.Met605Leu)
c.946A>T (p.Met316Leu)
c.859A>T (p.Met287Leu)
c.772A>T (p.Met258Leu)
n.672A>T
17g.45996591T>ACA399978318MAPTc.662T>A (p.Met221Lys)
c.575T>A (p.Met192Lys)
c.749T>A (p.Met250Lys)
n.613T>A
c.1925T>A (p.Met642Lys)
c.1727T>A (p.Met576Lys)
c.1700T>A (p.Met567Lys)
c.1754T>A (p.Met585Lys)
n.703T>A
n.6034T>A
c.2012T>A (p.Met671Lys)
c.1838T>A (p.Met613Lys)
c.1814T>A (p.Met605Lys)
c.947T>A (p.Met316Lys)
c.860T>A (p.Met287Lys)
c.773T>A (p.Met258Lys)
n.673T>A
17g.45996591T>CCA399978319MAPTc.662T>C (p.Met221Thr)
c.575T>C (p.Met192Thr)
c.749T>C (p.Met250Thr)
n.613T>C
c.1925T>C (p.Met642Thr)
c.1727T>C (p.Met576Thr)
c.1700T>C (p.Met567Thr)
c.1754T>C (p.Met585Thr)
n.703T>C
n.6034T>C
c.2012T>C (p.Met671Thr)
c.1838T>C (p.Met613Thr)
c.1814T>C (p.Met605Thr)
c.947T>C (p.Met316Thr)
c.860T>C (p.Met287Thr)
c.773T>C (p.Met258Thr)
n.673T>C
17g.45996591T>GCA399978320MAPTc.662T>G (p.Met221Arg)
c.575T>G (p.Met192Arg)
c.749T>G (p.Met250Arg)
n.613T>G
c.1925T>G (p.Met642Arg)
c.1727T>G (p.Met576Arg)
c.1700T>G (p.Met567Arg)
c.1754T>G (p.Met585Arg)
n.703T>G
n.6034T>G
c.2012T>G (p.Met671Arg)
c.1838T>G (p.Met613Arg)
c.1814T>G (p.Met605Arg)
c.947T>G (p.Met316Arg)
c.860T>G (p.Met287Arg)
c.773T>G (p.Met258Arg)
n.673T>G
17g.45996592G>ACA399978321MAPTc.663G>A (p.Met221Ile)
c.576G>A (p.Met192Ile)
c.750G>A (p.Met250Ile)
n.614G>A
c.1926G>A (p.Met642Ile)
c.1728G>A (p.Met576Ile)
c.1701G>A (p.Met567Ile)
c.1755G>A (p.Met585Ile)
n.704G>A
n.6035G>A
c.2013G>A (p.Met671Ile)
c.1839G>A (p.Met613Ile)
c.1815G>A (p.Met605Ile)
c.948G>A (p.Met316Ile)
c.861G>A (p.Met287Ile)
c.774G>A (p.Met258Ile)
n.674G>A
17g.45996592G>CCA399978322MAPTc.663G>C (p.Met221Ile)
c.576G>C (p.Met192Ile)
c.750G>C (p.Met250Ile)
n.614G>C
c.1926G>C (p.Met642Ile)
c.1728G>C (p.Met576Ile)
c.1701G>C (p.Met567Ile)
c.1755G>C (p.Met585Ile)
n.704G>C
n.6035G>C
c.2013G>C (p.Met671Ile)
c.1839G>C (p.Met613Ile)
c.1815G>C (p.Met605Ile)
c.948G>C (p.Met316Ile)
c.861G>C (p.Met287Ile)
c.774G>C (p.Met258Ile)
n.674G>C
17g.45996592G>TCA399978323MAPTc.663G>T (p.Met221Ile)
c.576G>T (p.Met192Ile)
c.750G>T (p.Met250Ile)
n.614G>T
c.1926G>T (p.Met642Ile)
c.1728G>T (p.Met576Ile)
c.1701G>T (p.Met567Ile)
c.1755G>T (p.Met585Ile)
n.704G>T
n.6035G>T
c.2013G>T (p.Met671Ile)
c.1839G>T (p.Met613Ile)
c.1815G>T (p.Met605Ile)
c.948G>T (p.Met316Ile)
c.861G>T (p.Met287Ile)
c.774G>T (p.Met258Ile)
n.674G>T
17g.45996593C>ACA399978324MAPTc.664C>A (p.Pro222Thr)
c.577C>A (p.Pro193Thr)
c.751C>A (p.Pro251Thr)
n.615C>A
c.1927C>A (p.Pro643Thr)
c.1729C>A (p.Pro577Thr)
c.1702C>A (p.Pro568Thr)
c.1756C>A (p.Pro586Thr)
n.705C>A
n.6036C>A
c.2014C>A (p.Pro672Thr)
c.1840C>A (p.Pro614Thr)
c.1816C>A (p.Pro606Thr)
c.949C>A (p.Pro317Thr)
c.862C>A (p.Pro288Thr)
c.775C>A (p.Pro259Thr)
n.675C>A
17g.45996593C=CA2262095029MAPTc.664C= (p.Pro222=)
c.577C= (p.Pro193=)
c.751C= (p.Pro251=)
n.615C=
c.1927C= (p.Pro643=)
c.1729C= (p.Pro577=)
c.1702C= (p.Pro568=)
c.1756C= (p.Pro586=)
n.705C=
n.6036C=
c.2014C= (p.Pro672=)
c.1840C= (p.Pro614=)
c.1816C= (p.Pro606=)
c.949C= (p.Pro317=)
c.862C= (p.Pro288=)
c.775C= (p.Pro259=)
n.675C=
17g.45996593C>GCA8618059MAPTc.664C>G (p.Pro222Ala)
c.577C>G (p.Pro193Ala)
c.751C>G (p.Pro251Ala)
n.615C>G
c.1927C>G (p.Pro643Ala)
c.1729C>G (p.Pro577Ala)
c.1702C>G (p.Pro568Ala)
c.1756C>G (p.Pro586Ala)
n.705C>G
n.6036C>G
c.2014C>G (p.Pro672Ala)
c.1840C>G (p.Pro614Ala)
c.1816C>G (p.Pro606Ala)
c.949C>G (p.Pro317Ala)
c.862C>G (p.Pro288Ala)
c.775C>G (p.Pro259Ala)
n.675C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996593C>TCA399978325MAPTc.664C>T (p.Pro222Ser)
c.577C>T (p.Pro193Ser)
c.751C>T (p.Pro251Ser)
n.615C>T
c.1927C>T (p.Pro643Ser)
c.1729C>T (p.Pro577Ser)
c.1702C>T (p.Pro568Ser)
c.1756C>T (p.Pro586Ser)
n.705C>T
n.6036C>T
c.2014C>T (p.Pro672Ser)
c.1840C>T (p.Pro614Ser)
c.1816C>T (p.Pro606Ser)
c.949C>T (p.Pro317Ser)
c.862C>T (p.Pro288Ser)
c.775C>T (p.Pro259Ser)
n.675C>T
 gnomAD v4
17g.45996594C>ACA399978328MAPTc.665C>A (p.Pro222Gln)
c.578C>A (p.Pro193Gln)
c.752C>A (p.Pro251Gln)
n.616C>A
c.1928C>A (p.Pro643Gln)
c.1730C>A (p.Pro577Gln)
c.1703C>A (p.Pro568Gln)
c.1757C>A (p.Pro586Gln)
n.706C>A
n.6037C>A
c.2015C>A (p.Pro672Gln)
c.1841C>A (p.Pro614Gln)
c.1817C>A (p.Pro606Gln)
c.950C>A (p.Pro317Gln)
c.863C>A (p.Pro288Gln)
c.776C>A (p.Pro259Gln)
n.676C>A
17g.45996594C>GCA399978326MAPTc.665C>G (p.Pro222Arg)
c.578C>G (p.Pro193Arg)
c.752C>G (p.Pro251Arg)
n.616C>G
c.1928C>G (p.Pro643Arg)
c.1730C>G (p.Pro577Arg)
c.1703C>G (p.Pro568Arg)
c.1757C>G (p.Pro586Arg)
n.706C>G
n.6037C>G
c.2015C>G (p.Pro672Arg)
c.1841C>G (p.Pro614Arg)
c.1817C>G (p.Pro606Arg)
c.950C>G (p.Pro317Arg)
c.863C>G (p.Pro288Arg)
c.776C>G (p.Pro259Arg)
n.676C>G
17g.45996594C>TCA399978327MAPTc.665C>T (p.Pro222Leu)
c.578C>T (p.Pro193Leu)
c.752C>T (p.Pro251Leu)
n.616C>T
c.1928C>T (p.Pro643Leu)
c.1730C>T (p.Pro577Leu)
c.1703C>T (p.Pro568Leu)
c.1757C>T (p.Pro586Leu)
n.706C>T
n.6037C>T
c.2015C>T (p.Pro672Leu)
c.1841C>T (p.Pro614Leu)
c.1817C>T (p.Pro606Leu)
c.950C>T (p.Pro317Leu)
c.863C>T (p.Pro288Leu)
c.776C>T (p.Pro259Leu)
n.676C>T
17g.45996595A>CCA500644037MAPTc.666A>C (p.Pro222=)
c.579A>C (p.Pro193=)
c.753A>C (p.Pro251=)
n.617A>C
c.1929A>C (p.Pro643=)
c.1731A>C (p.Pro577=)
c.1704A>C (p.Pro568=)
c.1758A>C (p.Pro586=)
n.707A>C
n.6038A>C
c.2016A>C (p.Pro672=)
c.1842A>C (p.Pro614=)
c.1818A>C (p.Pro606=)
c.951A>C (p.Pro317=)
c.864A>C (p.Pro288=)
c.777A>C (p.Pro259=)
n.677A>C
17g.45996595A>GCA500644038MAPTc.666A>G (p.Pro222=)
c.579A>G (p.Pro193=)
c.753A>G (p.Pro251=)
n.617A>G
c.1929A>G (p.Pro643=)
c.1731A>G (p.Pro577=)
c.1704A>G (p.Pro568=)
c.1758A>G (p.Pro586=)
n.707A>G
n.6038A>G
c.2016A>G (p.Pro672=)
c.1842A>G (p.Pro614=)
c.1818A>G (p.Pro606=)
c.951A>G (p.Pro317=)
c.864A>G (p.Pro288=)
c.777A>G (p.Pro259=)
n.677A>G
17g.45996595A>TCA500644039MAPTc.666A>T (p.Pro222=)
c.579A>T (p.Pro193=)
c.753A>T (p.Pro251=)
n.617A>T
c.1929A>T (p.Pro643=)
c.1731A>T (p.Pro577=)
c.1704A>T (p.Pro568=)
c.1758A>T (p.Pro586=)
n.707A>T
n.6038A>T
c.2016A>T (p.Pro672=)
c.1842A>T (p.Pro614=)
c.1818A>T (p.Pro606=)
c.951A>T (p.Pro317=)
c.864A>T (p.Pro288=)
c.777A>T (p.Pro259=)
n.677A>T
17g.45996596G>ACA399978329MAPTc.667G>A (p.Asp223Asn)
c.580G>A (p.Asp194Asn)
c.754G>A (p.Asp252Asn)
n.618G>A
c.1930G>A (p.Asp644Asn)
c.1732G>A (p.Asp578Asn)
c.1705G>A (p.Asp569Asn)
c.1759G>A (p.Asp587Asn)
n.708G>A
n.6039G>A
c.2017G>A (p.Asp673Asn)
c.1843G>A (p.Asp615Asn)
c.1819G>A (p.Asp607Asn)
c.952G>A (p.Asp318Asn)
c.865G>A (p.Asp289Asn)
c.778G>A (p.Asp260Asn)
n.678G>A
 gnomAD v4
17g.45996596G>CCA399978330MAPTc.667G>C (p.Asp223His)
c.580G>C (p.Asp194His)
c.754G>C (p.Asp252His)
n.618G>C
c.1930G>C (p.Asp644His)
c.1732G>C (p.Asp578His)
c.1705G>C (p.Asp569His)
c.1759G>C (p.Asp587His)
n.708G>C
n.6039G>C
c.2017G>C (p.Asp673His)
c.1843G>C (p.Asp615His)
c.1819G>C (p.Asp607His)
c.952G>C (p.Asp318His)
c.865G>C (p.Asp289His)
c.778G>C (p.Asp260His)
n.678G>C
17g.45996596G>TCA399978331MAPTc.667G>T (p.Asp223Tyr)
c.580G>T (p.Asp194Tyr)
c.754G>T (p.Asp252Tyr)
n.618G>T
c.1930G>T (p.Asp644Tyr)
c.1732G>T (p.Asp578Tyr)
c.1705G>T (p.Asp569Tyr)
c.1759G>T (p.Asp587Tyr)
n.708G>T
n.6039G>T
c.2017G>T (p.Asp673Tyr)
c.1843G>T (p.Asp615Tyr)
c.1819G>T (p.Asp607Tyr)
c.952G>T (p.Asp318Tyr)
c.865G>T (p.Asp289Tyr)
c.778G>T (p.Asp260Tyr)
n.678G>T
17g.45996597A=CA2262095030MAPTc.668A= (p.Asp223=)
c.581A= (p.Asp194=)
c.755A= (p.Asp252=)
n.619A=
c.1931A= (p.Asp644=)
c.1733A= (p.Asp578=)
c.1706A= (p.Asp569=)
c.1760A= (p.Asp587=)
n.709A=
n.6040A=
c.2018A= (p.Asp673=)
c.1844A= (p.Asp615=)
c.1820A= (p.Asp607=)
c.953A= (p.Asp318=)
c.866A= (p.Asp289=)
c.779A= (p.Asp260=)
n.679A=
17g.45996597A>CCA399978332MAPTc.668A>C (p.Asp223Ala)
c.581A>C (p.Asp194Ala)
c.755A>C (p.Asp252Ala)
n.619A>C
c.1931A>C (p.Asp644Ala)
c.1733A>C (p.Asp578Ala)
c.1706A>C (p.Asp569Ala)
c.1760A>C (p.Asp587Ala)
n.709A>C
n.6040A>C
c.2018A>C (p.Asp673Ala)
c.1844A>C (p.Asp615Ala)
c.1820A>C (p.Asp607Ala)
c.953A>C (p.Asp318Ala)
c.866A>C (p.Asp289Ala)
c.779A>C (p.Asp260Ala)
n.679A>C
17g.45996597A>GCA399978333MAPTc.668A>G (p.Asp223Gly)
c.581A>G (p.Asp194Gly)
c.755A>G (p.Asp252Gly)
n.619A>G
c.1931A>G (p.Asp644Gly)
c.1733A>G (p.Asp578Gly)
c.1706A>G (p.Asp569Gly)
c.1760A>G (p.Asp587Gly)
n.709A>G
n.6040A>G
c.2018A>G (p.Asp673Gly)
c.1844A>G (p.Asp615Gly)
c.1820A>G (p.Asp607Gly)
c.953A>G (p.Asp318Gly)
c.866A>G (p.Asp289Gly)
c.779A>G (p.Asp260Gly)
n.679A>G
 gnomAD v4
17g.45996597A>TCA399978334MAPTc.668A>T (p.Asp223Val)
c.581A>T (p.Asp194Val)
c.755A>T (p.Asp252Val)
n.619A>T
c.1931A>T (p.Asp644Val)
c.1733A>T (p.Asp578Val)
c.1706A>T (p.Asp569Val)
c.1760A>T (p.Asp587Val)
n.709A>T
n.6040A>T
c.2018A>T (p.Asp673Val)
c.1844A>T (p.Asp615Val)
c.1820A>T (p.Asp607Val)
c.953A>T (p.Asp318Val)
c.866A>T (p.Asp289Val)
c.779A>T (p.Asp260Val)
n.679A>T
 gnomAD v4
17g.45996598C>ACA399978335MAPTc.669C>A (p.Asp223Glu)
c.582C>A (p.Asp194Glu)
c.756C>A (p.Asp252Glu)
n.620C>A
c.1932C>A (p.Asp644Glu)
c.1734C>A (p.Asp578Glu)
c.1707C>A (p.Asp569Glu)
c.1761C>A (p.Asp587Glu)
n.710C>A
n.6041C>A
c.2019C>A (p.Asp673Glu)
c.1845C>A (p.Asp615Glu)
c.1821C>A (p.Asp607Glu)
c.954C>A (p.Asp318Glu)
c.867C>A (p.Asp289Glu)
c.780C>A (p.Asp260Glu)
n.680C>A
17g.45996598C>GCA399978336MAPTc.669C>G (p.Asp223Glu)
c.582C>G (p.Asp194Glu)
c.756C>G (p.Asp252Glu)
n.620C>G
c.1932C>G (p.Asp644Glu)
c.1734C>G (p.Asp578Glu)
c.1707C>G (p.Asp569Glu)
c.1761C>G (p.Asp587Glu)
n.710C>G
n.6041C>G
c.2019C>G (p.Asp673Glu)
c.1845C>G (p.Asp615Glu)
c.1821C>G (p.Asp607Glu)
c.954C>G (p.Asp318Glu)
c.867C>G (p.Asp289Glu)
c.780C>G (p.Asp260Glu)
n.680C>G
17g.45996598C>TCA500644040MAPTc.669C>T (p.Asp223=)
c.582C>T (p.Asp194=)
c.756C>T (p.Asp252=)
n.620C>T
c.1932C>T (p.Asp644=)
c.1734C>T (p.Asp578=)
c.1707C>T (p.Asp569=)
c.1761C>T (p.Asp587=)
n.710C>T
n.6041C>T
c.2019C>T (p.Asp673=)
c.1845C>T (p.Asp615=)
c.1821C>T (p.Asp607=)
c.954C>T (p.Asp318=)
c.867C>T (p.Asp289=)
c.780C>T (p.Asp260=)
n.680C>T
17g.45996598_45996599dupCA626683705MAPTc.669_670dup (p.Leu224ProfsTer2)
c.582_583dup (p.Leu195ProfsTer2)
c.756_757dup (p.Leu253ProfsTer2)
n.620_621dup
c.1932_1933dup (p.Leu645ProfsTer2)
c.1734_1735dup (p.Leu579ProfsTer2)
c.1707_1708dup (p.Leu570ProfsTer2)
c.1761_1762dup (p.Leu588ProfsTer2)
n.710_711dup
n.6041_6042dup
c.2019_2020dup (p.Leu674ProfsTer2)
c.1845_1846dup (p.Leu616ProfsTer2)
c.1821_1822dup (p.Leu608ProfsTer2)
c.954_955dup (p.Leu319ProfsTer2)
c.867_868dup (p.Leu290ProfsTer2)
c.780_781dup (p.Leu261ProfsTer2)
n.680_681dup
 dbSNP gnomAD v2 gnomAD v4
17g.45996599C>ACA399978337MAPTc.670C>A (p.Leu224Met)
c.583C>A (p.Leu195Met)
c.757C>A (p.Leu253Met)
n.621C>A
c.1933C>A (p.Leu645Met)
c.1735C>A (p.Leu579Met)
c.1708C>A (p.Leu570Met)
c.1762C>A (p.Leu588Met)
n.711C>A
n.6042C>A
c.2020C>A (p.Leu674Met)
c.1846C>A (p.Leu616Met)
c.1822C>A (p.Leu608Met)
c.955C>A (p.Leu319Met)
c.868C>A (p.Leu290Met)
c.781C>A (p.Leu261Met)
n.681C>A
17g.45996599C>GCA399978338MAPTc.670C>G (p.Leu224Val)
c.583C>G (p.Leu195Val)
c.757C>G (p.Leu253Val)
n.621C>G
c.1933C>G (p.Leu645Val)
c.1735C>G (p.Leu579Val)
c.1708C>G (p.Leu570Val)
c.1762C>G (p.Leu588Val)
n.711C>G
n.6042C>G
c.2020C>G (p.Leu674Val)
c.1846C>G (p.Leu616Val)
c.1822C>G (p.Leu608Val)
c.955C>G (p.Leu319Val)
c.868C>G (p.Leu290Val)
c.781C>G (p.Leu261Val)
n.681C>G
 gnomAD v4
17g.45996599C>TCA500644041MAPTc.670C>T (p.Leu224=)
c.583C>T (p.Leu195=)
c.757C>T (p.Leu253=)
n.621C>T
c.1933C>T (p.Leu645=)
c.1735C>T (p.Leu579=)
c.1708C>T (p.Leu570=)
c.1762C>T (p.Leu588=)
n.711C>T
n.6042C>T
c.2020C>T (p.Leu674=)
c.1846C>T (p.Leu616=)
c.1822C>T (p.Leu608=)
c.955C>T (p.Leu319=)
c.868C>T (p.Leu290=)
c.781C>T (p.Leu261=)
n.681C>T
 gnomAD v4
17g.45996600T>ACA399978341MAPTc.671T>A (p.Leu224Gln)
c.584T>A (p.Leu195Gln)
c.758T>A (p.Leu253Gln)
n.622T>A
c.1934T>A (p.Leu645Gln)
c.1736T>A (p.Leu579Gln)
c.1709T>A (p.Leu570Gln)
c.1763T>A (p.Leu588Gln)
n.712T>A
n.6043T>A
c.2021T>A (p.Leu674Gln)
c.1847T>A (p.Leu616Gln)
c.1823T>A (p.Leu608Gln)
c.956T>A (p.Leu319Gln)
c.869T>A (p.Leu290Gln)
c.782T>A (p.Leu261Gln)
n.682T>A
17g.45996600T>CCA399978340MAPTc.671T>C (p.Leu224Pro)
c.584T>C (p.Leu195Pro)
c.758T>C (p.Leu253Pro)
n.622T>C
c.1934T>C (p.Leu645Pro)
c.1736T>C (p.Leu579Pro)
c.1709T>C (p.Leu570Pro)
c.1763T>C (p.Leu588Pro)
n.712T>C
n.6043T>C
c.2021T>C (p.Leu674Pro)
c.1847T>C (p.Leu616Pro)
c.1823T>C (p.Leu608Pro)
c.956T>C (p.Leu319Pro)
c.869T>C (p.Leu290Pro)
c.782T>C (p.Leu261Pro)
n.682T>C
17g.45996600T>GCA399978339MAPTc.671T>G (p.Leu224Arg)
c.584T>G (p.Leu195Arg)
c.758T>G (p.Leu253Arg)
n.622T>G
c.1934T>G (p.Leu645Arg)
c.1736T>G (p.Leu579Arg)
c.1709T>G (p.Leu570Arg)
c.1763T>G (p.Leu588Arg)
n.712T>G
n.6043T>G
c.2021T>G (p.Leu674Arg)
c.1847T>G (p.Leu616Arg)
c.1823T>G (p.Leu608Arg)
c.956T>G (p.Leu319Arg)
c.869T>G (p.Leu290Arg)
c.782T>G (p.Leu261Arg)
n.682T>G
17g.45996601G>ACA500644042MAPTc.672G>A (p.Leu224=)
c.585G>A (p.Leu195=)
c.759G>A (p.Leu253=)
n.623G>A
c.1935G>A (p.Leu645=)
c.1737G>A (p.Leu579=)
c.1710G>A (p.Leu570=)
c.1764G>A (p.Leu588=)
n.713G>A
n.6044G>A
c.2022G>A (p.Leu674=)
c.1848G>A (p.Leu616=)
c.1824G>A (p.Leu608=)
c.957G>A (p.Leu319=)
c.870G>A (p.Leu290=)
c.783G>A (p.Leu261=)
n.683G>A
 gnomAD v4
17g.45996601G>CCA500644044MAPTc.672G>C (p.Leu224=)
c.585G>C (p.Leu195=)
c.759G>C (p.Leu253=)
n.623G>C
c.1935G>C (p.Leu645=)
c.1737G>C (p.Leu579=)
c.1710G>C (p.Leu570=)
c.1764G>C (p.Leu588=)
n.713G>C
n.6044G>C
c.2022G>C (p.Leu674=)
c.1848G>C (p.Leu616=)
c.1824G>C (p.Leu608=)
c.957G>C (p.Leu319=)
c.870G>C (p.Leu290=)
c.783G>C (p.Leu261=)
n.683G>C
17g.45996601G>TCA500644043MAPTc.672G>T (p.Leu224=)
c.585G>T (p.Leu195=)
c.759G>T (p.Leu253=)
n.623G>T
c.1935G>T (p.Leu645=)
c.1737G>T (p.Leu579=)
c.1710G>T (p.Leu570=)
c.1764G>T (p.Leu588=)
n.713G>T
n.6044G>T
c.2022G>T (p.Leu674=)
c.1848G>T (p.Leu616=)
c.1824G>T (p.Leu608=)
c.957G>T (p.Leu319=)
c.870G>T (p.Leu290=)
c.783G>T (p.Leu261=)
n.683G>T
17g.45996602A>CCA399978342MAPTc.673A>C (p.Lys225Gln)
c.586A>C (p.Lys196Gln)
c.760A>C (p.Lys254Gln)
n.624A>C
c.1936A>C (p.Lys646Gln)
c.1738A>C (p.Lys580Gln)
c.1711A>C (p.Lys571Gln)
c.1765A>C (p.Lys589Gln)
n.714A>C
n.6045A>C
c.2023A>C (p.Lys675Gln)
c.1849A>C (p.Lys617Gln)
c.1825A>C (p.Lys609Gln)
c.958A>C (p.Lys320Gln)
c.871A>C (p.Lys291Gln)
c.784A>C (p.Lys262Gln)
n.684A>C
17g.45996602A>GCA399978343MAPTc.673A>G (p.Lys225Glu)
c.586A>G (p.Lys196Glu)
c.760A>G (p.Lys254Glu)
n.624A>G
c.1936A>G (p.Lys646Glu)
c.1738A>G (p.Lys580Glu)
c.1711A>G (p.Lys571Glu)
c.1765A>G (p.Lys589Glu)
n.714A>G
n.6045A>G
c.2023A>G (p.Lys675Glu)
c.1849A>G (p.Lys617Glu)
c.1825A>G (p.Lys609Glu)
c.958A>G (p.Lys320Glu)
c.871A>G (p.Lys291Glu)
c.784A>G (p.Lys262Glu)
n.684A>G
 COSMIC COSMIC
17g.45996602A>TCA399978344MAPTc.673A>T (p.Lys225Ter)
c.586A>T (p.Lys196Ter)
c.760A>T (p.Lys254Ter)
n.624A>T
c.1936A>T (p.Lys646Ter)
c.1738A>T (p.Lys580Ter)
c.1711A>T (p.Lys571Ter)
c.1765A>T (p.Lys589Ter)
n.714A>T
n.6045A>T
c.2023A>T (p.Lys675Ter)
c.1849A>T (p.Lys617Ter)
c.1825A>T (p.Lys609Ter)
c.958A>T (p.Lys320Ter)
c.871A>T (p.Lys291Ter)
c.784A>T (p.Lys262Ter)
n.684A>T
17g.45996603A>CCA399978345MAPTc.674A>C (p.Lys225Thr)
c.587A>C (p.Lys196Thr)
c.761A>C (p.Lys254Thr)
n.625A>C
c.1937A>C (p.Lys646Thr)
c.1739A>C (p.Lys580Thr)
c.1712A>C (p.Lys571Thr)
c.1766A>C (p.Lys589Thr)
n.715A>C
n.6046A>C
c.2024A>C (p.Lys675Thr)
c.1850A>C (p.Lys617Thr)
c.1826A>C (p.Lys609Thr)
c.959A>C (p.Lys320Thr)
c.872A>C (p.Lys291Thr)
c.785A>C (p.Lys262Thr)
n.685A>C
17g.45996603A>GCA399978346MAPTc.674A>G (p.Lys225Arg)
c.587A>G (p.Lys196Arg)
c.761A>G (p.Lys254Arg)
n.625A>G
c.1937A>G (p.Lys646Arg)
c.1739A>G (p.Lys580Arg)
c.1712A>G (p.Lys571Arg)
c.1766A>G (p.Lys589Arg)
n.715A>G
n.6046A>G
c.2024A>G (p.Lys675Arg)
c.1850A>G (p.Lys617Arg)
c.1826A>G (p.Lys609Arg)
c.959A>G (p.Lys320Arg)
c.872A>G (p.Lys291Arg)
c.785A>G (p.Lys262Arg)
n.685A>G
17g.45996603A>TCA399978347MAPTc.674A>T (p.Lys225Met)
c.587A>T (p.Lys196Met)
c.761A>T (p.Lys254Met)
n.625A>T
c.1937A>T (p.Lys646Met)
c.1739A>T (p.Lys580Met)
c.1712A>T (p.Lys571Met)
c.1766A>T (p.Lys589Met)
n.715A>T
n.6046A>T
c.2024A>T (p.Lys675Met)
c.1850A>T (p.Lys617Met)
c.1826A>T (p.Lys609Met)
c.959A>T (p.Lys320Met)
c.872A>T (p.Lys291Met)
c.785A>T (p.Lys262Met)
n.685A>T
17g.45996604G>ACA8618060MAPTc.675G>A (p.Lys225=)
c.588G>A (p.Lys196=)
c.762G>A (p.Lys254=)
n.626G>A
c.1938G>A (p.Lys646=)
c.1740G>A (p.Lys580=)
c.1713G>A (p.Lys571=)
c.1767G>A (p.Lys589=)
n.716G>A
n.6047G>A
c.2025G>A (p.Lys675=)
c.1851G>A (p.Lys617=)
c.1827G>A (p.Lys609=)
c.960G>A (p.Lys320=)
c.873G>A (p.Lys291=)
c.786G>A (p.Lys262=)
n.686G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996604G>CCA399978348MAPTc.675G>C (p.Lys225Asn)
c.588G>C (p.Lys196Asn)
c.762G>C (p.Lys254Asn)
n.626G>C
c.1938G>C (p.Lys646Asn)
c.1740G>C (p.Lys580Asn)
c.1713G>C (p.Lys571Asn)
c.1767G>C (p.Lys589Asn)
n.716G>C
n.6047G>C
c.2025G>C (p.Lys675Asn)
c.1851G>C (p.Lys617Asn)
c.1827G>C (p.Lys609Asn)
c.960G>C (p.Lys320Asn)
c.873G>C (p.Lys291Asn)
c.786G>C (p.Lys262Asn)
n.686G>C
17g.45996604G=CA2262095031MAPTc.675G= (p.Lys225=)
c.588G= (p.Lys196=)
c.762G= (p.Lys254=)
n.626G=
c.1938G= (p.Lys646=)
c.1740G= (p.Lys580=)
c.1713G= (p.Lys571=)
c.1767G= (p.Lys589=)
n.716G=
n.6047G=
c.2025G= (p.Lys675=)
c.1851G= (p.Lys617=)
c.1827G= (p.Lys609=)
c.960G= (p.Lys320=)
c.873G= (p.Lys291=)
c.786G= (p.Lys262=)
n.686G=
17g.45996604G>TCA399978349MAPTc.675G>T (p.Lys225Asn)
c.588G>T (p.Lys196Asn)
c.762G>T (p.Lys254Asn)
n.626G>T
c.1938G>T (p.Lys646Asn)
c.1740G>T (p.Lys580Asn)
c.1713G>T (p.Lys571Asn)
c.1767G>T (p.Lys589Asn)
n.716G>T
n.6047G>T
c.2025G>T (p.Lys675Asn)
c.1851G>T (p.Lys617Asn)
c.1827G>T (p.Lys609Asn)
c.960G>T (p.Lys320Asn)
c.873G>T (p.Lys291Asn)
c.786G>T (p.Lys262Asn)
n.686G>T
17g.45996605A>CCA399978350MAPTc.676A>C (p.Asn226His)
c.589A>C (p.Asn197His)
c.763A>C (p.Asn255His)
n.627A>C
c.1939A>C (p.Asn647His)
c.1741A>C (p.Asn581His)
c.1714A>C (p.Asn572His)
c.1768A>C (p.Asn590His)
n.717A>C
n.6048A>C
c.2026A>C (p.Asn676His)
c.1852A>C (p.Asn618His)
c.1828A>C (p.Asn610His)
c.961A>C (p.Asn321His)
c.874A>C (p.Asn292His)
c.787A>C (p.Asn263His)
n.687A>C
17g.45996605A>GCA399978351MAPTc.676A>G (p.Asn226Asp)
c.589A>G (p.Asn197Asp)
c.763A>G (p.Asn255Asp)
n.627A>G
c.1939A>G (p.Asn647Asp)
c.1741A>G (p.Asn581Asp)
c.1714A>G (p.Asn572Asp)
c.1768A>G (p.Asn590Asp)
n.717A>G
n.6048A>G
c.2026A>G (p.Asn676Asp)
c.1852A>G (p.Asn618Asp)
c.1828A>G (p.Asn610Asp)
c.961A>G (p.Asn321Asp)
c.874A>G (p.Asn292Asp)
c.787A>G (p.Asn263Asp)
n.687A>G
 gnomAD v4
17g.45996605A>TCA399978352MAPTc.676A>T (p.Asn226Tyr)
c.589A>T (p.Asn197Tyr)
c.763A>T (p.Asn255Tyr)
n.627A>T
c.1939A>T (p.Asn647Tyr)
c.1741A>T (p.Asn581Tyr)
c.1714A>T (p.Asn572Tyr)
c.1768A>T (p.Asn590Tyr)
n.717A>T
n.6048A>T
c.2026A>T (p.Asn676Tyr)
c.1852A>T (p.Asn618Tyr)
c.1828A>T (p.Asn610Tyr)
c.961A>T (p.Asn321Tyr)
c.874A>T (p.Asn292Tyr)
c.787A>T (p.Asn263Tyr)
n.687A>T
17g.45996607_45996612delCA645579839MAPTc.678_683del (p.Asn226_Val227del)
c.591_596del (p.Asn197_Val198del)
c.765_770del (p.Asn255_Val256del)
n.629_634del
c.1941_1946del (p.Asn647_Val648del)
c.1743_1748del (p.Asn581_Val582del)
c.1716_1721del (p.Asn572_Val573del)
c.1770_1775del (p.Asn590_Val591del)
n.719_724del
n.6050_6055del
c.2028_2033del (p.Asn676_Val677del)
c.1854_1859del (p.Asn618_Val619del)
c.1830_1835del (p.Asn610_Val611del)
c.963_968del (p.Asn321_Val322del)
c.876_881del (p.Asn292_Val293del)
c.789_794del (p.Asn263_Val264del)
n.689_694del
 COSMIC COSMIC COSMIC
17g.45996606A>CCA399978355MAPTc.677A>C (p.Asn226Thr)
c.590A>C (p.Asn197Thr)
c.764A>C (p.Asn255Thr)
n.628A>C
c.1940A>C (p.Asn647Thr)
c.1742A>C (p.Asn581Thr)
c.1715A>C (p.Asn572Thr)
c.1769A>C (p.Asn590Thr)
n.718A>C
n.6049A>C
c.2027A>C (p.Asn676Thr)
c.1853A>C (p.Asn618Thr)
c.1829A>C (p.Asn610Thr)
c.962A>C (p.Asn321Thr)
c.875A>C (p.Asn292Thr)
c.788A>C (p.Asn263Thr)
n.688A>C
17g.45996606A>GCA399978353MAPTc.677A>G (p.Asn226Ser)
c.590A>G (p.Asn197Ser)
c.764A>G (p.Asn255Ser)
n.628A>G
c.1940A>G (p.Asn647Ser)
c.1742A>G (p.Asn581Ser)
c.1715A>G (p.Asn572Ser)
c.1769A>G (p.Asn590Ser)
n.718A>G
n.6049A>G
c.2027A>G (p.Asn676Ser)
c.1853A>G (p.Asn618Ser)
c.1829A>G (p.Asn610Ser)
c.962A>G (p.Asn321Ser)
c.875A>G (p.Asn292Ser)
c.788A>G (p.Asn263Ser)
n.688A>G
 gnomAD v4
17g.45996606A>TCA399978354MAPTc.677A>T (p.Asn226Ile)
c.590A>T (p.Asn197Ile)
c.764A>T (p.Asn255Ile)
n.628A>T
c.1940A>T (p.Asn647Ile)
c.1742A>T (p.Asn581Ile)
c.1715A>T (p.Asn572Ile)
c.1769A>T (p.Asn590Ile)
n.718A>T
n.6049A>T
c.2027A>T (p.Asn676Ile)
c.1853A>T (p.Asn618Ile)
c.1829A>T (p.Asn610Ile)
c.962A>T (p.Asn321Ile)
c.875A>T (p.Asn292Ile)
c.788A>T (p.Asn263Ile)
n.688A>T
17g.45996607T>ACA399978356MAPTc.678T>A (p.Asn226Lys)
c.591T>A (p.Asn197Lys)
c.765T>A (p.Asn255Lys)
n.629T>A
c.1941T>A (p.Asn647Lys)
c.1743T>A (p.Asn581Lys)
c.1716T>A (p.Asn572Lys)
c.1770T>A (p.Asn590Lys)
n.719T>A
n.6050T>A
c.2028T>A (p.Asn676Lys)
c.1854T>A (p.Asn618Lys)
c.1830T>A (p.Asn610Lys)
c.963T>A (p.Asn321Lys)
c.876T>A (p.Asn292Lys)
c.789T>A (p.Asn263Lys)
n.689T>A
17g.45996607T>CCA225411MAPTc.678T>C (p.Asn226=)
c.591T>C (p.Asn197=)
c.765T>C (p.Asn255=)
n.629T>C
c.1941T>C (p.Asn647=)
c.1743T>C (p.Asn581=)
c.1716T>C (p.Asn572=)
c.1770T>C (p.Asn590=)
n.719T>C
n.6050T>C
c.2028T>C (p.Asn676=)
c.1854T>C (p.Asn618=)
c.1830T>C (p.Asn610=)
c.963T>C (p.Asn321=)
c.876T>C (p.Asn292=)
c.789T>C (p.Asn263=)
n.689T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996607T>GCA399978357MAPTc.678T>G (p.Asn226Lys)
c.591T>G (p.Asn197Lys)
c.765T>G (p.Asn255Lys)
n.629T>G
c.1941T>G (p.Asn647Lys)
c.1743T>G (p.Asn581Lys)
c.1716T>G (p.Asn572Lys)
c.1770T>G (p.Asn590Lys)
n.719T>G
n.6050T>G
c.2028T>G (p.Asn676Lys)
c.1854T>G (p.Asn618Lys)
c.1830T>G (p.Asn610Lys)
c.963T>G (p.Asn321Lys)
c.876T>G (p.Asn292Lys)
c.789T>G (p.Asn263Lys)
n.689T>G
17g.45996607T=CA2262095032MAPTc.678T= (p.Asn226=)
c.591T= (p.Asn197=)
c.765T= (p.Asn255=)
n.629T=
c.1941T= (p.Asn647=)
c.1743T= (p.Asn581=)
c.1716T= (p.Asn572=)
c.1770T= (p.Asn590=)
n.719T=
n.6050T=
c.2028T= (p.Asn676=)
c.1854T= (p.Asn618=)
c.1830T= (p.Asn610=)
c.963T= (p.Asn321=)
c.876T= (p.Asn292=)
c.789T= (p.Asn263=)
n.689T=
17g.45996608G>ACA8618061MAPTc.679G>A (p.Val227Ile)
c.592G>A (p.Val198Ile)
c.766G>A (p.Val256Ile)
n.630G>A
c.1942G>A (p.Val648Ile)
c.1744G>A (p.Val582Ile)
c.1717G>A (p.Val573Ile)
c.1771G>A (p.Val591Ile)
n.720G>A
n.6051G>A
c.2029G>A (p.Val677Ile)
c.1855G>A (p.Val619Ile)
c.1831G>A (p.Val611Ile)
c.964G>A (p.Val322Ile)
c.877G>A (p.Val293Ile)
c.790G>A (p.Val264Ile)
n.690G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996608G>CCA399978358MAPTc.679G>C (p.Val227Leu)
c.592G>C (p.Val198Leu)
c.766G>C (p.Val256Leu)
n.630G>C
c.1942G>C (p.Val648Leu)
c.1744G>C (p.Val582Leu)
c.1717G>C (p.Val573Leu)
c.1771G>C (p.Val591Leu)
n.720G>C
n.6051G>C
c.2029G>C (p.Val677Leu)
c.1855G>C (p.Val619Leu)
c.1831G>C (p.Val611Leu)
c.964G>C (p.Val322Leu)
c.877G>C (p.Val293Leu)
c.790G>C (p.Val264Leu)
n.690G>C
17g.45996608G=CA2262095033MAPTc.679G= (p.Val227=)
c.592G= (p.Val198=)
c.766G= (p.Val256=)
n.630G=
c.1942G= (p.Val648=)
c.1744G= (p.Val582=)
c.1717G= (p.Val573=)
c.1771G= (p.Val591=)
n.720G=
n.6051G=
c.2029G= (p.Val677=)
c.1855G= (p.Val619=)
c.1831G= (p.Val611=)
c.964G= (p.Val322=)
c.877G= (p.Val293=)
c.790G= (p.Val264=)
n.690G=
17g.45996608G>TCA399978359MAPTc.679G>T (p.Val227Phe)
c.592G>T (p.Val198Phe)
c.766G>T (p.Val256Phe)
n.630G>T
c.1942G>T (p.Val648Phe)
c.1744G>T (p.Val582Phe)
c.1717G>T (p.Val573Phe)
c.1771G>T (p.Val591Phe)
n.720G>T
n.6051G>T
c.2029G>T (p.Val677Phe)
c.1855G>T (p.Val619Phe)
c.1831G>T (p.Val611Phe)
c.964G>T (p.Val322Phe)
c.877G>T (p.Val293Phe)
c.790G>T (p.Val264Phe)
n.690G>T
17g.45996609T>ACA399978360MAPTc.680T>A (p.Val227Asp)
c.593T>A (p.Val198Asp)
c.767T>A (p.Val256Asp)
n.631T>A
c.1943T>A (p.Val648Asp)
c.1745T>A (p.Val582Asp)
c.1718T>A (p.Val573Asp)
c.1772T>A (p.Val591Asp)
n.721T>A
n.6052T>A
c.2030T>A (p.Val677Asp)
c.1856T>A (p.Val619Asp)
c.1832T>A (p.Val611Asp)
c.965T>A (p.Val322Asp)
c.878T>A (p.Val293Asp)
c.791T>A (p.Val264Asp)
n.691T>A
17g.45996609T>CCA399978361MAPTc.680T>C (p.Val227Ala)
c.593T>C (p.Val198Ala)
c.767T>C (p.Val256Ala)
n.631T>C
c.1943T>C (p.Val648Ala)
c.1745T>C (p.Val582Ala)
c.1718T>C (p.Val573Ala)
c.1772T>C (p.Val591Ala)
n.721T>C
n.6052T>C
c.2030T>C (p.Val677Ala)
c.1856T>C (p.Val619Ala)
c.1832T>C (p.Val611Ala)
c.965T>C (p.Val322Ala)
c.878T>C (p.Val293Ala)
c.791T>C (p.Val264Ala)
n.691T>C
17g.45996609T>GCA399978362MAPTc.680T>G (p.Val227Gly)
c.593T>G (p.Val198Gly)
c.767T>G (p.Val256Gly)
n.631T>G
c.1943T>G (p.Val648Gly)
c.1745T>G (p.Val582Gly)
c.1718T>G (p.Val573Gly)
c.1772T>G (p.Val591Gly)
n.721T>G
n.6052T>G
c.2030T>G (p.Val677Gly)
c.1856T>G (p.Val619Gly)
c.1832T>G (p.Val611Gly)
c.965T>G (p.Val322Gly)
c.878T>G (p.Val293Gly)
c.791T>G (p.Val264Gly)
n.691T>G
17g.45996610C>ACA500644045MAPTc.681C>A (p.Val227=)
c.594C>A (p.Val198=)
c.768C>A (p.Val256=)
n.632C>A
c.1944C>A (p.Val648=)
c.1746C>A (p.Val582=)
c.1719C>A (p.Val573=)
c.1773C>A (p.Val591=)
n.722C>A
n.6053C>A
c.2031C>A (p.Val677=)
c.1857C>A (p.Val619=)
c.1833C>A (p.Val611=)
c.966C>A (p.Val322=)
c.879C>A (p.Val293=)
c.792C>A (p.Val264=)
n.692C>A
17g.45996610C>GCA500644046MAPTc.681C>G (p.Val227=)
c.594C>G (p.Val198=)
c.768C>G (p.Val256=)
n.632C>G
c.1944C>G (p.Val648=)
c.1746C>G (p.Val582=)
c.1719C>G (p.Val573=)
c.1773C>G (p.Val591=)
n.722C>G
n.6053C>G
c.2031C>G (p.Val677=)
c.1857C>G (p.Val619=)
c.1833C>G (p.Val611=)
c.966C>G (p.Val322=)
c.879C>G (p.Val293=)
c.792C>G (p.Val264=)
n.692C>G
17g.45996610C>TCA500644047MAPTc.681C>T (p.Val227=)
c.594C>T (p.Val198=)
c.768C>T (p.Val256=)
n.632C>T
c.1944C>T (p.Val648=)
c.1746C>T (p.Val582=)
c.1719C>T (p.Val573=)
c.1773C>T (p.Val591=)
n.722C>T
n.6053C>T
c.2031C>T (p.Val677=)
c.1857C>T (p.Val619=)
c.1833C>T (p.Val611=)
c.966C>T (p.Val322=)
c.879C>T (p.Val293=)
c.792C>T (p.Val264=)
n.692C>T
17g.45996611A>CCA399978363MAPTc.682A>C (p.Lys228Gln)
c.595A>C (p.Lys199Gln)
c.769A>C (p.Lys257Gln)
n.633A>C
n.1A>C
c.1945A>C (p.Lys649Gln)
c.1747A>C (p.Lys583Gln)
c.1720A>C (p.Lys574Gln)
c.1774A>C (p.Lys592Gln)
n.723A>C
n.6054A>C
c.2032A>C (p.Lys678Gln)
c.1858A>C (p.Lys620Gln)
c.1834A>C (p.Lys612Gln)
c.967A>C (p.Lys323Gln)
c.880A>C (p.Lys294Gln)
c.793A>C (p.Lys265Gln)
n.693A>C
17g.45996611A>GCA399978364MAPTc.682A>G (p.Lys228Glu)
c.595A>G (p.Lys199Glu)
c.769A>G (p.Lys257Glu)
n.633A>G
n.1A>G
c.1945A>G (p.Lys649Glu)
c.1747A>G (p.Lys583Glu)
c.1720A>G (p.Lys574Glu)
c.1774A>G (p.Lys592Glu)
n.723A>G
n.6054A>G
c.2032A>G (p.Lys678Glu)
c.1858A>G (p.Lys620Glu)
c.1834A>G (p.Lys612Glu)
c.967A>G (p.Lys323Glu)
c.880A>G (p.Lys294Glu)
c.793A>G (p.Lys265Glu)
n.693A>G
17g.45996611A>TCA399978365MAPTc.682A>T (p.Lys228Ter)
c.595A>T (p.Lys199Ter)
c.769A>T (p.Lys257Ter)
n.633A>T
n.1A>T
c.1945A>T (p.Lys649Ter)
c.1747A>T (p.Lys583Ter)
c.1720A>T (p.Lys574Ter)
c.1774A>T (p.Lys592Ter)
n.723A>T
n.6054A>T
c.2032A>T (p.Lys678Ter)
c.1858A>T (p.Lys620Ter)
c.1834A>T (p.Lys612Ter)
c.967A>T (p.Lys323Ter)
c.880A>T (p.Lys294Ter)
c.793A>T (p.Lys265Ter)
n.693A>T
17g.45996612A=CA2262095034MAPTc.683A= (p.Lys228=)
c.596A= (p.Lys199=)
c.770A= (p.Lys257=)
n.634A=
n.2A=
c.1946A= (p.Lys649=)
c.1748A= (p.Lys583=)
c.1721A= (p.Lys574=)
c.1775A= (p.Lys592=)
n.724A=
n.6055A=
c.2033A= (p.Lys678=)
c.1859A= (p.Lys620=)
c.1835A= (p.Lys612=)
c.968A= (p.Lys323=)
c.881A= (p.Lys294=)
c.794A= (p.Lys265=)
n.694A=
17g.45996612A>CCA225413MAPTc.683A>C (p.Lys228Thr)
c.596A>C (p.Lys199Thr)
c.770A>C (p.Lys257Thr)
n.634A>C
n.2A>C
c.1946A>C (p.Lys649Thr)
c.1748A>C (p.Lys583Thr)
c.1721A>C (p.Lys574Thr)
c.1775A>C (p.Lys592Thr)
n.724A>C
n.6055A>C
c.2033A>C (p.Lys678Thr)
c.1859A>C (p.Lys620Thr)
c.1835A>C (p.Lys612Thr)
c.968A>C (p.Lys323Thr)
c.881A>C (p.Lys294Thr)
c.794A>C (p.Lys265Thr)
n.694A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.45996612A>GCA399978367MAPTc.683A>G (p.Lys228Arg)
c.596A>G (p.Lys199Arg)
c.770A>G (p.Lys257Arg)
n.634A>G
n.2A>G
c.1946A>G (p.Lys649Arg)
c.1748A>G (p.Lys583Arg)
c.1721A>G (p.Lys574Arg)
c.1775A>G (p.Lys592Arg)
n.724A>G
n.6055A>G
c.2033A>G (p.Lys678Arg)
c.1859A>G (p.Lys620Arg)
c.1835A>G (p.Lys612Arg)
c.968A>G (p.Lys323Arg)
c.881A>G (p.Lys294Arg)
c.794A>G (p.Lys265Arg)
n.694A>G
17g.45996612A>TCA399978366MAPTc.683A>T (p.Lys228Met)
c.596A>T (p.Lys199Met)
c.770A>T (p.Lys257Met)
n.634A>T
n.2A>T
c.1946A>T (p.Lys649Met)
c.1748A>T (p.Lys583Met)
c.1721A>T (p.Lys574Met)
c.1775A>T (p.Lys592Met)
n.724A>T
n.6055A>T
c.2033A>T (p.Lys678Met)
c.1859A>T (p.Lys620Met)
c.1835A>T (p.Lys612Met)
c.968A>T (p.Lys323Met)
c.881A>T (p.Lys294Met)
c.794A>T (p.Lys265Met)
n.694A>T
17g.45996613G>ACA500644048MAPTc.684G>A (p.Lys228=)
c.597G>A (p.Lys199=)
c.771G>A (p.Lys257=)
n.635G>A
n.3G>A
c.1947G>A (p.Lys649=)
c.1749G>A (p.Lys583=)
c.1722G>A (p.Lys574=)
c.1776G>A (p.Lys592=)
n.725G>A
n.6056G>A
c.2034G>A (p.Lys678=)
c.1860G>A (p.Lys620=)
c.1836G>A (p.Lys612=)
c.969G>A (p.Lys323=)
c.882G>A (p.Lys294=)
c.795G>A (p.Lys265=)
n.695G>A
17g.45996613G>CCA399978369MAPTc.684G>C (p.Lys228Asn)
c.597G>C (p.Lys199Asn)
c.771G>C (p.Lys257Asn)
n.635G>C
n.3G>C
c.1947G>C (p.Lys649Asn)
c.1749G>C (p.Lys583Asn)
c.1722G>C (p.Lys574Asn)
c.1776G>C (p.Lys592Asn)
n.725G>C
n.6056G>C
c.2034G>C (p.Lys678Asn)
c.1860G>C (p.Lys620Asn)
c.1836G>C (p.Lys612Asn)
c.969G>C (p.Lys323Asn)
c.882G>C (p.Lys294Asn)
c.795G>C (p.Lys265Asn)
n.695G>C
17g.45996613G>TCA399978368MAPTc.684G>T (p.Lys228Asn)
c.597G>T (p.Lys199Asn)
c.771G>T (p.Lys257Asn)
n.635G>T
n.3G>T
c.1947G>T (p.Lys649Asn)
c.1749G>T (p.Lys583Asn)
c.1722G>T (p.Lys574Asn)
c.1776G>T (p.Lys592Asn)
n.725G>T
n.6056G>T
c.2034G>T (p.Lys678Asn)
c.1860G>T (p.Lys620Asn)
c.1836G>T (p.Lys612Asn)
c.969G>T (p.Lys323Asn)
c.882G>T (p.Lys294Asn)
c.795G>T (p.Lys265Asn)
n.695G>T
17g.45996614T>ACA399978370MAPTc.685T>A (p.Ser229Thr)
c.598T>A (p.Ser200Thr)
c.772T>A (p.Ser258Thr)
n.636T>A
n.4T>A
c.1948T>A (p.Ser650Thr)
c.1750T>A (p.Ser584Thr)
c.1723T>A (p.Ser575Thr)
c.1777T>A (p.Ser593Thr)
n.726T>A
n.6057T>A
c.2035T>A (p.Ser679Thr)
c.1861T>A (p.Ser621Thr)
c.1837T>A (p.Ser613Thr)
c.970T>A (p.Ser324Thr)
c.883T>A (p.Ser295Thr)
c.796T>A (p.Ser266Thr)
n.696T>A
17g.45996614T>CCA399978371MAPTc.685T>C (p.Ser229Pro)
c.598T>C (p.Ser200Pro)
c.772T>C (p.Ser258Pro)
n.636T>C
n.4T>C
c.1948T>C (p.Ser650Pro)
c.1750T>C (p.Ser584Pro)
c.1723T>C (p.Ser575Pro)
c.1777T>C (p.Ser593Pro)
n.726T>C
n.6057T>C
c.2035T>C (p.Ser679Pro)
c.1861T>C (p.Ser621Pro)
c.1837T>C (p.Ser613Pro)
c.970T>C (p.Ser324Pro)
c.883T>C (p.Ser295Pro)
c.796T>C (p.Ser266Pro)
n.696T>C
17g.45996614T>GCA399978372MAPTc.685T>G (p.Ser229Ala)
c.598T>G (p.Ser200Ala)
c.772T>G (p.Ser258Ala)
n.636T>G
n.4T>G
c.1948T>G (p.Ser650Ala)
c.1750T>G (p.Ser584Ala)
c.1723T>G (p.Ser575Ala)
c.1777T>G (p.Ser593Ala)
n.726T>G
n.6057T>G
c.2035T>G (p.Ser679Ala)
c.1861T>G (p.Ser621Ala)
c.1837T>G (p.Ser613Ala)
c.970T>G (p.Ser324Ala)
c.883T>G (p.Ser295Ala)
c.796T>G (p.Ser266Ala)
n.696T>G
17g.45996615C>ACA399978373MAPTc.686C>A (p.Ser229Tyr)
c.599C>A (p.Ser200Tyr)
c.773C>A (p.Ser258Tyr)
n.637C>A
n.5C>A
c.1949C>A (p.Ser650Tyr)
c.1751C>A (p.Ser584Tyr)
c.1724C>A (p.Ser575Tyr)
c.1778C>A (p.Ser593Tyr)
n.727C>A
n.6058C>A
c.2036C>A (p.Ser679Tyr)
c.1862C>A (p.Ser621Tyr)
c.1838C>A (p.Ser613Tyr)
c.971C>A (p.Ser324Tyr)
c.884C>A (p.Ser295Tyr)
c.797C>A (p.Ser266Tyr)
n.697C>A
17g.45996615C>GCA399978374MAPTc.686C>G (p.Ser229Cys)
c.599C>G (p.Ser200Cys)
c.773C>G (p.Ser258Cys)
n.637C>G
n.5C>G
c.1949C>G (p.Ser650Cys)
c.1751C>G (p.Ser584Cys)
c.1724C>G (p.Ser575Cys)
c.1778C>G (p.Ser593Cys)
n.727C>G
n.6058C>G
c.2036C>G (p.Ser679Cys)
c.1862C>G (p.Ser621Cys)
c.1838C>G (p.Ser613Cys)
c.971C>G (p.Ser324Cys)
c.884C>G (p.Ser295Cys)
c.797C>G (p.Ser266Cys)
n.697C>G
17g.45996615C>TCA399978375MAPTc.686C>T (p.Ser229Phe)
c.599C>T (p.Ser200Phe)
c.773C>T (p.Ser258Phe)
n.637C>T
n.5C>T
c.1949C>T (p.Ser650Phe)
c.1751C>T (p.Ser584Phe)
c.1724C>T (p.Ser575Phe)
c.1778C>T (p.Ser593Phe)
n.727C>T
n.6058C>T
c.2036C>T (p.Ser679Phe)
c.1862C>T (p.Ser621Phe)
c.1838C>T (p.Ser613Phe)
c.971C>T (p.Ser324Phe)
c.884C>T (p.Ser295Phe)
c.797C>T (p.Ser266Phe)
n.697C>T
17g.45996616C>ACA500644049MAPTc.687C>A (p.Ser229=)
c.600C>A (p.Ser200=)
c.774C>A (p.Ser258=)
n.638C>A
n.6C>A
c.1950C>A (p.Ser650=)
c.1752C>A (p.Ser584=)
c.1725C>A (p.Ser575=)
c.1779C>A (p.Ser593=)
n.728C>A
n.6059C>A
c.2037C>A (p.Ser679=)
c.1863C>A (p.Ser621=)
c.1839C>A (p.Ser613=)
c.972C>A (p.Ser324=)
c.885C>A (p.Ser295=)
c.798C>A (p.Ser266=)
n.698C>A
 gnomAD v4 COSMIC COSMIC COSMIC
17g.45996616C>GCA500644051MAPTc.687C>G (p.Ser229=)
c.600C>G (p.Ser200=)
c.774C>G (p.Ser258=)
n.638C>G
n.6C>G
c.1950C>G (p.Ser650=)
c.1752C>G (p.Ser584=)
c.1725C>G (p.Ser575=)
c.1779C>G (p.Ser593=)
n.728C>G
n.6059C>G
c.2037C>G (p.Ser679=)
c.1863C>G (p.Ser621=)
c.1839C>G (p.Ser613=)
c.972C>G (p.Ser324=)
c.885C>G (p.Ser295=)
c.798C>G (p.Ser266=)
n.698C>G
17g.45996616C>TCA500644050MAPTc.687C>T (p.Ser229=)
c.600C>T (p.Ser200=)
c.774C>T (p.Ser258=)
n.638C>T
n.6C>T
c.1950C>T (p.Ser650=)
c.1752C>T (p.Ser584=)
c.1725C>T (p.Ser575=)
c.1779C>T (p.Ser593=)
n.728C>T
n.6059C>T
c.2037C>T (p.Ser679=)
c.1863C>T (p.Ser621=)
c.1839C>T (p.Ser613=)
c.972C>T (p.Ser324=)
c.885C>T (p.Ser295=)
c.798C>T (p.Ser266=)
n.698C>T
17g.45996617A>CCA399978378MAPTc.688A>C (p.Lys230Gln)
c.601A>C (p.Lys201Gln)
c.775A>C (p.Lys259Gln)
n.639A>C
n.7A>C
c.1951A>C (p.Lys651Gln)
c.1753A>C (p.Lys585Gln)
c.1726A>C (p.Lys576Gln)
c.1780A>C (p.Lys594Gln)
n.729A>C
n.6060A>C
c.2038A>C (p.Lys680Gln)
c.1864A>C (p.Lys622Gln)
c.1840A>C (p.Lys614Gln)
c.973A>C (p.Lys325Gln)
c.886A>C (p.Lys296Gln)
c.799A>C (p.Lys267Gln)
n.699A>C
17g.45996617A>GCA399978376MAPTc.688A>G (p.Lys230Glu)
c.601A>G (p.Lys201Glu)
c.775A>G (p.Lys259Glu)
n.639A>G
n.7A>G
c.1951A>G (p.Lys651Glu)
c.1753A>G (p.Lys585Glu)
c.1726A>G (p.Lys576Glu)
c.1780A>G (p.Lys594Glu)
n.729A>G
n.6060A>G
c.2038A>G (p.Lys680Glu)
c.1864A>G (p.Lys622Glu)
c.1840A>G (p.Lys614Glu)
c.973A>G (p.Lys325Glu)
c.886A>G (p.Lys296Glu)
c.799A>G (p.Lys267Glu)
n.699A>G
17g.45996617A>TCA399978377MAPTc.688A>T (p.Lys230Ter)
c.601A>T (p.Lys201Ter)
c.775A>T (p.Lys259Ter)
n.639A>T
n.7A>T
c.1951A>T (p.Lys651Ter)
c.1753A>T (p.Lys585Ter)
c.1726A>T (p.Lys576Ter)
c.1780A>T (p.Lys594Ter)
n.729A>T
n.6060A>T
c.2038A>T (p.Lys680Ter)
c.1864A>T (p.Lys622Ter)
c.1840A>T (p.Lys614Ter)
c.973A>T (p.Lys325Ter)
c.886A>T (p.Lys296Ter)
c.799A>T (p.Lys267Ter)
n.699A>T
17g.45996618A=CA2262095035MAPTc.689A= (p.Lys230=)
c.602A= (p.Lys201=)
c.776A= (p.Lys259=)
n.640A=
n.8A=
c.1952A= (p.Lys651=)
c.1754A= (p.Lys585=)
c.1727A= (p.Lys576=)
c.1781A= (p.Lys594=)
n.730A=
n.6061A=
c.2039A= (p.Lys680=)
c.1865A= (p.Lys622=)
c.1841A= (p.Lys614=)
c.974A= (p.Lys325=)
c.887A= (p.Lys296=)
c.800A= (p.Lys267=)
n.700A=
17g.45996618A>CCA399978379MAPTc.689A>C (p.Lys230Thr)
c.602A>C (p.Lys201Thr)
c.776A>C (p.Lys259Thr)
n.640A>C
n.8A>C
c.1952A>C (p.Lys651Thr)
c.1754A>C (p.Lys585Thr)
c.1727A>C (p.Lys576Thr)
c.1781A>C (p.Lys594Thr)
n.730A>C
n.6061A>C
c.2039A>C (p.Lys680Thr)
c.1865A>C (p.Lys622Thr)
c.1841A>C (p.Lys614Thr)
c.974A>C (p.Lys325Thr)
c.887A>C (p.Lys296Thr)
c.800A>C (p.Lys267Thr)
n.700A>C
17g.45996618A>GCA399978380MAPTc.689A>G (p.Lys230Arg)
c.602A>G (p.Lys201Arg)
c.776A>G (p.Lys259Arg)
n.640A>G
n.8A>G
c.1952A>G (p.Lys651Arg)
c.1754A>G (p.Lys585Arg)
c.1727A>G (p.Lys576Arg)
c.1781A>G (p.Lys594Arg)
n.730A>G
n.6061A>G
c.2039A>G (p.Lys680Arg)
c.1865A>G (p.Lys622Arg)
c.1841A>G (p.Lys614Arg)
c.974A>G (p.Lys325Arg)
c.887A>G (p.Lys296Arg)
c.800A>G (p.Lys267Arg)
n.700A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.45996618A>TCA399978381MAPTc.689A>T (p.Lys230Met)
c.602A>T (p.Lys201Met)
c.776A>T (p.Lys259Met)
n.640A>T
n.8A>T
c.1952A>T (p.Lys651Met)
c.1754A>T (p.Lys585Met)
c.1727A>T (p.Lys576Met)
c.1781A>T (p.Lys594Met)
n.730A>T
n.6061A>T
c.2039A>T (p.Lys680Met)
c.1865A>T (p.Lys622Met)
c.1841A>T (p.Lys614Met)
c.974A>T (p.Lys325Met)
c.887A>T (p.Lys296Met)
c.800A>T (p.Lys267Met)
n.700A>T
17g.45996619G>ACA500644052MAPTc.690G>A (p.Lys230=)
c.603G>A (p.Lys201=)
c.777G>A (p.Lys259=)
n.641G>A
n.9G>A
c.1953G>A (p.Lys651=)
c.1755G>A (p.Lys585=)
c.1728G>A (p.Lys576=)
c.1782G>A (p.Lys594=)
n.731G>A
n.6062G>A
c.2040G>A (p.Lys680=)
c.1866G>A (p.Lys622=)
c.1842G>A (p.Lys614=)
c.975G>A (p.Lys325=)
c.888G>A (p.Lys296=)
c.801G>A (p.Lys267=)
n.701G>A
17g.45996619G>CCA399978382MAPTc.690G>C (p.Lys230Asn)
c.603G>C (p.Lys201Asn)
c.777G>C (p.Lys259Asn)
n.641G>C
n.9G>C
c.1953G>C (p.Lys651Asn)
c.1755G>C (p.Lys585Asn)
c.1728G>C (p.Lys576Asn)
c.1782G>C (p.Lys594Asn)
n.731G>C
n.6062G>C
c.2040G>C (p.Lys680Asn)
c.1866G>C (p.Lys622Asn)
c.1842G>C (p.Lys614Asn)
c.975G>C (p.Lys325Asn)
c.888G>C (p.Lys296Asn)
c.801G>C (p.Lys267Asn)
n.701G>C
17g.45996619G>TCA399978383MAPTc.690G>T (p.Lys230Asn)
c.603G>T (p.Lys201Asn)
c.777G>T (p.Lys259Asn)
n.641G>T
n.9G>T
c.1953G>T (p.Lys651Asn)
c.1755G>T (p.Lys585Asn)
c.1728G>T (p.Lys576Asn)
c.1782G>T (p.Lys594Asn)
n.731G>T
n.6062G>T
c.2040G>T (p.Lys680Asn)
c.1866G>T (p.Lys622Asn)
c.1842G>T (p.Lys614Asn)
c.975G>T (p.Lys325Asn)
c.888G>T (p.Lys296Asn)
c.801G>T (p.Lys267Asn)
n.701G>T
17g.45996620A=CA2262095036MAPTc.691A= (p.Ile231=)
c.604A= (p.Ile202=)
c.778A= (p.Ile260=)
n.642A=
n.10A=
c.1954A= (p.Ile652=)
c.1756A= (p.Ile586=)
c.1729A= (p.Ile577=)
c.1783A= (p.Ile595=)
n.732A=
n.6063A=
c.2041A= (p.Ile681=)
c.1867A= (p.Ile623=)
c.1843A= (p.Ile615=)
c.976A= (p.Ile326=)
c.889A= (p.Ile297=)
c.802A= (p.Ile268=)
n.702A=
17g.45996620A>CCA399978384MAPTc.691A>C (p.Ile231Leu)
c.604A>C (p.Ile202Leu)
c.778A>C (p.Ile260Leu)
n.642A>C
n.10A>C
c.1954A>C (p.Ile652Leu)
c.1756A>C (p.Ile586Leu)
c.1729A>C (p.Ile577Leu)
c.1783A>C (p.Ile595Leu)
n.732A>C
n.6063A>C
c.2041A>C (p.Ile681Leu)
c.1867A>C (p.Ile623Leu)
c.1843A>C (p.Ile615Leu)
c.976A>C (p.Ile326Leu)
c.889A>C (p.Ile297Leu)
c.802A>C (p.Ile268Leu)
n.702A>C
17g.45996620A>GCA225415MAPTc.691A>G (p.Ile231Val)
c.604A>G (p.Ile202Val)
c.778A>G (p.Ile260Val)
n.642A>G
n.10A>G
c.1954A>G (p.Ile652Val)
c.1756A>G (p.Ile586Val)
c.1729A>G (p.Ile577Val)
c.1783A>G (p.Ile595Val)
n.732A>G
n.6063A>G
c.2041A>G (p.Ile681Val)
c.1867A>G (p.Ile623Val)
c.1843A>G (p.Ile615Val)
c.976A>G (p.Ile326Val)
c.889A>G (p.Ile297Val)
c.802A>G (p.Ile268Val)
n.702A>G
 ClinVar dbSNP
17g.45996620A>TCA399978385MAPTc.691A>T (p.Ile231Phe)
c.604A>T (p.Ile202Phe)
c.778A>T (p.Ile260Phe)
n.642A>T
n.10A>T
c.1954A>T (p.Ile652Phe)
c.1756A>T (p.Ile586Phe)
c.1729A>T (p.Ile577Phe)
c.1783A>T (p.Ile595Phe)
n.732A>T
n.6063A>T
c.2041A>T (p.Ile681Phe)
c.1867A>T (p.Ile623Phe)
c.1843A>T (p.Ile615Phe)
c.976A>T (p.Ile326Phe)
c.889A>T (p.Ile297Phe)
c.802A>T (p.Ile268Phe)
n.702A>T
 gnomAD v4
17g.45996621T>ACA399978386MAPTc.692T>A (p.Ile231Asn)
c.605T>A (p.Ile202Asn)
c.779T>A (p.Ile260Asn)
n.643T>A
n.11T>A
c.1955T>A (p.Ile652Asn)
c.1757T>A (p.Ile586Asn)
c.1730T>A (p.Ile577Asn)
c.1784T>A (p.Ile595Asn)
n.733T>A
n.6064T>A
c.2042T>A (p.Ile681Asn)
c.1868T>A (p.Ile623Asn)
c.1844T>A (p.Ile615Asn)
c.977T>A (p.Ile326Asn)
c.890T>A (p.Ile297Asn)
c.803T>A (p.Ile268Asn)
n.703T>A
17g.45996621T>CCA399978387MAPTc.692T>C (p.Ile231Thr)
c.605T>C (p.Ile202Thr)
c.779T>C (p.Ile260Thr)
n.643T>C
n.11T>C
c.1955T>C (p.Ile652Thr)
c.1757T>C (p.Ile586Thr)
c.1730T>C (p.Ile577Thr)
c.1784T>C (p.Ile595Thr)
n.733T>C
n.6064T>C
c.2042T>C (p.Ile681Thr)
c.1868T>C (p.Ile623Thr)
c.1844T>C (p.Ile615Thr)
c.977T>C (p.Ile326Thr)
c.890T>C (p.Ile297Thr)
c.803T>C (p.Ile268Thr)
n.703T>C
17g.45996621T>GCA399978388MAPTc.692T>G (p.Ile231Ser)
c.605T>G (p.Ile202Ser)
c.779T>G (p.Ile260Ser)
n.643T>G
n.11T>G
c.1955T>G (p.Ile652Ser)
c.1757T>G (p.Ile586Ser)
c.1730T>G (p.Ile577Ser)
c.1784T>G (p.Ile595Ser)
n.733T>G
n.6064T>G
c.2042T>G (p.Ile681Ser)
c.1868T>G (p.Ile623Ser)
c.1844T>G (p.Ile615Ser)
c.977T>G (p.Ile326Ser)
c.890T>G (p.Ile297Ser)
c.803T>G (p.Ile268Ser)
n.703T>G
17g.45996622C>ACA500644053MAPTc.693C>A (p.Ile231=)
c.606C>A (p.Ile202=)
c.780C>A (p.Ile260=)
n.644C>A
n.12C>A
c.1956C>A (p.Ile652=)
c.1758C>A (p.Ile586=)
c.1731C>A (p.Ile577=)
c.1785C>A (p.Ile595=)
n.734C>A
n.6065C>A
c.2043C>A (p.Ile681=)
c.1869C>A (p.Ile623=)
c.1845C>A (p.Ile615=)
c.978C>A (p.Ile326=)
c.891C>A (p.Ile297=)
c.804C>A (p.Ile268=)
n.704C>A
 dbSNP gnomAD v4
17g.45996622C=CA2262095037MAPTc.693C= (p.Ile231=)
c.606C= (p.Ile202=)
c.780C= (p.Ile260=)
n.644C=
n.12C=
c.1956C= (p.Ile652=)
c.1758C= (p.Ile586=)
c.1731C= (p.Ile577=)
c.1785C= (p.Ile595=)
n.734C=
n.6065C=
c.2043C= (p.Ile681=)
c.1869C= (p.Ile623=)
c.1845C= (p.Ile615=)
c.978C= (p.Ile326=)
c.891C= (p.Ile297=)
c.804C= (p.Ile268=)
n.704C=
17g.45996622C>GCA399978389MAPTc.693C>G (p.Ile231Met)
c.606C>G (p.Ile202Met)
c.780C>G (p.Ile260Met)
n.644C>G
n.12C>G
c.1956C>G (p.Ile652Met)
c.1758C>G (p.Ile586Met)
c.1731C>G (p.Ile577Met)
c.1785C>G (p.Ile595Met)
n.734C>G
n.6065C>G
c.2043C>G (p.Ile681Met)
c.1869C>G (p.Ile623Met)
c.1845C>G (p.Ile615Met)
c.978C>G (p.Ile326Met)
c.891C>G (p.Ile297Met)
c.804C>G (p.Ile268Met)
n.704C>G
 dbSNP gnomAD v4
17g.45996622C>TCA8618062MAPTc.693C>T (p.Ile231=)
c.606C>T (p.Ile202=)
c.780C>T (p.Ile260=)
n.644C>T
n.12C>T
c.1956C>T (p.Ile652=)
c.1758C>T (p.Ile586=)
c.1731C>T (p.Ile577=)
c.1785C>T (p.Ile595=)
n.734C>T
n.6065C>T
c.2043C>T (p.Ile681=)
c.1869C>T (p.Ile623=)
c.1845C>T (p.Ile615=)
c.978C>T (p.Ile326=)
c.891C>T (p.Ile297=)
c.804C>T (p.Ile268=)
n.704C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996623G>ACA399978390MAPTc.694G>A (p.Gly232Ser)
c.607G>A (p.Gly203Ser)
c.781G>A (p.Gly261Ser)
n.645G>A
n.13G>A
c.1957G>A (p.Gly653Ser)
c.1759G>A (p.Gly587Ser)
c.1732G>A (p.Gly578Ser)
c.1786G>A (p.Gly596Ser)
n.735G>A
n.6066G>A
c.2044G>A (p.Gly682Ser)
c.1870G>A (p.Gly624Ser)
c.1846G>A (p.Gly616Ser)
c.979G>A (p.Gly327Ser)
c.892G>A (p.Gly298Ser)
c.805G>A (p.Gly269Ser)
n.705G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.45996623G>CCA399978391MAPTc.694G>C (p.Gly232Arg)
c.607G>C (p.Gly203Arg)
c.781G>C (p.Gly261Arg)
n.645G>C
n.13G>C
c.1957G>C (p.Gly653Arg)
c.1759G>C (p.Gly587Arg)
c.1732G>C (p.Gly578Arg)
c.1786G>C (p.Gly596Arg)
n.735G>C
n.6066G>C
c.2044G>C (p.Gly682Arg)
c.1870G>C (p.Gly624Arg)
c.1846G>C (p.Gly616Arg)
c.979G>C (p.Gly327Arg)
c.892G>C (p.Gly298Arg)
c.805G>C (p.Gly269Arg)
n.705G>C
17g.45996623G=CA2262095038MAPTc.694G= (p.Gly232=)
c.607G= (p.Gly203=)
c.781G= (p.Gly261=)
n.645G=
n.13G=
c.1957G= (p.Gly653=)
c.1759G= (p.Gly587=)
c.1732G= (p.Gly578=)
c.1786G= (p.Gly596=)
n.735G=
n.6066G=
c.2044G= (p.Gly682=)
c.1870G= (p.Gly624=)
c.1846G= (p.Gly616=)
c.979G= (p.Gly327=)
c.892G= (p.Gly298=)
c.805G= (p.Gly269=)
n.705G=
17g.45996623G>TCA399978392MAPTc.694G>T (p.Gly232Cys)
c.607G>T (p.Gly203Cys)
c.781G>T (p.Gly261Cys)
n.645G>T
n.13G>T
c.1957G>T (p.Gly653Cys)
c.1759G>T (p.Gly587Cys)
c.1732G>T (p.Gly578Cys)
c.1786G>T (p.Gly596Cys)
n.735G>T
n.6066G>T
c.2044G>T (p.Gly682Cys)
c.1870G>T (p.Gly624Cys)
c.1846G>T (p.Gly616Cys)
c.979G>T (p.Gly327Cys)
c.892G>T (p.Gly298Cys)
c.805G>T (p.Gly269Cys)
n.705G>T
 gnomAD v4
17g.45996624dupCA291107189MAPTc.695dup (p.Ser233LeufsTer3)
c.608dup (p.Ser204LeufsTer3)
c.782dup (p.Ser262LeufsTer3)
n.646dup
n.14dup
c.1958dup (p.Ser654LeufsTer3)
c.1760dup (p.Ser588LeufsTer3)
c.1733dup (p.Ser579LeufsTer3)
c.1787dup (p.Ser597LeufsTer3)
n.736dup
n.6067dup
c.2045dup (p.Ser683LeufsTer3)
c.1871dup (p.Ser625LeufsTer3)
c.1847dup (p.Ser617LeufsTer3)
c.980dup (p.Ser328LeufsTer3)
c.893dup (p.Ser299LeufsTer3)
c.806dup (p.Ser270LeufsTer3)
n.706dup
 dbSNP
17g.45996624G>ACA399978393MAPTc.695G>A (p.Gly232Asp)
c.608G>A (p.Gly203Asp)
c.782G>A (p.Gly261Asp)
n.646G>A
n.14G>A
c.1958G>A (p.Gly653Asp)
c.1760G>A (p.Gly587Asp)
c.1733G>A (p.Gly578Asp)
c.1787G>A (p.Gly596Asp)
n.736G>A
n.6067G>A
c.2045G>A (p.Gly682Asp)
c.1871G>A (p.Gly624Asp)
c.1847G>A (p.Gly616Asp)
c.980G>A (p.Gly327Asp)
c.893G>A (p.Gly298Asp)
c.806G>A (p.Gly269Asp)
n.706G>A
 dbSNP gnomAD v2 gnomAD v4
17g.45996624G>CCA399978394MAPTc.695G>C (p.Gly232Ala)
c.608G>C (p.Gly203Ala)
c.782G>C (p.Gly261Ala)
n.646G>C
n.14G>C
c.1958G>C (p.Gly653Ala)
c.1760G>C (p.Gly587Ala)
c.1733G>C (p.Gly578Ala)
c.1787G>C (p.Gly596Ala)
n.736G>C
n.6067G>C
c.2045G>C (p.Gly682Ala)
c.1871G>C (p.Gly624Ala)
c.1847G>C (p.Gly616Ala)
c.980G>C (p.Gly327Ala)
c.893G>C (p.Gly298Ala)
c.806G>C (p.Gly269Ala)
n.706G>C
17g.45996624G=CA2262095039MAPTc.695G= (p.Gly232=)
c.608G= (p.Gly203=)
c.782G= (p.Gly261=)
n.646G=
n.14G=
c.1958G= (p.Gly653=)
c.1760G= (p.Gly587=)
c.1733G= (p.Gly578=)
c.1787G= (p.Gly596=)
n.736G=
n.6067G=
c.2045G= (p.Gly682=)
c.1871G= (p.Gly624=)
c.1847G= (p.Gly616=)
c.980G= (p.Gly327=)
c.893G= (p.Gly298=)
c.806G= (p.Gly269=)
n.706G=
17g.45996624G>TCA399978395MAPTc.695G>T (p.Gly232Val)
c.608G>T (p.Gly203Val)
c.782G>T (p.Gly261Val)
n.646G>T
n.14G>T
c.1958G>T (p.Gly653Val)
c.1760G>T (p.Gly587Val)
c.1733G>T (p.Gly578Val)
c.1787G>T (p.Gly596Val)
n.736G>T
n.6067G>T
c.2045G>T (p.Gly682Val)
c.1871G>T (p.Gly624Val)
c.1847G>T (p.Gly616Val)
c.980G>T (p.Gly327Val)
c.893G>T (p.Gly298Val)
c.806G>T (p.Gly269Val)
n.706G>T
17g.45996625C>ACA500644055MAPTc.696C>A (p.Gly232=)
c.609C>A (p.Gly203=)
c.783C>A (p.Gly261=)
n.647C>A
n.15C>A
c.1959C>A (p.Gly653=)
c.1761C>A (p.Gly587=)
c.1734C>A (p.Gly578=)
c.1788C>A (p.Gly596=)
n.737C>A
n.6068C>A
c.2046C>A (p.Gly682=)
c.1872C>A (p.Gly624=)
c.1848C>A (p.Gly616=)
c.981C>A (p.Gly327=)
c.894C>A (p.Gly298=)
c.807C>A (p.Gly269=)
n.707C>A
17g.45996625C>GCA500644056MAPTc.696C>G (p.Gly232=)
c.609C>G (p.Gly203=)
c.783C>G (p.Gly261=)
n.647C>G
n.15C>G
c.1959C>G (p.Gly653=)
c.1761C>G (p.Gly587=)
c.1734C>G (p.Gly578=)
c.1788C>G (p.Gly596=)
n.737C>G
n.6068C>G
c.2046C>G (p.Gly682=)
c.1872C>G (p.Gly624=)
c.1848C>G (p.Gly616=)
c.981C>G (p.Gly327=)
c.894C>G (p.Gly298=)
c.807C>G (p.Gly269=)
n.707C>G
17g.45996625C>TCA500644054MAPTc.696C>T (p.Gly232=)
c.609C>T (p.Gly203=)
c.783C>T (p.Gly261=)
n.647C>T
n.15C>T
c.1959C>T (p.Gly653=)
c.1761C>T (p.Gly587=)
c.1734C>T (p.Gly578=)
c.1788C>T (p.Gly596=)
n.737C>T
n.6068C>T
c.2046C>T (p.Gly682=)
c.1872C>T (p.Gly624=)
c.1848C>T (p.Gly616=)
c.981C>T (p.Gly327=)
c.894C>T (p.Gly298=)
c.807C>T (p.Gly269=)
n.707C>T
17g.45996626T>ACA399978396MAPTc.697T>A (p.Ser233Thr)
c.610T>A (p.Ser204Thr)
c.784T>A (p.Ser262Thr)
n.648T>A
n.16T>A
c.1960T>A (p.Ser654Thr)
c.1762T>A (p.Ser588Thr)
c.1735T>A (p.Ser579Thr)
c.1789T>A (p.Ser597Thr)
n.738T>A
n.6069T>A
c.2047T>A (p.Ser683Thr)
c.1873T>A (p.Ser625Thr)
c.1849T>A (p.Ser617Thr)
c.982T>A (p.Ser328Thr)
c.895T>A (p.Ser299Thr)
c.808T>A (p.Ser270Thr)
n.708T>A
17g.45996626T>CCA399978398MAPTc.697T>C (p.Ser233Pro)
c.610T>C (p.Ser204Pro)
c.784T>C (p.Ser262Pro)
n.648T>C
n.16T>C
c.1960T>C (p.Ser654Pro)
c.1762T>C (p.Ser588Pro)
c.1735T>C (p.Ser579Pro)
c.1789T>C (p.Ser597Pro)
n.738T>C
n.6069T>C
c.2047T>C (p.Ser683Pro)
c.1873T>C (p.Ser625Pro)
c.1849T>C (p.Ser617Pro)
c.982T>C (p.Ser328Pro)
c.895T>C (p.Ser299Pro)
c.808T>C (p.Ser270Pro)
n.708T>C
 gnomAD v4
17g.45996626T>GCA399978397MAPTc.697T>G (p.Ser233Ala)
c.610T>G (p.Ser204Ala)
c.784T>G (p.Ser262Ala)
n.648T>G
n.16T>G
c.1960T>G (p.Ser654Ala)
c.1762T>G (p.Ser588Ala)
c.1735T>G (p.Ser579Ala)
c.1789T>G (p.Ser597Ala)
n.738T>G
n.6069T>G
c.2047T>G (p.Ser683Ala)
c.1873T>G (p.Ser625Ala)
c.1849T>G (p.Ser617Ala)
c.982T>G (p.Ser328Ala)
c.895T>G (p.Ser299Ala)
c.808T>G (p.Ser270Ala)
n.708T>G
17g.45996627C>ACA399978399MAPTc.698C>A (p.Ser233Tyr)
c.611C>A (p.Ser204Tyr)
c.785C>A (p.Ser262Tyr)
n.649C>A
n.17C>A
c.1961C>A (p.Ser654Tyr)
c.1763C>A (p.Ser588Tyr)
c.1736C>A (p.Ser579Tyr)
c.1790C>A (p.Ser597Tyr)
n.739C>A
n.6070C>A
c.2048C>A (p.Ser683Tyr)
c.1874C>A (p.Ser625Tyr)
c.1850C>A (p.Ser617Tyr)
c.983C>A (p.Ser328Tyr)
c.896C>A (p.Ser299Tyr)
c.809C>A (p.Ser270Tyr)
n.709C>A
17g.45996627C>GCA399978400MAPTc.698C>G (p.Ser233Cys)
c.611C>G (p.Ser204Cys)
c.785C>G (p.Ser262Cys)
n.649C>G
n.17C>G
c.1961C>G (p.Ser654Cys)
c.1763C>G (p.Ser588Cys)
c.1736C>G (p.Ser579Cys)
c.1790C>G (p.Ser597Cys)
n.739C>G
n.6070C>G
c.2048C>G (p.Ser683Cys)
c.1874C>G (p.Ser625Cys)
c.1850C>G (p.Ser617Cys)
c.983C>G (p.Ser328Cys)
c.896C>G (p.Ser299Cys)
c.809C>G (p.Ser270Cys)
n.709C>G
17g.45996627C>TCA399978401MAPTc.698C>T (p.Ser233Phe)
c.611C>T (p.Ser204Phe)
c.785C>T (p.Ser262Phe)
n.649C>T
n.17C>T
c.1961C>T (p.Ser654Phe)
c.1763C>T (p.Ser588Phe)
c.1736C>T (p.Ser579Phe)
c.1790C>T (p.Ser597Phe)
n.739C>T
n.6070C>T
c.2048C>T (p.Ser683Phe)
c.1874C>T (p.Ser625Phe)
c.1850C>T (p.Ser617Phe)
c.983C>T (p.Ser328Phe)
c.896C>T (p.Ser299Phe)
c.809C>T (p.Ser270Phe)
n.709C>T
17g.45996628C>ACA500644059MAPTc.699C>A (p.Ser233=)
c.612C>A (p.Ser204=)
c.786C>A (p.Ser262=)
n.650C>A
n.18C>A
c.1962C>A (p.Ser654=)
c.1764C>A (p.Ser588=)
c.1737C>A (p.Ser579=)
c.1791C>A (p.Ser597=)
n.740C>A
n.6071C>A
c.2049C>A (p.Ser683=)
c.1875C>A (p.Ser625=)
c.1851C>A (p.Ser617=)
c.984C>A (p.Ser328=)
c.897C>A (p.Ser299=)
c.810C>A (p.Ser270=)
n.710C>A
17g.45996628C>GCA500644057MAPTc.699C>G (p.Ser233=)
c.612C>G (p.Ser204=)
c.786C>G (p.Ser262=)
n.650C>G
n.18C>G
c.1962C>G (p.Ser654=)
c.1764C>G (p.Ser588=)
c.1737C>G (p.Ser579=)
c.1791C>G (p.Ser597=)
n.740C>G
n.6071C>G
c.2049C>G (p.Ser683=)
c.1875C>G (p.Ser625=)
c.1851C>G (p.Ser617=)
c.984C>G (p.Ser328=)
c.897C>G (p.Ser299=)
c.810C>G (p.Ser270=)
n.710C>G
17g.45996628C>TCA500644058MAPTc.699C>T (p.Ser233=)
c.612C>T (p.Ser204=)
c.786C>T (p.Ser262=)
n.650C>T
n.18C>T
c.1962C>T (p.Ser654=)
c.1764C>T (p.Ser588=)
c.1737C>T (p.Ser579=)
c.1791C>T (p.Ser597=)
n.740C>T
n.6071C>T
c.2049C>T (p.Ser683=)
c.1875C>T (p.Ser625=)
c.1851C>T (p.Ser617=)
c.984C>T (p.Ser328=)
c.897C>T (p.Ser299=)
c.810C>T (p.Ser270=)
n.710C>T
17g.45996629A>CCA399978402MAPTc.700A>C (p.Thr234Pro)
c.613A>C (p.Thr205Pro)
c.787A>C (p.Thr263Pro)
n.651A>C
n.19A>C
c.1963A>C (p.Thr655Pro)
c.1765A>C (p.Thr589Pro)
c.1738A>C (p.Thr580Pro)
c.1792A>C (p.Thr598Pro)
n.741A>C
n.6072A>C
c.2050A>C (p.Thr684Pro)
c.1876A>C (p.Thr626Pro)
c.1852A>C (p.Thr618Pro)
c.985A>C (p.Thr329Pro)
c.898A>C (p.Thr300Pro)
c.811A>C (p.Thr271Pro)
n.711A>C
17g.45996629A>GCA399978403MAPTc.700A>G (p.Thr234Ala)
c.613A>G (p.Thr205Ala)
c.787A>G (p.Thr263Ala)
n.651A>G
n.19A>G
c.1963A>G (p.Thr655Ala)
c.1765A>G (p.Thr589Ala)
c.1738A>G (p.Thr580Ala)
c.1792A>G (p.Thr598Ala)
n.741A>G
n.6072A>G
c.2050A>G (p.Thr684Ala)
c.1876A>G (p.Thr626Ala)
c.1852A>G (p.Thr618Ala)
c.985A>G (p.Thr329Ala)
c.898A>G (p.Thr300Ala)
c.811A>G (p.Thr271Ala)
n.711A>G
 gnomAD v4
17g.45996629A>TCA399978404MAPTc.700A>T (p.Thr234Ser)
c.613A>T (p.Thr205Ser)
c.787A>T (p.Thr263Ser)
n.651A>T
n.19A>T
c.1963A>T (p.Thr655Ser)
c.1765A>T (p.Thr589Ser)
c.1738A>T (p.Thr580Ser)
c.1792A>T (p.Thr598Ser)
n.741A>T
n.6072A>T
c.2050A>T (p.Thr684Ser)
c.1876A>T (p.Thr626Ser)
c.1852A>T (p.Thr618Ser)
c.985A>T (p.Thr329Ser)
c.898A>T (p.Thr300Ser)
c.811A>T (p.Thr271Ser)
n.711A>T
17g.45996630C>ACA399978405MAPTc.701C>A (p.Thr234Asn)
c.614C>A (p.Thr205Asn)
c.788C>A (p.Thr263Asn)
n.652C>A
n.20C>A
c.1964C>A (p.Thr655Asn)
c.1766C>A (p.Thr589Asn)
c.1739C>A (p.Thr580Asn)
c.1793C>A (p.Thr598Asn)
n.742C>A
n.6073C>A
c.2051C>A (p.Thr684Asn)
c.1877C>A (p.Thr626Asn)
c.1853C>A (p.Thr618Asn)
c.986C>A (p.Thr329Asn)
c.899C>A (p.Thr300Asn)
c.812C>A (p.Thr271Asn)
n.712C>A
 COSMIC COSMIC
17g.45996630C>GCA399978406MAPTc.701C>G (p.Thr234Ser)
c.614C>G (p.Thr205Ser)
c.788C>G (p.Thr263Ser)
n.652C>G
n.20C>G
c.1964C>G (p.Thr655Ser)
c.1766C>G (p.Thr589Ser)
c.1739C>G (p.Thr580Ser)
c.1793C>G (p.Thr598Ser)
n.742C>G
n.6073C>G
c.2051C>G (p.Thr684Ser)
c.1877C>G (p.Thr626Ser)
c.1853C>G (p.Thr618Ser)
c.986C>G (p.Thr329Ser)
c.899C>G (p.Thr300Ser)
c.812C>G (p.Thr271Ser)
n.712C>G
17g.45996630C>TCA399978407MAPTc.701C>T (p.Thr234Ile)
c.614C>T (p.Thr205Ile)
c.788C>T (p.Thr263Ile)
n.652C>T
n.20C>T
c.1964C>T (p.Thr655Ile)
c.1766C>T (p.Thr589Ile)
c.1739C>T (p.Thr580Ile)
c.1793C>T (p.Thr598Ile)
n.742C>T
n.6073C>T
c.2051C>T (p.Thr684Ile)
c.1877C>T (p.Thr626Ile)
c.1853C>T (p.Thr618Ile)
c.986C>T (p.Thr329Ile)
c.899C>T (p.Thr300Ile)
c.812C>T (p.Thr271Ile)
n.712C>T
 gnomAD v4
17g.45996631T>ACA500644060MAPTc.702T>A (p.Thr234=)
c.615T>A (p.Thr205=)
c.789T>A (p.Thr263=)
n.653T>A
n.21T>A
c.1965T>A (p.Thr655=)
c.1767T>A (p.Thr589=)
c.1740T>A (p.Thr580=)
c.1794T>A (p.Thr598=)
n.743T>A
n.6074T>A
c.2052T>A (p.Thr684=)
c.1878T>A (p.Thr626=)
c.1854T>A (p.Thr618=)
c.987T>A (p.Thr329=)
c.900T>A (p.Thr300=)
c.813T>A (p.Thr271=)
n.713T>A
17g.45996631T>CCA500644062MAPTc.702T>C (p.Thr234=)
c.615T>C (p.Thr205=)
c.789T>C (p.Thr263=)
n.653T>C
n.21T>C
c.1965T>C (p.Thr655=)
c.1767T>C (p.Thr589=)
c.1740T>C (p.Thr580=)
c.1794T>C (p.Thr598=)
n.743T>C
n.6074T>C
c.2052T>C (p.Thr684=)
c.1878T>C (p.Thr626=)
c.1854T>C (p.Thr618=)
c.987T>C (p.Thr329=)
c.900T>C (p.Thr300=)
c.813T>C (p.Thr271=)
n.713T>C
17g.45996631T>GCA500644061MAPTc.702T>G (p.Thr234=)
c.615T>G (p.Thr205=)
c.789T>G (p.Thr263=)
n.653T>G
n.21T>G
c.1965T>G (p.Thr655=)
c.1767T>G (p.Thr589=)
c.1740T>G (p.Thr580=)
c.1794T>G (p.Thr598=)
n.743T>G
n.6074T>G
c.2052T>G (p.Thr684=)
c.1878T>G (p.Thr626=)
c.1854T>G (p.Thr618=)
c.987T>G (p.Thr329=)
c.900T>G (p.Thr300=)
c.813T>G (p.Thr271=)
n.713T>G
17g.45996632G>ACA399978408MAPTc.703G>A (p.Glu235Lys)
c.616G>A (p.Glu206Lys)
c.790G>A (p.Glu264Lys)
n.654G>A
n.22G>A
c.1966G>A (p.Glu656Lys)
c.1768G>A (p.Glu590Lys)
c.1741G>A (p.Glu581Lys)
c.1795G>A (p.Glu599Lys)
n.744G>A
n.6075G>A
c.2053G>A (p.Glu685Lys)
c.1879G>A (p.Glu627Lys)
c.1855G>A (p.Glu619Lys)
c.988G>A (p.Glu330Lys)
c.901G>A (p.Glu301Lys)
c.814G>A (p.Glu272Lys)
n.714G>A
17g.45996632G>CCA399978409MAPTc.703G>C (p.Glu235Gln)
c.616G>C (p.Glu206Gln)
c.790G>C (p.Glu264Gln)
n.654G>C
n.22G>C
c.1966G>C (p.Glu656Gln)
c.1768G>C (p.Glu590Gln)
c.1741G>C (p.Glu581Gln)
c.1795G>C (p.Glu599Gln)
n.744G>C
n.6075G>C
c.2053G>C (p.Glu685Gln)
c.1879G>C (p.Glu627Gln)
c.1855G>C (p.Glu619Gln)
c.988G>C (p.Glu330Gln)
c.901G>C (p.Glu301Gln)
c.814G>C (p.Glu272Gln)
n.714G>C
17g.45996632G>TCA399978410MAPTc.703G>T (p.Glu235Ter)
c.616G>T (p.Glu206Ter)
c.790G>T (p.Glu264Ter)
n.654G>T
n.22G>T
c.1966G>T (p.Glu656Ter)
c.1768G>T (p.Glu590Ter)
c.1741G>T (p.Glu581Ter)
c.1795G>T (p.Glu599Ter)
n.744G>T
n.6075G>T
c.2053G>T (p.Glu685Ter)
c.1879G>T (p.Glu627Ter)
c.1855G>T (p.Glu619Ter)
c.988G>T (p.Glu330Ter)
c.901G>T (p.Glu301Ter)
c.814G>T (p.Glu272Ter)
n.714G>T
17g.45996633A>CCA399978413MAPTc.704A>C (p.Glu235Ala)
c.617A>C (p.Glu206Ala)
c.791A>C (p.Glu264Ala)
n.655A>C
n.23A>C
c.1967A>C (p.Glu656Ala)
c.1769A>C (p.Glu590Ala)
c.1742A>C (p.Glu581Ala)
c.1796A>C (p.Glu599Ala)
n.745A>C
n.6076A>C
c.2054A>C (p.Glu685Ala)
c.1880A>C (p.Glu627Ala)
c.1856A>C (p.Glu619Ala)
c.989A>C (p.Glu330Ala)
c.902A>C (p.Glu301Ala)
c.815A>C (p.Glu272Ala)
n.715A>C
17g.45996633A>GCA399978411MAPTc.704A>G (p.Glu235Gly)
c.617A>G (p.Glu206Gly)
c.791A>G (p.Glu264Gly)
n.655A>G
n.23A>G
c.1967A>G (p.Glu656Gly)
c.1769A>G (p.Glu590Gly)
c.1742A>G (p.Glu581Gly)
c.1796A>G (p.Glu599Gly)
n.745A>G
n.6076A>G
c.2054A>G (p.Glu685Gly)
c.1880A>G (p.Glu627Gly)
c.1856A>G (p.Glu619Gly)
c.989A>G (p.Glu330Gly)
c.902A>G (p.Glu301Gly)
c.815A>G (p.Glu272Gly)
n.715A>G
17g.45996633A>TCA399978412MAPTc.704A>T (p.Glu235Val)
c.617A>T (p.Glu206Val)
c.791A>T (p.Glu264Val)
n.655A>T
n.23A>T
c.1967A>T (p.Glu656Val)
c.1769A>T (p.Glu590Val)
c.1742A>T (p.Glu581Val)
c.1796A>T (p.Glu599Val)
n.745A>T
n.6076A>T
c.2054A>T (p.Glu685Val)
c.1880A>T (p.Glu627Val)
c.1856A>T (p.Glu619Val)
c.989A>T (p.Glu330Val)
c.902A>T (p.Glu301Val)
c.815A>T (p.Glu272Val)
n.715A>T
17g.45996634G>ACA500644063MAPTc.705G>A (p.Glu235=)
c.618G>A (p.Glu206=)
c.792G>A (p.Glu264=)
n.656G>A
n.24G>A
c.1968G>A (p.Glu656=)
c.1770G>A (p.Glu590=)
c.1743G>A (p.Glu581=)
c.1797G>A (p.Glu599=)
n.746G>A
n.6077G>A
c.2055G>A (p.Glu685=)
c.1881G>A (p.Glu627=)
c.1857G>A (p.Glu619=)
c.990G>A (p.Glu330=)
c.903G>A (p.Glu301=)
c.816G>A (p.Glu272=)
n.716G>A
17g.45996634G>CCA399978414MAPTc.705G>C (p.Glu235Asp)
c.618G>C (p.Glu206Asp)
c.792G>C (p.Glu264Asp)
n.656G>C
n.24G>C
c.1968G>C (p.Glu656Asp)
c.1770G>C (p.Glu590Asp)
c.1743G>C (p.Glu581Asp)
c.1797G>C (p.Glu599Asp)
n.746G>C
n.6077G>C
c.2055G>C (p.Glu685Asp)
c.1881G>C (p.Glu627Asp)
c.1857G>C (p.Glu619Asp)
c.990G>C (p.Glu330Asp)
c.903G>C (p.Glu301Asp)
c.816G>C (p.Glu272Asp)
n.716G>C
 gnomAD v4
17g.45996634G>TCA399978415MAPTc.705G>T (p.Glu235Asp)
c.618G>T (p.Glu206Asp)
c.792G>T (p.Glu264Asp)
n.656G>T
n.24G>T
c.1968G>T (p.Glu656Asp)
c.1770G>T (p.Glu590Asp)
c.1743G>T (p.Glu581Asp)
c.1797G>T (p.Glu599Asp)
n.746G>T
n.6077G>T
c.2055G>T (p.Glu685Asp)
c.1881G>T (p.Glu627Asp)
c.1857G>T (p.Glu619Asp)
c.990G>T (p.Glu330Asp)
c.903G>T (p.Glu301Asp)
c.816G>T (p.Glu272Asp)
n.716G>T
17g.45996635A>CCA399978416MAPTc.706A>C (p.Asn236His)
c.619A>C (p.Asn207His)
c.793A>C (p.Asn265His)
n.657A>C
n.25A>C
c.1969A>C (p.Asn657His)
c.1771A>C (p.Asn591His)
c.1744A>C (p.Asn582His)
c.1798A>C (p.Asn600His)
n.747A>C
n.6078A>C
c.2056A>C (p.Asn686His)
c.1882A>C (p.Asn628His)
c.1858A>C (p.Asn620His)
c.991A>C (p.Asn331His)
c.904A>C (p.Asn302His)
c.817A>C (p.Asn273His)
n.717A>C
17g.45996635A>GCA399978417MAPTc.706A>G (p.Asn236Asp)
c.619A>G (p.Asn207Asp)
c.793A>G (p.Asn265Asp)
n.657A>G
n.25A>G
c.1969A>G (p.Asn657Asp)
c.1771A>G (p.Asn591Asp)
c.1744A>G (p.Asn582Asp)
c.1798A>G (p.Asn600Asp)
n.747A>G
n.6078A>G
c.2056A>G (p.Asn686Asp)
c.1882A>G (p.Asn628Asp)
c.1858A>G (p.Asn620Asp)
c.991A>G (p.Asn331Asp)
c.904A>G (p.Asn302Asp)
c.817A>G (p.Asn273Asp)
n.717A>G
17g.45996635A>TCA399978418MAPTc.706A>T (p.Asn236Tyr)
c.619A>T (p.Asn207Tyr)
c.793A>T (p.Asn265Tyr)
n.657A>T
n.25A>T
c.1969A>T (p.Asn657Tyr)
c.1771A>T (p.Asn591Tyr)
c.1744A>T (p.Asn582Tyr)
c.1798A>T (p.Asn600Tyr)
n.747A>T
n.6078A>T
c.2056A>T (p.Asn686Tyr)
c.1882A>T (p.Asn628Tyr)
c.1858A>T (p.Asn620Tyr)
c.991A>T (p.Asn331Tyr)
c.904A>T (p.Asn302Tyr)
c.817A>T (p.Asn273Tyr)
n.717A>T
17g.45996636A>CCA399978419MAPTc.707A>C (p.Asn236Thr)
c.620A>C (p.Asn207Thr)
c.794A>C (p.Asn265Thr)
n.658A>C
n.26A>C
c.1970A>C (p.Asn657Thr)
c.1772A>C (p.Asn591Thr)
c.1745A>C (p.Asn582Thr)
c.1799A>C (p.Asn600Thr)
n.748A>C
n.6079A>C
c.2057A>C (p.Asn686Thr)
c.1883A>C (p.Asn628Thr)
c.1859A>C (p.Asn620Thr)
c.992A>C (p.Asn331Thr)
c.905A>C (p.Asn302Thr)
c.818A>C (p.Asn273Thr)
n.718A>C
17g.45996636A>GCA399978420MAPTc.707A>G (p.Asn236Ser)
c.620A>G (p.Asn207Ser)
c.794A>G (p.Asn265Ser)
n.658A>G
n.26A>G
c.1970A>G (p.Asn657Ser)
c.1772A>G (p.Asn591Ser)
c.1745A>G (p.Asn582Ser)
c.1799A>G (p.Asn600Ser)
n.748A>G
n.6079A>G
c.2057A>G (p.Asn686Ser)
c.1883A>G (p.Asn628Ser)
c.1859A>G (p.Asn620Ser)
c.992A>G (p.Asn331Ser)
c.905A>G (p.Asn302Ser)
c.818A>G (p.Asn273Ser)
n.718A>G
17g.45996636A>TCA399978421MAPTc.707A>T (p.Asn236Ile)
c.620A>T (p.Asn207Ile)
c.794A>T (p.Asn265Ile)
n.658A>T
n.26A>T
c.1970A>T (p.Asn657Ile)
c.1772A>T (p.Asn591Ile)
c.1745A>T (p.Asn582Ile)
c.1799A>T (p.Asn600Ile)
n.748A>T
n.6079A>T
c.2057A>T (p.Asn686Ile)
c.1883A>T (p.Asn628Ile)
c.1859A>T (p.Asn620Ile)
c.992A>T (p.Asn331Ile)
c.905A>T (p.Asn302Ile)
c.818A>T (p.Asn273Ile)
n.718A>T
17g.45996637C>ACA399978422MAPTc.708C>A (p.Asn236Lys)
c.621C>A (p.Asn207Lys)
c.795C>A (p.Asn265Lys)
n.659C>A
n.27C>A
c.1971C>A (p.Asn657Lys)
c.1773C>A (p.Asn591Lys)
c.1746C>A (p.Asn582Lys)
c.1800C>A (p.Asn600Lys)
n.749C>A
n.6080C>A
c.2058C>A (p.Asn686Lys)
c.1884C>A (p.Asn628Lys)
c.1860C>A (p.Asn620Lys)
c.993C>A (p.Asn331Lys)
c.906C>A (p.Asn302Lys)
c.819C>A (p.Asn273Lys)
n.719C>A
17g.45996637C=CA2262095040MAPTc.708C= (p.Asn236=)
c.621C= (p.Asn207=)
c.795C= (p.Asn265=)
n.659C=
n.27C=
c.1971C= (p.Asn657=)
c.1773C= (p.Asn591=)
c.1746C= (p.Asn582=)
c.1800C= (p.Asn600=)
n.749C=
n.6080C=
c.2058C= (p.Asn686=)
c.1884C= (p.Asn628=)
c.1860C= (p.Asn620=)
c.993C= (p.Asn331=)
c.906C= (p.Asn302=)
c.819C= (p.Asn273=)
n.719C=
17g.45996637C>GCA399978423MAPTc.708C>G (p.Asn236Lys)
c.621C>G (p.Asn207Lys)
c.795C>G (p.Asn265Lys)
n.659C>G
n.27C>G
c.1971C>G (p.Asn657Lys)
c.1773C>G (p.Asn591Lys)
c.1746C>G (p.Asn582Lys)
c.1800C>G (p.Asn600Lys)
n.749C>G
n.6080C>G
c.2058C>G (p.Asn686Lys)
c.1884C>G (p.Asn628Lys)
c.1860C>G (p.Asn620Lys)
c.993C>G (p.Asn331Lys)
c.906C>G (p.Asn302Lys)
c.819C>G (p.Asn273Lys)
n.719C>G
 gnomAD v4
17g.45996637C>TCA8618063MAPTc.708C>T (p.Asn236=)
c.621C>T (p.Asn207=)
c.795C>T (p.Asn265=)
n.659C>T
n.27C>T
c.1971C>T (p.Asn657=)
c.1773C>T (p.Asn591=)
c.1746C>T (p.Asn582=)
c.1800C>T (p.Asn600=)
n.749C>T
n.6080C>T
c.2058C>T (p.Asn686=)
c.1884C>T (p.Asn628=)
c.1860C>T (p.Asn620=)
c.993C>T (p.Asn331=)
c.906C>T (p.Asn302=)
c.819C>T (p.Asn273=)
n.719C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996638C>ACA399978424MAPTc.709C>A (p.Leu237Met)
c.622C>A (p.Leu208Met)
c.796C>A (p.Leu266Met)
n.660C>A
n.28C>A
c.1972C>A (p.Leu658Met)
c.1774C>A (p.Leu592Met)
c.1747C>A (p.Leu583Met)
c.1801C>A (p.Leu601Met)
n.750C>A
n.6081C>A
c.2059C>A (p.Leu687Met)
c.1885C>A (p.Leu629Met)
c.1861C>A (p.Leu621Met)
c.994C>A (p.Leu332Met)
c.907C>A (p.Leu303Met)
c.820C>A (p.Leu274Met)
n.720C>A
17g.45996638C=CA2262095041MAPTc.709C= (p.Leu237=)
c.622C= (p.Leu208=)
c.796C= (p.Leu266=)
n.660C=
n.28C=
c.1972C= (p.Leu658=)
c.1774C= (p.Leu592=)
c.1747C= (p.Leu583=)
c.1801C= (p.Leu601=)
n.750C=
n.6081C=
c.2059C= (p.Leu687=)
c.1885C= (p.Leu629=)
c.1861C= (p.Leu621=)
c.994C= (p.Leu332=)
c.907C= (p.Leu303=)
c.820C= (p.Leu274=)
n.720C=
17g.45996638C>GCA225417MAPTc.709C>G (p.Leu237Val)
c.622C>G (p.Leu208Val)
c.796C>G (p.Leu266Val)
n.660C>G
n.28C>G
c.1972C>G (p.Leu658Val)
c.1774C>G (p.Leu592Val)
c.1747C>G (p.Leu583Val)
c.1801C>G (p.Leu601Val)
n.750C>G
n.6081C>G
c.2059C>G (p.Leu687Val)
c.1885C>G (p.Leu629Val)
c.1861C>G (p.Leu621Val)
c.994C>G (p.Leu332Val)
c.907C>G (p.Leu303Val)
c.820C>G (p.Leu274Val)
n.720C>G
 ClinVar dbSNP
17g.45996638C>TCA8618064MAPTc.709C>T (p.Leu237=)
c.622C>T (p.Leu208=)
c.796C>T (p.Leu266=)
n.660C>T
n.28C>T
c.1972C>T (p.Leu658=)
c.1774C>T (p.Leu592=)
c.1747C>T (p.Leu583=)
c.1801C>T (p.Leu601=)
n.750C>T
n.6081C>T
c.2059C>T (p.Leu687=)
c.1885C>T (p.Leu629=)
c.1861C>T (p.Leu621=)
c.994C>T (p.Leu332=)
c.907C>T (p.Leu303=)
c.820C>T (p.Leu274=)
n.720C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996639T>ACA399978425MAPTc.710T>A (p.Leu237Gln)
c.623T>A (p.Leu208Gln)
c.797T>A (p.Leu266Gln)
n.661T>A
n.29T>A
c.1973T>A (p.Leu658Gln)
c.1775T>A (p.Leu592Gln)
c.1748T>A (p.Leu583Gln)
c.1802T>A (p.Leu601Gln)
n.751T>A
n.6082T>A
c.2060T>A (p.Leu687Gln)
c.1886T>A (p.Leu629Gln)
c.1862T>A (p.Leu621Gln)
c.995T>A (p.Leu332Gln)
c.908T>A (p.Leu303Gln)
c.821T>A (p.Leu274Gln)
n.721T>A
17g.45996639T>CCA399978427MAPTc.710T>C (p.Leu237Pro)
c.623T>C (p.Leu208Pro)
c.797T>C (p.Leu266Pro)
n.661T>C
n.29T>C
c.1973T>C (p.Leu658Pro)
c.1775T>C (p.Leu592Pro)
c.1748T>C (p.Leu583Pro)
c.1802T>C (p.Leu601Pro)
n.751T>C
n.6082T>C
c.2060T>C (p.Leu687Pro)
c.1886T>C (p.Leu629Pro)
c.1862T>C (p.Leu621Pro)
c.995T>C (p.Leu332Pro)
c.908T>C (p.Leu303Pro)
c.821T>C (p.Leu274Pro)
n.721T>C
17g.45996639T>GCA399978426MAPTc.710T>G (p.Leu237Arg)
c.623T>G (p.Leu208Arg)
c.797T>G (p.Leu266Arg)
n.661T>G
n.29T>G
c.1973T>G (p.Leu658Arg)
c.1775T>G (p.Leu592Arg)
c.1748T>G (p.Leu583Arg)
c.1802T>G (p.Leu601Arg)
n.751T>G
n.6082T>G
c.2060T>G (p.Leu687Arg)
c.1886T>G (p.Leu629Arg)
c.1862T>G (p.Leu621Arg)
c.995T>G (p.Leu332Arg)
c.908T>G (p.Leu303Arg)
c.821T>G (p.Leu274Arg)
n.721T>G
17g.45996640G>ACA8618065MAPTc.711G>A (p.Leu237=)
c.624G>A (p.Leu208=)
c.798G>A (p.Leu266=)
n.662G>A
n.30G>A
c.1974G>A (p.Leu658=)
c.1776G>A (p.Leu592=)
c.1749G>A (p.Leu583=)
c.1803G>A (p.Leu601=)
n.752G>A
n.6083G>A
c.2061G>A (p.Leu687=)
c.1887G>A (p.Leu629=)
c.1863G>A (p.Leu621=)
c.996G>A (p.Leu332=)
c.909G>A (p.Leu303=)
c.822G>A (p.Leu274=)
n.722G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996640G>CCA500644065MAPTc.711G>C (p.Leu237=)
c.624G>C (p.Leu208=)
c.798G>C (p.Leu266=)
n.662G>C
n.30G>C
c.1974G>C (p.Leu658=)
c.1776G>C (p.Leu592=)
c.1749G>C (p.Leu583=)
c.1803G>C (p.Leu601=)
n.752G>C
n.6083G>C
c.2061G>C (p.Leu687=)
c.1887G>C (p.Leu629=)
c.1863G>C (p.Leu621=)
c.996G>C (p.Leu332=)
c.909G>C (p.Leu303=)
c.822G>C (p.Leu274=)
n.722G>C
17g.45996640G=CA2262095042MAPTc.711G= (p.Leu237=)
c.624G= (p.Leu208=)
c.798G= (p.Leu266=)
n.662G=
n.30G=
c.1974G= (p.Leu658=)
c.1776G= (p.Leu592=)
c.1749G= (p.Leu583=)
c.1803G= (p.Leu601=)
n.752G=
n.6083G=
c.2061G= (p.Leu687=)
c.1887G= (p.Leu629=)
c.1863G= (p.Leu621=)
c.996G= (p.Leu332=)
c.909G= (p.Leu303=)
c.822G= (p.Leu274=)
n.722G=
17g.45996640G>TCA500644064MAPTc.711G>T (p.Leu237=)
c.624G>T (p.Leu208=)
c.798G>T (p.Leu266=)
n.662G>T
n.30G>T
c.1974G>T (p.Leu658=)
c.1776G>T (p.Leu592=)
c.1749G>T (p.Leu583=)
c.1803G>T (p.Leu601=)
n.752G>T
n.6083G>T
c.2061G>T (p.Leu687=)
c.1887G>T (p.Leu629=)
c.1863G>T (p.Leu621=)
c.996G>T (p.Leu332=)
c.909G>T (p.Leu303=)
c.822G>T (p.Leu274=)
n.722G>T
17g.45996641A>CCA399978428MAPTc.712A>C (p.Lys238Gln)
c.625A>C (p.Lys209Gln)
c.799A>C (p.Lys267Gln)
n.663A>C
n.31A>C
c.1975A>C (p.Lys659Gln)
c.1777A>C (p.Lys593Gln)
c.1750A>C (p.Lys584Gln)
c.1804A>C (p.Lys602Gln)
n.753A>C
n.6084A>C
c.2062A>C (p.Lys688Gln)
c.1888A>C (p.Lys630Gln)
c.1864A>C (p.Lys622Gln)
c.997A>C (p.Lys333Gln)
c.910A>C (p.Lys304Gln)
c.823A>C (p.Lys275Gln)
n.723A>C
17g.45996641A>GCA399978429MAPTc.712A>G (p.Lys238Glu)
c.625A>G (p.Lys209Glu)
c.799A>G (p.Lys267Glu)
n.663A>G
n.31A>G
c.1975A>G (p.Lys659Glu)
c.1777A>G (p.Lys593Glu)
c.1750A>G (p.Lys584Glu)
c.1804A>G (p.Lys602Glu)
n.753A>G
n.6084A>G
c.2062A>G (p.Lys688Glu)
c.1888A>G (p.Lys630Glu)
c.1864A>G (p.Lys622Glu)
c.997A>G (p.Lys333Glu)
c.910A>G (p.Lys304Glu)
c.823A>G (p.Lys275Glu)
n.723A>G
17g.45996641A>TCA399978430MAPTc.712A>T (p.Lys238Ter)
c.625A>T (p.Lys209Ter)
c.799A>T (p.Lys267Ter)
n.663A>T
n.31A>T
c.1975A>T (p.Lys659Ter)
c.1777A>T (p.Lys593Ter)
c.1750A>T (p.Lys584Ter)
c.1804A>T (p.Lys602Ter)
n.753A>T
n.6084A>T
c.2062A>T (p.Lys688Ter)
c.1888A>T (p.Lys630Ter)
c.1864A>T (p.Lys622Ter)
c.997A>T (p.Lys333Ter)
c.910A>T (p.Lys304Ter)
c.823A>T (p.Lys275Ter)
n.723A>T
17g.45996642A>CCA399978431MAPTc.713A>C (p.Lys238Thr)
c.626A>C (p.Lys209Thr)
c.800A>C (p.Lys267Thr)
n.664A>C
n.32A>C
c.1976A>C (p.Lys659Thr)
c.1778A>C (p.Lys593Thr)
c.1751A>C (p.Lys584Thr)
c.1805A>C (p.Lys602Thr)
n.754A>C
n.6085A>C
c.2063A>C (p.Lys688Thr)
c.1889A>C (p.Lys630Thr)
c.1865A>C (p.Lys622Thr)
c.998A>C (p.Lys333Thr)
c.911A>C (p.Lys304Thr)
c.824A>C (p.Lys275Thr)
n.724A>C
17g.45996642A>GCA399978432MAPTc.713A>G (p.Lys238Arg)
c.626A>G (p.Lys209Arg)
c.800A>G (p.Lys267Arg)
n.664A>G
n.32A>G
c.1976A>G (p.Lys659Arg)
c.1778A>G (p.Lys593Arg)
c.1751A>G (p.Lys584Arg)
c.1805A>G (p.Lys602Arg)
n.754A>G
n.6085A>G
c.2063A>G (p.Lys688Arg)
c.1889A>G (p.Lys630Arg)
c.1865A>G (p.Lys622Arg)
c.998A>G (p.Lys333Arg)
c.911A>G (p.Lys304Arg)
c.824A>G (p.Lys275Arg)
n.724A>G
17g.45996642A>TCA399978433MAPTc.713A>T (p.Lys238Met)
c.626A>T (p.Lys209Met)
c.800A>T (p.Lys267Met)
n.664A>T
n.32A>T
c.1976A>T (p.Lys659Met)
c.1778A>T (p.Lys593Met)
c.1751A>T (p.Lys584Met)
c.1805A>T (p.Lys602Met)
n.754A>T
n.6085A>T
c.2063A>T (p.Lys688Met)
c.1889A>T (p.Lys630Met)
c.1865A>T (p.Lys622Met)
c.998A>T (p.Lys333Met)
c.911A>T (p.Lys304Met)
c.824A>T (p.Lys275Met)
n.724A>T
17g.45996643G>ACA500644066MAPTc.714G>A (p.Lys238=)
c.627G>A (p.Lys209=)
c.801G>A (p.Lys267=)
n.665G>A
n.33G>A
c.1977G>A (p.Lys659=)
c.1779G>A (p.Lys593=)
c.1752G>A (p.Lys584=)
c.1806G>A (p.Lys602=)
n.755G>A
n.6086G>A
c.2064G>A (p.Lys688=)
c.1890G>A (p.Lys630=)
c.1866G>A (p.Lys622=)
c.999G>A (p.Lys333=)
c.912G>A (p.Lys304=)
c.825G>A (p.Lys275=)
n.725G>A
17g.45996643G>CCA399978434MAPTc.714G>C (p.Lys238Asn)
c.627G>C (p.Lys209Asn)
c.801G>C (p.Lys267Asn)
n.665G>C
n.33G>C
c.1977G>C (p.Lys659Asn)
c.1779G>C (p.Lys593Asn)
c.1752G>C (p.Lys584Asn)
c.1806G>C (p.Lys602Asn)
n.755G>C
n.6086G>C
c.2064G>C (p.Lys688Asn)
c.1890G>C (p.Lys630Asn)
c.1866G>C (p.Lys622Asn)
c.999G>C (p.Lys333Asn)
c.912G>C (p.Lys304Asn)
c.825G>C (p.Lys275Asn)
n.725G>C
17g.45996643G>TCA399978435MAPTc.714G>T (p.Lys238Asn)
c.627G>T (p.Lys209Asn)
c.801G>T (p.Lys267Asn)
n.665G>T
n.33G>T
c.1977G>T (p.Lys659Asn)
c.1779G>T (p.Lys593Asn)
c.1752G>T (p.Lys584Asn)
c.1806G>T (p.Lys602Asn)
n.755G>T
n.6086G>T
c.2064G>T (p.Lys688Asn)
c.1890G>T (p.Lys630Asn)
c.1866G>T (p.Lys622Asn)
c.999G>T (p.Lys333Asn)
c.912G>T (p.Lys304Asn)
c.825G>T (p.Lys275Asn)
n.725G>T
17g.45996644C>ACA399978436MAPTc.715C>A (p.His239Asn)
c.628C>A (p.His210Asn)
c.802C>A (p.His268Asn)
n.666C>A
n.34C>A
c.1978C>A (p.His660Asn)
c.1780C>A (p.His594Asn)
c.1753C>A (p.His585Asn)
c.1807C>A (p.His603Asn)
n.756C>A
n.6087C>A
c.2065C>A (p.His689Asn)
c.1891C>A (p.His631Asn)
c.1867C>A (p.His623Asn)
c.1000C>A (p.His334Asn)
c.913C>A (p.His305Asn)
c.826C>A (p.His276Asn)
n.726C>A
17g.45996644C>GCA399978437MAPTc.715C>G (p.His239Asp)
c.628C>G (p.His210Asp)
c.802C>G (p.His268Asp)
n.666C>G
n.34C>G
c.1978C>G (p.His660Asp)
c.1780C>G (p.His594Asp)
c.1753C>G (p.His585Asp)
c.1807C>G (p.His603Asp)
n.756C>G
n.6087C>G
c.2065C>G (p.His689Asp)
c.1891C>G (p.His631Asp)
c.1867C>G (p.His623Asp)
c.1000C>G (p.His334Asp)
c.913C>G (p.His305Asp)
c.826C>G (p.His276Asp)
n.726C>G
17g.45996644C>TCA399978438MAPTc.715C>T (p.His239Tyr)
c.628C>T (p.His210Tyr)
c.802C>T (p.His268Tyr)
n.666C>T
n.34C>T
c.1978C>T (p.His660Tyr)
c.1780C>T (p.His594Tyr)
c.1753C>T (p.His585Tyr)
c.1807C>T (p.His603Tyr)
n.756C>T
n.6087C>T
c.2065C>T (p.His689Tyr)
c.1891C>T (p.His631Tyr)
c.1867C>T (p.His623Tyr)
c.1000C>T (p.His334Tyr)
c.913C>T (p.His305Tyr)
c.826C>T (p.His276Tyr)
n.726C>T
17g.45996645A>CCA399978439MAPTc.716A>C (p.His239Pro)
c.629A>C (p.His210Pro)
c.803A>C (p.His268Pro)
n.667A>C
n.35A>C
c.1979A>C (p.His660Pro)
c.1781A>C (p.His594Pro)
c.1754A>C (p.His585Pro)
c.1808A>C (p.His603Pro)
n.757A>C
n.6088A>C
c.2066A>C (p.His689Pro)
c.1892A>C (p.His631Pro)
c.1868A>C (p.His623Pro)
c.1001A>C (p.His334Pro)
c.914A>C (p.His305Pro)
c.827A>C (p.His276Pro)
n.727A>C
17g.45996645A>GCA399978441MAPTc.716A>G (p.His239Arg)
c.629A>G (p.His210Arg)
c.803A>G (p.His268Arg)
n.667A>G
n.35A>G
c.1979A>G (p.His660Arg)
c.1781A>G (p.His594Arg)
c.1754A>G (p.His585Arg)
c.1808A>G (p.His603Arg)
n.757A>G
n.6088A>G
c.2066A>G (p.His689Arg)
c.1892A>G (p.His631Arg)
c.1868A>G (p.His623Arg)
c.1001A>G (p.His334Arg)
c.914A>G (p.His305Arg)
c.827A>G (p.His276Arg)
n.727A>G
17g.45996645A>TCA399978440MAPTc.716A>T (p.His239Leu)
c.629A>T (p.His210Leu)
c.803A>T (p.His268Leu)
n.667A>T
n.35A>T
c.1979A>T (p.His660Leu)
c.1781A>T (p.His594Leu)
c.1754A>T (p.His585Leu)
c.1808A>T (p.His603Leu)
n.757A>T
n.6088A>T
c.2066A>T (p.His689Leu)
c.1892A>T (p.His631Leu)
c.1868A>T (p.His623Leu)
c.1001A>T (p.His334Leu)
c.914A>T (p.His305Leu)
c.827A>T (p.His276Leu)
n.727A>T
17g.45996646C>ACA399978442MAPTc.717C>A (p.His239Gln)
c.630C>A (p.His210Gln)
c.804C>A (p.His268Gln)
n.668C>A
n.36C>A
c.1980C>A (p.His660Gln)
c.1782C>A (p.His594Gln)
c.1755C>A (p.His585Gln)
c.1809C>A (p.His603Gln)
n.758C>A
n.6089C>A
c.2067C>A (p.His689Gln)
c.1893C>A (p.His631Gln)
c.1869C>A (p.His623Gln)
c.1002C>A (p.His334Gln)
c.915C>A (p.His305Gln)
c.828C>A (p.His276Gln)
n.728C>A
17g.45996646C=CA2262095043MAPTc.717C= (p.His239=)
c.630C= (p.His210=)
c.804C= (p.His268=)
n.668C=
n.36C=
c.1980C= (p.His660=)
c.1782C= (p.His594=)
c.1755C= (p.His585=)
c.1809C= (p.His603=)
n.758C=
n.6089C=
c.2067C= (p.His689=)
c.1893C= (p.His631=)
c.1869C= (p.His623=)
c.1002C= (p.His334=)
c.915C= (p.His305=)
c.828C= (p.His276=)
n.728C=
17g.45996646C>GCA399978443MAPTc.717C>G (p.His239Gln)
c.630C>G (p.His210Gln)
c.804C>G (p.His268Gln)
n.668C>G
n.36C>G
c.1980C>G (p.His660Gln)
c.1782C>G (p.His594Gln)
c.1755C>G (p.His585Gln)
c.1809C>G (p.His603Gln)
n.758C>G
n.6089C>G
c.2067C>G (p.His689Gln)
c.1893C>G (p.His631Gln)
c.1869C>G (p.His623Gln)
c.1002C>G (p.His334Gln)
c.915C>G (p.His305Gln)
c.828C>G (p.His276Gln)
n.728C>G
17g.45996646C>TCA500644067MAPTc.717C>T (p.His239=)
c.630C>T (p.His210=)
c.804C>T (p.His268=)
n.668C>T
n.36C>T
c.1980C>T (p.His660=)
c.1782C>T (p.His594=)
c.1755C>T (p.His585=)
c.1809C>T (p.His603=)
n.758C>T
n.6089C>T
c.2067C>T (p.His689=)
c.1893C>T (p.His631=)
c.1869C>T (p.His623=)
c.1002C>T (p.His334=)
c.915C>T (p.His305=)
c.828C>T (p.His276=)
n.728C>T
 dbSNP gnomAD v2 gnomAD v4
17g.45996647C>ACA399978444MAPTc.718C>A (p.Gln240Lys)
c.631C>A (p.Gln211Lys)
c.805C>A (p.Gln269Lys)
n.669C>A
n.37C>A
c.1981C>A (p.Gln661Lys)
c.1783C>A (p.Gln595Lys)
c.1756C>A (p.Gln586Lys)
c.1810C>A (p.Gln604Lys)
n.759C>A
n.6090C>A
c.2068C>A (p.Gln690Lys)
c.1894C>A (p.Gln632Lys)
c.1870C>A (p.Gln624Lys)
c.1003C>A (p.Gln335Lys)
c.916C>A (p.Gln306Lys)
c.829C>A (p.Gln277Lys)
n.729C>A
17g.45996647C>GCA399978445MAPTc.718C>G (p.Gln240Glu)
c.631C>G (p.Gln211Glu)
c.805C>G (p.Gln269Glu)
n.669C>G
n.37C>G
c.1981C>G (p.Gln661Glu)
c.1783C>G (p.Gln595Glu)
c.1756C>G (p.Gln586Glu)
c.1810C>G (p.Gln604Glu)
n.759C>G
n.6090C>G
c.2068C>G (p.Gln690Glu)
c.1894C>G (p.Gln632Glu)
c.1870C>G (p.Gln624Glu)
c.1003C>G (p.Gln335Glu)
c.916C>G (p.Gln306Glu)
c.829C>G (p.Gln277Glu)
n.729C>G
17g.45996647C>TCA399978446MAPTc.718C>T (p.Gln240Ter)
c.631C>T (p.Gln211Ter)
c.805C>T (p.Gln269Ter)
n.669C>T
n.37C>T
c.1981C>T (p.Gln661Ter)
c.1783C>T (p.Gln595Ter)
c.1756C>T (p.Gln586Ter)
c.1810C>T (p.Gln604Ter)
n.759C>T
n.6090C>T
c.2068C>T (p.Gln690Ter)
c.1894C>T (p.Gln632Ter)
c.1870C>T (p.Gln624Ter)
c.1003C>T (p.Gln335Ter)
c.916C>T (p.Gln306Ter)
c.829C>T (p.Gln277Ter)
n.729C>T
17g.45996648A=CA2262095044MAPTc.719A= (p.Gln240=)
c.632A= (p.Gln211=)
c.806A= (p.Gln269=)
n.670A=
n.38A=
c.1982A= (p.Gln661=)
c.1784A= (p.Gln595=)
c.1757A= (p.Gln586=)
c.1811A= (p.Gln604=)
n.760A=
n.6091A=
c.2069A= (p.Gln690=)
c.1895A= (p.Gln632=)
c.1871A= (p.Gln624=)
c.1004A= (p.Gln335=)
c.917A= (p.Gln306=)
c.830A= (p.Gln277=)
n.730A=
17g.45996648A>CCA399978447MAPTc.719A>C (p.Gln240Pro)
c.632A>C (p.Gln211Pro)
c.806A>C (p.Gln269Pro)
n.670A>C
n.38A>C
c.1982A>C (p.Gln661Pro)
c.1784A>C (p.Gln595Pro)
c.1757A>C (p.Gln586Pro)
c.1811A>C (p.Gln604Pro)
n.760A>C
n.6091A>C
c.2069A>C (p.Gln690Pro)
c.1895A>C (p.Gln632Pro)
c.1871A>C (p.Gln624Pro)
c.1004A>C (p.Gln335Pro)
c.917A>C (p.Gln306Pro)
c.830A>C (p.Gln277Pro)
n.730A>C
17g.45996648A>GCA399978448MAPTc.719A>G (p.Gln240Arg)
c.632A>G (p.Gln211Arg)
c.806A>G (p.Gln269Arg)
n.670A>G
n.38A>G
c.1982A>G (p.Gln661Arg)
c.1784A>G (p.Gln595Arg)
c.1757A>G (p.Gln586Arg)
c.1811A>G (p.Gln604Arg)
n.760A>G
n.6091A>G
c.2069A>G (p.Gln690Arg)
c.1895A>G (p.Gln632Arg)
c.1871A>G (p.Gln624Arg)
c.1004A>G (p.Gln335Arg)
c.917A>G (p.Gln306Arg)
c.830A>G (p.Gln277Arg)
n.730A>G
17g.45996648A>TCA399978449MAPTc.719A>T (p.Gln240Leu)
c.632A>T (p.Gln211Leu)
c.806A>T (p.Gln269Leu)
n.670A>T
n.38A>T
c.1982A>T (p.Gln661Leu)
c.1784A>T (p.Gln595Leu)
c.1757A>T (p.Gln586Leu)
c.1811A>T (p.Gln604Leu)
n.760A>T
n.6091A>T
c.2069A>T (p.Gln690Leu)
c.1895A>T (p.Gln632Leu)
c.1871A>T (p.Gln624Leu)
c.1004A>T (p.Gln335Leu)
c.917A>T (p.Gln306Leu)
c.830A>T (p.Gln277Leu)
n.730A>T
 ClinVar dbSNP gnomAD v4
17g.45996649G>ACA500644068MAPTc.720G>A (p.Gln240=)
c.633G>A (p.Gln211=)
c.807G>A (p.Gln269=)
n.671G>A
n.39G>A
c.1983G>A (p.Gln661=)
c.1785G>A (p.Gln595=)
c.1758G>A (p.Gln586=)
c.1812G>A (p.Gln604=)
n.761G>A
n.6092G>A
c.2070G>A (p.Gln690=)
c.1896G>A (p.Gln632=)
c.1872G>A (p.Gln624=)
c.1005G>A (p.Gln335=)
c.918G>A (p.Gln306=)
c.831G>A (p.Gln277=)
n.731G>A
17g.45996649G>CCA399978450MAPTc.720G>C (p.Gln240His)
c.633G>C (p.Gln211His)
c.807G>C (p.Gln269His)
n.671G>C
n.39G>C
c.1983G>C (p.Gln661His)
c.1785G>C (p.Gln595His)
c.1758G>C (p.Gln586His)
c.1812G>C (p.Gln604His)
n.761G>C
n.6092G>C
c.2070G>C (p.Gln690His)
c.1896G>C (p.Gln632His)
c.1872G>C (p.Gln624His)
c.1005G>C (p.Gln335His)
c.918G>C (p.Gln306His)
c.831G>C (p.Gln277His)
n.731G>C
17g.45996649G=CA2262095045MAPTc.720G= (p.Gln240=)
c.633G= (p.Gln211=)
c.807G= (p.Gln269=)
n.671G=
n.39G=
c.1983G= (p.Gln661=)
c.1785G= (p.Gln595=)
c.1758G= (p.Gln586=)
c.1812G= (p.Gln604=)
n.761G=
n.6092G=
c.2070G= (p.Gln690=)
c.1896G= (p.Gln632=)
c.1872G= (p.Gln624=)
c.1005G= (p.Gln335=)
c.918G= (p.Gln306=)
c.831G= (p.Gln277=)
n.731G=
17g.45996649G>TCA399978451MAPTc.720G>T (p.Gln240His)
c.633G>T (p.Gln211His)
c.807G>T (p.Gln269His)
n.671G>T
n.39G>T
c.1983G>T (p.Gln661His)
c.1785G>T (p.Gln595His)
c.1758G>T (p.Gln586His)
c.1812G>T (p.Gln604His)
n.761G>T
n.6092G>T
c.2070G>T (p.Gln690His)
c.1896G>T (p.Gln632His)
c.1872G>T (p.Gln624His)
c.1005G>T (p.Gln335His)
c.918G>T (p.Gln306His)
c.831G>T (p.Gln277His)
n.731G>T
 dbSNP
17g.45996650C>ACA399978453MAPTc.721C>A (p.Pro241Thr)
c.634C>A (p.Pro212Thr)
c.808C>A (p.Pro270Thr)
n.672C>A
n.40C>A
c.1984C>A (p.Pro662Thr)
c.1786C>A (p.Pro596Thr)
c.1759C>A (p.Pro587Thr)
c.1813C>A (p.Pro605Thr)
n.762C>A
n.6093C>A
c.2071C>A (p.Pro691Thr)
c.1897C>A (p.Pro633Thr)
c.1873C>A (p.Pro625Thr)
c.1006C>A (p.Pro336Thr)
c.919C>A (p.Pro307Thr)
c.832C>A (p.Pro278Thr)
n.732C>A
17g.45996650C>GCA399978454MAPTc.721C>G (p.Pro241Ala)
c.634C>G (p.Pro212Ala)
c.808C>G (p.Pro270Ala)
n.672C>G
n.40C>G
c.1984C>G (p.Pro662Ala)
c.1786C>G (p.Pro596Ala)
c.1759C>G (p.Pro587Ala)
c.1813C>G (p.Pro605Ala)
n.762C>G
n.6093C>G
c.2071C>G (p.Pro691Ala)
c.1897C>G (p.Pro633Ala)
c.1873C>G (p.Pro625Ala)
c.1006C>G (p.Pro336Ala)
c.919C>G (p.Pro307Ala)
c.832C>G (p.Pro278Ala)
n.732C>G
17g.45996650C>TCA399978452MAPTc.721C>T (p.Pro241Ser)
c.634C>T (p.Pro212Ser)
c.808C>T (p.Pro270Ser)
n.672C>T
n.40C>T
c.1984C>T (p.Pro662Ser)
c.1786C>T (p.Pro596Ser)
c.1759C>T (p.Pro587Ser)
c.1813C>T (p.Pro605Ser)
n.762C>T
n.6093C>T
c.2071C>T (p.Pro691Ser)
c.1897C>T (p.Pro633Ser)
c.1873C>T (p.Pro625Ser)
c.1006C>T (p.Pro336Ser)
c.919C>T (p.Pro307Ser)
c.832C>T (p.Pro278Ser)
n.732C>T
17g.45996651C>ACA399978455MAPTc.722C>A (p.Pro241Gln)
c.635C>A (p.Pro212Gln)
c.809C>A (p.Pro270Gln)
n.673C>A
n.41C>A
c.1985C>A (p.Pro662Gln)
c.1787C>A (p.Pro596Gln)
c.1760C>A (p.Pro587Gln)
c.1814C>A (p.Pro605Gln)
n.763C>A
n.6094C>A
c.2072C>A (p.Pro691Gln)
c.1898C>A (p.Pro633Gln)
c.1874C>A (p.Pro625Gln)
c.1007C>A (p.Pro336Gln)
c.920C>A (p.Pro307Gln)
c.833C>A (p.Pro278Gln)
n.733C>A
17g.45996651C=CA2262095046MAPTc.722C= (p.Pro241=)
c.635C= (p.Pro212=)
c.809C= (p.Pro270=)
n.673C=
n.41C=
c.1985C= (p.Pro662=)
c.1787C= (p.Pro596=)
c.1760C= (p.Pro587=)
c.1814C= (p.Pro605=)
n.763C=
n.6094C=
c.2072C= (p.Pro691=)
c.1898C= (p.Pro633=)
c.1874C= (p.Pro625=)
c.1007C= (p.Pro336=)
c.920C= (p.Pro307=)
c.833C= (p.Pro278=)
n.733C=
17g.45996651C>GCA399978456MAPTc.722C>G (p.Pro241Arg)
c.635C>G (p.Pro212Arg)
c.809C>G (p.Pro270Arg)
n.673C>G
n.41C>G
c.1985C>G (p.Pro662Arg)
c.1787C>G (p.Pro596Arg)
c.1760C>G (p.Pro587Arg)
c.1814C>G (p.Pro605Arg)
n.763C>G
n.6094C>G
c.2072C>G (p.Pro691Arg)
c.1898C>G (p.Pro633Arg)
c.1874C>G (p.Pro625Arg)
c.1007C>G (p.Pro336Arg)
c.920C>G (p.Pro307Arg)
c.833C>G (p.Pro278Arg)
n.733C>G
17g.45996651C>TCA291107190MAPTc.722C>T (p.Pro241Leu)
c.635C>T (p.Pro212Leu)
c.809C>T (p.Pro270Leu)
n.673C>T
n.41C>T
c.1985C>T (p.Pro662Leu)
c.1787C>T (p.Pro596Leu)
c.1760C>T (p.Pro587Leu)
c.1814C>T (p.Pro605Leu)
n.763C>T
n.6094C>T
c.2072C>T (p.Pro691Leu)
c.1898C>T (p.Pro633Leu)
c.1874C>T (p.Pro625Leu)
c.1007C>T (p.Pro336Leu)
c.920C>T (p.Pro307Leu)
c.833C>T (p.Pro278Leu)
n.733C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched