Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.93923595A>C | CA462118341 | PDP1 | c.1536A>C (p.Arg512=) c.1611A>C (p.Arg537=) c.1590A>C (p.Arg530=) c.1698A>C (p.Arg566=) | |
8 | g.93923595A>G | CA462118342 | PDP1 | c.1536A>G (p.Arg512=) c.1611A>G (p.Arg537=) c.1590A>G (p.Arg530=) c.1698A>G (p.Arg566=) | gnomAD v4 |
8 | g.93923595A>T | CA462118343 | PDP1 | c.1536A>T (p.Arg512=) c.1611A>T (p.Arg537=) c.1590A>T (p.Arg530=) c.1698A>T (p.Arg566=) | |
8 | g.93923596A>C | CA371697888 | PDP1 | c.1537A>C (p.Met513Leu) c.1612A>C (p.Met538Leu) c.1591A>C (p.Met531Leu) c.1699A>C (p.Met567Leu) | |
8 | g.93923596A>G | CA371697890 | PDP1 | c.1537A>G (p.Met513Val) c.1612A>G (p.Met538Val) c.1591A>G (p.Met531Val) c.1699A>G (p.Met567Val) | |
8 | g.93923596A>T | CA371697892 | PDP1 | c.1537A>T (p.Met513Leu) c.1612A>T (p.Met538Leu) c.1591A>T (p.Met531Leu) c.1699A>T (p.Met567Leu) | |
8 | g.93923597T>A | CA371697894 | PDP1 | c.1538T>A (p.Met513Lys) c.1613T>A (p.Met538Lys) c.1592T>A (p.Met531Lys) c.1700T>A (p.Met567Lys) | |
8 | g.93923597T>C | CA371697899 | PDP1 | c.1538T>C (p.Met513Thr) c.1613T>C (p.Met538Thr) c.1592T>C (p.Met531Thr) c.1700T>C (p.Met567Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923597T>G | CA371697897 | PDP1 | c.1538T>G (p.Met513Arg) c.1613T>G (p.Met538Arg) c.1592T>G (p.Met531Arg) c.1700T>G (p.Met567Arg) | |
8 | g.93923597T= | CA1803281012 | PDP1 | c.1538T= (p.Met513=) c.1613T= (p.Met538=) c.1592T= (p.Met531=) c.1700T= (p.Met567=) | |
8 | g.93923598G>A | CA371697901 | PDP1 | c.1539G>A (p.Met513Ile) c.1614G>A (p.Met538Ile) c.1593G>A (p.Met531Ile) c.1701G>A (p.Met567Ile) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923598G>C | CA371697903 | PDP1 | c.1539G>C (p.Met513Ile) c.1614G>C (p.Met538Ile) c.1593G>C (p.Met531Ile) c.1701G>C (p.Met567Ile) | |
8 | g.93923598G= | CA1803281013 | PDP1 | c.1539G= (p.Met513=) c.1614G= (p.Met538=) c.1593G= (p.Met531=) c.1701G= (p.Met567=) | |
8 | g.93923598G>T | CA371697906 | PDP1 | c.1539G>T (p.Met513Ile) c.1614G>T (p.Met538Ile) c.1593G>T (p.Met531Ile) c.1701G>T (p.Met567Ile) | gnomAD v4 |
8 | g.93923599T>A | CA371697908 | PDP1 | c.1540T>A (p.Tyr514Asn) c.1615T>A (p.Tyr539Asn) c.1594T>A (p.Tyr532Asn) c.1702T>A (p.Tyr568Asn) | |
8 | g.93923599T>C | CA371697910 | PDP1 | c.1540T>C (p.Tyr514His) c.1615T>C (p.Tyr539His) c.1594T>C (p.Tyr532His) c.1702T>C (p.Tyr568His) | |
8 | g.93923599T>G | CA371697912 | PDP1 | c.1540T>G (p.Tyr514Asp) c.1615T>G (p.Tyr539Asp) c.1594T>G (p.Tyr532Asp) c.1702T>G (p.Tyr568Asp) | |
8 | g.93923600A>C | CA371697916 | PDP1 | c.1541A>C (p.Tyr514Ser) c.1616A>C (p.Tyr539Ser) c.1595A>C (p.Tyr532Ser) c.1703A>C (p.Tyr568Ser) | |
8 | g.93923600A>G | CA371697917 | PDP1 | c.1541A>G (p.Tyr514Cys) c.1616A>G (p.Tyr539Cys) c.1595A>G (p.Tyr532Cys) c.1703A>G (p.Tyr568Cys) | gnomAD v4 |
8 | g.93923600A>T | CA371697921 | PDP1 | c.1541A>T (p.Tyr514Phe) c.1616A>T (p.Tyr539Phe) c.1595A>T (p.Tyr532Phe) c.1703A>T (p.Tyr568Phe) | gnomAD v4 |
8 | g.93923601_93923602del | CA2687927880 | PDP1 | c.1542_1543del (p.Tyr514Ter) c.1617_1618del (p.Tyr539Ter) c.1596_1597del (p.Tyr532Ter) c.1704_1705del (p.Tyr568Ter) | gnomAD v4 |
8 | g.93923601C>A | CA371697924 | PDP1 | c.1542C>A (p.Tyr514Ter) c.1617C>A (p.Tyr539Ter) c.1596C>A (p.Tyr532Ter) c.1704C>A (p.Tyr568Ter) | dbSNP |
8 | g.93923601C= | CA1803281014 | PDP1 | c.1542C= (p.Tyr514=) c.1617C= (p.Tyr539=) c.1596C= (p.Tyr532=) c.1704C= (p.Tyr568=) | |
8 | g.93923601C>G | CA371697926 | PDP1 | c.1542C>G (p.Tyr514Ter) c.1617C>G (p.Tyr539Ter) c.1596C>G (p.Tyr532Ter) c.1704C>G (p.Tyr568Ter) | |
8 | g.93923601C>T | CA462118346 | PDP1 | c.1542C>T (p.Tyr514=) c.1617C>T (p.Tyr539=) c.1596C>T (p.Tyr532=) c.1704C>T (p.Tyr568=) | gnomAD v4 |
8 | g.93923602A>C | CA462118347 | PDP1 | c.1543A>C (p.Arg515=) c.1618A>C (p.Arg540=) c.1597A>C (p.Arg533=) c.1705A>C (p.Arg569=) | |
8 | g.93923602A>G | CA371697930 | PDP1 | c.1543A>G (p.Arg515Gly) c.1618A>G (p.Arg540Gly) c.1597A>G (p.Arg533Gly) c.1705A>G (p.Arg569Gly) | gnomAD v4 |
8 | g.93923602A>T | CA371697932 | PDP1 | c.1543A>T (p.Arg515Ter) c.1618A>T (p.Arg540Ter) c.1597A>T (p.Arg533Ter) c.1705A>T (p.Arg569Ter) | |
8 | g.93923603G>A | CA371697935 | PDP1 | c.1544G>A (p.Arg515Lys) c.1619G>A (p.Arg540Lys) c.1598G>A (p.Arg533Lys) c.1706G>A (p.Arg569Lys) | gnomAD v4 |
8 | g.93923603G>C | CA371697940 | PDP1 | c.1544G>C (p.Arg515Thr) c.1619G>C (p.Arg540Thr) c.1598G>C (p.Arg533Thr) c.1706G>C (p.Arg569Thr) | |
8 | g.93923603G>T | CA371697937 | PDP1 | c.1544G>T (p.Arg515Ile) c.1619G>T (p.Arg540Ile) c.1598G>T (p.Arg533Ile) c.1706G>T (p.Arg569Ile) | |
8 | g.93923604A= | CA1803281015 | PDP1 | c.1545A= (p.Arg515=) c.1620A= (p.Arg540=) c.1599A= (p.Arg533=) c.1707A= (p.Arg569=) | |
8 | g.93923604A>C | CA371697942 | PDP1 | c.1545A>C (p.Arg515Ser) c.1620A>C (p.Arg540Ser) c.1599A>C (p.Arg533Ser) c.1707A>C (p.Arg569Ser) | |
8 | g.93923604A>G | CA4808846 | PDP1 | c.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 |
8 | g.93923604A>T | CA371697944 | PDP1 | c.1545A>T (p.Arg515Ser) c.1620A>T (p.Arg540Ser) c.1599A>T (p.Arg533Ser) c.1707A>T (p.Arg569Ser) | |
8 | g.93923605G>A | CA371697948 | PDP1 | c.1546G>A (p.Asp516Asn) c.1621G>A (p.Asp541Asn) c.1600G>A (p.Asp534Asn) c.1708G>A (p.Asp570Asn) | |
8 | g.93923605G>C | CA371697950 | PDP1 | c.1546G>C (p.Asp516His) c.1621G>C (p.Asp541His) c.1600G>C (p.Asp534His) c.1708G>C (p.Asp570His) | |
8 | g.93923605G>T | CA371697953 | PDP1 | c.1546G>T (p.Asp516Tyr) c.1621G>T (p.Asp541Tyr) c.1600G>T (p.Asp534Tyr) c.1708G>T (p.Asp570Tyr) | |
8 | g.93923606A>C | CA371697955 | PDP1 | c.1547A>C (p.Asp516Ala) c.1622A>C (p.Asp541Ala) c.1601A>C (p.Asp534Ala) c.1709A>C (p.Asp570Ala) | |
8 | g.93923606A>G | CA371697956 | PDP1 | c.1547A>G (p.Asp516Gly) c.1622A>G (p.Asp541Gly) c.1601A>G (p.Asp534Gly) c.1709A>G (p.Asp570Gly) | |
8 | g.93923606A>T | CA371697960 | PDP1 | c.1547A>T (p.Asp516Val) c.1622A>T (p.Asp541Val) c.1601A>T (p.Asp534Val) c.1709A>T (p.Asp570Val) | |
8 | g.93923607T>A | CA371697963 | PDP1 | c.1548T>A (p.Asp516Glu) c.1623T>A (p.Asp541Glu) c.1602T>A (p.Asp534Glu) c.1710T>A (p.Asp570Glu) | |
8 | g.93923607T>C | CA462118351 | PDP1 | c.1548T>C (p.Asp516=) c.1623T>C (p.Asp541=) c.1602T>C (p.Asp534=) c.1710T>C (p.Asp570=) | |
8 | g.93923607T>G | CA371697965 | PDP1 | c.1548T>G (p.Asp516Glu) c.1623T>G (p.Asp541Glu) c.1602T>G (p.Asp534Glu) c.1710T>G (p.Asp570Glu) | |
8 | g.93923608G>A | CA371697971 | PDP1 | c.1549G>A (p.Asp517Asn) c.1624G>A (p.Asp542Asn) c.1603G>A (p.Asp535Asn) c.1711G>A (p.Asp571Asn) | |
8 | g.93923608G>C | CA371697970 | PDP1 | c.1549G>C (p.Asp517His) c.1624G>C (p.Asp542His) c.1603G>C (p.Asp535His) c.1711G>C (p.Asp571His) | |
8 | g.93923608G>T | CA371697968 | PDP1 | c.1549G>T (p.Asp517Tyr) c.1624G>T (p.Asp542Tyr) c.1603G>T (p.Asp535Tyr) c.1711G>T (p.Asp571Tyr) | |
8 | g.93923609A>C | CA371697972 | PDP1 | c.1550A>C (p.Asp517Ala) c.1625A>C (p.Asp542Ala) c.1604A>C (p.Asp535Ala) c.1712A>C (p.Asp571Ala) | |
8 | g.93923609A>G | CA371697973 | PDP1 | c.1550A>G (p.Asp517Gly) c.1625A>G (p.Asp542Gly) c.1604A>G (p.Asp535Gly) c.1712A>G (p.Asp571Gly) | |
8 | g.93923609A>T | CA371697974 | PDP1 | c.1550A>T (p.Asp517Val) c.1625A>T (p.Asp542Val) c.1604A>T (p.Asp535Val) c.1712A>T (p.Asp571Val) | |
8 | g.93923610C>A | CA371697975 | PDP1 | c.1551C>A (p.Asp517Glu) c.1626C>A (p.Asp542Glu) c.1605C>A (p.Asp535Glu) c.1713C>A (p.Asp571Glu) | |
8 | g.93923610C= | CA1803281016 | PDP1 | c.1551C= (p.Asp517=) c.1626C= (p.Asp542=) c.1605C= (p.Asp535=) c.1713C= (p.Asp571=) | |
8 | g.93923610C>G | CA371697977 | PDP1 | c.1551C>G (p.Asp517Glu) c.1626C>G (p.Asp542Glu) c.1605C>G (p.Asp535Glu) c.1713C>G (p.Asp571Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923610C>T | CA462118355 | PDP1 | c.1551C>T (p.Asp517=) c.1626C>T (p.Asp542=) c.1605C>T (p.Asp535=) c.1713C>T (p.Asp571=) | gnomAD v4 |
8 | g.93923611A= | CA1803281017 | PDP1 | c.1552A= (p.Ile518=) c.1627A= (p.Ile543=) c.1606A= (p.Ile536=) c.1714A= (p.Ile572=) | |
8 | g.93923611A>C | CA371697978 | PDP1 | c.1552A>C (p.Ile518Leu) c.1627A>C (p.Ile543Leu) c.1606A>C (p.Ile536Leu) c.1714A>C (p.Ile572Leu) | dbSNP |
8 | g.93923611A>G | CA181376433 | PDP1 | c.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 |
8 | g.93923611A>T | CA371697979 | PDP1 | c.1552A>T (p.Ile518Phe) c.1627A>T (p.Ile543Phe) c.1606A>T (p.Ile536Phe) c.1714A>T (p.Ile572Phe) | |
8 | g.93923612T>A | CA371697982 | PDP1 | c.1553T>A (p.Ile518Asn) c.1628T>A (p.Ile543Asn) c.1607T>A (p.Ile536Asn) c.1715T>A (p.Ile572Asn) | |
8 | g.93923612T>C | CA181376439 | PDP1 | c.1553T>C (p.Ile518Thr) c.1628T>C (p.Ile543Thr) c.1607T>C (p.Ile536Thr) c.1715T>C (p.Ile572Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923612T>G | CA371697986 | PDP1 | c.1553T>G (p.Ile518Ser) c.1628T>G (p.Ile543Ser) c.1607T>G (p.Ile536Ser) c.1715T>G (p.Ile572Ser) | COSMIC |
8 | g.93923612T= | CA1803281018 | PDP1 | c.1553T= (p.Ile518=) c.1628T= (p.Ile543=) c.1607T= (p.Ile536=) c.1715T= (p.Ile572=) | |
8 | g.93923613T>A | CA462118357 | PDP1 | c.1554T>A (p.Ile518=) c.1629T>A (p.Ile543=) c.1608T>A (p.Ile536=) c.1716T>A (p.Ile572=) | |
8 | g.93923613T>C | CA462118358 | PDP1 | c.1554T>C (p.Ile518=) c.1629T>C (p.Ile543=) c.1608T>C (p.Ile536=) c.1716T>C (p.Ile572=) | |
8 | g.93923613T>G | CA371697990 | PDP1 | c.1554T>G (p.Ile518Met) c.1629T>G (p.Ile543Met) c.1608T>G (p.Ile536Met) c.1716T>G (p.Ile572Met) | |
8 | g.93923614A>C | CA371697994 | PDP1 | c.1555A>C (p.Thr519Pro) c.1630A>C (p.Thr544Pro) c.1609A>C (p.Thr537Pro) c.1717A>C (p.Thr573Pro) | |
8 | g.93923614A>G | CA371697997 | PDP1 | c.1555A>G (p.Thr519Ala) c.1630A>G (p.Thr544Ala) c.1609A>G (p.Thr537Ala) c.1717A>G (p.Thr573Ala) | gnomAD v4 |
8 | g.93923614A>T | CA371697995 | PDP1 | c.1555A>T (p.Thr519Ser) c.1630A>T (p.Thr544Ser) c.1609A>T (p.Thr537Ser) c.1717A>T (p.Thr573Ser) | |
8 | g.93923615C>A | CA371697999 | PDP1 | c.1556C>A (p.Thr519Lys) c.1631C>A (p.Thr544Lys) c.1610C>A (p.Thr537Lys) c.1718C>A (p.Thr573Lys) | |
8 | g.93923615C>G | CA371698004 | PDP1 | c.1556C>G (p.Thr519Arg) c.1631C>G (p.Thr544Arg) c.1610C>G (p.Thr537Arg) c.1718C>G (p.Thr573Arg) | |
8 | g.93923615C>T | CA371698001 | PDP1 | c.1556C>T (p.Thr519Ile) c.1631C>T (p.Thr544Ile) c.1610C>T (p.Thr537Ile) c.1718C>T (p.Thr573Ile) | |
8 | g.93923616A>C | CA462118362 | PDP1 | c.1557A>C (p.Thr519=) c.1632A>C (p.Thr544=) c.1611A>C (p.Thr537=) c.1719A>C (p.Thr573=) | |
8 | g.93923616A>G | CA462118363 | PDP1 | c.1557A>G (p.Thr519=) c.1632A>G (p.Thr544=) c.1611A>G (p.Thr537=) c.1719A>G (p.Thr573=) | |
8 | g.93923616A>T | CA462118364 | PDP1 | c.1557A>T (p.Thr519=) c.1632A>T (p.Thr544=) c.1611A>T (p.Thr537=) c.1719A>T (p.Thr573=) | |
8 | g.93923617A= | CA1803281019 | PDP1 | c.1558A= (p.Ile520=) c.1633A= (p.Ile545=) c.1612A= (p.Ile538=) c.1720A= (p.Ile574=) | |
8 | g.93923617A>C | CA371698007 | PDP1 | c.1558A>C (p.Ile520Leu) c.1633A>C (p.Ile545Leu) c.1612A>C (p.Ile538Leu) c.1720A>C (p.Ile574Leu) | |
8 | g.93923617A>G | CA4808847 | PDP1 | c.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 |
8 | g.93923617A>T | CA371698011 | PDP1 | c.1558A>T (p.Ile520Phe) c.1633A>T (p.Ile545Phe) c.1612A>T (p.Ile538Phe) c.1720A>T (p.Ile574Phe) | |
8 | g.93923618T>A | CA371698012 | PDP1 | c.1559T>A (p.Ile520Asn) c.1634T>A (p.Ile545Asn) c.1613T>A (p.Ile538Asn) c.1721T>A (p.Ile574Asn) | |
8 | g.93923618T>C | CA371698015 | PDP1 | c.1559T>C (p.Ile520Thr) c.1634T>C (p.Ile545Thr) c.1613T>C (p.Ile538Thr) c.1721T>C (p.Ile574Thr) | |
8 | g.93923618T>G | CA371698018 | PDP1 | c.1559T>G (p.Ile520Ser) c.1634T>G (p.Ile545Ser) c.1613T>G (p.Ile538Ser) c.1721T>G (p.Ile574Ser) | |
8 | g.93923619C>A | CA462118367 | PDP1 | c.1560C>A (p.Ile520=) c.1635C>A (p.Ile545=) c.1614C>A (p.Ile538=) c.1722C>A (p.Ile574=) | |
8 | g.93923619C>G | CA371698020 | PDP1 | c.1560C>G (p.Ile520Met) c.1635C>G (p.Ile545Met) c.1614C>G (p.Ile538Met) c.1722C>G (p.Ile574Met) | |
8 | g.93923619C>T | CA462118368 | PDP1 | c.1560C>T (p.Ile520=) c.1635C>T (p.Ile545=) c.1614C>T (p.Ile538=) c.1722C>T (p.Ile574=) | |
8 | g.93923620A>C | CA371698022 | PDP1 | c.1561A>C (p.Ile521Leu) c.1636A>C (p.Ile546Leu) c.1615A>C (p.Ile539Leu) c.1723A>C (p.Ile575Leu) | |
8 | g.93923620A>G | CA371698025 | PDP1 | c.1561A>G (p.Ile521Val) c.1636A>G (p.Ile546Val) c.1615A>G (p.Ile539Val) c.1723A>G (p.Ile575Val) | gnomAD v4 |
8 | g.93923620A>T | CA371698028 | PDP1 | c.1561A>T (p.Ile521Phe) c.1636A>T (p.Ile546Phe) c.1615A>T (p.Ile539Phe) c.1723A>T (p.Ile575Phe) | gnomAD v4 |
8 | g.93923621T>A | CA371698032 | PDP1 | c.1562T>A (p.Ile521Asn) c.1637T>A (p.Ile546Asn) c.1616T>A (p.Ile539Asn) c.1724T>A (p.Ile575Asn) | |
8 | g.93923621T>C | CA371698034 | PDP1 | c.1562T>C (p.Ile521Thr) c.1637T>C (p.Ile546Thr) c.1616T>C (p.Ile539Thr) c.1724T>C (p.Ile575Thr) | |
8 | g.93923621T>G | CA371698036 | PDP1 | c.1562T>G (p.Ile521Ser) c.1637T>G (p.Ile546Ser) c.1616T>G (p.Ile539Ser) c.1724T>G (p.Ile575Ser) | |
8 | g.93923622T>A | CA462118370 | PDP1 | c.1563T>A (p.Ile521=) c.1638T>A (p.Ile546=) c.1617T>A (p.Ile539=) c.1725T>A (p.Ile575=) | |
8 | g.93923622T>C | CA462118371 | PDP1 | c.1563T>C (p.Ile521=) c.1638T>C (p.Ile546=) c.1617T>C (p.Ile539=) c.1725T>C (p.Ile575=) | |
8 | g.93923622T>G | CA371698038 | PDP1 | c.1563T>G (p.Ile521Met) c.1638T>G (p.Ile546Met) c.1617T>G (p.Ile539Met) c.1725T>G (p.Ile575Met) | |
8 | g.93923623G>A | CA371698041 | PDP1 | c.1564G>A (p.Val522Ile) c.1639G>A (p.Val547Ile) c.1618G>A (p.Val540Ile) c.1726G>A (p.Val576Ile) | |
8 | g.93923623G>C | CA371698044 | PDP1 | c.1564G>C (p.Val522Leu) c.1639G>C (p.Val547Leu) c.1618G>C (p.Val540Leu) c.1726G>C (p.Val576Leu) | |
8 | g.93923623G>T | CA371698047 | PDP1 | c.1564G>T (p.Val522Leu) c.1639G>T (p.Val547Leu) c.1618G>T (p.Val540Leu) c.1726G>T (p.Val576Leu) | |
8 | g.93923624T>A | CA371698050 | PDP1 | c.1565T>A (p.Val522Glu) c.1640T>A (p.Val547Glu) c.1619T>A (p.Val540Glu) c.1727T>A (p.Val576Glu) | |
8 | g.93923624T>C | CA371698052 | PDP1 | c.1565T>C (p.Val522Ala) c.1640T>C (p.Val547Ala) c.1619T>C (p.Val540Ala) c.1727T>C (p.Val576Ala) | |
8 | g.93923624T>G | CA371698055 | PDP1 | c.1565T>G (p.Val522Gly) c.1640T>G (p.Val547Gly) c.1619T>G (p.Val540Gly) c.1727T>G (p.Val576Gly) | |
8 | g.93923625A>C | CA462118372 | PDP1 | c.1566A>C (p.Val522=) c.1641A>C (p.Val547=) c.1620A>C (p.Val540=) c.1728A>C (p.Val576=) | |
8 | g.93923625A>G | CA462118373 | PDP1 | c.1566A>G (p.Val522=) c.1641A>G (p.Val547=) c.1620A>G (p.Val540=) c.1728A>G (p.Val576=) | |
8 | g.93923625A>T | CA462118374 | PDP1 | c.1566A>T (p.Val522=) c.1641A>T (p.Val547=) c.1620A>T (p.Val540=) c.1728A>T (p.Val576=) | |
8 | g.93923626G>A | CA371698058 | PDP1 | c.1567G>A (p.Val523Ile) c.1642G>A (p.Val548Ile) c.1621G>A (p.Val541Ile) c.1729G>A (p.Val577Ile) | |
8 | g.93923626G>C | CA4808848 | PDP1 | c.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 |
8 | g.93923626G= | CA1803281020 | PDP1 | c.1567G= (p.Val523=) c.1642G= (p.Val548=) c.1621G= (p.Val541=) c.1729G= (p.Val577=) | |
8 | g.93923626G>T | CA371698061 | PDP1 | c.1567G>T (p.Val523Phe) c.1642G>T (p.Val548Phe) c.1621G>T (p.Val541Phe) c.1729G>T (p.Val577Phe) | |
8 | g.93923627T>A | CA371698063 | PDP1 | c.1568T>A (p.Val523Asp) c.1643T>A (p.Val548Asp) c.1622T>A (p.Val541Asp) c.1730T>A (p.Val577Asp) | |
8 | g.93923627T>C | CA371698065 | PDP1 | c.1568T>C (p.Val523Ala) c.1643T>C (p.Val548Ala) c.1622T>C (p.Val541Ala) c.1730T>C (p.Val577Ala) | |
8 | g.93923627T>G | CA371698068 | PDP1 | c.1568T>G (p.Val523Gly) c.1643T>G (p.Val548Gly) c.1622T>G (p.Val541Gly) c.1730T>G (p.Val577Gly) | |
8 | g.93923628T>A | CA462118377 | PDP1 | c.1569T>A (p.Val523=) c.1644T>A (p.Val548=) c.1623T>A (p.Val541=) c.1731T>A (p.Val577=) | |
8 | g.93923628T>C | CA462118378 | PDP1 | c.1569T>C (p.Val523=) c.1644T>C (p.Val548=) c.1623T>C (p.Val541=) c.1731T>C (p.Val577=) | |
8 | g.93923628T>G | CA462118379 | PDP1 | c.1569T>G (p.Val523=) c.1644T>G (p.Val548=) c.1623T>G (p.Val541=) c.1731T>G (p.Val577=) | dbSNP |
8 | g.93923628T= | CA1803281021 | PDP1 | c.1569T= (p.Val523=) c.1644T= (p.Val548=) c.1623T= (p.Val541=) c.1731T= (p.Val577=) | |
8 | g.93923629C>A | CA371698073 | PDP1 | c.1570C>A (p.Gln524Lys) c.1645C>A (p.Gln549Lys) c.1624C>A (p.Gln542Lys) c.1732C>A (p.Gln578Lys) | gnomAD v4 |
8 | g.93923629C= | CA1803281022 | PDP1 | c.1570C= (p.Gln524=) c.1645C= (p.Gln549=) c.1624C= (p.Gln542=) c.1732C= (p.Gln578=) | |
8 | g.93923629C>G | CA4808849 | PDP1 | c.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 |
8 | g.93923629C>T | CA371698071 | PDP1 | c.1570C>T (p.Gln524Ter) c.1645C>T (p.Gln549Ter) c.1624C>T (p.Gln542Ter) c.1732C>T (p.Gln578Ter) | gnomAD v4 |
8 | g.93923630A>C | CA371698076 | PDP1 | c.1571A>C (p.Gln524Pro) c.1646A>C (p.Gln549Pro) c.1625A>C (p.Gln542Pro) c.1733A>C (p.Gln578Pro) | |
8 | g.93923630A>G | CA371698077 | PDP1 | c.1571A>G (p.Gln524Arg) c.1646A>G (p.Gln549Arg) c.1625A>G (p.Gln542Arg) c.1733A>G (p.Gln578Arg) | |
8 | g.93923630A>T | CA371698081 | PDP1 | c.1571A>T (p.Gln524Leu) c.1646A>T (p.Gln549Leu) c.1625A>T (p.Gln542Leu) c.1733A>T (p.Gln578Leu) | |
8 | g.93923631G>A | CA462118381 | PDP1 | c.1572G>A (p.Gln524=) c.1647G>A (p.Gln549=) c.1626G>A (p.Gln542=) c.1734G>A (p.Gln578=) | |
8 | g.93923631G>C | CA371698084 | PDP1 | c.1572G>C (p.Gln524His) c.1647G>C (p.Gln549His) c.1626G>C (p.Gln542His) c.1734G>C (p.Gln578His) | |
8 | g.93923631G>T | CA371698086 | PDP1 | c.1572G>T (p.Gln524His) c.1647G>T (p.Gln549His) c.1626G>T (p.Gln542His) c.1734G>T (p.Gln578His) | |
8 | g.93923632T>A | CA371698089 | PDP1 | c.1573T>A (p.Phe525Ile) c.1648T>A (p.Phe550Ile) c.1627T>A (p.Phe543Ile) c.1735T>A (p.Phe579Ile) | |
8 | g.93923632T>C | CA371698091 | PDP1 | c.1573T>C (p.Phe525Leu) c.1648T>C (p.Phe550Leu) c.1627T>C (p.Phe543Leu) c.1735T>C (p.Phe579Leu) | |
8 | g.93923632T>G | CA371698093 | PDP1 | c.1573T>G (p.Phe525Val) c.1648T>G (p.Phe550Val) c.1627T>G (p.Phe543Val) c.1735T>G (p.Phe579Val) | |
8 | g.93923633T>A | CA371698097 | PDP1 | c.1574T>A (p.Phe525Tyr) c.1649T>A (p.Phe550Tyr) c.1628T>A (p.Phe543Tyr) c.1736T>A (p.Phe579Tyr) | |
8 | g.93923633T>C | CA371698103 | PDP1 | c.1574T>C (p.Phe525Ser) c.1649T>C (p.Phe550Ser) c.1628T>C (p.Phe543Ser) c.1736T>C (p.Phe579Ser) | |
8 | g.93923633T>G | CA371698105 | PDP1 | c.1574T>G (p.Phe525Cys) c.1649T>G (p.Phe550Cys) c.1628T>G (p.Phe543Cys) c.1736T>G (p.Phe579Cys) | |
8 | g.93923634C>A | CA371698107 | PDP1 | c.1575C>A (p.Phe525Leu) c.1650C>A (p.Phe550Leu) c.1629C>A (p.Phe543Leu) c.1737C>A (p.Phe579Leu) | gnomAD v4 |
8 | g.93923634C>G | CA371698110 | PDP1 | c.1575C>G (p.Phe525Leu) c.1650C>G (p.Phe550Leu) c.1629C>G (p.Phe543Leu) c.1737C>G (p.Phe579Leu) | |
8 | g.93923634C>T | CA462118383 | PDP1 | c.1575C>T (p.Phe525=) c.1650C>T (p.Phe550=) c.1629C>T (p.Phe543=) c.1737C>T (p.Phe579=) | |
8 | g.93923635A>C | CA371698116 | PDP1 | c.1576A>C (p.Asn526His) c.1651A>C (p.Asn551His) c.1630A>C (p.Asn544His) c.1738A>C (p.Asn580His) | gnomAD v4 |
8 | g.93923635A>G | CA371698113 | PDP1 | c.1576A>G (p.Asn526Asp) c.1651A>G (p.Asn551Asp) c.1630A>G (p.Asn544Asp) c.1738A>G (p.Asn580Asp) | |
8 | g.93923635A>T | CA371698115 | PDP1 | c.1576A>T (p.Asn526Tyr) c.1651A>T (p.Asn551Tyr) c.1630A>T (p.Asn544Tyr) c.1738A>T (p.Asn580Tyr) | |
8 | g.93923636A= | CA1803281023 | PDP1 | c.1577A= (p.Asn526=) c.1652A= (p.Asn551=) c.1631A= (p.Asn544=) c.1739A= (p.Asn580=) | |
8 | g.93923636A>C | CA371698119 | PDP1 | c.1577A>C (p.Asn526Thr) c.1652A>C (p.Asn551Thr) c.1631A>C (p.Asn544Thr) c.1739A>C (p.Asn580Thr) | |
8 | g.93923636A>G | CA4808850 | PDP1 | c.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 |
8 | g.93923636A>T | CA371698123 | PDP1 | c.1577A>T (p.Asn526Ile) c.1652A>T (p.Asn551Ile) c.1631A>T (p.Asn544Ile) c.1739A>T (p.Asn580Ile) | |
8 | g.93923637T>A | CA371698126 | PDP1 | c.1578T>A (p.Asn526Lys) c.1653T>A (p.Asn551Lys) c.1632T>A (p.Asn544Lys) c.1740T>A (p.Asn580Lys) | |
8 | g.93923637T>C | CA462118386 | PDP1 | c.1578T>C (p.Asn526=) c.1653T>C (p.Asn551=) c.1632T>C (p.Asn544=) c.1740T>C (p.Asn580=) | |
8 | g.93923637T>G | CA371698129 | PDP1 | c.1578T>G (p.Asn526Lys) c.1653T>G (p.Asn551Lys) c.1632T>G (p.Asn544Lys) c.1740T>G (p.Asn580Lys) | gnomAD v4 |
8 | g.93923638T>A | CA371698131 | PDP1 | c.1579T>A (p.Ser527Thr) c.1654T>A (p.Ser552Thr) c.1633T>A (p.Ser545Thr) c.1741T>A (p.Ser581Thr) | |
8 | g.93923638T>C | CA4808851 | PDP1 | c.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 |
8 | g.93923638T>G | CA371698134 | PDP1 | c.1579T>G (p.Ser527Ala) c.1654T>G (p.Ser552Ala) c.1633T>G (p.Ser545Ala) c.1741T>G (p.Ser581Ala) | |
8 | g.93923638T= | CA1803281024 | PDP1 | c.1579T= (p.Ser527=) c.1654T= (p.Ser552=) c.1633T= (p.Ser545=) c.1741T= (p.Ser581=) | |
8 | g.93923639C>A | CA371698136 | PDP1 | c.1580C>A (p.Ser527Tyr) c.1655C>A (p.Ser552Tyr) c.1634C>A (p.Ser545Tyr) c.1742C>A (p.Ser581Tyr) | COSMIC COSMIC |
8 | g.93923639C>G | CA371698137 | PDP1 | c.1580C>G (p.Ser527Cys) c.1655C>G (p.Ser552Cys) c.1634C>G (p.Ser545Cys) c.1742C>G (p.Ser581Cys) | |
8 | g.93923639C>T | CA371698140 | PDP1 | c.1580C>T (p.Ser527Phe) c.1655C>T (p.Ser552Phe) c.1634C>T (p.Ser545Phe) c.1742C>T (p.Ser581Phe) | |
8 | g.93923640T>A | CA462118392 | PDP1 | c.1581T>A (p.Ser527=) c.1656T>A (p.Ser552=) c.1635T>A (p.Ser545=) c.1743T>A (p.Ser581=) | |
8 | g.93923640T>C | CA462118393 | PDP1 | c.1581T>C (p.Ser527=) c.1656T>C (p.Ser552=) c.1635T>C (p.Ser545=) c.1743T>C (p.Ser581=) | |
8 | g.93923640T>G | CA462118394 | PDP1 | c.1581T>G (p.Ser527=) c.1656T>G (p.Ser552=) c.1635T>G (p.Ser545=) c.1743T>G (p.Ser581=) | |
8 | g.93923641C>A | CA371698142 | PDP1 | c.1582C>A (p.His528Asn) c.1657C>A (p.His553Asn) c.1636C>A (p.His546Asn) c.1744C>A (p.His582Asn) | |
8 | g.93923641C= | CA1803281026 | PDP1 | c.1582C= (p.His528=) c.1657C= (p.His553=) c.1636C= (p.His546=) c.1744C= (p.His582=) | |
8 | g.93923641C>G | CA371698147 | PDP1 | c.1582C>G (p.His528Asp) c.1657C>G (p.His553Asp) c.1636C>G (p.His546Asp) c.1744C>G (p.His582Asp) | dbSNP |
8 | g.93923641C>T | CA371698144 | PDP1 | c.1582C>T (p.His528Tyr) c.1657C>T (p.His553Tyr) c.1636C>T (p.His546Tyr) c.1744C>T (p.His582Tyr) | gnomAD v4 |
8 | g.93923641_93923643delinsCAT | CA1803281025 | PDP1 | c.1582_1584delinsCAT (p.His528=) c.1657_1659delinsCAT (p.His553=) c.1636_1638delinsCAT (p.His546=) c.1744_1746delinsCAT (p.His582=) | |
8 | g.93923642A>C | CA371698149 | PDP1 | c.1583A>C (p.His528Pro) c.1658A>C (p.His553Pro) c.1637A>C (p.His546Pro) c.1745A>C (p.His582Pro) | |
8 | g.93923642A>G | CA371698155 | PDP1 | c.1583A>G (p.His528Arg) c.1658A>G (p.His553Arg) c.1637A>G (p.His546Arg) c.1745A>G (p.His582Arg) | |
8 | g.93923642A>T | CA371698152 | PDP1 | c.1583A>T (p.His528Leu) c.1658A>T (p.His553Leu) c.1637A>T (p.His546Leu) c.1745A>T (p.His582Leu) | |
8 | g.93923642_93923643del | CA583844367 | PDP1 | c.1583_1584del (p.His528ArgfsTer25) c.1658_1659del (p.His553ArgfsTer25) c.1637_1638del (p.His546ArgfsTer25) c.1745_1746del (p.His582ArgfsTer25) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923642_93923645delinsATGT | CA1803281027 | PDP1 | c.1583_1586delinsATGT (p.His528=) c.1658_1661delinsATGT (p.His553=) c.1637_1640delinsATGT (p.His546=) c.1745_1748delinsATGT (p.His582=) | |
8 | g.93923643T>A | CA371698157 | PDP1 | c.1584T>A (p.His528Gln) c.1659T>A (p.His553Gln) c.1638T>A (p.His546Gln) c.1746T>A (p.His582Gln) | |
8 | g.93923643T>C | CA462118397 | PDP1 | c.1584T>C (p.His528=) c.1659T>C (p.His553=) c.1638T>C (p.His546=) c.1746T>C (p.His582=) | |
8 | g.93923643T>G | CA371698159 | PDP1 | c.1584T>G (p.His528Gln) c.1659T>G (p.His553Gln) c.1638T>G (p.His546Gln) c.1746T>G (p.His582Gln) | |
8 | g.93923646_93923648del | CA1803281028 | PDP1 | c.1587_1589del (p.Val530del) c.1662_1664del (p.Val555del) c.1641_1643del (p.Val548del) c.1749_1751del (p.Val584del) | dbSNP |
8 | g.93923644G>A | CA371698162 | PDP1 | c.1585G>A (p.Val529Ile) c.1660G>A (p.Val554Ile) c.1639G>A (p.Val547Ile) c.1747G>A (p.Val583Ile) | dbSNP gnomAD v4 |
8 | g.93923644G>C | CA371698165 | PDP1 | c.1585G>C (p.Val529Leu) c.1660G>C (p.Val554Leu) c.1639G>C (p.Val547Leu) c.1747G>C (p.Val583Leu) | |
8 | g.93923644G= | CA1803281029 | PDP1 | c.1585G= (p.Val529=) c.1660G= (p.Val554=) c.1639G= (p.Val547=) c.1747G= (p.Val583=) | |
8 | g.93923644G>T | CA4808852 | PDP1 | c.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 |
8 | g.93923645T>A | CA371698169 | PDP1 | c.1586T>A (p.Val529Asp) c.1661T>A (p.Val554Asp) c.1640T>A (p.Val547Asp) c.1748T>A (p.Val583Asp) | |
8 | g.93923645T>C | CA371698171 | PDP1 | c.1586T>C (p.Val529Ala) c.1661T>C (p.Val554Ala) c.1640T>C (p.Val547Ala) c.1748T>C (p.Val583Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923645T>G | CA371698175 | PDP1 | c.1586T>G (p.Val529Gly) c.1661T>G (p.Val554Gly) c.1640T>G (p.Val547Gly) c.1748T>G (p.Val583Gly) | |
8 | g.93923645T= | CA1803281030 | PDP1 | c.1586T= (p.Val529=) c.1661T= (p.Val554=) c.1640T= (p.Val547=) c.1748T= (p.Val583=) | |
8 | g.93923646T>A | CA462118399 | PDP1 | c.1587T>A (p.Val529=) c.1662T>A (p.Val554=) c.1641T>A (p.Val547=) c.1749T>A (p.Val583=) | |
8 | g.93923646T>C | CA462118400 | PDP1 | c.1587T>C (p.Val529=) c.1662T>C (p.Val554=) c.1641T>C (p.Val547=) c.1749T>C (p.Val583=) | |
8 | g.93923646T>G | CA462118401 | PDP1 | c.1587T>G (p.Val529=) c.1662T>G (p.Val554=) c.1641T>G (p.Val547=) c.1749T>G (p.Val583=) | |
8 | g.93923647G>A | CA4808853 | PDP1 | c.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 |
8 | g.93923647G>C | CA371698180 | PDP1 | c.1588G>C (p.Val530Leu) c.1663G>C (p.Val555Leu) c.1642G>C (p.Val548Leu) c.1750G>C (p.Val584Leu) | |
8 | g.93923647G= | CA1803281031 | PDP1 | c.1588G= (p.Val530=) c.1663G= (p.Val555=) c.1642G= (p.Val548=) c.1750G= (p.Val584=) | |
8 | g.93923647G>T | CA371698182 | PDP1 | c.1588G>T (p.Val530Leu) c.1663G>T (p.Val555Leu) c.1642G>T (p.Val548Leu) c.1750G>T (p.Val584Leu) | |
8 | g.93923648T>A | CA371698185 | PDP1 | c.1589T>A (p.Val530Glu) c.1664T>A (p.Val555Glu) c.1643T>A (p.Val548Glu) c.1751T>A (p.Val584Glu) | |
8 | g.93923648T>C | CA371698186 | PDP1 | c.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 |
8 | g.93923648T>G | CA371698189 | PDP1 | c.1589T>G (p.Val530Gly) c.1664T>G (p.Val555Gly) c.1643T>G (p.Val548Gly) c.1751T>G (p.Val584Gly) | |
8 | g.93923648T= | CA1803281032 | PDP1 | c.1589T= (p.Val530=) c.1664T= (p.Val555=) c.1643T= (p.Val548=) c.1751T= (p.Val584=) | |
8 | g.93923649A= | CA1803281033 | PDP1 | c.1590A= (p.Val530=) c.1665A= (p.Val555=) c.1644A= (p.Val548=) c.1752A= (p.Val584=) | |
8 | g.93923649A>C | CA462118402 | PDP1 | c.1590A>C (p.Val530=) c.1665A>C (p.Val555=) c.1644A>C (p.Val548=) c.1752A>C (p.Val584=) | |
8 | g.93923649A>G | CA462118403 | PDP1 | c.1590A>G (p.Val530=) c.1665A>G (p.Val555=) c.1644A>G (p.Val548=) c.1752A>G (p.Val584=) | |
8 | g.93923649A>T | CA462118404 | PDP1 | c.1590A>T (p.Val530=) c.1665A>T (p.Val555=) c.1644A>T (p.Val548=) c.1752A>T (p.Val584=) | |
8 | g.93923650G>A | CA371698192 | PDP1 | c.1591G>A (p.Gly531Arg) c.1666G>A (p.Gly556Arg) c.1645G>A (p.Gly549Arg) c.1753G>A (p.Gly585Arg) | |
8 | g.93923650G>C | CA371698195 | PDP1 | c.1591G>C (p.Gly531Arg) c.1666G>C (p.Gly556Arg) c.1645G>C (p.Gly549Arg) c.1753G>C (p.Gly585Arg) | |
8 | g.93923650G>T | CA371698194 | PDP1 | c.1591G>T (p.Gly531Trp) c.1666G>T (p.Gly556Trp) c.1645G>T (p.Gly549Trp) c.1753G>T (p.Gly585Trp) | |
8 | g.93923653dup | CA4808854 | PDP1 | c.1594dup (p.Ala532GlyfsTer22) c.1669dup (p.Ala557GlyfsTer22) c.1648dup (p.Ala550GlyfsTer22) c.1756dup (p.Ala586GlyfsTer22) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923651G>A | CA181376515 | PDP1 | c.1592G>A (p.Gly531Glu) c.1667G>A (p.Gly556Glu) c.1646G>A (p.Gly549Glu) c.1754G>A (p.Gly585Glu) | dbSNP |
8 | g.93923651G>C | CA371698196 | PDP1 | c.1592G>C (p.Gly531Ala) c.1667G>C (p.Gly556Ala) c.1646G>C (p.Gly549Ala) c.1754G>C (p.Gly585Ala) | |
8 | g.93923651G= | CA1803281034 | PDP1 | c.1592G= (p.Gly531=) c.1667G= (p.Gly556=) c.1646G= (p.Gly549=) c.1754G= (p.Gly585=) | |
8 | g.93923651G>T | CA371698197 | PDP1 | c.1592G>T (p.Gly531Val) c.1667G>T (p.Gly556Val) c.1646G>T (p.Gly549Val) c.1754G>T (p.Gly585Val) | gnomAD v4 |
8 | g.93923652G>A | CA4808855 | PDP1 | c.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 |
8 | g.93923652G>C | CA462118406 | PDP1 | c.1593G>C (p.Gly531=) c.1668G>C (p.Gly556=) c.1647G>C (p.Gly549=) c.1755G>C (p.Gly585=) | |
8 | g.93923652G= | CA1803281035 | PDP1 | c.1593G= (p.Gly531=) c.1668G= (p.Gly556=) c.1647G= (p.Gly549=) c.1755G= (p.Gly585=) | |
8 | g.93923652G>T | CA462118405 | PDP1 | c.1593G>T (p.Gly531=) c.1668G>T (p.Gly556=) c.1647G>T (p.Gly549=) c.1755G>T (p.Gly585=) | |
8 | g.93923653G>A | CA371698200 | PDP1 | c.1594G>A (p.Ala532Thr) c.1669G>A (p.Ala557Thr) c.1648G>A (p.Ala550Thr) c.1756G>A (p.Ala586Thr) | |
8 | g.93923653G>C | CA371698201 | PDP1 | c.1594G>C (p.Ala532Pro) c.1669G>C (p.Ala557Pro) c.1648G>C (p.Ala550Pro) c.1756G>C (p.Ala586Pro) | |
8 | g.93923653G= | CA1803281036 | PDP1 | c.1594G= (p.Ala532=) c.1669G= (p.Ala557=) c.1648G= (p.Ala550=) c.1756G= (p.Ala586=) | |
8 | g.93923653G>T | CA371698203 | PDP1 | c.1594G>T (p.Ala532Ser) c.1669G>T (p.Ala557Ser) c.1648G>T (p.Ala550Ser) c.1756G>T (p.Ala586Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923654C>A | CA371698205 | PDP1 | c.1595C>A (p.Ala532Glu) c.1670C>A (p.Ala557Glu) c.1649C>A (p.Ala550Glu) c.1757C>A (p.Ala586Glu) | |
8 | g.93923654C= | CA1803281037 | PDP1 | c.1595C= (p.Ala532=) c.1670C= (p.Ala557=) c.1649C= (p.Ala550=) c.1757C= (p.Ala586=) | |
8 | g.93923654C>G | CA371698208 | PDP1 | c.1595C>G (p.Ala532Gly) c.1670C>G (p.Ala557Gly) c.1649C>G (p.Ala550Gly) c.1757C>G (p.Ala586Gly) | |
8 | g.93923654C>T | CA4808856 | PDP1 | c.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 |
8 | g.93923655G>A | CA4808857 | PDP1 | c.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 |
8 | g.93923655G>C | CA462118407 | PDP1 | c.1596G>C (p.Ala532=) c.1671G>C (p.Ala557=) c.1650G>C (p.Ala550=) c.1758G>C (p.Ala586=) | |
8 | g.93923655G= | CA1803281038 | PDP1 | c.1596G= (p.Ala532=) c.1671G= (p.Ala557=) c.1650G= (p.Ala550=) c.1758G= (p.Ala586=) | |
8 | g.93923655G>T | CA462118408 | PDP1 | c.1596G>T (p.Ala532=) c.1671G>T (p.Ala557=) c.1650G>T (p.Ala550=) c.1758G>T (p.Ala586=) | gnomAD v4 |
8 | g.93923656T>A | CA371698218 | PDP1 | c.1597T>A (p.Tyr533Asn) c.1672T>A (p.Tyr558Asn) c.1651T>A (p.Tyr551Asn) c.1759T>A (p.Tyr587Asn) | |
8 | g.93923656T>C | CA371698216 | PDP1 | c.1597T>C (p.Tyr533His) c.1672T>C (p.Tyr558His) c.1651T>C (p.Tyr551His) c.1759T>C (p.Tyr587His) | ClinVar dbSNP gnomAD v4 |
8 | g.93923656T>G | CA371698214 | PDP1 | c.1597T>G (p.Tyr533Asp) c.1672T>G (p.Tyr558Asp) c.1651T>G (p.Tyr551Asp) c.1759T>G (p.Tyr587Asp) | |
8 | g.93923656T= | CA1803281039 | PDP1 | c.1597T= (p.Tyr533=) c.1672T= (p.Tyr558=) c.1651T= (p.Tyr551=) c.1759T= (p.Tyr587=) | |
8 | g.93923657A= | CA1803281040 | PDP1 | c.1598A= (p.Tyr533=) c.1673A= (p.Tyr558=) c.1652A= (p.Tyr551=) c.1760A= (p.Tyr587=) | |
8 | g.93923657A>C | CA371698225 | PDP1 | c.1598A>C (p.Tyr533Ser) c.1673A>C (p.Tyr558Ser) c.1652A>C (p.Tyr551Ser) c.1760A>C (p.Tyr587Ser) | |
8 | g.93923657A>G | CA371698222 | PDP1 | c.1598A>G (p.Tyr533Cys) c.1673A>G (p.Tyr558Cys) c.1652A>G (p.Tyr551Cys) c.1760A>G (p.Tyr587Cys) | |
8 | g.93923657A>T | CA371698224 | PDP1 | c.1598A>T (p.Tyr533Phe) c.1673A>T (p.Tyr558Phe) c.1652A>T (p.Tyr551Phe) c.1760A>T (p.Tyr587Phe) | dbSNP gnomAD v2 |
8 | g.93923658T>A | CA371698227 | PDP1 | c.1599T>A (p.Tyr533Ter) c.1674T>A (p.Tyr558Ter) c.1653T>A (p.Tyr551Ter) c.1761T>A (p.Tyr587Ter) | |
8 | g.93923658T>C | CA462118409 | PDP1 | c.1599T>C (p.Tyr533=) c.1674T>C (p.Tyr558=) c.1653T>C (p.Tyr551=) c.1761T>C (p.Tyr587=) | |
8 | g.93923658T>G | CA371698228 | PDP1 | c.1599T>G (p.Tyr533Ter) c.1674T>G (p.Tyr558Ter) c.1653T>G (p.Tyr551Ter) c.1761T>G (p.Tyr587Ter) | |
8 | g.93923659C>A | CA371698231 | PDP1 | c.1600C>A (p.Gln534Lys) c.1675C>A (p.Gln559Lys) c.1654C>A (p.Gln552Lys) c.1762C>A (p.Gln588Lys) | |
8 | g.93923659C= | CA1803281041 | PDP1 | c.1600C= (p.Gln534=) c.1675C= (p.Gln559=) c.1654C= (p.Gln552=) c.1762C= (p.Gln588=) | |
8 | g.93923659C>G | CA371698233 | PDP1 | c.1600C>G (p.Gln534Glu) c.1675C>G (p.Gln559Glu) c.1654C>G (p.Gln552Glu) c.1762C>G (p.Gln588Glu) | gnomAD v4 |
8 | g.93923659C>T | CA371698235 | PDP1 | c.1600C>T (p.Gln534Ter) c.1675C>T (p.Gln559Ter) c.1654C>T (p.Gln552Ter) c.1762C>T (p.Gln588Ter) | dbSNP |
8 | g.93923660A>C | CA371698238 | PDP1 | c.1601A>C (p.Gln534Pro) c.1676A>C (p.Gln559Pro) c.1655A>C (p.Gln552Pro) c.1763A>C (p.Gln588Pro) | |
8 | g.93923660A>G | CA371698240 | PDP1 | c.1601A>G (p.Gln534Arg) c.1676A>G (p.Gln559Arg) c.1655A>G (p.Gln552Arg) c.1763A>G (p.Gln588Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.93923660A>T | CA371698241 | PDP1 | c.1601A>T (p.Gln534Leu) c.1676A>T (p.Gln559Leu) c.1655A>T (p.Gln552Leu) c.1763A>T (p.Gln588Leu) | |
8 | g.93923661A>C | CA371698243 | PDP1 | c.1602A>C (p.Gln534His) c.1677A>C (p.Gln559His) c.1656A>C (p.Gln552His) c.1764A>C (p.Gln588His) | |
8 | g.93923661A>G | CA462118410 | PDP1 | c.1602A>G (p.Gln534=) c.1677A>G (p.Gln559=) c.1656A>G (p.Gln552=) c.1764A>G (p.Gln588=) | |
8 | g.93923661A>T | CA371698245 | PDP1 | c.1602A>T (p.Gln534His) c.1677A>T (p.Gln559His) c.1656A>T (p.Gln552His) c.1764A>T (p.Gln588His) | |
8 | g.93923662A>C | CA371698252 | PDP1 | c.1603A>C (p.Asn535His) c.1678A>C (p.Asn560His) c.1657A>C (p.Asn553His) c.1765A>C (p.Asn589His) | |
8 | g.93923662A>G | CA371698249 | PDP1 | c.1603A>G (p.Asn535Asp) c.1678A>G (p.Asn560Asp) c.1657A>G (p.Asn553Asp) c.1765A>G (p.Asn589Asp) | |
8 | g.93923662A>T | CA371698247 | PDP1 | c.1603A>T (p.Asn535Tyr) c.1678A>T (p.Asn560Tyr) c.1657A>T (p.Asn553Tyr) c.1765A>T (p.Asn589Tyr) | |
8 | g.93923663A= | CA1803281042 | PDP1 | c.1604A= (p.Asn535=) c.1679A= (p.Asn560=) c.1658A= (p.Asn553=) c.1766A= (p.Asn589=) | |
8 | g.93923663A>C | CA371698254 | PDP1 | c.1604A>C (p.Asn535Thr) c.1679A>C (p.Asn560Thr) c.1658A>C (p.Asn553Thr) c.1766A>C (p.Asn589Thr) | |
8 | g.93923663A>G | CA371698256 | PDP1 | c.1604A>G (p.Asn535Ser) c.1679A>G (p.Asn560Ser) c.1658A>G (p.Asn553Ser) c.1766A>G (p.Asn589Ser) | gnomAD v4 |
8 | g.93923663A>T | CA371698257 | PDP1 | c.1604A>T (p.Asn535Ile) c.1679A>T (p.Asn560Ile) c.1658A>T (p.Asn553Ile) c.1766A>T (p.Asn589Ile) | dbSNP |
8 | g.93923664C>A | CA371698260 | PDP1 | c.1605C>A (p.Asn535Lys) c.1680C>A (p.Asn560Lys) c.1659C>A (p.Asn553Lys) c.1767C>A (p.Asn589Lys) | |
8 | g.93923664C>G | CA371698261 | PDP1 | c.1605C>G (p.Asn535Lys) c.1680C>G (p.Asn560Lys) c.1659C>G (p.Asn553Lys) c.1767C>G (p.Asn589Lys) | |
8 | g.93923664C>T | CA462118414 | PDP1 | c.1605C>T (p.Asn535=) c.1680C>T (p.Asn560=) c.1659C>T (p.Asn553=) c.1767C>T (p.Asn589=) | |
8 | g.93923665C>A | CA371698263 | PDP1 | c.1606C>A (p.Gln536Lys) c.1681C>A (p.Gln561Lys) c.1660C>A (p.Gln554Lys) c.1768C>A (p.Gln590Lys) | |
8 | g.93923665C= | CA1803281043 | PDP1 | c.1606C= (p.Gln536=) c.1681C= (p.Gln561=) c.1660C= (p.Gln554=) c.1768C= (p.Gln590=) | |
8 | g.93923665C>G | CA371698265 | PDP1 | c.1606C>G (p.Gln536Glu) c.1681C>G (p.Gln561Glu) c.1660C>G (p.Gln554Glu) c.1768C>G (p.Gln590Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923665C>T | CA371698267 | PDP1 | c.1606C>T (p.Gln536Ter) c.1681C>T (p.Gln561Ter) c.1660C>T (p.Gln554Ter) c.1768C>T (p.Gln590Ter) | gnomAD v4 |
8 | g.93923666A= | CA1803281044 | PDP1 | c.1607A= (p.Gln536=) c.1682A= (p.Gln561=) c.1661A= (p.Gln554=) c.1769A= (p.Gln590=) | |
8 | g.93923666A>C | CA371698268 | PDP1 | c.1607A>C (p.Gln536Pro) c.1682A>C (p.Gln561Pro) c.1661A>C (p.Gln554Pro) c.1769A>C (p.Gln590Pro) | |
8 | g.93923666A>G | CA371698269 | PDP1 | c.1607A>G (p.Gln536Arg) c.1682A>G (p.Gln561Arg) c.1661A>G (p.Gln554Arg) c.1769A>G (p.Gln590Arg) | dbSNP |
8 | g.93923666A>T | CA371698271 | PDP1 | c.1607A>T (p.Gln536Leu) c.1682A>T (p.Gln561Leu) c.1661A>T (p.Gln554Leu) c.1769A>T (p.Gln590Leu) | |
8 | g.93923666_93923667insCCAAACACACCCAACAC | CA2781329154 | PDP1 | c.1607_1608insCCAAACACACCCAACAC (p.Gln536HisfsTer34) c.1682_1683insCCAAACACACCCAACAC (p.Gln561HisfsTer34) c.1661_1662insCCAAACACACCCAACAC (p.Gln554HisfsTer34) c.1769_1770insCCAAACACACCCAACAC (p.Gln590HisfsTer34) | |
8 | g.93923667A= | CA1803281045 | PDP1 | c.1608A= (p.Gln536=) c.1683A= (p.Gln561=) c.1662A= (p.Gln554=) c.1770A= (p.Gln590=) | |
8 | g.93923667A>C | CA371698273 | PDP1 | c.1608A>C (p.Gln536His) c.1683A>C (p.Gln561His) c.1662A>C (p.Gln554His) c.1770A>C (p.Gln590His) | |
8 | g.93923667A>G | CA462118419 | PDP1 | c.1608A>G (p.Gln536=) c.1683A>G (p.Gln561=) c.1662A>G (p.Gln554=) c.1770A>G (p.Gln590=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923667A>T | CA371698275 | PDP1 | c.1608A>T (p.Gln536His) c.1683A>T (p.Gln561His) c.1662A>T (p.Gln554His) c.1770A>T (p.Gln590His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923668G>A | CA371698279 | PDP1 | c.1609G>A (p.Glu537Lys) c.1684G>A (p.Glu562Lys) c.1663G>A (p.Glu555Lys) c.1771G>A (p.Glu591Lys) | |
8 | g.93923668G>C | CA371698281 | PDP1 | c.1609G>C (p.Glu537Gln) c.1684G>C (p.Glu562Gln) c.1663G>C (p.Glu555Gln) c.1771G>C (p.Glu591Gln) | |
8 | g.93923668G>T | CA371698277 | PDP1 | c.1609G>T (p.Glu537Ter) c.1684G>T (p.Glu562Ter) c.1663G>T (p.Glu555Ter) c.1771G>T (p.Glu591Ter) | gnomAD v4 |
8 | g.93923669A>C | CA371698282 | PDP1 | c.1610A>C (p.Glu537Ala) c.1685A>C (p.Glu562Ala) c.1664A>C (p.Glu555Ala) c.1772A>C (p.Glu591Ala) | COSMIC COSMIC |
8 | g.93923669A>G | CA371698286 | PDP1 | c.1610A>G (p.Glu537Gly) c.1685A>G (p.Glu562Gly) c.1664A>G (p.Glu555Gly) c.1772A>G (p.Glu591Gly) | |
8 | g.93923669A>T | CA371698284 | PDP1 | c.1610A>T (p.Glu537Val) c.1685A>T (p.Glu562Val) c.1664A>T (p.Glu555Val) c.1772A>T (p.Glu591Val) | |
8 | g.93923670A>C | CA371698288 | PDP1 | c.1611A>C (p.Glu537Asp) c.1686A>C (p.Glu562Asp) c.1665A>C (p.Glu555Asp) c.1773A>C (p.Glu591Asp) | |
8 | g.93923670A>G | CA462118421 | PDP1 | c.1611A>G (p.Glu537=) c.1686A>G (p.Glu562=) c.1665A>G (p.Glu555=) c.1773A>G (p.Glu591=) | dbSNP gnomAD v4 |
8 | g.93923670A>T | CA371698290 | PDP1 | c.1611A>T (p.Glu537Asp) c.1686A>T (p.Glu562Asp) c.1665A>T (p.Glu555Asp) c.1773A>T (p.Glu591Asp) | ClinVar dbSNP |
8 | g.93923671T>A | CA371698292 | PDP1 | c.1612T>A (p.Ter538Lys) c.1687T>A (p.Ter563Lys) c.1666T>A (p.Ter556Lys) c.1774T>A (p.Ter592Lys) | |
8 | g.93923671T>C | CA371698294 | PDP1 | c.1612T>C (p.Ter538Gln) c.1687T>C (p.Ter563Gln) c.1666T>C (p.Ter556Gln) c.1774T>C (p.Ter592Gln) | |
8 | g.93923671T>G | CA371698296 | PDP1 | c.1612T>G (p.Ter538Glu) c.1687T>G (p.Ter563Glu) c.1666T>G (p.Ter556Glu) c.1774T>G (p.Ter592Glu) | |
8 | g.93923672A>C | CA371698298 | PDP1 | c.1613A>C (p.Ter538Ser) c.1688A>C (p.Ter563Ser) c.1667A>C (p.Ter556Ser) c.1775A>C (p.Ter592Ser) | |
8 | g.93923672A>G | CA371698300 | PDP1 | c.1613A>G (p.Ter538Trp) c.1688A>G (p.Ter563Trp) c.1667A>G (p.Ter556Trp) c.1775A>G (p.Ter592Trp) | |
8 | g.93923672A>T | CA371698302 | PDP1 | c.1613A>T (p.Ter538Leu) c.1688A>T (p.Ter563Leu) c.1667A>T (p.Ter556Leu) c.1775A>T (p.Ter592Leu) | |
8 | g.93923673G>A | CA462118423 | PDP1 | c.1614G>A (p.Ter538=) c.1689G>A (p.Ter563=) c.1668G>A (p.Ter556=) c.1776G>A (p.Ter592=) | gnomAD v4 |
8 | g.93923673G>C | CA181376536 | PDP1 | c.1614G>C (p.Ter538Tyr) c.1689G>C (p.Ter563Tyr) c.1668G>C (p.Ter556Tyr) c.1776G>C (p.Ter592Tyr) | ClinVar dbSNP gnomAD v4 |
8 | g.93923673G= | CA1803281046 | PDP1 | c.1614G= (p.Ter538=) c.1689G= (p.Ter563=) c.1668G= (p.Ter556=) c.1776G= (p.Ter592=) | |
8 | g.93923673G>T | CA371698304 | PDP1 | c.1614G>T (p.Ter538Tyr) c.1689G>T (p.Ter563Tyr) c.1668G>T (p.Ter556Tyr) c.1776G>T (p.Ter592Tyr) | COSMIC COSMIC |
8 | g.93923674T>C | CA4808858 | PDP1 | c.*1T>C (n.*1T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923674T= | CA1803281047 | PDP1 | c.*1T= (n.*1T=) | |
8 | g.93923675G>C | CA4808859 | PDP1 | c.*2G>C (n.*2G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923675G= | CA1803281048 | PDP1 | c.*2G= (n.*2G=) | |
8 | g.93923675G>T | CA2687927930 | PDP1 | c.*2G>T (n.*2G>T) | gnomAD v4 |
8 | g.93923676_93923677insAAGAGCCACTCACTATTCTT | CA2687927932 | PDP1 | c.*3_*4insAAGAGCCACTCACTATTCTT (n.*3_*4insAAGAGCCACTCACTATTCTT) | gnomAD v4 |
8 | g.93923678T>A | CA2687927934 | PDP1 | c.*5T>A (n.*5T>A) | gnomAD v4 |
8 | g.93923679_93923682dup | CA2687927933 | PDP1 | c.*6_*9dup (n.*6_*9dup) | gnomAD v4 |
8 | g.93923679G>A | CA2687927937 | PDP1 | c.*6G>A (n.*6G>A) | gnomAD v4 |
8 | g.93923680del | CA2687927935 | PDP1 | c.*7del (n.*7del) | gnomAD v4 |
8 | g.93923680G>A | CA2687927939 | PDP1 | c.*7G>A (n.*7G>A) | gnomAD v4 |
8 | g.93923681C>G | CA2567735802 | PDP1 | c.*8C>G (n.*8C>G) | |
8 | g.93923682T>C | CA2687927941 | PDP1 | c.*9T>C (n.*9T>C) | gnomAD v4 |
8 | g.93923683C>A | CA2687927942 | PDP1 | c.*10C>A (n.*10C>A) | gnomAD v4 |
8 | g.93923686dup | CA2687927944 | PDP1 | c.*13dup (n.*13dup) | gnomAD v4 |
8 | g.93923686T>C | CA1803281050 | PDP1 | c.*13T>C (n.*13T>C) | dbSNP |
8 | g.93923686T= | CA1803281049 | PDP1 | c.*13T= (n.*13T=) | |
8 | g.93923686_93923687del | CA2506390581 | PDP1 | c.*13_*14del (n.*13_*14del) | |
8 | g.93923687C>A | CA2687927945 | PDP1 | c.*14C>A (n.*14C>A) | gnomAD v4 |
8 | g.93923687C= | CA1803281051 | PDP1 | c.*14C= (n.*14C=) | |
8 | g.93923687C>G | CA2687927946 | PDP1 | c.*14C>G (n.*14C>G) | gnomAD v4 |
8 | g.93923687C>T | CA4808860 | PDP1 | c.*14C>T (n.*14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923688A= | CA1803281052 | PDP1 | c.*15A= (n.*15A=) | |
8 | g.93923688A>G | CA1803281053 | PDP1 | c.*15A>G (n.*15A>G) | dbSNP gnomAD v4 |
8 | g.93923689C>A | CA4808861 | PDP1 | c.*16C>A (n.*16C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923689C= | CA1803281054 | PDP1 | c.*16C= (n.*16C=) | |
8 | g.93923689_93923690insCA | CA2555468053 | PDP1 | c.*16_*17insCA (n.*16_*17insCA) | |
8 | g.93923690T>A | CA2550138783 | PDP1 | c.*17T>A (n.*17T>A) | |
8 | g.93923691G>A | CA2687927953 | PDP1 | c.*18G>A (n.*18G>A) | gnomAD v4 |
8 | g.93923691G>T | CA2687927955 | PDP1 | c.*18G>T (n.*18G>T) | gnomAD v4 |
8 | g.93923692del | CA2687927952 | PDP1 | c.*19del (n.*19del) | gnomAD v4 |
8 | g.93923692G>A | CA2687927956 | PDP1 | c.*19G>A (n.*19G>A) | gnomAD v4 |
8 | g.93923692G>C | CA2687927957 | PDP1 | c.*19G>C (n.*19G>C) | gnomAD v4 |
8 | g.93923693C>A | CA2687927959 | PDP1 | c.*20C>A (n.*20C>A) | gnomAD v4 |
8 | g.93923693C= | CA1803281055 | PDP1 | c.*20C= (n.*20C=) | |
8 | g.93923693C>G | CA4808862 | PDP1 | c.*20C>G (n.*20C>G) | dbSNP ExAC |
8 | g.93923693C>T | CA2687927960 | PDP1 | c.*20C>T (n.*20C>T) | gnomAD v4 |
8 | g.93923695A= | CA1803281056 | PDP1 | c.*22A= (n.*22A=) | |
8 | g.93923695A>G | CA181376568 | PDP1 | c.*22A>G (n.*22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |