Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.45996446T>ACA399978033MAPTc.517T>A (p.Ser173Thr)
c.430T>A (p.Ser144Thr)
c.604T>A (p.Ser202Thr)
n.468T>A
c.1780T>A (p.Ser594Thr)
c.1582T>A (p.Ser528Thr)
c.1555T>A (p.Ser519Thr)
c.1609T>A (p.Ser537Thr)
n.558T>A
n.5889T>A
c.1867T>A (p.Ser623Thr)
c.1693T>A (p.Ser565Thr)
c.1669T>A (p.Ser557Thr)
c.802T>A (p.Ser268Thr)
c.715T>A (p.Ser239Thr)
c.628T>A (p.Ser210Thr)
n.591-63T>A
17g.45996446T>CCA399978034MAPTc.517T>C (p.Ser173Pro)
c.430T>C (p.Ser144Pro)
c.604T>C (p.Ser202Pro)
n.468T>C
c.1780T>C (p.Ser594Pro)
c.1582T>C (p.Ser528Pro)
c.1555T>C (p.Ser519Pro)
c.1609T>C (p.Ser537Pro)
n.558T>C
n.5889T>C
c.1867T>C (p.Ser623Pro)
c.1693T>C (p.Ser565Pro)
c.1669T>C (p.Ser557Pro)
c.802T>C (p.Ser268Pro)
c.715T>C (p.Ser239Pro)
c.628T>C (p.Ser210Pro)
n.591-63T>C
17g.45996446T>GCA399978035MAPTc.517T>G (p.Ser173Ala)
c.430T>G (p.Ser144Ala)
c.604T>G (p.Ser202Ala)
n.468T>G
c.1780T>G (p.Ser594Ala)
c.1582T>G (p.Ser528Ala)
c.1555T>G (p.Ser519Ala)
c.1609T>G (p.Ser537Ala)
n.558T>G
n.5889T>G
c.1867T>G (p.Ser623Ala)
c.1693T>G (p.Ser565Ala)
c.1669T>G (p.Ser557Ala)
c.802T>G (p.Ser268Ala)
c.715T>G (p.Ser239Ala)
c.628T>G (p.Ser210Ala)
n.591-63T>G
17g.45996447C>ACA399978036MAPTc.518C>A (p.Ser173Tyr)
c.431C>A (p.Ser144Tyr)
c.605C>A (p.Ser202Tyr)
n.469C>A
c.1781C>A (p.Ser594Tyr)
c.1583C>A (p.Ser528Tyr)
c.1556C>A (p.Ser519Tyr)
c.1610C>A (p.Ser537Tyr)
n.559C>A
n.5890C>A
c.1868C>A (p.Ser623Tyr)
c.1694C>A (p.Ser565Tyr)
c.1670C>A (p.Ser557Tyr)
c.803C>A (p.Ser268Tyr)
c.716C>A (p.Ser239Tyr)
c.629C>A (p.Ser210Tyr)
n.591-62C>A
17g.45996447C>GCA399978037MAPTc.518C>G (p.Ser173Cys)
c.431C>G (p.Ser144Cys)
c.605C>G (p.Ser202Cys)
n.469C>G
c.1781C>G (p.Ser594Cys)
c.1583C>G (p.Ser528Cys)
c.1556C>G (p.Ser519Cys)
c.1610C>G (p.Ser537Cys)
n.559C>G
n.5890C>G
c.1868C>G (p.Ser623Cys)
c.1694C>G (p.Ser565Cys)
c.1670C>G (p.Ser557Cys)
c.803C>G (p.Ser268Cys)
c.716C>G (p.Ser239Cys)
c.629C>G (p.Ser210Cys)
n.591-62C>G
17g.45996447C>TCA399978038MAPTc.518C>T (p.Ser173Phe)
c.431C>T (p.Ser144Phe)
c.605C>T (p.Ser202Phe)
n.469C>T
c.1781C>T (p.Ser594Phe)
c.1583C>T (p.Ser528Phe)
c.1556C>T (p.Ser519Phe)
c.1610C>T (p.Ser537Phe)
n.559C>T
n.5890C>T
c.1868C>T (p.Ser623Phe)
c.1694C>T (p.Ser565Phe)
c.1670C>T (p.Ser557Phe)
c.803C>T (p.Ser268Phe)
c.716C>T (p.Ser239Phe)
c.629C>T (p.Ser210Phe)
n.591-62C>T
17g.45996450delCA500643922MAPTc.521del (p.Pro174GlnfsTer?)
c.434del (p.Pro145GlnfsTer?)
c.608del (p.Pro203GlnfsTer?)
n.472del
c.1784del (p.Pro595GlnfsTer?)
c.1586del (p.Pro529GlnfsTer?)
c.1559del (p.Pro520GlnfsTer?)
c.1613del (p.Pro538GlnfsTer?)
n.562del
n.5893del
c.1871del (p.Pro624GlnfsTer?)
c.1697del (p.Pro566GlnfsTer?)
c.1673del (p.Pro558GlnfsTer?)
c.806del (p.Pro269GlnfsTer?)
c.719del (p.Pro240GlnfsTer?)
c.632del (p.Pro211GlnfsTer?)
n.591-59del
 COSMIC COSMIC COSMIC COSMIC
17g.45996448C>ACA500643924MAPTc.519C>A (p.Ser173=)
c.432C>A (p.Ser144=)
c.606C>A (p.Ser202=)
n.470C>A
c.1782C>A (p.Ser594=)
c.1584C>A (p.Ser528=)
c.1557C>A (p.Ser519=)
c.1611C>A (p.Ser537=)
n.560C>A
n.5891C>A
c.1869C>A (p.Ser623=)
c.1695C>A (p.Ser565=)
c.1671C>A (p.Ser557=)
c.804C>A (p.Ser268=)
c.717C>A (p.Ser239=)
c.630C>A (p.Ser210=)
n.591-61C>A
17g.45996448C=CA2262094972MAPTc.519C= (p.Ser173=)
c.432C= (p.Ser144=)
c.606C= (p.Ser202=)
n.470C=
c.1782C= (p.Ser594=)
c.1584C= (p.Ser528=)
c.1557C= (p.Ser519=)
c.1611C= (p.Ser537=)
n.560C=
n.5891C=
c.1869C= (p.Ser623=)
c.1695C= (p.Ser565=)
c.1671C= (p.Ser557=)
c.804C= (p.Ser268=)
c.717C= (p.Ser239=)
c.630C= (p.Ser210=)
n.591-61C=
17g.45996448C>GCA500643925MAPTc.519C>G (p.Ser173=)
c.432C>G (p.Ser144=)
c.606C>G (p.Ser202=)
n.470C>G
c.1782C>G (p.Ser594=)
c.1584C>G (p.Ser528=)
c.1557C>G (p.Ser519=)
c.1611C>G (p.Ser537=)
n.560C>G
n.5891C>G
c.1869C>G (p.Ser623=)
c.1695C>G (p.Ser565=)
c.1671C>G (p.Ser557=)
c.804C>G (p.Ser268=)
c.717C>G (p.Ser239=)
c.630C>G (p.Ser210=)
n.591-61C>G
17g.45996448C>TCA500643923MAPTc.519C>T (p.Ser173=)
c.432C>T (p.Ser144=)
c.606C>T (p.Ser202=)
n.470C>T
c.1782C>T (p.Ser594=)
c.1584C>T (p.Ser528=)
c.1557C>T (p.Ser519=)
c.1611C>T (p.Ser537=)
n.560C>T
n.5891C>T
c.1869C>T (p.Ser623=)
c.1695C>T (p.Ser565=)
c.1671C>T (p.Ser557=)
c.804C>T (p.Ser268=)
c.717C>T (p.Ser239=)
c.630C>T (p.Ser210=)
n.591-61C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.45996449C>ACA399978039MAPTc.520C>A (p.Pro174Thr)
c.433C>A (p.Pro145Thr)
c.607C>A (p.Pro203Thr)
n.471C>A
c.1783C>A (p.Pro595Thr)
c.1585C>A (p.Pro529Thr)
c.1558C>A (p.Pro520Thr)
c.1612C>A (p.Pro538Thr)
n.561C>A
n.5892C>A
c.1870C>A (p.Pro624Thr)
c.1696C>A (p.Pro566Thr)
c.1672C>A (p.Pro558Thr)
c.805C>A (p.Pro269Thr)
c.718C>A (p.Pro240Thr)
c.631C>A (p.Pro211Thr)
n.591-60C>A
17g.45996449C>GCA399978040MAPTc.520C>G (p.Pro174Ala)
c.433C>G (p.Pro145Ala)
c.607C>G (p.Pro203Ala)
n.471C>G
c.1783C>G (p.Pro595Ala)
c.1585C>G (p.Pro529Ala)
c.1558C>G (p.Pro520Ala)
c.1612C>G (p.Pro538Ala)
n.561C>G
n.5892C>G
c.1870C>G (p.Pro624Ala)
c.1696C>G (p.Pro566Ala)
c.1672C>G (p.Pro558Ala)
c.805C>G (p.Pro269Ala)
c.718C>G (p.Pro240Ala)
c.631C>G (p.Pro211Ala)
n.591-60C>G
17g.45996449C>TCA399978041MAPTc.520C>T (p.Pro174Ser)
c.433C>T (p.Pro145Ser)
c.607C>T (p.Pro203Ser)
n.471C>T
c.1783C>T (p.Pro595Ser)
c.1585C>T (p.Pro529Ser)
c.1558C>T (p.Pro520Ser)
c.1612C>T (p.Pro538Ser)
n.561C>T
n.5892C>T
c.1870C>T (p.Pro624Ser)
c.1696C>T (p.Pro566Ser)
c.1672C>T (p.Pro558Ser)
c.805C>T (p.Pro269Ser)
c.718C>T (p.Pro240Ser)
c.631C>T (p.Pro211Ser)
n.591-60C>T
17g.45996450C>ACA399978042MAPTc.521C>A (p.Pro174Gln)
c.434C>A (p.Pro145Gln)
c.608C>A (p.Pro203Gln)
n.472C>A
c.1784C>A (p.Pro595Gln)
c.1586C>A (p.Pro529Gln)
c.1559C>A (p.Pro520Gln)
c.1613C>A (p.Pro538Gln)
n.562C>A
n.5893C>A
c.1871C>A (p.Pro624Gln)
c.1697C>A (p.Pro566Gln)
c.1673C>A (p.Pro558Gln)
c.806C>A (p.Pro269Gln)
c.719C>A (p.Pro240Gln)
c.632C>A (p.Pro211Gln)
n.591-59C>A
17g.45996450C=CA2262094973MAPTc.521C= (p.Pro174=)
c.434C= (p.Pro145=)
c.608C= (p.Pro203=)
n.472C=
c.1784C= (p.Pro595=)
c.1586C= (p.Pro529=)
c.1559C= (p.Pro520=)
c.1613C= (p.Pro538=)
n.562C=
n.5893C=
c.1871C= (p.Pro624=)
c.1697C= (p.Pro566=)
c.1673C= (p.Pro558=)
c.806C= (p.Pro269=)
c.719C= (p.Pro240=)
c.632C= (p.Pro211=)
n.591-59C=
17g.45996450C>GCA399978043MAPTc.521C>G (p.Pro174Arg)
c.434C>G (p.Pro145Arg)
c.608C>G (p.Pro203Arg)
n.472C>G
c.1784C>G (p.Pro595Arg)
c.1586C>G (p.Pro529Arg)
c.1559C>G (p.Pro520Arg)
c.1613C>G (p.Pro538Arg)
n.562C>G
n.5893C>G
c.1871C>G (p.Pro624Arg)
c.1697C>G (p.Pro566Arg)
c.1673C>G (p.Pro558Arg)
c.806C>G (p.Pro269Arg)
c.719C>G (p.Pro240Arg)
c.632C>G (p.Pro211Arg)
n.591-59C>G
17g.45996450C>TCA291107181MAPTc.521C>T (p.Pro174Leu)
c.434C>T (p.Pro145Leu)
c.608C>T (p.Pro203Leu)
n.472C>T
c.1784C>T (p.Pro595Leu)
c.1586C>T (p.Pro529Leu)
c.1559C>T (p.Pro520Leu)
c.1613C>T (p.Pro538Leu)
n.562C>T
n.5893C>T
c.1871C>T (p.Pro624Leu)
c.1697C>T (p.Pro566Leu)
c.1673C>T (p.Pro558Leu)
c.806C>T (p.Pro269Leu)
c.719C>T (p.Pro240Leu)
c.632C>T (p.Pro211Leu)
n.591-59C>T
 dbSNP
17g.45996451A=CA2262094974MAPTc.522A= (p.Pro174=)
c.435A= (p.Pro145=)
c.609A= (p.Pro203=)
n.473A=
c.1785A= (p.Pro595=)
c.1587A= (p.Pro529=)
c.1560A= (p.Pro520=)
c.1614A= (p.Pro538=)
n.563A=
n.5894A=
c.1872A= (p.Pro624=)
c.1698A= (p.Pro566=)
c.1674A= (p.Pro558=)
c.807A= (p.Pro269=)
c.720A= (p.Pro240=)
c.633A= (p.Pro211=)
n.591-58A=
17g.45996451A>CCA500643927MAPTc.522A>C (p.Pro174=)
c.435A>C (p.Pro145=)
c.609A>C (p.Pro203=)
n.473A>C
c.1785A>C (p.Pro595=)
c.1587A>C (p.Pro529=)
c.1560A>C (p.Pro520=)
c.1614A>C (p.Pro538=)
n.563A>C
n.5894A>C
c.1872A>C (p.Pro624=)
c.1698A>C (p.Pro566=)
c.1674A>C (p.Pro558=)
c.807A>C (p.Pro269=)
c.720A>C (p.Pro240=)
c.633A>C (p.Pro211=)
n.591-58A>C
 dbSNP gnomAD v3 gnomAD v4
17g.45996451A>GCA8618032MAPTc.522A>G (p.Pro174=)
c.435A>G (p.Pro145=)
c.609A>G (p.Pro203=)
n.473A>G
c.1785A>G (p.Pro595=)
c.1587A>G (p.Pro529=)
c.1560A>G (p.Pro520=)
c.1614A>G (p.Pro538=)
n.563A>G
n.5894A>G
c.1872A>G (p.Pro624=)
c.1698A>G (p.Pro566=)
c.1674A>G (p.Pro558=)
c.807A>G (p.Pro269=)
c.720A>G (p.Pro240=)
c.633A>G (p.Pro211=)
n.591-58A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996451A>TCA500643926MAPTc.522A>T (p.Pro174=)
c.435A>T (p.Pro145=)
c.609A>T (p.Pro203=)
n.473A>T
c.1785A>T (p.Pro595=)
c.1587A>T (p.Pro529=)
c.1560A>T (p.Pro520=)
c.1614A>T (p.Pro538=)
n.563A>T
n.5894A>T
c.1872A>T (p.Pro624=)
c.1698A>T (p.Pro566=)
c.1674A>T (p.Pro558=)
c.807A>T (p.Pro269=)
c.720A>T (p.Pro240=)
c.633A>T (p.Pro211=)
n.591-58A>T
17g.45996452G>ACA8618033MAPTc.523G>A (p.Gly175Ser)
c.436G>A (p.Gly146Ser)
c.610G>A (p.Gly204Ser)
n.474G>A
c.1786G>A (p.Gly596Ser)
c.1588G>A (p.Gly530Ser)
c.1561G>A (p.Gly521Ser)
c.1615G>A (p.Gly539Ser)
n.564G>A
n.5895G>A
c.1873G>A (p.Gly625Ser)
c.1699G>A (p.Gly567Ser)
c.1675G>A (p.Gly559Ser)
c.808G>A (p.Gly270Ser)
c.721G>A (p.Gly241Ser)
c.634G>A (p.Gly212Ser)
n.591-57G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.45996452G>CCA399978045MAPTc.523G>C (p.Gly175Arg)
c.436G>C (p.Gly146Arg)
c.610G>C (p.Gly204Arg)
n.474G>C
c.1786G>C (p.Gly596Arg)
c.1588G>C (p.Gly530Arg)
c.1561G>C (p.Gly521Arg)
c.1615G>C (p.Gly539Arg)
n.564G>C
n.5895G>C
c.1873G>C (p.Gly625Arg)
c.1699G>C (p.Gly567Arg)
c.1675G>C (p.Gly559Arg)
c.808G>C (p.Gly270Arg)
c.721G>C (p.Gly241Arg)
c.634G>C (p.Gly212Arg)
n.591-57G>C
17g.45996452G=CA2262094975MAPTc.523G= (p.Gly175=)
c.436G= (p.Gly146=)
c.610G= (p.Gly204=)
n.474G=
c.1786G= (p.Gly596=)
c.1588G= (p.Gly530=)
c.1561G= (p.Gly521=)
c.1615G= (p.Gly539=)
n.564G=
n.5895G=
c.1873G= (p.Gly625=)
c.1699G= (p.Gly567=)
c.1675G= (p.Gly559=)
c.808G= (p.Gly270=)
c.721G= (p.Gly241=)
c.634G= (p.Gly212=)
n.591-57G=
17g.45996452G>TCA399978044MAPTc.523G>T (p.Gly175Cys)
c.436G>T (p.Gly146Cys)
c.610G>T (p.Gly204Cys)
n.474G>T
c.1786G>T (p.Gly596Cys)
c.1588G>T (p.Gly530Cys)
c.1561G>T (p.Gly521Cys)
c.1615G>T (p.Gly539Cys)
n.564G>T
n.5895G>T
c.1873G>T (p.Gly625Cys)
c.1699G>T (p.Gly567Cys)
c.1675G>T (p.Gly559Cys)
c.808G>T (p.Gly270Cys)
c.721G>T (p.Gly241Cys)
c.634G>T (p.Gly212Cys)
n.591-57G>T
17g.45996453G>ACA399978046MAPTc.524G>A (p.Gly175Asp)
c.437G>A (p.Gly146Asp)
c.611G>A (p.Gly204Asp)
n.475G>A
c.1787G>A (p.Gly596Asp)
c.1589G>A (p.Gly530Asp)
c.1562G>A (p.Gly521Asp)
c.1616G>A (p.Gly539Asp)
n.565G>A
n.5896G>A
c.1874G>A (p.Gly625Asp)
c.1700G>A (p.Gly567Asp)
c.1676G>A (p.Gly559Asp)
c.809G>A (p.Gly270Asp)
c.722G>A (p.Gly241Asp)
c.635G>A (p.Gly212Asp)
n.591-56G>A
17g.45996453G>CCA399978047MAPTc.524G>C (p.Gly175Ala)
c.437G>C (p.Gly146Ala)
c.611G>C (p.Gly204Ala)
n.475G>C
c.1787G>C (p.Gly596Ala)
c.1589G>C (p.Gly530Ala)
c.1562G>C (p.Gly521Ala)
c.1616G>C (p.Gly539Ala)
n.565G>C
n.5896G>C
c.1874G>C (p.Gly625Ala)
c.1700G>C (p.Gly567Ala)
c.1676G>C (p.Gly559Ala)
c.809G>C (p.Gly270Ala)
c.722G>C (p.Gly241Ala)
c.635G>C (p.Gly212Ala)
n.591-56G>C
17g.45996453G>TCA399978048MAPTc.524G>T (p.Gly175Val)
c.437G>T (p.Gly146Val)
c.611G>T (p.Gly204Val)
n.475G>T
c.1787G>T (p.Gly596Val)
c.1589G>T (p.Gly530Val)
c.1562G>T (p.Gly521Val)
c.1616G>T (p.Gly539Val)
n.565G>T
n.5896G>T
c.1874G>T (p.Gly625Val)
c.1700G>T (p.Gly567Val)
c.1676G>T (p.Gly559Val)
c.809G>T (p.Gly270Val)
c.722G>T (p.Gly241Val)
c.635G>T (p.Gly212Val)
n.591-56G>T
 COSMIC COSMIC
17g.45996454C>ACA500643928MAPTc.525C>A (p.Gly175=)
c.438C>A (p.Gly146=)
c.612C>A (p.Gly204=)
n.476C>A
c.1788C>A (p.Gly596=)
c.1590C>A (p.Gly530=)
c.1563C>A (p.Gly521=)
c.1617C>A (p.Gly539=)
n.566C>A
n.5897C>A
c.1875C>A (p.Gly625=)
c.1701C>A (p.Gly567=)
c.1677C>A (p.Gly559=)
c.810C>A (p.Gly270=)
c.723C>A (p.Gly241=)
c.636C>A (p.Gly212=)
n.591-55C>A
17g.45996454C=CA2262094976MAPTc.525C= (p.Gly175=)
c.438C= (p.Gly146=)
c.612C= (p.Gly204=)
n.476C=
c.1788C= (p.Gly596=)
c.1590C= (p.Gly530=)
c.1563C= (p.Gly521=)
c.1617C= (p.Gly539=)
n.566C=
n.5897C=
c.1875C= (p.Gly625=)
c.1701C= (p.Gly567=)
c.1677C= (p.Gly559=)
c.810C= (p.Gly270=)
c.723C= (p.Gly241=)
c.636C= (p.Gly212=)
n.591-55C=
17g.45996454C>GCA500643929MAPTc.525C>G (p.Gly175=)
c.438C>G (p.Gly146=)
c.612C>G (p.Gly204=)
n.476C>G
c.1788C>G (p.Gly596=)
c.1590C>G (p.Gly530=)
c.1563C>G (p.Gly521=)
c.1617C>G (p.Gly539=)
n.566C>G
n.5897C>G
c.1875C>G (p.Gly625=)
c.1701C>G (p.Gly567=)
c.1677C>G (p.Gly559=)
c.810C>G (p.Gly270=)
c.723C>G (p.Gly241=)
c.636C>G (p.Gly212=)
n.591-55C>G
17g.45996454C>TCA291107182MAPTc.525C>T (p.Gly175=)
c.438C>T (p.Gly146=)
c.612C>T (p.Gly204=)
n.476C>T
c.1788C>T (p.Gly596=)
c.1590C>T (p.Gly530=)
c.1563C>T (p.Gly521=)
c.1617C>T (p.Gly539=)
n.566C>T
n.5897C>T
c.1875C>T (p.Gly625=)
c.1701C>T (p.Gly567=)
c.1677C>T (p.Gly559=)
c.810C>T (p.Gly270=)
c.723C>T (p.Gly241=)
c.636C>T (p.Gly212=)
n.591-55C>T
 dbSNP gnomAD v4
17g.45996455A>CCA399978049MAPTc.526A>C (p.Thr176Pro)
c.439A>C (p.Thr147Pro)
c.613A>C (p.Thr205Pro)
n.477A>C
c.1789A>C (p.Thr597Pro)
c.1591A>C (p.Thr531Pro)
c.1564A>C (p.Thr522Pro)
c.1618A>C (p.Thr540Pro)
n.567A>C
n.5898A>C
c.1876A>C (p.Thr626Pro)
c.1702A>C (p.Thr568Pro)
c.1678A>C (p.Thr560Pro)
c.811A>C (p.Thr271Pro)
c.724A>C (p.Thr242Pro)
c.637A>C (p.Thr213Pro)
n.591-54A>C
17g.45996455A>GCA399978050MAPTc.526A>G (p.Thr176Ala)
c.439A>G (p.Thr147Ala)
c.613A>G (p.Thr205Ala)
n.477A>G
c.1789A>G (p.Thr597Ala)
c.1591A>G (p.Thr531Ala)
c.1564A>G (p.Thr522Ala)
c.1618A>G (p.Thr540Ala)
n.567A>G
n.5898A>G
c.1876A>G (p.Thr626Ala)
c.1702A>G (p.Thr568Ala)
c.1678A>G (p.Thr560Ala)
c.811A>G (p.Thr271Ala)
c.724A>G (p.Thr242Ala)
c.637A>G (p.Thr213Ala)
n.591-54A>G
17g.45996455A>TCA399978051MAPTc.526A>T (p.Thr176Ser)
c.439A>T (p.Thr147Ser)
c.613A>T (p.Thr205Ser)
n.477A>T
c.1789A>T (p.Thr597Ser)
c.1591A>T (p.Thr531Ser)
c.1564A>T (p.Thr522Ser)
c.1618A>T (p.Thr540Ser)
n.567A>T
n.5898A>T
c.1876A>T (p.Thr626Ser)
c.1702A>T (p.Thr568Ser)
c.1678A>T (p.Thr560Ser)
c.811A>T (p.Thr271Ser)
c.724A>T (p.Thr242Ser)
c.637A>T (p.Thr213Ser)
n.591-54A>T
17g.45996456C>ACA399978052MAPTc.527C>A (p.Thr176Asn)
c.440C>A (p.Thr147Asn)
c.614C>A (p.Thr205Asn)
n.478C>A
c.1790C>A (p.Thr597Asn)
c.1592C>A (p.Thr531Asn)
c.1565C>A (p.Thr522Asn)
c.1619C>A (p.Thr540Asn)
n.568C>A
n.5899C>A
c.1877C>A (p.Thr626Asn)
c.1703C>A (p.Thr568Asn)
c.1679C>A (p.Thr560Asn)
c.812C>A (p.Thr271Asn)
c.725C>A (p.Thr242Asn)
c.638C>A (p.Thr213Asn)
n.591-53C>A
17g.45996456C=CA2262094977MAPTc.527C= (p.Thr176=)
c.440C= (p.Thr147=)
c.614C= (p.Thr205=)
n.478C=
c.1790C= (p.Thr597=)
c.1592C= (p.Thr531=)
c.1565C= (p.Thr522=)
c.1619C= (p.Thr540=)
n.568C=
n.5899C=
c.1877C= (p.Thr626=)
c.1703C= (p.Thr568=)
c.1679C= (p.Thr560=)
c.812C= (p.Thr271=)
c.725C= (p.Thr242=)
c.638C= (p.Thr213=)
n.591-53C=
17g.45996456C>GCA399978053MAPTc.527C>G (p.Thr176Ser)
c.440C>G (p.Thr147Ser)
c.614C>G (p.Thr205Ser)
n.478C>G
c.1790C>G (p.Thr597Ser)
c.1592C>G (p.Thr531Ser)
c.1565C>G (p.Thr522Ser)
c.1619C>G (p.Thr540Ser)
n.568C>G
n.5899C>G
c.1877C>G (p.Thr626Ser)
c.1703C>G (p.Thr568Ser)
c.1679C>G (p.Thr560Ser)
c.812C>G (p.Thr271Ser)
c.725C>G (p.Thr242Ser)
c.638C>G (p.Thr213Ser)
n.591-53C>G
17g.45996456C>TCA399978054MAPTc.527C>T (p.Thr176Ile)
c.440C>T (p.Thr147Ile)
c.614C>T (p.Thr205Ile)
n.478C>T
c.1790C>T (p.Thr597Ile)
c.1592C>T (p.Thr531Ile)
c.1565C>T (p.Thr522Ile)
c.1619C>T (p.Thr540Ile)
n.568C>T
n.5899C>T
c.1877C>T (p.Thr626Ile)
c.1703C>T (p.Thr568Ile)
c.1679C>T (p.Thr560Ile)
c.812C>T (p.Thr271Ile)
c.725C>T (p.Thr242Ile)
c.638C>T (p.Thr213Ile)
n.591-53C>T
 dbSNP gnomAD v2 gnomAD v4
17g.45996457T>ACA500643931MAPTc.528T>A (p.Thr176=)
c.441T>A (p.Thr147=)
c.615T>A (p.Thr205=)
n.479T>A
c.1791T>A (p.Thr597=)
c.1593T>A (p.Thr531=)
c.1566T>A (p.Thr522=)
c.1620T>A (p.Thr540=)
n.569T>A
n.5900T>A
c.1878T>A (p.Thr626=)
c.1704T>A (p.Thr568=)
c.1680T>A (p.Thr560=)
c.813T>A (p.Thr271=)
c.726T>A (p.Thr242=)
c.639T>A (p.Thr213=)
n.591-52T>A
17g.45996457T>CCA500643932MAPTc.528T>C (p.Thr176=)
c.441T>C (p.Thr147=)
c.615T>C (p.Thr205=)
n.479T>C
c.1791T>C (p.Thr597=)
c.1593T>C (p.Thr531=)
c.1566T>C (p.Thr522=)
c.1620T>C (p.Thr540=)
n.569T>C
n.5900T>C
c.1878T>C (p.Thr626=)
c.1704T>C (p.Thr568=)
c.1680T>C (p.Thr560=)
c.813T>C (p.Thr271=)
c.726T>C (p.Thr242=)
c.639T>C (p.Thr213=)
n.591-52T>C
 gnomAD v4
17g.45996457T>GCA500643930MAPTc.528T>G (p.Thr176=)
c.441T>G (p.Thr147=)
c.615T>G (p.Thr205=)
n.479T>G
c.1791T>G (p.Thr597=)
c.1593T>G (p.Thr531=)
c.1566T>G (p.Thr522=)
c.1620T>G (p.Thr540=)
n.569T>G
n.5900T>G
c.1878T>G (p.Thr626=)
c.1704T>G (p.Thr568=)
c.1680T>G (p.Thr560=)
c.813T>G (p.Thr271=)
c.726T>G (p.Thr242=)
c.639T>G (p.Thr213=)
n.591-52T>G
17g.45996458C>ACA399978057MAPTc.529C>A (p.Pro177Thr)
c.442C>A (p.Pro148Thr)
c.616C>A (p.Pro206Thr)
n.480C>A
c.1792C>A (p.Pro598Thr)
c.1594C>A (p.Pro532Thr)
c.1567C>A (p.Pro523Thr)
c.1621C>A (p.Pro541Thr)
n.570C>A
n.5901C>A
c.1879C>A (p.Pro627Thr)
c.1705C>A (p.Pro569Thr)
c.1681C>A (p.Pro561Thr)
c.814C>A (p.Pro272Thr)
c.727C>A (p.Pro243Thr)
c.640C>A (p.Pro214Thr)
n.591-51C>A
17g.45996458C>GCA399978056MAPTc.529C>G (p.Pro177Ala)
c.442C>G (p.Pro148Ala)
c.616C>G (p.Pro206Ala)
n.480C>G
c.1792C>G (p.Pro598Ala)
c.1594C>G (p.Pro532Ala)
c.1567C>G (p.Pro523Ala)
c.1621C>G (p.Pro541Ala)
n.570C>G
n.5901C>G
c.1879C>G (p.Pro627Ala)
c.1705C>G (p.Pro569Ala)
c.1681C>G (p.Pro561Ala)
c.814C>G (p.Pro272Ala)
c.727C>G (p.Pro243Ala)
c.640C>G (p.Pro214Ala)
n.591-51C>G
17g.45996458C>TCA399978055MAPTc.529C>T (p.Pro177Ser)
c.442C>T (p.Pro148Ser)
c.616C>T (p.Pro206Ser)
n.480C>T
c.1792C>T (p.Pro598Ser)
c.1594C>T (p.Pro532Ser)
c.1567C>T (p.Pro523Ser)
c.1621C>T (p.Pro541Ser)
n.570C>T
n.5901C>T
c.1879C>T (p.Pro627Ser)
c.1705C>T (p.Pro569Ser)
c.1681C>T (p.Pro561Ser)
c.814C>T (p.Pro272Ser)
c.727C>T (p.Pro243Ser)
c.640C>T (p.Pro214Ser)
n.591-51C>T
17g.45996459C>ACA399978058MAPTc.530C>A (p.Pro177His)
c.443C>A (p.Pro148His)
c.617C>A (p.Pro206His)
n.481C>A
c.1793C>A (p.Pro598His)
c.1595C>A (p.Pro532His)
c.1568C>A (p.Pro523His)
c.1622C>A (p.Pro541His)
n.571C>A
n.5902C>A
c.1880C>A (p.Pro627His)
c.1706C>A (p.Pro569His)
c.1682C>A (p.Pro561His)
c.815C>A (p.Pro272His)
c.728C>A (p.Pro243His)
c.641C>A (p.Pro214His)
n.591-50C>A
17g.45996459C>GCA399978059MAPTc.530C>G (p.Pro177Arg)
c.443C>G (p.Pro148Arg)
c.617C>G (p.Pro206Arg)
n.481C>G
c.1793C>G (p.Pro598Arg)
c.1595C>G (p.Pro532Arg)
c.1568C>G (p.Pro523Arg)
c.1622C>G (p.Pro541Arg)
n.571C>G
n.5902C>G
c.1880C>G (p.Pro627Arg)
c.1706C>G (p.Pro569Arg)
c.1682C>G (p.Pro561Arg)
c.815C>G (p.Pro272Arg)
c.728C>G (p.Pro243Arg)
c.641C>G (p.Pro214Arg)
n.591-50C>G
17g.45996459C>TCA399978060MAPTc.530C>T (p.Pro177Leu)
c.443C>T (p.Pro148Leu)
c.617C>T (p.Pro206Leu)
n.481C>T
c.1793C>T (p.Pro598Leu)
c.1595C>T (p.Pro532Leu)
c.1568C>T (p.Pro523Leu)
c.1622C>T (p.Pro541Leu)
n.571C>T
n.5902C>T
c.1880C>T (p.Pro627Leu)
c.1706C>T (p.Pro569Leu)
c.1682C>T (p.Pro561Leu)
c.815C>T (p.Pro272Leu)
c.728C>T (p.Pro243Leu)
c.641C>T (p.Pro214Leu)
n.591-50C>T
17g.45996460C>ACA500643933MAPTc.531C>A (p.Pro177=)
c.444C>A (p.Pro148=)
c.618C>A (p.Pro206=)
n.482C>A
c.1794C>A (p.Pro598=)
c.1596C>A (p.Pro532=)
c.1569C>A (p.Pro523=)
c.1623C>A (p.Pro541=)
n.572C>A
n.5903C>A
c.1881C>A (p.Pro627=)
c.1707C>A (p.Pro569=)
c.1683C>A (p.Pro561=)
c.816C>A (p.Pro272=)
c.729C>A (p.Pro243=)
c.642C>A (p.Pro214=)
n.591-49C>A
17g.45996460C=CA2262094978MAPTc.531C= (p.Pro177=)
c.444C= (p.Pro148=)
c.618C= (p.Pro206=)
n.482C=
c.1794C= (p.Pro598=)
c.1596C= (p.Pro532=)
c.1569C= (p.Pro523=)
c.1623C= (p.Pro541=)
n.572C=
n.5903C=
c.1881C= (p.Pro627=)
c.1707C= (p.Pro569=)
c.1683C= (p.Pro561=)
c.816C= (p.Pro272=)
c.729C= (p.Pro243=)
c.642C= (p.Pro214=)
n.591-49C=
17g.45996460C>GCA500643934MAPTc.531C>G (p.Pro177=)
c.444C>G (p.Pro148=)
c.618C>G (p.Pro206=)
n.482C>G
c.1794C>G (p.Pro598=)
c.1596C>G (p.Pro532=)
c.1569C>G (p.Pro523=)
c.1623C>G (p.Pro541=)
n.572C>G
n.5903C>G
c.1881C>G (p.Pro627=)
c.1707C>G (p.Pro569=)
c.1683C>G (p.Pro561=)
c.816C>G (p.Pro272=)
c.729C>G (p.Pro243=)
c.642C>G (p.Pro214=)
n.591-49C>G
 gnomAD v4
17g.45996460C>TCA8618034MAPTc.531C>T (p.Pro177=)
c.444C>T (p.Pro148=)
c.618C>T (p.Pro206=)
n.482C>T
c.1794C>T (p.Pro598=)
c.1596C>T (p.Pro532=)
c.1569C>T (p.Pro523=)
c.1623C>T (p.Pro541=)
n.572C>T
n.5903C>T
c.1881C>T (p.Pro627=)
c.1707C>T (p.Pro569=)
c.1683C>T (p.Pro561=)
c.816C>T (p.Pro272=)
c.729C>T (p.Pro243=)
c.642C>T (p.Pro214=)
n.591-49C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996461G>ACA8618035MAPTc.532G>A (p.Gly178Ser)
c.445G>A (p.Gly149Ser)
c.619G>A (p.Gly207Ser)
n.483G>A
c.1795G>A (p.Gly599Ser)
c.1597G>A (p.Gly533Ser)
c.1570G>A (p.Gly524Ser)
c.1624G>A (p.Gly542Ser)
n.573G>A
n.5904G>A
c.1882G>A (p.Gly628Ser)
c.1708G>A (p.Gly570Ser)
c.1684G>A (p.Gly562Ser)
c.817G>A (p.Gly273Ser)
c.730G>A (p.Gly244Ser)
c.643G>A (p.Gly215Ser)
n.591-48G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996461G>CCA399978061MAPTc.532G>C (p.Gly178Arg)
c.445G>C (p.Gly149Arg)
c.619G>C (p.Gly207Arg)
n.483G>C
c.1795G>C (p.Gly599Arg)
c.1597G>C (p.Gly533Arg)
c.1570G>C (p.Gly524Arg)
c.1624G>C (p.Gly542Arg)
n.573G>C
n.5904G>C
c.1882G>C (p.Gly628Arg)
c.1708G>C (p.Gly570Arg)
c.1684G>C (p.Gly562Arg)
c.817G>C (p.Gly273Arg)
c.730G>C (p.Gly244Arg)
c.643G>C (p.Gly215Arg)
n.591-48G>C
17g.45996461G=CA2262094979MAPTc.532G= (p.Gly178=)
c.445G= (p.Gly149=)
c.619G= (p.Gly207=)
n.483G=
c.1795G= (p.Gly599=)
c.1597G= (p.Gly533=)
c.1570G= (p.Gly524=)
c.1624G= (p.Gly542=)
n.573G=
n.5904G=
c.1882G= (p.Gly628=)
c.1708G= (p.Gly570=)
c.1684G= (p.Gly562=)
c.817G= (p.Gly273=)
c.730G= (p.Gly244=)
c.643G= (p.Gly215=)
n.591-48G=
17g.45996461G>TCA399978062MAPTc.532G>T (p.Gly178Cys)
c.445G>T (p.Gly149Cys)
c.619G>T (p.Gly207Cys)
n.483G>T
c.1795G>T (p.Gly599Cys)
c.1597G>T (p.Gly533Cys)
c.1570G>T (p.Gly524Cys)
c.1624G>T (p.Gly542Cys)
n.573G>T
n.5904G>T
c.1882G>T (p.Gly628Cys)
c.1708G>T (p.Gly570Cys)
c.1684G>T (p.Gly562Cys)
c.817G>T (p.Gly273Cys)
c.730G>T (p.Gly244Cys)
c.643G>T (p.Gly215Cys)
n.591-48G>T
17g.45996462G>ACA399978063MAPTc.533G>A (p.Gly178Asp)
c.446G>A (p.Gly149Asp)
c.620G>A (p.Gly207Asp)
n.484G>A
c.1796G>A (p.Gly599Asp)
c.1598G>A (p.Gly533Asp)
c.1571G>A (p.Gly524Asp)
c.1625G>A (p.Gly542Asp)
n.574G>A
n.5905G>A
c.1883G>A (p.Gly628Asp)
c.1709G>A (p.Gly570Asp)
c.1685G>A (p.Gly562Asp)
c.818G>A (p.Gly273Asp)
c.731G>A (p.Gly244Asp)
c.644G>A (p.Gly215Asp)
n.591-47G>A
17g.45996462G>CCA399978064MAPTc.533G>C (p.Gly178Ala)
c.446G>C (p.Gly149Ala)
c.620G>C (p.Gly207Ala)
n.484G>C
c.1796G>C (p.Gly599Ala)
c.1598G>C (p.Gly533Ala)
c.1571G>C (p.Gly524Ala)
c.1625G>C (p.Gly542Ala)
n.574G>C
n.5905G>C
c.1883G>C (p.Gly628Ala)
c.1709G>C (p.Gly570Ala)
c.1685G>C (p.Gly562Ala)
c.818G>C (p.Gly273Ala)
c.731G>C (p.Gly244Ala)
c.644G>C (p.Gly215Ala)
n.591-47G>C
 dbSNP gnomAD v2 gnomAD v4
17g.45996462G=CA2262094980MAPTc.533G= (p.Gly178=)
c.446G= (p.Gly149=)
c.620G= (p.Gly207=)
n.484G=
c.1796G= (p.Gly599=)
c.1598G= (p.Gly533=)
c.1571G= (p.Gly524=)
c.1625G= (p.Gly542=)
n.574G=
n.5905G=
c.1883G= (p.Gly628=)
c.1709G= (p.Gly570=)
c.1685G= (p.Gly562=)
c.818G= (p.Gly273=)
c.731G= (p.Gly244=)
c.644G= (p.Gly215=)
n.591-47G=
17g.45996462G>TCA399978065MAPTc.533G>T (p.Gly178Val)
c.446G>T (p.Gly149Val)
c.620G>T (p.Gly207Val)
n.484G>T
c.1796G>T (p.Gly599Val)
c.1598G>T (p.Gly533Val)
c.1571G>T (p.Gly524Val)
c.1625G>T (p.Gly542Val)
n.574G>T
n.5905G>T
c.1883G>T (p.Gly628Val)
c.1709G>T (p.Gly570Val)
c.1685G>T (p.Gly562Val)
c.818G>T (p.Gly273Val)
c.731G>T (p.Gly244Val)
c.644G>T (p.Gly215Val)
n.591-47G>T
 dbSNP gnomAD v2 gnomAD v4
17g.45996463C>ACA500643935MAPTc.534C>A (p.Gly178=)
c.447C>A (p.Gly149=)
c.621C>A (p.Gly207=)
n.485C>A
c.1797C>A (p.Gly599=)
c.1599C>A (p.Gly533=)
c.1572C>A (p.Gly524=)
c.1626C>A (p.Gly542=)
n.575C>A
n.5906C>A
c.1884C>A (p.Gly628=)
c.1710C>A (p.Gly570=)
c.1686C>A (p.Gly562=)
c.819C>A (p.Gly273=)
c.732C>A (p.Gly244=)
c.645C>A (p.Gly215=)
n.591-46C>A
17g.45996463C>GCA500643936MAPTc.534C>G (p.Gly178=)
c.447C>G (p.Gly149=)
c.621C>G (p.Gly207=)
n.485C>G
c.1797C>G (p.Gly599=)
c.1599C>G (p.Gly533=)
c.1572C>G (p.Gly524=)
c.1626C>G (p.Gly542=)
n.575C>G
n.5906C>G
c.1884C>G (p.Gly628=)
c.1710C>G (p.Gly570=)
c.1686C>G (p.Gly562=)
c.819C>G (p.Gly273=)
c.732C>G (p.Gly244=)
c.645C>G (p.Gly215=)
n.591-46C>G
17g.45996463C>TCA500643937MAPTc.534C>T (p.Gly178=)
c.447C>T (p.Gly149=)
c.621C>T (p.Gly207=)
n.485C>T
c.1797C>T (p.Gly599=)
c.1599C>T (p.Gly533=)
c.1572C>T (p.Gly524=)
c.1626C>T (p.Gly542=)
n.575C>T
n.5906C>T
c.1884C>T (p.Gly628=)
c.1710C>T (p.Gly570=)
c.1686C>T (p.Gly562=)
c.819C>T (p.Gly273=)
c.732C>T (p.Gly244=)
c.645C>T (p.Gly215=)
n.591-46C>T
17g.45996464A=CA2262094981MAPTc.535A= (p.Ser179=)
c.448A= (p.Ser150=)
c.622A= (p.Ser208=)
n.486A=
c.1798A= (p.Ser600=)
c.1600A= (p.Ser534=)
c.1573A= (p.Ser525=)
c.1627A= (p.Ser543=)
n.576A=
n.5907A=
c.1885A= (p.Ser629=)
c.1711A= (p.Ser571=)
c.1687A= (p.Ser563=)
c.820A= (p.Ser274=)
c.733A= (p.Ser245=)
c.646A= (p.Ser216=)
n.591-45A=
17g.45996464A>CCA399978066MAPTc.535A>C (p.Ser179Arg)
c.448A>C (p.Ser150Arg)
c.622A>C (p.Ser208Arg)
n.486A>C
c.1798A>C (p.Ser600Arg)
c.1600A>C (p.Ser534Arg)
c.1573A>C (p.Ser525Arg)
c.1627A>C (p.Ser543Arg)
n.576A>C
n.5907A>C
c.1885A>C (p.Ser629Arg)
c.1711A>C (p.Ser571Arg)
c.1687A>C (p.Ser563Arg)
c.820A>C (p.Ser274Arg)
c.733A>C (p.Ser245Arg)
c.646A>C (p.Ser216Arg)
n.591-45A>C
17g.45996464A>GCA399978067MAPTc.535A>G (p.Ser179Gly)
c.448A>G (p.Ser150Gly)
c.622A>G (p.Ser208Gly)
n.486A>G
c.1798A>G (p.Ser600Gly)
c.1600A>G (p.Ser534Gly)
c.1573A>G (p.Ser525Gly)
c.1627A>G (p.Ser543Gly)
n.576A>G
n.5907A>G
c.1885A>G (p.Ser629Gly)
c.1711A>G (p.Ser571Gly)
c.1687A>G (p.Ser563Gly)
c.820A>G (p.Ser274Gly)
c.733A>G (p.Ser245Gly)
c.646A>G (p.Ser216Gly)
n.591-45A>G
17g.45996464A>TCA399978068MAPTc.535A>T (p.Ser179Cys)
c.448A>T (p.Ser150Cys)
c.622A>T (p.Ser208Cys)
n.486A>T
c.1798A>T (p.Ser600Cys)
c.1600A>T (p.Ser534Cys)
c.1573A>T (p.Ser525Cys)
c.1627A>T (p.Ser543Cys)
n.576A>T
n.5907A>T
c.1885A>T (p.Ser629Cys)
c.1711A>T (p.Ser571Cys)
c.1687A>T (p.Ser563Cys)
c.820A>T (p.Ser274Cys)
c.733A>T (p.Ser245Cys)
c.646A>T (p.Ser216Cys)
n.591-45A>T
 dbSNP
17g.45996465G>ACA399978071MAPTc.536G>A (p.Ser179Asn)
c.449G>A (p.Ser150Asn)
c.623G>A (p.Ser208Asn)
n.487G>A
c.1799G>A (p.Ser600Asn)
c.1601G>A (p.Ser534Asn)
c.1574G>A (p.Ser525Asn)
c.1628G>A (p.Ser543Asn)
n.577G>A
n.5908G>A
c.1886G>A (p.Ser629Asn)
c.1712G>A (p.Ser571Asn)
c.1688G>A (p.Ser563Asn)
c.821G>A (p.Ser274Asn)
c.734G>A (p.Ser245Asn)
c.647G>A (p.Ser216Asn)
n.591-44G>A
17g.45996465G>CCA399978069MAPTc.536G>C (p.Ser179Thr)
c.449G>C (p.Ser150Thr)
c.623G>C (p.Ser208Thr)
n.487G>C
c.1799G>C (p.Ser600Thr)
c.1601G>C (p.Ser534Thr)
c.1574G>C (p.Ser525Thr)
c.1628G>C (p.Ser543Thr)
n.577G>C
n.5908G>C
c.1886G>C (p.Ser629Thr)
c.1712G>C (p.Ser571Thr)
c.1688G>C (p.Ser563Thr)
c.821G>C (p.Ser274Thr)
c.734G>C (p.Ser245Thr)
c.647G>C (p.Ser216Thr)
n.591-44G>C
17g.45996465G>TCA399978070MAPTc.536G>T (p.Ser179Ile)
c.449G>T (p.Ser150Ile)
c.623G>T (p.Ser208Ile)
n.487G>T
c.1799G>T (p.Ser600Ile)
c.1601G>T (p.Ser534Ile)
c.1574G>T (p.Ser525Ile)
c.1628G>T (p.Ser543Ile)
n.577G>T
n.5908G>T
c.1886G>T (p.Ser629Ile)
c.1712G>T (p.Ser571Ile)
c.1688G>T (p.Ser563Ile)
c.821G>T (p.Ser274Ile)
c.734G>T (p.Ser245Ile)
c.647G>T (p.Ser216Ile)
n.591-44G>T
17g.45996466C>ACA399978072MAPTc.537C>A (p.Ser179Arg)
c.450C>A (p.Ser150Arg)
c.624C>A (p.Ser208Arg)
n.488C>A
c.1800C>A (p.Ser600Arg)
c.1602C>A (p.Ser534Arg)
c.1575C>A (p.Ser525Arg)
c.1629C>A (p.Ser543Arg)
n.578C>A
n.5909C>A
c.1887C>A (p.Ser629Arg)
c.1713C>A (p.Ser571Arg)
c.1689C>A (p.Ser563Arg)
c.822C>A (p.Ser274Arg)
c.735C>A (p.Ser245Arg)
c.648C>A (p.Ser216Arg)
n.591-43C>A
17g.45996466C>GCA399978073MAPTc.537C>G (p.Ser179Arg)
c.450C>G (p.Ser150Arg)
c.624C>G (p.Ser208Arg)
n.488C>G
c.1800C>G (p.Ser600Arg)
c.1602C>G (p.Ser534Arg)
c.1575C>G (p.Ser525Arg)
c.1629C>G (p.Ser543Arg)
n.578C>G
n.5909C>G
c.1887C>G (p.Ser629Arg)
c.1713C>G (p.Ser571Arg)
c.1689C>G (p.Ser563Arg)
c.822C>G (p.Ser274Arg)
c.735C>G (p.Ser245Arg)
c.648C>G (p.Ser216Arg)
n.591-43C>G
17g.45996466C>TCA500643938MAPTc.537C>T (p.Ser179=)
c.450C>T (p.Ser150=)
c.624C>T (p.Ser208=)
n.488C>T
c.1800C>T (p.Ser600=)
c.1602C>T (p.Ser534=)
c.1575C>T (p.Ser525=)
c.1629C>T (p.Ser543=)
n.578C>T
n.5909C>T
c.1887C>T (p.Ser629=)
c.1713C>T (p.Ser571=)
c.1689C>T (p.Ser563=)
c.822C>T (p.Ser274=)
c.735C>T (p.Ser245=)
c.648C>T (p.Ser216=)
n.591-43C>T
17g.45996467C>ACA399978074MAPTc.538C>A (p.Arg180Ser)
c.451C>A (p.Arg151Ser)
c.625C>A (p.Arg209Ser)
n.489C>A
c.1801C>A (p.Arg601Ser)
c.1603C>A (p.Arg535Ser)
c.1576C>A (p.Arg526Ser)
c.1630C>A (p.Arg544Ser)
n.579C>A
n.5910C>A
c.1888C>A (p.Arg630Ser)
c.1714C>A (p.Arg572Ser)
c.1690C>A (p.Arg564Ser)
c.823C>A (p.Arg275Ser)
c.736C>A (p.Arg246Ser)
c.649C>A (p.Arg217Ser)
n.591-42C>A
 dbSNP gnomAD v3 gnomAD v4
17g.45996467C=CA2262094982MAPTc.538C= (p.Arg180=)
c.451C= (p.Arg151=)
c.625C= (p.Arg209=)
n.489C=
c.1801C= (p.Arg601=)
c.1603C= (p.Arg535=)
c.1576C= (p.Arg526=)
c.1630C= (p.Arg544=)
n.579C=
n.5910C=
c.1888C= (p.Arg630=)
c.1714C= (p.Arg572=)
c.1690C= (p.Arg564=)
c.823C= (p.Arg275=)
c.736C= (p.Arg246=)
c.649C= (p.Arg217=)
n.591-42C=
17g.45996467C>GCA399978075MAPTc.538C>G (p.Arg180Gly)
c.451C>G (p.Arg151Gly)
c.625C>G (p.Arg209Gly)
n.489C>G
c.1801C>G (p.Arg601Gly)
c.1603C>G (p.Arg535Gly)
c.1576C>G (p.Arg526Gly)
c.1630C>G (p.Arg544Gly)
n.579C>G
n.5910C>G
c.1888C>G (p.Arg630Gly)
c.1714C>G (p.Arg572Gly)
c.1690C>G (p.Arg564Gly)
c.823C>G (p.Arg275Gly)
c.736C>G (p.Arg246Gly)
c.649C>G (p.Arg217Gly)
n.591-42C>G
17g.45996467C>TCA8618036MAPTc.538C>T (p.Arg180Cys)
c.451C>T (p.Arg151Cys)
c.625C>T (p.Arg209Cys)
n.489C>T
c.1801C>T (p.Arg601Cys)
c.1603C>T (p.Arg535Cys)
c.1576C>T (p.Arg526Cys)
c.1630C>T (p.Arg544Cys)
n.579C>T
n.5910C>T
c.1888C>T (p.Arg630Cys)
c.1714C>T (p.Arg572Cys)
c.1690C>T (p.Arg564Cys)
c.823C>T (p.Arg275Cys)
c.736C>T (p.Arg246Cys)
c.649C>T (p.Arg217Cys)
n.591-42C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996468G>ACA8618037MAPTc.539G>A (p.Arg180His)
c.452G>A (p.Arg151His)
c.626G>A (p.Arg209His)
n.490G>A
c.1802G>A (p.Arg601His)
c.1604G>A (p.Arg535His)
c.1577G>A (p.Arg526His)
c.1631G>A (p.Arg544His)
n.580G>A
n.5911G>A
c.1889G>A (p.Arg630His)
c.1715G>A (p.Arg572His)
c.1691G>A (p.Arg564His)
c.824G>A (p.Arg275His)
c.737G>A (p.Arg246His)
c.650G>A (p.Arg217His)
n.591-41G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996468G>CCA399978076MAPTc.539G>C (p.Arg180Pro)
c.452G>C (p.Arg151Pro)
c.626G>C (p.Arg209Pro)
n.490G>C
c.1802G>C (p.Arg601Pro)
c.1604G>C (p.Arg535Pro)
c.1577G>C (p.Arg526Pro)
c.1631G>C (p.Arg544Pro)
n.580G>C
n.5911G>C
c.1889G>C (p.Arg630Pro)
c.1715G>C (p.Arg572Pro)
c.1691G>C (p.Arg564Pro)
c.824G>C (p.Arg275Pro)
c.737G>C (p.Arg246Pro)
c.650G>C (p.Arg217Pro)
n.591-41G>C
17g.45996468G=CA2262094983MAPTc.539G= (p.Arg180=)
c.452G= (p.Arg151=)
c.626G= (p.Arg209=)
n.490G=
c.1802G= (p.Arg601=)
c.1604G= (p.Arg535=)
c.1577G= (p.Arg526=)
c.1631G= (p.Arg544=)
n.580G=
n.5911G=
c.1889G= (p.Arg630=)
c.1715G= (p.Arg572=)
c.1691G= (p.Arg564=)
c.824G= (p.Arg275=)
c.737G= (p.Arg246=)
c.650G= (p.Arg217=)
n.591-41G=
17g.45996468G>TCA399978077MAPTc.539G>T (p.Arg180Leu)
c.452G>T (p.Arg151Leu)
c.626G>T (p.Arg209Leu)
n.490G>T
c.1802G>T (p.Arg601Leu)
c.1604G>T (p.Arg535Leu)
c.1577G>T (p.Arg526Leu)
c.1631G>T (p.Arg544Leu)
n.580G>T
n.5911G>T
c.1889G>T (p.Arg630Leu)
c.1715G>T (p.Arg572Leu)
c.1691G>T (p.Arg564Leu)
c.824G>T (p.Arg275Leu)
c.737G>T (p.Arg246Leu)
c.650G>T (p.Arg217Leu)
n.591-41G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.45996469C>ACA500643941MAPTc.540C>A (p.Arg180=)
c.453C>A (p.Arg151=)
c.627C>A (p.Arg209=)
n.491C>A
c.1803C>A (p.Arg601=)
c.1605C>A (p.Arg535=)
c.1578C>A (p.Arg526=)
c.1632C>A (p.Arg544=)
n.581C>A
n.5912C>A
c.1890C>A (p.Arg630=)
c.1716C>A (p.Arg572=)
c.1692C>A (p.Arg564=)
c.825C>A (p.Arg275=)
c.738C>A (p.Arg246=)
c.651C>A (p.Arg217=)
n.591-40C>A
17g.45996469C=CA2262094984MAPTc.540C= (p.Arg180=)
c.453C= (p.Arg151=)
c.627C= (p.Arg209=)
n.491C=
c.1803C= (p.Arg601=)
c.1605C= (p.Arg535=)
c.1578C= (p.Arg526=)
c.1632C= (p.Arg544=)
n.581C=
n.5912C=
c.1890C= (p.Arg630=)
c.1716C= (p.Arg572=)
c.1692C= (p.Arg564=)
c.825C= (p.Arg275=)
c.738C= (p.Arg246=)
c.651C= (p.Arg217=)
n.591-40C=
17g.45996469C>GCA500643940MAPTc.540C>G (p.Arg180=)
c.453C>G (p.Arg151=)
c.627C>G (p.Arg209=)
n.491C>G
c.1803C>G (p.Arg601=)
c.1605C>G (p.Arg535=)
c.1578C>G (p.Arg526=)
c.1632C>G (p.Arg544=)
n.581C>G
n.5912C>G
c.1890C>G (p.Arg630=)
c.1716C>G (p.Arg572=)
c.1692C>G (p.Arg564=)
c.825C>G (p.Arg275=)
c.738C>G (p.Arg246=)
c.651C>G (p.Arg217=)
n.591-40C>G
17g.45996469C>TCA500643939MAPTc.540C>T (p.Arg180=)
c.453C>T (p.Arg151=)
c.627C>T (p.Arg209=)
n.491C>T
c.1803C>T (p.Arg601=)
c.1605C>T (p.Arg535=)
c.1578C>T (p.Arg526=)
c.1632C>T (p.Arg544=)
n.581C>T
n.5912C>T
c.1890C>T (p.Arg630=)
c.1716C>T (p.Arg572=)
c.1692C>T (p.Arg564=)
c.825C>T (p.Arg275=)
c.738C>T (p.Arg246=)
c.651C>T (p.Arg217=)
n.591-40C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.45996470T>ACA399978078MAPTc.541T>A (p.Ser181Thr)
c.454T>A (p.Ser152Thr)
c.628T>A (p.Ser210Thr)
n.492T>A
c.1804T>A (p.Ser602Thr)
c.1606T>A (p.Ser536Thr)
c.1579T>A (p.Ser527Thr)
c.1633T>A (p.Ser545Thr)
n.582T>A
n.5913T>A
c.1891T>A (p.Ser631Thr)
c.1717T>A (p.Ser573Thr)
c.1693T>A (p.Ser565Thr)
c.826T>A (p.Ser276Thr)
c.739T>A (p.Ser247Thr)
c.652T>A (p.Ser218Thr)
n.591-39T>A
17g.45996470T>CCA399978079MAPTc.541T>C (p.Ser181Pro)
c.454T>C (p.Ser152Pro)
c.628T>C (p.Ser210Pro)
n.492T>C
c.1804T>C (p.Ser602Pro)
c.1606T>C (p.Ser536Pro)
c.1579T>C (p.Ser527Pro)
c.1633T>C (p.Ser545Pro)
n.582T>C
n.5913T>C
c.1891T>C (p.Ser631Pro)
c.1717T>C (p.Ser573Pro)
c.1693T>C (p.Ser565Pro)
c.826T>C (p.Ser276Pro)
c.739T>C (p.Ser247Pro)
c.652T>C (p.Ser218Pro)
n.591-39T>C
17g.45996470T>GCA399978080MAPTc.541T>G (p.Ser181Ala)
c.454T>G (p.Ser152Ala)
c.628T>G (p.Ser210Ala)
n.492T>G
c.1804T>G (p.Ser602Ala)
c.1606T>G (p.Ser536Ala)
c.1579T>G (p.Ser527Ala)
c.1633T>G (p.Ser545Ala)
n.582T>G
n.5913T>G
c.1891T>G (p.Ser631Ala)
c.1717T>G (p.Ser573Ala)
c.1693T>G (p.Ser565Ala)
c.826T>G (p.Ser276Ala)
c.739T>G (p.Ser247Ala)
c.652T>G (p.Ser218Ala)
n.591-39T>G
17g.45996471C>ACA399978083MAPTc.542C>A (p.Ser181Tyr)
c.455C>A (p.Ser152Tyr)
c.629C>A (p.Ser210Tyr)
n.493C>A
c.1805C>A (p.Ser602Tyr)
c.1607C>A (p.Ser536Tyr)
c.1580C>A (p.Ser527Tyr)
c.1634C>A (p.Ser545Tyr)
n.583C>A
n.5914C>A
c.1892C>A (p.Ser631Tyr)
c.1718C>A (p.Ser573Tyr)
c.1694C>A (p.Ser565Tyr)
c.827C>A (p.Ser276Tyr)
c.740C>A (p.Ser247Tyr)
c.653C>A (p.Ser218Tyr)
n.591-38C>A
17g.45996471C>GCA399978082MAPTc.542C>G (p.Ser181Cys)
c.455C>G (p.Ser152Cys)
c.629C>G (p.Ser210Cys)
n.493C>G
c.1805C>G (p.Ser602Cys)
c.1607C>G (p.Ser536Cys)
c.1580C>G (p.Ser527Cys)
c.1634C>G (p.Ser545Cys)
n.583C>G
n.5914C>G
c.1892C>G (p.Ser631Cys)
c.1718C>G (p.Ser573Cys)
c.1694C>G (p.Ser565Cys)
c.827C>G (p.Ser276Cys)
c.740C>G (p.Ser247Cys)
c.653C>G (p.Ser218Cys)
n.591-38C>G
17g.45996471C>TCA399978081MAPTc.542C>T (p.Ser181Phe)
c.455C>T (p.Ser152Phe)
c.629C>T (p.Ser210Phe)
n.493C>T
c.1805C>T (p.Ser602Phe)
c.1607C>T (p.Ser536Phe)
c.1580C>T (p.Ser527Phe)
c.1634C>T (p.Ser545Phe)
n.583C>T
n.5914C>T
c.1892C>T (p.Ser631Phe)
c.1718C>T (p.Ser573Phe)
c.1694C>T (p.Ser565Phe)
c.827C>T (p.Ser276Phe)
c.740C>T (p.Ser247Phe)
c.653C>T (p.Ser218Phe)
n.591-38C>T
17g.45996472C>ACA500643944MAPTc.543C>A (p.Ser181=)
c.456C>A (p.Ser152=)
c.630C>A (p.Ser210=)
n.494C>A
c.1806C>A (p.Ser602=)
c.1608C>A (p.Ser536=)
c.1581C>A (p.Ser527=)
c.1635C>A (p.Ser545=)
n.584C>A
n.5915C>A
c.1893C>A (p.Ser631=)
c.1719C>A (p.Ser573=)
c.1695C>A (p.Ser565=)
c.828C>A (p.Ser276=)
c.741C>A (p.Ser247=)
c.654C>A (p.Ser218=)
n.591-37C>A
17g.45996472C>GCA500643943MAPTc.543C>G (p.Ser181=)
c.456C>G (p.Ser152=)
c.630C>G (p.Ser210=)
n.494C>G
c.1806C>G (p.Ser602=)
c.1608C>G (p.Ser536=)
c.1581C>G (p.Ser527=)
c.1635C>G (p.Ser545=)
n.584C>G
n.5915C>G
c.1893C>G (p.Ser631=)
c.1719C>G (p.Ser573=)
c.1695C>G (p.Ser565=)
c.828C>G (p.Ser276=)
c.741C>G (p.Ser247=)
c.654C>G (p.Ser218=)
n.591-37C>G
17g.45996472C>TCA500643942MAPTc.543C>T (p.Ser181=)
c.456C>T (p.Ser152=)
c.630C>T (p.Ser210=)
n.494C>T
c.1806C>T (p.Ser602=)
c.1608C>T (p.Ser536=)
c.1581C>T (p.Ser527=)
c.1635C>T (p.Ser545=)
n.584C>T
n.5915C>T
c.1893C>T (p.Ser631=)
c.1719C>T (p.Ser573=)
c.1695C>T (p.Ser565=)
c.828C>T (p.Ser276=)
c.741C>T (p.Ser247=)
c.654C>T (p.Ser218=)
n.591-37C>T
17g.45996473C>ACA291107183MAPTc.544C>A (p.Arg182Ser)
c.457C>A (p.Arg153Ser)
c.631C>A (p.Arg211Ser)
n.495C>A
c.1807C>A (p.Arg603Ser)
c.1609C>A (p.Arg537Ser)
c.1582C>A (p.Arg528Ser)
c.1636C>A (p.Arg546Ser)
n.585C>A
n.5916C>A
c.1894C>A (p.Arg632Ser)
c.1720C>A (p.Arg574Ser)
c.1696C>A (p.Arg566Ser)
c.829C>A (p.Arg277Ser)
c.742C>A (p.Arg248Ser)
c.655C>A (p.Arg219Ser)
n.591-36C>A
 dbSNP
17g.45996473C=CA2262094985MAPTc.544C= (p.Arg182=)
c.457C= (p.Arg153=)
c.631C= (p.Arg211=)
n.495C=
c.1807C= (p.Arg603=)
c.1609C= (p.Arg537=)
c.1582C= (p.Arg528=)
c.1636C= (p.Arg546=)
n.585C=
n.5916C=
c.1894C= (p.Arg632=)
c.1720C= (p.Arg574=)
c.1696C= (p.Arg566=)
c.829C= (p.Arg277=)
c.742C= (p.Arg248=)
c.655C= (p.Arg219=)
n.591-36C=
17g.45996473C>GCA399978084MAPTc.544C>G (p.Arg182Gly)
c.457C>G (p.Arg153Gly)
c.631C>G (p.Arg211Gly)
n.495C>G
c.1807C>G (p.Arg603Gly)
c.1609C>G (p.Arg537Gly)
c.1582C>G (p.Arg528Gly)
c.1636C>G (p.Arg546Gly)
n.585C>G
n.5916C>G
c.1894C>G (p.Arg632Gly)
c.1720C>G (p.Arg574Gly)
c.1696C>G (p.Arg566Gly)
c.829C>G (p.Arg277Gly)
c.742C>G (p.Arg248Gly)
c.655C>G (p.Arg219Gly)
n.591-36C>G
17g.45996473C>TCA8618038MAPTc.544C>T (p.Arg182Cys)
c.457C>T (p.Arg153Cys)
c.631C>T (p.Arg211Cys)
n.495C>T
c.1807C>T (p.Arg603Cys)
c.1609C>T (p.Arg537Cys)
c.1582C>T (p.Arg528Cys)
c.1636C>T (p.Arg546Cys)
n.585C>T
n.5916C>T
c.1894C>T (p.Arg632Cys)
c.1720C>T (p.Arg574Cys)
c.1696C>T (p.Arg566Cys)
c.829C>T (p.Arg277Cys)
c.742C>T (p.Arg248Cys)
c.655C>T (p.Arg219Cys)
n.591-36C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996474G>ACA8618039MAPTc.545G>A (p.Arg182His)
c.458G>A (p.Arg153His)
c.632G>A (p.Arg211His)
n.496G>A
c.1808G>A (p.Arg603His)
c.1610G>A (p.Arg537His)
c.1583G>A (p.Arg528His)
c.1637G>A (p.Arg546His)
n.586G>A
n.5917G>A
c.1895G>A (p.Arg632His)
c.1721G>A (p.Arg574His)
c.1697G>A (p.Arg566His)
c.830G>A (p.Arg277His)
c.743G>A (p.Arg248His)
c.656G>A (p.Arg219His)
n.591-35G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996474G>CCA399978085MAPTc.545G>C (p.Arg182Pro)
c.458G>C (p.Arg153Pro)
c.632G>C (p.Arg211Pro)
n.496G>C
c.1808G>C (p.Arg603Pro)
c.1610G>C (p.Arg537Pro)
c.1583G>C (p.Arg528Pro)
c.1637G>C (p.Arg546Pro)
n.586G>C
n.5917G>C
c.1895G>C (p.Arg632Pro)
c.1721G>C (p.Arg574Pro)
c.1697G>C (p.Arg566Pro)
c.830G>C (p.Arg277Pro)
c.743G>C (p.Arg248Pro)
c.656G>C (p.Arg219Pro)
n.591-35G>C
17g.45996474G=CA2262094986MAPTc.545G= (p.Arg182=)
c.458G= (p.Arg153=)
c.632G= (p.Arg211=)
n.496G=
c.1808G= (p.Arg603=)
c.1610G= (p.Arg537=)
c.1583G= (p.Arg528=)
c.1637G= (p.Arg546=)
n.586G=
n.5917G=
c.1895G= (p.Arg632=)
c.1721G= (p.Arg574=)
c.1697G= (p.Arg566=)
c.830G= (p.Arg277=)
c.743G= (p.Arg248=)
c.656G= (p.Arg219=)
n.591-35G=
17g.45996474G>TCA399978086MAPTc.545G>T (p.Arg182Leu)
c.458G>T (p.Arg153Leu)
c.632G>T (p.Arg211Leu)
n.496G>T
c.1808G>T (p.Arg603Leu)
c.1610G>T (p.Arg537Leu)
c.1583G>T (p.Arg528Leu)
c.1637G>T (p.Arg546Leu)
n.586G>T
n.5917G>T
c.1895G>T (p.Arg632Leu)
c.1721G>T (p.Arg574Leu)
c.1697G>T (p.Arg566Leu)
c.830G>T (p.Arg277Leu)
c.743G>T (p.Arg248Leu)
c.656G>T (p.Arg219Leu)
n.591-35G>T
17g.45996475C>ACA500643947MAPTc.546C>A (p.Arg182=)
c.459C>A (p.Arg153=)
c.633C>A (p.Arg211=)
n.497C>A
c.1809C>A (p.Arg603=)
c.1611C>A (p.Arg537=)
c.1584C>A (p.Arg528=)
c.1638C>A (p.Arg546=)
n.587C>A
n.5918C>A
c.1896C>A (p.Arg632=)
c.1722C>A (p.Arg574=)
c.1698C>A (p.Arg566=)
c.831C>A (p.Arg277=)
c.744C>A (p.Arg248=)
c.657C>A (p.Arg219=)
n.591-34C>A
 dbSNP
17g.45996475C=CA2262094987MAPTc.546C= (p.Arg182=)
c.459C= (p.Arg153=)
c.633C= (p.Arg211=)
n.497C=
c.1809C= (p.Arg603=)
c.1611C= (p.Arg537=)
c.1584C= (p.Arg528=)
c.1638C= (p.Arg546=)
n.587C=
n.5918C=
c.1896C= (p.Arg632=)
c.1722C= (p.Arg574=)
c.1698C= (p.Arg566=)
c.831C= (p.Arg277=)
c.744C= (p.Arg248=)
c.657C= (p.Arg219=)
n.591-34C=
17g.45996475C>GCA500643945MAPTc.546C>G (p.Arg182=)
c.459C>G (p.Arg153=)
c.633C>G (p.Arg211=)
n.497C>G
c.1809C>G (p.Arg603=)
c.1611C>G (p.Arg537=)
c.1584C>G (p.Arg528=)
c.1638C>G (p.Arg546=)
n.587C>G
n.5918C>G
c.1896C>G (p.Arg632=)
c.1722C>G (p.Arg574=)
c.1698C>G (p.Arg566=)
c.831C>G (p.Arg277=)
c.744C>G (p.Arg248=)
c.657C>G (p.Arg219=)
n.591-34C>G
17g.45996475C>TCA500643946MAPTc.546C>T (p.Arg182=)
c.459C>T (p.Arg153=)
c.633C>T (p.Arg211=)
n.497C>T
c.1809C>T (p.Arg603=)
c.1611C>T (p.Arg537=)
c.1584C>T (p.Arg528=)
c.1638C>T (p.Arg546=)
n.587C>T
n.5918C>T
c.1896C>T (p.Arg632=)
c.1722C>T (p.Arg574=)
c.1698C>T (p.Arg566=)
c.831C>T (p.Arg277=)
c.744C>T (p.Arg248=)
c.657C>T (p.Arg219=)
n.591-34C>T
 gnomAD v4
17g.45996476A>CCA399978087MAPTc.547A>C (p.Thr183Pro)
c.460A>C (p.Thr154Pro)
c.634A>C (p.Thr212Pro)
n.498A>C
c.1810A>C (p.Thr604Pro)
c.1612A>C (p.Thr538Pro)
c.1585A>C (p.Thr529Pro)
c.1639A>C (p.Thr547Pro)
n.588A>C
n.5919A>C
c.1897A>C (p.Thr633Pro)
c.1723A>C (p.Thr575Pro)
c.1699A>C (p.Thr567Pro)
c.832A>C (p.Thr278Pro)
c.745A>C (p.Thr249Pro)
c.658A>C (p.Thr220Pro)
n.591-33A>C
17g.45996476A>GCA399978088MAPTc.547A>G (p.Thr183Ala)
c.460A>G (p.Thr154Ala)
c.634A>G (p.Thr212Ala)
n.498A>G
c.1810A>G (p.Thr604Ala)
c.1612A>G (p.Thr538Ala)
c.1585A>G (p.Thr529Ala)
c.1639A>G (p.Thr547Ala)
n.588A>G
n.5919A>G
c.1897A>G (p.Thr633Ala)
c.1723A>G (p.Thr575Ala)
c.1699A>G (p.Thr567Ala)
c.832A>G (p.Thr278Ala)
c.745A>G (p.Thr249Ala)
c.658A>G (p.Thr220Ala)
n.591-33A>G
17g.45996476A>TCA399978089MAPTc.547A>T (p.Thr183Ser)
c.460A>T (p.Thr154Ser)
c.634A>T (p.Thr212Ser)
n.498A>T
c.1810A>T (p.Thr604Ser)
c.1612A>T (p.Thr538Ser)
c.1585A>T (p.Thr529Ser)
c.1639A>T (p.Thr547Ser)
n.588A>T
n.5919A>T
c.1897A>T (p.Thr633Ser)
c.1723A>T (p.Thr575Ser)
c.1699A>T (p.Thr567Ser)
c.832A>T (p.Thr278Ser)
c.745A>T (p.Thr249Ser)
c.658A>T (p.Thr220Ser)
n.591-33A>T
17g.45996477C>ACA8618040MAPTc.548C>A (p.Thr183Asn)
c.461C>A (p.Thr154Asn)
c.635C>A (p.Thr212Asn)
n.499C>A
c.1811C>A (p.Thr604Asn)
c.1613C>A (p.Thr538Asn)
c.1586C>A (p.Thr529Asn)
c.1640C>A (p.Thr547Asn)
n.589C>A
n.5920C>A
c.1898C>A (p.Thr633Asn)
c.1724C>A (p.Thr575Asn)
c.1700C>A (p.Thr567Asn)
c.833C>A (p.Thr278Asn)
c.746C>A (p.Thr249Asn)
c.659C>A (p.Thr220Asn)
n.591-32C>A
 ClinVar dbSNP ExAC gnomAD v2
17g.45996477C=CA2262094988MAPTc.548C= (p.Thr183=)
c.461C= (p.Thr154=)
c.635C= (p.Thr212=)
n.499C=
c.1811C= (p.Thr604=)
c.1613C= (p.Thr538=)
c.1586C= (p.Thr529=)
c.1640C= (p.Thr547=)
n.589C=
n.5920C=
c.1898C= (p.Thr633=)
c.1724C= (p.Thr575=)
c.1700C= (p.Thr567=)
c.833C= (p.Thr278=)
c.746C= (p.Thr249=)
c.659C= (p.Thr220=)
n.591-32C=
17g.45996477C>GCA399978090MAPTc.548C>G (p.Thr183Ser)
c.461C>G (p.Thr154Ser)
c.635C>G (p.Thr212Ser)
n.499C>G
c.1811C>G (p.Thr604Ser)
c.1613C>G (p.Thr538Ser)
c.1586C>G (p.Thr529Ser)
c.1640C>G (p.Thr547Ser)
n.589C>G
n.5920C>G
c.1898C>G (p.Thr633Ser)
c.1724C>G (p.Thr575Ser)
c.1700C>G (p.Thr567Ser)
c.833C>G (p.Thr278Ser)
c.746C>G (p.Thr249Ser)
c.659C>G (p.Thr220Ser)
n.591-32C>G
 gnomAD v4
17g.45996477C>TCA399978091MAPTc.548C>T (p.Thr183Ile)
c.461C>T (p.Thr154Ile)
c.635C>T (p.Thr212Ile)
n.499C>T
c.1811C>T (p.Thr604Ile)
c.1613C>T (p.Thr538Ile)
c.1586C>T (p.Thr529Ile)
c.1640C>T (p.Thr547Ile)
n.589C>T
n.5920C>T
c.1898C>T (p.Thr633Ile)
c.1724C>T (p.Thr575Ile)
c.1700C>T (p.Thr567Ile)
c.833C>T (p.Thr278Ile)
c.746C>T (p.Thr249Ile)
c.659C>T (p.Thr220Ile)
n.591-32C>T
 dbSNP gnomAD v2 gnomAD v4
17g.45996478C>ACA500643950MAPTc.549C>A (p.Thr183=)
c.462C>A (p.Thr154=)
c.636C>A (p.Thr212=)
n.500C>A
c.1812C>A (p.Thr604=)
c.1614C>A (p.Thr538=)
c.1587C>A (p.Thr529=)
c.1641C>A (p.Thr547=)
n.590C>A
n.5921C>A
c.1899C>A (p.Thr633=)
c.1725C>A (p.Thr575=)
c.1701C>A (p.Thr567=)
c.834C>A (p.Thr278=)
c.747C>A (p.Thr249=)
c.660C>A (p.Thr220=)
n.591-31C>A
17g.45996478C>GCA500643949MAPTc.549C>G (p.Thr183=)
c.462C>G (p.Thr154=)
c.636C>G (p.Thr212=)
n.500C>G
c.1812C>G (p.Thr604=)
c.1614C>G (p.Thr538=)
c.1587C>G (p.Thr529=)
c.1641C>G (p.Thr547=)
n.590C>G
n.5921C>G
c.1899C>G (p.Thr633=)
c.1725C>G (p.Thr575=)
c.1701C>G (p.Thr567=)
c.834C>G (p.Thr278=)
c.747C>G (p.Thr249=)
c.660C>G (p.Thr220=)
n.591-31C>G
17g.45996478C>TCA500643948MAPTc.549C>T (p.Thr183=)
c.462C>T (p.Thr154=)
c.636C>T (p.Thr212=)
n.500C>T
c.1812C>T (p.Thr604=)
c.1614C>T (p.Thr538=)
c.1587C>T (p.Thr529=)
c.1641C>T (p.Thr547=)
n.590C>T
n.5921C>T
c.1899C>T (p.Thr633=)
c.1725C>T (p.Thr575=)
c.1701C>T (p.Thr567=)
c.834C>T (p.Thr278=)
c.747C>T (p.Thr249=)
c.660C>T (p.Thr220=)
n.591-31C>T
17g.45996479C>ACA399978092MAPTc.550C>A (p.Pro184Thr)
c.463C>A (p.Pro155Thr)
c.637C>A (p.Pro213Thr)
n.501C>A
c.1813C>A (p.Pro605Thr)
c.1615C>A (p.Pro539Thr)
c.1588C>A (p.Pro530Thr)
c.1642C>A (p.Pro548Thr)
n.591C>A
n.5922C>A
c.1900C>A (p.Pro634Thr)
c.1726C>A (p.Pro576Thr)
c.1702C>A (p.Pro568Thr)
c.835C>A (p.Pro279Thr)
c.748C>A (p.Pro250Thr)
c.661C>A (p.Pro221Thr)
n.591-30C>A
17g.45996479C>GCA399978093MAPTc.550C>G (p.Pro184Ala)
c.463C>G (p.Pro155Ala)
c.637C>G (p.Pro213Ala)
n.501C>G
c.1813C>G (p.Pro605Ala)
c.1615C>G (p.Pro539Ala)
c.1588C>G (p.Pro530Ala)
c.1642C>G (p.Pro548Ala)
n.591C>G
n.5922C>G
c.1900C>G (p.Pro634Ala)
c.1726C>G (p.Pro576Ala)
c.1702C>G (p.Pro568Ala)
c.835C>G (p.Pro279Ala)
c.748C>G (p.Pro250Ala)
c.661C>G (p.Pro221Ala)
n.591-30C>G
17g.45996479C>TCA399978094MAPTc.550C>T (p.Pro184Ser)
c.463C>T (p.Pro155Ser)
c.637C>T (p.Pro213Ser)
n.501C>T
c.1813C>T (p.Pro605Ser)
c.1615C>T (p.Pro539Ser)
c.1588C>T (p.Pro530Ser)
c.1642C>T (p.Pro548Ser)
n.591C>T
n.5922C>T
c.1900C>T (p.Pro634Ser)
c.1726C>T (p.Pro576Ser)
c.1702C>T (p.Pro568Ser)
c.835C>T (p.Pro279Ser)
c.748C>T (p.Pro250Ser)
c.661C>T (p.Pro221Ser)
n.591-30C>T
 gnomAD v4 COSMIC COSMIC
17g.45996480C>ACA399978095MAPTc.551C>A (p.Pro184Gln)
c.464C>A (p.Pro155Gln)
c.638C>A (p.Pro213Gln)
n.502C>A
c.1814C>A (p.Pro605Gln)
c.1616C>A (p.Pro539Gln)
c.1589C>A (p.Pro530Gln)
c.1643C>A (p.Pro548Gln)
n.592C>A
n.5923C>A
c.1901C>A (p.Pro634Gln)
c.1727C>A (p.Pro576Gln)
c.1703C>A (p.Pro568Gln)
c.836C>A (p.Pro279Gln)
c.749C>A (p.Pro250Gln)
c.662C>A (p.Pro221Gln)
n.591-29C>A
17g.45996480C=CA2262094989MAPTc.551C= (p.Pro184=)
c.464C= (p.Pro155=)
c.638C= (p.Pro213=)
n.502C=
c.1814C= (p.Pro605=)
c.1616C= (p.Pro539=)
c.1589C= (p.Pro530=)
c.1643C= (p.Pro548=)
n.592C=
n.5923C=
c.1901C= (p.Pro634=)
c.1727C= (p.Pro576=)
c.1703C= (p.Pro568=)
c.836C= (p.Pro279=)
c.749C= (p.Pro250=)
c.662C= (p.Pro221=)
n.591-29C=
17g.45996480C>GCA399978097MAPTc.551C>G (p.Pro184Arg)
c.464C>G (p.Pro155Arg)
c.638C>G (p.Pro213Arg)
n.502C>G
c.1814C>G (p.Pro605Arg)
c.1616C>G (p.Pro539Arg)
c.1589C>G (p.Pro530Arg)
c.1643C>G (p.Pro548Arg)
n.592C>G
n.5923C>G
c.1901C>G (p.Pro634Arg)
c.1727C>G (p.Pro576Arg)
c.1703C>G (p.Pro568Arg)
c.836C>G (p.Pro279Arg)
c.749C>G (p.Pro250Arg)
c.662C>G (p.Pro221Arg)
n.591-29C>G
17g.45996480C>TCA399978096MAPTc.551C>T (p.Pro184Leu)
c.464C>T (p.Pro155Leu)
c.638C>T (p.Pro213Leu)
n.502C>T
c.1814C>T (p.Pro605Leu)
c.1616C>T (p.Pro539Leu)
c.1589C>T (p.Pro530Leu)
c.1643C>T (p.Pro548Leu)
n.592C>T
n.5923C>T
c.1901C>T (p.Pro634Leu)
c.1727C>T (p.Pro576Leu)
c.1703C>T (p.Pro568Leu)
c.836C>T (p.Pro279Leu)
c.749C>T (p.Pro250Leu)
c.662C>T (p.Pro221Leu)
n.591-29C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.45996481G>ACA8618041MAPTc.552G>A (p.Pro184=)
c.465G>A (p.Pro155=)
c.639G>A (p.Pro213=)
n.503G>A
c.1815G>A (p.Pro605=)
c.1617G>A (p.Pro539=)
c.1590G>A (p.Pro530=)
c.1644G>A (p.Pro548=)
n.593G>A
n.5924G>A
c.1902G>A (p.Pro634=)
c.1728G>A (p.Pro576=)
c.1704G>A (p.Pro568=)
c.837G>A (p.Pro279=)
c.750G>A (p.Pro250=)
c.663G>A (p.Pro221=)
n.591-28G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996481G>CCA500643952MAPTc.552G>C (p.Pro184=)
c.465G>C (p.Pro155=)
c.639G>C (p.Pro213=)
n.503G>C
c.1815G>C (p.Pro605=)
c.1617G>C (p.Pro539=)
c.1590G>C (p.Pro530=)
c.1644G>C (p.Pro548=)
n.593G>C
n.5924G>C
c.1902G>C (p.Pro634=)
c.1728G>C (p.Pro576=)
c.1704G>C (p.Pro568=)
c.837G>C (p.Pro279=)
c.750G>C (p.Pro250=)
c.663G>C (p.Pro221=)
n.591-28G>C
 gnomAD v4
17g.45996481G=CA2262094990MAPTc.552G= (p.Pro184=)
c.465G= (p.Pro155=)
c.639G= (p.Pro213=)
n.503G=
c.1815G= (p.Pro605=)
c.1617G= (p.Pro539=)
c.1590G= (p.Pro530=)
c.1644G= (p.Pro548=)
n.593G=
n.5924G=
c.1902G= (p.Pro634=)
c.1728G= (p.Pro576=)
c.1704G= (p.Pro568=)
c.837G= (p.Pro279=)
c.750G= (p.Pro250=)
c.663G= (p.Pro221=)
n.591-28G=
17g.45996481G>TCA500643951MAPTc.552G>T (p.Pro184=)
c.465G>T (p.Pro155=)
c.639G>T (p.Pro213=)
n.503G>T
c.1815G>T (p.Pro605=)
c.1617G>T (p.Pro539=)
c.1590G>T (p.Pro530=)
c.1644G>T (p.Pro548=)
n.593G>T
n.5924G>T
c.1902G>T (p.Pro634=)
c.1728G>T (p.Pro576=)
c.1704G>T (p.Pro568=)
c.837G>T (p.Pro279=)
c.750G>T (p.Pro250=)
c.663G>T (p.Pro221=)
n.591-28G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.45996482T>ACA399978098MAPTc.553T>A (p.Ser185Thr)
c.466T>A (p.Ser156Thr)
c.640T>A (p.Ser214Thr)
n.504T>A
c.1816T>A (p.Ser606Thr)
c.1618T>A (p.Ser540Thr)
c.1591T>A (p.Ser531Thr)
c.1645T>A (p.Ser549Thr)
n.594T>A
n.5925T>A
c.1903T>A (p.Ser635Thr)
c.1729T>A (p.Ser577Thr)
c.1705T>A (p.Ser569Thr)
c.838T>A (p.Ser280Thr)
c.751T>A (p.Ser251Thr)
c.664T>A (p.Ser222Thr)
n.591-27T>A
17g.45996482T>CCA399978099MAPTc.553T>C (p.Ser185Pro)
c.466T>C (p.Ser156Pro)
c.640T>C (p.Ser214Pro)
n.504T>C
c.1816T>C (p.Ser606Pro)
c.1618T>C (p.Ser540Pro)
c.1591T>C (p.Ser531Pro)
c.1645T>C (p.Ser549Pro)
n.594T>C
n.5925T>C
c.1903T>C (p.Ser635Pro)
c.1729T>C (p.Ser577Pro)
c.1705T>C (p.Ser569Pro)
c.838T>C (p.Ser280Pro)
c.751T>C (p.Ser251Pro)
c.664T>C (p.Ser222Pro)
n.591-27T>C
17g.45996482T>GCA399978100MAPTc.553T>G (p.Ser185Ala)
c.466T>G (p.Ser156Ala)
c.640T>G (p.Ser214Ala)
n.504T>G
c.1816T>G (p.Ser606Ala)
c.1618T>G (p.Ser540Ala)
c.1591T>G (p.Ser531Ala)
c.1645T>G (p.Ser549Ala)
n.594T>G
n.5925T>G
c.1903T>G (p.Ser635Ala)
c.1729T>G (p.Ser577Ala)
c.1705T>G (p.Ser569Ala)
c.838T>G (p.Ser280Ala)
c.751T>G (p.Ser251Ala)
c.664T>G (p.Ser222Ala)
n.591-27T>G
17g.45996483C>ACA399978101MAPTc.554C>A (p.Ser185Tyr)
c.467C>A (p.Ser156Tyr)
c.641C>A (p.Ser214Tyr)
n.505C>A
c.1817C>A (p.Ser606Tyr)
c.1619C>A (p.Ser540Tyr)
c.1592C>A (p.Ser531Tyr)
c.1646C>A (p.Ser549Tyr)
n.595C>A
n.5926C>A
c.1904C>A (p.Ser635Tyr)
c.1730C>A (p.Ser577Tyr)
c.1706C>A (p.Ser569Tyr)
c.839C>A (p.Ser280Tyr)
c.752C>A (p.Ser251Tyr)
c.665C>A (p.Ser222Tyr)
n.591-26C>A
17g.45996483C>GCA399978102MAPTc.554C>G (p.Ser185Cys)
c.467C>G (p.Ser156Cys)
c.641C>G (p.Ser214Cys)
n.505C>G
c.1817C>G (p.Ser606Cys)
c.1619C>G (p.Ser540Cys)
c.1592C>G (p.Ser531Cys)
c.1646C>G (p.Ser549Cys)
n.595C>G
n.5926C>G
c.1904C>G (p.Ser635Cys)
c.1730C>G (p.Ser577Cys)
c.1706C>G (p.Ser569Cys)
c.839C>G (p.Ser280Cys)
c.752C>G (p.Ser251Cys)
c.665C>G (p.Ser222Cys)
n.591-26C>G
17g.45996483C>TCA399978103MAPTc.554C>T (p.Ser185Phe)
c.467C>T (p.Ser156Phe)
c.641C>T (p.Ser214Phe)
n.505C>T
c.1817C>T (p.Ser606Phe)
c.1619C>T (p.Ser540Phe)
c.1592C>T (p.Ser531Phe)
c.1646C>T (p.Ser549Phe)
n.595C>T
n.5926C>T
c.1904C>T (p.Ser635Phe)
c.1730C>T (p.Ser577Phe)
c.1706C>T (p.Ser569Phe)
c.839C>T (p.Ser280Phe)
c.752C>T (p.Ser251Phe)
c.665C>T (p.Ser222Phe)
n.591-26C>T
17g.45996484C>ACA500643954MAPTc.555C>A (p.Ser185=)
c.468C>A (p.Ser156=)
c.642C>A (p.Ser214=)
n.506C>A
c.1818C>A (p.Ser606=)
c.1620C>A (p.Ser540=)
c.1593C>A (p.Ser531=)
c.1647C>A (p.Ser549=)
n.596C>A
n.5927C>A
c.1905C>A (p.Ser635=)
c.1731C>A (p.Ser577=)
c.1707C>A (p.Ser569=)
c.840C>A (p.Ser280=)
c.753C>A (p.Ser251=)
c.666C>A (p.Ser222=)
n.591-25C>A
17g.45996484C>GCA500643955MAPTc.555C>G (p.Ser185=)
c.468C>G (p.Ser156=)
c.642C>G (p.Ser214=)
n.506C>G
c.1818C>G (p.Ser606=)
c.1620C>G (p.Ser540=)
c.1593C>G (p.Ser531=)
c.1647C>G (p.Ser549=)
n.596C>G
n.5927C>G
c.1905C>G (p.Ser635=)
c.1731C>G (p.Ser577=)
c.1707C>G (p.Ser569=)
c.840C>G (p.Ser280=)
c.753C>G (p.Ser251=)
c.666C>G (p.Ser222=)
n.591-25C>G
17g.45996484C>TCA500643953MAPTc.555C>T (p.Ser185=)
c.468C>T (p.Ser156=)
c.642C>T (p.Ser214=)
n.506C>T
c.1818C>T (p.Ser606=)
c.1620C>T (p.Ser540=)
c.1593C>T (p.Ser531=)
c.1647C>T (p.Ser549=)
n.596C>T
n.5927C>T
c.1905C>T (p.Ser635=)
c.1731C>T (p.Ser577=)
c.1707C>T (p.Ser569=)
c.840C>T (p.Ser280=)
c.753C>T (p.Ser251=)
c.666C>T (p.Ser222=)
n.591-25C>T
17g.45996485C>ACA399978104MAPTc.556C>A (p.Leu186Ile)
c.469C>A (p.Leu157Ile)
c.643C>A (p.Leu215Ile)
n.507C>A
c.1819C>A (p.Leu607Ile)
c.1621C>A (p.Leu541Ile)
c.1594C>A (p.Leu532Ile)
c.1648C>A (p.Leu550Ile)
n.597C>A
n.5928C>A
c.1906C>A (p.Leu636Ile)
c.1732C>A (p.Leu578Ile)
c.1708C>A (p.Leu570Ile)
c.841C>A (p.Leu281Ile)
c.754C>A (p.Leu252Ile)
c.667C>A (p.Leu223Ile)
n.591-24C>A
17g.45996485C>GCA399978105MAPTc.556C>G (p.Leu186Val)
c.469C>G (p.Leu157Val)
c.643C>G (p.Leu215Val)
n.507C>G
c.1819C>G (p.Leu607Val)
c.1621C>G (p.Leu541Val)
c.1594C>G (p.Leu532Val)
c.1648C>G (p.Leu550Val)
n.597C>G
n.5928C>G
c.1906C>G (p.Leu636Val)
c.1732C>G (p.Leu578Val)
c.1708C>G (p.Leu570Val)
c.841C>G (p.Leu281Val)
c.754C>G (p.Leu252Val)
c.667C>G (p.Leu223Val)
n.591-24C>G
17g.45996485C>TCA399978106MAPTc.556C>T (p.Leu186Phe)
c.469C>T (p.Leu157Phe)
c.643C>T (p.Leu215Phe)
n.507C>T
c.1819C>T (p.Leu607Phe)
c.1621C>T (p.Leu541Phe)
c.1594C>T (p.Leu532Phe)
c.1648C>T (p.Leu550Phe)
n.597C>T
n.5928C>T
c.1906C>T (p.Leu636Phe)
c.1732C>T (p.Leu578Phe)
c.1708C>T (p.Leu570Phe)
c.841C>T (p.Leu281Phe)
c.754C>T (p.Leu252Phe)
c.667C>T (p.Leu223Phe)
n.591-24C>T
17g.45996486T>ACA399978108MAPTc.557T>A (p.Leu186His)
c.470T>A (p.Leu157His)
c.644T>A (p.Leu215His)
n.508T>A
c.1820T>A (p.Leu607His)
c.1622T>A (p.Leu541His)
c.1595T>A (p.Leu532His)
c.1649T>A (p.Leu550His)
n.598T>A
n.5929T>A
c.1907T>A (p.Leu636His)
c.1733T>A (p.Leu578His)
c.1709T>A (p.Leu570His)
c.842T>A (p.Leu281His)
c.755T>A (p.Leu252His)
c.668T>A (p.Leu223His)
n.591-23T>A
 gnomAD v3 gnomAD v4
17g.45996486T>CCA399978109MAPTc.557T>C (p.Leu186Pro)
c.470T>C (p.Leu157Pro)
c.644T>C (p.Leu215Pro)
n.508T>C
c.1820T>C (p.Leu607Pro)
c.1622T>C (p.Leu541Pro)
c.1595T>C (p.Leu532Pro)
c.1649T>C (p.Leu550Pro)
n.598T>C
n.5929T>C
c.1907T>C (p.Leu636Pro)
c.1733T>C (p.Leu578Pro)
c.1709T>C (p.Leu570Pro)
c.842T>C (p.Leu281Pro)
c.755T>C (p.Leu252Pro)
c.668T>C (p.Leu223Pro)
n.591-23T>C
17g.45996486T>GCA399978107MAPTc.557T>G (p.Leu186Arg)
c.470T>G (p.Leu157Arg)
c.644T>G (p.Leu215Arg)
n.508T>G
c.1820T>G (p.Leu607Arg)
c.1622T>G (p.Leu541Arg)
c.1595T>G (p.Leu532Arg)
c.1649T>G (p.Leu550Arg)
n.598T>G
n.5929T>G
c.1907T>G (p.Leu636Arg)
c.1733T>G (p.Leu578Arg)
c.1709T>G (p.Leu570Arg)
c.842T>G (p.Leu281Arg)
c.755T>G (p.Leu252Arg)
c.668T>G (p.Leu223Arg)
n.591-23T>G
 gnomAD v4
17g.45996487T>ACA500643956MAPTc.558T>A (p.Leu186=)
c.471T>A (p.Leu157=)
c.645T>A (p.Leu215=)
n.509T>A
c.1821T>A (p.Leu607=)
c.1623T>A (p.Leu541=)
c.1596T>A (p.Leu532=)
c.1650T>A (p.Leu550=)
n.599T>A
n.5930T>A
c.1908T>A (p.Leu636=)
c.1734T>A (p.Leu578=)
c.1710T>A (p.Leu570=)
c.843T>A (p.Leu281=)
c.756T>A (p.Leu252=)
c.669T>A (p.Leu223=)
n.591-22T>A
17g.45996487T>CCA500643957MAPTc.558T>C (p.Leu186=)
c.471T>C (p.Leu157=)
c.645T>C (p.Leu215=)
n.509T>C
c.1821T>C (p.Leu607=)
c.1623T>C (p.Leu541=)
c.1596T>C (p.Leu532=)
c.1650T>C (p.Leu550=)
n.599T>C
n.5930T>C
c.1908T>C (p.Leu636=)
c.1734T>C (p.Leu578=)
c.1710T>C (p.Leu570=)
c.843T>C (p.Leu281=)
c.756T>C (p.Leu252=)
c.669T>C (p.Leu223=)
n.591-22T>C
17g.45996487T>GCA500643958MAPTc.558T>G (p.Leu186=)
c.471T>G (p.Leu157=)
c.645T>G (p.Leu215=)
n.509T>G
c.1821T>G (p.Leu607=)
c.1623T>G (p.Leu541=)
c.1596T>G (p.Leu532=)
c.1650T>G (p.Leu550=)
n.599T>G
n.5930T>G
c.1908T>G (p.Leu636=)
c.1734T>G (p.Leu578=)
c.1710T>G (p.Leu570=)
c.843T>G (p.Leu281=)
c.756T>G (p.Leu252=)
c.669T>G (p.Leu223=)
n.591-22T>G
17g.45996488C>ACA399978110MAPTc.559C>A (p.Pro187Thr)
c.472C>A (p.Pro158Thr)
c.646C>A (p.Pro216Thr)
n.510C>A
c.1822C>A (p.Pro608Thr)
c.1624C>A (p.Pro542Thr)
c.1597C>A (p.Pro533Thr)
c.1651C>A (p.Pro551Thr)
n.600C>A
n.5931C>A
c.1909C>A (p.Pro637Thr)
c.1735C>A (p.Pro579Thr)
c.1711C>A (p.Pro571Thr)
c.844C>A (p.Pro282Thr)
c.757C>A (p.Pro253Thr)
c.670C>A (p.Pro224Thr)
n.591-21C>A
17g.45996488C>GCA399978111MAPTc.559C>G (p.Pro187Ala)
c.472C>G (p.Pro158Ala)
c.646C>G (p.Pro216Ala)
n.510C>G
c.1822C>G (p.Pro608Ala)
c.1624C>G (p.Pro542Ala)
c.1597C>G (p.Pro533Ala)
c.1651C>G (p.Pro551Ala)
n.600C>G
n.5931C>G
c.1909C>G (p.Pro637Ala)
c.1735C>G (p.Pro579Ala)
c.1711C>G (p.Pro571Ala)
c.844C>G (p.Pro282Ala)
c.757C>G (p.Pro253Ala)
c.670C>G (p.Pro224Ala)
n.591-21C>G
17g.45996488C>TCA399978112MAPTc.559C>T (p.Pro187Ser)
c.472C>T (p.Pro158Ser)
c.646C>T (p.Pro216Ser)
n.510C>T
c.1822C>T (p.Pro608Ser)
c.1624C>T (p.Pro542Ser)
c.1597C>T (p.Pro533Ser)
c.1651C>T (p.Pro551Ser)
n.600C>T
n.5931C>T
c.1909C>T (p.Pro637Ser)
c.1735C>T (p.Pro579Ser)
c.1711C>T (p.Pro571Ser)
c.844C>T (p.Pro282Ser)
c.757C>T (p.Pro253Ser)
c.670C>T (p.Pro224Ser)
n.591-21C>T
17g.45996489C>ACA399978113MAPTc.560C>A (p.Pro187Gln)
c.473C>A (p.Pro158Gln)
c.647C>A (p.Pro216Gln)
n.511C>A
c.1823C>A (p.Pro608Gln)
c.1625C>A (p.Pro542Gln)
c.1598C>A (p.Pro533Gln)
c.1652C>A (p.Pro551Gln)
n.601C>A
n.5932C>A
c.1910C>A (p.Pro637Gln)
c.1736C>A (p.Pro579Gln)
c.1712C>A (p.Pro571Gln)
c.845C>A (p.Pro282Gln)
c.758C>A (p.Pro253Gln)
c.671C>A (p.Pro224Gln)
n.591-20C>A
17g.45996489C>GCA399978114MAPTc.560C>G (p.Pro187Arg)
c.473C>G (p.Pro158Arg)
c.647C>G (p.Pro216Arg)
n.511C>G
c.1823C>G (p.Pro608Arg)
c.1625C>G (p.Pro542Arg)
c.1598C>G (p.Pro533Arg)
c.1652C>G (p.Pro551Arg)
n.601C>G
n.5932C>G
c.1910C>G (p.Pro637Arg)
c.1736C>G (p.Pro579Arg)
c.1712C>G (p.Pro571Arg)
c.845C>G (p.Pro282Arg)
c.758C>G (p.Pro253Arg)
c.671C>G (p.Pro224Arg)
n.591-20C>G
17g.45996489C>TCA399978115MAPTc.560C>T (p.Pro187Leu)
c.473C>T (p.Pro158Leu)
c.647C>T (p.Pro216Leu)
n.511C>T
c.1823C>T (p.Pro608Leu)
c.1625C>T (p.Pro542Leu)
c.1598C>T (p.Pro533Leu)
c.1652C>T (p.Pro551Leu)
n.601C>T
n.5932C>T
c.1910C>T (p.Pro637Leu)
c.1736C>T (p.Pro579Leu)
c.1712C>T (p.Pro571Leu)
c.845C>T (p.Pro282Leu)
c.758C>T (p.Pro253Leu)
c.671C>T (p.Pro224Leu)
n.591-20C>T
17g.45996490A>CCA500643959MAPTc.561A>C (p.Pro187=)
c.474A>C (p.Pro158=)
c.648A>C (p.Pro216=)
n.512A>C
c.1824A>C (p.Pro608=)
c.1626A>C (p.Pro542=)
c.1599A>C (p.Pro533=)
c.1653A>C (p.Pro551=)
n.602A>C
n.5933A>C
c.1911A>C (p.Pro637=)
c.1737A>C (p.Pro579=)
c.1713A>C (p.Pro571=)
c.846A>C (p.Pro282=)
c.759A>C (p.Pro253=)
c.672A>C (p.Pro224=)
n.591-19A>C
17g.45996490A>GCA500643961MAPTc.561A>G (p.Pro187=)
c.474A>G (p.Pro158=)
c.648A>G (p.Pro216=)
n.512A>G
c.1824A>G (p.Pro608=)
c.1626A>G (p.Pro542=)
c.1599A>G (p.Pro533=)
c.1653A>G (p.Pro551=)
n.602A>G
n.5933A>G
c.1911A>G (p.Pro637=)
c.1737A>G (p.Pro579=)
c.1713A>G (p.Pro571=)
c.846A>G (p.Pro282=)
c.759A>G (p.Pro253=)
c.672A>G (p.Pro224=)
n.591-19A>G
17g.45996490A>TCA500643960MAPTc.561A>T (p.Pro187=)
c.474A>T (p.Pro158=)
c.648A>T (p.Pro216=)
n.512A>T
c.1824A>T (p.Pro608=)
c.1626A>T (p.Pro542=)
c.1599A>T (p.Pro533=)
c.1653A>T (p.Pro551=)
n.602A>T
n.5933A>T
c.1911A>T (p.Pro637=)
c.1737A>T (p.Pro579=)
c.1713A>T (p.Pro571=)
c.846A>T (p.Pro282=)
c.759A>T (p.Pro253=)
c.672A>T (p.Pro224=)
n.591-19A>T
17g.45996491A>CCA399978116MAPTc.562A>C (p.Thr188Pro)
c.475A>C (p.Thr159Pro)
c.649A>C (p.Thr217Pro)
n.513A>C
c.1825A>C (p.Thr609Pro)
c.1627A>C (p.Thr543Pro)
c.1600A>C (p.Thr534Pro)
c.1654A>C (p.Thr552Pro)
n.603A>C
n.5934A>C
c.1912A>C (p.Thr638Pro)
c.1738A>C (p.Thr580Pro)
c.1714A>C (p.Thr572Pro)
c.847A>C (p.Thr283Pro)
c.760A>C (p.Thr254Pro)
c.673A>C (p.Thr225Pro)
n.591-18A>C
17g.45996491A>GCA399978117MAPTc.562A>G (p.Thr188Ala)
c.475A>G (p.Thr159Ala)
c.649A>G (p.Thr217Ala)
n.513A>G
c.1825A>G (p.Thr609Ala)
c.1627A>G (p.Thr543Ala)
c.1600A>G (p.Thr534Ala)
c.1654A>G (p.Thr552Ala)
n.603A>G
n.5934A>G
c.1912A>G (p.Thr638Ala)
c.1738A>G (p.Thr580Ala)
c.1714A>G (p.Thr572Ala)
c.847A>G (p.Thr283Ala)
c.760A>G (p.Thr254Ala)
c.673A>G (p.Thr225Ala)
n.591-18A>G
17g.45996491A>TCA399978118MAPTc.562A>T (p.Thr188Ser)
c.475A>T (p.Thr159Ser)
c.649A>T (p.Thr217Ser)
n.513A>T
c.1825A>T (p.Thr609Ser)
c.1627A>T (p.Thr543Ser)
c.1600A>T (p.Thr534Ser)
c.1654A>T (p.Thr552Ser)
n.603A>T
n.5934A>T
c.1912A>T (p.Thr638Ser)
c.1738A>T (p.Thr580Ser)
c.1714A>T (p.Thr572Ser)
c.847A>T (p.Thr283Ser)
c.760A>T (p.Thr254Ser)
c.673A>T (p.Thr225Ser)
n.591-18A>T
17g.45996492C>ACA8618043MAPTc.563C>A (p.Thr188Asn)
c.476C>A (p.Thr159Asn)
c.650C>A (p.Thr217Asn)
n.514C>A
c.1826C>A (p.Thr609Asn)
c.1628C>A (p.Thr543Asn)
c.1601C>A (p.Thr534Asn)
c.1655C>A (p.Thr552Asn)
n.604C>A
n.5935C>A
c.1913C>A (p.Thr638Asn)
c.1739C>A (p.Thr580Asn)
c.1715C>A (p.Thr572Asn)
c.848C>A (p.Thr283Asn)
c.761C>A (p.Thr254Asn)
c.674C>A (p.Thr225Asn)
n.591-17C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996492C=CA2262094991MAPTc.563C= (p.Thr188=)
c.476C= (p.Thr159=)
c.650C= (p.Thr217=)
n.514C=
c.1826C= (p.Thr609=)
c.1628C= (p.Thr543=)
c.1601C= (p.Thr534=)
c.1655C= (p.Thr552=)
n.604C=
n.5935C=
c.1913C= (p.Thr638=)
c.1739C= (p.Thr580=)
c.1715C= (p.Thr572=)
c.848C= (p.Thr283=)
c.761C= (p.Thr254=)
c.674C= (p.Thr225=)
n.591-17C=
17g.45996492C>GCA399978119MAPTc.563C>G (p.Thr188Ser)
c.476C>G (p.Thr159Ser)
c.650C>G (p.Thr217Ser)
n.514C>G
c.1826C>G (p.Thr609Ser)
c.1628C>G (p.Thr543Ser)
c.1601C>G (p.Thr534Ser)
c.1655C>G (p.Thr552Ser)
n.604C>G
n.5935C>G
c.1913C>G (p.Thr638Ser)
c.1739C>G (p.Thr580Ser)
c.1715C>G (p.Thr572Ser)
c.848C>G (p.Thr283Ser)
c.761C>G (p.Thr254Ser)
c.674C>G (p.Thr225Ser)
n.591-17C>G
17g.45996492C>TCA8618042MAPTc.563C>T (p.Thr188Ile)
c.476C>T (p.Thr159Ile)
c.650C>T (p.Thr217Ile)
n.514C>T
c.1826C>T (p.Thr609Ile)
c.1628C>T (p.Thr543Ile)
c.1601C>T (p.Thr534Ile)
c.1655C>T (p.Thr552Ile)
n.604C>T
n.5935C>T
c.1913C>T (p.Thr638Ile)
c.1739C>T (p.Thr580Ile)
c.1715C>T (p.Thr572Ile)
c.848C>T (p.Thr283Ile)
c.761C>T (p.Thr254Ile)
c.674C>T (p.Thr225Ile)
n.591-17C>T
 dbSNP ExAC gnomAD v2
17g.45996495dupCA2638372277MAPTc.566dup (p.Pro190ThrfsTer?)
c.479dup (p.Pro161ThrfsTer?)
c.653dup (p.Pro219ThrfsTer?)
n.517dup
c.1829dup (p.Pro611ThrfsTer?)
c.1631dup (p.Pro545ThrfsTer?)
c.1604dup (p.Pro536ThrfsTer?)
c.1658dup (p.Pro554ThrfsTer?)
n.607dup
n.5938dup
c.1916dup (p.Pro640ThrfsTer?)
c.1742dup (p.Pro582ThrfsTer?)
c.1718dup (p.Pro574ThrfsTer?)
c.851dup (p.Pro285ThrfsTer?)
c.764dup (p.Pro256ThrfsTer?)
c.677dup (p.Pro227ThrfsTer?)
n.591-14dup
 gnomAD v4
17g.45996492_45996493insAAACA2809638471MAPTc.563_564insAAA (p.Thr188_Pro189insAsn)
c.476_477insAAA (p.Thr159_Pro160insAsn)
c.650_651insAAA (p.Thr217_Pro218insAsn)
n.514_515insAAA
c.1826_1827insAAA (p.Thr609_Pro610insAsn)
c.1628_1629insAAA (p.Thr543_Pro544insAsn)
c.1601_1602insAAA (p.Thr534_Pro535insAsn)
c.1655_1656insAAA (p.Thr552_Pro553insAsn)
n.604_605insAAA
n.5935_5936insAAA
c.1913_1914insAAA (p.Thr638_Pro639insAsn)
c.1739_1740insAAA (p.Thr580_Pro581insAsn)
c.1715_1716insAAA (p.Thr572_Pro573insAsn)
c.848_849insAAA (p.Thr283_Pro284insAsn)
c.761_762insAAA (p.Thr254_Pro255insAsn)
c.674_675insAAA (p.Thr225_Pro226insAsn)
n.591-17_591-16insAAA
17g.45996493C>ACA500643963MAPTc.564C>A (p.Thr188=)
c.477C>A (p.Thr159=)
c.651C>A (p.Thr217=)
n.515C>A
c.1827C>A (p.Thr609=)
c.1629C>A (p.Thr543=)
c.1602C>A (p.Thr534=)
c.1656C>A (p.Thr552=)
n.605C>A
n.5936C>A
c.1914C>A (p.Thr638=)
c.1740C>A (p.Thr580=)
c.1716C>A (p.Thr572=)
c.849C>A (p.Thr283=)
c.762C>A (p.Thr254=)
c.675C>A (p.Thr225=)
n.591-16C>A
 gnomAD v4
17g.45996493C>GCA500643964MAPTc.564C>G (p.Thr188=)
c.477C>G (p.Thr159=)
c.651C>G (p.Thr217=)
n.515C>G
c.1827C>G (p.Thr609=)
c.1629C>G (p.Thr543=)
c.1602C>G (p.Thr534=)
c.1656C>G (p.Thr552=)
n.605C>G
n.5936C>G
c.1914C>G (p.Thr638=)
c.1740C>G (p.Thr580=)
c.1716C>G (p.Thr572=)
c.849C>G (p.Thr283=)
c.762C>G (p.Thr254=)
c.675C>G (p.Thr225=)
n.591-16C>G
 gnomAD v4
17g.45996493C>TCA500643962MAPTc.564C>T (p.Thr188=)
c.477C>T (p.Thr159=)
c.651C>T (p.Thr217=)
n.515C>T
c.1827C>T (p.Thr609=)
c.1629C>T (p.Thr543=)
c.1602C>T (p.Thr534=)
c.1656C>T (p.Thr552=)
n.605C>T
n.5936C>T
c.1914C>T (p.Thr638=)
c.1740C>T (p.Thr580=)
c.1716C>T (p.Thr572=)
c.849C>T (p.Thr283=)
c.762C>T (p.Thr254=)
c.675C>T (p.Thr225=)
n.591-16C>T
17g.45996494C>ACA399978121MAPTc.565C>A (p.Pro189Thr)
c.478C>A (p.Pro160Thr)
c.652C>A (p.Pro218Thr)
n.516C>A
c.1828C>A (p.Pro610Thr)
c.1630C>A (p.Pro544Thr)
c.1603C>A (p.Pro535Thr)
c.1657C>A (p.Pro553Thr)
n.606C>A
n.5937C>A
c.1915C>A (p.Pro639Thr)
c.1741C>A (p.Pro581Thr)
c.1717C>A (p.Pro573Thr)
c.850C>A (p.Pro284Thr)
c.763C>A (p.Pro255Thr)
c.676C>A (p.Pro226Thr)
n.591-15C>A
17g.45996494C>GCA399978122MAPTc.565C>G (p.Pro189Ala)
c.478C>G (p.Pro160Ala)
c.652C>G (p.Pro218Ala)
n.516C>G
c.1828C>G (p.Pro610Ala)
c.1630C>G (p.Pro544Ala)
c.1603C>G (p.Pro535Ala)
c.1657C>G (p.Pro553Ala)
n.606C>G
n.5937C>G
c.1915C>G (p.Pro639Ala)
c.1741C>G (p.Pro581Ala)
c.1717C>G (p.Pro573Ala)
c.850C>G (p.Pro284Ala)
c.763C>G (p.Pro255Ala)
c.676C>G (p.Pro226Ala)
n.591-15C>G
 gnomAD v4
17g.45996494C>TCA399978120MAPTc.565C>T (p.Pro189Ser)
c.478C>T (p.Pro160Ser)
c.652C>T (p.Pro218Ser)
n.516C>T
c.1828C>T (p.Pro610Ser)
c.1630C>T (p.Pro544Ser)
c.1603C>T (p.Pro535Ser)
c.1657C>T (p.Pro553Ser)
n.606C>T
n.5937C>T
c.1915C>T (p.Pro639Ser)
c.1741C>T (p.Pro581Ser)
c.1717C>T (p.Pro573Ser)
c.850C>T (p.Pro284Ser)
c.763C>T (p.Pro255Ser)
c.676C>T (p.Pro226Ser)
n.591-15C>T
17g.45996495C>ACA399978123MAPTc.566C>A (p.Pro189Gln)
c.479C>A (p.Pro160Gln)
c.653C>A (p.Pro218Gln)
n.517C>A
c.1829C>A (p.Pro610Gln)
c.1631C>A (p.Pro544Gln)
c.1604C>A (p.Pro535Gln)
c.1658C>A (p.Pro553Gln)
n.607C>A
n.5938C>A
c.1916C>A (p.Pro639Gln)
c.1742C>A (p.Pro581Gln)
c.1718C>A (p.Pro573Gln)
c.851C>A (p.Pro284Gln)
c.764C>A (p.Pro255Gln)
c.677C>A (p.Pro226Gln)
n.591-14C>A
17g.45996495C=CA2262094992MAPTc.566C= (p.Pro189=)
c.479C= (p.Pro160=)
c.653C= (p.Pro218=)
n.517C=
c.1829C= (p.Pro610=)
c.1631C= (p.Pro544=)
c.1604C= (p.Pro535=)
c.1658C= (p.Pro553=)
n.607C=
n.5938C=
c.1916C= (p.Pro639=)
c.1742C= (p.Pro581=)
c.1718C= (p.Pro573=)
c.851C= (p.Pro284=)
c.764C= (p.Pro255=)
c.677C= (p.Pro226=)
n.591-14C=
17g.45996495C>GCA399978124MAPTc.566C>G (p.Pro189Arg)
c.479C>G (p.Pro160Arg)
c.653C>G (p.Pro218Arg)
n.517C>G
c.1829C>G (p.Pro610Arg)
c.1631C>G (p.Pro544Arg)
c.1604C>G (p.Pro535Arg)
c.1658C>G (p.Pro553Arg)
n.607C>G
n.5938C>G
c.1916C>G (p.Pro639Arg)
c.1742C>G (p.Pro581Arg)
c.1718C>G (p.Pro573Arg)
c.851C>G (p.Pro284Arg)
c.764C>G (p.Pro255Arg)
c.677C>G (p.Pro226Arg)
n.591-14C>G
17g.45996495C>TCA291107184MAPTc.566C>T (p.Pro189Leu)
c.479C>T (p.Pro160Leu)
c.653C>T (p.Pro218Leu)
n.517C>T
c.1829C>T (p.Pro610Leu)
c.1631C>T (p.Pro544Leu)
c.1604C>T (p.Pro535Leu)
c.1658C>T (p.Pro553Leu)
n.607C>T
n.5938C>T
c.1916C>T (p.Pro639Leu)
c.1742C>T (p.Pro581Leu)
c.1718C>T (p.Pro573Leu)
c.851C>T (p.Pro284Leu)
c.764C>T (p.Pro255Leu)
c.677C>T (p.Pro226Leu)
n.591-14C>T
 dbSNP
17g.45996495_45996496insCAAACACCA2809638472MAPTc.566_567insCAAACAC (p.Pro190LysfsTer?)
c.479_480insCAAACAC (p.Pro161LysfsTer?)
c.653_654insCAAACAC (p.Pro219LysfsTer?)
n.517_518insCAAACAC
c.1829_1830insCAAACAC (p.Pro611LysfsTer?)
c.1631_1632insCAAACAC (p.Pro545LysfsTer?)
c.1604_1605insCAAACAC (p.Pro536LysfsTer?)
c.1658_1659insCAAACAC (p.Pro554LysfsTer?)
n.607_608insCAAACAC
n.5938_5939insCAAACAC
c.1916_1917insCAAACAC (p.Pro640LysfsTer?)
c.1742_1743insCAAACAC (p.Pro582LysfsTer?)
c.1718_1719insCAAACAC (p.Pro574LysfsTer?)
c.851_852insCAAACAC (p.Pro285LysfsTer?)
c.764_765insCAAACAC (p.Pro256LysfsTer?)
c.677_678insCAAACAC (p.Pro227LysfsTer?)
n.591-14_591-13insCAAACAC
17g.45996496A=CA2262094993MAPTc.567A= (p.Pro189=)
c.480A= (p.Pro160=)
c.654A= (p.Pro218=)
n.518A=
c.1830A= (p.Pro610=)
c.1632A= (p.Pro544=)
c.1605A= (p.Pro535=)
c.1659A= (p.Pro553=)
n.608A=
n.5939A=
c.1917A= (p.Pro639=)
c.1743A= (p.Pro581=)
c.1719A= (p.Pro573=)
c.852A= (p.Pro284=)
c.765A= (p.Pro255=)
c.678A= (p.Pro226=)
n.591-13A=
17g.45996496A>CCA500643965MAPTc.567A>C (p.Pro189=)
c.480A>C (p.Pro160=)
c.654A>C (p.Pro218=)
n.518A>C
c.1830A>C (p.Pro610=)
c.1632A>C (p.Pro544=)
c.1605A>C (p.Pro535=)
c.1659A>C (p.Pro553=)
n.608A>C
n.5939A>C
c.1917A>C (p.Pro639=)
c.1743A>C (p.Pro581=)
c.1719A>C (p.Pro573=)
c.852A>C (p.Pro284=)
c.765A>C (p.Pro255=)
c.678A>C (p.Pro226=)
n.591-13A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.45996496A>GCA8618044MAPTc.567A>G (p.Pro189=)
c.480A>G (p.Pro160=)
c.654A>G (p.Pro218=)
n.518A>G
c.1830A>G (p.Pro610=)
c.1632A>G (p.Pro544=)
c.1605A>G (p.Pro535=)
c.1659A>G (p.Pro553=)
n.608A>G
n.5939A>G
c.1917A>G (p.Pro639=)
c.1743A>G (p.Pro581=)
c.1719A>G (p.Pro573=)
c.852A>G (p.Pro284=)
c.765A>G (p.Pro255=)
c.678A>G (p.Pro226=)
n.591-13A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996496A>TCA500643966MAPTc.567A>T (p.Pro189=)
c.480A>T (p.Pro160=)
c.654A>T (p.Pro218=)
n.518A>T
c.1830A>T (p.Pro610=)
c.1632A>T (p.Pro544=)
c.1605A>T (p.Pro535=)
c.1659A>T (p.Pro553=)
n.608A>T
n.5939A>T
c.1917A>T (p.Pro639=)
c.1743A>T (p.Pro581=)
c.1719A>T (p.Pro573=)
c.852A>T (p.Pro284=)
c.765A>T (p.Pro255=)
c.678A>T (p.Pro226=)
n.591-13A>T
17g.45996497C>ACA399978127MAPTc.568C>A (p.Pro190Thr)
c.481C>A (p.Pro161Thr)
c.655C>A (p.Pro219Thr)
n.519C>A
c.1831C>A (p.Pro611Thr)
c.1633C>A (p.Pro545Thr)
c.1606C>A (p.Pro536Thr)
c.1660C>A (p.Pro554Thr)
n.609C>A
n.5940C>A
c.1918C>A (p.Pro640Thr)
c.1744C>A (p.Pro582Thr)
c.1720C>A (p.Pro574Thr)
c.853C>A (p.Pro285Thr)
c.766C>A (p.Pro256Thr)
c.679C>A (p.Pro227Thr)
n.591-12C>A
17g.45996497C=CA2262094994MAPTc.568C= (p.Pro190=)
c.481C= (p.Pro161=)
c.655C= (p.Pro219=)
n.519C=
c.1831C= (p.Pro611=)
c.1633C= (p.Pro545=)
c.1606C= (p.Pro536=)
c.1660C= (p.Pro554=)
n.609C=
n.5940C=
c.1918C= (p.Pro640=)
c.1744C= (p.Pro582=)
c.1720C= (p.Pro574=)
c.853C= (p.Pro285=)
c.766C= (p.Pro256=)
c.679C= (p.Pro227=)
n.591-12C=
17g.45996497C>GCA399978126MAPTc.568C>G (p.Pro190Ala)
c.481C>G (p.Pro161Ala)
c.655C>G (p.Pro219Ala)
n.519C>G
c.1831C>G (p.Pro611Ala)
c.1633C>G (p.Pro545Ala)
c.1606C>G (p.Pro536Ala)
c.1660C>G (p.Pro554Ala)
n.609C>G
n.5940C>G
c.1918C>G (p.Pro640Ala)
c.1744C>G (p.Pro582Ala)
c.1720C>G (p.Pro574Ala)
c.853C>G (p.Pro285Ala)
c.766C>G (p.Pro256Ala)
c.679C>G (p.Pro227Ala)
n.591-12C>G
 gnomAD v4
17g.45996497C>TCA399978125MAPTc.568C>T (p.Pro190Ser)
c.481C>T (p.Pro161Ser)
c.655C>T (p.Pro219Ser)
n.519C>T
c.1831C>T (p.Pro611Ser)
c.1633C>T (p.Pro545Ser)
c.1606C>T (p.Pro536Ser)
c.1660C>T (p.Pro554Ser)
n.609C>T
n.5940C>T
c.1918C>T (p.Pro640Ser)
c.1744C>T (p.Pro582Ser)
c.1720C>T (p.Pro574Ser)
c.853C>T (p.Pro285Ser)
c.766C>T (p.Pro256Ser)
c.679C>T (p.Pro227Ser)
n.591-12C>T
 ClinVar dbSNP
17g.45996498C>ACA399978128MAPTc.569C>A (p.Pro190His)
c.482C>A (p.Pro161His)
c.656C>A (p.Pro219His)
n.520C>A
c.1832C>A (p.Pro611His)
c.1634C>A (p.Pro545His)
c.1607C>A (p.Pro536His)
c.1661C>A (p.Pro554His)
n.610C>A
n.5941C>A
c.1919C>A (p.Pro640His)
c.1745C>A (p.Pro582His)
c.1721C>A (p.Pro574His)
c.854C>A (p.Pro285His)
c.767C>A (p.Pro256His)
c.680C>A (p.Pro227His)
n.591-11C>A
 dbSNP gnomAD v2
17g.45996498C=CA2262094995MAPTc.569C= (p.Pro190=)
c.482C= (p.Pro161=)
c.656C= (p.Pro219=)
n.520C=
c.1832C= (p.Pro611=)
c.1634C= (p.Pro545=)
c.1607C= (p.Pro536=)
c.1661C= (p.Pro554=)
n.610C=
n.5941C=
c.1919C= (p.Pro640=)
c.1745C= (p.Pro582=)
c.1721C= (p.Pro574=)
c.854C= (p.Pro285=)
c.767C= (p.Pro256=)
c.680C= (p.Pro227=)
n.591-11C=
17g.45996498C>GCA399978129MAPTc.569C>G (p.Pro190Arg)
c.482C>G (p.Pro161Arg)
c.656C>G (p.Pro219Arg)
n.520C>G
c.1832C>G (p.Pro611Arg)
c.1634C>G (p.Pro545Arg)
c.1607C>G (p.Pro536Arg)
c.1661C>G (p.Pro554Arg)
n.610C>G
n.5941C>G
c.1919C>G (p.Pro640Arg)
c.1745C>G (p.Pro582Arg)
c.1721C>G (p.Pro574Arg)
c.854C>G (p.Pro285Arg)
c.767C>G (p.Pro256Arg)
c.680C>G (p.Pro227Arg)
n.591-11C>G
17g.45996498C>TCA399978130MAPTc.569C>T (p.Pro190Leu)
c.482C>T (p.Pro161Leu)
c.656C>T (p.Pro219Leu)
n.520C>T
c.1832C>T (p.Pro611Leu)
c.1634C>T (p.Pro545Leu)
c.1607C>T (p.Pro536Leu)
c.1661C>T (p.Pro554Leu)
n.610C>T
n.5941C>T
c.1919C>T (p.Pro640Leu)
c.1745C>T (p.Pro582Leu)
c.1721C>T (p.Pro574Leu)
c.854C>T (p.Pro285Leu)
c.767C>T (p.Pro256Leu)
c.680C>T (p.Pro227Leu)
n.591-11C>T
17g.45996499C>ACA500643967MAPTc.570C>A (p.Pro190=)
c.483C>A (p.Pro161=)
c.657C>A (p.Pro219=)
n.521C>A
c.1833C>A (p.Pro611=)
c.1635C>A (p.Pro545=)
c.1608C>A (p.Pro536=)
c.1662C>A (p.Pro554=)
n.611C>A
n.5942C>A
c.1920C>A (p.Pro640=)
c.1746C>A (p.Pro582=)
c.1722C>A (p.Pro574=)
c.855C>A (p.Pro285=)
c.768C>A (p.Pro256=)
c.681C>A (p.Pro227=)
n.591-10C>A
17g.45996499C=CA2262094996MAPTc.570C= (p.Pro190=)
c.483C= (p.Pro161=)
c.657C= (p.Pro219=)
n.521C=
c.1833C= (p.Pro611=)
c.1635C= (p.Pro545=)
c.1608C= (p.Pro536=)
c.1662C= (p.Pro554=)
n.611C=
n.5942C=
c.1920C= (p.Pro640=)
c.1746C= (p.Pro582=)
c.1722C= (p.Pro574=)
c.855C= (p.Pro285=)
c.768C= (p.Pro256=)
c.681C= (p.Pro227=)
n.591-10C=
17g.45996499C>GCA500643968MAPTc.570C>G (p.Pro190=)
c.483C>G (p.Pro161=)
c.657C>G (p.Pro219=)
n.521C>G
c.1833C>G (p.Pro611=)
c.1635C>G (p.Pro545=)
c.1608C>G (p.Pro536=)
c.1662C>G (p.Pro554=)
n.611C>G
n.5942C>G
c.1920C>G (p.Pro640=)
c.1746C>G (p.Pro582=)
c.1722C>G (p.Pro574=)
c.855C>G (p.Pro285=)
c.768C>G (p.Pro256=)
c.681C>G (p.Pro227=)
n.591-10C>G
 gnomAD v4
17g.45996499C>TCA8618045MAPTc.570C>T (p.Pro190=)
c.483C>T (p.Pro161=)
c.657C>T (p.Pro219=)
n.521C>T
c.1833C>T (p.Pro611=)
c.1635C>T (p.Pro545=)
c.1608C>T (p.Pro536=)
c.1662C>T (p.Pro554=)
n.611C>T
n.5942C>T
c.1920C>T (p.Pro640=)
c.1746C>T (p.Pro582=)
c.1722C>T (p.Pro574=)
c.855C>T (p.Pro285=)
c.768C>T (p.Pro256=)
c.681C>T (p.Pro227=)
n.591-10C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996500_45996501insACACACA2809638476MAPTc.571_572insACACA (p.Thr191AsnfsTer?)
c.484_485insACACA (p.Thr162AsnfsTer?)
c.658_659insACACA (p.Thr220AsnfsTer?)
n.522_523insACACA
c.1834_1835insACACA (p.Thr612AsnfsTer?)
c.1636_1637insACACA (p.Thr546AsnfsTer?)
c.1609_1610insACACA (p.Thr537AsnfsTer?)
c.1663_1664insACACA (p.Thr555AsnfsTer?)
n.612_613insACACA
n.5943_5944insACACA
c.1921_1922insACACA (p.Thr641AsnfsTer?)
c.1747_1748insACACA (p.Thr583AsnfsTer?)
c.1723_1724insACACA (p.Thr575AsnfsTer?)
c.856_857insACACA (p.Thr286AsnfsTer?)
c.769_770insACACA (p.Thr257AsnfsTer?)
c.682_683insACACA (p.Thr228AsnfsTer?)
n.591-9_591-8insACACA
17g.45996500A=CA2262094997MAPTc.571A= (p.Thr191=)
c.484A= (p.Thr162=)
c.658A= (p.Thr220=)
n.522A=
c.1834A= (p.Thr612=)
c.1636A= (p.Thr546=)
c.1609A= (p.Thr537=)
c.1663A= (p.Thr555=)
n.612A=
n.5943A=
c.1921A= (p.Thr641=)
c.1747A= (p.Thr583=)
c.1723A= (p.Thr575=)
c.856A= (p.Thr286=)
c.769A= (p.Thr257=)
c.682A= (p.Thr228=)
n.591-9A=
17g.45996500A>CCA399978131MAPTc.571A>C (p.Thr191Pro)
c.484A>C (p.Thr162Pro)
c.658A>C (p.Thr220Pro)
n.522A>C
c.1834A>C (p.Thr612Pro)
c.1636A>C (p.Thr546Pro)
c.1609A>C (p.Thr537Pro)
c.1663A>C (p.Thr555Pro)
n.612A>C
n.5943A>C
c.1921A>C (p.Thr641Pro)
c.1747A>C (p.Thr583Pro)
c.1723A>C (p.Thr575Pro)
c.856A>C (p.Thr286Pro)
c.769A>C (p.Thr257Pro)
c.682A>C (p.Thr228Pro)
n.591-9A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.45996500A>GCA399978132MAPTc.571A>G (p.Thr191Ala)
c.484A>G (p.Thr162Ala)
c.658A>G (p.Thr220Ala)
n.522A>G
c.1834A>G (p.Thr612Ala)
c.1636A>G (p.Thr546Ala)
c.1609A>G (p.Thr537Ala)
c.1663A>G (p.Thr555Ala)
n.612A>G
n.5943A>G
c.1921A>G (p.Thr641Ala)
c.1747A>G (p.Thr583Ala)
c.1723A>G (p.Thr575Ala)
c.856A>G (p.Thr286Ala)
c.769A>G (p.Thr257Ala)
c.682A>G (p.Thr228Ala)
n.591-9A>G
17g.45996500A>TCA399978133MAPTc.571A>T (p.Thr191Ser)
c.484A>T (p.Thr162Ser)
c.658A>T (p.Thr220Ser)
n.522A>T
c.1834A>T (p.Thr612Ser)
c.1636A>T (p.Thr546Ser)
c.1609A>T (p.Thr537Ser)
c.1663A>T (p.Thr555Ser)
n.612A>T
n.5943A>T
c.1921A>T (p.Thr641Ser)
c.1747A>T (p.Thr583Ser)
c.1723A>T (p.Thr575Ser)
c.856A>T (p.Thr286Ser)
c.769A>T (p.Thr257Ser)
c.682A>T (p.Thr228Ser)
n.591-9A>T
17g.45996501C>ACA399978136MAPTc.572C>A (p.Thr191Asn)
c.485C>A (p.Thr162Asn)
c.659C>A (p.Thr220Asn)
n.523C>A
c.1835C>A (p.Thr612Asn)
c.1637C>A (p.Thr546Asn)
c.1610C>A (p.Thr537Asn)
c.1664C>A (p.Thr555Asn)
n.613C>A
n.5944C>A
c.1922C>A (p.Thr641Asn)
c.1748C>A (p.Thr583Asn)
c.1724C>A (p.Thr575Asn)
c.857C>A (p.Thr286Asn)
c.770C>A (p.Thr257Asn)
c.683C>A (p.Thr228Asn)
n.591-8C>A
17g.45996501C=CA2262094998MAPTc.572C= (p.Thr191=)
c.485C= (p.Thr162=)
c.659C= (p.Thr220=)
n.523C=
c.1835C= (p.Thr612=)
c.1637C= (p.Thr546=)
c.1610C= (p.Thr537=)
c.1664C= (p.Thr555=)
n.613C=
n.5944C=
c.1922C= (p.Thr641=)
c.1748C= (p.Thr583=)
c.1724C= (p.Thr575=)
c.857C= (p.Thr286=)
c.770C= (p.Thr257=)
c.683C= (p.Thr228=)
n.591-8C=
17g.45996501C>GCA399978135MAPTc.572C>G (p.Thr191Ser)
c.485C>G (p.Thr162Ser)
c.659C>G (p.Thr220Ser)
n.523C>G
c.1835C>G (p.Thr612Ser)
c.1637C>G (p.Thr546Ser)
c.1610C>G (p.Thr537Ser)
c.1664C>G (p.Thr555Ser)
n.613C>G
n.5944C>G
c.1922C>G (p.Thr641Ser)
c.1748C>G (p.Thr583Ser)
c.1724C>G (p.Thr575Ser)
c.857C>G (p.Thr286Ser)
c.770C>G (p.Thr257Ser)
c.683C>G (p.Thr228Ser)
n.591-8C>G
17g.45996501C>TCA399978134MAPTc.572C>T (p.Thr191Ile)
c.485C>T (p.Thr162Ile)
c.659C>T (p.Thr220Ile)
n.523C>T
c.1835C>T (p.Thr612Ile)
c.1637C>T (p.Thr546Ile)
c.1610C>T (p.Thr537Ile)
c.1664C>T (p.Thr555Ile)
n.613C>T
n.5944C>T
c.1922C>T (p.Thr641Ile)
c.1748C>T (p.Thr583Ile)
c.1724C>T (p.Thr575Ile)
c.857C>T (p.Thr286Ile)
c.770C>T (p.Thr257Ile)
c.683C>T (p.Thr228Ile)
n.591-8C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.45996502C>ACA500643970MAPTc.573C>A (p.Thr191=)
c.486C>A (p.Thr162=)
c.660C>A (p.Thr220=)
n.524C>A
c.1836C>A (p.Thr612=)
c.1638C>A (p.Thr546=)
c.1611C>A (p.Thr537=)
c.1665C>A (p.Thr555=)
n.614C>A
n.5945C>A
c.1923C>A (p.Thr641=)
c.1749C>A (p.Thr583=)
c.1725C>A (p.Thr575=)
c.858C>A (p.Thr286=)
c.771C>A (p.Thr257=)
c.684C>A (p.Thr228=)
n.591-7C>A
 gnomAD v4
17g.45996502C>GCA500643971MAPTc.573C>G (p.Thr191=)
c.486C>G (p.Thr162=)
c.660C>G (p.Thr220=)
n.524C>G
c.1836C>G (p.Thr612=)
c.1638C>G (p.Thr546=)
c.1611C>G (p.Thr537=)
c.1665C>G (p.Thr555=)
n.614C>G
n.5945C>G
c.1923C>G (p.Thr641=)
c.1749C>G (p.Thr583=)
c.1725C>G (p.Thr575=)
c.858C>G (p.Thr286=)
c.771C>G (p.Thr257=)
c.684C>G (p.Thr228=)
n.591-7C>G
17g.45996502C>TCA500643969MAPTc.573C>T (p.Thr191=)
c.486C>T (p.Thr162=)
c.660C>T (p.Thr220=)
n.524C>T
c.1836C>T (p.Thr612=)
c.1638C>T (p.Thr546=)
c.1611C>T (p.Thr537=)
c.1665C>T (p.Thr555=)
n.614C>T
n.5945C>T
c.1923C>T (p.Thr641=)
c.1749C>T (p.Thr583=)
c.1725C>T (p.Thr575=)
c.858C>T (p.Thr286=)
c.771C>T (p.Thr257=)
c.684C>T (p.Thr228=)
n.591-7C>T
17g.45996503C>ACA500643972MAPTc.574C>A (p.Arg192=)
c.487C>A (p.Arg163=)
c.661C>A (p.Arg221=)
n.525C>A
c.1837C>A (p.Arg613=)
c.1639C>A (p.Arg547=)
c.1612C>A (p.Arg538=)
c.1666C>A (p.Arg556=)
n.615C>A
n.5946C>A
c.1924C>A (p.Arg642=)
c.1750C>A (p.Arg584=)
c.1726C>A (p.Arg576=)
c.859C>A (p.Arg287=)
c.772C>A (p.Arg258=)
c.685C>A (p.Arg229=)
n.591-6C>A
17g.45996503C=CA2262094999MAPTc.574C= (p.Arg192=)
c.487C= (p.Arg163=)
c.661C= (p.Arg221=)
n.525C=
c.1837C= (p.Arg613=)
c.1639C= (p.Arg547=)
c.1612C= (p.Arg538=)
c.1666C= (p.Arg556=)
n.615C=
n.5946C=
c.1924C= (p.Arg642=)
c.1750C= (p.Arg584=)
c.1726C= (p.Arg576=)
c.859C= (p.Arg287=)
c.772C= (p.Arg258=)
c.685C= (p.Arg229=)
n.591-6C=
17g.45996503C>GCA399978137MAPTc.574C>G (p.Arg192Gly)
c.487C>G (p.Arg163Gly)
c.661C>G (p.Arg221Gly)
n.525C>G
c.1837C>G (p.Arg613Gly)
c.1639C>G (p.Arg547Gly)
c.1612C>G (p.Arg538Gly)
c.1666C>G (p.Arg556Gly)
n.615C>G
n.5946C>G
c.1924C>G (p.Arg642Gly)
c.1750C>G (p.Arg584Gly)
c.1726C>G (p.Arg576Gly)
c.859C>G (p.Arg287Gly)
c.772C>G (p.Arg258Gly)
c.685C>G (p.Arg229Gly)
n.591-6C>G
17g.45996503C>TCA8618046MAPTc.574C>T (p.Arg192Trp)
c.487C>T (p.Arg163Trp)
c.661C>T (p.Arg221Trp)
n.525C>T
c.1837C>T (p.Arg613Trp)
c.1639C>T (p.Arg547Trp)
c.1612C>T (p.Arg538Trp)
c.1666C>T (p.Arg556Trp)
n.615C>T
n.5946C>T
c.1924C>T (p.Arg642Trp)
c.1750C>T (p.Arg584Trp)
c.1726C>T (p.Arg576Trp)
c.859C>T (p.Arg287Trp)
c.772C>T (p.Arg258Trp)
c.685C>T (p.Arg229Trp)
n.591-6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996504G>ACA8618047MAPTc.575G>A (p.Arg192Gln)
c.488G>A (p.Arg163Gln)
c.662G>A (p.Arg221Gln)
n.526G>A
c.1838G>A (p.Arg613Gln)
c.1640G>A (p.Arg547Gln)
c.1613G>A (p.Arg538Gln)
c.1667G>A (p.Arg556Gln)
n.616G>A
n.5947G>A
c.1925G>A (p.Arg642Gln)
c.1751G>A (p.Arg584Gln)
c.1727G>A (p.Arg576Gln)
c.860G>A (p.Arg287Gln)
c.773G>A (p.Arg258Gln)
c.686G>A (p.Arg229Gln)
n.591-5G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996504G>CCA399978138MAPTc.575G>C (p.Arg192Pro)
c.488G>C (p.Arg163Pro)
c.662G>C (p.Arg221Pro)
n.526G>C
c.1838G>C (p.Arg613Pro)
c.1640G>C (p.Arg547Pro)
c.1613G>C (p.Arg538Pro)
c.1667G>C (p.Arg556Pro)
n.616G>C
n.5947G>C
c.1925G>C (p.Arg642Pro)
c.1751G>C (p.Arg584Pro)
c.1727G>C (p.Arg576Pro)
c.860G>C (p.Arg287Pro)
c.773G>C (p.Arg258Pro)
c.686G>C (p.Arg229Pro)
n.591-5G>C
 dbSNP gnomAD v3 gnomAD v4
17g.45996504G=CA2262095000MAPTc.575G= (p.Arg192=)
c.488G= (p.Arg163=)
c.662G= (p.Arg221=)
n.526G=
c.1838G= (p.Arg613=)
c.1640G= (p.Arg547=)
c.1613G= (p.Arg538=)
c.1667G= (p.Arg556=)
n.616G=
n.5947G=
c.1925G= (p.Arg642=)
c.1751G= (p.Arg584=)
c.1727G= (p.Arg576=)
c.860G= (p.Arg287=)
c.773G= (p.Arg258=)
c.686G= (p.Arg229=)
n.591-5G=
17g.45996504G>TCA399978139MAPTc.575G>T (p.Arg192Leu)
c.488G>T (p.Arg163Leu)
c.662G>T (p.Arg221Leu)
n.526G>T
c.1838G>T (p.Arg613Leu)
c.1640G>T (p.Arg547Leu)
c.1613G>T (p.Arg538Leu)
c.1667G>T (p.Arg556Leu)
n.616G>T
n.5947G>T
c.1925G>T (p.Arg642Leu)
c.1751G>T (p.Arg584Leu)
c.1727G>T (p.Arg576Leu)
c.860G>T (p.Arg287Leu)
c.773G>T (p.Arg258Leu)
c.686G>T (p.Arg229Leu)
n.591-5G>T
 gnomAD v4
17g.45996505G>ACA500643974MAPTc.576G>A (p.Arg192=)
c.489G>A (p.Arg163=)
c.663G>A (p.Arg221=)
n.527G>A
c.1839G>A (p.Arg613=)
c.1641G>A (p.Arg547=)
c.1614G>A (p.Arg538=)
c.1668G>A (p.Arg556=)
n.617G>A
n.5948G>A
c.1926G>A (p.Arg642=)
c.1752G>A (p.Arg584=)
c.1728G>A (p.Arg576=)
c.861G>A (p.Arg287=)
c.774G>A (p.Arg258=)
c.687G>A (p.Arg229=)
n.591-4G>A
17g.45996505G>CCA500643975MAPTc.576G>C (p.Arg192=)
c.489G>C (p.Arg163=)
c.663G>C (p.Arg221=)
n.527G>C
c.1839G>C (p.Arg613=)
c.1641G>C (p.Arg547=)
c.1614G>C (p.Arg538=)
c.1668G>C (p.Arg556=)
n.617G>C
n.5948G>C
c.1926G>C (p.Arg642=)
c.1752G>C (p.Arg584=)
c.1728G>C (p.Arg576=)
c.861G>C (p.Arg287=)
c.774G>C (p.Arg258=)
c.687G>C (p.Arg229=)
n.591-4G>C
17g.45996505G>TCA500643973MAPTc.576G>T (p.Arg192=)
c.489G>T (p.Arg163=)
c.663G>T (p.Arg221=)
n.527G>T
c.1839G>T (p.Arg613=)
c.1641G>T (p.Arg547=)
c.1614G>T (p.Arg538=)
c.1668G>T (p.Arg556=)
n.617G>T
n.5948G>T
c.1926G>T (p.Arg642=)
c.1752G>T (p.Arg584=)
c.1728G>T (p.Arg576=)
c.861G>T (p.Arg287=)
c.774G>T (p.Arg258=)
c.687G>T (p.Arg229=)
n.591-4G>T
17g.45996506G>ACA399978140MAPTc.577G>A (p.Glu193Lys)
c.490G>A (p.Glu164Lys)
c.664G>A (p.Glu222Lys)
n.528G>A
c.1840G>A (p.Glu614Lys)
c.1642G>A (p.Glu548Lys)
c.1615G>A (p.Glu539Lys)
c.1669G>A (p.Glu557Lys)
n.618G>A
n.5949G>A
c.1927G>A (p.Glu643Lys)
c.1753G>A (p.Glu585Lys)
c.1729G>A (p.Glu577Lys)
c.862G>A (p.Glu288Lys)
c.775G>A (p.Glu259Lys)
c.688G>A (p.Glu230Lys)
n.591-3G>A
 gnomAD v4
17g.45996506G>CCA399978141MAPTc.577G>C (p.Glu193Gln)
c.490G>C (p.Glu164Gln)
c.664G>C (p.Glu222Gln)
n.528G>C
c.1840G>C (p.Glu614Gln)
c.1642G>C (p.Glu548Gln)
c.1615G>C (p.Glu539Gln)
c.1669G>C (p.Glu557Gln)
n.618G>C
n.5949G>C
c.1927G>C (p.Glu643Gln)
c.1753G>C (p.Glu585Gln)
c.1729G>C (p.Glu577Gln)
c.862G>C (p.Glu288Gln)
c.775G>C (p.Glu259Gln)
c.688G>C (p.Glu230Gln)
n.591-3G>C
 COSMIC COSMIC COSMIC
17g.45996506G>TCA399978142MAPTc.577G>T (p.Glu193Ter)
c.490G>T (p.Glu164Ter)
c.664G>T (p.Glu222Ter)
n.528G>T
c.1840G>T (p.Glu614Ter)
c.1642G>T (p.Glu548Ter)
c.1615G>T (p.Glu539Ter)
c.1669G>T (p.Glu557Ter)
n.618G>T
n.5949G>T
c.1927G>T (p.Glu643Ter)
c.1753G>T (p.Glu585Ter)
c.1729G>T (p.Glu577Ter)
c.862G>T (p.Glu288Ter)
c.775G>T (p.Glu259Ter)
c.688G>T (p.Glu230Ter)
n.591-3G>T
17g.45996507A=CA2262095001MAPTc.578A= (p.Glu193=)
c.491A= (p.Glu164=)
c.665A= (p.Glu222=)
n.529A=
c.1841A= (p.Glu614=)
c.1643A= (p.Glu548=)
c.1616A= (p.Glu539=)
c.1670A= (p.Glu557=)
n.619A=
n.5950A=
c.1928A= (p.Glu643=)
c.1754A= (p.Glu585=)
c.1730A= (p.Glu577=)
c.863A= (p.Glu288=)
c.776A= (p.Glu259=)
c.689A= (p.Glu230=)
n.591-2A=
17g.45996507A>CCA399978143MAPTc.578A>C (p.Glu193Ala)
c.491A>C (p.Glu164Ala)
c.665A>C (p.Glu222Ala)
n.529A>C
c.1841A>C (p.Glu614Ala)
c.1643A>C (p.Glu548Ala)
c.1616A>C (p.Glu539Ala)
c.1670A>C (p.Glu557Ala)
n.619A>C
n.5950A>C
c.1928A>C (p.Glu643Ala)
c.1754A>C (p.Glu585Ala)
c.1730A>C (p.Glu577Ala)
c.863A>C (p.Glu288Ala)
c.776A>C (p.Glu259Ala)
c.689A>C (p.Glu230Ala)
n.591-2A>C
 gnomAD v4
17g.45996507A>GCA399978144MAPTc.578A>G (p.Glu193Gly)
c.491A>G (p.Glu164Gly)
c.665A>G (p.Glu222Gly)
n.529A>G
c.1841A>G (p.Glu614Gly)
c.1643A>G (p.Glu548Gly)
c.1616A>G (p.Glu539Gly)
c.1670A>G (p.Glu557Gly)
n.619A>G
n.5950A>G
c.1928A>G (p.Glu643Gly)
c.1754A>G (p.Glu585Gly)
c.1730A>G (p.Glu577Gly)
c.863A>G (p.Glu288Gly)
c.776A>G (p.Glu259Gly)
c.689A>G (p.Glu230Gly)
n.591-2A>G
 dbSNP gnomAD v3 gnomAD v4
17g.45996507A>TCA399978145MAPTc.578A>T (p.Glu193Val)
c.491A>T (p.Glu164Val)
c.665A>T (p.Glu222Val)
n.529A>T
c.1841A>T (p.Glu614Val)
c.1643A>T (p.Glu548Val)
c.1616A>T (p.Glu539Val)
c.1670A>T (p.Glu557Val)
n.619A>T
n.5950A>T
c.1928A>T (p.Glu643Val)
c.1754A>T (p.Glu585Val)
c.1730A>T (p.Glu577Val)
c.863A>T (p.Glu288Val)
c.776A>T (p.Glu259Val)
c.689A>T (p.Glu230Val)
n.591-2A>T
 gnomAD v4
17g.45996508G>ACA500643976MAPTc.579G>A (p.Glu193=)
c.492G>A (p.Glu164=)
c.666G>A (p.Glu222=)
n.530G>A
c.1842G>A (p.Glu614=)
c.1644G>A (p.Glu548=)
c.1617G>A (p.Glu539=)
c.1671G>A (p.Glu557=)
n.620G>A
n.5951G>A
c.1929G>A (p.Glu643=)
c.1755G>A (p.Glu585=)
c.1731G>A (p.Glu577=)
c.864G>A (p.Glu288=)
c.777G>A (p.Glu259=)
c.690G>A (p.Glu230=)
n.591-1G>A
17g.45996508G>CCA399978146MAPTc.579G>C (p.Glu193Asp)
c.492G>C (p.Glu164Asp)
c.666G>C (p.Glu222Asp)
n.530G>C
c.1842G>C (p.Glu614Asp)
c.1644G>C (p.Glu548Asp)
c.1617G>C (p.Glu539Asp)
c.1671G>C (p.Glu557Asp)
n.620G>C
n.5951G>C
c.1929G>C (p.Glu643Asp)
c.1755G>C (p.Glu585Asp)
c.1731G>C (p.Glu577Asp)
c.864G>C (p.Glu288Asp)
c.777G>C (p.Glu259Asp)
c.690G>C (p.Glu230Asp)
n.591-1G>C
17g.45996508G>TCA399978147MAPTc.579G>T (p.Glu193Asp)
c.492G>T (p.Glu164Asp)
c.666G>T (p.Glu222Asp)
n.530G>T
c.1842G>T (p.Glu614Asp)
c.1644G>T (p.Glu548Asp)
c.1617G>T (p.Glu539Asp)
c.1671G>T (p.Glu557Asp)
n.620G>T
n.5951G>T
c.1929G>T (p.Glu643Asp)
c.1755G>T (p.Glu585Asp)
c.1731G>T (p.Glu577Asp)
c.864G>T (p.Glu288Asp)
c.777G>T (p.Glu259Asp)
c.690G>T (p.Glu230Asp)
n.591-1G>T
17g.45996509C>ACA399978148MAPTc.580C>A (p.Pro194Thr)
c.493C>A (p.Pro165Thr)
c.667C>A (p.Pro223Thr)
n.531C>A
c.1843C>A (p.Pro615Thr)
c.1645C>A (p.Pro549Thr)
c.1618C>A (p.Pro540Thr)
c.1672C>A (p.Pro558Thr)
n.621C>A
n.5952C>A
c.1930C>A (p.Pro644Thr)
c.1756C>A (p.Pro586Thr)
c.1732C>A (p.Pro578Thr)
c.865C>A (p.Pro289Thr)
c.778C>A (p.Pro260Thr)
c.691C>A (p.Pro231Thr)
n.591C>A
17g.45996509C>GCA399978149MAPTc.580C>G (p.Pro194Ala)
c.493C>G (p.Pro165Ala)
c.667C>G (p.Pro223Ala)
n.531C>G
c.1843C>G (p.Pro615Ala)
c.1645C>G (p.Pro549Ala)
c.1618C>G (p.Pro540Ala)
c.1672C>G (p.Pro558Ala)
n.621C>G
n.5952C>G
c.1930C>G (p.Pro644Ala)
c.1756C>G (p.Pro586Ala)
c.1732C>G (p.Pro578Ala)
c.865C>G (p.Pro289Ala)
c.778C>G (p.Pro260Ala)
c.691C>G (p.Pro231Ala)
n.591C>G
17g.45996509C>TCA399978150MAPTc.580C>T (p.Pro194Ser)
c.493C>T (p.Pro165Ser)
c.667C>T (p.Pro223Ser)
n.531C>T
c.1843C>T (p.Pro615Ser)
c.1645C>T (p.Pro549Ser)
c.1618C>T (p.Pro540Ser)
c.1672C>T (p.Pro558Ser)
n.621C>T
n.5952C>T
c.1930C>T (p.Pro644Ser)
c.1756C>T (p.Pro586Ser)
c.1732C>T (p.Pro578Ser)
c.865C>T (p.Pro289Ser)
c.778C>T (p.Pro260Ser)
c.691C>T (p.Pro231Ser)
n.591C>T
17g.45996510C>ACA399978153MAPTc.581C>A (p.Pro194His)
c.494C>A (p.Pro165His)
c.668C>A (p.Pro223His)
n.532C>A
c.1844C>A (p.Pro615His)
c.1646C>A (p.Pro549His)
c.1619C>A (p.Pro540His)
c.1673C>A (p.Pro558His)
n.622C>A
n.5953C>A
c.1931C>A (p.Pro644His)
c.1757C>A (p.Pro586His)
c.1733C>A (p.Pro578His)
c.866C>A (p.Pro289His)
c.779C>A (p.Pro260His)
c.692C>A (p.Pro231His)
n.592C>A
17g.45996510C>GCA399978151MAPTc.581C>G (p.Pro194Arg)
c.494C>G (p.Pro165Arg)
c.668C>G (p.Pro223Arg)
n.532C>G
c.1844C>G (p.Pro615Arg)
c.1646C>G (p.Pro549Arg)
c.1619C>G (p.Pro540Arg)
c.1673C>G (p.Pro558Arg)
n.622C>G
n.5953C>G
c.1931C>G (p.Pro644Arg)
c.1757C>G (p.Pro586Arg)
c.1733C>G (p.Pro578Arg)
c.866C>G (p.Pro289Arg)
c.779C>G (p.Pro260Arg)
c.692C>G (p.Pro231Arg)
n.592C>G
17g.45996510C>TCA399978152MAPTc.581C>T (p.Pro194Leu)
c.494C>T (p.Pro165Leu)
c.668C>T (p.Pro223Leu)
n.532C>T
c.1844C>T (p.Pro615Leu)
c.1646C>T (p.Pro549Leu)
c.1619C>T (p.Pro540Leu)
c.1673C>T (p.Pro558Leu)
n.622C>T
n.5953C>T
c.1931C>T (p.Pro644Leu)
c.1757C>T (p.Pro586Leu)
c.1733C>T (p.Pro578Leu)
c.866C>T (p.Pro289Leu)
c.779C>T (p.Pro260Leu)
c.692C>T (p.Pro231Leu)
n.592C>T
17g.45996511C>ACA500643977MAPTc.582C>A (p.Pro194=)
c.495C>A (p.Pro165=)
c.669C>A (p.Pro223=)
n.533C>A
c.1845C>A (p.Pro615=)
c.1647C>A (p.Pro549=)
c.1620C>A (p.Pro540=)
c.1674C>A (p.Pro558=)
n.623C>A
n.5954C>A
c.1932C>A (p.Pro644=)
c.1758C>A (p.Pro586=)
c.1734C>A (p.Pro578=)
c.867C>A (p.Pro289=)
c.780C>A (p.Pro260=)
c.693C>A (p.Pro231=)
n.593C>A
17g.45996511C=CA2262095002MAPTc.582C= (p.Pro194=)
c.495C= (p.Pro165=)
c.669C= (p.Pro223=)
n.533C=
c.1845C= (p.Pro615=)
c.1647C= (p.Pro549=)
c.1620C= (p.Pro540=)
c.1674C= (p.Pro558=)
n.623C=
n.5954C=
c.1932C= (p.Pro644=)
c.1758C= (p.Pro586=)
c.1734C= (p.Pro578=)
c.867C= (p.Pro289=)
c.780C= (p.Pro260=)
c.693C= (p.Pro231=)
n.593C=
17g.45996511C>GCA291107185MAPTc.582C>G (p.Pro194=)
c.495C>G (p.Pro165=)
c.669C>G (p.Pro223=)
n.533C>G
c.1845C>G (p.Pro615=)
c.1647C>G (p.Pro549=)
c.1620C>G (p.Pro540=)
c.1674C>G (p.Pro558=)
n.623C>G
n.5954C>G
c.1932C>G (p.Pro644=)
c.1758C>G (p.Pro586=)
c.1734C>G (p.Pro578=)
c.867C>G (p.Pro289=)
c.780C>G (p.Pro260=)
c.693C>G (p.Pro231=)
n.593C>G
 dbSNP gnomAD v3 gnomAD v4
17g.45996511C>TCA500643978MAPTc.582C>T (p.Pro194=)
c.495C>T (p.Pro165=)
c.669C>T (p.Pro223=)
n.533C>T
c.1845C>T (p.Pro615=)
c.1647C>T (p.Pro549=)
c.1620C>T (p.Pro540=)
c.1674C>T (p.Pro558=)
n.623C>T
n.5954C>T
c.1932C>T (p.Pro644=)
c.1758C>T (p.Pro586=)
c.1734C>T (p.Pro578=)
c.867C>T (p.Pro289=)
c.780C>T (p.Pro260=)
c.693C>T (p.Pro231=)
n.593C>T
17g.45996512A>CCA399978154MAPTc.583A>C (p.Lys195Gln)
c.496A>C (p.Lys166Gln)
c.670A>C (p.Lys224Gln)
n.534A>C
c.1846A>C (p.Lys616Gln)
c.1648A>C (p.Lys550Gln)
c.1621A>C (p.Lys541Gln)
c.1675A>C (p.Lys559Gln)
n.624A>C
n.5955A>C
c.1933A>C (p.Lys645Gln)
c.1759A>C (p.Lys587Gln)
c.1735A>C (p.Lys579Gln)
c.868A>C (p.Lys290Gln)
c.781A>C (p.Lys261Gln)
c.694A>C (p.Lys232Gln)
n.594A>C
 dbSNP gnomAD v3 gnomAD v4
17g.45996512A>GCA399978155MAPTc.583A>G (p.Lys195Glu)
c.496A>G (p.Lys166Glu)
c.670A>G (p.Lys224Glu)
n.534A>G
c.1846A>G (p.Lys616Glu)
c.1648A>G (p.Lys550Glu)
c.1621A>G (p.Lys541Glu)
c.1675A>G (p.Lys559Glu)
n.624A>G
n.5955A>G
c.1933A>G (p.Lys645Glu)
c.1759A>G (p.Lys587Glu)
c.1735A>G (p.Lys579Glu)
c.868A>G (p.Lys290Glu)
c.781A>G (p.Lys261Glu)
c.694A>G (p.Lys232Glu)
n.594A>G
17g.45996512A>TCA399978156MAPTc.583A>T (p.Lys195Ter)
c.496A>T (p.Lys166Ter)
c.670A>T (p.Lys224Ter)
n.534A>T
c.1846A>T (p.Lys616Ter)
c.1648A>T (p.Lys550Ter)
c.1621A>T (p.Lys541Ter)
c.1675A>T (p.Lys559Ter)
n.624A>T
n.5955A>T
c.1933A>T (p.Lys645Ter)
c.1759A>T (p.Lys587Ter)
c.1735A>T (p.Lys579Ter)
c.868A>T (p.Lys290Ter)
c.781A>T (p.Lys261Ter)
c.694A>T (p.Lys232Ter)
n.594A>T
 gnomAD v4
17g.45996513A>CCA399978157MAPTc.584A>C (p.Lys195Thr)
c.497A>C (p.Lys166Thr)
c.671A>C (p.Lys224Thr)
n.535A>C
c.1847A>C (p.Lys616Thr)
c.1649A>C (p.Lys550Thr)
c.1622A>C (p.Lys541Thr)
c.1676A>C (p.Lys559Thr)
n.625A>C
n.5956A>C
c.1934A>C (p.Lys645Thr)
c.1760A>C (p.Lys587Thr)
c.1736A>C (p.Lys579Thr)
c.869A>C (p.Lys290Thr)
c.782A>C (p.Lys261Thr)
c.695A>C (p.Lys232Thr)
n.595A>C
17g.45996513A>GCA399978158MAPTc.584A>G (p.Lys195Arg)
c.497A>G (p.Lys166Arg)
c.671A>G (p.Lys224Arg)
n.535A>G
c.1847A>G (p.Lys616Arg)
c.1649A>G (p.Lys550Arg)
c.1622A>G (p.Lys541Arg)
c.1676A>G (p.Lys559Arg)
n.625A>G
n.5956A>G
c.1934A>G (p.Lys645Arg)
c.1760A>G (p.Lys587Arg)
c.1736A>G (p.Lys579Arg)
c.869A>G (p.Lys290Arg)
c.782A>G (p.Lys261Arg)
c.695A>G (p.Lys232Arg)
n.595A>G
17g.45996513A>TCA399978159MAPTc.584A>T (p.Lys195Met)
c.497A>T (p.Lys166Met)
c.671A>T (p.Lys224Met)
n.535A>T
c.1847A>T (p.Lys616Met)
c.1649A>T (p.Lys550Met)
c.1622A>T (p.Lys541Met)
c.1676A>T (p.Lys559Met)
n.625A>T
n.5956A>T
c.1934A>T (p.Lys645Met)
c.1760A>T (p.Lys587Met)
c.1736A>T (p.Lys579Met)
c.869A>T (p.Lys290Met)
c.782A>T (p.Lys261Met)
c.695A>T (p.Lys232Met)
n.595A>T
17g.45996514G>ACA500643979MAPTc.585G>A (p.Lys195=)
c.498G>A (p.Lys166=)
c.672G>A (p.Lys224=)
n.536G>A
c.1848G>A (p.Lys616=)
c.1650G>A (p.Lys550=)
c.1623G>A (p.Lys541=)
c.1677G>A (p.Lys559=)
n.626G>A
n.5957G>A
c.1935G>A (p.Lys645=)
c.1761G>A (p.Lys587=)
c.1737G>A (p.Lys579=)
c.870G>A (p.Lys290=)
c.783G>A (p.Lys261=)
c.696G>A (p.Lys232=)
n.596G>A
17g.45996514G>CCA399978160MAPTc.585G>C (p.Lys195Asn)
c.498G>C (p.Lys166Asn)
c.672G>C (p.Lys224Asn)
n.536G>C
c.1848G>C (p.Lys616Asn)
c.1650G>C (p.Lys550Asn)
c.1623G>C (p.Lys541Asn)
c.1677G>C (p.Lys559Asn)
n.626G>C
n.5957G>C
c.1935G>C (p.Lys645Asn)
c.1761G>C (p.Lys587Asn)
c.1737G>C (p.Lys579Asn)
c.870G>C (p.Lys290Asn)
c.783G>C (p.Lys261Asn)
c.696G>C (p.Lys232Asn)
n.596G>C
17g.45996514G>TCA399978161MAPTc.585G>T (p.Lys195Asn)
c.498G>T (p.Lys166Asn)
c.672G>T (p.Lys224Asn)
n.536G>T
c.1848G>T (p.Lys616Asn)
c.1650G>T (p.Lys550Asn)
c.1623G>T (p.Lys541Asn)
c.1677G>T (p.Lys559Asn)
n.626G>T
n.5957G>T
c.1935G>T (p.Lys645Asn)
c.1761G>T (p.Lys587Asn)
c.1737G>T (p.Lys579Asn)
c.870G>T (p.Lys290Asn)
c.783G>T (p.Lys261Asn)
c.696G>T (p.Lys232Asn)
n.596G>T
17g.45996515A>CCA399978162MAPTc.586A>C (p.Lys196Gln)
c.499A>C (p.Lys167Gln)
c.673A>C (p.Lys225Gln)
n.537A>C
c.1849A>C (p.Lys617Gln)
c.1651A>C (p.Lys551Gln)
c.1624A>C (p.Lys542Gln)
c.1678A>C (p.Lys560Gln)
n.627A>C
n.5958A>C
c.1936A>C (p.Lys646Gln)
c.1762A>C (p.Lys588Gln)
c.1738A>C (p.Lys580Gln)
c.871A>C (p.Lys291Gln)
c.784A>C (p.Lys262Gln)
c.697A>C (p.Lys233Gln)
n.597A>C
17g.45996515A>GCA399978163MAPTc.586A>G (p.Lys196Glu)
c.499A>G (p.Lys167Glu)
c.673A>G (p.Lys225Glu)
n.537A>G
c.1849A>G (p.Lys617Glu)
c.1651A>G (p.Lys551Glu)
c.1624A>G (p.Lys542Glu)
c.1678A>G (p.Lys560Glu)
n.627A>G
n.5958A>G
c.1936A>G (p.Lys646Glu)
c.1762A>G (p.Lys588Glu)
c.1738A>G (p.Lys580Glu)
c.871A>G (p.Lys291Glu)
c.784A>G (p.Lys262Glu)
c.697A>G (p.Lys233Glu)
n.597A>G
17g.45996515A>TCA399978164MAPTc.586A>T (p.Lys196Ter)
c.499A>T (p.Lys167Ter)
c.673A>T (p.Lys225Ter)
n.537A>T
c.1849A>T (p.Lys617Ter)
c.1651A>T (p.Lys551Ter)
c.1624A>T (p.Lys542Ter)
c.1678A>T (p.Lys560Ter)
n.627A>T
n.5958A>T
c.1936A>T (p.Lys646Ter)
c.1762A>T (p.Lys588Ter)
c.1738A>T (p.Lys580Ter)
c.871A>T (p.Lys291Ter)
c.784A>T (p.Lys262Ter)
c.697A>T (p.Lys233Ter)
n.597A>T
17g.45996516A>CCA399978166MAPTc.587A>C (p.Lys196Thr)
c.500A>C (p.Lys167Thr)
c.674A>C (p.Lys225Thr)
n.538A>C
c.1850A>C (p.Lys617Thr)
c.1652A>C (p.Lys551Thr)
c.1625A>C (p.Lys542Thr)
c.1679A>C (p.Lys560Thr)
n.628A>C
n.5959A>C
c.1937A>C (p.Lys646Thr)
c.1763A>C (p.Lys588Thr)
c.1739A>C (p.Lys580Thr)
c.872A>C (p.Lys291Thr)
c.785A>C (p.Lys262Thr)
c.698A>C (p.Lys233Thr)
n.598A>C
17g.45996516A>GCA399978167MAPTc.587A>G (p.Lys196Arg)
c.500A>G (p.Lys167Arg)
c.674A>G (p.Lys225Arg)
n.538A>G
c.1850A>G (p.Lys617Arg)
c.1652A>G (p.Lys551Arg)
c.1625A>G (p.Lys542Arg)
c.1679A>G (p.Lys560Arg)
n.628A>G
n.5959A>G
c.1937A>G (p.Lys646Arg)
c.1763A>G (p.Lys588Arg)
c.1739A>G (p.Lys580Arg)
c.872A>G (p.Lys291Arg)
c.785A>G (p.Lys262Arg)
c.698A>G (p.Lys233Arg)
n.598A>G
17g.45996516A>TCA399978165MAPTc.587A>T (p.Lys196Met)
c.500A>T (p.Lys167Met)
c.674A>T (p.Lys225Met)
n.538A>T
c.1850A>T (p.Lys617Met)
c.1652A>T (p.Lys551Met)
c.1625A>T (p.Lys542Met)
c.1679A>T (p.Lys560Met)
n.628A>T
n.5959A>T
c.1937A>T (p.Lys646Met)
c.1763A>T (p.Lys588Met)
c.1739A>T (p.Lys580Met)
c.872A>T (p.Lys291Met)
c.785A>T (p.Lys262Met)
c.698A>T (p.Lys233Met)
n.598A>T
17g.45996517G>ACA500643980MAPTc.588G>A (p.Lys196=)
c.501G>A (p.Lys167=)
c.675G>A (p.Lys225=)
n.539G>A
c.1851G>A (p.Lys617=)
c.1653G>A (p.Lys551=)
c.1626G>A (p.Lys542=)
c.1680G>A (p.Lys560=)
n.629G>A
n.5960G>A
c.1938G>A (p.Lys646=)
c.1764G>A (p.Lys588=)
c.1740G>A (p.Lys580=)
c.873G>A (p.Lys291=)
c.786G>A (p.Lys262=)
c.699G>A (p.Lys233=)
n.599G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.45996517G>CCA399978168MAPTc.588G>C (p.Lys196Asn)
c.501G>C (p.Lys167Asn)
c.675G>C (p.Lys225Asn)
n.539G>C
c.1851G>C (p.Lys617Asn)
c.1653G>C (p.Lys551Asn)
c.1626G>C (p.Lys542Asn)
c.1680G>C (p.Lys560Asn)
n.629G>C
n.5960G>C
c.1938G>C (p.Lys646Asn)
c.1764G>C (p.Lys588Asn)
c.1740G>C (p.Lys580Asn)
c.873G>C (p.Lys291Asn)
c.786G>C (p.Lys262Asn)
c.699G>C (p.Lys233Asn)
n.599G>C
17g.45996517G=CA2262095003MAPTc.588G= (p.Lys196=)
c.501G= (p.Lys167=)
c.675G= (p.Lys225=)
n.539G=
c.1851G= (p.Lys617=)
c.1653G= (p.Lys551=)
c.1626G= (p.Lys542=)
c.1680G= (p.Lys560=)
n.629G=
n.5960G=
c.1938G= (p.Lys646=)
c.1764G= (p.Lys588=)
c.1740G= (p.Lys580=)
c.873G= (p.Lys291=)
c.786G= (p.Lys262=)
c.699G= (p.Lys233=)
n.599G=
17g.45996517G>TCA399978169MAPTc.588G>T (p.Lys196Asn)
c.501G>T (p.Lys167Asn)
c.675G>T (p.Lys225Asn)
n.539G>T
c.1851G>T (p.Lys617Asn)
c.1653G>T (p.Lys551Asn)
c.1626G>T (p.Lys542Asn)
c.1680G>T (p.Lys560Asn)
n.629G>T
n.5960G>T
c.1938G>T (p.Lys646Asn)
c.1764G>T (p.Lys588Asn)
c.1740G>T (p.Lys580Asn)
c.873G>T (p.Lys291Asn)
c.786G>T (p.Lys262Asn)
c.699G>T (p.Lys233Asn)
n.599G>T
17g.45996518G>ACA399978170MAPTc.589G>A (p.Val197Met)
c.502G>A (p.Val168Met)
c.676G>A (p.Val226Met)
n.540G>A
c.1852G>A (p.Val618Met)
c.1654G>A (p.Val552Met)
c.1627G>A (p.Val543Met)
c.1681G>A (p.Val561Met)
n.630G>A
n.5961G>A
c.1939G>A (p.Val647Met)
c.1765G>A (p.Val589Met)
c.1741G>A (p.Val581Met)
c.874G>A (p.Val292Met)
c.787G>A (p.Val263Met)
c.700G>A (p.Val234Met)
n.600G>A
17g.45996518G>CCA399978171MAPTc.589G>C (p.Val197Leu)
c.502G>C (p.Val168Leu)
c.676G>C (p.Val226Leu)
n.540G>C
c.1852G>C (p.Val618Leu)
c.1654G>C (p.Val552Leu)
c.1627G>C (p.Val543Leu)
c.1681G>C (p.Val561Leu)
n.630G>C
n.5961G>C
c.1939G>C (p.Val647Leu)
c.1765G>C (p.Val589Leu)
c.1741G>C (p.Val581Leu)
c.874G>C (p.Val292Leu)
c.787G>C (p.Val263Leu)
c.700G>C (p.Val234Leu)
n.600G>C
17g.45996518G>TCA399978172MAPTc.589G>T (p.Val197Leu)
c.502G>T (p.Val168Leu)
c.676G>T (p.Val226Leu)
n.540G>T
c.1852G>T (p.Val618Leu)
c.1654G>T (p.Val552Leu)
c.1627G>T (p.Val543Leu)
c.1681G>T (p.Val561Leu)
n.630G>T
n.5961G>T
c.1939G>T (p.Val647Leu)
c.1765G>T (p.Val589Leu)
c.1741G>T (p.Val581Leu)
c.874G>T (p.Val292Leu)
c.787G>T (p.Val263Leu)
c.700G>T (p.Val234Leu)
n.600G>T
17g.45996519T>ACA399978173MAPTc.590T>A (p.Val197Glu)
c.503T>A (p.Val168Glu)
c.677T>A (p.Val226Glu)
n.541T>A
c.1853T>A (p.Val618Glu)
c.1655T>A (p.Val552Glu)
c.1628T>A (p.Val543Glu)
c.1682T>A (p.Val561Glu)
n.631T>A
n.5962T>A
c.1940T>A (p.Val647Glu)
c.1766T>A (p.Val589Glu)
c.1742T>A (p.Val581Glu)
c.875T>A (p.Val292Glu)
c.788T>A (p.Val263Glu)
c.701T>A (p.Val234Glu)
n.601T>A
17g.45996519T>CCA399978174MAPTc.590T>C (p.Val197Ala)
c.503T>C (p.Val168Ala)
c.677T>C (p.Val226Ala)
n.541T>C
c.1853T>C (p.Val618Ala)
c.1655T>C (p.Val552Ala)
c.1628T>C (p.Val543Ala)
c.1682T>C (p.Val561Ala)
n.631T>C
n.5962T>C
c.1940T>C (p.Val647Ala)
c.1766T>C (p.Val589Ala)
c.1742T>C (p.Val581Ala)
c.875T>C (p.Val292Ala)
c.788T>C (p.Val263Ala)
c.701T>C (p.Val234Ala)
n.601T>C
17g.45996519T>GCA399978175MAPTc.590T>G (p.Val197Gly)
c.503T>G (p.Val168Gly)
c.677T>G (p.Val226Gly)
n.541T>G
c.1853T>G (p.Val618Gly)
c.1655T>G (p.Val552Gly)
c.1628T>G (p.Val543Gly)
c.1682T>G (p.Val561Gly)
n.631T>G
n.5962T>G
c.1940T>G (p.Val647Gly)
c.1766T>G (p.Val589Gly)
c.1742T>G (p.Val581Gly)
c.875T>G (p.Val292Gly)
c.788T>G (p.Val263Gly)
c.701T>G (p.Val234Gly)
n.601T>G
17g.45996520G>ACA8618048MAPTc.591G>A (p.Val197=)
c.504G>A (p.Val168=)
c.678G>A (p.Val226=)
n.542G>A
c.1854G>A (p.Val618=)
c.1656G>A (p.Val552=)
c.1629G>A (p.Val543=)
c.1683G>A (p.Val561=)
n.632G>A
n.5963G>A
c.1941G>A (p.Val647=)
c.1767G>A (p.Val589=)
c.1743G>A (p.Val581=)
c.876G>A (p.Val292=)
c.789G>A (p.Val263=)
c.702G>A (p.Val234=)
n.602G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996520G>CCA500643981MAPTc.591G>C (p.Val197=)
c.504G>C (p.Val168=)
c.678G>C (p.Val226=)
n.542G>C
c.1854G>C (p.Val618=)
c.1656G>C (p.Val552=)
c.1629G>C (p.Val543=)
c.1683G>C (p.Val561=)
n.632G>C
n.5963G>C
c.1941G>C (p.Val647=)
c.1767G>C (p.Val589=)
c.1743G>C (p.Val581=)
c.876G>C (p.Val292=)
c.789G>C (p.Val263=)
c.702G>C (p.Val234=)
n.602G>C
17g.45996520G=CA2262095004MAPTc.591G= (p.Val197=)
c.504G= (p.Val168=)
c.678G= (p.Val226=)
n.542G=
c.1854G= (p.Val618=)
c.1656G= (p.Val552=)
c.1629G= (p.Val543=)
c.1683G= (p.Val561=)
n.632G=
n.5963G=
c.1941G= (p.Val647=)
c.1767G= (p.Val589=)
c.1743G= (p.Val581=)
c.876G= (p.Val292=)
c.789G= (p.Val263=)
c.702G= (p.Val234=)
n.602G=
17g.45996520G>TCA500643982MAPTc.591G>T (p.Val197=)
c.504G>T (p.Val168=)
c.678G>T (p.Val226=)
n.542G>T
c.1854G>T (p.Val618=)
c.1656G>T (p.Val552=)
c.1629G>T (p.Val543=)
c.1683G>T (p.Val561=)
n.632G>T
n.5963G>T
c.1941G>T (p.Val647=)
c.1767G>T (p.Val589=)
c.1743G>T (p.Val581=)
c.876G>T (p.Val292=)
c.789G>T (p.Val263=)
c.702G>T (p.Val234=)
n.602G>T
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
17g.45996536C>GCA399978207MAPTc.607C>G (p.Pro203Ala)
c.520C>G (p.Pro174Ala)
c.694C>G (p.Pro232Ala)
n.558C>G
c.1870C>G (p.Pro624Ala)
c.1672C>G (p.Pro558Ala)
c.1645C>G (p.Pro549Ala)
c.1699C>G (p.Pro567Ala)
n.648C>G
n.5979C>G
c.1957C>G (p.Pro653Ala)
c.1783C>G (p.Pro595Ala)
c.1759C>G (p.Pro587Ala)
c.892C>G (p.Pro298Ala)
c.805C>G (p.Pro269Ala)
c.718C>G (p.Pro240Ala)
n.618C>G
17g.45996536C>TCA399978208MAPTc.607C>T (p.Pro203Ser)
c.520C>T (p.Pro174Ser)
c.694C>T (p.Pro232Ser)
n.558C>T
c.1870C>T (p.Pro624Ser)
c.1672C>T (p.Pro558Ser)
c.1645C>T (p.Pro549Ser)
c.1699C>T (p.Pro567Ser)
n.648C>T
n.5979C>T
c.1957C>T (p.Pro653Ser)
c.1783C>T (p.Pro595Ser)
c.1759C>T (p.Pro587Ser)
c.892C>T (p.Pro298Ser)
c.805C>T (p.Pro269Ser)
c.718C>T (p.Pro240Ser)
n.618C>T
17g.45996537C>ACA399978211MAPTc.608C>A (p.Pro203Gln)
c.521C>A (p.Pro174Gln)
c.695C>A (p.Pro232Gln)
n.559C>A
c.1871C>A (p.Pro624Gln)
c.1673C>A (p.Pro558Gln)
c.1646C>A (p.Pro549Gln)
c.1700C>A (p.Pro567Gln)
n.649C>A
n.5980C>A
c.1958C>A (p.Pro653Gln)
c.1784C>A (p.Pro595Gln)
c.1760C>A (p.Pro587Gln)
c.893C>A (p.Pro298Gln)
c.806C>A (p.Pro269Gln)
c.719C>A (p.Pro240Gln)
n.619C>A
 dbSNP
17g.45996537C>GCA399978209MAPTc.608C>G (p.Pro203Arg)
c.521C>G (p.Pro174Arg)
c.695C>G (p.Pro232Arg)
n.559C>G
c.1871C>G (p.Pro624Arg)
c.1673C>G (p.Pro558Arg)
c.1646C>G (p.Pro549Arg)
c.1700C>G (p.Pro567Arg)
n.649C>G
n.5980C>G
c.1958C>G (p.Pro653Arg)
c.1784C>G (p.Pro595Arg)
c.1760C>G (p.Pro587Arg)
c.893C>G (p.Pro298Arg)
c.806C>G (p.Pro269Arg)
c.719C>G (p.Pro240Arg)
n.619C>G
17g.45996537C>TCA399978210MAPTc.608C>T (p.Pro203Leu)
c.521C>T (p.Pro174Leu)
c.695C>T (p.Pro232Leu)
n.559C>T
c.1871C>T (p.Pro624Leu)
c.1673C>T (p.Pro558Leu)
c.1646C>T (p.Pro549Leu)
c.1700C>T (p.Pro567Leu)
n.649C>T
n.5980C>T
c.1958C>T (p.Pro653Leu)
c.1784C>T (p.Pro595Leu)
c.1760C>T (p.Pro587Leu)
c.893C>T (p.Pro298Leu)
c.806C>T (p.Pro269Leu)
c.719C>T (p.Pro240Leu)
n.619C>T
17g.45996538A>CCA500643998MAPTc.609A>C (p.Pro203=)
c.522A>C (p.Pro174=)
c.696A>C (p.Pro232=)
n.560A>C
c.1872A>C (p.Pro624=)
c.1674A>C (p.Pro558=)
c.1647A>C (p.Pro549=)
c.1701A>C (p.Pro567=)
n.650A>C
n.5981A>C
c.1959A>C (p.Pro653=)
c.1785A>C (p.Pro595=)
c.1761A>C (p.Pro587=)
c.894A>C (p.Pro298=)
c.807A>C (p.Pro269=)
c.720A>C (p.Pro240=)
n.620A>C
17g.45996538A>GCA500643996MAPTc.609A>G (p.Pro203=)
c.522A>G (p.Pro174=)
c.696A>G (p.Pro232=)
n.560A>G
c.1872A>G (p.Pro624=)
c.1674A>G (p.Pro558=)
c.1647A>G (p.Pro549=)
c.1701A>G (p.Pro567=)
n.650A>G
n.5981A>G
c.1959A>G (p.Pro653=)
c.1785A>G (p.Pro595=)
c.1761A>G (p.Pro587=)
c.894A>G (p.Pro298=)
c.807A>G (p.Pro269=)
c.720A>G (p.Pro240=)
n.620A>G
17g.45996538A>TCA500643997MAPTc.609A>T (p.Pro203=)
c.522A>T (p.Pro174=)
c.696A>T (p.Pro232=)
n.560A>T
c.1872A>T (p.Pro624=)
c.1674A>T (p.Pro558=)
c.1647A>T (p.Pro549=)
c.1701A>T (p.Pro567=)
n.650A>T
n.5981A>T
c.1959A>T (p.Pro653=)
c.1785A>T (p.Pro595=)
c.1761A>T (p.Pro587=)
c.894A>T (p.Pro298=)
c.807A>T (p.Pro269=)
c.720A>T (p.Pro240=)
n.620A>T
17g.45996539C>ACA399978212MAPTc.610C>A (p.Pro204Thr)
c.523C>A (p.Pro175Thr)
c.697C>A (p.Pro233Thr)
n.561C>A
c.1873C>A (p.Pro625Thr)
c.1675C>A (p.Pro559Thr)
c.1648C>A (p.Pro550Thr)
c.1702C>A (p.Pro568Thr)
n.651C>A
n.5982C>A
c.1960C>A (p.Pro654Thr)
c.1786C>A (p.Pro596Thr)
c.1762C>A (p.Pro588Thr)
c.895C>A (p.Pro299Thr)
c.808C>A (p.Pro270Thr)
c.721C>A (p.Pro241Thr)
n.621C>A
 ClinVar
17g.45996539C>GCA399978213MAPTc.610C>G (p.Pro204Ala)
c.523C>G (p.Pro175Ala)
c.697C>G (p.Pro233Ala)
n.561C>G
c.1873C>G (p.Pro625Ala)
c.1675C>G (p.Pro559Ala)
c.1648C>G (p.Pro550Ala)
c.1702C>G (p.Pro568Ala)
n.651C>G
n.5982C>G
c.1960C>G (p.Pro654Ala)
c.1786C>G (p.Pro596Ala)
c.1762C>G (p.Pro588Ala)
c.895C>G (p.Pro299Ala)
c.808C>G (p.Pro270Ala)
c.721C>G (p.Pro241Ala)
n.621C>G
17g.45996539C>TCA399978214MAPTc.610C>T (p.Pro204Ser)
c.523C>T (p.Pro175Ser)
c.697C>T (p.Pro233Ser)
n.561C>T
c.1873C>T (p.Pro625Ser)
c.1675C>T (p.Pro559Ser)
c.1648C>T (p.Pro550Ser)
c.1702C>T (p.Pro568Ser)
n.651C>T
n.5982C>T
c.1960C>T (p.Pro654Ser)
c.1786C>T (p.Pro596Ser)
c.1762C>T (p.Pro588Ser)
c.895C>T (p.Pro299Ser)
c.808C>T (p.Pro270Ser)
c.721C>T (p.Pro241Ser)
n.621C>T
 COSMIC COSMIC COSMIC
17g.45996540C>ACA399978215MAPTc.611C>A (p.Pro204His)
c.524C>A (p.Pro175His)
c.698C>A (p.Pro233His)
n.562C>A
c.1874C>A (p.Pro625His)
c.1676C>A (p.Pro559His)
c.1649C>A (p.Pro550His)
c.1703C>A (p.Pro568His)
n.652C>A
n.5983C>A
c.1961C>A (p.Pro654His)
c.1787C>A (p.Pro596His)
c.1763C>A (p.Pro588His)
c.896C>A (p.Pro299His)
c.809C>A (p.Pro270His)
c.722C>A (p.Pro241His)
n.622C>A
17g.45996540C>GCA399978216MAPTc.611C>G (p.Pro204Arg)
c.524C>G (p.Pro175Arg)
c.698C>G (p.Pro233Arg)
n.562C>G
c.1874C>G (p.Pro625Arg)
c.1676C>G (p.Pro559Arg)
c.1649C>G (p.Pro550Arg)
c.1703C>G (p.Pro568Arg)
n.652C>G
n.5983C>G
c.1961C>G (p.Pro654Arg)
c.1787C>G (p.Pro596Arg)
c.1763C>G (p.Pro588Arg)
c.896C>G (p.Pro299Arg)
c.809C>G (p.Pro270Arg)
c.722C>G (p.Pro241Arg)
n.622C>G
17g.45996540C>TCA399978217MAPTc.611C>T (p.Pro204Leu)
c.524C>T (p.Pro175Leu)
c.698C>T (p.Pro233Leu)
n.562C>T
c.1874C>T (p.Pro625Leu)
c.1676C>T (p.Pro559Leu)
c.1649C>T (p.Pro550Leu)
c.1703C>T (p.Pro568Leu)
n.652C>T
n.5983C>T
c.1961C>T (p.Pro654Leu)
c.1787C>T (p.Pro596Leu)
c.1763C>T (p.Pro588Leu)
c.896C>T (p.Pro299Leu)
c.809C>T (p.Pro270Leu)
c.722C>T (p.Pro241Leu)
n.622C>T
17g.45996541C>ACA500644000MAPTc.612C>A (p.Pro204=)
c.525C>A (p.Pro175=)
c.699C>A (p.Pro233=)
n.563C>A
c.1875C>A (p.Pro625=)
c.1677C>A (p.Pro559=)
c.1650C>A (p.Pro550=)
c.1704C>A (p.Pro568=)
n.653C>A
n.5984C>A
c.1962C>A (p.Pro654=)
c.1788C>A (p.Pro596=)
c.1764C>A (p.Pro588=)
c.897C>A (p.Pro299=)
c.810C>A (p.Pro270=)
c.723C>A (p.Pro241=)
n.623C>A
17g.45996541C=CA2262095009MAPTc.612C= (p.Pro204=)
c.525C= (p.Pro175=)
c.699C= (p.Pro233=)
n.563C=
c.1875C= (p.Pro625=)
c.1677C= (p.Pro559=)
c.1650C= (p.Pro550=)
c.1704C= (p.Pro568=)
n.653C=
n.5984C=
c.1962C= (p.Pro654=)
c.1788C= (p.Pro596=)
c.1764C= (p.Pro588=)
c.897C= (p.Pro299=)
c.810C= (p.Pro270=)
c.723C= (p.Pro241=)
n.623C=
17g.45996541C>GCA500643999MAPTc.612C>G (p.Pro204=)
c.525C>G (p.Pro175=)
c.699C>G (p.Pro233=)
n.563C>G
c.1875C>G (p.Pro625=)
c.1677C>G (p.Pro559=)
c.1650C>G (p.Pro550=)
c.1704C>G (p.Pro568=)
n.653C>G
n.5984C>G
c.1962C>G (p.Pro654=)
c.1788C>G (p.Pro596=)
c.1764C>G (p.Pro588=)
c.897C>G (p.Pro299=)
c.810C>G (p.Pro270=)
c.723C>G (p.Pro241=)
n.623C>G
 dbSNP
17g.45996541C>TCA500644001MAPTc.612C>T (p.Pro204=)
c.525C>T (p.Pro175=)
c.699C>T (p.Pro233=)
n.563C>T
c.1875C>T (p.Pro625=)
c.1677C>T (p.Pro559=)
c.1650C>T (p.Pro550=)
c.1704C>T (p.Pro568=)
n.653C>T
n.5984C>T
c.1962C>T (p.Pro654=)
c.1788C>T (p.Pro596=)
c.1764C>T (p.Pro588=)
c.897C>T (p.Pro299=)
c.810C>T (p.Pro270=)
c.723C>T (p.Pro241=)
n.623C>T
 dbSNP
17g.45996542A>CCA399978218MAPTc.613A>C (p.Lys205Gln)
c.526A>C (p.Lys176Gln)
c.700A>C (p.Lys234Gln)
n.564A>C
c.1876A>C (p.Lys626Gln)
c.1678A>C (p.Lys560Gln)
c.1651A>C (p.Lys551Gln)
c.1705A>C (p.Lys569Gln)
n.654A>C
n.5985A>C
c.1963A>C (p.Lys655Gln)
c.1789A>C (p.Lys597Gln)
c.1765A>C (p.Lys589Gln)
c.898A>C (p.Lys300Gln)
c.811A>C (p.Lys271Gln)
c.724A>C (p.Lys242Gln)
n.624A>C
 gnomAD v4
17g.45996542A>GCA399978219MAPTc.613A>G (p.Lys205Glu)
c.526A>G (p.Lys176Glu)
c.700A>G (p.Lys234Glu)
n.564A>G
c.1876A>G (p.Lys626Glu)
c.1678A>G (p.Lys560Glu)
c.1651A>G (p.Lys551Glu)
c.1705A>G (p.Lys569Glu)
n.654A>G
n.5985A>G
c.1963A>G (p.Lys655Glu)
c.1789A>G (p.Lys597Glu)
c.1765A>G (p.Lys589Glu)
c.898A>G (p.Lys300Glu)
c.811A>G (p.Lys271Glu)
c.724A>G (p.Lys242Glu)
n.624A>G
 gnomAD v4
17g.45996542A>TCA399978220MAPTc.613A>T (p.Lys205Ter)
c.526A>T (p.Lys176Ter)
c.700A>T (p.Lys234Ter)
n.564A>T
c.1876A>T (p.Lys626Ter)
c.1678A>T (p.Lys560Ter)
c.1651A>T (p.Lys551Ter)
c.1705A>T (p.Lys569Ter)
n.654A>T
n.5985A>T
c.1963A>T (p.Lys655Ter)
c.1789A>T (p.Lys597Ter)
c.1765A>T (p.Lys589Ter)
c.898A>T (p.Lys300Ter)
c.811A>T (p.Lys271Ter)
c.724A>T (p.Lys242Ter)
n.624A>T
17g.45996543A>CCA399978221MAPTc.614A>C (p.Lys205Thr)
c.527A>C (p.Lys176Thr)
c.701A>C (p.Lys234Thr)
n.565A>C
c.1877A>C (p.Lys626Thr)
c.1679A>C (p.Lys560Thr)
c.1652A>C (p.Lys551Thr)
c.1706A>C (p.Lys569Thr)
n.655A>C
n.5986A>C
c.1964A>C (p.Lys655Thr)
c.1790A>C (p.Lys597Thr)
c.1766A>C (p.Lys589Thr)
c.899A>C (p.Lys300Thr)
c.812A>C (p.Lys271Thr)
c.725A>C (p.Lys242Thr)
n.625A>C
17g.45996543A>GCA399978222MAPTc.614A>G (p.Lys205Arg)
c.527A>G (p.Lys176Arg)
c.701A>G (p.Lys234Arg)
n.565A>G
c.1877A>G (p.Lys626Arg)
c.1679A>G (p.Lys560Arg)
c.1652A>G (p.Lys551Arg)
c.1706A>G (p.Lys569Arg)
n.655A>G
n.5986A>G
c.1964A>G (p.Lys655Arg)
c.1790A>G (p.Lys597Arg)
c.1766A>G (p.Lys589Arg)
c.899A>G (p.Lys300Arg)
c.812A>G (p.Lys271Arg)
c.725A>G (p.Lys242Arg)
n.625A>G
17g.45996543A>TCA399978223MAPTc.614A>T (p.Lys205Met)
c.527A>T (p.Lys176Met)
c.701A>T (p.Lys234Met)
n.565A>T
c.1877A>T (p.Lys626Met)
c.1679A>T (p.Lys560Met)
c.1652A>T (p.Lys551Met)
c.1706A>T (p.Lys569Met)
n.655A>T
n.5986A>T
c.1964A>T (p.Lys655Met)
c.1790A>T (p.Lys597Met)
c.1766A>T (p.Lys589Met)
c.899A>T (p.Lys300Met)
c.812A>T (p.Lys271Met)
c.725A>T (p.Lys242Met)
n.625A>T
17g.45996544G>ACA291107186MAPTc.615G>A (p.Lys205=)
c.528G>A (p.Lys176=)
c.702G>A (p.Lys234=)
n.566G>A
c.1878G>A (p.Lys626=)
c.1680G>A (p.Lys560=)
c.1653G>A (p.Lys551=)
c.1707G>A (p.Lys569=)
n.656G>A
n.5987G>A
c.1965G>A (p.Lys655=)
c.1791G>A (p.Lys597=)
c.1767G>A (p.Lys589=)
c.900G>A (p.Lys300=)
c.813G>A (p.Lys271=)
c.726G>A (p.Lys242=)
n.626G>A
 dbSNP
17g.45996544G>CCA399978225MAPTc.615G>C (p.Lys205Asn)
c.528G>C (p.Lys176Asn)
c.702G>C (p.Lys234Asn)
n.566G>C
c.1878G>C (p.Lys626Asn)
c.1680G>C (p.Lys560Asn)
c.1653G>C (p.Lys551Asn)
c.1707G>C (p.Lys569Asn)
n.656G>C
n.5987G>C
c.1965G>C (p.Lys655Asn)
c.1791G>C (p.Lys597Asn)
c.1767G>C (p.Lys589Asn)
c.900G>C (p.Lys300Asn)
c.813G>C (p.Lys271Asn)
c.726G>C (p.Lys242Asn)
n.626G>C
17g.45996544G=CA2262095010MAPTc.615G= (p.Lys205=)
c.528G= (p.Lys176=)
c.702G= (p.Lys234=)
n.566G=
c.1878G= (p.Lys626=)
c.1680G= (p.Lys560=)
c.1653G= (p.Lys551=)
c.1707G= (p.Lys569=)
n.656G=
n.5987G=
c.1965G= (p.Lys655=)
c.1791G= (p.Lys597=)
c.1767G= (p.Lys589=)
c.900G= (p.Lys300=)
c.813G= (p.Lys271=)
c.726G= (p.Lys242=)
n.626G=
17g.45996544G>TCA399978224MAPTc.615G>T (p.Lys205Asn)
c.528G>T (p.Lys176Asn)
c.702G>T (p.Lys234Asn)
n.566G>T
c.1878G>T (p.Lys626Asn)
c.1680G>T (p.Lys560Asn)
c.1653G>T (p.Lys551Asn)
c.1707G>T (p.Lys569Asn)
n.656G>T
n.5987G>T
c.1965G>T (p.Lys655Asn)
c.1791G>T (p.Lys597Asn)
c.1767G>T (p.Lys589Asn)
c.900G>T (p.Lys300Asn)
c.813G>T (p.Lys271Asn)
c.726G>T (p.Lys242Asn)
n.626G>T
17g.45996545T>ACA399978226MAPTc.616T>A (p.Ser206Thr)
c.529T>A (p.Ser177Thr)
c.703T>A (p.Ser235Thr)
n.567T>A
c.1879T>A (p.Ser627Thr)
c.1681T>A (p.Ser561Thr)
c.1654T>A (p.Ser552Thr)
c.1708T>A (p.Ser570Thr)
n.657T>A
n.5988T>A
c.1966T>A (p.Ser656Thr)
c.1792T>A (p.Ser598Thr)
c.1768T>A (p.Ser590Thr)
c.901T>A (p.Ser301Thr)
c.814T>A (p.Ser272Thr)
c.727T>A (p.Ser243Thr)
n.627T>A
17g.45996545T>CCA399978227MAPTc.616T>C (p.Ser206Pro)
c.529T>C (p.Ser177Pro)
c.703T>C (p.Ser235Pro)
n.567T>C
c.1879T>C (p.Ser627Pro)
c.1681T>C (p.Ser561Pro)
c.1654T>C (p.Ser552Pro)
c.1708T>C (p.Ser570Pro)
n.657T>C
n.5988T>C
c.1966T>C (p.Ser656Pro)
c.1792T>C (p.Ser598Pro)
c.1768T>C (p.Ser590Pro)
c.901T>C (p.Ser301Pro)
c.814T>C (p.Ser272Pro)
c.727T>C (p.Ser243Pro)
n.627T>C
17g.45996545T>GCA399978228MAPTc.616T>G (p.Ser206Ala)
c.529T>G (p.Ser177Ala)
c.703T>G (p.Ser235Ala)
n.567T>G
c.1879T>G (p.Ser627Ala)
c.1681T>G (p.Ser561Ala)
c.1654T>G (p.Ser552Ala)
c.1708T>G (p.Ser570Ala)
n.657T>G
n.5988T>G
c.1966T>G (p.Ser656Ala)
c.1792T>G (p.Ser598Ala)
c.1768T>G (p.Ser590Ala)
c.901T>G (p.Ser301Ala)
c.814T>G (p.Ser272Ala)
c.727T>G (p.Ser243Ala)
n.627T>G
17g.45996546C>ACA399978229MAPTc.617C>A (p.Ser206Ter)
c.530C>A (p.Ser177Ter)
c.704C>A (p.Ser235Ter)
n.568C>A
c.1880C>A (p.Ser627Ter)
c.1682C>A (p.Ser561Ter)
c.1655C>A (p.Ser552Ter)
c.1709C>A (p.Ser570Ter)
n.658C>A
n.5989C>A
c.1967C>A (p.Ser656Ter)
c.1793C>A (p.Ser598Ter)
c.1769C>A (p.Ser590Ter)
c.902C>A (p.Ser301Ter)
c.815C>A (p.Ser272Ter)
c.728C>A (p.Ser243Ter)
n.628C>A
17g.45996546C=CA2262095011MAPTc.617C= (p.Ser206=)
c.530C= (p.Ser177=)
c.704C= (p.Ser235=)
n.568C=
c.1880C= (p.Ser627=)
c.1682C= (p.Ser561=)
c.1655C= (p.Ser552=)
c.1709C= (p.Ser570=)
n.658C=
n.5989C=
c.1967C= (p.Ser656=)
c.1793C= (p.Ser598=)
c.1769C= (p.Ser590=)
c.902C= (p.Ser301=)
c.815C= (p.Ser272=)
c.728C= (p.Ser243=)
n.628C=
17g.45996546C>GCA399978230MAPTc.617C>G (p.Ser206Trp)
c.530C>G (p.Ser177Trp)
c.704C>G (p.Ser235Trp)
n.568C>G
c.1880C>G (p.Ser627Trp)
c.1682C>G (p.Ser561Trp)
c.1655C>G (p.Ser552Trp)
c.1709C>G (p.Ser570Trp)
n.658C>G
n.5989C>G
c.1967C>G (p.Ser656Trp)
c.1793C>G (p.Ser598Trp)
c.1769C>G (p.Ser590Trp)
c.902C>G (p.Ser301Trp)
c.815C>G (p.Ser272Trp)
c.728C>G (p.Ser243Trp)
n.628C>G
17g.45996546C>TCA399978231MAPTc.617C>T (p.Ser206Leu)
c.530C>T (p.Ser177Leu)
c.704C>T (p.Ser235Leu)
n.568C>T
c.1880C>T (p.Ser627Leu)
c.1682C>T (p.Ser561Leu)
c.1655C>T (p.Ser552Leu)
c.1709C>T (p.Ser570Leu)
n.658C>T
n.5989C>T
c.1967C>T (p.Ser656Leu)
c.1793C>T (p.Ser598Leu)
c.1769C>T (p.Ser590Leu)
c.902C>T (p.Ser301Leu)
c.815C>T (p.Ser272Leu)
c.728C>T (p.Ser243Leu)
n.628C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched