Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.93923597T>ACA371697894PDP1c.1538T>A (p.Met513Lys)
c.1613T>A (p.Met538Lys)
c.1592T>A (p.Met531Lys)
c.1700T>A (p.Met567Lys)
8g.93923597T>CCA371697899PDP1c.1538T>C (p.Met513Thr)
c.1613T>C (p.Met538Thr)
c.1592T>C (p.Met531Thr)
c.1700T>C (p.Met567Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.93923597T>GCA371697897PDP1c.1538T>G (p.Met513Arg)
c.1613T>G (p.Met538Arg)
c.1592T>G (p.Met531Arg)
c.1700T>G (p.Met567Arg)
8g.93923597T=CA1803281012PDP1c.1538T= (p.Met513=)
c.1613T= (p.Met538=)
c.1592T= (p.Met531=)
c.1700T= (p.Met567=)
8g.93923598G>ACA371697901PDP1c.1539G>A (p.Met513Ile)
c.1614G>A (p.Met538Ile)
c.1593G>A (p.Met531Ile)
c.1701G>A (p.Met567Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.93923598G>CCA371697903PDP1c.1539G>C (p.Met513Ile)
c.1614G>C (p.Met538Ile)
c.1593G>C (p.Met531Ile)
c.1701G>C (p.Met567Ile)
8g.93923598G=CA1803281013PDP1c.1539G= (p.Met513=)
c.1614G= (p.Met538=)
c.1593G= (p.Met531=)
c.1701G= (p.Met567=)
8g.93923598G>TCA371697906PDP1c.1539G>T (p.Met513Ile)
c.1614G>T (p.Met538Ile)
c.1593G>T (p.Met531Ile)
c.1701G>T (p.Met567Ile)
 gnomAD v4
8g.93923599T>ACA371697908PDP1c.1540T>A (p.Tyr514Asn)
c.1615T>A (p.Tyr539Asn)
c.1594T>A (p.Tyr532Asn)
c.1702T>A (p.Tyr568Asn)
8g.93923599T>CCA371697910PDP1c.1540T>C (p.Tyr514His)
c.1615T>C (p.Tyr539His)
c.1594T>C (p.Tyr532His)
c.1702T>C (p.Tyr568His)
8g.93923599T>GCA371697912PDP1c.1540T>G (p.Tyr514Asp)
c.1615T>G (p.Tyr539Asp)
c.1594T>G (p.Tyr532Asp)
c.1702T>G (p.Tyr568Asp)
8g.93923600A>CCA371697916PDP1c.1541A>C (p.Tyr514Ser)
c.1616A>C (p.Tyr539Ser)
c.1595A>C (p.Tyr532Ser)
c.1703A>C (p.Tyr568Ser)
8g.93923600A>GCA371697917PDP1c.1541A>G (p.Tyr514Cys)
c.1616A>G (p.Tyr539Cys)
c.1595A>G (p.Tyr532Cys)
c.1703A>G (p.Tyr568Cys)
 gnomAD v4
8g.93923600A>TCA371697921PDP1c.1541A>T (p.Tyr514Phe)
c.1616A>T (p.Tyr539Phe)
c.1595A>T (p.Tyr532Phe)
c.1703A>T (p.Tyr568Phe)
 gnomAD v4
8g.93923601_93923602delCA2687927880PDP1c.1542_1543del (p.Tyr514Ter)
c.1617_1618del (p.Tyr539Ter)
c.1596_1597del (p.Tyr532Ter)
c.1704_1705del (p.Tyr568Ter)
 gnomAD v4
8g.93923601C>ACA371697924PDP1c.1542C>A (p.Tyr514Ter)
c.1617C>A (p.Tyr539Ter)
c.1596C>A (p.Tyr532Ter)
c.1704C>A (p.Tyr568Ter)
 dbSNP
8g.93923601C=CA1803281014PDP1c.1542C= (p.Tyr514=)
c.1617C= (p.Tyr539=)
c.1596C= (p.Tyr532=)
c.1704C= (p.Tyr568=)
8g.93923601C>GCA371697926PDP1c.1542C>G (p.Tyr514Ter)
c.1617C>G (p.Tyr539Ter)
c.1596C>G (p.Tyr532Ter)
c.1704C>G (p.Tyr568Ter)
8g.93923601C>TCA462118346PDP1c.1542C>T (p.Tyr514=)
c.1617C>T (p.Tyr539=)
c.1596C>T (p.Tyr532=)
c.1704C>T (p.Tyr568=)
 gnomAD v4
8g.93923602A>CCA462118347PDP1c.1543A>C (p.Arg515=)
c.1618A>C (p.Arg540=)
c.1597A>C (p.Arg533=)
c.1705A>C (p.Arg569=)
8g.93923602A>GCA371697930PDP1c.1543A>G (p.Arg515Gly)
c.1618A>G (p.Arg540Gly)
c.1597A>G (p.Arg533Gly)
c.1705A>G (p.Arg569Gly)
 gnomAD v4
8g.93923602A>TCA371697932PDP1c.1543A>T (p.Arg515Ter)
c.1618A>T (p.Arg540Ter)
c.1597A>T (p.Arg533Ter)
c.1705A>T (p.Arg569Ter)
8g.93923603G>ACA371697935PDP1c.1544G>A (p.Arg515Lys)
c.1619G>A (p.Arg540Lys)
c.1598G>A (p.Arg533Lys)
c.1706G>A (p.Arg569Lys)
 gnomAD v4
8g.93923603G>CCA371697940PDP1c.1544G>C (p.Arg515Thr)
c.1619G>C (p.Arg540Thr)
c.1598G>C (p.Arg533Thr)
c.1706G>C (p.Arg569Thr)
8g.93923603G>TCA371697937PDP1c.1544G>T (p.Arg515Ile)
c.1619G>T (p.Arg540Ile)
c.1598G>T (p.Arg533Ile)
c.1706G>T (p.Arg569Ile)
8g.93923604A=CA1803281015PDP1c.1545A= (p.Arg515=)
c.1620A= (p.Arg540=)
c.1599A= (p.Arg533=)
c.1707A= (p.Arg569=)
8g.93923604A>CCA371697942PDP1c.1545A>C (p.Arg515Ser)
c.1620A>C (p.Arg540Ser)
c.1599A>C (p.Arg533Ser)
c.1707A>C (p.Arg569Ser)
8g.93923604A>GCA4808846PDP1c.1545A>G (p.Arg515=)
c.1620A>G (p.Arg540=)
c.1599A>G (p.Arg533=)
c.1707A>G (p.Arg569=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923604A>TCA371697944PDP1c.1545A>T (p.Arg515Ser)
c.1620A>T (p.Arg540Ser)
c.1599A>T (p.Arg533Ser)
c.1707A>T (p.Arg569Ser)
8g.93923605G>ACA371697948PDP1c.1546G>A (p.Asp516Asn)
c.1621G>A (p.Asp541Asn)
c.1600G>A (p.Asp534Asn)
c.1708G>A (p.Asp570Asn)
8g.93923605G>CCA371697950PDP1c.1546G>C (p.Asp516His)
c.1621G>C (p.Asp541His)
c.1600G>C (p.Asp534His)
c.1708G>C (p.Asp570His)
8g.93923605G>TCA371697953PDP1c.1546G>T (p.Asp516Tyr)
c.1621G>T (p.Asp541Tyr)
c.1600G>T (p.Asp534Tyr)
c.1708G>T (p.Asp570Tyr)
8g.93923606A>CCA371697955PDP1c.1547A>C (p.Asp516Ala)
c.1622A>C (p.Asp541Ala)
c.1601A>C (p.Asp534Ala)
c.1709A>C (p.Asp570Ala)
8g.93923606A>GCA371697956PDP1c.1547A>G (p.Asp516Gly)
c.1622A>G (p.Asp541Gly)
c.1601A>G (p.Asp534Gly)
c.1709A>G (p.Asp570Gly)
8g.93923606A>TCA371697960PDP1c.1547A>T (p.Asp516Val)
c.1622A>T (p.Asp541Val)
c.1601A>T (p.Asp534Val)
c.1709A>T (p.Asp570Val)
8g.93923607T>ACA371697963PDP1c.1548T>A (p.Asp516Glu)
c.1623T>A (p.Asp541Glu)
c.1602T>A (p.Asp534Glu)
c.1710T>A (p.Asp570Glu)
8g.93923607T>CCA462118351PDP1c.1548T>C (p.Asp516=)
c.1623T>C (p.Asp541=)
c.1602T>C (p.Asp534=)
c.1710T>C (p.Asp570=)
8g.93923607T>GCA371697965PDP1c.1548T>G (p.Asp516Glu)
c.1623T>G (p.Asp541Glu)
c.1602T>G (p.Asp534Glu)
c.1710T>G (p.Asp570Glu)
8g.93923608G>ACA371697971PDP1c.1549G>A (p.Asp517Asn)
c.1624G>A (p.Asp542Asn)
c.1603G>A (p.Asp535Asn)
c.1711G>A (p.Asp571Asn)
8g.93923608G>CCA371697970PDP1c.1549G>C (p.Asp517His)
c.1624G>C (p.Asp542His)
c.1603G>C (p.Asp535His)
c.1711G>C (p.Asp571His)
8g.93923608G>TCA371697968PDP1c.1549G>T (p.Asp517Tyr)
c.1624G>T (p.Asp542Tyr)
c.1603G>T (p.Asp535Tyr)
c.1711G>T (p.Asp571Tyr)
8g.93923609A>CCA371697972PDP1c.1550A>C (p.Asp517Ala)
c.1625A>C (p.Asp542Ala)
c.1604A>C (p.Asp535Ala)
c.1712A>C (p.Asp571Ala)
8g.93923609A>GCA371697973PDP1c.1550A>G (p.Asp517Gly)
c.1625A>G (p.Asp542Gly)
c.1604A>G (p.Asp535Gly)
c.1712A>G (p.Asp571Gly)
8g.93923609A>TCA371697974PDP1c.1550A>T (p.Asp517Val)
c.1625A>T (p.Asp542Val)
c.1604A>T (p.Asp535Val)
c.1712A>T (p.Asp571Val)
8g.93923610C>ACA371697975PDP1c.1551C>A (p.Asp517Glu)
c.1626C>A (p.Asp542Glu)
c.1605C>A (p.Asp535Glu)
c.1713C>A (p.Asp571Glu)
8g.93923610C=CA1803281016PDP1c.1551C= (p.Asp517=)
c.1626C= (p.Asp542=)
c.1605C= (p.Asp535=)
c.1713C= (p.Asp571=)
8g.93923610C>GCA371697977PDP1c.1551C>G (p.Asp517Glu)
c.1626C>G (p.Asp542Glu)
c.1605C>G (p.Asp535Glu)
c.1713C>G (p.Asp571Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.93923610C>TCA462118355PDP1c.1551C>T (p.Asp517=)
c.1626C>T (p.Asp542=)
c.1605C>T (p.Asp535=)
c.1713C>T (p.Asp571=)
 gnomAD v4
8g.93923611A=CA1803281017PDP1c.1552A= (p.Ile518=)
c.1627A= (p.Ile543=)
c.1606A= (p.Ile536=)
c.1714A= (p.Ile572=)
8g.93923611A>CCA371697978PDP1c.1552A>C (p.Ile518Leu)
c.1627A>C (p.Ile543Leu)
c.1606A>C (p.Ile536Leu)
c.1714A>C (p.Ile572Leu)
 dbSNP
8g.93923611A>GCA181376433PDP1c.1552A>G (p.Ile518Val)
c.1627A>G (p.Ile543Val)
c.1606A>G (p.Ile536Val)
c.1714A>G (p.Ile572Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923611A>TCA371697979PDP1c.1552A>T (p.Ile518Phe)
c.1627A>T (p.Ile543Phe)
c.1606A>T (p.Ile536Phe)
c.1714A>T (p.Ile572Phe)
8g.93923612T>ACA371697982PDP1c.1553T>A (p.Ile518Asn)
c.1628T>A (p.Ile543Asn)
c.1607T>A (p.Ile536Asn)
c.1715T>A (p.Ile572Asn)
8g.93923612T>CCA181376439PDP1c.1553T>C (p.Ile518Thr)
c.1628T>C (p.Ile543Thr)
c.1607T>C (p.Ile536Thr)
c.1715T>C (p.Ile572Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.93923612T>GCA371697986PDP1c.1553T>G (p.Ile518Ser)
c.1628T>G (p.Ile543Ser)
c.1607T>G (p.Ile536Ser)
c.1715T>G (p.Ile572Ser)
 COSMIC
8g.93923612T=CA1803281018PDP1c.1553T= (p.Ile518=)
c.1628T= (p.Ile543=)
c.1607T= (p.Ile536=)
c.1715T= (p.Ile572=)
8g.93923613T>ACA462118357PDP1c.1554T>A (p.Ile518=)
c.1629T>A (p.Ile543=)
c.1608T>A (p.Ile536=)
c.1716T>A (p.Ile572=)
8g.93923613T>CCA462118358PDP1c.1554T>C (p.Ile518=)
c.1629T>C (p.Ile543=)
c.1608T>C (p.Ile536=)
c.1716T>C (p.Ile572=)
8g.93923613T>GCA371697990PDP1c.1554T>G (p.Ile518Met)
c.1629T>G (p.Ile543Met)
c.1608T>G (p.Ile536Met)
c.1716T>G (p.Ile572Met)
8g.93923614A>CCA371697994PDP1c.1555A>C (p.Thr519Pro)
c.1630A>C (p.Thr544Pro)
c.1609A>C (p.Thr537Pro)
c.1717A>C (p.Thr573Pro)
8g.93923614A>GCA371697997PDP1c.1555A>G (p.Thr519Ala)
c.1630A>G (p.Thr544Ala)
c.1609A>G (p.Thr537Ala)
c.1717A>G (p.Thr573Ala)
 gnomAD v4
8g.93923614A>TCA371697995PDP1c.1555A>T (p.Thr519Ser)
c.1630A>T (p.Thr544Ser)
c.1609A>T (p.Thr537Ser)
c.1717A>T (p.Thr573Ser)
8g.93923615C>ACA371697999PDP1c.1556C>A (p.Thr519Lys)
c.1631C>A (p.Thr544Lys)
c.1610C>A (p.Thr537Lys)
c.1718C>A (p.Thr573Lys)
8g.93923615C>GCA371698004PDP1c.1556C>G (p.Thr519Arg)
c.1631C>G (p.Thr544Arg)
c.1610C>G (p.Thr537Arg)
c.1718C>G (p.Thr573Arg)
8g.93923615C>TCA371698001PDP1c.1556C>T (p.Thr519Ile)
c.1631C>T (p.Thr544Ile)
c.1610C>T (p.Thr537Ile)
c.1718C>T (p.Thr573Ile)
8g.93923616A>CCA462118362PDP1c.1557A>C (p.Thr519=)
c.1632A>C (p.Thr544=)
c.1611A>C (p.Thr537=)
c.1719A>C (p.Thr573=)
8g.93923616A>GCA462118363PDP1c.1557A>G (p.Thr519=)
c.1632A>G (p.Thr544=)
c.1611A>G (p.Thr537=)
c.1719A>G (p.Thr573=)
8g.93923616A>TCA462118364PDP1c.1557A>T (p.Thr519=)
c.1632A>T (p.Thr544=)
c.1611A>T (p.Thr537=)
c.1719A>T (p.Thr573=)
8g.93923617A=CA1803281019PDP1c.1558A= (p.Ile520=)
c.1633A= (p.Ile545=)
c.1612A= (p.Ile538=)
c.1720A= (p.Ile574=)
8g.93923617A>CCA371698007PDP1c.1558A>C (p.Ile520Leu)
c.1633A>C (p.Ile545Leu)
c.1612A>C (p.Ile538Leu)
c.1720A>C (p.Ile574Leu)
8g.93923617A>GCA4808847PDP1c.1558A>G (p.Ile520Val)
c.1633A>G (p.Ile545Val)
c.1612A>G (p.Ile538Val)
c.1720A>G (p.Ile574Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923617A>TCA371698011PDP1c.1558A>T (p.Ile520Phe)
c.1633A>T (p.Ile545Phe)
c.1612A>T (p.Ile538Phe)
c.1720A>T (p.Ile574Phe)
8g.93923618T>ACA371698012PDP1c.1559T>A (p.Ile520Asn)
c.1634T>A (p.Ile545Asn)
c.1613T>A (p.Ile538Asn)
c.1721T>A (p.Ile574Asn)
8g.93923618T>CCA371698015PDP1c.1559T>C (p.Ile520Thr)
c.1634T>C (p.Ile545Thr)
c.1613T>C (p.Ile538Thr)
c.1721T>C (p.Ile574Thr)
8g.93923618T>GCA371698018PDP1c.1559T>G (p.Ile520Ser)
c.1634T>G (p.Ile545Ser)
c.1613T>G (p.Ile538Ser)
c.1721T>G (p.Ile574Ser)
8g.93923619C>ACA462118367PDP1c.1560C>A (p.Ile520=)
c.1635C>A (p.Ile545=)
c.1614C>A (p.Ile538=)
c.1722C>A (p.Ile574=)
8g.93923619C>GCA371698020PDP1c.1560C>G (p.Ile520Met)
c.1635C>G (p.Ile545Met)
c.1614C>G (p.Ile538Met)
c.1722C>G (p.Ile574Met)
8g.93923619C>TCA462118368PDP1c.1560C>T (p.Ile520=)
c.1635C>T (p.Ile545=)
c.1614C>T (p.Ile538=)
c.1722C>T (p.Ile574=)
8g.93923620A>CCA371698022PDP1c.1561A>C (p.Ile521Leu)
c.1636A>C (p.Ile546Leu)
c.1615A>C (p.Ile539Leu)
c.1723A>C (p.Ile575Leu)
8g.93923620A>GCA371698025PDP1c.1561A>G (p.Ile521Val)
c.1636A>G (p.Ile546Val)
c.1615A>G (p.Ile539Val)
c.1723A>G (p.Ile575Val)
 gnomAD v4
8g.93923620A>TCA371698028PDP1c.1561A>T (p.Ile521Phe)
c.1636A>T (p.Ile546Phe)
c.1615A>T (p.Ile539Phe)
c.1723A>T (p.Ile575Phe)
 gnomAD v4
8g.93923621T>ACA371698032PDP1c.1562T>A (p.Ile521Asn)
c.1637T>A (p.Ile546Asn)
c.1616T>A (p.Ile539Asn)
c.1724T>A (p.Ile575Asn)
8g.93923621T>CCA371698034PDP1c.1562T>C (p.Ile521Thr)
c.1637T>C (p.Ile546Thr)
c.1616T>C (p.Ile539Thr)
c.1724T>C (p.Ile575Thr)
8g.93923621T>GCA371698036PDP1c.1562T>G (p.Ile521Ser)
c.1637T>G (p.Ile546Ser)
c.1616T>G (p.Ile539Ser)
c.1724T>G (p.Ile575Ser)
8g.93923622T>ACA462118370PDP1c.1563T>A (p.Ile521=)
c.1638T>A (p.Ile546=)
c.1617T>A (p.Ile539=)
c.1725T>A (p.Ile575=)
8g.93923622T>CCA462118371PDP1c.1563T>C (p.Ile521=)
c.1638T>C (p.Ile546=)
c.1617T>C (p.Ile539=)
c.1725T>C (p.Ile575=)
8g.93923622T>GCA371698038PDP1c.1563T>G (p.Ile521Met)
c.1638T>G (p.Ile546Met)
c.1617T>G (p.Ile539Met)
c.1725T>G (p.Ile575Met)
8g.93923623G>ACA371698041PDP1c.1564G>A (p.Val522Ile)
c.1639G>A (p.Val547Ile)
c.1618G>A (p.Val540Ile)
c.1726G>A (p.Val576Ile)
8g.93923623G>CCA371698044PDP1c.1564G>C (p.Val522Leu)
c.1639G>C (p.Val547Leu)
c.1618G>C (p.Val540Leu)
c.1726G>C (p.Val576Leu)
8g.93923623G>TCA371698047PDP1c.1564G>T (p.Val522Leu)
c.1639G>T (p.Val547Leu)
c.1618G>T (p.Val540Leu)
c.1726G>T (p.Val576Leu)
8g.93923624T>ACA371698050PDP1c.1565T>A (p.Val522Glu)
c.1640T>A (p.Val547Glu)
c.1619T>A (p.Val540Glu)
c.1727T>A (p.Val576Glu)
8g.93923624T>CCA371698052PDP1c.1565T>C (p.Val522Ala)
c.1640T>C (p.Val547Ala)
c.1619T>C (p.Val540Ala)
c.1727T>C (p.Val576Ala)
8g.93923624T>GCA371698055PDP1c.1565T>G (p.Val522Gly)
c.1640T>G (p.Val547Gly)
c.1619T>G (p.Val540Gly)
c.1727T>G (p.Val576Gly)
8g.93923625A>CCA462118372PDP1c.1566A>C (p.Val522=)
c.1641A>C (p.Val547=)
c.1620A>C (p.Val540=)
c.1728A>C (p.Val576=)
8g.93923625A>GCA462118373PDP1c.1566A>G (p.Val522=)
c.1641A>G (p.Val547=)
c.1620A>G (p.Val540=)
c.1728A>G (p.Val576=)
8g.93923625A>TCA462118374PDP1c.1566A>T (p.Val522=)
c.1641A>T (p.Val547=)
c.1620A>T (p.Val540=)
c.1728A>T (p.Val576=)
8g.93923626G>ACA371698058PDP1c.1567G>A (p.Val523Ile)
c.1642G>A (p.Val548Ile)
c.1621G>A (p.Val541Ile)
c.1729G>A (p.Val577Ile)
8g.93923626G>CCA4808848PDP1c.1567G>C (p.Val523Leu)
c.1642G>C (p.Val548Leu)
c.1621G>C (p.Val541Leu)
c.1729G>C (p.Val577Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923626G=CA1803281020PDP1c.1567G= (p.Val523=)
c.1642G= (p.Val548=)
c.1621G= (p.Val541=)
c.1729G= (p.Val577=)
8g.93923626G>TCA371698061PDP1c.1567G>T (p.Val523Phe)
c.1642G>T (p.Val548Phe)
c.1621G>T (p.Val541Phe)
c.1729G>T (p.Val577Phe)
8g.93923627T>ACA371698063PDP1c.1568T>A (p.Val523Asp)
c.1643T>A (p.Val548Asp)
c.1622T>A (p.Val541Asp)
c.1730T>A (p.Val577Asp)
8g.93923627T>CCA371698065PDP1c.1568T>C (p.Val523Ala)
c.1643T>C (p.Val548Ala)
c.1622T>C (p.Val541Ala)
c.1730T>C (p.Val577Ala)
8g.93923627T>GCA371698068PDP1c.1568T>G (p.Val523Gly)
c.1643T>G (p.Val548Gly)
c.1622T>G (p.Val541Gly)
c.1730T>G (p.Val577Gly)
8g.93923628T>ACA462118377PDP1c.1569T>A (p.Val523=)
c.1644T>A (p.Val548=)
c.1623T>A (p.Val541=)
c.1731T>A (p.Val577=)
8g.93923628T>CCA462118378PDP1c.1569T>C (p.Val523=)
c.1644T>C (p.Val548=)
c.1623T>C (p.Val541=)
c.1731T>C (p.Val577=)
8g.93923628T>GCA462118379PDP1c.1569T>G (p.Val523=)
c.1644T>G (p.Val548=)
c.1623T>G (p.Val541=)
c.1731T>G (p.Val577=)
 dbSNP
8g.93923628T=CA1803281021PDP1c.1569T= (p.Val523=)
c.1644T= (p.Val548=)
c.1623T= (p.Val541=)
c.1731T= (p.Val577=)
8g.93923629C>ACA371698073PDP1c.1570C>A (p.Gln524Lys)
c.1645C>A (p.Gln549Lys)
c.1624C>A (p.Gln542Lys)
c.1732C>A (p.Gln578Lys)
 gnomAD v4
8g.93923629C=CA1803281022PDP1c.1570C= (p.Gln524=)
c.1645C= (p.Gln549=)
c.1624C= (p.Gln542=)
c.1732C= (p.Gln578=)
8g.93923629C>GCA4808849PDP1c.1570C>G (p.Gln524Glu)
c.1645C>G (p.Gln549Glu)
c.1624C>G (p.Gln542Glu)
c.1732C>G (p.Gln578Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923629C>TCA371698071PDP1c.1570C>T (p.Gln524Ter)
c.1645C>T (p.Gln549Ter)
c.1624C>T (p.Gln542Ter)
c.1732C>T (p.Gln578Ter)
 gnomAD v4
8g.93923630A>CCA371698076PDP1c.1571A>C (p.Gln524Pro)
c.1646A>C (p.Gln549Pro)
c.1625A>C (p.Gln542Pro)
c.1733A>C (p.Gln578Pro)
8g.93923630A>GCA371698077PDP1c.1571A>G (p.Gln524Arg)
c.1646A>G (p.Gln549Arg)
c.1625A>G (p.Gln542Arg)
c.1733A>G (p.Gln578Arg)
8g.93923630A>TCA371698081PDP1c.1571A>T (p.Gln524Leu)
c.1646A>T (p.Gln549Leu)
c.1625A>T (p.Gln542Leu)
c.1733A>T (p.Gln578Leu)
8g.93923631G>ACA462118381PDP1c.1572G>A (p.Gln524=)
c.1647G>A (p.Gln549=)
c.1626G>A (p.Gln542=)
c.1734G>A (p.Gln578=)
8g.93923631G>CCA371698084PDP1c.1572G>C (p.Gln524His)
c.1647G>C (p.Gln549His)
c.1626G>C (p.Gln542His)
c.1734G>C (p.Gln578His)
8g.93923631G>TCA371698086PDP1c.1572G>T (p.Gln524His)
c.1647G>T (p.Gln549His)
c.1626G>T (p.Gln542His)
c.1734G>T (p.Gln578His)
8g.93923632T>ACA371698089PDP1c.1573T>A (p.Phe525Ile)
c.1648T>A (p.Phe550Ile)
c.1627T>A (p.Phe543Ile)
c.1735T>A (p.Phe579Ile)
8g.93923632T>CCA371698091PDP1c.1573T>C (p.Phe525Leu)
c.1648T>C (p.Phe550Leu)
c.1627T>C (p.Phe543Leu)
c.1735T>C (p.Phe579Leu)
8g.93923632T>GCA371698093PDP1c.1573T>G (p.Phe525Val)
c.1648T>G (p.Phe550Val)
c.1627T>G (p.Phe543Val)
c.1735T>G (p.Phe579Val)
8g.93923633T>ACA371698097PDP1c.1574T>A (p.Phe525Tyr)
c.1649T>A (p.Phe550Tyr)
c.1628T>A (p.Phe543Tyr)
c.1736T>A (p.Phe579Tyr)
8g.93923633T>CCA371698103PDP1c.1574T>C (p.Phe525Ser)
c.1649T>C (p.Phe550Ser)
c.1628T>C (p.Phe543Ser)
c.1736T>C (p.Phe579Ser)
8g.93923633T>GCA371698105PDP1c.1574T>G (p.Phe525Cys)
c.1649T>G (p.Phe550Cys)
c.1628T>G (p.Phe543Cys)
c.1736T>G (p.Phe579Cys)
8g.93923634C>ACA371698107PDP1c.1575C>A (p.Phe525Leu)
c.1650C>A (p.Phe550Leu)
c.1629C>A (p.Phe543Leu)
c.1737C>A (p.Phe579Leu)
 gnomAD v4
8g.93923634C>GCA371698110PDP1c.1575C>G (p.Phe525Leu)
c.1650C>G (p.Phe550Leu)
c.1629C>G (p.Phe543Leu)
c.1737C>G (p.Phe579Leu)
8g.93923634C>TCA462118383PDP1c.1575C>T (p.Phe525=)
c.1650C>T (p.Phe550=)
c.1629C>T (p.Phe543=)
c.1737C>T (p.Phe579=)
8g.93923635A>CCA371698116PDP1c.1576A>C (p.Asn526His)
c.1651A>C (p.Asn551His)
c.1630A>C (p.Asn544His)
c.1738A>C (p.Asn580His)
 gnomAD v4
8g.93923635A>GCA371698113PDP1c.1576A>G (p.Asn526Asp)
c.1651A>G (p.Asn551Asp)
c.1630A>G (p.Asn544Asp)
c.1738A>G (p.Asn580Asp)
8g.93923635A>TCA371698115PDP1c.1576A>T (p.Asn526Tyr)
c.1651A>T (p.Asn551Tyr)
c.1630A>T (p.Asn544Tyr)
c.1738A>T (p.Asn580Tyr)
8g.93923636A=CA1803281023PDP1c.1577A= (p.Asn526=)
c.1652A= (p.Asn551=)
c.1631A= (p.Asn544=)
c.1739A= (p.Asn580=)
8g.93923636A>CCA371698119PDP1c.1577A>C (p.Asn526Thr)
c.1652A>C (p.Asn551Thr)
c.1631A>C (p.Asn544Thr)
c.1739A>C (p.Asn580Thr)
8g.93923636A>GCA4808850PDP1c.1577A>G (p.Asn526Ser)
c.1652A>G (p.Asn551Ser)
c.1631A>G (p.Asn544Ser)
c.1739A>G (p.Asn580Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923636A>TCA371698123PDP1c.1577A>T (p.Asn526Ile)
c.1652A>T (p.Asn551Ile)
c.1631A>T (p.Asn544Ile)
c.1739A>T (p.Asn580Ile)
8g.93923637T>ACA371698126PDP1c.1578T>A (p.Asn526Lys)
c.1653T>A (p.Asn551Lys)
c.1632T>A (p.Asn544Lys)
c.1740T>A (p.Asn580Lys)
8g.93923637T>CCA462118386PDP1c.1578T>C (p.Asn526=)
c.1653T>C (p.Asn551=)
c.1632T>C (p.Asn544=)
c.1740T>C (p.Asn580=)
8g.93923637T>GCA371698129PDP1c.1578T>G (p.Asn526Lys)
c.1653T>G (p.Asn551Lys)
c.1632T>G (p.Asn544Lys)
c.1740T>G (p.Asn580Lys)
 gnomAD v4
8g.93923638T>ACA371698131PDP1c.1579T>A (p.Ser527Thr)
c.1654T>A (p.Ser552Thr)
c.1633T>A (p.Ser545Thr)
c.1741T>A (p.Ser581Thr)
8g.93923638T>CCA4808851PDP1c.1579T>C (p.Ser527Pro)
c.1654T>C (p.Ser552Pro)
c.1633T>C (p.Ser545Pro)
c.1741T>C (p.Ser581Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923638T>GCA371698134PDP1c.1579T>G (p.Ser527Ala)
c.1654T>G (p.Ser552Ala)
c.1633T>G (p.Ser545Ala)
c.1741T>G (p.Ser581Ala)
8g.93923638T=CA1803281024PDP1c.1579T= (p.Ser527=)
c.1654T= (p.Ser552=)
c.1633T= (p.Ser545=)
c.1741T= (p.Ser581=)
8g.93923639C>ACA371698136PDP1c.1580C>A (p.Ser527Tyr)
c.1655C>A (p.Ser552Tyr)
c.1634C>A (p.Ser545Tyr)
c.1742C>A (p.Ser581Tyr)
 COSMIC COSMIC
8g.93923639C>GCA371698137PDP1c.1580C>G (p.Ser527Cys)
c.1655C>G (p.Ser552Cys)
c.1634C>G (p.Ser545Cys)
c.1742C>G (p.Ser581Cys)
8g.93923639C>TCA371698140PDP1c.1580C>T (p.Ser527Phe)
c.1655C>T (p.Ser552Phe)
c.1634C>T (p.Ser545Phe)
c.1742C>T (p.Ser581Phe)
8g.93923640T>ACA462118392PDP1c.1581T>A (p.Ser527=)
c.1656T>A (p.Ser552=)
c.1635T>A (p.Ser545=)
c.1743T>A (p.Ser581=)
8g.93923640T>CCA462118393PDP1c.1581T>C (p.Ser527=)
c.1656T>C (p.Ser552=)
c.1635T>C (p.Ser545=)
c.1743T>C (p.Ser581=)
8g.93923640T>GCA462118394PDP1c.1581T>G (p.Ser527=)
c.1656T>G (p.Ser552=)
c.1635T>G (p.Ser545=)
c.1743T>G (p.Ser581=)
8g.93923641C>ACA371698142PDP1c.1582C>A (p.His528Asn)
c.1657C>A (p.His553Asn)
c.1636C>A (p.His546Asn)
c.1744C>A (p.His582Asn)
8g.93923641C=CA1803281026PDP1c.1582C= (p.His528=)
c.1657C= (p.His553=)
c.1636C= (p.His546=)
c.1744C= (p.His582=)
8g.93923641C>GCA371698147PDP1c.1582C>G (p.His528Asp)
c.1657C>G (p.His553Asp)
c.1636C>G (p.His546Asp)
c.1744C>G (p.His582Asp)
 dbSNP
8g.93923641C>TCA371698144PDP1c.1582C>T (p.His528Tyr)
c.1657C>T (p.His553Tyr)
c.1636C>T (p.His546Tyr)
c.1744C>T (p.His582Tyr)
 gnomAD v4
8g.93923641_93923643delinsCATCA1803281025PDP1c.1582_1584delinsCAT (p.His528=)
c.1657_1659delinsCAT (p.His553=)
c.1636_1638delinsCAT (p.His546=)
c.1744_1746delinsCAT (p.His582=)
8g.93923642A>CCA371698149PDP1c.1583A>C (p.His528Pro)
c.1658A>C (p.His553Pro)
c.1637A>C (p.His546Pro)
c.1745A>C (p.His582Pro)
8g.93923642A>GCA371698155PDP1c.1583A>G (p.His528Arg)
c.1658A>G (p.His553Arg)
c.1637A>G (p.His546Arg)
c.1745A>G (p.His582Arg)
8g.93923642A>TCA371698152PDP1c.1583A>T (p.His528Leu)
c.1658A>T (p.His553Leu)
c.1637A>T (p.His546Leu)
c.1745A>T (p.His582Leu)
8g.93923642_93923643delCA583844367PDP1c.1583_1584del (p.His528ArgfsTer25)
c.1658_1659del (p.His553ArgfsTer25)
c.1637_1638del (p.His546ArgfsTer25)
c.1745_1746del (p.His582ArgfsTer25)
 dbSNP gnomAD v2 gnomAD v4
8g.93923642_93923645delinsATGTCA1803281027PDP1c.1583_1586delinsATGT (p.His528=)
c.1658_1661delinsATGT (p.His553=)
c.1637_1640delinsATGT (p.His546=)
c.1745_1748delinsATGT (p.His582=)
8g.93923643T>ACA371698157PDP1c.1584T>A (p.His528Gln)
c.1659T>A (p.His553Gln)
c.1638T>A (p.His546Gln)
c.1746T>A (p.His582Gln)
8g.93923643T>CCA462118397PDP1c.1584T>C (p.His528=)
c.1659T>C (p.His553=)
c.1638T>C (p.His546=)
c.1746T>C (p.His582=)
8g.93923643T>GCA371698159PDP1c.1584T>G (p.His528Gln)
c.1659T>G (p.His553Gln)
c.1638T>G (p.His546Gln)
c.1746T>G (p.His582Gln)
8g.93923646_93923648delCA1803281028PDP1c.1587_1589del (p.Val530del)
c.1662_1664del (p.Val555del)
c.1641_1643del (p.Val548del)
c.1749_1751del (p.Val584del)
 dbSNP
8g.93923644G>ACA371698162PDP1c.1585G>A (p.Val529Ile)
c.1660G>A (p.Val554Ile)
c.1639G>A (p.Val547Ile)
c.1747G>A (p.Val583Ile)
 dbSNP gnomAD v4
8g.93923644G>CCA371698165PDP1c.1585G>C (p.Val529Leu)
c.1660G>C (p.Val554Leu)
c.1639G>C (p.Val547Leu)
c.1747G>C (p.Val583Leu)
8g.93923644G=CA1803281029PDP1c.1585G= (p.Val529=)
c.1660G= (p.Val554=)
c.1639G= (p.Val547=)
c.1747G= (p.Val583=)
8g.93923644G>TCA4808852PDP1c.1585G>T (p.Val529Phe)
c.1660G>T (p.Val554Phe)
c.1639G>T (p.Val547Phe)
c.1747G>T (p.Val583Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923645T>ACA371698169PDP1c.1586T>A (p.Val529Asp)
c.1661T>A (p.Val554Asp)
c.1640T>A (p.Val547Asp)
c.1748T>A (p.Val583Asp)
8g.93923645T>CCA371698171PDP1c.1586T>C (p.Val529Ala)
c.1661T>C (p.Val554Ala)
c.1640T>C (p.Val547Ala)
c.1748T>C (p.Val583Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.93923645T>GCA371698175PDP1c.1586T>G (p.Val529Gly)
c.1661T>G (p.Val554Gly)
c.1640T>G (p.Val547Gly)
c.1748T>G (p.Val583Gly)
8g.93923645T=CA1803281030PDP1c.1586T= (p.Val529=)
c.1661T= (p.Val554=)
c.1640T= (p.Val547=)
c.1748T= (p.Val583=)
8g.93923646T>ACA462118399PDP1c.1587T>A (p.Val529=)
c.1662T>A (p.Val554=)
c.1641T>A (p.Val547=)
c.1749T>A (p.Val583=)
8g.93923646T>CCA462118400PDP1c.1587T>C (p.Val529=)
c.1662T>C (p.Val554=)
c.1641T>C (p.Val547=)
c.1749T>C (p.Val583=)
8g.93923646T>GCA462118401PDP1c.1587T>G (p.Val529=)
c.1662T>G (p.Val554=)
c.1641T>G (p.Val547=)
c.1749T>G (p.Val583=)
8g.93923647G>ACA4808853PDP1c.1588G>A (p.Val530Ile)
c.1663G>A (p.Val555Ile)
c.1642G>A (p.Val548Ile)
c.1750G>A (p.Val584Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923647G>CCA371698180PDP1c.1588G>C (p.Val530Leu)
c.1663G>C (p.Val555Leu)
c.1642G>C (p.Val548Leu)
c.1750G>C (p.Val584Leu)
8g.93923647G=CA1803281031PDP1c.1588G= (p.Val530=)
c.1663G= (p.Val555=)
c.1642G= (p.Val548=)
c.1750G= (p.Val584=)
8g.93923647G>TCA371698182PDP1c.1588G>T (p.Val530Leu)
c.1663G>T (p.Val555Leu)
c.1642G>T (p.Val548Leu)
c.1750G>T (p.Val584Leu)
8g.93923648T>ACA371698185PDP1c.1589T>A (p.Val530Glu)
c.1664T>A (p.Val555Glu)
c.1643T>A (p.Val548Glu)
c.1751T>A (p.Val584Glu)
8g.93923648T>CCA371698186PDP1c.1589T>C (p.Val530Ala)
c.1664T>C (p.Val555Ala)
c.1643T>C (p.Val548Ala)
c.1751T>C (p.Val584Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923648T>GCA371698189PDP1c.1589T>G (p.Val530Gly)
c.1664T>G (p.Val555Gly)
c.1643T>G (p.Val548Gly)
c.1751T>G (p.Val584Gly)
8g.93923648T=CA1803281032PDP1c.1589T= (p.Val530=)
c.1664T= (p.Val555=)
c.1643T= (p.Val548=)
c.1751T= (p.Val584=)
8g.93923649A=CA1803281033PDP1c.1590A= (p.Val530=)
c.1665A= (p.Val555=)
c.1644A= (p.Val548=)
c.1752A= (p.Val584=)
8g.93923649A>CCA462118402PDP1c.1590A>C (p.Val530=)
c.1665A>C (p.Val555=)
c.1644A>C (p.Val548=)
c.1752A>C (p.Val584=)
8g.93923649A>GCA462118403PDP1c.1590A>G (p.Val530=)
c.1665A>G (p.Val555=)
c.1644A>G (p.Val548=)
c.1752A>G (p.Val584=)
8g.93923649A>TCA462118404PDP1c.1590A>T (p.Val530=)
c.1665A>T (p.Val555=)
c.1644A>T (p.Val548=)
c.1752A>T (p.Val584=)
8g.93923650G>ACA371698192PDP1c.1591G>A (p.Gly531Arg)
c.1666G>A (p.Gly556Arg)
c.1645G>A (p.Gly549Arg)
c.1753G>A (p.Gly585Arg)
8g.93923650G>CCA371698195PDP1c.1591G>C (p.Gly531Arg)
c.1666G>C (p.Gly556Arg)
c.1645G>C (p.Gly549Arg)
c.1753G>C (p.Gly585Arg)
8g.93923650G>TCA371698194PDP1c.1591G>T (p.Gly531Trp)
c.1666G>T (p.Gly556Trp)
c.1645G>T (p.Gly549Trp)
c.1753G>T (p.Gly585Trp)
8g.93923653dupCA4808854PDP1c.1594dup (p.Ala532GlyfsTer22)
c.1669dup (p.Ala557GlyfsTer22)
c.1648dup (p.Ala550GlyfsTer22)
c.1756dup (p.Ala586GlyfsTer22)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923651G>ACA181376515PDP1c.1592G>A (p.Gly531Glu)
c.1667G>A (p.Gly556Glu)
c.1646G>A (p.Gly549Glu)
c.1754G>A (p.Gly585Glu)
 dbSNP
8g.93923651G>CCA371698196PDP1c.1592G>C (p.Gly531Ala)
c.1667G>C (p.Gly556Ala)
c.1646G>C (p.Gly549Ala)
c.1754G>C (p.Gly585Ala)
8g.93923651G=CA1803281034PDP1c.1592G= (p.Gly531=)
c.1667G= (p.Gly556=)
c.1646G= (p.Gly549=)
c.1754G= (p.Gly585=)
8g.93923651G>TCA371698197PDP1c.1592G>T (p.Gly531Val)
c.1667G>T (p.Gly556Val)
c.1646G>T (p.Gly549Val)
c.1754G>T (p.Gly585Val)
 gnomAD v4
8g.93923652G>ACA4808855PDP1c.1593G>A (p.Gly531=)
c.1668G>A (p.Gly556=)
c.1647G>A (p.Gly549=)
c.1755G>A (p.Gly585=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923652G>CCA462118406PDP1c.1593G>C (p.Gly531=)
c.1668G>C (p.Gly556=)
c.1647G>C (p.Gly549=)
c.1755G>C (p.Gly585=)
8g.93923652G=CA1803281035PDP1c.1593G= (p.Gly531=)
c.1668G= (p.Gly556=)
c.1647G= (p.Gly549=)
c.1755G= (p.Gly585=)
8g.93923652G>TCA462118405PDP1c.1593G>T (p.Gly531=)
c.1668G>T (p.Gly556=)
c.1647G>T (p.Gly549=)
c.1755G>T (p.Gly585=)
8g.93923653G>ACA371698200PDP1c.1594G>A (p.Ala532Thr)
c.1669G>A (p.Ala557Thr)
c.1648G>A (p.Ala550Thr)
c.1756G>A (p.Ala586Thr)
8g.93923653G>CCA371698201PDP1c.1594G>C (p.Ala532Pro)
c.1669G>C (p.Ala557Pro)
c.1648G>C (p.Ala550Pro)
c.1756G>C (p.Ala586Pro)
8g.93923653G=CA1803281036PDP1c.1594G= (p.Ala532=)
c.1669G= (p.Ala557=)
c.1648G= (p.Ala550=)
c.1756G= (p.Ala586=)
8g.93923653G>TCA371698203PDP1c.1594G>T (p.Ala532Ser)
c.1669G>T (p.Ala557Ser)
c.1648G>T (p.Ala550Ser)
c.1756G>T (p.Ala586Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.93923654C>ACA371698205PDP1c.1595C>A (p.Ala532Glu)
c.1670C>A (p.Ala557Glu)
c.1649C>A (p.Ala550Glu)
c.1757C>A (p.Ala586Glu)
8g.93923654C=CA1803281037PDP1c.1595C= (p.Ala532=)
c.1670C= (p.Ala557=)
c.1649C= (p.Ala550=)
c.1757C= (p.Ala586=)
8g.93923654C>GCA371698208PDP1c.1595C>G (p.Ala532Gly)
c.1670C>G (p.Ala557Gly)
c.1649C>G (p.Ala550Gly)
c.1757C>G (p.Ala586Gly)
8g.93923654C>TCA4808856PDP1c.1595C>T (p.Ala532Val)
c.1670C>T (p.Ala557Val)
c.1649C>T (p.Ala550Val)
c.1757C>T (p.Ala586Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923655G>ACA4808857PDP1c.1596G>A (p.Ala532=)
c.1671G>A (p.Ala557=)
c.1650G>A (p.Ala550=)
c.1758G>A (p.Ala586=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923655G>CCA462118407PDP1c.1596G>C (p.Ala532=)
c.1671G>C (p.Ala557=)
c.1650G>C (p.Ala550=)
c.1758G>C (p.Ala586=)
8g.93923655G=CA1803281038PDP1c.1596G= (p.Ala532=)
c.1671G= (p.Ala557=)
c.1650G= (p.Ala550=)
c.1758G= (p.Ala586=)
8g.93923655G>TCA462118408PDP1c.1596G>T (p.Ala532=)
c.1671G>T (p.Ala557=)
c.1650G>T (p.Ala550=)
c.1758G>T (p.Ala586=)
 gnomAD v4
8g.93923656T>ACA371698218PDP1c.1597T>A (p.Tyr533Asn)
c.1672T>A (p.Tyr558Asn)
c.1651T>A (p.Tyr551Asn)
c.1759T>A (p.Tyr587Asn)
8g.93923656T>CCA371698216PDP1c.1597T>C (p.Tyr533His)
c.1672T>C (p.Tyr558His)
c.1651T>C (p.Tyr551His)
c.1759T>C (p.Tyr587His)
 ClinVar dbSNP gnomAD v4
8g.93923656T>GCA371698214PDP1c.1597T>G (p.Tyr533Asp)
c.1672T>G (p.Tyr558Asp)
c.1651T>G (p.Tyr551Asp)
c.1759T>G (p.Tyr587Asp)
8g.93923656T=CA1803281039PDP1c.1597T= (p.Tyr533=)
c.1672T= (p.Tyr558=)
c.1651T= (p.Tyr551=)
c.1759T= (p.Tyr587=)
8g.93923657A=CA1803281040PDP1c.1598A= (p.Tyr533=)
c.1673A= (p.Tyr558=)
c.1652A= (p.Tyr551=)
c.1760A= (p.Tyr587=)
8g.93923657A>CCA371698225PDP1c.1598A>C (p.Tyr533Ser)
c.1673A>C (p.Tyr558Ser)
c.1652A>C (p.Tyr551Ser)
c.1760A>C (p.Tyr587Ser)
8g.93923657A>GCA371698222PDP1c.1598A>G (p.Tyr533Cys)
c.1673A>G (p.Tyr558Cys)
c.1652A>G (p.Tyr551Cys)
c.1760A>G (p.Tyr587Cys)
8g.93923657A>TCA371698224PDP1c.1598A>T (p.Tyr533Phe)
c.1673A>T (p.Tyr558Phe)
c.1652A>T (p.Tyr551Phe)
c.1760A>T (p.Tyr587Phe)
 dbSNP gnomAD v2
8g.93923658T>ACA371698227PDP1c.1599T>A (p.Tyr533Ter)
c.1674T>A (p.Tyr558Ter)
c.1653T>A (p.Tyr551Ter)
c.1761T>A (p.Tyr587Ter)
8g.93923658T>CCA462118409PDP1c.1599T>C (p.Tyr533=)
c.1674T>C (p.Tyr558=)
c.1653T>C (p.Tyr551=)
c.1761T>C (p.Tyr587=)
8g.93923658T>GCA371698228PDP1c.1599T>G (p.Tyr533Ter)
c.1674T>G (p.Tyr558Ter)
c.1653T>G (p.Tyr551Ter)
c.1761T>G (p.Tyr587Ter)
8g.93923659C>ACA371698231PDP1c.1600C>A (p.Gln534Lys)
c.1675C>A (p.Gln559Lys)
c.1654C>A (p.Gln552Lys)
c.1762C>A (p.Gln588Lys)
8g.93923659C=CA1803281041PDP1c.1600C= (p.Gln534=)
c.1675C= (p.Gln559=)
c.1654C= (p.Gln552=)
c.1762C= (p.Gln588=)
8g.93923659C>GCA371698233PDP1c.1600C>G (p.Gln534Glu)
c.1675C>G (p.Gln559Glu)
c.1654C>G (p.Gln552Glu)
c.1762C>G (p.Gln588Glu)
 gnomAD v4
8g.93923659C>TCA371698235PDP1c.1600C>T (p.Gln534Ter)
c.1675C>T (p.Gln559Ter)
c.1654C>T (p.Gln552Ter)
c.1762C>T (p.Gln588Ter)
 dbSNP
8g.93923660A>CCA371698238PDP1c.1601A>C (p.Gln534Pro)
c.1676A>C (p.Gln559Pro)
c.1655A>C (p.Gln552Pro)
c.1763A>C (p.Gln588Pro)
8g.93923660A>GCA371698240PDP1c.1601A>G (p.Gln534Arg)
c.1676A>G (p.Gln559Arg)
c.1655A>G (p.Gln552Arg)
c.1763A>G (p.Gln588Arg)
 ClinVar dbSNP gnomAD v4
8g.93923660A>TCA371698241PDP1c.1601A>T (p.Gln534Leu)
c.1676A>T (p.Gln559Leu)
c.1655A>T (p.Gln552Leu)
c.1763A>T (p.Gln588Leu)
8g.93923661A>CCA371698243PDP1c.1602A>C (p.Gln534His)
c.1677A>C (p.Gln559His)
c.1656A>C (p.Gln552His)
c.1764A>C (p.Gln588His)
8g.93923661A>GCA462118410PDP1c.1602A>G (p.Gln534=)
c.1677A>G (p.Gln559=)
c.1656A>G (p.Gln552=)
c.1764A>G (p.Gln588=)
8g.93923661A>TCA371698245PDP1c.1602A>T (p.Gln534His)
c.1677A>T (p.Gln559His)
c.1656A>T (p.Gln552His)
c.1764A>T (p.Gln588His)
8g.93923662A>CCA371698252PDP1c.1603A>C (p.Asn535His)
c.1678A>C (p.Asn560His)
c.1657A>C (p.Asn553His)
c.1765A>C (p.Asn589His)
8g.93923662A>GCA371698249PDP1c.1603A>G (p.Asn535Asp)
c.1678A>G (p.Asn560Asp)
c.1657A>G (p.Asn553Asp)
c.1765A>G (p.Asn589Asp)
8g.93923662A>TCA371698247PDP1c.1603A>T (p.Asn535Tyr)
c.1678A>T (p.Asn560Tyr)
c.1657A>T (p.Asn553Tyr)
c.1765A>T (p.Asn589Tyr)
8g.93923663A=CA1803281042PDP1c.1604A= (p.Asn535=)
c.1679A= (p.Asn560=)
c.1658A= (p.Asn553=)
c.1766A= (p.Asn589=)
8g.93923663A>CCA371698254PDP1c.1604A>C (p.Asn535Thr)
c.1679A>C (p.Asn560Thr)
c.1658A>C (p.Asn553Thr)
c.1766A>C (p.Asn589Thr)
8g.93923663A>GCA371698256PDP1c.1604A>G (p.Asn535Ser)
c.1679A>G (p.Asn560Ser)
c.1658A>G (p.Asn553Ser)
c.1766A>G (p.Asn589Ser)
 gnomAD v4
8g.93923663A>TCA371698257PDP1c.1604A>T (p.Asn535Ile)
c.1679A>T (p.Asn560Ile)
c.1658A>T (p.Asn553Ile)
c.1766A>T (p.Asn589Ile)
 dbSNP
8g.93923664C>ACA371698260PDP1c.1605C>A (p.Asn535Lys)
c.1680C>A (p.Asn560Lys)
c.1659C>A (p.Asn553Lys)
c.1767C>A (p.Asn589Lys)
8g.93923664C>GCA371698261PDP1c.1605C>G (p.Asn535Lys)
c.1680C>G (p.Asn560Lys)
c.1659C>G (p.Asn553Lys)
c.1767C>G (p.Asn589Lys)
8g.93923664C>TCA462118414PDP1c.1605C>T (p.Asn535=)
c.1680C>T (p.Asn560=)
c.1659C>T (p.Asn553=)
c.1767C>T (p.Asn589=)
8g.93923665C>ACA371698263PDP1c.1606C>A (p.Gln536Lys)
c.1681C>A (p.Gln561Lys)
c.1660C>A (p.Gln554Lys)
c.1768C>A (p.Gln590Lys)
8g.93923665C=CA1803281043PDP1c.1606C= (p.Gln536=)
c.1681C= (p.Gln561=)
c.1660C= (p.Gln554=)
c.1768C= (p.Gln590=)
8g.93923665C>GCA371698265PDP1c.1606C>G (p.Gln536Glu)
c.1681C>G (p.Gln561Glu)
c.1660C>G (p.Gln554Glu)
c.1768C>G (p.Gln590Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.93923665C>TCA371698267PDP1c.1606C>T (p.Gln536Ter)
c.1681C>T (p.Gln561Ter)
c.1660C>T (p.Gln554Ter)
c.1768C>T (p.Gln590Ter)
 gnomAD v4
8g.93923666A=CA1803281044PDP1c.1607A= (p.Gln536=)
c.1682A= (p.Gln561=)
c.1661A= (p.Gln554=)
c.1769A= (p.Gln590=)
8g.93923666A>CCA371698268PDP1c.1607A>C (p.Gln536Pro)
c.1682A>C (p.Gln561Pro)
c.1661A>C (p.Gln554Pro)
c.1769A>C (p.Gln590Pro)
8g.93923666A>GCA371698269PDP1c.1607A>G (p.Gln536Arg)
c.1682A>G (p.Gln561Arg)
c.1661A>G (p.Gln554Arg)
c.1769A>G (p.Gln590Arg)
 dbSNP
8g.93923666A>TCA371698271PDP1c.1607A>T (p.Gln536Leu)
c.1682A>T (p.Gln561Leu)
c.1661A>T (p.Gln554Leu)
c.1769A>T (p.Gln590Leu)
8g.93923666_93923667insCCAAACACACCCAACACCA2781329154PDP1c.1607_1608insCCAAACACACCCAACAC (p.Gln536HisfsTer34)
c.1682_1683insCCAAACACACCCAACAC (p.Gln561HisfsTer34)
c.1661_1662insCCAAACACACCCAACAC (p.Gln554HisfsTer34)
c.1769_1770insCCAAACACACCCAACAC (p.Gln590HisfsTer34)
8g.93923667A=CA1803281045PDP1c.1608A= (p.Gln536=)
c.1683A= (p.Gln561=)
c.1662A= (p.Gln554=)
c.1770A= (p.Gln590=)
8g.93923667A>CCA371698273PDP1c.1608A>C (p.Gln536His)
c.1683A>C (p.Gln561His)
c.1662A>C (p.Gln554His)
c.1770A>C (p.Gln590His)
8g.93923667A>GCA462118419PDP1c.1608A>G (p.Gln536=)
c.1683A>G (p.Gln561=)
c.1662A>G (p.Gln554=)
c.1770A>G (p.Gln590=)
 dbSNP gnomAD v2 gnomAD v4
8g.93923667A>TCA371698275PDP1c.1608A>T (p.Gln536His)
c.1683A>T (p.Gln561His)
c.1662A>T (p.Gln554His)
c.1770A>T (p.Gln590His)
 dbSNP gnomAD v3 gnomAD v4
8g.93923668G>ACA371698279PDP1c.1609G>A (p.Glu537Lys)
c.1684G>A (p.Glu562Lys)
c.1663G>A (p.Glu555Lys)
c.1771G>A (p.Glu591Lys)
8g.93923668G>CCA371698281PDP1c.1609G>C (p.Glu537Gln)
c.1684G>C (p.Glu562Gln)
c.1663G>C (p.Glu555Gln)
c.1771G>C (p.Glu591Gln)
8g.93923668G>TCA371698277PDP1c.1609G>T (p.Glu537Ter)
c.1684G>T (p.Glu562Ter)
c.1663G>T (p.Glu555Ter)
c.1771G>T (p.Glu591Ter)
 gnomAD v4
8g.93923669A>CCA371698282PDP1c.1610A>C (p.Glu537Ala)
c.1685A>C (p.Glu562Ala)
c.1664A>C (p.Glu555Ala)
c.1772A>C (p.Glu591Ala)
 COSMIC COSMIC
8g.93923669A>GCA371698286PDP1c.1610A>G (p.Glu537Gly)
c.1685A>G (p.Glu562Gly)
c.1664A>G (p.Glu555Gly)
c.1772A>G (p.Glu591Gly)
8g.93923669A>TCA371698284PDP1c.1610A>T (p.Glu537Val)
c.1685A>T (p.Glu562Val)
c.1664A>T (p.Glu555Val)
c.1772A>T (p.Glu591Val)
8g.93923670A>CCA371698288PDP1c.1611A>C (p.Glu537Asp)
c.1686A>C (p.Glu562Asp)
c.1665A>C (p.Glu555Asp)
c.1773A>C (p.Glu591Asp)
8g.93923670A>GCA462118421PDP1c.1611A>G (p.Glu537=)
c.1686A>G (p.Glu562=)
c.1665A>G (p.Glu555=)
c.1773A>G (p.Glu591=)
 dbSNP gnomAD v4
8g.93923670A>TCA371698290PDP1c.1611A>T (p.Glu537Asp)
c.1686A>T (p.Glu562Asp)
c.1665A>T (p.Glu555Asp)
c.1773A>T (p.Glu591Asp)
 ClinVar dbSNP
8g.93923671T>ACA371698292PDP1c.1612T>A (p.Ter538Lys)
c.1687T>A (p.Ter563Lys)
c.1666T>A (p.Ter556Lys)
c.1774T>A (p.Ter592Lys)
8g.93923671T>CCA371698294PDP1c.1612T>C (p.Ter538Gln)
c.1687T>C (p.Ter563Gln)
c.1666T>C (p.Ter556Gln)
c.1774T>C (p.Ter592Gln)
8g.93923671T>GCA371698296PDP1c.1612T>G (p.Ter538Glu)
c.1687T>G (p.Ter563Glu)
c.1666T>G (p.Ter556Glu)
c.1774T>G (p.Ter592Glu)
8g.93923672A>CCA371698298PDP1c.1613A>C (p.Ter538Ser)
c.1688A>C (p.Ter563Ser)
c.1667A>C (p.Ter556Ser)
c.1775A>C (p.Ter592Ser)
8g.93923672A>GCA371698300PDP1c.1613A>G (p.Ter538Trp)
c.1688A>G (p.Ter563Trp)
c.1667A>G (p.Ter556Trp)
c.1775A>G (p.Ter592Trp)
8g.93923672A>TCA371698302PDP1c.1613A>T (p.Ter538Leu)
c.1688A>T (p.Ter563Leu)
c.1667A>T (p.Ter556Leu)
c.1775A>T (p.Ter592Leu)
8g.93923673G>ACA462118423PDP1c.1614G>A (p.Ter538=)
c.1689G>A (p.Ter563=)
c.1668G>A (p.Ter556=)
c.1776G>A (p.Ter592=)
 gnomAD v4
8g.93923673G>CCA181376536PDP1c.1614G>C (p.Ter538Tyr)
c.1689G>C (p.Ter563Tyr)
c.1668G>C (p.Ter556Tyr)
c.1776G>C (p.Ter592Tyr)
 ClinVar dbSNP gnomAD v4
8g.93923673G=CA1803281046PDP1c.1614G= (p.Ter538=)
c.1689G= (p.Ter563=)
c.1668G= (p.Ter556=)
c.1776G= (p.Ter592=)
8g.93923673G>TCA371698304PDP1c.1614G>T (p.Ter538Tyr)
c.1689G>T (p.Ter563Tyr)
c.1668G>T (p.Ter556Tyr)
c.1776G>T (p.Ter592Tyr)
 COSMIC COSMIC
8g.93923674T>CCA4808858PDP1c.*1T>C (n.*1T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923674T=CA1803281047PDP1c.*1T= (n.*1T=)
8g.93923675G>CCA4808859PDP1c.*2G>C (n.*2G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923675G=CA1803281048PDP1c.*2G= (n.*2G=)
8g.93923675G>TCA2687927930PDP1c.*2G>T (n.*2G>T)
 gnomAD v4
8g.93923676_93923677insAAGAGCCACTCACTATTCTTCA2687927932PDP1c.*3_*4insAAGAGCCACTCACTATTCTT (n.*3_*4insAAGAGCCACTCACTATTCTT)
 gnomAD v4
8g.93923678T>ACA2687927934PDP1c.*5T>A (n.*5T>A)
 gnomAD v4
8g.93923679_93923682dupCA2687927933PDP1c.*6_*9dup (n.*6_*9dup)
 gnomAD v4
8g.93923679G>ACA2687927937PDP1c.*6G>A (n.*6G>A)
 gnomAD v4
8g.93923680delCA2687927935PDP1c.*7del (n.*7del)
 gnomAD v4
8g.93923680G>ACA2687927939PDP1c.*7G>A (n.*7G>A)
 gnomAD v4
8g.93923681C>GCA2567735802PDP1c.*8C>G (n.*8C>G)
8g.93923682T>CCA2687927941PDP1c.*9T>C (n.*9T>C)
 gnomAD v4
8g.93923683C>ACA2687927942PDP1c.*10C>A (n.*10C>A)
 gnomAD v4
8g.93923686dupCA2687927944PDP1c.*13dup (n.*13dup)
 gnomAD v4
8g.93923686T>CCA1803281050PDP1c.*13T>C (n.*13T>C)
 dbSNP
8g.93923686T=CA1803281049PDP1c.*13T= (n.*13T=)
8g.93923686_93923687delCA2506390581PDP1c.*13_*14del (n.*13_*14del)
8g.93923687C>ACA2687927945PDP1c.*14C>A (n.*14C>A)
 gnomAD v4
8g.93923687C=CA1803281051PDP1c.*14C= (n.*14C=)
8g.93923687C>GCA2687927946PDP1c.*14C>G (n.*14C>G)
 gnomAD v4
8g.93923687C>TCA4808860PDP1c.*14C>T (n.*14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923688A=CA1803281052PDP1c.*15A= (n.*15A=)
8g.93923688A>GCA1803281053PDP1c.*15A>G (n.*15A>G)
 dbSNP gnomAD v4
8g.93923689C>ACA4808861PDP1c.*16C>A (n.*16C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923689C=CA1803281054PDP1c.*16C= (n.*16C=)
8g.93923689_93923690insCACA2555468053PDP1c.*16_*17insCA (n.*16_*17insCA)
8g.93923690T>ACA2550138783PDP1c.*17T>A (n.*17T>A)
8g.93923691G>ACA2687927953PDP1c.*18G>A (n.*18G>A)
 gnomAD v4
8g.93923691G>TCA2687927955PDP1c.*18G>T (n.*18G>T)
 gnomAD v4
8g.93923692delCA2687927952PDP1c.*19del (n.*19del)
 gnomAD v4
8g.93923692G>ACA2687927956PDP1c.*19G>A (n.*19G>A)
 gnomAD v4
8g.93923692G>CCA2687927957PDP1c.*19G>C (n.*19G>C)
 gnomAD v4
8g.93923693C>ACA2687927959PDP1c.*20C>A (n.*20C>A)
 gnomAD v4
8g.93923693C=CA1803281055PDP1c.*20C= (n.*20C=)
8g.93923693C>GCA4808862PDP1c.*20C>G (n.*20C>G)
 dbSNP ExAC
8g.93923693C>TCA2687927960PDP1c.*20C>T (n.*20C>T)
 gnomAD v4
8g.93923695A=CA1803281056PDP1c.*22A= (n.*22A=)
8g.93923695A>GCA181376568PDP1c.*22A>G (n.*22A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched