Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.93923511_93923525delinsCCACGCTGTGGGCAACA1803280980PDP1c.1452_1466delinsCCACGCTGTGGGCAA (p.Arg484=)
c.1527_1541delinsCCACGCTGTGGGCAA (p.Arg509=)
c.1506_1520delinsCCACGCTGTGGGCAA (p.Arg502=)
c.1614_1628delinsCCACGCTGTGGGCAA (p.Arg538=)
8g.93923514_93923527delCA4808834PDP1c.1455_1468del (p.His485GlnfsTer7)
c.1530_1543del (p.His510GlnfsTer7)
c.1509_1522del (p.His503GlnfsTer7)
c.1617_1630del (p.His539GlnfsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923521G>ACA371697498PDP1c.1462G>A (p.Gly488Ser)
c.1537G>A (p.Gly513Ser)
c.1516G>A (p.Gly506Ser)
c.1624G>A (p.Gly542Ser)
8g.93923521G>CCA371697494PDP1c.1462G>C (p.Gly488Arg)
c.1537G>C (p.Gly513Arg)
c.1516G>C (p.Gly506Arg)
c.1624G>C (p.Gly542Arg)
8g.93923521G>TCA371697495PDP1c.1462G>T (p.Gly488Cys)
c.1537G>T (p.Gly513Cys)
c.1516G>T (p.Gly506Cys)
c.1624G>T (p.Gly542Cys)
8g.93923522G>ACA371697500PDP1c.1463G>A (p.Gly488Asp)
c.1538G>A (p.Gly513Asp)
c.1517G>A (p.Gly506Asp)
c.1625G>A (p.Gly542Asp)
 dbSNP COSMIC COSMIC
8g.93923522G>CCA371697502PDP1c.1463G>C (p.Gly488Ala)
c.1538G>C (p.Gly513Ala)
c.1517G>C (p.Gly506Ala)
c.1625G>C (p.Gly542Ala)
8g.93923522G>TCA371697510PDP1c.1463G>T (p.Gly488Val)
c.1538G>T (p.Gly513Val)
c.1517G>T (p.Gly506Val)
c.1625G>T (p.Gly542Val)
8g.93923523C>ACA462118273PDP1c.1464C>A (p.Gly488=)
c.1539C>A (p.Gly513=)
c.1518C>A (p.Gly506=)
c.1626C>A (p.Gly542=)
8g.93923523C=CA1803280985PDP1c.1464C= (p.Gly488=)
c.1539C= (p.Gly513=)
c.1518C= (p.Gly506=)
c.1626C= (p.Gly542=)
8g.93923523C>GCA462118271PDP1c.1464C>G (p.Gly488=)
c.1539C>G (p.Gly513=)
c.1518C>G (p.Gly506=)
c.1626C>G (p.Gly542=)
8g.93923523C>TCA462118272PDP1c.1464C>T (p.Gly488=)
c.1539C>T (p.Gly513=)
c.1518C>T (p.Gly506=)
c.1626C>T (p.Gly542=)
 dbSNP gnomAD v4
8g.93923527_93923529delCA2687927876PDP1c.1468_1470del (p.Asn490del)
c.1543_1545del (p.Asn515del)
c.1522_1524del (p.Asn508del)
c.1630_1632del (p.Asn544del)
 gnomAD v4
8g.93923524A>CCA371697512PDP1c.1465A>C (p.Asn489His)
c.1540A>C (p.Asn514His)
c.1519A>C (p.Asn507His)
c.1627A>C (p.Asn543His)
8g.93923524A>GCA371697513PDP1c.1465A>G (p.Asn489Asp)
c.1540A>G (p.Asn514Asp)
c.1519A>G (p.Asn507Asp)
c.1627A>G (p.Asn543Asp)
8g.93923524A>TCA371697514PDP1c.1465A>T (p.Asn489Tyr)
c.1540A>T (p.Asn514Tyr)
c.1519A>T (p.Asn507Tyr)
c.1627A>T (p.Asn543Tyr)
8g.93923524_93923525dupCA2687927877PDP1c.1465_1466dup (p.Asn489LysfsTer?)
c.1540_1541dup (p.Asn514LysfsTer?)
c.1519_1520dup (p.Asn507LysfsTer?)
c.1627_1628dup (p.Asn543LysfsTer?)
 gnomAD v4
8g.93923525A=CA1803280986PDP1c.1466A= (p.Asn489=)
c.1541A= (p.Asn514=)
c.1520A= (p.Asn507=)
c.1628A= (p.Asn543=)
8g.93923525A>CCA371697515PDP1c.1466A>C (p.Asn489Thr)
c.1541A>C (p.Asn514Thr)
c.1520A>C (p.Asn507Thr)
c.1628A>C (p.Asn543Thr)
8g.93923525A>GCA4808837PDP1c.1466A>G (p.Asn489Ser)
c.1541A>G (p.Asn514Ser)
c.1520A>G (p.Asn507Ser)
c.1628A>G (p.Asn543Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923525A>TCA371697517PDP1c.1466A>T (p.Asn489Ile)
c.1541A>T (p.Asn514Ile)
c.1520A>T (p.Asn507Ile)
c.1628A>T (p.Asn543Ile)
8g.93923526C>ACA371697519PDP1c.1467C>A (p.Asn489Lys)
c.1542C>A (p.Asn514Lys)
c.1521C>A (p.Asn507Lys)
c.1629C>A (p.Asn543Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.93923526C=CA1803280987PDP1c.1467C= (p.Asn489=)
c.1542C= (p.Asn514=)
c.1521C= (p.Asn507=)
c.1629C= (p.Asn543=)
8g.93923526C>GCA371697520PDP1c.1467C>G (p.Asn489Lys)
c.1542C>G (p.Asn514Lys)
c.1521C>G (p.Asn507Lys)
c.1629C>G (p.Asn543Lys)
8g.93923526C>TCA462118274PDP1c.1467C>T (p.Asn489=)
c.1542C>T (p.Asn514=)
c.1521C>T (p.Asn507=)
c.1629C>T (p.Asn543=)
8g.93923527A>CCA371697523PDP1c.1468A>C (p.Asn490His)
c.1543A>C (p.Asn515His)
c.1522A>C (p.Asn508His)
c.1630A>C (p.Asn544His)
8g.93923527A>GCA371697522PDP1c.1468A>G (p.Asn490Asp)
c.1543A>G (p.Asn515Asp)
c.1522A>G (p.Asn508Asp)
c.1630A>G (p.Asn544Asp)
8g.93923527A>TCA371697521PDP1c.1468A>T (p.Asn490Tyr)
c.1543A>T (p.Asn515Tyr)
c.1522A>T (p.Asn508Tyr)
c.1630A>T (p.Asn544Tyr)
8g.93923528A>CCA371697526PDP1c.1469A>C (p.Asn490Thr)
c.1544A>C (p.Asn515Thr)
c.1523A>C (p.Asn508Thr)
c.1631A>C (p.Asn544Thr)
8g.93923528A>GCA371697533PDP1c.1469A>G (p.Asn490Ser)
c.1544A>G (p.Asn515Ser)
c.1523A>G (p.Asn508Ser)
c.1631A>G (p.Asn544Ser)
8g.93923528A>TCA371697528PDP1c.1469A>T (p.Asn490Ile)
c.1544A>T (p.Asn515Ile)
c.1523A>T (p.Asn508Ile)
c.1631A>T (p.Asn544Ile)
8g.93923529C>ACA371697536PDP1c.1470C>A (p.Asn490Lys)
c.1545C>A (p.Asn515Lys)
c.1524C>A (p.Asn508Lys)
c.1632C>A (p.Asn544Lys)
8g.93923529C=CA1803280988PDP1c.1470C= (p.Asn490=)
c.1545C= (p.Asn515=)
c.1524C= (p.Asn508=)
c.1632C= (p.Asn544=)
8g.93923529C>GCA371697551PDP1c.1470C>G (p.Asn490Lys)
c.1545C>G (p.Asn515Lys)
c.1524C>G (p.Asn508Lys)
c.1632C>G (p.Asn544Lys)
8g.93923529C>TCA4808838PDP1c.1470C>T (p.Asn490=)
c.1545C>T (p.Asn515=)
c.1524C>T (p.Asn508=)
c.1632C>T (p.Asn544=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923530G>ACA371697559PDP1c.1471G>A (p.Glu491Lys)
c.1546G>A (p.Glu516Lys)
c.1525G>A (p.Glu509Lys)
c.1633G>A (p.Glu545Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.93923530G>CCA371697563PDP1c.1471G>C (p.Glu491Gln)
c.1546G>C (p.Glu516Gln)
c.1525G>C (p.Glu509Gln)
c.1633G>C (p.Glu545Gln)
8g.93923530G=CA1803280989PDP1c.1471G= (p.Glu491=)
c.1546G= (p.Glu516=)
c.1525G= (p.Glu509=)
c.1633G= (p.Glu545=)
8g.93923530G>TCA371697562PDP1c.1471G>T (p.Glu491Ter)
c.1546G>T (p.Glu516Ter)
c.1525G>T (p.Glu509Ter)
c.1633G>T (p.Glu545Ter)
8g.93923531A>CCA371697564PDP1c.1472A>C (p.Glu491Ala)
c.1547A>C (p.Glu516Ala)
c.1526A>C (p.Glu509Ala)
c.1634A>C (p.Glu545Ala)
8g.93923531A>GCA371697566PDP1c.1472A>G (p.Glu491Gly)
c.1547A>G (p.Glu516Gly)
c.1526A>G (p.Glu509Gly)
c.1634A>G (p.Glu545Gly)
 gnomAD v4
8g.93923531A>TCA371697565PDP1c.1472A>T (p.Glu491Val)
c.1547A>T (p.Glu516Val)
c.1526A>T (p.Glu509Val)
c.1634A>T (p.Glu545Val)
8g.93923532G>ACA462118275PDP1c.1473G>A (p.Glu491=)
c.1548G>A (p.Glu516=)
c.1527G>A (p.Glu509=)
c.1635G>A (p.Glu545=)
8g.93923532G>CCA181376378PDP1c.1473G>C (p.Glu491Asp)
c.1548G>C (p.Glu516Asp)
c.1527G>C (p.Glu509Asp)
c.1635G>C (p.Glu545Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923532G=CA1803280990PDP1c.1473G= (p.Glu491=)
c.1548G= (p.Glu516=)
c.1527G= (p.Glu509=)
c.1635G= (p.Glu545=)
8g.93923532G>TCA371697571PDP1c.1473G>T (p.Glu491Asp)
c.1548G>T (p.Glu516Asp)
c.1527G>T (p.Glu509Asp)
c.1635G>T (p.Glu545Asp)
8g.93923533T>ACA371697578PDP1c.1474T>A (p.Phe492Ile)
c.1549T>A (p.Phe517Ile)
c.1528T>A (p.Phe510Ile)
c.1636T>A (p.Phe546Ile)
8g.93923533T>CCA371697580PDP1c.1474T>C (p.Phe492Leu)
c.1549T>C (p.Phe517Leu)
c.1528T>C (p.Phe510Leu)
c.1636T>C (p.Phe546Leu)
8g.93923533T>GCA371697579PDP1c.1474T>G (p.Phe492Val)
c.1549T>G (p.Phe517Val)
c.1528T>G (p.Phe510Val)
c.1636T>G (p.Phe546Val)
8g.93923534T>ACA371697583PDP1c.1475T>A (p.Phe492Tyr)
c.1550T>A (p.Phe517Tyr)
c.1529T>A (p.Phe510Tyr)
c.1637T>A (p.Phe546Tyr)
8g.93923534T>CCA371697585PDP1c.1475T>C (p.Phe492Ser)
c.1550T>C (p.Phe517Ser)
c.1529T>C (p.Phe510Ser)
c.1637T>C (p.Phe546Ser)
 gnomAD v4
8g.93923534T>GCA371697587PDP1c.1475T>G (p.Phe492Cys)
c.1550T>G (p.Phe517Cys)
c.1529T>G (p.Phe510Cys)
c.1637T>G (p.Phe546Cys)
8g.93923535T>ACA371697590PDP1c.1476T>A (p.Phe492Leu)
c.1551T>A (p.Phe517Leu)
c.1530T>A (p.Phe510Leu)
c.1638T>A (p.Phe546Leu)
 dbSNP
8g.93923535T>CCA462118276PDP1c.1476T>C (p.Phe492=)
c.1551T>C (p.Phe517=)
c.1530T>C (p.Phe510=)
c.1638T>C (p.Phe546=)
8g.93923535T>GCA371697605PDP1c.1476T>G (p.Phe492Leu)
c.1551T>G (p.Phe517Leu)
c.1530T>G (p.Phe510Leu)
c.1638T>G (p.Phe546Leu)
8g.93923535T=CA1803280991PDP1c.1476T= (p.Phe492=)
c.1551T= (p.Phe517=)
c.1530T= (p.Phe510=)
c.1638T= (p.Phe546=)
8g.93923536G>ACA371697609PDP1c.1477G>A (p.Gly493Arg)
c.1552G>A (p.Gly518Arg)
c.1531G>A (p.Gly511Arg)
c.1639G>A (p.Gly547Arg)
8g.93923536G>CCA371697610PDP1c.1477G>C (p.Gly493Arg)
c.1552G>C (p.Gly518Arg)
c.1531G>C (p.Gly511Arg)
c.1639G>C (p.Gly547Arg)
8g.93923536G>TCA371697611PDP1c.1477G>T (p.Gly493Trp)
c.1552G>T (p.Gly518Trp)
c.1531G>T (p.Gly511Trp)
c.1639G>T (p.Gly547Trp)
8g.93923537G>ACA371697612PDP1c.1478G>A (p.Gly493Glu)
c.1553G>A (p.Gly518Glu)
c.1532G>A (p.Gly511Glu)
c.1640G>A (p.Gly547Glu)
8g.93923537G>CCA371697614PDP1c.1478G>C (p.Gly493Ala)
c.1553G>C (p.Gly518Ala)
c.1532G>C (p.Gly511Ala)
c.1640G>C (p.Gly547Ala)
8g.93923537G>TCA371697617PDP1c.1478G>T (p.Gly493Val)
c.1553G>T (p.Gly518Val)
c.1532G>T (p.Gly511Val)
c.1640G>T (p.Gly547Val)
8g.93923538G>ACA462118277PDP1c.1479G>A (p.Gly493=)
c.1554G>A (p.Gly518=)
c.1533G>A (p.Gly511=)
c.1641G>A (p.Gly547=)
8g.93923538G>CCA462118278PDP1c.1479G>C (p.Gly493=)
c.1554G>C (p.Gly518=)
c.1533G>C (p.Gly511=)
c.1641G>C (p.Gly547=)
8g.93923538G>TCA462118279PDP1c.1479G>T (p.Gly493=)
c.1554G>T (p.Gly518=)
c.1533G>T (p.Gly511=)
c.1641G>T (p.Gly547=)
 gnomAD v4
8g.93923539A>CCA371697627PDP1c.1480A>C (p.Thr494Pro)
c.1555A>C (p.Thr519Pro)
c.1534A>C (p.Thr512Pro)
c.1642A>C (p.Thr548Pro)
8g.93923539A>GCA371697630PDP1c.1480A>G (p.Thr494Ala)
c.1555A>G (p.Thr519Ala)
c.1534A>G (p.Thr512Ala)
c.1642A>G (p.Thr548Ala)
8g.93923539A>TCA371697637PDP1c.1480A>T (p.Thr494Ser)
c.1555A>T (p.Thr519Ser)
c.1534A>T (p.Thr512Ser)
c.1642A>T (p.Thr548Ser)
8g.93923540C>ACA371697648PDP1c.1481C>A (p.Thr494Asn)
c.1556C>A (p.Thr519Asn)
c.1535C>A (p.Thr512Asn)
c.1643C>A (p.Thr548Asn)
8g.93923540C=CA1803280993PDP1c.1481C= (p.Thr494=)
c.1556C= (p.Thr519=)
c.1535C= (p.Thr512=)
c.1643C= (p.Thr548=)
8g.93923540C>GCA371697644PDP1c.1481C>G (p.Thr494Ser)
c.1556C>G (p.Thr519Ser)
c.1535C>G (p.Thr512Ser)
c.1643C>G (p.Thr548Ser)
8g.93923540C>TCA4808839PDP1c.1481C>T (p.Thr494Ile)
c.1556C>T (p.Thr519Ile)
c.1535C>T (p.Thr512Ile)
c.1643C>T (p.Thr548Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923540_93923541delinsCTCA1803280992PDP1c.1481_1482delinsCT (p.Thr494=)
c.1556_1557delinsCT (p.Thr519=)
c.1535_1536delinsCT (p.Thr512=)
c.1643_1644delinsCT (p.Thr548=)
8g.93923541delCA1116700124PDP1c.1482del (p.Val495LeufsTer28)
c.1557del (p.Val520LeufsTer28)
c.1536del (p.Val513LeufsTer28)
c.1644del (p.Val549LeufsTer28)
 dbSNP gnomAD v3 gnomAD v4
8g.93923541T>ACA462118280PDP1c.1482T>A (p.Thr494=)
c.1557T>A (p.Thr519=)
c.1536T>A (p.Thr512=)
c.1644T>A (p.Thr548=)
8g.93923541T>CCA462118281PDP1c.1482T>C (p.Thr494=)
c.1557T>C (p.Thr519=)
c.1536T>C (p.Thr512=)
c.1644T>C (p.Thr548=)
8g.93923541T>GCA462118282PDP1c.1482T>G (p.Thr494=)
c.1557T>G (p.Thr519=)
c.1536T>G (p.Thr512=)
c.1644T>G (p.Thr548=)
 gnomAD v4
8g.93923542G>ACA371697652PDP1c.1483G>A (p.Val495Ile)
c.1558G>A (p.Val520Ile)
c.1537G>A (p.Val513Ile)
c.1645G>A (p.Val549Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.93923542G>CCA371697655PDP1c.1483G>C (p.Val495Leu)
c.1558G>C (p.Val520Leu)
c.1537G>C (p.Val513Leu)
c.1645G>C (p.Val549Leu)
8g.93923542G=CA1803280994PDP1c.1483G= (p.Val495=)
c.1558G= (p.Val520=)
c.1537G= (p.Val513=)
c.1645G= (p.Val549=)
8g.93923542G>TCA371697657PDP1c.1483G>T (p.Val495Phe)
c.1558G>T (p.Val520Phe)
c.1537G>T (p.Val513Phe)
c.1645G>T (p.Val549Phe)
8g.93923543T>ACA371697658PDP1c.1484T>A (p.Val495Asp)
c.1559T>A (p.Val520Asp)
c.1538T>A (p.Val513Asp)
c.1646T>A (p.Val549Asp)
8g.93923543T>CCA371697659PDP1c.1484T>C (p.Val495Ala)
c.1559T>C (p.Val520Ala)
c.1538T>C (p.Val513Ala)
c.1646T>C (p.Val549Ala)
8g.93923543T>GCA371697660PDP1c.1484T>G (p.Val495Gly)
c.1559T>G (p.Val520Gly)
c.1538T>G (p.Val513Gly)
c.1646T>G (p.Val549Gly)
8g.93923544T>ACA462118283PDP1c.1485T>A (p.Val495=)
c.1560T>A (p.Val520=)
c.1539T>A (p.Val513=)
c.1647T>A (p.Val549=)
8g.93923544T>CCA462118284PDP1c.1485T>C (p.Val495=)
c.1560T>C (p.Val520=)
c.1539T>C (p.Val513=)
c.1647T>C (p.Val549=)
 gnomAD v4
8g.93923544T>GCA462118285PDP1c.1485T>G (p.Val495=)
c.1560T>G (p.Val520=)
c.1539T>G (p.Val513=)
c.1647T>G (p.Val549=)
8g.93923545G>ACA371697661PDP1c.1486G>A (p.Asp496Asn)
c.1561G>A (p.Asp521Asn)
c.1540G>A (p.Asp514Asn)
c.1648G>A (p.Asp550Asn)
8g.93923545G>CCA371697663PDP1c.1486G>C (p.Asp496His)
c.1561G>C (p.Asp521His)
c.1540G>C (p.Asp514His)
c.1648G>C (p.Asp550His)
8g.93923545G>TCA371697668PDP1c.1486G>T (p.Asp496Tyr)
c.1561G>T (p.Asp521Tyr)
c.1540G>T (p.Asp514Tyr)
c.1648G>T (p.Asp550Tyr)
8g.93923546A>CCA371697671PDP1c.1487A>C (p.Asp496Ala)
c.1562A>C (p.Asp521Ala)
c.1541A>C (p.Asp514Ala)
c.1649A>C (p.Asp550Ala)
8g.93923546A>GCA371697675PDP1c.1487A>G (p.Asp496Gly)
c.1562A>G (p.Asp521Gly)
c.1541A>G (p.Asp514Gly)
c.1649A>G (p.Asp550Gly)
8g.93923546A>TCA371697677PDP1c.1487A>T (p.Asp496Val)
c.1562A>T (p.Asp521Val)
c.1541A>T (p.Asp514Val)
c.1649A>T (p.Asp550Val)
8g.93923547T>ACA371697679PDP1c.1488T>A (p.Asp496Glu)
c.1563T>A (p.Asp521Glu)
c.1542T>A (p.Asp514Glu)
c.1650T>A (p.Asp550Glu)
 gnomAD v4
8g.93923547T>CCA462118286PDP1c.1488T>C (p.Asp496=)
c.1563T>C (p.Asp521=)
c.1542T>C (p.Asp514=)
c.1650T>C (p.Asp550=)
8g.93923547T>GCA371697681PDP1c.1488T>G (p.Asp496Glu)
c.1563T>G (p.Asp521Glu)
c.1542T>G (p.Asp514Glu)
c.1650T>G (p.Asp550Glu)
8g.93923548C>ACA371697683PDP1c.1489C>A (p.His497Asn)
c.1564C>A (p.His522Asn)
c.1543C>A (p.His515Asn)
c.1651C>A (p.His551Asn)
8g.93923548C=CA1803280995PDP1c.1489C= (p.His497=)
c.1564C= (p.His522=)
c.1543C= (p.His515=)
c.1651C= (p.His551=)
8g.93923548C>GCA371697684PDP1c.1489C>G (p.His497Asp)
c.1564C>G (p.His522Asp)
c.1543C>G (p.His515Asp)
c.1651C>G (p.His551Asp)
8g.93923548C>TCA371697682PDP1c.1489C>T (p.His497Tyr)
c.1564C>T (p.His522Tyr)
c.1543C>T (p.His515Tyr)
c.1651C>T (p.His551Tyr)
 dbSNP
8g.93923549A>CCA371697685PDP1c.1490A>C (p.His497Pro)
c.1565A>C (p.His522Pro)
c.1544A>C (p.His515Pro)
c.1652A>C (p.His551Pro)
8g.93923549A>GCA371697686PDP1c.1490A>G (p.His497Arg)
c.1565A>G (p.His522Arg)
c.1544A>G (p.His515Arg)
c.1652A>G (p.His551Arg)
8g.93923549A>TCA371697688PDP1c.1490A>T (p.His497Leu)
c.1565A>T (p.His522Leu)
c.1544A>T (p.His515Leu)
c.1652A>T (p.His551Leu)
8g.93923550T>ACA371697690PDP1c.1491T>A (p.His497Gln)
c.1566T>A (p.His522Gln)
c.1545T>A (p.His515Gln)
c.1653T>A (p.His551Gln)
8g.93923550T>CCA462118287PDP1c.1491T>C (p.His497=)
c.1566T>C (p.His522=)
c.1545T>C (p.His515=)
c.1653T>C (p.His551=)
8g.93923550T>GCA371697697PDP1c.1491T>G (p.His497Gln)
c.1566T>G (p.His522Gln)
c.1545T>G (p.His515Gln)
c.1653T>G (p.His551Gln)
8g.93923551G>ACA371697700PDP1c.1492G>A (p.Glu498Lys)
c.1567G>A (p.Glu523Lys)
c.1546G>A (p.Glu516Lys)
c.1654G>A (p.Glu552Lys)
8g.93923551G>CCA371697706PDP1c.1492G>C (p.Glu498Gln)
c.1567G>C (p.Glu523Gln)
c.1546G>C (p.Glu516Gln)
c.1654G>C (p.Glu552Gln)
8g.93923551G>TCA371697709PDP1c.1492G>T (p.Glu498Ter)
c.1567G>T (p.Glu523Ter)
c.1546G>T (p.Glu516Ter)
c.1654G>T (p.Glu552Ter)
8g.93923552A=CA1803280996PDP1c.1493A= (p.Glu498=)
c.1568A= (p.Glu523=)
c.1547A= (p.Glu516=)
c.1655A= (p.Glu552=)
8g.93923552A>CCA371697711PDP1c.1493A>C (p.Glu498Ala)
c.1568A>C (p.Glu523Ala)
c.1547A>C (p.Glu516Ala)
c.1655A>C (p.Glu552Ala)
8g.93923552A>GCA371697713PDP1c.1493A>G (p.Glu498Gly)
c.1568A>G (p.Glu523Gly)
c.1547A>G (p.Glu516Gly)
c.1655A>G (p.Glu552Gly)
 dbSNP gnomAD v2
8g.93923552A>TCA371697715PDP1c.1493A>T (p.Glu498Val)
c.1568A>T (p.Glu523Val)
c.1547A>T (p.Glu516Val)
c.1655A>T (p.Glu552Val)
8g.93923553G>ACA462118288PDP1c.1494G>A (p.Glu498=)
c.1569G>A (p.Glu523=)
c.1548G>A (p.Glu516=)
c.1656G>A (p.Glu552=)
 dbSNP
8g.93923553G>CCA371697716PDP1c.1494G>C (p.Glu498Asp)
c.1569G>C (p.Glu523Asp)
c.1548G>C (p.Glu516Asp)
c.1656G>C (p.Glu552Asp)
8g.93923553G=CA1803280997PDP1c.1494G= (p.Glu498=)
c.1569G= (p.Glu523=)
c.1548G= (p.Glu516=)
c.1656G= (p.Glu552=)
8g.93923553G>TCA371697720PDP1c.1494G>T (p.Glu498Asp)
c.1569G>T (p.Glu523Asp)
c.1548G>T (p.Glu516Asp)
c.1656G>T (p.Glu552Asp)
8g.93923554C>ACA371697724PDP1c.1495C>A (p.Arg499Ser)
c.1570C>A (p.Arg524Ser)
c.1549C>A (p.Arg517Ser)
c.1657C>A (p.Arg553Ser)
8g.93923554C=CA1803280998PDP1c.1495C= (p.Arg499=)
c.1570C= (p.Arg524=)
c.1549C= (p.Arg517=)
c.1657C= (p.Arg553=)
8g.93923554C>GCA371697722PDP1c.1495C>G (p.Arg499Gly)
c.1570C>G (p.Arg524Gly)
c.1549C>G (p.Arg517Gly)
c.1657C>G (p.Arg553Gly)
8g.93923554C>TCA4808840PDP1c.1495C>T (p.Arg499Cys)
c.1570C>T (p.Arg524Cys)
c.1549C>T (p.Arg517Cys)
c.1657C>T (p.Arg553Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923555G>ACA4808841PDP1c.1496G>A (p.Arg499His)
c.1571G>A (p.Arg524His)
c.1550G>A (p.Arg517His)
c.1658G>A (p.Arg553His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.93923555G>CCA371697725PDP1c.1496G>C (p.Arg499Pro)
c.1571G>C (p.Arg524Pro)
c.1550G>C (p.Arg517Pro)
c.1658G>C (p.Arg553Pro)
8g.93923555G=CA1803280999PDP1c.1496G= (p.Arg499=)
c.1571G= (p.Arg524=)
c.1550G= (p.Arg517=)
c.1658G= (p.Arg553=)
8g.93923555G>TCA371697726PDP1c.1496G>T (p.Arg499Leu)
c.1571G>T (p.Arg524Leu)
c.1550G>T (p.Arg517Leu)
c.1658G>T (p.Arg553Leu)
8g.93923556C>ACA462118289PDP1c.1497C>A (p.Arg499=)
c.1572C>A (p.Arg524=)
c.1551C>A (p.Arg517=)
c.1659C>A (p.Arg553=)
8g.93923556C>GCA462118291PDP1c.1497C>G (p.Arg499=)
c.1572C>G (p.Arg524=)
c.1551C>G (p.Arg517=)
c.1659C>G (p.Arg553=)
8g.93923556C>TCA462118290PDP1c.1497C>T (p.Arg499=)
c.1572C>T (p.Arg524=)
c.1551C>T (p.Arg517=)
c.1659C>T (p.Arg553=)
8g.93923557C>ACA371697727PDP1c.1498C>A (p.Leu500Ile)
c.1573C>A (p.Leu525Ile)
c.1552C>A (p.Leu518Ile)
c.1660C>A (p.Leu554Ile)
8g.93923557C>GCA371697728PDP1c.1498C>G (p.Leu500Val)
c.1573C>G (p.Leu525Val)
c.1552C>G (p.Leu518Val)
c.1660C>G (p.Leu554Val)
8g.93923557C>TCA371697731PDP1c.1498C>T (p.Leu500Phe)
c.1573C>T (p.Leu525Phe)
c.1552C>T (p.Leu518Phe)
c.1660C>T (p.Leu554Phe)
 gnomAD v4
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.93923558T>ACA371697733PDP1c.1499T>A (p.Leu500His)
c.1574T>A (p.Leu525His)
c.1553T>A (p.Leu518His)
c.1661T>A (p.Leu554His)
8g.93923558T>CCA371697734PDP1c.1499T>C (p.Leu500Pro)
c.1574T>C (p.Leu525Pro)
c.1553T>C (p.Leu518Pro)
c.1661T>C (p.Leu554Pro)
8g.93923558T>GCA371697736PDP1c.1499T>G (p.Leu500Arg)
c.1574T>G (p.Leu525Arg)
c.1553T>G (p.Leu518Arg)
c.1661T>G (p.Leu554Arg)
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)

Number of alleles fetched