Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.93923561_93923562delCA2687927879PDP1c.1502_1503del (p.Ser501Ter)
c.1577_1578del (p.Ser526Ter)
c.1556_1557del (p.Ser519Ter)
c.1664_1665del (p.Ser555Ter)
 gnomAD v4
8g.93923559C>ACA462118292PDP1c.1500C>A (p.Leu500=)
c.1575C>A (p.Leu525=)
c.1554C>A (p.Leu518=)
c.1662C>A (p.Leu554=)
8g.93923559C=CA1803281000PDP1c.1500C= (p.Leu500=)
c.1575C= (p.Leu525=)
c.1554C= (p.Leu518=)
c.1662C= (p.Leu554=)
8g.93923559C>GCA462118293PDP1c.1500C>G (p.Leu500=)
c.1575C>G (p.Leu525=)
c.1554C>G (p.Leu518=)
c.1662C>G (p.Leu554=)
8g.93923559C>TCA462118294PDP1c.1500C>T (p.Leu500=)
c.1575C>T (p.Leu525=)
c.1554C>T (p.Leu518=)
c.1662C>T (p.Leu554=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.93923560T>ACA371697737PDP1c.1501T>A (p.Ser501Thr)
c.1576T>A (p.Ser526Thr)
c.1555T>A (p.Ser519Thr)
c.1663T>A (p.Ser555Thr)
8g.93923560T>CCA371697740PDP1c.1501T>C (p.Ser501Pro)
c.1576T>C (p.Ser526Pro)
c.1555T>C (p.Ser519Pro)
c.1663T>C (p.Ser555Pro)
8g.93923560T>GCA371697745PDP1c.1501T>G (p.Ser501Ala)
c.1576T>G (p.Ser526Ala)
c.1555T>G (p.Ser519Ala)
c.1663T>G (p.Ser555Ala)
8g.93923561C>ACA371697750PDP1c.1502C>A (p.Ser501Tyr)
c.1577C>A (p.Ser526Tyr)
c.1556C>A (p.Ser519Tyr)
c.1664C>A (p.Ser555Tyr)
8g.93923561C=CA1803281001PDP1c.1502C= (p.Ser501=)
c.1577C= (p.Ser526=)
c.1556C= (p.Ser519=)
c.1664C= (p.Ser555=)
8g.93923561C>GCA4808842PDP1c.1502C>G (p.Ser501Cys)
c.1577C>G (p.Ser526Cys)
c.1556C>G (p.Ser519Cys)
c.1664C>G (p.Ser555Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923561C>TCA371697748PDP1c.1502C>T (p.Ser501Phe)
c.1577C>T (p.Ser526Phe)
c.1556C>T (p.Ser519Phe)
c.1664C>T (p.Ser555Phe)
8g.93923561dupCA2740962484PDP1c.1502dup (p.Lys502Ter)
c.1577dup (p.Lys527Ter)
c.1556dup (p.Lys520Ter)
c.1664dup (p.Lys556Ter)
8g.93923562T>ACA462118296PDP1c.1503T>A (p.Ser501=)
c.1578T>A (p.Ser526=)
c.1557T>A (p.Ser519=)
c.1665T>A (p.Ser555=)
8g.93923562T>CCA4808843PDP1c.1503T>C (p.Ser501=)
c.1578T>C (p.Ser526=)
c.1557T>C (p.Ser519=)
c.1665T>C (p.Ser555=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923562T>GCA462118298PDP1c.1503T>G (p.Ser501=)
c.1578T>G (p.Ser526=)
c.1557T>G (p.Ser519=)
c.1665T>G (p.Ser555=)
8g.93923562T=CA1803281002PDP1c.1503T= (p.Ser501=)
c.1578T= (p.Ser526=)
c.1557T= (p.Ser519=)
c.1665T= (p.Ser555=)
8g.93923562_93923563insCCTCCCA2740962485PDP1c.1503_1504insCCTCC (p.Lys502ProfsTer23)
c.1578_1579insCCTCC (p.Lys527ProfsTer23)
c.1557_1558insCCTCC (p.Lys520ProfsTer23)
c.1665_1666insCCTCC (p.Lys556ProfsTer23)
8g.93923563A=CA1803281003PDP1c.1504A= (p.Lys502=)
c.1579A= (p.Lys527=)
c.1558A= (p.Lys520=)
c.1666A= (p.Lys556=)
8g.93923563A>CCA371697762PDP1c.1504A>C (p.Lys502Gln)
c.1579A>C (p.Lys527Gln)
c.1558A>C (p.Lys520Gln)
c.1666A>C (p.Lys556Gln)
8g.93923563A>GCA181376413PDP1c.1504A>G (p.Lys502Glu)
c.1579A>G (p.Lys527Glu)
c.1558A>G (p.Lys520Glu)
c.1666A>G (p.Lys556Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.93923563A>TCA371697760PDP1c.1504A>T (p.Lys502Ter)
c.1579A>T (p.Lys527Ter)
c.1558A>T (p.Lys520Ter)
c.1666A>T (p.Lys556Ter)
8g.93923564A>CCA371697765PDP1c.1505A>C (p.Lys502Thr)
c.1580A>C (p.Lys527Thr)
c.1559A>C (p.Lys520Thr)
c.1667A>C (p.Lys556Thr)
8g.93923564A>GCA371697769PDP1c.1505A>G (p.Lys502Arg)
c.1580A>G (p.Lys527Arg)
c.1559A>G (p.Lys520Arg)
c.1667A>G (p.Lys556Arg)
8g.93923564A>TCA371697771PDP1c.1505A>T (p.Lys502Ile)
c.1580A>T (p.Lys527Ile)
c.1559A>T (p.Lys520Ile)
c.1667A>T (p.Lys556Ile)
8g.93923565A>CCA371697773PDP1c.1506A>C (p.Lys502Asn)
c.1581A>C (p.Lys527Asn)
c.1560A>C (p.Lys520Asn)
c.1668A>C (p.Lys556Asn)
8g.93923565A>GCA462118299PDP1c.1506A>G (p.Lys502=)
c.1581A>G (p.Lys527=)
c.1560A>G (p.Lys520=)
c.1668A>G (p.Lys556=)
8g.93923565A>TCA371697774PDP1c.1506A>T (p.Lys502Asn)
c.1581A>T (p.Lys527Asn)
c.1560A>T (p.Lys520Asn)
c.1668A>T (p.Lys556Asn)
8g.93923565_93923566insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGACA2740962486PDP1c.1506_1507insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGA (p.Met503GlyfsTer35)
c.1581_1582insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGA (p.Met528GlyfsTer35)
c.1560_1561insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGA (p.Met521GlyfsTer35)
c.1668_1669insGGAATGAAGTTCCTTGCCAGCAATGGAACAAAGCTGGATGGAGA (p.Met557GlyfsTer35)
8g.93923566A=CA1803281004PDP1c.1507A= (p.Met503=)
c.1582A= (p.Met528=)
c.1561A= (p.Met521=)
c.1669A= (p.Met557=)
8g.93923566A>CCA371697776PDP1c.1507A>C (p.Met503Leu)
c.1582A>C (p.Met528Leu)
c.1561A>C (p.Met521Leu)
c.1669A>C (p.Met557Leu)
 gnomAD v4
8g.93923566A>GCA371697778PDP1c.1507A>G (p.Met503Val)
c.1582A>G (p.Met528Val)
c.1561A>G (p.Met521Val)
c.1669A>G (p.Met557Val)
 dbSNP gnomAD v3 gnomAD v4
8g.93923566A>TCA371697780PDP1c.1507A>T (p.Met503Leu)
c.1582A>T (p.Met528Leu)
c.1561A>T (p.Met521Leu)
c.1669A>T (p.Met557Leu)
8g.93923567T>ACA371697781PDP1c.1508T>A (p.Met503Lys)
c.1583T>A (p.Met528Lys)
c.1562T>A (p.Met521Lys)
c.1670T>A (p.Met557Lys)
8g.93923567T>CCA371697782PDP1c.1508T>C (p.Met503Thr)
c.1583T>C (p.Met528Thr)
c.1562T>C (p.Met521Thr)
c.1670T>C (p.Met557Thr)
8g.93923567T>GCA371697783PDP1c.1508T>G (p.Met503Arg)
c.1583T>G (p.Met528Arg)
c.1562T>G (p.Met521Arg)
c.1670T>G (p.Met557Arg)
8g.93923568G>ACA371697787PDP1c.1509G>A (p.Met503Ile)
c.1584G>A (p.Met528Ile)
c.1563G>A (p.Met521Ile)
c.1671G>A (p.Met557Ile)
8g.93923568G>CCA371697785PDP1c.1509G>C (p.Met503Ile)
c.1584G>C (p.Met528Ile)
c.1563G>C (p.Met521Ile)
c.1671G>C (p.Met557Ile)
8g.93923568G>TCA371697786PDP1c.1509G>T (p.Met503Ile)
c.1584G>T (p.Met528Ile)
c.1563G>T (p.Met521Ile)
c.1671G>T (p.Met557Ile)
 gnomAD v4 COSMIC COSMIC
8g.93923569C>ACA371697789PDP1c.1510C>A (p.Leu504Ile)
c.1585C>A (p.Leu529Ile)
c.1564C>A (p.Leu522Ile)
c.1672C>A (p.Leu558Ile)
8g.93923569C=CA1803281005PDP1c.1510C= (p.Leu504=)
c.1585C= (p.Leu529=)
c.1564C= (p.Leu522=)
c.1672C= (p.Leu558=)
8g.93923569C>GCA371697790PDP1c.1510C>G (p.Leu504Val)
c.1585C>G (p.Leu529Val)
c.1564C>G (p.Leu522Val)
c.1672C>G (p.Leu558Val)
8g.93923569C>TCA371697792PDP1c.1510C>T (p.Leu504Phe)
c.1585C>T (p.Leu529Phe)
c.1564C>T (p.Leu522Phe)
c.1672C>T (p.Leu558Phe)
 dbSNP gnomAD v4
8g.93923570T>ACA371697794PDP1c.1511T>A (p.Leu504His)
c.1586T>A (p.Leu529His)
c.1565T>A (p.Leu522His)
c.1673T>A (p.Leu558His)
8g.93923570T>CCA371697795PDP1c.1511T>C (p.Leu504Pro)
c.1586T>C (p.Leu529Pro)
c.1565T>C (p.Leu522Pro)
c.1673T>C (p.Leu558Pro)
8g.93923570T>GCA371697796PDP1c.1511T>G (p.Leu504Arg)
c.1586T>G (p.Leu529Arg)
c.1565T>G (p.Leu522Arg)
c.1673T>G (p.Leu558Arg)
8g.93923571T>ACA462118304PDP1c.1512T>A (p.Leu504=)
c.1587T>A (p.Leu529=)
c.1566T>A (p.Leu522=)
c.1674T>A (p.Leu558=)
8g.93923571T>CCA462118305PDP1c.1512T>C (p.Leu504=)
c.1587T>C (p.Leu529=)
c.1566T>C (p.Leu522=)
c.1674T>C (p.Leu558=)
8g.93923571T>GCA462118307PDP1c.1512T>G (p.Leu504=)
c.1587T>G (p.Leu529=)
c.1566T>G (p.Leu522=)
c.1674T>G (p.Leu558=)
8g.93923572A=CA1803281006PDP1c.1513A= (p.Ser505=)
c.1588A= (p.Ser530=)
c.1567A= (p.Ser523=)
c.1675A= (p.Ser559=)
8g.93923572A>CCA371697798PDP1c.1513A>C (p.Ser505Arg)
c.1588A>C (p.Ser530Arg)
c.1567A>C (p.Ser523Arg)
c.1675A>C (p.Ser559Arg)
8g.93923572A>GCA371697800PDP1c.1513A>G (p.Ser505Gly)
c.1588A>G (p.Ser530Gly)
c.1567A>G (p.Ser523Gly)
c.1675A>G (p.Ser559Gly)
 dbSNP
8g.93923572A>TCA371697801PDP1c.1513A>T (p.Ser505Cys)
c.1588A>T (p.Ser530Cys)
c.1567A>T (p.Ser523Cys)
c.1675A>T (p.Ser559Cys)
8g.93923573G>ACA371697803PDP1c.1514G>A (p.Ser505Asn)
c.1589G>A (p.Ser530Asn)
c.1568G>A (p.Ser523Asn)
c.1676G>A (p.Ser559Asn)
8g.93923573G>CCA371697804PDP1c.1514G>C (p.Ser505Thr)
c.1589G>C (p.Ser530Thr)
c.1568G>C (p.Ser523Thr)
c.1676G>C (p.Ser559Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.93923573G=CA1803281007PDP1c.1514G= (p.Ser505=)
c.1589G= (p.Ser530=)
c.1568G= (p.Ser523=)
c.1676G= (p.Ser559=)
8g.93923573G>TCA371697806PDP1c.1514G>T (p.Ser505Ile)
c.1589G>T (p.Ser530Ile)
c.1568G>T (p.Ser523Ile)
c.1676G>T (p.Ser559Ile)
8g.93923574T>ACA371697808PDP1c.1515T>A (p.Ser505Arg)
c.1590T>A (p.Ser530Arg)
c.1569T>A (p.Ser523Arg)
c.1677T>A (p.Ser559Arg)
8g.93923574T>CCA462118309PDP1c.1515T>C (p.Ser505=)
c.1590T>C (p.Ser530=)
c.1569T>C (p.Ser523=)
c.1677T>C (p.Ser559=)
8g.93923574T>GCA371697807PDP1c.1515T>G (p.Ser505Arg)
c.1590T>G (p.Ser530Arg)
c.1569T>G (p.Ser523Arg)
c.1677T>G (p.Ser559Arg)
8g.93923575C>ACA371697809PDP1c.1516C>A (p.Leu506Ile)
c.1591C>A (p.Leu531Ile)
c.1570C>A (p.Leu524Ile)
c.1678C>A (p.Leu560Ile)
8g.93923575C>GCA371697811PDP1c.1516C>G (p.Leu506Val)
c.1591C>G (p.Leu531Val)
c.1570C>G (p.Leu524Val)
c.1678C>G (p.Leu560Val)
8g.93923575C>TCA371697812PDP1c.1516C>T (p.Leu506Phe)
c.1591C>T (p.Leu531Phe)
c.1570C>T (p.Leu524Phe)
c.1678C>T (p.Leu560Phe)
8g.93923576T>ACA371697813PDP1c.1517T>A (p.Leu506His)
c.1592T>A (p.Leu531His)
c.1571T>A (p.Leu524His)
c.1679T>A (p.Leu560His)
8g.93923576T>CCA371697814PDP1c.1517T>C (p.Leu506Pro)
c.1592T>C (p.Leu531Pro)
c.1571T>C (p.Leu524Pro)
c.1679T>C (p.Leu560Pro)
8g.93923576T>GCA371697816PDP1c.1517T>G (p.Leu506Arg)
c.1592T>G (p.Leu531Arg)
c.1571T>G (p.Leu524Arg)
c.1679T>G (p.Leu560Arg)
8g.93923577T>ACA462118317PDP1c.1518T>A (p.Leu506=)
c.1593T>A (p.Leu531=)
c.1572T>A (p.Leu524=)
c.1680T>A (p.Leu560=)
8g.93923577T>CCA462118316PDP1c.1518T>C (p.Leu506=)
c.1593T>C (p.Leu531=)
c.1572T>C (p.Leu524=)
c.1680T>C (p.Leu560=)
8g.93923577T>GCA462118315PDP1c.1518T>G (p.Leu506=)
c.1593T>G (p.Leu531=)
c.1572T>G (p.Leu524=)
c.1680T>G (p.Leu560=)
8g.93923578C>ACA371697823PDP1c.1519C>A (p.Pro507Thr)
c.1594C>A (p.Pro532Thr)
c.1573C>A (p.Pro525Thr)
c.1681C>A (p.Pro561Thr)
8g.93923578C>GCA371697821PDP1c.1519C>G (p.Pro507Ala)
c.1594C>G (p.Pro532Ala)
c.1573C>G (p.Pro525Ala)
c.1681C>G (p.Pro561Ala)
8g.93923578C>TCA371697820PDP1c.1519C>T (p.Pro507Ser)
c.1594C>T (p.Pro532Ser)
c.1573C>T (p.Pro525Ser)
c.1681C>T (p.Pro561Ser)
8g.93923579C>ACA371697824PDP1c.1520C>A (p.Pro507His)
c.1595C>A (p.Pro532His)
c.1574C>A (p.Pro525His)
c.1682C>A (p.Pro561His)
8g.93923579C=CA1803281008PDP1c.1520C= (p.Pro507=)
c.1595C= (p.Pro532=)
c.1574C= (p.Pro525=)
c.1682C= (p.Pro561=)
8g.93923579C>GCA4808844PDP1c.1520C>G (p.Pro507Arg)
c.1595C>G (p.Pro532Arg)
c.1574C>G (p.Pro525Arg)
c.1682C>G (p.Pro561Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923579C>TCA371697826PDP1c.1520C>T (p.Pro507Leu)
c.1595C>T (p.Pro532Leu)
c.1574C>T (p.Pro525Leu)
c.1682C>T (p.Pro561Leu)
8g.93923580T>ACA462118319PDP1c.1521T>A (p.Pro507=)
c.1596T>A (p.Pro532=)
c.1575T>A (p.Pro525=)
c.1683T>A (p.Pro561=)
8g.93923580T>CCA462118320PDP1c.1521T>C (p.Pro507=)
c.1596T>C (p.Pro532=)
c.1575T>C (p.Pro525=)
c.1683T>C (p.Pro561=)
 ClinVar gnomAD v4
8g.93923580T>GCA462118321PDP1c.1521T>G (p.Pro507=)
c.1596T>G (p.Pro532=)
c.1575T>G (p.Pro525=)
c.1683T>G (p.Pro561=)
8g.93923581G>ACA371697828PDP1c.1522G>A (p.Glu508Lys)
c.1597G>A (p.Glu533Lys)
c.1576G>A (p.Glu526Lys)
c.1684G>A (p.Glu562Lys)
8g.93923581G>CCA371697829PDP1c.1522G>C (p.Glu508Gln)
c.1597G>C (p.Glu533Gln)
c.1576G>C (p.Glu526Gln)
c.1684G>C (p.Glu562Gln)
8g.93923581G>TCA371697831PDP1c.1522G>T (p.Glu508Ter)
c.1597G>T (p.Glu533Ter)
c.1576G>T (p.Glu526Ter)
c.1684G>T (p.Glu562Ter)
8g.93923582A>CCA371697833PDP1c.1523A>C (p.Glu508Ala)
c.1598A>C (p.Glu533Ala)
c.1577A>C (p.Glu526Ala)
c.1685A>C (p.Glu562Ala)
8g.93923582A>GCA371697835PDP1c.1523A>G (p.Glu508Gly)
c.1598A>G (p.Glu533Gly)
c.1577A>G (p.Glu526Gly)
c.1685A>G (p.Glu562Gly)
8g.93923582A>TCA371697834PDP1c.1523A>T (p.Glu508Val)
c.1598A>T (p.Glu533Val)
c.1577A>T (p.Glu526Val)
c.1685A>T (p.Glu562Val)
8g.93923583A>CCA371697836PDP1c.1524A>C (p.Glu508Asp)
c.1599A>C (p.Glu533Asp)
c.1578A>C (p.Glu526Asp)
c.1686A>C (p.Glu562Asp)
 gnomAD v4
8g.93923583A>GCA462118325PDP1c.1524A>G (p.Glu508=)
c.1599A>G (p.Glu533=)
c.1578A>G (p.Glu526=)
c.1686A>G (p.Glu562=)
8g.93923583A>TCA371697838PDP1c.1524A>T (p.Glu508Asp)
c.1599A>T (p.Glu533Asp)
c.1578A>T (p.Glu526Asp)
c.1686A>T (p.Glu562Asp)
8g.93923584G>ACA371697840PDP1c.1525G>A (p.Glu509Lys)
c.1600G>A (p.Glu534Lys)
c.1579G>A (p.Glu527Lys)
c.1687G>A (p.Glu563Lys)
8g.93923584G>CCA371697842PDP1c.1525G>C (p.Glu509Gln)
c.1600G>C (p.Glu534Gln)
c.1579G>C (p.Glu527Gln)
c.1687G>C (p.Glu563Gln)
8g.93923584G>TCA371697843PDP1c.1525G>T (p.Glu509Ter)
c.1600G>T (p.Glu534Ter)
c.1579G>T (p.Glu527Ter)
c.1687G>T (p.Glu563Ter)
8g.93923585A>CCA371697845PDP1c.1526A>C (p.Glu509Ala)
c.1601A>C (p.Glu534Ala)
c.1580A>C (p.Glu527Ala)
c.1688A>C (p.Glu563Ala)
8g.93923585A>GCA371697847PDP1c.1526A>G (p.Glu509Gly)
c.1601A>G (p.Glu534Gly)
c.1580A>G (p.Glu527Gly)
c.1688A>G (p.Glu563Gly)
8g.93923585A>TCA371697848PDP1c.1526A>T (p.Glu509Val)
c.1601A>T (p.Glu534Val)
c.1580A>T (p.Glu527Val)
c.1688A>T (p.Glu563Val)
8g.93923586G>ACA4808845PDP1c.1527G>A (p.Glu509=)
c.1602G>A (p.Glu534=)
c.1581G>A (p.Glu527=)
c.1689G>A (p.Glu563=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923586G>CCA371697852PDP1c.1527G>C (p.Glu509Asp)
c.1602G>C (p.Glu534Asp)
c.1581G>C (p.Glu527Asp)
c.1689G>C (p.Glu563Asp)
8g.93923586G=CA1803281009PDP1c.1527G= (p.Glu509=)
c.1602G= (p.Glu534=)
c.1581G= (p.Glu527=)
c.1689G= (p.Glu563=)
8g.93923586G>TCA371697854PDP1c.1527G>T (p.Glu509Asp)
c.1602G>T (p.Glu534Asp)
c.1581G>T (p.Glu527Asp)
c.1689G>T (p.Glu563Asp)
8g.93923587C>ACA371697860PDP1c.1528C>A (p.Leu510Ile)
c.1603C>A (p.Leu535Ile)
c.1582C>A (p.Leu528Ile)
c.1690C>A (p.Leu564Ile)
8g.93923587C>GCA371697856PDP1c.1528C>G (p.Leu510Val)
c.1603C>G (p.Leu535Val)
c.1582C>G (p.Leu528Val)
c.1690C>G (p.Leu564Val)
8g.93923587C>TCA371697858PDP1c.1528C>T (p.Leu510Phe)
c.1603C>T (p.Leu535Phe)
c.1582C>T (p.Leu528Phe)
c.1690C>T (p.Leu564Phe)
8g.93923588T>ACA371697863PDP1c.1529T>A (p.Leu510His)
c.1604T>A (p.Leu535His)
c.1583T>A (p.Leu528His)
c.1691T>A (p.Leu564His)
 gnomAD v4
8g.93923588T>CCA371697868PDP1c.1529T>C (p.Leu510Pro)
c.1604T>C (p.Leu535Pro)
c.1583T>C (p.Leu528Pro)
c.1691T>C (p.Leu564Pro)
8g.93923588T>GCA371697865PDP1c.1529T>G (p.Leu510Arg)
c.1604T>G (p.Leu535Arg)
c.1583T>G (p.Leu528Arg)
c.1691T>G (p.Leu564Arg)
8g.93923589T>ACA462118332PDP1c.1530T>A (p.Leu510=)
c.1605T>A (p.Leu535=)
c.1584T>A (p.Leu528=)
c.1692T>A (p.Leu564=)
8g.93923589T>CCA462118333PDP1c.1530T>C (p.Leu510=)
c.1605T>C (p.Leu535=)
c.1584T>C (p.Leu528=)
c.1692T>C (p.Leu564=)
8g.93923589T>GCA462118334PDP1c.1530T>G (p.Leu510=)
c.1605T>G (p.Leu535=)
c.1584T>G (p.Leu528=)
c.1692T>G (p.Leu564=)
8g.93923590G>ACA371697870PDP1c.1531G>A (p.Ala511Thr)
c.1606G>A (p.Ala536Thr)
c.1585G>A (p.Ala529Thr)
c.1693G>A (p.Ala565Thr)
8g.93923590G>CCA371697872PDP1c.1531G>C (p.Ala511Pro)
c.1606G>C (p.Ala536Pro)
c.1585G>C (p.Ala529Pro)
c.1693G>C (p.Ala565Pro)
8g.93923590G>TCA371697874PDP1c.1531G>T (p.Ala511Ser)
c.1606G>T (p.Ala536Ser)
c.1585G>T (p.Ala529Ser)
c.1693G>T (p.Ala565Ser)
8g.93923591C>ACA371697875PDP1c.1532C>A (p.Ala511Asp)
c.1607C>A (p.Ala536Asp)
c.1586C>A (p.Ala529Asp)
c.1694C>A (p.Ala565Asp)
8g.93923591C=CA1803281010PDP1c.1532C= (p.Ala511=)
c.1607C= (p.Ala536=)
c.1586C= (p.Ala529=)
c.1694C= (p.Ala565=)
8g.93923591C>GCA371697877PDP1c.1532C>G (p.Ala511Gly)
c.1607C>G (p.Ala536Gly)
c.1586C>G (p.Ala529Gly)
c.1694C>G (p.Ala565Gly)
8g.93923591C>TCA371697879PDP1c.1532C>T (p.Ala511Val)
c.1607C>T (p.Ala536Val)
c.1586C>T (p.Ala529Val)
c.1694C>T (p.Ala565Val)
 dbSNP gnomAD v2
8g.93923592T>ACA462118336PDP1c.1533T>A (p.Ala511=)
c.1608T>A (p.Ala536=)
c.1587T>A (p.Ala529=)
c.1695T>A (p.Ala565=)
8g.93923592T>CCA462118337PDP1c.1533T>C (p.Ala511=)
c.1608T>C (p.Ala536=)
c.1587T>C (p.Ala529=)
c.1695T>C (p.Ala565=)
8g.93923592T>GCA462118338PDP1c.1533T>G (p.Ala511=)
c.1608T>G (p.Ala536=)
c.1587T>G (p.Ala529=)
c.1695T>G (p.Ala565=)
8g.93923593C>ACA462118339PDP1c.1534C>A (p.Arg512=)
c.1609C>A (p.Arg537=)
c.1588C>A (p.Arg530=)
c.1696C>A (p.Arg566=)
8g.93923593C=CA1803281011PDP1c.1534C= (p.Arg512=)
c.1609C= (p.Arg537=)
c.1588C= (p.Arg530=)
c.1696C= (p.Arg566=)
8g.93923593C>GCA371697880PDP1c.1534C>G (p.Arg512Gly)
c.1609C>G (p.Arg537Gly)
c.1588C>G (p.Arg530Gly)
c.1696C>G (p.Arg566Gly)
8g.93923593C>TCA181376423PDP1c.1534C>T (p.Arg512Ter)
c.1609C>T (p.Arg537Ter)
c.1588C>T (p.Arg530Ter)
c.1696C>T (p.Arg566Ter)
 dbSNP gnomAD v4
8g.93923594G>ACA371697882PDP1c.1535G>A (p.Arg512Gln)
c.1610G>A (p.Arg537Gln)
c.1589G>A (p.Arg530Gln)
c.1697G>A (p.Arg566Gln)
 gnomAD v4
8g.93923594G>CCA371697883PDP1c.1535G>C (p.Arg512Pro)
c.1610G>C (p.Arg537Pro)
c.1589G>C (p.Arg530Pro)
c.1697G>C (p.Arg566Pro)
 COSMIC COSMIC
8g.93923594G>TCA371697885PDP1c.1535G>T (p.Arg512Leu)
c.1610G>T (p.Arg537Leu)
c.1589G>T (p.Arg530Leu)
c.1697G>T (p.Arg566Leu)
8g.93923595A>CCA462118341PDP1c.1536A>C (p.Arg512=)
c.1611A>C (p.Arg537=)
c.1590A>C (p.Arg530=)
c.1698A>C (p.Arg566=)
8g.93923595A>GCA462118342PDP1c.1536A>G (p.Arg512=)
c.1611A>G (p.Arg537=)
c.1590A>G (p.Arg530=)
c.1698A>G (p.Arg566=)
 gnomAD v4
8g.93923595A>TCA462118343PDP1c.1536A>T (p.Arg512=)
c.1611A>T (p.Arg537=)
c.1590A>T (p.Arg530=)
c.1698A>T (p.Arg566=)
8g.93923596A>CCA371697888PDP1c.1537A>C (p.Met513Leu)
c.1612A>C (p.Met538Leu)
c.1591A>C (p.Met531Leu)
c.1699A>C (p.Met567Leu)
8g.93923596A>GCA371697890PDP1c.1537A>G (p.Met513Val)
c.1612A>G (p.Met538Val)
c.1591A>G (p.Met531Val)
c.1699A>G (p.Met567Val)
8g.93923596A>TCA371697892PDP1c.1537A>T (p.Met513Leu)
c.1612A>T (p.Met538Leu)
c.1591A>T (p.Met531Leu)
c.1699A>T (p.Met567Leu)
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

Number of alleles fetched