Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.45996521G>ACA399978176MAPTc.592G>A (p.Ala198Thr)
c.505G>A (p.Ala169Thr)
c.679G>A (p.Ala227Thr)
n.543G>A
c.1855G>A (p.Ala619Thr)
c.1657G>A (p.Ala553Thr)
c.1630G>A (p.Ala544Thr)
c.1684G>A (p.Ala562Thr)
n.633G>A
n.5964G>A
c.1942G>A (p.Ala648Thr)
c.1768G>A (p.Ala590Thr)
c.1744G>A (p.Ala582Thr)
c.877G>A (p.Ala293Thr)
c.790G>A (p.Ala264Thr)
c.703G>A (p.Ala235Thr)
n.603G>A
17g.45996521G>CCA399978177MAPTc.592G>C (p.Ala198Pro)
c.505G>C (p.Ala169Pro)
c.679G>C (p.Ala227Pro)
n.543G>C
c.1855G>C (p.Ala619Pro)
c.1657G>C (p.Ala553Pro)
c.1630G>C (p.Ala544Pro)
c.1684G>C (p.Ala562Pro)
n.633G>C
n.5964G>C
c.1942G>C (p.Ala648Pro)
c.1768G>C (p.Ala590Pro)
c.1744G>C (p.Ala582Pro)
c.877G>C (p.Ala293Pro)
c.790G>C (p.Ala264Pro)
c.703G>C (p.Ala235Pro)
n.603G>C
17g.45996521G=CA2262095005MAPTc.592G= (p.Ala198=)
c.505G= (p.Ala169=)
c.679G= (p.Ala227=)
n.543G=
c.1855G= (p.Ala619=)
c.1657G= (p.Ala553=)
c.1630G= (p.Ala544=)
c.1684G= (p.Ala562=)
n.633G=
n.5964G=
c.1942G= (p.Ala648=)
c.1768G= (p.Ala590=)
c.1744G= (p.Ala582=)
c.877G= (p.Ala293=)
c.790G= (p.Ala264=)
c.703G= (p.Ala235=)
n.603G=
17g.45996521G>TCA399978178MAPTc.592G>T (p.Ala198Ser)
c.505G>T (p.Ala169Ser)
c.679G>T (p.Ala227Ser)
n.543G>T
c.1855G>T (p.Ala619Ser)
c.1657G>T (p.Ala553Ser)
c.1630G>T (p.Ala544Ser)
c.1684G>T (p.Ala562Ser)
n.633G>T
n.5964G>T
c.1942G>T (p.Ala648Ser)
c.1768G>T (p.Ala590Ser)
c.1744G>T (p.Ala582Ser)
c.877G>T (p.Ala293Ser)
c.790G>T (p.Ala264Ser)
c.703G>T (p.Ala235Ser)
n.603G>T
 dbSNP
17g.45996522C>ACA399978181MAPTc.593C>A (p.Ala198Glu)
c.506C>A (p.Ala169Glu)
c.680C>A (p.Ala227Glu)
n.544C>A
c.1856C>A (p.Ala619Glu)
c.1658C>A (p.Ala553Glu)
c.1631C>A (p.Ala544Glu)
c.1685C>A (p.Ala562Glu)
n.634C>A
n.5965C>A
c.1943C>A (p.Ala648Glu)
c.1769C>A (p.Ala590Glu)
c.1745C>A (p.Ala582Glu)
c.878C>A (p.Ala293Glu)
c.791C>A (p.Ala264Glu)
c.704C>A (p.Ala235Glu)
n.604C>A
17g.45996522C>GCA399978179MAPTc.593C>G (p.Ala198Gly)
c.506C>G (p.Ala169Gly)
c.680C>G (p.Ala227Gly)
n.544C>G
c.1856C>G (p.Ala619Gly)
c.1658C>G (p.Ala553Gly)
c.1631C>G (p.Ala544Gly)
c.1685C>G (p.Ala562Gly)
n.634C>G
n.5965C>G
c.1943C>G (p.Ala648Gly)
c.1769C>G (p.Ala590Gly)
c.1745C>G (p.Ala582Gly)
c.878C>G (p.Ala293Gly)
c.791C>G (p.Ala264Gly)
c.704C>G (p.Ala235Gly)
n.604C>G
17g.45996522C>TCA399978180MAPTc.593C>T (p.Ala198Val)
c.506C>T (p.Ala169Val)
c.680C>T (p.Ala227Val)
n.544C>T
c.1856C>T (p.Ala619Val)
c.1658C>T (p.Ala553Val)
c.1631C>T (p.Ala544Val)
c.1685C>T (p.Ala562Val)
n.634C>T
n.5965C>T
c.1943C>T (p.Ala648Val)
c.1769C>T (p.Ala590Val)
c.1745C>T (p.Ala582Val)
c.878C>T (p.Ala293Val)
c.791C>T (p.Ala264Val)
c.704C>T (p.Ala235Val)
n.604C>T
 gnomAD v4
17g.45996523A=CA2262095006MAPTc.594A= (p.Ala198=)
c.507A= (p.Ala169=)
c.681A= (p.Ala227=)
n.545A=
c.1857A= (p.Ala619=)
c.1659A= (p.Ala553=)
c.1632A= (p.Ala544=)
c.1686A= (p.Ala562=)
n.635A=
n.5966A=
c.1944A= (p.Ala648=)
c.1770A= (p.Ala590=)
c.1746A= (p.Ala582=)
c.879A= (p.Ala293=)
c.792A= (p.Ala264=)
c.705A= (p.Ala235=)
n.605A=
17g.45996523A>CCA500643984MAPTc.594A>C (p.Ala198=)
c.507A>C (p.Ala169=)
c.681A>C (p.Ala227=)
n.545A>C
c.1857A>C (p.Ala619=)
c.1659A>C (p.Ala553=)
c.1632A>C (p.Ala544=)
c.1686A>C (p.Ala562=)
n.635A>C
n.5966A>C
c.1944A>C (p.Ala648=)
c.1770A>C (p.Ala590=)
c.1746A>C (p.Ala582=)
c.879A>C (p.Ala293=)
c.792A>C (p.Ala264=)
c.705A>C (p.Ala235=)
n.605A>C
17g.45996523A>GCA225407MAPTc.594A>G (p.Ala198=)
c.507A>G (p.Ala169=)
c.681A>G (p.Ala227=)
n.545A>G
c.1857A>G (p.Ala619=)
c.1659A>G (p.Ala553=)
c.1632A>G (p.Ala544=)
c.1686A>G (p.Ala562=)
n.635A>G
n.5966A>G
c.1944A>G (p.Ala648=)
c.1770A>G (p.Ala590=)
c.1746A>G (p.Ala582=)
c.879A>G (p.Ala293=)
c.792A>G (p.Ala264=)
c.705A>G (p.Ala235=)
n.605A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996523A>TCA500643983MAPTc.594A>T (p.Ala198=)
c.507A>T (p.Ala169=)
c.681A>T (p.Ala227=)
n.545A>T
c.1857A>T (p.Ala619=)
c.1659A>T (p.Ala553=)
c.1632A>T (p.Ala544=)
c.1686A>T (p.Ala562=)
n.635A>T
n.5966A>T
c.1944A>T (p.Ala648=)
c.1770A>T (p.Ala590=)
c.1746A>T (p.Ala582=)
c.879A>T (p.Ala293=)
c.792A>T (p.Ala264=)
c.705A>T (p.Ala235=)
n.605A>T
17g.45996524G>ACA399978182MAPTc.595G>A (p.Val199Met)
c.508G>A (p.Val170Met)
c.682G>A (p.Val228Met)
n.546G>A
c.1858G>A (p.Val620Met)
c.1660G>A (p.Val554Met)
c.1633G>A (p.Val545Met)
c.1687G>A (p.Val563Met)
n.636G>A
n.5967G>A
c.1945G>A (p.Val649Met)
c.1771G>A (p.Val591Met)
c.1747G>A (p.Val583Met)
c.880G>A (p.Val294Met)
c.793G>A (p.Val265Met)
c.706G>A (p.Val236Met)
n.606G>A
17g.45996524G>CCA399978183MAPTc.595G>C (p.Val199Leu)
c.508G>C (p.Val170Leu)
c.682G>C (p.Val228Leu)
n.546G>C
c.1858G>C (p.Val620Leu)
c.1660G>C (p.Val554Leu)
c.1633G>C (p.Val545Leu)
c.1687G>C (p.Val563Leu)
n.636G>C
n.5967G>C
c.1945G>C (p.Val649Leu)
c.1771G>C (p.Val591Leu)
c.1747G>C (p.Val583Leu)
c.880G>C (p.Val294Leu)
c.793G>C (p.Val265Leu)
c.706G>C (p.Val236Leu)
n.606G>C
17g.45996524G>TCA399978184MAPTc.595G>T (p.Val199Leu)
c.508G>T (p.Val170Leu)
c.682G>T (p.Val228Leu)
n.546G>T
c.1858G>T (p.Val620Leu)
c.1660G>T (p.Val554Leu)
c.1633G>T (p.Val545Leu)
c.1687G>T (p.Val563Leu)
n.636G>T
n.5967G>T
c.1945G>T (p.Val649Leu)
c.1771G>T (p.Val591Leu)
c.1747G>T (p.Val583Leu)
c.880G>T (p.Val294Leu)
c.793G>T (p.Val265Leu)
c.706G>T (p.Val236Leu)
n.606G>T
17g.45996525T>ACA399978185MAPTc.596T>A (p.Val199Glu)
c.509T>A (p.Val170Glu)
c.683T>A (p.Val228Glu)
n.547T>A
c.1859T>A (p.Val620Glu)
c.1661T>A (p.Val554Glu)
c.1634T>A (p.Val545Glu)
c.1688T>A (p.Val563Glu)
n.637T>A
n.5968T>A
c.1946T>A (p.Val649Glu)
c.1772T>A (p.Val591Glu)
c.1748T>A (p.Val583Glu)
c.881T>A (p.Val294Glu)
c.794T>A (p.Val265Glu)
c.707T>A (p.Val236Glu)
n.607T>A
17g.45996525T>CCA399978186MAPTc.596T>C (p.Val199Ala)
c.509T>C (p.Val170Ala)
c.683T>C (p.Val228Ala)
n.547T>C
c.1859T>C (p.Val620Ala)
c.1661T>C (p.Val554Ala)
c.1634T>C (p.Val545Ala)
c.1688T>C (p.Val563Ala)
n.637T>C
n.5968T>C
c.1946T>C (p.Val649Ala)
c.1772T>C (p.Val591Ala)
c.1748T>C (p.Val583Ala)
c.881T>C (p.Val294Ala)
c.794T>C (p.Val265Ala)
c.707T>C (p.Val236Ala)
n.607T>C
17g.45996525T>GCA399978187MAPTc.596T>G (p.Val199Gly)
c.509T>G (p.Val170Gly)
c.683T>G (p.Val228Gly)
n.547T>G
c.1859T>G (p.Val620Gly)
c.1661T>G (p.Val554Gly)
c.1634T>G (p.Val545Gly)
c.1688T>G (p.Val563Gly)
n.637T>G
n.5968T>G
c.1946T>G (p.Val649Gly)
c.1772T>G (p.Val591Gly)
c.1748T>G (p.Val583Gly)
c.881T>G (p.Val294Gly)
c.794T>G (p.Val265Gly)
c.707T>G (p.Val236Gly)
n.607T>G
17g.45996526G>ACA500643985MAPTc.597G>A (p.Val199=)
c.510G>A (p.Val170=)
c.684G>A (p.Val228=)
n.548G>A
c.1860G>A (p.Val620=)
c.1662G>A (p.Val554=)
c.1635G>A (p.Val545=)
c.1689G>A (p.Val563=)
n.638G>A
n.5969G>A
c.1947G>A (p.Val649=)
c.1773G>A (p.Val591=)
c.1749G>A (p.Val583=)
c.882G>A (p.Val294=)
c.795G>A (p.Val265=)
c.708G>A (p.Val236=)
n.608G>A
17g.45996526G>CCA500643987MAPTc.597G>C (p.Val199=)
c.510G>C (p.Val170=)
c.684G>C (p.Val228=)
n.548G>C
c.1860G>C (p.Val620=)
c.1662G>C (p.Val554=)
c.1635G>C (p.Val545=)
c.1689G>C (p.Val563=)
n.638G>C
n.5969G>C
c.1947G>C (p.Val649=)
c.1773G>C (p.Val591=)
c.1749G>C (p.Val583=)
c.882G>C (p.Val294=)
c.795G>C (p.Val265=)
c.708G>C (p.Val236=)
n.608G>C
17g.45996526G>TCA500643986MAPTc.597G>T (p.Val199=)
c.510G>T (p.Val170=)
c.684G>T (p.Val228=)
n.548G>T
c.1860G>T (p.Val620=)
c.1662G>T (p.Val554=)
c.1635G>T (p.Val545=)
c.1689G>T (p.Val563=)
n.638G>T
n.5969G>T
c.1947G>T (p.Val649=)
c.1773G>T (p.Val591=)
c.1749G>T (p.Val583=)
c.882G>T (p.Val294=)
c.795G>T (p.Val265=)
c.708G>T (p.Val236=)
n.608G>T
17g.45996527G>ACA399978188MAPTc.598G>A (p.Val200Ile)
c.511G>A (p.Val171Ile)
c.685G>A (p.Val229Ile)
n.549G>A
c.1861G>A (p.Val621Ile)
c.1663G>A (p.Val555Ile)
c.1636G>A (p.Val546Ile)
c.1690G>A (p.Val564Ile)
n.639G>A
n.5970G>A
c.1948G>A (p.Val650Ile)
c.1774G>A (p.Val592Ile)
c.1750G>A (p.Val584Ile)
c.883G>A (p.Val295Ile)
c.796G>A (p.Val266Ile)
c.709G>A (p.Val237Ile)
n.609G>A
17g.45996527G>CCA399978189MAPTc.598G>C (p.Val200Leu)
c.511G>C (p.Val171Leu)
c.685G>C (p.Val229Leu)
n.549G>C
c.1861G>C (p.Val621Leu)
c.1663G>C (p.Val555Leu)
c.1636G>C (p.Val546Leu)
c.1690G>C (p.Val564Leu)
n.639G>C
n.5970G>C
c.1948G>C (p.Val650Leu)
c.1774G>C (p.Val592Leu)
c.1750G>C (p.Val584Leu)
c.883G>C (p.Val295Leu)
c.796G>C (p.Val266Leu)
c.709G>C (p.Val237Leu)
n.609G>C
17g.45996527G>TCA399978190MAPTc.598G>T (p.Val200Phe)
c.511G>T (p.Val171Phe)
c.685G>T (p.Val229Phe)
n.549G>T
c.1861G>T (p.Val621Phe)
c.1663G>T (p.Val555Phe)
c.1636G>T (p.Val546Phe)
c.1690G>T (p.Val564Phe)
n.639G>T
n.5970G>T
c.1948G>T (p.Val650Phe)
c.1774G>T (p.Val592Phe)
c.1750G>T (p.Val584Phe)
c.883G>T (p.Val295Phe)
c.796G>T (p.Val266Phe)
c.709G>T (p.Val237Phe)
n.609G>T
17g.45996528T>ACA399978191MAPTc.599T>A (p.Val200Asp)
c.512T>A (p.Val171Asp)
c.686T>A (p.Val229Asp)
n.550T>A
c.1862T>A (p.Val621Asp)
c.1664T>A (p.Val555Asp)
c.1637T>A (p.Val546Asp)
c.1691T>A (p.Val564Asp)
n.640T>A
n.5971T>A
c.1949T>A (p.Val650Asp)
c.1775T>A (p.Val592Asp)
c.1751T>A (p.Val584Asp)
c.884T>A (p.Val295Asp)
c.797T>A (p.Val266Asp)
c.710T>A (p.Val237Asp)
n.610T>A
17g.45996528T>CCA399978192MAPTc.599T>C (p.Val200Ala)
c.512T>C (p.Val171Ala)
c.686T>C (p.Val229Ala)
n.550T>C
c.1862T>C (p.Val621Ala)
c.1664T>C (p.Val555Ala)
c.1637T>C (p.Val546Ala)
c.1691T>C (p.Val564Ala)
n.640T>C
n.5971T>C
c.1949T>C (p.Val650Ala)
c.1775T>C (p.Val592Ala)
c.1751T>C (p.Val584Ala)
c.884T>C (p.Val295Ala)
c.797T>C (p.Val266Ala)
c.710T>C (p.Val237Ala)
n.610T>C
17g.45996528T>GCA399978193MAPTc.599T>G (p.Val200Gly)
c.512T>G (p.Val171Gly)
c.686T>G (p.Val229Gly)
n.550T>G
c.1862T>G (p.Val621Gly)
c.1664T>G (p.Val555Gly)
c.1637T>G (p.Val546Gly)
c.1691T>G (p.Val564Gly)
n.640T>G
n.5971T>G
c.1949T>G (p.Val650Gly)
c.1775T>G (p.Val592Gly)
c.1751T>G (p.Val584Gly)
c.884T>G (p.Val295Gly)
c.797T>G (p.Val266Gly)
c.710T>G (p.Val237Gly)
n.610T>G
17g.45996529C>ACA500643988MAPTc.600C>A (p.Val200=)
c.513C>A (p.Val171=)
c.687C>A (p.Val229=)
n.551C>A
c.1863C>A (p.Val621=)
c.1665C>A (p.Val555=)
c.1638C>A (p.Val546=)
c.1692C>A (p.Val564=)
n.641C>A
n.5972C>A
c.1950C>A (p.Val650=)
c.1776C>A (p.Val592=)
c.1752C>A (p.Val584=)
c.885C>A (p.Val295=)
c.798C>A (p.Val266=)
c.711C>A (p.Val237=)
n.611C>A
17g.45996529C>GCA500643989MAPTc.600C>G (p.Val200=)
c.513C>G (p.Val171=)
c.687C>G (p.Val229=)
n.551C>G
c.1863C>G (p.Val621=)
c.1665C>G (p.Val555=)
c.1638C>G (p.Val546=)
c.1692C>G (p.Val564=)
n.641C>G
n.5972C>G
c.1950C>G (p.Val650=)
c.1776C>G (p.Val592=)
c.1752C>G (p.Val584=)
c.885C>G (p.Val295=)
c.798C>G (p.Val266=)
c.711C>G (p.Val237=)
n.611C>G
17g.45996529C>TCA500643990MAPTc.600C>T (p.Val200=)
c.513C>T (p.Val171=)
c.687C>T (p.Val229=)
n.551C>T
c.1863C>T (p.Val621=)
c.1665C>T (p.Val555=)
c.1638C>T (p.Val546=)
c.1692C>T (p.Val564=)
n.641C>T
n.5972C>T
c.1950C>T (p.Val650=)
c.1776C>T (p.Val592=)
c.1752C>T (p.Val584=)
c.885C>T (p.Val295=)
c.798C>T (p.Val266=)
c.711C>T (p.Val237=)
n.611C>T
17g.45996530C>ACA399978195MAPTc.601C>A (p.Arg201Ser)
c.514C>A (p.Arg172Ser)
c.688C>A (p.Arg230Ser)
n.552C>A
c.1864C>A (p.Arg622Ser)
c.1666C>A (p.Arg556Ser)
c.1639C>A (p.Arg547Ser)
c.1693C>A (p.Arg565Ser)
n.642C>A
n.5973C>A
c.1951C>A (p.Arg651Ser)
c.1777C>A (p.Arg593Ser)
c.1753C>A (p.Arg585Ser)
c.886C>A (p.Arg296Ser)
c.799C>A (p.Arg267Ser)
c.712C>A (p.Arg238Ser)
n.612C>A
17g.45996530C>GCA399978196MAPTc.601C>G (p.Arg201Gly)
c.514C>G (p.Arg172Gly)
c.688C>G (p.Arg230Gly)
n.552C>G
c.1864C>G (p.Arg622Gly)
c.1666C>G (p.Arg556Gly)
c.1639C>G (p.Arg547Gly)
c.1693C>G (p.Arg565Gly)
n.642C>G
n.5973C>G
c.1951C>G (p.Arg651Gly)
c.1777C>G (p.Arg593Gly)
c.1753C>G (p.Arg585Gly)
c.886C>G (p.Arg296Gly)
c.799C>G (p.Arg267Gly)
c.712C>G (p.Arg238Gly)
n.612C>G
17g.45996530C>TCA399978194MAPTc.601C>T (p.Arg201Cys)
c.514C>T (p.Arg172Cys)
c.688C>T (p.Arg230Cys)
n.552C>T
c.1864C>T (p.Arg622Cys)
c.1666C>T (p.Arg556Cys)
c.1639C>T (p.Arg547Cys)
c.1693C>T (p.Arg565Cys)
n.642C>T
n.5973C>T
c.1951C>T (p.Arg651Cys)
c.1777C>T (p.Arg593Cys)
c.1753C>T (p.Arg585Cys)
c.886C>T (p.Arg296Cys)
c.799C>T (p.Arg267Cys)
c.712C>T (p.Arg238Cys)
n.612C>T
 dbSNP gnomAD v4
17g.45996531G>ACA399978199MAPTc.602G>A (p.Arg201His)
c.515G>A (p.Arg172His)
c.689G>A (p.Arg230His)
n.553G>A
c.1865G>A (p.Arg622His)
c.1667G>A (p.Arg556His)
c.1640G>A (p.Arg547His)
c.1694G>A (p.Arg565His)
n.643G>A
n.5974G>A
c.1952G>A (p.Arg651His)
c.1778G>A (p.Arg593His)
c.1754G>A (p.Arg585His)
c.887G>A (p.Arg296His)
c.800G>A (p.Arg267His)
c.713G>A (p.Arg238His)
n.613G>A
 dbSNP gnomAD v2 gnomAD v4
17g.45996531G>CCA399978197MAPTc.602G>C (p.Arg201Pro)
c.515G>C (p.Arg172Pro)
c.689G>C (p.Arg230Pro)
n.553G>C
c.1865G>C (p.Arg622Pro)
c.1667G>C (p.Arg556Pro)
c.1640G>C (p.Arg547Pro)
c.1694G>C (p.Arg565Pro)
n.643G>C
n.5974G>C
c.1952G>C (p.Arg651Pro)
c.1778G>C (p.Arg593Pro)
c.1754G>C (p.Arg585Pro)
c.887G>C (p.Arg296Pro)
c.800G>C (p.Arg267Pro)
c.713G>C (p.Arg238Pro)
n.613G>C
17g.45996531G=CA2262095007MAPTc.602G= (p.Arg201=)
c.515G= (p.Arg172=)
c.689G= (p.Arg230=)
n.553G=
c.1865G= (p.Arg622=)
c.1667G= (p.Arg556=)
c.1640G= (p.Arg547=)
c.1694G= (p.Arg565=)
n.643G=
n.5974G=
c.1952G= (p.Arg651=)
c.1778G= (p.Arg593=)
c.1754G= (p.Arg585=)
c.887G= (p.Arg296=)
c.800G= (p.Arg267=)
c.713G= (p.Arg238=)
n.613G=
17g.45996531G>TCA399978198MAPTc.602G>T (p.Arg201Leu)
c.515G>T (p.Arg172Leu)
c.689G>T (p.Arg230Leu)
n.553G>T
c.1865G>T (p.Arg622Leu)
c.1667G>T (p.Arg556Leu)
c.1640G>T (p.Arg547Leu)
c.1694G>T (p.Arg565Leu)
n.643G>T
n.5974G>T
c.1952G>T (p.Arg651Leu)
c.1778G>T (p.Arg593Leu)
c.1754G>T (p.Arg585Leu)
c.887G>T (p.Arg296Leu)
c.800G>T (p.Arg267Leu)
c.713G>T (p.Arg238Leu)
n.613G>T
17g.45996532T>ACA500643992MAPTc.603T>A (p.Arg201=)
c.516T>A (p.Arg172=)
c.690T>A (p.Arg230=)
n.554T>A
c.1866T>A (p.Arg622=)
c.1668T>A (p.Arg556=)
c.1641T>A (p.Arg547=)
c.1695T>A (p.Arg565=)
n.644T>A
n.5975T>A
c.1953T>A (p.Arg651=)
c.1779T>A (p.Arg593=)
c.1755T>A (p.Arg585=)
c.888T>A (p.Arg296=)
c.801T>A (p.Arg267=)
c.714T>A (p.Arg238=)
n.614T>A
17g.45996532T>CCA8618049MAPTc.603T>C (p.Arg201=)
c.516T>C (p.Arg172=)
c.690T>C (p.Arg230=)
n.554T>C
c.1866T>C (p.Arg622=)
c.1668T>C (p.Arg556=)
c.1641T>C (p.Arg547=)
c.1695T>C (p.Arg565=)
n.644T>C
n.5975T>C
c.1953T>C (p.Arg651=)
c.1779T>C (p.Arg593=)
c.1755T>C (p.Arg585=)
c.888T>C (p.Arg296=)
c.801T>C (p.Arg267=)
c.714T>C (p.Arg238=)
n.614T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996532T>GCA500643991MAPTc.603T>G (p.Arg201=)
c.516T>G (p.Arg172=)
c.690T>G (p.Arg230=)
n.554T>G
c.1866T>G (p.Arg622=)
c.1668T>G (p.Arg556=)
c.1641T>G (p.Arg547=)
c.1695T>G (p.Arg565=)
n.644T>G
n.5975T>G
c.1953T>G (p.Arg651=)
c.1779T>G (p.Arg593=)
c.1755T>G (p.Arg585=)
c.888T>G (p.Arg296=)
c.801T>G (p.Arg267=)
c.714T>G (p.Arg238=)
n.614T>G
17g.45996532T=CA2262095008MAPTc.603T= (p.Arg201=)
c.516T= (p.Arg172=)
c.690T= (p.Arg230=)
n.554T=
c.1866T= (p.Arg622=)
c.1668T= (p.Arg556=)
c.1641T= (p.Arg547=)
c.1695T= (p.Arg565=)
n.644T=
n.5975T=
c.1953T= (p.Arg651=)
c.1779T= (p.Arg593=)
c.1755T= (p.Arg585=)
c.888T= (p.Arg296=)
c.801T= (p.Arg267=)
c.714T= (p.Arg238=)
n.614T=
17g.45996533A>CCA399978200MAPTc.604A>C (p.Thr202Pro)
c.517A>C (p.Thr173Pro)
c.691A>C (p.Thr231Pro)
n.555A>C
c.1867A>C (p.Thr623Pro)
c.1669A>C (p.Thr557Pro)
c.1642A>C (p.Thr548Pro)
c.1696A>C (p.Thr566Pro)
n.645A>C
n.5976A>C
c.1954A>C (p.Thr652Pro)
c.1780A>C (p.Thr594Pro)
c.1756A>C (p.Thr586Pro)
c.889A>C (p.Thr297Pro)
c.802A>C (p.Thr268Pro)
c.715A>C (p.Thr239Pro)
n.615A>C
 gnomAD v3 gnomAD v4
17g.45996533A>GCA399978201MAPTc.604A>G (p.Thr202Ala)
c.517A>G (p.Thr173Ala)
c.691A>G (p.Thr231Ala)
n.555A>G
c.1867A>G (p.Thr623Ala)
c.1669A>G (p.Thr557Ala)
c.1642A>G (p.Thr548Ala)
c.1696A>G (p.Thr566Ala)
n.645A>G
n.5976A>G
c.1954A>G (p.Thr652Ala)
c.1780A>G (p.Thr594Ala)
c.1756A>G (p.Thr586Ala)
c.889A>G (p.Thr297Ala)
c.802A>G (p.Thr268Ala)
c.715A>G (p.Thr239Ala)
n.615A>G
17g.45996533A>TCA399978202MAPTc.604A>T (p.Thr202Ser)
c.517A>T (p.Thr173Ser)
c.691A>T (p.Thr231Ser)
n.555A>T
c.1867A>T (p.Thr623Ser)
c.1669A>T (p.Thr557Ser)
c.1642A>T (p.Thr548Ser)
c.1696A>T (p.Thr566Ser)
n.645A>T
n.5976A>T
c.1954A>T (p.Thr652Ser)
c.1780A>T (p.Thr594Ser)
c.1756A>T (p.Thr586Ser)
c.889A>T (p.Thr297Ser)
c.802A>T (p.Thr268Ser)
c.715A>T (p.Thr239Ser)
n.615A>T
17g.45996534C>ACA399978203MAPTc.605C>A (p.Thr202Asn)
c.518C>A (p.Thr173Asn)
c.692C>A (p.Thr231Asn)
n.556C>A
c.1868C>A (p.Thr623Asn)
c.1670C>A (p.Thr557Asn)
c.1643C>A (p.Thr548Asn)
c.1697C>A (p.Thr566Asn)
n.646C>A
n.5977C>A
c.1955C>A (p.Thr652Asn)
c.1781C>A (p.Thr594Asn)
c.1757C>A (p.Thr586Asn)
c.890C>A (p.Thr297Asn)
c.803C>A (p.Thr268Asn)
c.716C>A (p.Thr239Asn)
n.616C>A
17g.45996534C>GCA399978204MAPTc.605C>G (p.Thr202Ser)
c.518C>G (p.Thr173Ser)
c.692C>G (p.Thr231Ser)
n.556C>G
c.1868C>G (p.Thr623Ser)
c.1670C>G (p.Thr557Ser)
c.1643C>G (p.Thr548Ser)
c.1697C>G (p.Thr566Ser)
n.646C>G
n.5977C>G
c.1955C>G (p.Thr652Ser)
c.1781C>G (p.Thr594Ser)
c.1757C>G (p.Thr586Ser)
c.890C>G (p.Thr297Ser)
c.803C>G (p.Thr268Ser)
c.716C>G (p.Thr239Ser)
n.616C>G
17g.45996534C>TCA399978205MAPTc.605C>T (p.Thr202Ile)
c.518C>T (p.Thr173Ile)
c.692C>T (p.Thr231Ile)
n.556C>T
c.1868C>T (p.Thr623Ile)
c.1670C>T (p.Thr557Ile)
c.1643C>T (p.Thr548Ile)
c.1697C>T (p.Thr566Ile)
n.646C>T
n.5977C>T
c.1955C>T (p.Thr652Ile)
c.1781C>T (p.Thr594Ile)
c.1757C>T (p.Thr586Ile)
c.890C>T (p.Thr297Ile)
c.803C>T (p.Thr268Ile)
c.716C>T (p.Thr239Ile)
n.616C>T
17g.45996535T>ACA500643994MAPTc.606T>A (p.Thr202=)
c.519T>A (p.Thr173=)
c.693T>A (p.Thr231=)
n.557T>A
c.1869T>A (p.Thr623=)
c.1671T>A (p.Thr557=)
c.1644T>A (p.Thr548=)
c.1698T>A (p.Thr566=)
n.647T>A
n.5978T>A
c.1956T>A (p.Thr652=)
c.1782T>A (p.Thr594=)
c.1758T>A (p.Thr586=)
c.891T>A (p.Thr297=)
c.804T>A (p.Thr268=)
c.717T>A (p.Thr239=)
n.617T>A
17g.45996535T>CCA500643995MAPTc.606T>C (p.Thr202=)
c.519T>C (p.Thr173=)
c.693T>C (p.Thr231=)
n.557T>C
c.1869T>C (p.Thr623=)
c.1671T>C (p.Thr557=)
c.1644T>C (p.Thr548=)
c.1698T>C (p.Thr566=)
n.647T>C
n.5978T>C
c.1956T>C (p.Thr652=)
c.1782T>C (p.Thr594=)
c.1758T>C (p.Thr586=)
c.891T>C (p.Thr297=)
c.804T>C (p.Thr268=)
c.717T>C (p.Thr239=)
n.617T>C
17g.45996535T>GCA500643993MAPTc.606T>G (p.Thr202=)
c.519T>G (p.Thr173=)
c.693T>G (p.Thr231=)
n.557T>G
c.1869T>G (p.Thr623=)
c.1671T>G (p.Thr557=)
c.1644T>G (p.Thr548=)
c.1698T>G (p.Thr566=)
n.647T>G
n.5978T>G
c.1956T>G (p.Thr652=)
c.1782T>G (p.Thr594=)
c.1758T>G (p.Thr586=)
c.891T>G (p.Thr297=)
c.804T>G (p.Thr268=)
c.717T>G (p.Thr239=)
n.617T>G
17g.45996536C>ACA399978206MAPTc.607C>A (p.Pro203Thr)
c.520C>A (p.Pro174Thr)
c.694C>A (p.Pro232Thr)
n.558C>A
c.1870C>A (p.Pro624Thr)
c.1672C>A (p.Pro558Thr)
c.1645C>A (p.Pro549Thr)
c.1699C>A (p.Pro567Thr)
n.648C>A
n.5979C>A
c.1957C>A (p.Pro653Thr)
c.1783C>A (p.Pro595Thr)
c.1759C>A (p.Pro587Thr)
c.892C>A (p.Pro298Thr)
c.805C>A (p.Pro269Thr)
c.718C>A (p.Pro240Thr)
n.618C>A

Number of alleles fetched