Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.45996425A>CCA399977984MAPTc.496A>C (p.Ser166Arg)
c.409A>C (p.Ser137Arg)
c.583A>C (p.Ser195Arg)
n.447A>C
c.1759A>C (p.Ser587Arg)
c.1561A>C (p.Ser521Arg)
c.1534A>C (p.Ser512Arg)
c.1588A>C (p.Ser530Arg)
n.537A>C
n.5868A>C
c.1846A>C (p.Ser616Arg)
c.1672A>C (p.Ser558Arg)
c.1648A>C (p.Ser550Arg)
c.781A>C (p.Ser261Arg)
c.694A>C (p.Ser232Arg)
c.607A>C (p.Ser203Arg)
n.591-84A>C
17g.45996425A>GCA399977985MAPTc.496A>G (p.Ser166Gly)
c.409A>G (p.Ser137Gly)
c.583A>G (p.Ser195Gly)
n.447A>G
c.1759A>G (p.Ser587Gly)
c.1561A>G (p.Ser521Gly)
c.1534A>G (p.Ser512Gly)
c.1588A>G (p.Ser530Gly)
n.537A>G
n.5868A>G
c.1846A>G (p.Ser616Gly)
c.1672A>G (p.Ser558Gly)
c.1648A>G (p.Ser550Gly)
c.781A>G (p.Ser261Gly)
c.694A>G (p.Ser232Gly)
c.607A>G (p.Ser203Gly)
n.591-84A>G
17g.45996425A>TCA399977986MAPTc.496A>T (p.Ser166Cys)
c.409A>T (p.Ser137Cys)
c.583A>T (p.Ser195Cys)
n.447A>T
c.1759A>T (p.Ser587Cys)
c.1561A>T (p.Ser521Cys)
c.1534A>T (p.Ser512Cys)
c.1588A>T (p.Ser530Cys)
n.537A>T
n.5868A>T
c.1846A>T (p.Ser616Cys)
c.1672A>T (p.Ser558Cys)
c.1648A>T (p.Ser550Cys)
c.781A>T (p.Ser261Cys)
c.694A>T (p.Ser232Cys)
c.607A>T (p.Ser203Cys)
n.591-84A>T
17g.45996426G>ACA399977987MAPTc.497G>A (p.Ser166Asn)
c.410G>A (p.Ser137Asn)
c.584G>A (p.Ser195Asn)
n.448G>A
c.1760G>A (p.Ser587Asn)
c.1562G>A (p.Ser521Asn)
c.1535G>A (p.Ser512Asn)
c.1589G>A (p.Ser530Asn)
n.538G>A
n.5869G>A
c.1847G>A (p.Ser616Asn)
c.1673G>A (p.Ser558Asn)
c.1649G>A (p.Ser550Asn)
c.782G>A (p.Ser261Asn)
c.695G>A (p.Ser232Asn)
c.608G>A (p.Ser203Asn)
n.591-83G>A
17g.45996426G>CCA399977988MAPTc.497G>C (p.Ser166Thr)
c.410G>C (p.Ser137Thr)
c.584G>C (p.Ser195Thr)
n.448G>C
c.1760G>C (p.Ser587Thr)
c.1562G>C (p.Ser521Thr)
c.1535G>C (p.Ser512Thr)
c.1589G>C (p.Ser530Thr)
n.538G>C
n.5869G>C
c.1847G>C (p.Ser616Thr)
c.1673G>C (p.Ser558Thr)
c.1649G>C (p.Ser550Thr)
c.782G>C (p.Ser261Thr)
c.695G>C (p.Ser232Thr)
c.608G>C (p.Ser203Thr)
n.591-83G>C
17g.45996426G>TCA399977989MAPTc.497G>T (p.Ser166Ile)
c.410G>T (p.Ser137Ile)
c.584G>T (p.Ser195Ile)
n.448G>T
c.1760G>T (p.Ser587Ile)
c.1562G>T (p.Ser521Ile)
c.1535G>T (p.Ser512Ile)
c.1589G>T (p.Ser530Ile)
n.538G>T
n.5869G>T
c.1847G>T (p.Ser616Ile)
c.1673G>T (p.Ser558Ile)
c.1649G>T (p.Ser550Ile)
c.782G>T (p.Ser261Ile)
c.695G>T (p.Ser232Ile)
c.608G>T (p.Ser203Ile)
n.591-83G>T
17g.45996427C>ACA399977990MAPTc.498C>A (p.Ser166Arg)
c.411C>A (p.Ser137Arg)
c.585C>A (p.Ser195Arg)
n.449C>A
c.1761C>A (p.Ser587Arg)
c.1563C>A (p.Ser521Arg)
c.1536C>A (p.Ser512Arg)
c.1590C>A (p.Ser530Arg)
n.539C>A
n.5870C>A
c.1848C>A (p.Ser616Arg)
c.1674C>A (p.Ser558Arg)
c.1650C>A (p.Ser550Arg)
c.783C>A (p.Ser261Arg)
c.696C>A (p.Ser232Arg)
c.609C>A (p.Ser203Arg)
n.591-82C>A
17g.45996427C=CA2262094965MAPTc.498C= (p.Ser166=)
c.411C= (p.Ser137=)
c.585C= (p.Ser195=)
n.449C=
c.1761C= (p.Ser587=)
c.1563C= (p.Ser521=)
c.1536C= (p.Ser512=)
c.1590C= (p.Ser530=)
n.539C=
n.5870C=
c.1848C= (p.Ser616=)
c.1674C= (p.Ser558=)
c.1650C= (p.Ser550=)
c.783C= (p.Ser261=)
c.696C= (p.Ser232=)
c.609C= (p.Ser203=)
n.591-82C=
17g.45996427C>GCA399977991MAPTc.498C>G (p.Ser166Arg)
c.411C>G (p.Ser137Arg)
c.585C>G (p.Ser195Arg)
n.449C>G
c.1761C>G (p.Ser587Arg)
c.1563C>G (p.Ser521Arg)
c.1536C>G (p.Ser512Arg)
c.1590C>G (p.Ser530Arg)
n.539C>G
n.5870C>G
c.1848C>G (p.Ser616Arg)
c.1674C>G (p.Ser558Arg)
c.1650C>G (p.Ser550Arg)
c.783C>G (p.Ser261Arg)
c.696C>G (p.Ser232Arg)
c.609C>G (p.Ser203Arg)
n.591-82C>G
17g.45996427C>TCA8618026MAPTc.498C>T (p.Ser166=)
c.411C>T (p.Ser137=)
c.585C>T (p.Ser195=)
n.449C>T
c.1761C>T (p.Ser587=)
c.1563C>T (p.Ser521=)
c.1536C>T (p.Ser512=)
c.1590C>T (p.Ser530=)
n.539C>T
n.5870C>T
c.1848C>T (p.Ser616=)
c.1674C>T (p.Ser558=)
c.1650C>T (p.Ser550=)
c.783C>T (p.Ser261=)
c.696C>T (p.Ser232=)
c.609C>T (p.Ser203=)
n.591-82C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.45996428G>ACA399977993MAPTc.499G>A (p.Gly167Ser)
c.412G>A (p.Gly138Ser)
c.586G>A (p.Gly196Ser)
n.450G>A
c.1762G>A (p.Gly588Ser)
c.1564G>A (p.Gly522Ser)
c.1537G>A (p.Gly513Ser)
c.1591G>A (p.Gly531Ser)
n.540G>A
n.5871G>A
c.1849G>A (p.Gly617Ser)
c.1675G>A (p.Gly559Ser)
c.1651G>A (p.Gly551Ser)
c.784G>A (p.Gly262Ser)
c.697G>A (p.Gly233Ser)
c.610G>A (p.Gly204Ser)
n.591-81G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.45996428G>CCA399977994MAPTc.499G>C (p.Gly167Arg)
c.412G>C (p.Gly138Arg)
c.586G>C (p.Gly196Arg)
n.450G>C
c.1762G>C (p.Gly588Arg)
c.1564G>C (p.Gly522Arg)
c.1537G>C (p.Gly513Arg)
c.1591G>C (p.Gly531Arg)
n.540G>C
n.5871G>C
c.1849G>C (p.Gly617Arg)
c.1675G>C (p.Gly559Arg)
c.1651G>C (p.Gly551Arg)
c.784G>C (p.Gly262Arg)
c.697G>C (p.Gly233Arg)
c.610G>C (p.Gly204Arg)
n.591-81G>C
17g.45996428G=CA2262094966MAPTc.499G= (p.Gly167=)
c.412G= (p.Gly138=)
c.586G= (p.Gly196=)
n.450G=
c.1762G= (p.Gly588=)
c.1564G= (p.Gly522=)
c.1537G= (p.Gly513=)
c.1591G= (p.Gly531=)
n.540G=
n.5871G=
c.1849G= (p.Gly617=)
c.1675G= (p.Gly559=)
c.1651G= (p.Gly551=)
c.784G= (p.Gly262=)
c.697G= (p.Gly233=)
c.610G= (p.Gly204=)
n.591-81G=
17g.45996428G>TCA399977992MAPTc.499G>T (p.Gly167Cys)
c.412G>T (p.Gly138Cys)
c.586G>T (p.Gly196Cys)
n.450G>T
c.1762G>T (p.Gly588Cys)
c.1564G>T (p.Gly522Cys)
c.1537G>T (p.Gly513Cys)
c.1591G>T (p.Gly531Cys)
n.540G>T
n.5871G>T
c.1849G>T (p.Gly617Cys)
c.1675G>T (p.Gly559Cys)
c.1651G>T (p.Gly551Cys)
c.784G>T (p.Gly262Cys)
c.697G>T (p.Gly233Cys)
c.610G>T (p.Gly204Cys)
n.591-81G>T
17g.45996429G>ACA399977995MAPTc.500G>A (p.Gly167Asp)
c.413G>A (p.Gly138Asp)
c.587G>A (p.Gly196Asp)
n.451G>A
c.1763G>A (p.Gly588Asp)
c.1565G>A (p.Gly522Asp)
c.1538G>A (p.Gly513Asp)
c.1592G>A (p.Gly531Asp)
n.541G>A
n.5872G>A
c.1850G>A (p.Gly617Asp)
c.1676G>A (p.Gly559Asp)
c.1652G>A (p.Gly551Asp)
c.785G>A (p.Gly262Asp)
c.698G>A (p.Gly233Asp)
c.611G>A (p.Gly204Asp)
n.591-80G>A
17g.45996429G>CCA399977996MAPTc.500G>C (p.Gly167Ala)
c.413G>C (p.Gly138Ala)
c.587G>C (p.Gly196Ala)
n.451G>C
c.1763G>C (p.Gly588Ala)
c.1565G>C (p.Gly522Ala)
c.1538G>C (p.Gly513Ala)
c.1592G>C (p.Gly531Ala)
n.541G>C
n.5872G>C
c.1850G>C (p.Gly617Ala)
c.1676G>C (p.Gly559Ala)
c.1652G>C (p.Gly551Ala)
c.785G>C (p.Gly262Ala)
c.698G>C (p.Gly233Ala)
c.611G>C (p.Gly204Ala)
n.591-80G>C
 gnomAD v4
17g.45996429G>TCA399977997MAPTc.500G>T (p.Gly167Val)
c.413G>T (p.Gly138Val)
c.587G>T (p.Gly196Val)
n.451G>T
c.1763G>T (p.Gly588Val)
c.1565G>T (p.Gly522Val)
c.1538G>T (p.Gly513Val)
c.1592G>T (p.Gly531Val)
n.541G>T
n.5872G>T
c.1850G>T (p.Gly617Val)
c.1676G>T (p.Gly559Val)
c.1652G>T (p.Gly551Val)
c.785G>T (p.Gly262Val)
c.698G>T (p.Gly233Val)
c.611G>T (p.Gly204Val)
n.591-80G>T
17g.45996430C>ACA500643913MAPTc.501C>A (p.Gly167=)
c.414C>A (p.Gly138=)
c.588C>A (p.Gly196=)
n.452C>A
c.1764C>A (p.Gly588=)
c.1566C>A (p.Gly522=)
c.1539C>A (p.Gly513=)
c.1593C>A (p.Gly531=)
n.542C>A
n.5873C>A
c.1851C>A (p.Gly617=)
c.1677C>A (p.Gly559=)
c.1653C>A (p.Gly551=)
c.786C>A (p.Gly262=)
c.699C>A (p.Gly233=)
c.612C>A (p.Gly204=)
n.591-79C>A
17g.45996430C=CA2262094967MAPTc.501C= (p.Gly167=)
c.414C= (p.Gly138=)
c.588C= (p.Gly196=)
n.452C=
c.1764C= (p.Gly588=)
c.1566C= (p.Gly522=)
c.1539C= (p.Gly513=)
c.1593C= (p.Gly531=)
n.542C=
n.5873C=
c.1851C= (p.Gly617=)
c.1677C= (p.Gly559=)
c.1653C= (p.Gly551=)
c.786C= (p.Gly262=)
c.699C= (p.Gly233=)
c.612C= (p.Gly204=)
n.591-79C=
17g.45996430C>GCA8618027MAPTc.501C>G (p.Gly167=)
c.414C>G (p.Gly138=)
c.588C>G (p.Gly196=)
n.452C>G
c.1764C>G (p.Gly588=)
c.1566C>G (p.Gly522=)
c.1539C>G (p.Gly513=)
c.1593C>G (p.Gly531=)
n.542C>G
n.5873C>G
c.1851C>G (p.Gly617=)
c.1677C>G (p.Gly559=)
c.1653C>G (p.Gly551=)
c.786C>G (p.Gly262=)
c.699C>G (p.Gly233=)
c.612C>G (p.Gly204=)
n.591-79C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996430C>TCA500643914MAPTc.501C>T (p.Gly167=)
c.414C>T (p.Gly138=)
c.588C>T (p.Gly196=)
n.452C>T
c.1764C>T (p.Gly588=)
c.1566C>T (p.Gly522=)
c.1539C>T (p.Gly513=)
c.1593C>T (p.Gly531=)
n.542C>T
n.5873C>T
c.1851C>T (p.Gly617=)
c.1677C>T (p.Gly559=)
c.1653C>T (p.Gly551=)
c.786C>T (p.Gly262=)
c.699C>T (p.Gly233=)
c.612C>T (p.Gly204=)
n.591-79C>T
17g.45996431T>ACA399977998MAPTc.502T>A (p.Tyr168Asn)
c.415T>A (p.Tyr139Asn)
c.589T>A (p.Tyr197Asn)
n.453T>A
c.1765T>A (p.Tyr589Asn)
c.1567T>A (p.Tyr523Asn)
c.1540T>A (p.Tyr514Asn)
c.1594T>A (p.Tyr532Asn)
n.543T>A
n.5874T>A
c.1852T>A (p.Tyr618Asn)
c.1678T>A (p.Tyr560Asn)
c.1654T>A (p.Tyr552Asn)
c.787T>A (p.Tyr263Asn)
c.700T>A (p.Tyr234Asn)
c.613T>A (p.Tyr205Asn)
n.591-78T>A
17g.45996431T>CCA399977999MAPTc.502T>C (p.Tyr168His)
c.415T>C (p.Tyr139His)
c.589T>C (p.Tyr197His)
n.453T>C
c.1765T>C (p.Tyr589His)
c.1567T>C (p.Tyr523His)
c.1540T>C (p.Tyr514His)
c.1594T>C (p.Tyr532His)
n.543T>C
n.5874T>C
c.1852T>C (p.Tyr618His)
c.1678T>C (p.Tyr560His)
c.1654T>C (p.Tyr552His)
c.787T>C (p.Tyr263His)
c.700T>C (p.Tyr234His)
c.613T>C (p.Tyr205His)
n.591-78T>C
17g.45996431T>GCA399978000MAPTc.502T>G (p.Tyr168Asp)
c.415T>G (p.Tyr139Asp)
c.589T>G (p.Tyr197Asp)
n.453T>G
c.1765T>G (p.Tyr589Asp)
c.1567T>G (p.Tyr523Asp)
c.1540T>G (p.Tyr514Asp)
c.1594T>G (p.Tyr532Asp)
n.543T>G
n.5874T>G
c.1852T>G (p.Tyr618Asp)
c.1678T>G (p.Tyr560Asp)
c.1654T>G (p.Tyr552Asp)
c.787T>G (p.Tyr263Asp)
c.700T>G (p.Tyr234Asp)
c.613T>G (p.Tyr205Asp)
n.591-78T>G
17g.45996432A>CCA399978001MAPTc.503A>C (p.Tyr168Ser)
c.416A>C (p.Tyr139Ser)
c.590A>C (p.Tyr197Ser)
n.454A>C
c.1766A>C (p.Tyr589Ser)
c.1568A>C (p.Tyr523Ser)
c.1541A>C (p.Tyr514Ser)
c.1595A>C (p.Tyr532Ser)
n.544A>C
n.5875A>C
c.1853A>C (p.Tyr618Ser)
c.1679A>C (p.Tyr560Ser)
c.1655A>C (p.Tyr552Ser)
c.788A>C (p.Tyr263Ser)
c.701A>C (p.Tyr234Ser)
c.614A>C (p.Tyr205Ser)
n.591-77A>C
17g.45996432A>GCA399978003MAPTc.503A>G (p.Tyr168Cys)
c.416A>G (p.Tyr139Cys)
c.590A>G (p.Tyr197Cys)
n.454A>G
c.1766A>G (p.Tyr589Cys)
c.1568A>G (p.Tyr523Cys)
c.1541A>G (p.Tyr514Cys)
c.1595A>G (p.Tyr532Cys)
n.544A>G
n.5875A>G
c.1853A>G (p.Tyr618Cys)
c.1679A>G (p.Tyr560Cys)
c.1655A>G (p.Tyr552Cys)
c.788A>G (p.Tyr263Cys)
c.701A>G (p.Tyr234Cys)
c.614A>G (p.Tyr205Cys)
n.591-77A>G
17g.45996432A>TCA399978004MAPTc.503A>T (p.Tyr168Phe)
c.416A>T (p.Tyr139Phe)
c.590A>T (p.Tyr197Phe)
n.454A>T
c.1766A>T (p.Tyr589Phe)
c.1568A>T (p.Tyr523Phe)
c.1541A>T (p.Tyr514Phe)
c.1595A>T (p.Tyr532Phe)
n.544A>T
n.5875A>T
c.1853A>T (p.Tyr618Phe)
c.1679A>T (p.Tyr560Phe)
c.1655A>T (p.Tyr552Phe)
c.788A>T (p.Tyr263Phe)
c.701A>T (p.Tyr234Phe)
c.614A>T (p.Tyr205Phe)
n.591-77A>T
17g.45996433C>ACA8618028MAPTc.504C>A (p.Tyr168Ter)
c.417C>A (p.Tyr139Ter)
c.591C>A (p.Tyr197Ter)
n.455C>A
c.1767C>A (p.Tyr589Ter)
c.1569C>A (p.Tyr523Ter)
c.1542C>A (p.Tyr514Ter)
c.1596C>A (p.Tyr532Ter)
n.545C>A
n.5876C>A
c.1854C>A (p.Tyr618Ter)
c.1680C>A (p.Tyr560Ter)
c.1656C>A (p.Tyr552Ter)
c.789C>A (p.Tyr263Ter)
c.702C>A (p.Tyr234Ter)
c.615C>A (p.Tyr205Ter)
n.591-76C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.45996433C=CA2262094968MAPTc.504C= (p.Tyr168=)
c.417C= (p.Tyr139=)
c.591C= (p.Tyr197=)
n.455C=
c.1767C= (p.Tyr589=)
c.1569C= (p.Tyr523=)
c.1542C= (p.Tyr514=)
c.1596C= (p.Tyr532=)
n.545C=
n.5876C=
c.1854C= (p.Tyr618=)
c.1680C= (p.Tyr560=)
c.1656C= (p.Tyr552=)
c.789C= (p.Tyr263=)
c.702C= (p.Tyr234=)
c.615C= (p.Tyr205=)
n.591-76C=
17g.45996433C>GCA399978005MAPTc.504C>G (p.Tyr168Ter)
c.417C>G (p.Tyr139Ter)
c.591C>G (p.Tyr197Ter)
n.455C>G
c.1767C>G (p.Tyr589Ter)
c.1569C>G (p.Tyr523Ter)
c.1542C>G (p.Tyr514Ter)
c.1596C>G (p.Tyr532Ter)
n.545C>G
n.5876C>G
c.1854C>G (p.Tyr618Ter)
c.1680C>G (p.Tyr560Ter)
c.1656C>G (p.Tyr552Ter)
c.789C>G (p.Tyr263Ter)
c.702C>G (p.Tyr234Ter)
c.615C>G (p.Tyr205Ter)
n.591-76C>G
17g.45996433C>TCA8618029MAPTc.504C>T (p.Tyr168=)
c.417C>T (p.Tyr139=)
c.591C>T (p.Tyr197=)
n.455C>T
c.1767C>T (p.Tyr589=)
c.1569C>T (p.Tyr523=)
c.1542C>T (p.Tyr514=)
c.1596C>T (p.Tyr532=)
n.545C>T
n.5876C>T
c.1854C>T (p.Tyr618=)
c.1680C>T (p.Tyr560=)
c.1656C>T (p.Tyr552=)
c.789C>T (p.Tyr263=)
c.702C>T (p.Tyr234=)
c.615C>T (p.Tyr205=)
n.591-76C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.45996434A>CCA399978008MAPTc.505A>C (p.Ser169Arg)
c.418A>C (p.Ser140Arg)
c.592A>C (p.Ser198Arg)
n.456A>C
c.1768A>C (p.Ser590Arg)
c.1570A>C (p.Ser524Arg)
c.1543A>C (p.Ser515Arg)
c.1597A>C (p.Ser533Arg)
n.546A>C
n.5877A>C
c.1855A>C (p.Ser619Arg)
c.1681A>C (p.Ser561Arg)
c.1657A>C (p.Ser553Arg)
c.790A>C (p.Ser264Arg)
c.703A>C (p.Ser235Arg)
c.616A>C (p.Ser206Arg)
n.591-75A>C
17g.45996434A>GCA399978007MAPTc.505A>G (p.Ser169Gly)
c.418A>G (p.Ser140Gly)
c.592A>G (p.Ser198Gly)
n.456A>G
c.1768A>G (p.Ser590Gly)
c.1570A>G (p.Ser524Gly)
c.1543A>G (p.Ser515Gly)
c.1597A>G (p.Ser533Gly)
n.546A>G
n.5877A>G
c.1855A>G (p.Ser619Gly)
c.1681A>G (p.Ser561Gly)
c.1657A>G (p.Ser553Gly)
c.790A>G (p.Ser264Gly)
c.703A>G (p.Ser235Gly)
c.616A>G (p.Ser206Gly)
n.591-75A>G
17g.45996434A>TCA399978006MAPTc.505A>T (p.Ser169Cys)
c.418A>T (p.Ser140Cys)
c.592A>T (p.Ser198Cys)
n.456A>T
c.1768A>T (p.Ser590Cys)
c.1570A>T (p.Ser524Cys)
c.1543A>T (p.Ser515Cys)
c.1597A>T (p.Ser533Cys)
n.546A>T
n.5877A>T
c.1855A>T (p.Ser619Cys)
c.1681A>T (p.Ser561Cys)
c.1657A>T (p.Ser553Cys)
c.790A>T (p.Ser264Cys)
c.703A>T (p.Ser235Cys)
c.616A>T (p.Ser206Cys)
n.591-75A>T
17g.45996435G>ACA399978009MAPTc.506G>A (p.Ser169Asn)
c.419G>A (p.Ser140Asn)
c.593G>A (p.Ser198Asn)
n.457G>A
c.1769G>A (p.Ser590Asn)
c.1571G>A (p.Ser524Asn)
c.1544G>A (p.Ser515Asn)
c.1598G>A (p.Ser533Asn)
n.547G>A
n.5878G>A
c.1856G>A (p.Ser619Asn)
c.1682G>A (p.Ser561Asn)
c.1658G>A (p.Ser553Asn)
c.791G>A (p.Ser264Asn)
c.704G>A (p.Ser235Asn)
c.617G>A (p.Ser206Asn)
n.591-74G>A
 gnomAD v4
17g.45996435G>CCA399978010MAPTc.506G>C (p.Ser169Thr)
c.419G>C (p.Ser140Thr)
c.593G>C (p.Ser198Thr)
n.457G>C
c.1769G>C (p.Ser590Thr)
c.1571G>C (p.Ser524Thr)
c.1544G>C (p.Ser515Thr)
c.1598G>C (p.Ser533Thr)
n.547G>C
n.5878G>C
c.1856G>C (p.Ser619Thr)
c.1682G>C (p.Ser561Thr)
c.1658G>C (p.Ser553Thr)
c.791G>C (p.Ser264Thr)
c.704G>C (p.Ser235Thr)
c.617G>C (p.Ser206Thr)
n.591-74G>C
17g.45996435G>TCA399978011MAPTc.506G>T (p.Ser169Ile)
c.419G>T (p.Ser140Ile)
c.593G>T (p.Ser198Ile)
n.457G>T
c.1769G>T (p.Ser590Ile)
c.1571G>T (p.Ser524Ile)
c.1544G>T (p.Ser515Ile)
c.1598G>T (p.Ser533Ile)
n.547G>T
n.5878G>T
c.1856G>T (p.Ser619Ile)
c.1682G>T (p.Ser561Ile)
c.1658G>T (p.Ser553Ile)
c.791G>T (p.Ser264Ile)
c.704G>T (p.Ser235Ile)
c.617G>T (p.Ser206Ile)
n.591-74G>T
17g.45996436C>ACA399978012MAPTc.507C>A (p.Ser169Arg)
c.420C>A (p.Ser140Arg)
c.594C>A (p.Ser198Arg)
n.458C>A
c.1770C>A (p.Ser590Arg)
c.1572C>A (p.Ser524Arg)
c.1545C>A (p.Ser515Arg)
c.1599C>A (p.Ser533Arg)
n.548C>A
n.5879C>A
c.1857C>A (p.Ser619Arg)
c.1683C>A (p.Ser561Arg)
c.1659C>A (p.Ser553Arg)
c.792C>A (p.Ser264Arg)
c.705C>A (p.Ser235Arg)
c.618C>A (p.Ser206Arg)
n.591-73C>A
17g.45996436C>GCA399978013MAPTc.507C>G (p.Ser169Arg)
c.420C>G (p.Ser140Arg)
c.594C>G (p.Ser198Arg)
n.458C>G
c.1770C>G (p.Ser590Arg)
c.1572C>G (p.Ser524Arg)
c.1545C>G (p.Ser515Arg)
c.1599C>G (p.Ser533Arg)
n.548C>G
n.5879C>G
c.1857C>G (p.Ser619Arg)
c.1683C>G (p.Ser561Arg)
c.1659C>G (p.Ser553Arg)
c.792C>G (p.Ser264Arg)
c.705C>G (p.Ser235Arg)
c.618C>G (p.Ser206Arg)
n.591-73C>G
17g.45996436C>TCA500643915MAPTc.507C>T (p.Ser169=)
c.420C>T (p.Ser140=)
c.594C>T (p.Ser198=)
n.458C>T
c.1770C>T (p.Ser590=)
c.1572C>T (p.Ser524=)
c.1545C>T (p.Ser515=)
c.1599C>T (p.Ser533=)
n.548C>T
n.5879C>T
c.1857C>T (p.Ser619=)
c.1683C>T (p.Ser561=)
c.1659C>T (p.Ser553=)
c.792C>T (p.Ser264=)
c.705C>T (p.Ser235=)
c.618C>T (p.Ser206=)
n.591-73C>T
 gnomAD v4
17g.45996437A>CCA399978014MAPTc.508A>C (p.Ser170Arg)
c.421A>C (p.Ser141Arg)
c.595A>C (p.Ser199Arg)
n.459A>C
c.1771A>C (p.Ser591Arg)
c.1573A>C (p.Ser525Arg)
c.1546A>C (p.Ser516Arg)
c.1600A>C (p.Ser534Arg)
n.549A>C
n.5880A>C
c.1858A>C (p.Ser620Arg)
c.1684A>C (p.Ser562Arg)
c.1660A>C (p.Ser554Arg)
c.793A>C (p.Ser265Arg)
c.706A>C (p.Ser236Arg)
c.619A>C (p.Ser207Arg)
n.591-72A>C
17g.45996437A>GCA399978015MAPTc.508A>G (p.Ser170Gly)
c.421A>G (p.Ser141Gly)
c.595A>G (p.Ser199Gly)
n.459A>G
c.1771A>G (p.Ser591Gly)
c.1573A>G (p.Ser525Gly)
c.1546A>G (p.Ser516Gly)
c.1600A>G (p.Ser534Gly)
n.549A>G
n.5880A>G
c.1858A>G (p.Ser620Gly)
c.1684A>G (p.Ser562Gly)
c.1660A>G (p.Ser554Gly)
c.793A>G (p.Ser265Gly)
c.706A>G (p.Ser236Gly)
c.619A>G (p.Ser207Gly)
n.591-72A>G
17g.45996437A>TCA399978016MAPTc.508A>T (p.Ser170Cys)
c.421A>T (p.Ser141Cys)
c.595A>T (p.Ser199Cys)
n.459A>T
c.1771A>T (p.Ser591Cys)
c.1573A>T (p.Ser525Cys)
c.1546A>T (p.Ser516Cys)
c.1600A>T (p.Ser534Cys)
n.549A>T
n.5880A>T
c.1858A>T (p.Ser620Cys)
c.1684A>T (p.Ser562Cys)
c.1660A>T (p.Ser554Cys)
c.793A>T (p.Ser265Cys)
c.706A>T (p.Ser236Cys)
c.619A>T (p.Ser207Cys)
n.591-72A>T
17g.45996438G>ACA399978017MAPTc.509G>A (p.Ser170Asn)
c.422G>A (p.Ser141Asn)
c.596G>A (p.Ser199Asn)
n.460G>A
c.1772G>A (p.Ser591Asn)
c.1574G>A (p.Ser525Asn)
c.1547G>A (p.Ser516Asn)
c.1601G>A (p.Ser534Asn)
n.550G>A
n.5881G>A
c.1859G>A (p.Ser620Asn)
c.1685G>A (p.Ser562Asn)
c.1661G>A (p.Ser554Asn)
c.794G>A (p.Ser265Asn)
c.707G>A (p.Ser236Asn)
c.620G>A (p.Ser207Asn)
n.591-71G>A
17g.45996438G>CCA399978018MAPTc.509G>C (p.Ser170Thr)
c.422G>C (p.Ser141Thr)
c.596G>C (p.Ser199Thr)
n.460G>C
c.1772G>C (p.Ser591Thr)
c.1574G>C (p.Ser525Thr)
c.1547G>C (p.Ser516Thr)
c.1601G>C (p.Ser534Thr)
n.550G>C
n.5881G>C
c.1859G>C (p.Ser620Thr)
c.1685G>C (p.Ser562Thr)
c.1661G>C (p.Ser554Thr)
c.794G>C (p.Ser265Thr)
c.707G>C (p.Ser236Thr)
c.620G>C (p.Ser207Thr)
n.591-71G>C
17g.45996438G>TCA399978019MAPTc.509G>T (p.Ser170Ile)
c.422G>T (p.Ser141Ile)
c.596G>T (p.Ser199Ile)
n.460G>T
c.1772G>T (p.Ser591Ile)
c.1574G>T (p.Ser525Ile)
c.1547G>T (p.Ser516Ile)
c.1601G>T (p.Ser534Ile)
n.550G>T
n.5881G>T
c.1859G>T (p.Ser620Ile)
c.1685G>T (p.Ser562Ile)
c.1661G>T (p.Ser554Ile)
c.794G>T (p.Ser265Ile)
c.707G>T (p.Ser236Ile)
c.620G>T (p.Ser207Ile)
n.591-71G>T
17g.45996439C>ACA399978020MAPTc.510C>A (p.Ser170Arg)
c.423C>A (p.Ser141Arg)
c.597C>A (p.Ser199Arg)
n.461C>A
c.1773C>A (p.Ser591Arg)
c.1575C>A (p.Ser525Arg)
c.1548C>A (p.Ser516Arg)
c.1602C>A (p.Ser534Arg)
n.551C>A
n.5882C>A
c.1860C>A (p.Ser620Arg)
c.1686C>A (p.Ser562Arg)
c.1662C>A (p.Ser554Arg)
c.795C>A (p.Ser265Arg)
c.708C>A (p.Ser236Arg)
c.621C>A (p.Ser207Arg)
n.591-70C>A
17g.45996439C>GCA399978021MAPTc.510C>G (p.Ser170Arg)
c.423C>G (p.Ser141Arg)
c.597C>G (p.Ser199Arg)
n.461C>G
c.1773C>G (p.Ser591Arg)
c.1575C>G (p.Ser525Arg)
c.1548C>G (p.Ser516Arg)
c.1602C>G (p.Ser534Arg)
n.551C>G
n.5882C>G
c.1860C>G (p.Ser620Arg)
c.1686C>G (p.Ser562Arg)
c.1662C>G (p.Ser554Arg)
c.795C>G (p.Ser265Arg)
c.708C>G (p.Ser236Arg)
c.621C>G (p.Ser207Arg)
n.591-70C>G
17g.45996439C>TCA500643916MAPTc.510C>T (p.Ser170=)
c.423C>T (p.Ser141=)
c.597C>T (p.Ser199=)
n.461C>T
c.1773C>T (p.Ser591=)
c.1575C>T (p.Ser525=)
c.1548C>T (p.Ser516=)
c.1602C>T (p.Ser534=)
n.551C>T
n.5882C>T
c.1860C>T (p.Ser620=)
c.1686C>T (p.Ser562=)
c.1662C>T (p.Ser554=)
c.795C>T (p.Ser265=)
c.708C>T (p.Ser236=)
c.621C>T (p.Ser207=)
n.591-70C>T
17g.45996440C>ACA399978024MAPTc.511C>A (p.Pro171Thr)
c.424C>A (p.Pro142Thr)
c.598C>A (p.Pro200Thr)
n.462C>A
c.1774C>A (p.Pro592Thr)
c.1576C>A (p.Pro526Thr)
c.1549C>A (p.Pro517Thr)
c.1603C>A (p.Pro535Thr)
n.552C>A
n.5883C>A
c.1861C>A (p.Pro621Thr)
c.1687C>A (p.Pro563Thr)
c.1663C>A (p.Pro555Thr)
c.796C>A (p.Pro266Thr)
c.709C>A (p.Pro237Thr)
c.622C>A (p.Pro208Thr)
n.591-69C>A

Number of alleles fetched