Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.9264051_9264075delCA2643115496H6PDc.1558_1582del (p.Leu520SerfsTer?)
c.1591_1615del (p.Leu531SerfsTer?)
c.1585_1609del (p.Leu529SerfsTer?)
c.490_514del (p.Leu164SerfsTer?)
 gnomAD v4
1g.9264066_9264075delinsCAGCAGCCGGCA1152693623H6PDc.1573_1582delinsCAGCAGCCGG (p.Gln525=)
c.1606_1615delinsCAGCAGCCGG (p.Gln536=)
c.1600_1609delinsCAGCAGCCGG (p.Gln534=)
c.505_514delinsCAGCAGCCGG (p.Gln169=)
1g.9264067A=CA1152693629H6PDc.1574A= (p.Gln525=)
c.1607A= (p.Gln536=)
c.1601A= (p.Gln534=)
c.506A= (p.Gln169=)
1g.9264067A>CCA575348H6PDc.1574A>C (p.Gln525Pro)
c.1607A>C (p.Gln536Pro)
c.1601A>C (p.Gln534Pro)
c.506A>C (p.Gln169Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264067A>GCA338193327H6PDc.1574A>G (p.Gln525Arg)
c.1607A>G (p.Gln536Arg)
c.1601A>G (p.Gln534Arg)
c.506A>G (p.Gln169Arg)
 COSMIC
1g.9264067A>TCA338193328H6PDc.1574A>T (p.Gln525Leu)
c.1607A>T (p.Gln536Leu)
c.1601A>T (p.Gln534Leu)
c.506A>T (p.Gln169Leu)
1g.9264073_9264081delCA575347H6PDc.1580_1588del (p.Pro527_Gln529del)
c.1613_1621del (p.Pro538_Gln540del)
c.1607_1615del (p.Pro536_Gln538del)
c.512_520del (p.Pro171_Gln173del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264067_9264068insCACACCAAACACACCCAACCA2742402684H6PDc.1574_1575insCACACCAAACACACCCAAC (p.Gln525HisfsTer24)
c.1607_1608insCACACCAAACACACCCAAC (p.Gln536HisfsTer24)
c.1601_1602insCACACCAAACACACCCAAC (p.Gln534HisfsTer24)
c.506_507insCACACCAAACACACCCAAC (p.Gln169HisfsTer24)
1g.9264068G>ACA416031981H6PDc.1575G>A (p.Gln525=)
c.1608G>A (p.Gln536=)
c.1602G>A (p.Gln534=)
c.507G>A (p.Gln169=)
 dbSNP gnomAD v2 gnomAD v4
1g.9264068G>CCA338193329H6PDc.1575G>C (p.Gln525His)
c.1608G>C (p.Gln536His)
c.1602G>C (p.Gln534His)
c.507G>C (p.Gln169His)
1g.9264068G=CA1152693634H6PDc.1575G= (p.Gln525=)
c.1608G= (p.Gln536=)
c.1602G= (p.Gln534=)
c.507G= (p.Gln169=)
1g.9264068G>TCA338193330H6PDc.1575G>T (p.Gln525His)
c.1608G>T (p.Gln536His)
c.1602G>T (p.Gln534His)
c.507G>T (p.Gln169His)
1g.9264069C>ACA338193333H6PDc.1576C>A (p.Gln526Lys)
c.1609C>A (p.Gln537Lys)
c.1603C>A (p.Gln535Lys)
c.508C>A (p.Gln170Lys)
1g.9264069C=CA1152693640H6PDc.1576C= (p.Gln526=)
c.1609C= (p.Gln537=)
c.1603C= (p.Gln535=)
c.508C= (p.Gln170=)
1g.9264069C>GCA338193331H6PDc.1576C>G (p.Gln526Glu)
c.1609C>G (p.Gln537Glu)
c.1603C>G (p.Gln535Glu)
c.508C>G (p.Gln170Glu)
1g.9264069C>TCA338193332H6PDc.1576C>T (p.Gln526Ter)
c.1609C>T (p.Gln537Ter)
c.1603C>T (p.Gln535Ter)
c.508C>T (p.Gln170Ter)
 dbSNP gnomAD v4
1g.9264070A>CCA338193334H6PDc.1577A>C (p.Gln526Pro)
c.1610A>C (p.Gln537Pro)
c.1604A>C (p.Gln535Pro)
c.509A>C (p.Gln170Pro)
1g.9264070A>GCA338193335H6PDc.1577A>G (p.Gln526Arg)
c.1610A>G (p.Gln537Arg)
c.1604A>G (p.Gln535Arg)
c.509A>G (p.Gln170Arg)
1g.9264070A>TCA338193336H6PDc.1577A>T (p.Gln526Leu)
c.1610A>T (p.Gln537Leu)
c.1604A>T (p.Gln535Leu)
c.509A>T (p.Gln170Leu)
1g.9264071G>ACA416031989H6PDc.1578G>A (p.Gln526=)
c.1611G>A (p.Gln537=)
c.1605G>A (p.Gln535=)
c.510G>A (p.Gln170=)
 gnomAD v4
1g.9264071G>CCA338193337H6PDc.1578G>C (p.Gln526His)
c.1611G>C (p.Gln537His)
c.1605G>C (p.Gln535His)
c.510G>C (p.Gln170His)
1g.9264071G=CA1152693648H6PDc.1578G= (p.Gln526=)
c.1611G= (p.Gln537=)
c.1605G= (p.Gln535=)
c.510G= (p.Gln170=)
1g.9264071G>TCA575349H6PDc.1578G>T (p.Gln526His)
c.1611G>T (p.Gln537His)
c.1605G>T (p.Gln535His)
c.510G>T (p.Gln170His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264072C>ACA338193338H6PDc.1579C>A (p.Pro527Thr)
c.1612C>A (p.Pro538Thr)
c.1606C>A (p.Pro536Thr)
c.511C>A (p.Pro171Thr)
1g.9264072C>GCA338193339H6PDc.1579C>G (p.Pro527Ala)
c.1612C>G (p.Pro538Ala)
c.1606C>G (p.Pro536Ala)
c.511C>G (p.Pro171Ala)
1g.9264072C>TCA338193340H6PDc.1579C>T (p.Pro527Ser)
c.1612C>T (p.Pro538Ser)
c.1606C>T (p.Pro536Ser)
c.511C>T (p.Pro171Ser)
1g.9264073C>ACA338193341H6PDc.1580C>A (p.Pro527Gln)
c.1613C>A (p.Pro538Gln)
c.1607C>A (p.Pro536Gln)
c.512C>A (p.Pro171Gln)
 gnomAD v4
1g.9264073C=CA1152693653H6PDc.1580C= (p.Pro527=)
c.1613C= (p.Pro538=)
c.1607C= (p.Pro536=)
c.512C= (p.Pro171=)
1g.9264073C>GCA338193342H6PDc.1580C>G (p.Pro527Arg)
c.1613C>G (p.Pro538Arg)
c.1607C>G (p.Pro536Arg)
c.512C>G (p.Pro171Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.9264073C>TCA17751088H6PDc.1580C>T (p.Pro527Leu)
c.1613C>T (p.Pro538Leu)
c.1607C>T (p.Pro536Leu)
c.512C>T (p.Pro171Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264074G>ACA575350H6PDc.1581G>A (p.Pro527=)
c.1614G>A (p.Pro538=)
c.1608G>A (p.Pro536=)
c.513G>A (p.Pro171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264074G>CCA416031995H6PDc.1581G>C (p.Pro527=)
c.1614G>C (p.Pro538=)
c.1608G>C (p.Pro536=)
c.513G>C (p.Pro171=)
1g.9264074G=CA1143457255H6PDc.1581G= (p.Pro527=)
c.1614G= (p.Pro538=)
c.1608G= (p.Pro536=)
c.513G= (p.Pro171=)
1g.9264074G>TCA416031999H6PDc.1581G>T (p.Pro527=)
c.1614G>T (p.Pro538=)
c.1608G>T (p.Pro536=)
c.513G>T (p.Pro171=)
1g.9264075G>ACA338193344H6PDc.1582G>A (p.Glu528Lys)
c.1615G>A (p.Glu539Lys)
c.1609G>A (p.Glu537Lys)
c.514G>A (p.Glu172Lys)
 dbSNP
1g.9264075G>CCA338193345H6PDc.1582G>C (p.Glu528Gln)
c.1615G>C (p.Glu539Gln)
c.1609G>C (p.Glu537Gln)
c.514G>C (p.Glu172Gln)
1g.9264075G=CA1152693660H6PDc.1582G= (p.Glu528=)
c.1615G= (p.Glu539=)
c.1609G= (p.Glu537=)
c.514G= (p.Glu172=)
1g.9264075G>TCA338193343H6PDc.1582G>T (p.Glu528Ter)
c.1615G>T (p.Glu539Ter)
c.1609G>T (p.Glu537Ter)
c.514G>T (p.Glu172Ter)
1g.9264076A=CA1152693665H6PDc.1583A= (p.Glu528=)
c.1616A= (p.Glu539=)
c.1610A= (p.Glu537=)
c.515A= (p.Glu172=)
1g.9264076A>CCA338193347H6PDc.1583A>C (p.Glu528Ala)
c.1616A>C (p.Glu539Ala)
c.1610A>C (p.Glu537Ala)
c.515A>C (p.Glu172Ala)
1g.9264076A>GCA338193346H6PDc.1583A>G (p.Glu528Gly)
c.1616A>G (p.Glu539Gly)
c.1610A>G (p.Glu537Gly)
c.515A>G (p.Glu172Gly)
 dbSNP gnomAD v4
1g.9264076A>TCA338193348H6PDc.1583A>T (p.Glu528Val)
c.1616A>T (p.Glu539Val)
c.1610A>T (p.Glu537Val)
c.515A>T (p.Glu172Val)
1g.9264077G>ACA416032006H6PDc.1584G>A (p.Glu528=)
c.1617G>A (p.Glu539=)
c.1611G>A (p.Glu537=)
c.516G>A (p.Glu172=)
1g.9264077G>CCA338193349H6PDc.1584G>C (p.Glu528Asp)
c.1617G>C (p.Glu539Asp)
c.1611G>C (p.Glu537Asp)
c.516G>C (p.Glu172Asp)
1g.9264077G>TCA338193350H6PDc.1584G>T (p.Glu528Asp)
c.1617G>T (p.Glu539Asp)
c.1611G>T (p.Glu537Asp)
c.516G>T (p.Glu172Asp)
1g.9264078C>ACA338193351H6PDc.1585C>A (p.Gln529Lys)
c.1618C>A (p.Gln540Lys)
c.1612C>A (p.Gln538Lys)
c.517C>A (p.Gln173Lys)
1g.9264078C>GCA338193352H6PDc.1585C>G (p.Gln529Glu)
c.1618C>G (p.Gln540Glu)
c.1612C>G (p.Gln538Glu)
c.517C>G (p.Gln173Glu)
1g.9264078C>TCA338193353H6PDc.1585C>T (p.Gln529Ter)
c.1618C>T (p.Gln540Ter)
c.1612C>T (p.Gln538Ter)
c.517C>T (p.Gln173Ter)
1g.9264079A=CA1152693673H6PDc.1586A= (p.Gln529=)
c.1619A= (p.Gln540=)
c.1613A= (p.Gln538=)
c.518A= (p.Gln173=)
1g.9264079A>CCA338193354H6PDc.1586A>C (p.Gln529Pro)
c.1619A>C (p.Gln540Pro)
c.1613A>C (p.Gln538Pro)
c.518A>C (p.Gln173Pro)
1g.9264079A>GCA338193355H6PDc.1586A>G (p.Gln529Arg)
c.1619A>G (p.Gln540Arg)
c.1613A>G (p.Gln538Arg)
c.518A>G (p.Gln173Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.9264079A>TCA338193356H6PDc.1586A>T (p.Gln529Leu)
c.1619A>T (p.Gln540Leu)
c.1613A>T (p.Gln538Leu)
c.518A>T (p.Gln173Leu)
1g.9264080G>ACA416032016H6PDc.1587G>A (p.Gln529=)
c.1620G>A (p.Gln540=)
c.1614G>A (p.Gln538=)
c.519G>A (p.Gln173=)
1g.9264080G>CCA338193357H6PDc.1587G>C (p.Gln529His)
c.1620G>C (p.Gln540His)
c.1614G>C (p.Gln538His)
c.519G>C (p.Gln173His)
 dbSNP gnomAD v2 gnomAD v4
1g.9264080G=CA1152693679H6PDc.1587G= (p.Gln529=)
c.1620G= (p.Gln540=)
c.1614G= (p.Gln538=)
c.519G= (p.Gln173=)
1g.9264080G>TCA338193358H6PDc.1587G>T (p.Gln529His)
c.1620G>T (p.Gln540His)
c.1614G>T (p.Gln538His)
c.519G>T (p.Gln173His)
 dbSNP gnomAD v4
1g.9264081C>ACA338193359H6PDc.1588C>A (p.Leu530Met)
c.1621C>A (p.Leu541Met)
c.1615C>A (p.Leu539Met)
c.520C>A (p.Leu174Met)
1g.9264081C>GCA338193360H6PDc.1588C>G (p.Leu530Val)
c.1621C>G (p.Leu541Val)
c.1615C>G (p.Leu539Val)
c.520C>G (p.Leu174Val)
1g.9264081C>TCA416032021H6PDc.1588C>T (p.Leu530=)
c.1621C>T (p.Leu541=)
c.1615C>T (p.Leu539=)
c.520C>T (p.Leu174=)
 gnomAD v4
1g.9264082T>ACA338193361H6PDc.1589T>A (p.Leu530Gln)
c.1622T>A (p.Leu541Gln)
c.1616T>A (p.Leu539Gln)
c.521T>A (p.Leu174Gln)
1g.9264082T>CCA338193362H6PDc.1589T>C (p.Leu530Pro)
c.1622T>C (p.Leu541Pro)
c.1616T>C (p.Leu539Pro)
c.521T>C (p.Leu174Pro)
 dbSNP
1g.9264082T>GCA338193363H6PDc.1589T>G (p.Leu530Arg)
c.1622T>G (p.Leu541Arg)
c.1616T>G (p.Leu539Arg)
c.521T>G (p.Leu174Arg)
1g.9264082T=CA1152693686H6PDc.1589T= (p.Leu530=)
c.1622T= (p.Leu541=)
c.1616T= (p.Leu539=)
c.521T= (p.Leu174=)
1g.9264083G>ACA416032025H6PDc.1590G>A (p.Leu530=)
c.1623G>A (p.Leu541=)
c.1617G>A (p.Leu539=)
c.522G>A (p.Leu174=)
 dbSNP gnomAD v3 gnomAD v4
1g.9264083G>CCA416032026H6PDc.1590G>C (p.Leu530=)
c.1623G>C (p.Leu541=)
c.1617G>C (p.Leu539=)
c.522G>C (p.Leu174=)
1g.9264083G=CA1152693694H6PDc.1590G= (p.Leu530=)
c.1623G= (p.Leu541=)
c.1617G= (p.Leu539=)
c.522G= (p.Leu174=)
1g.9264083G>TCA416032027H6PDc.1590G>T (p.Leu530=)
c.1623G>T (p.Leu541=)
c.1617G>T (p.Leu539=)
c.522G>T (p.Leu174=)
1g.9264084G>ACA338193365H6PDc.1591G>A (p.Val531Met)
c.1624G>A (p.Val542Met)
c.1618G>A (p.Val540Met)
c.523G>A (p.Val175Met)
 dbSNP
1g.9264084G>CCA575351H6PDc.1591G>C (p.Val531Leu)
c.1624G>C (p.Val542Leu)
c.1618G>C (p.Val540Leu)
c.523G>C (p.Val175Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264084G=CA1152693697H6PDc.1591G= (p.Val531=)
c.1624G= (p.Val542=)
c.1618G= (p.Val540=)
c.523G= (p.Val175=)
1g.9264084G>TCA338193364H6PDc.1591G>T (p.Val531Leu)
c.1624G>T (p.Val542Leu)
c.1618G>T (p.Val540Leu)
c.523G>T (p.Val175Leu)
 dbSNP
1g.9264085T>ACA338193366H6PDc.1592T>A (p.Val531Glu)
c.1625T>A (p.Val542Glu)
c.1619T>A (p.Val540Glu)
c.524T>A (p.Val175Glu)
1g.9264085T>CCA338193367H6PDc.1592T>C (p.Val531Ala)
c.1625T>C (p.Val542Ala)
c.1619T>C (p.Val540Ala)
c.524T>C (p.Val175Ala)
 gnomAD v4
1g.9264085T>GCA338193368H6PDc.1592T>G (p.Val531Gly)
c.1625T>G (p.Val542Gly)
c.1619T>G (p.Val540Gly)
c.524T>G (p.Val175Gly)
1g.9264085_9264091delinsTGCCAGGCA1152693701H6PDc.1592_1598delinsTGCCAGG (p.Val531=)
c.1625_1631delinsTGCCAGG (p.Val542=)
c.1619_1625delinsTGCCAGG (p.Val540=)
c.524_530delinsTGCCAGG (p.Val175=)
1g.9264086G>ACA17751123H6PDc.1593G>A (p.Val531=)
c.1626G>A (p.Val542=)
c.1620G>A (p.Val540=)
c.525G>A (p.Val175=)
 dbSNP gnomAD v4
1g.9264086G>CCA416032035H6PDc.1593G>C (p.Val531=)
c.1626G>C (p.Val542=)
c.1620G>C (p.Val540=)
c.525G>C (p.Val175=)
1g.9264086G=CA1144165100H6PDc.1593G= (p.Val531=)
c.1626G= (p.Val542=)
c.1620G= (p.Val540=)
c.525G= (p.Val175=)
1g.9264086G>TCA416032037H6PDc.1593G>T (p.Val531=)
c.1626G>T (p.Val542=)
c.1620G>T (p.Val540=)
c.525G>T (p.Val175=)
 dbSNP
1g.9264095_9264100dupCA575352H6PDc.1602_1607dup (p.Pro536_Ala537insGlyPro)
c.1635_1640dup (p.Pro547_Ala548insGlyPro)
c.1629_1634dup (p.Pro545_Ala546insGlyPro)
c.534_539dup (p.Pro180_Ala181insGlyPro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264095_9264100delCA1152693712H6PDc.1602_1607del (p.Gly535_Pro536del)
c.1635_1640del (p.Gly546_Pro547del)
c.1629_1634del (p.Gly544_Pro545del)
c.534_539del (p.Gly179_Pro180del)
 dbSNP
1g.9264087C>ACA17751125H6PDc.1594C>A (p.Pro532Thr)
c.1627C>A (p.Pro543Thr)
c.1621C>A (p.Pro541Thr)
c.526C>A (p.Pro176Thr)
 dbSNP
1g.9264087C=CA1143690824H6PDc.1594C= (p.Pro532=)
c.1627C= (p.Pro543=)
c.1621C= (p.Pro541=)
c.526C= (p.Pro176=)
1g.9264087C>GCA338193370H6PDc.1594C>G (p.Pro532Ala)
c.1627C>G (p.Pro543Ala)
c.1621C>G (p.Pro541Ala)
c.526C>G (p.Pro176Ala)
1g.9264087C>TCA338193369H6PDc.1594C>T (p.Pro532Ser)
c.1627C>T (p.Pro543Ser)
c.1621C>T (p.Pro541Ser)
c.526C>T (p.Pro176Ser)
1g.9264088C>ACA338193371H6PDc.1595C>A (p.Pro532Gln)
c.1628C>A (p.Pro543Gln)
c.1622C>A (p.Pro541Gln)
c.527C>A (p.Pro176Gln)
1g.9264088C>GCA338193372H6PDc.1595C>G (p.Pro532Arg)
c.1628C>G (p.Pro543Arg)
c.1622C>G (p.Pro541Arg)
c.527C>G (p.Pro176Arg)
1g.9264088C>TCA338193373H6PDc.1595C>T (p.Pro532Leu)
c.1628C>T (p.Pro543Leu)
c.1622C>T (p.Pro541Leu)
c.527C>T (p.Pro176Leu)
 gnomAD v4
1g.9264089A>CCA416032041H6PDc.1596A>C (p.Pro532=)
c.1629A>C (p.Pro543=)
c.1623A>C (p.Pro541=)
c.528A>C (p.Pro176=)
1g.9264089A>GCA416032043H6PDc.1596A>G (p.Pro532=)
c.1629A>G (p.Pro543=)
c.1623A>G (p.Pro541=)
c.528A>G (p.Pro176=)
1g.9264089A>TCA416032044H6PDc.1596A>T (p.Pro532=)
c.1629A>T (p.Pro543=)
c.1623A>T (p.Pro541=)
c.528A>T (p.Pro176=)
1g.9264090G>ACA338193374H6PDc.1597G>A (p.Gly533Arg)
c.1630G>A (p.Gly544Arg)
c.1624G>A (p.Gly542Arg)
c.529G>A (p.Gly177Arg)
 gnomAD v4
1g.9264090G>CCA338193375H6PDc.1597G>C (p.Gly533Arg)
c.1630G>C (p.Gly544Arg)
c.1624G>C (p.Gly542Arg)
c.529G>C (p.Gly177Arg)
1g.9264090G>TCA338193376H6PDc.1597G>T (p.Gly533Trp)
c.1630G>T (p.Gly544Trp)
c.1624G>T (p.Gly542Trp)
c.529G>T (p.Gly177Trp)
1g.9264091G>ACA575353H6PDc.1598G>A (p.Gly533Glu)
c.1631G>A (p.Gly544Glu)
c.1625G>A (p.Gly542Glu)
c.530G>A (p.Gly177Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264091G>CCA338193378H6PDc.1598G>C (p.Gly533Ala)
c.1631G>C (p.Gly544Ala)
c.1625G>C (p.Gly542Ala)
c.530G>C (p.Gly177Ala)
1g.9264091G=CA1152693725H6PDc.1598G= (p.Gly533=)
c.1631G= (p.Gly544=)
c.1625G= (p.Gly542=)
c.530G= (p.Gly177=)
1g.9264091G>TCA338193377H6PDc.1598G>T (p.Gly533Val)
c.1631G>T (p.Gly544Val)
c.1625G>T (p.Gly542Val)
c.530G>T (p.Gly177Val)
1g.9264092G>ACA416032049H6PDc.1599G>A (p.Gly533=)
c.1632G>A (p.Gly544=)
c.1626G>A (p.Gly542=)
c.531G>A (p.Gly177=)
 gnomAD v4
1g.9264092G>CCA416032053H6PDc.1599G>C (p.Gly533=)
c.1632G>C (p.Gly544=)
c.1626G>C (p.Gly542=)
c.531G>C (p.Gly177=)
1g.9264092G>TCA416032051H6PDc.1599G>T (p.Gly533=)
c.1632G>T (p.Gly544=)
c.1626G>T (p.Gly542=)
c.531G>T (p.Gly177=)
1g.9264093C>ACA338193379H6PDc.1600C>A (p.Pro534Thr)
c.1633C>A (p.Pro545Thr)
c.1627C>A (p.Pro543Thr)
c.532C>A (p.Pro178Thr)
1g.9264093C>GCA338193380H6PDc.1600C>G (p.Pro534Ala)
c.1633C>G (p.Pro545Ala)
c.1627C>G (p.Pro543Ala)
c.532C>G (p.Pro178Ala)
1g.9264093C>TCA338193381H6PDc.1600C>T (p.Pro534Ser)
c.1633C>T (p.Pro545Ser)
c.1627C>T (p.Pro543Ser)
c.532C>T (p.Pro178Ser)
 gnomAD v4
1g.9264094C>ACA338193382H6PDc.1601C>A (p.Pro534Gln)
c.1634C>A (p.Pro545Gln)
c.1628C>A (p.Pro543Gln)
c.533C>A (p.Pro178Gln)
1g.9264094C>GCA338193383H6PDc.1601C>G (p.Pro534Arg)
c.1634C>G (p.Pro545Arg)
c.1628C>G (p.Pro543Arg)
c.533C>G (p.Pro178Arg)
1g.9264094C>TCA338193384H6PDc.1601C>T (p.Pro534Leu)
c.1634C>T (p.Pro545Leu)
c.1628C>T (p.Pro543Leu)
c.533C>T (p.Pro178Leu)
1g.9264095A>CCA416032057H6PDc.1602A>C (p.Pro534=)
c.1635A>C (p.Pro545=)
c.1629A>C (p.Pro543=)
c.534A>C (p.Pro178=)
1g.9264095A>GCA416032059H6PDc.1602A>G (p.Pro534=)
c.1635A>G (p.Pro545=)
c.1629A>G (p.Pro543=)
c.534A>G (p.Pro178=)
1g.9264095A>TCA416032061H6PDc.1602A>T (p.Pro534=)
c.1635A>T (p.Pro545=)
c.1629A>T (p.Pro543=)
c.534A>T (p.Pro178=)
1g.9264096G>ACA338193385H6PDc.1603G>A (p.Gly535Arg)
c.1636G>A (p.Gly546Arg)
c.1630G>A (p.Gly544Arg)
c.535G>A (p.Gly179Arg)
 gnomAD v4
1g.9264096G>CCA338193386H6PDc.1603G>C (p.Gly535Arg)
c.1636G>C (p.Gly546Arg)
c.1630G>C (p.Gly544Arg)
c.535G>C (p.Gly179Arg)
1g.9264096G>TCA338193387H6PDc.1603G>T (p.Gly535Trp)
c.1636G>T (p.Gly546Trp)
c.1630G>T (p.Gly544Trp)
c.535G>T (p.Gly179Trp)
1g.9264097G>ACA338193388H6PDc.1604G>A (p.Gly535Glu)
c.1637G>A (p.Gly546Glu)
c.1631G>A (p.Gly544Glu)
c.536G>A (p.Gly179Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.9264097G>CCA338193389H6PDc.1604G>C (p.Gly535Ala)
c.1637G>C (p.Gly546Ala)
c.1631G>C (p.Gly544Ala)
c.536G>C (p.Gly179Ala)
1g.9264097G=CA1152693729H6PDc.1604G= (p.Gly535=)
c.1637G= (p.Gly546=)
c.1631G= (p.Gly544=)
c.536G= (p.Gly179=)
1g.9264097G>TCA338193390H6PDc.1604G>T (p.Gly535Val)
c.1637G>T (p.Gly546Val)
c.1631G>T (p.Gly544Val)
c.536G>T (p.Gly179Val)
 COSMIC
1g.9264098G>ACA416032070H6PDc.1605G>A (p.Gly535=)
c.1638G>A (p.Gly546=)
c.1632G>A (p.Gly544=)
c.537G>A (p.Gly179=)
 dbSNP gnomAD v2 gnomAD v4
1g.9264098G>CCA416032071H6PDc.1605G>C (p.Gly535=)
c.1638G>C (p.Gly546=)
c.1632G>C (p.Gly544=)
c.537G>C (p.Gly179=)
1g.9264098G=CA1152693735H6PDc.1605G= (p.Gly535=)
c.1638G= (p.Gly546=)
c.1632G= (p.Gly544=)
c.537G= (p.Gly179=)
1g.9264098G>TCA416032072H6PDc.1605G>T (p.Gly535=)
c.1638G>T (p.Gly546=)
c.1632G>T (p.Gly544=)
c.537G>T (p.Gly179=)
 gnomAD v4
1g.9264098_9264099delinsGCCA1152693737H6PDc.1605_1606delinsGC (p.Gly535=)
c.1638_1639delinsGC (p.Gly546=)
c.1632_1633delinsGC (p.Gly544=)
c.537_538delinsGC (p.Gly179=)
1g.9264099C>ACA338193391H6PDc.1606C>A (p.Pro536Thr)
c.1639C>A (p.Pro547Thr)
c.1633C>A (p.Pro545Thr)
c.538C>A (p.Pro180Thr)
 gnomAD v4
1g.9264099C=CA1141865412H6PDc.1606C= (p.Pro536=)
c.1639C= (p.Pro547=)
c.1633C= (p.Pro545=)
c.538C= (p.Pro180=)
1g.9264099C>GCA338193392H6PDc.1606C>G (p.Pro536Ala)
c.1639C>G (p.Pro547Ala)
c.1633C>G (p.Pro545Ala)
c.538C>G (p.Pro180Ala)
1g.9264099C>TCA575354H6PDc.1606C>T (p.Pro536Ser)
c.1639C>T (p.Pro547Ser)
c.1633C>T (p.Pro545Ser)
c.538C>T (p.Pro180Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264100delCA1152693762H6PDc.1607del (p.Pro536ArgfsTer28)
c.1640del (p.Pro547ArgfsTer28)
c.1634del (p.Pro545ArgfsTer28)
c.539del (p.Pro180ArgfsTer28)
 dbSNP
1g.9264100C>ACA338193393H6PDc.1607C>A (p.Pro536Gln)
c.1640C>A (p.Pro547Gln)
c.1634C>A (p.Pro545Gln)
c.539C>A (p.Pro180Gln)
1g.9264100C=CA1152693768H6PDc.1607C= (p.Pro536=)
c.1640C= (p.Pro547=)
c.1634C= (p.Pro545=)
c.539C= (p.Pro180=)
1g.9264100C>GCA338193394H6PDc.1607C>G (p.Pro536Arg)
c.1640C>G (p.Pro547Arg)
c.1634C>G (p.Pro545Arg)
c.539C>G (p.Pro180Arg)
1g.9264100C>TCA575355H6PDc.1607C>T (p.Pro536Leu)
c.1640C>T (p.Pro547Leu)
c.1634C>T (p.Pro545Leu)
c.539C>T (p.Pro180Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264101G>ACA575356H6PDc.1608G>A (p.Pro536=)
c.1641G>A (p.Pro547=)
c.1635G>A (p.Pro545=)
c.540G>A (p.Pro180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264101G>CCA416032078H6PDc.1608G>C (p.Pro536=)
c.1641G>C (p.Pro547=)
c.1635G>C (p.Pro545=)
c.540G>C (p.Pro180=)
1g.9264101G=CA1143433576H6PDc.1608G= (p.Pro536=)
c.1641G= (p.Pro547=)
c.1635G= (p.Pro545=)
c.540G= (p.Pro180=)
1g.9264101G>TCA416032077H6PDc.1608G>T (p.Pro536=)
c.1641G>T (p.Pro547=)
c.1635G>T (p.Pro545=)
c.540G>T (p.Pro180=)
1g.9264102G>ACA338193397H6PDc.1609G>A (p.Ala537Thr)
c.1642G>A (p.Ala548Thr)
c.1636G>A (p.Ala546Thr)
c.541G>A (p.Ala181Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264102G>CCA338193396H6PDc.1609G>C (p.Ala537Pro)
c.1642G>C (p.Ala548Pro)
c.1636G>C (p.Ala546Pro)
c.541G>C (p.Ala181Pro)
1g.9264102G=CA1152693776H6PDc.1609G= (p.Ala537=)
c.1642G= (p.Ala548=)
c.1636G= (p.Ala546=)
c.541G= (p.Ala181=)
1g.9264102G>TCA338193395H6PDc.1609G>T (p.Ala537Ser)
c.1642G>T (p.Ala548Ser)
c.1636G>T (p.Ala546Ser)
c.541G>T (p.Ala181Ser)
1g.9264102_9264106dupCA2643115497H6PDc.1609_1613dup (p.Met539ProfsTer27)
c.1642_1646dup (p.Met550ProfsTer27)
c.1636_1640dup (p.Met548ProfsTer27)
c.541_545dup (p.Met183ProfsTer27)
 gnomAD v4
1g.9264103C>ACA338193398H6PDc.1610C>A (p.Ala537Asp)
c.1643C>A (p.Ala548Asp)
c.1637C>A (p.Ala546Asp)
c.542C>A (p.Ala181Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.9264103C=CA1152693785H6PDc.1610C= (p.Ala537=)
c.1643C= (p.Ala548=)
c.1637C= (p.Ala546=)
c.542C= (p.Ala181=)
1g.9264103C>GCA338193399H6PDc.1610C>G (p.Ala537Gly)
c.1643C>G (p.Ala548Gly)
c.1637C>G (p.Ala546Gly)
c.542C>G (p.Ala181Gly)
1g.9264103C>TCA338193400H6PDc.1610C>T (p.Ala537Val)
c.1643C>T (p.Ala548Val)
c.1637C>T (p.Ala546Val)
c.542C>T (p.Ala181Val)
 COSMIC
1g.9264104C>ACA416032082H6PDc.1611C>A (p.Ala537=)
c.1644C>A (p.Ala548=)
c.1638C>A (p.Ala546=)
c.543C>A (p.Ala181=)
1g.9264104C>GCA416032083H6PDc.1611C>G (p.Ala537=)
c.1644C>G (p.Ala548=)
c.1638C>G (p.Ala546=)
c.543C>G (p.Ala181=)
1g.9264104C>TCA416032084H6PDc.1611C>T (p.Ala537=)
c.1644C>T (p.Ala548=)
c.1638C>T (p.Ala546=)
c.543C>T (p.Ala181=)
1g.9264105C>ACA338193401H6PDc.1612C>A (p.Pro538Thr)
c.1645C>A (p.Pro549Thr)
c.1639C>A (p.Pro547Thr)
c.544C>A (p.Pro182Thr)
1g.9264105C>GCA338193402H6PDc.1612C>G (p.Pro538Ala)
c.1645C>G (p.Pro549Ala)
c.1639C>G (p.Pro547Ala)
c.544C>G (p.Pro182Ala)
1g.9264105C>TCA338193403H6PDc.1612C>T (p.Pro538Ser)
c.1645C>T (p.Pro549Ser)
c.1639C>T (p.Pro547Ser)
c.544C>T (p.Pro182Ser)
1g.9264106C>ACA338193404H6PDc.1613C>A (p.Pro538Gln)
c.1646C>A (p.Pro549Gln)
c.1640C>A (p.Pro547Gln)
c.545C>A (p.Pro182Gln)
1g.9264106C=CA1152693794H6PDc.1613C= (p.Pro538=)
c.1646C= (p.Pro549=)
c.1640C= (p.Pro547=)
c.545C= (p.Pro182=)
1g.9264106C>GCA575357H6PDc.1613C>G (p.Pro538Arg)
c.1646C>G (p.Pro549Arg)
c.1640C>G (p.Pro547Arg)
c.545C>G (p.Pro182Arg)
 dbSNP ExAC gnomAD v2
1g.9264106C>TCA338193405H6PDc.1613C>T (p.Pro538Leu)
c.1646C>T (p.Pro549Leu)
c.1640C>T (p.Pro547Leu)
c.545C>T (p.Pro182Leu)
 gnomAD v4
1g.9264107A=CA1152693801H6PDc.1614A= (p.Pro538=)
c.1647A= (p.Pro549=)
c.1641A= (p.Pro547=)
c.546A= (p.Pro182=)
1g.9264107A>CCA416032089H6PDc.1614A>C (p.Pro538=)
c.1647A>C (p.Pro549=)
c.1641A>C (p.Pro547=)
c.546A>C (p.Pro182=)
1g.9264107A>GCA575358H6PDc.1614A>G (p.Pro538=)
c.1647A>G (p.Pro549=)
c.1641A>G (p.Pro547=)
c.546A>G (p.Pro182=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264107A>TCA416032090H6PDc.1614A>T (p.Pro538=)
c.1647A>T (p.Pro549=)
c.1641A>T (p.Pro547=)
c.546A>T (p.Pro182=)
1g.9264108A=CA1141734414H6PDc.1615A= (p.Met539=)
c.1648A= (p.Met550=)
c.1642A= (p.Met548=)
c.547A= (p.Met183=)
1g.9264108A>CCA17751156H6PDc.1615A>C (p.Met539Leu)
c.1648A>C (p.Met550Leu)
c.1642A>C (p.Met548Leu)
c.547A>C (p.Met183Leu)
 dbSNP
1g.9264108A>GCA575359H6PDc.1615A>G (p.Met539Val)
c.1648A>G (p.Met550Val)
c.1642A>G (p.Met548Val)
c.547A>G (p.Met183Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264108A>TCA338193406H6PDc.1615A>T (p.Met539Leu)
c.1648A>T (p.Met550Leu)
c.1642A>T (p.Met548Leu)
c.547A>T (p.Met183Leu)
1g.9264109T>ACA338193407H6PDc.1616T>A (p.Met539Lys)
c.1649T>A (p.Met550Lys)
c.1643T>A (p.Met548Lys)
c.548T>A (p.Met183Lys)
1g.9264109T>CCA338193408H6PDc.1616T>C (p.Met539Thr)
c.1649T>C (p.Met550Thr)
c.1643T>C (p.Met548Thr)
c.548T>C (p.Met183Thr)
 gnomAD v4
1g.9264109T>GCA338193409H6PDc.1616T>G (p.Met539Arg)
c.1649T>G (p.Met550Arg)
c.1643T>G (p.Met548Arg)
c.548T>G (p.Met183Arg)
1g.9264109_9264110delinsTGCA1152693809H6PDc.1616_1617delinsTG (p.Met539=)
c.1649_1650delinsTG (p.Met550=)
c.1643_1644delinsTG (p.Met548=)
c.548_549delinsTG (p.Met183=)
1g.9264110delCA575360H6PDc.1617del (p.Met539IlefsTer25)
c.1650del (p.Met550IlefsTer25)
c.1644del (p.Met548IlefsTer25)
c.549del (p.Met183IlefsTer25)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264110G>ACA575361H6PDc.1617G>A (p.Met539Ile)
c.1650G>A (p.Met550Ile)
c.1644G>A (p.Met548Ile)
c.549G>A (p.Met183Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264110G>CCA338193410H6PDc.1617G>C (p.Met539Ile)
c.1650G>C (p.Met550Ile)
c.1644G>C (p.Met548Ile)
c.549G>C (p.Met183Ile)
1g.9264110G=CA1152693820H6PDc.1617G= (p.Met539=)
c.1650G= (p.Met550=)
c.1644G= (p.Met548=)
c.549G= (p.Met183=)
1g.9264110G>TCA338193411H6PDc.1617G>T (p.Met539Ile)
c.1650G>T (p.Met550Ile)
c.1644G>T (p.Met548Ile)
c.549G>T (p.Met183Ile)
1g.9264111C>ACA338193412H6PDc.1618C>A (p.Pro540Thr)
c.1651C>A (p.Pro551Thr)
c.1645C>A (p.Pro549Thr)
c.550C>A (p.Pro184Thr)
1g.9264111C>GCA338193413H6PDc.1618C>G (p.Pro540Ala)
c.1651C>G (p.Pro551Ala)
c.1645C>G (p.Pro549Ala)
c.550C>G (p.Pro184Ala)
1g.9264111C>TCA338193414H6PDc.1618C>T (p.Pro540Ser)
c.1651C>T (p.Pro551Ser)
c.1645C>T (p.Pro549Ser)
c.550C>T (p.Pro184Ser)
1g.9264112C>ACA338193417H6PDc.1619C>A (p.Pro540His)
c.1652C>A (p.Pro551His)
c.1646C>A (p.Pro549His)
c.551C>A (p.Pro184His)
1g.9264112C>GCA338193415H6PDc.1619C>G (p.Pro540Arg)
c.1652C>G (p.Pro551Arg)
c.1646C>G (p.Pro549Arg)
c.551C>G (p.Pro184Arg)
1g.9264112C>TCA338193416H6PDc.1619C>T (p.Pro540Leu)
c.1652C>T (p.Pro551Leu)
c.1646C>T (p.Pro549Leu)
c.551C>T (p.Pro184Leu)
1g.9264113C>ACA416032094H6PDc.1620C>A (p.Pro540=)
c.1653C>A (p.Pro551=)
c.1647C>A (p.Pro549=)
c.552C>A (p.Pro184=)
1g.9264113C>GCA416032095H6PDc.1620C>G (p.Pro540=)
c.1653C>G (p.Pro551=)
c.1647C>G (p.Pro549=)
c.552C>G (p.Pro184=)
1g.9264113C>TCA416032096H6PDc.1620C>T (p.Pro540=)
c.1653C>T (p.Pro551=)
c.1647C>T (p.Pro549=)
c.552C>T (p.Pro184=)
1g.9264114A=CA1152693829H6PDc.1621A= (p.Ser541=)
c.1654A= (p.Ser552=)
c.1648A= (p.Ser550=)
c.553A= (p.Ser185=)
1g.9264114A>CCA338193418H6PDc.1621A>C (p.Ser541Arg)
c.1654A>C (p.Ser552Arg)
c.1648A>C (p.Ser550Arg)
c.553A>C (p.Ser185Arg)
1g.9264114A>GCA338193419H6PDc.1621A>G (p.Ser541Gly)
c.1654A>G (p.Ser552Gly)
c.1648A>G (p.Ser550Gly)
c.553A>G (p.Ser185Gly)
1g.9264114A>TCA338193420H6PDc.1621A>T (p.Ser541Cys)
c.1654A>T (p.Ser552Cys)
c.1648A>T (p.Ser550Cys)
c.553A>T (p.Ser185Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.9264115G>ACA338193421H6PDc.1622G>A (p.Ser541Asn)
c.1655G>A (p.Ser552Asn)
c.1649G>A (p.Ser550Asn)
c.554G>A (p.Ser185Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.9264115G>CCA338193422H6PDc.1622G>C (p.Ser541Thr)
c.1655G>C (p.Ser552Thr)
c.1649G>C (p.Ser550Thr)
c.554G>C (p.Ser185Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.9264115G=CA1152693846H6PDc.1622G= (p.Ser541=)
c.1655G= (p.Ser552=)
c.1649G= (p.Ser550=)
c.554G= (p.Ser185=)
1g.9264115G>TCA338193423H6PDc.1622G>T (p.Ser541Ile)
c.1655G>T (p.Ser552Ile)
c.1649G>T (p.Ser550Ile)
c.554G>T (p.Ser185Ile)
1g.9264116T>ACA338193424H6PDc.1623T>A (p.Ser541Arg)
c.1656T>A (p.Ser552Arg)
c.1650T>A (p.Ser550Arg)
c.555T>A (p.Ser185Arg)
1g.9264116T>CCA416032100H6PDc.1623T>C (p.Ser541=)
c.1656T>C (p.Ser552=)
c.1650T>C (p.Ser550=)
c.555T>C (p.Ser185=)
1g.9264116T>GCA338193425H6PDc.1623T>G (p.Ser541Arg)
c.1656T>G (p.Ser552Arg)
c.1650T>G (p.Ser550Arg)
c.555T>G (p.Ser185Arg)
1g.9264117G>ACA338193426H6PDc.1624G>A (p.Asp542Asn)
c.1657G>A (p.Asp553Asn)
c.1651G>A (p.Asp551Asn)
c.556G>A (p.Asp186Asn)
1g.9264117G>CCA338193427H6PDc.1624G>C (p.Asp542His)
c.1657G>C (p.Asp553His)
c.1651G>C (p.Asp551His)
c.556G>C (p.Asp186His)
1g.9264117G>TCA338193428H6PDc.1624G>T (p.Asp542Tyr)
c.1657G>T (p.Asp553Tyr)
c.1651G>T (p.Asp551Tyr)
c.556G>T (p.Asp186Tyr)
1g.9264118A=CA1152693849H6PDc.1625A= (p.Asp542=)
c.1658A= (p.Asp553=)
c.1652A= (p.Asp551=)
c.557A= (p.Asp186=)
1g.9264118A>CCA17751163H6PDc.1625A>C (p.Asp542Ala)
c.1658A>C (p.Asp553Ala)
c.1652A>C (p.Asp551Ala)
c.557A>C (p.Asp186Ala)
 dbSNP
1g.9264118A>GCA338193430H6PDc.1625A>G (p.Asp542Gly)
c.1658A>G (p.Asp553Gly)
c.1652A>G (p.Asp551Gly)
c.557A>G (p.Asp186Gly)
1g.9264118A>TCA338193429H6PDc.1625A>T (p.Asp542Val)
c.1658A>T (p.Asp553Val)
c.1652A>T (p.Asp551Val)
c.557A>T (p.Asp186Val)
1g.9264119C>ACA338193431H6PDc.1626C>A (p.Asp542Glu)
c.1659C>A (p.Asp553Glu)
c.1653C>A (p.Asp551Glu)
c.558C>A (p.Asp186Glu)
1g.9264119C>GCA338193432H6PDc.1626C>G (p.Asp542Glu)
c.1659C>G (p.Asp553Glu)
c.1653C>G (p.Asp551Glu)
c.558C>G (p.Asp186Glu)
1g.9264119C>TCA416032104H6PDc.1626C>T (p.Asp542=)
c.1659C>T (p.Asp553=)
c.1653C>T (p.Asp551=)
c.558C>T (p.Asp186=)
1g.9264120T>ACA338193433H6PDc.1627T>A (p.Phe543Ile)
c.1660T>A (p.Phe554Ile)
c.1654T>A (p.Phe552Ile)
c.559T>A (p.Phe187Ile)
 gnomAD v4
1g.9264120T>CCA338193434H6PDc.1627T>C (p.Phe543Leu)
c.1660T>C (p.Phe554Leu)
c.1654T>C (p.Phe552Leu)
c.559T>C (p.Phe187Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.9264120T>GCA338193435H6PDc.1627T>G (p.Phe543Val)
c.1660T>G (p.Phe554Val)
c.1654T>G (p.Phe552Val)
c.559T>G (p.Phe187Val)
1g.9264120T=CA1152693852H6PDc.1627T= (p.Phe543=)
c.1660T= (p.Phe554=)
c.1654T= (p.Phe552=)
c.559T= (p.Phe187=)
1g.9264121T>ACA338193436H6PDc.1628T>A (p.Phe543Tyr)
c.1661T>A (p.Phe554Tyr)
c.1655T>A (p.Phe552Tyr)
c.560T>A (p.Phe187Tyr)
1g.9264121T>CCA338193437H6PDc.1628T>C (p.Phe543Ser)
c.1661T>C (p.Phe554Ser)
c.1655T>C (p.Phe552Ser)
c.560T>C (p.Phe187Ser)
1g.9264121T>GCA338193438H6PDc.1628T>G (p.Phe543Cys)
c.1661T>G (p.Phe554Cys)
c.1655T>G (p.Phe552Cys)
c.560T>G (p.Phe187Cys)
1g.9264122C>ACA338193439H6PDc.1629C>A (p.Phe543Leu)
c.1662C>A (p.Phe554Leu)
c.1656C>A (p.Phe552Leu)
c.561C>A (p.Phe187Leu)
1g.9264122C>GCA338193440H6PDc.1629C>G (p.Phe543Leu)
c.1662C>G (p.Phe554Leu)
c.1656C>G (p.Phe552Leu)
c.561C>G (p.Phe187Leu)
1g.9264122C>TCA416032108H6PDc.1629C>T (p.Phe543=)
c.1662C>T (p.Phe554=)
c.1656C>T (p.Phe552=)
c.561C>T (p.Phe187=)
 gnomAD v4
1g.9264123C>ACA338193441H6PDc.1630C>A (p.Gln544Lys)
c.1663C>A (p.Gln555Lys)
c.1657C>A (p.Gln553Lys)
c.562C>A (p.Gln188Lys)
1g.9264123C>GCA338193442H6PDc.1630C>G (p.Gln544Glu)
c.1663C>G (p.Gln555Glu)
c.1657C>G (p.Gln553Glu)
c.562C>G (p.Gln188Glu)
1g.9264123C>TCA338193443H6PDc.1630C>T (p.Gln544Ter)
c.1663C>T (p.Gln555Ter)
c.1657C>T (p.Gln553Ter)
c.562C>T (p.Gln188Ter)
 gnomAD v4
1g.9264124A=CA1152693858H6PDc.1631A= (p.Gln544=)
c.1664A= (p.Gln555=)
c.1658A= (p.Gln553=)
c.563A= (p.Gln188=)
1g.9264124A>CCA338193446H6PDc.1631A>C (p.Gln544Pro)
c.1664A>C (p.Gln555Pro)
c.1658A>C (p.Gln553Pro)
c.563A>C (p.Gln188Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.9264124A>GCA338193445H6PDc.1631A>G (p.Gln544Arg)
c.1664A>G (p.Gln555Arg)
c.1658A>G (p.Gln553Arg)
c.563A>G (p.Gln188Arg)
1g.9264124A>TCA338193444H6PDc.1631A>T (p.Gln544Leu)
c.1664A>T (p.Gln555Leu)
c.1658A>T (p.Gln553Leu)
c.563A>T (p.Gln188Leu)
1g.9264125G>ACA575362H6PDc.1632G>A (p.Gln544=)
c.1665G>A (p.Gln555=)
c.1659G>A (p.Gln553=)
c.564G>A (p.Gln188=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264125G>CCA338193447H6PDc.1632G>C (p.Gln544His)
c.1665G>C (p.Gln555His)
c.1659G>C (p.Gln553His)
c.564G>C (p.Gln188His)
1g.9264125G=CA1149068233H6PDc.1632G= (p.Gln544=)
c.1665G= (p.Gln555=)
c.1659G= (p.Gln553=)
c.564G= (p.Gln188=)
1g.9264125G>TCA338193448H6PDc.1632G>T (p.Gln544His)
c.1665G>T (p.Gln555His)
c.1659G>T (p.Gln553His)
c.564G>T (p.Gln188His)
1g.9264126G>ACA338193449H6PDc.1633G>A (p.Val545Ile)
c.1666G>A (p.Val556Ile)
c.1660G>A (p.Val554Ile)
c.565G>A (p.Val189Ile)
1g.9264126G>CCA338193450H6PDc.1633G>C (p.Val545Leu)
c.1666G>C (p.Val556Leu)
c.1660G>C (p.Val554Leu)
c.565G>C (p.Val189Leu)
1g.9264126G>TCA338193451H6PDc.1633G>T (p.Val545Phe)
c.1666G>T (p.Val556Phe)
c.1660G>T (p.Val554Phe)
c.565G>T (p.Val189Phe)
1g.9264127T>ACA338193452H6PDc.1634T>A (p.Val545Asp)
c.1667T>A (p.Val556Asp)
c.1661T>A (p.Val554Asp)
c.566T>A (p.Val189Asp)
1g.9264127T>CCA575363H6PDc.1634T>C (p.Val545Ala)
c.1667T>C (p.Val556Ala)
c.1661T>C (p.Val554Ala)
c.566T>C (p.Val189Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264127T>GCA338193453H6PDc.1634T>G (p.Val545Gly)
c.1667T>G (p.Val556Gly)
c.1661T>G (p.Val554Gly)
c.566T>G (p.Val189Gly)
1g.9264127T=CA1143883542H6PDc.1634T= (p.Val545=)
c.1667T= (p.Val556=)
c.1661T= (p.Val554=)
c.566T= (p.Val189=)
1g.9264128C>ACA416032112H6PDc.1635C>A (p.Val545=)
c.1668C>A (p.Val556=)
c.1662C>A (p.Val554=)
c.567C>A (p.Val189=)
 dbSNP gnomAD v3 gnomAD v4
1g.9264128C=CA1143537718H6PDc.1635C= (p.Val545=)
c.1668C= (p.Val556=)
c.1662C= (p.Val554=)
c.567C= (p.Val189=)
1g.9264128C>GCA416032113H6PDc.1635C>G (p.Val545=)
c.1668C>G (p.Val556=)
c.1662C>G (p.Val554=)
c.567C>G (p.Val189=)
1g.9264128C>TCA17751166H6PDc.1635C>T (p.Val545=)
c.1668C>T (p.Val556=)
c.1662C>T (p.Val554=)
c.567C>T (p.Val189=)
 dbSNP gnomAD v2 gnomAD v4
1g.9264128_9264129delinsTTCA645511899H6PDc.1635_1636delinsTT (p.Leu546Phe)
c.1668_1669delinsTT (p.Leu557Phe)
c.1662_1663delinsTT (p.Leu555Phe)
c.567_568delinsTT (p.Leu190Phe)
 COSMIC
1g.9264129C>ACA338193454H6PDc.1636C>A (p.Leu546Ile)
c.1669C>A (p.Leu557Ile)
c.1663C>A (p.Leu555Ile)
c.568C>A (p.Leu190Ile)
1g.9264129C>GCA338193455H6PDc.1636C>G (p.Leu546Val)
c.1669C>G (p.Leu557Val)
c.1663C>G (p.Leu555Val)
c.568C>G (p.Leu190Val)
1g.9264129C>TCA338193456H6PDc.1636C>T (p.Leu546Phe)
c.1669C>T (p.Leu557Phe)
c.1663C>T (p.Leu555Phe)
c.568C>T (p.Leu190Phe)
1g.9264130T>ACA338193457H6PDc.1637T>A (p.Leu546His)
c.1670T>A (p.Leu557His)
c.1664T>A (p.Leu555His)
c.569T>A (p.Leu190His)
1g.9264130T>CCA338193459H6PDc.1637T>C (p.Leu546Pro)
c.1670T>C (p.Leu557Pro)
c.1664T>C (p.Leu555Pro)
c.569T>C (p.Leu190Pro)
1g.9264130T>GCA338193458H6PDc.1637T>G (p.Leu546Arg)
c.1670T>G (p.Leu557Arg)
c.1664T>G (p.Leu555Arg)
c.569T>G (p.Leu190Arg)
1g.9264131C>ACA416031256H6PDc.1638C>A (p.Leu546=)
c.1671C>A (p.Leu557=)
c.1665C>A (p.Leu555=)
c.570C>A (p.Leu190=)
1g.9264131C>GCA416031260H6PDc.1638C>G (p.Leu546=)
c.1671C>G (p.Leu557=)
c.1665C>G (p.Leu555=)
c.570C>G (p.Leu190=)
1g.9264131C>TCA416031262H6PDc.1638C>T (p.Leu546=)
c.1671C>T (p.Leu557=)
c.1665C>T (p.Leu555=)
c.570C>T (p.Leu190=)
1g.9264132A>CCA416031263H6PDc.1639A>C (p.Arg547=)
c.1672A>C (p.Arg558=)
c.1666A>C (p.Arg556=)
c.571A>C (p.Arg191=)
1g.9264132A>GCA338193460H6PDc.1639A>G (p.Arg547Gly)
c.1672A>G (p.Arg558Gly)
c.1666A>G (p.Arg556Gly)
c.571A>G (p.Arg191Gly)
1g.9264132A>TCA338193461H6PDc.1639A>T (p.Arg547Trp)
c.1672A>T (p.Arg558Trp)
c.1666A>T (p.Arg556Trp)
c.571A>T (p.Arg191Trp)
1g.9264133G>ACA575364H6PDc.1640G>A (p.Arg547Lys)
c.1673G>A (p.Arg558Lys)
c.1667G>A (p.Arg556Lys)
c.572G>A (p.Arg191Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264133G>CCA338193462H6PDc.1640G>C (p.Arg547Thr)
c.1673G>C (p.Arg558Thr)
c.1667G>C (p.Arg556Thr)
c.572G>C (p.Arg191Thr)
1g.9264133G=CA1152693876H6PDc.1640G= (p.Arg547=)
c.1673G= (p.Arg558=)
c.1667G= (p.Arg556=)
c.572G= (p.Arg191=)
1g.9264133G>TCA338193463H6PDc.1640G>T (p.Arg547Met)
c.1673G>T (p.Arg558Met)
c.1667G>T (p.Arg556Met)
c.572G>T (p.Arg191Met)
1g.9264135delCA2574201609H6PDc.1642del (p.Ala548ProfsTer16)
c.1675del (p.Ala559ProfsTer16)
c.1669del (p.Ala557ProfsTer16)
c.574del (p.Ala192ProfsTer16)
 gnomAD v4
1g.9264134G>ACA575365H6PDc.1641G>A (p.Arg547=)
c.1674G>A (p.Arg558=)
c.1668G>A (p.Arg556=)
c.573G>A (p.Arg191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264134G>CCA338193464H6PDc.1641G>C (p.Arg547Ser)
c.1674G>C (p.Arg558Ser)
c.1668G>C (p.Arg556Ser)
c.573G>C (p.Arg191Ser)
1g.9264134G=CA1147627724H6PDc.1641G= (p.Arg547=)
c.1674G= (p.Arg558=)
c.1668G= (p.Arg556=)
c.573G= (p.Arg191=)
1g.9264134G>TCA338193465H6PDc.1641G>T (p.Arg547Ser)
c.1674G>T (p.Arg558Ser)
c.1668G>T (p.Arg556Ser)
c.573G>T (p.Arg191Ser)
1g.9264135G>ACA338193466H6PDc.1642G>A (p.Ala548Thr)
c.1675G>A (p.Ala559Thr)
c.1669G>A (p.Ala557Thr)
c.574G>A (p.Ala192Thr)
 dbSNP gnomAD v2
1g.9264135G>CCA338193467H6PDc.1642G>C (p.Ala548Pro)
c.1675G>C (p.Ala559Pro)
c.1669G>C (p.Ala557Pro)
c.574G>C (p.Ala192Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.9264135G=CA1152693886H6PDc.1642G= (p.Ala548=)
c.1675G= (p.Ala559=)
c.1669G= (p.Ala557=)
c.574G= (p.Ala192=)
1g.9264135G>TCA575366H6PDc.1642G>T (p.Ala548Ser)
c.1675G>T (p.Ala559Ser)
c.1669G>T (p.Ala557Ser)
c.574G>T (p.Ala192Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264136C>ACA338193468H6PDc.1643C>A (p.Ala548Asp)
c.1676C>A (p.Ala559Asp)
c.1670C>A (p.Ala557Asp)
c.575C>A (p.Ala192Asp)
1g.9264136C=CA1152693896H6PDc.1643C= (p.Ala548=)
c.1676C= (p.Ala559=)
c.1670C= (p.Ala557=)
c.575C= (p.Ala192=)
1g.9264136C>GCA338193469H6PDc.1643C>G (p.Ala548Gly)
c.1676C>G (p.Ala559Gly)
c.1670C>G (p.Ala557Gly)
c.575C>G (p.Ala192Gly)
1g.9264136C>TCA338193470H6PDc.1643C>T (p.Ala548Val)
c.1676C>T (p.Ala559Val)
c.1670C>T (p.Ala557Val)
c.575C>T (p.Ala192Val)
 dbSNP gnomAD v3 gnomAD v4
1g.9264137C>ACA416031272H6PDc.1644C>A (p.Ala548=)
c.1677C>A (p.Ala559=)
c.1671C>A (p.Ala557=)
c.576C>A (p.Ala192=)
1g.9264137C>GCA416031273H6PDc.1644C>G (p.Ala548=)
c.1677C>G (p.Ala559=)
c.1671C>G (p.Ala557=)
c.576C>G (p.Ala192=)
1g.9264137C>TCA416031274H6PDc.1644C>T (p.Ala548=)
c.1677C>T (p.Ala559=)
c.1671C>T (p.Ala557=)
c.576C>T (p.Ala192=)
1g.9264138A>CCA338193472H6PDc.1645A>C (p.Lys549Gln)
c.1678A>C (p.Lys560Gln)
c.1672A>C (p.Lys558Gln)
c.577A>C (p.Lys193Gln)
1g.9264138A>GCA338193473H6PDc.1645A>G (p.Lys549Glu)
c.1678A>G (p.Lys560Glu)
c.1672A>G (p.Lys558Glu)
c.577A>G (p.Lys193Glu)
 gnomAD v4
1g.9264138A>TCA338193471H6PDc.1645A>T (p.Lys549Ter)
c.1678A>T (p.Lys560Ter)
c.1672A>T (p.Lys558Ter)
c.577A>T (p.Lys193Ter)
1g.9264139A=CA1152693902H6PDc.1646A= (p.Lys549=)
c.1679A= (p.Lys560=)
c.1673A= (p.Lys558=)
c.578A= (p.Lys193=)
1g.9264139A>CCA338193474H6PDc.1646A>C (p.Lys549Thr)
c.1679A>C (p.Lys560Thr)
c.1673A>C (p.Lys558Thr)
c.578A>C (p.Lys193Thr)
1g.9264139A>GCA338193475H6PDc.1646A>G (p.Lys549Arg)
c.1679A>G (p.Lys560Arg)
c.1673A>G (p.Lys558Arg)
c.578A>G (p.Lys193Arg)
1g.9264139A>TCA338193476H6PDc.1646A>T (p.Lys549Met)
c.1679A>T (p.Lys560Met)
c.1673A>T (p.Lys558Met)
c.578A>T (p.Lys193Met)
 dbSNP
1g.9264140G>ACA416031277H6PDc.1647G>A (p.Lys549=)
c.1680G>A (p.Lys560=)
c.1674G>A (p.Lys558=)
c.579G>A (p.Lys193=)
1g.9264140G>CCA338193477H6PDc.1647G>C (p.Lys549Asn)
c.1680G>C (p.Lys560Asn)
c.1674G>C (p.Lys558Asn)
c.579G>C (p.Lys193Asn)
1g.9264140G>TCA338193478H6PDc.1647G>T (p.Lys549Asn)
c.1680G>T (p.Lys560Asn)
c.1674G>T (p.Lys558Asn)
c.579G>T (p.Lys193Asn)
1g.9264141T>ACA338193481H6PDc.1648T>A (p.Tyr550Asn)
c.1681T>A (p.Tyr561Asn)
c.1675T>A (p.Tyr559Asn)
c.580T>A (p.Tyr194Asn)
1g.9264141T>CCA338193479H6PDc.1648T>C (p.Tyr550His)
c.1681T>C (p.Tyr561His)
c.1675T>C (p.Tyr559His)
c.580T>C (p.Tyr194His)
1g.9264141T>GCA338193480H6PDc.1648T>G (p.Tyr550Asp)
c.1681T>G (p.Tyr561Asp)
c.1675T>G (p.Tyr559Asp)
c.580T>G (p.Tyr194Asp)
1g.9264142A>CCA338193482H6PDc.1649A>C (p.Tyr550Ser)
c.1682A>C (p.Tyr561Ser)
c.1676A>C (p.Tyr559Ser)
c.581A>C (p.Tyr194Ser)
1g.9264142A>GCA338193483H6PDc.1649A>G (p.Tyr550Cys)
c.1682A>G (p.Tyr561Cys)
c.1676A>G (p.Tyr559Cys)
c.581A>G (p.Tyr194Cys)
1g.9264142A>TCA338193484H6PDc.1649A>T (p.Tyr550Phe)
c.1682A>T (p.Tyr561Phe)
c.1676A>T (p.Tyr559Phe)
c.581A>T (p.Tyr194Phe)
 gnomAD v4
1g.9264143C>ACA338193485H6PDc.1650C>A (p.Tyr550Ter)
c.1683C>A (p.Tyr561Ter)
c.1677C>A (p.Tyr559Ter)
c.582C>A (p.Tyr194Ter)
1g.9264143C=CA1152693907H6PDc.1650C= (p.Tyr550=)
c.1683C= (p.Tyr561=)
c.1677C= (p.Tyr559=)
c.582C= (p.Tyr194=)
1g.9264143C>GCA338193486H6PDc.1650C>G (p.Tyr550Ter)
c.1683C>G (p.Tyr561Ter)
c.1677C>G (p.Tyr559Ter)
c.582C>G (p.Tyr194Ter)
1g.9264143C>TCA575367H6PDc.1650C>T (p.Tyr550=)
c.1683C>T (p.Tyr561=)
c.1677C>T (p.Tyr559=)
c.582C>T (p.Tyr194=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264144C>ACA17751188H6PDc.1651C>A (p.Arg551=)
c.1684C>A (p.Arg562=)
c.1678C>A (p.Arg560=)
c.583C>A (p.Arg195=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264144C=CA1152693914H6PDc.1651C= (p.Arg551=)
c.1684C= (p.Arg562=)
c.1678C= (p.Arg560=)
c.583C= (p.Arg195=)
1g.9264144C>GCA338193487H6PDc.1651C>G (p.Arg551Gly)
c.1684C>G (p.Arg562Gly)
c.1678C>G (p.Arg560Gly)
c.583C>G (p.Arg195Gly)
1g.9264144C>TCA575368H6PDc.1651C>T (p.Arg551Ter)
c.1684C>T (p.Arg562Ter)
c.1678C>T (p.Arg560Ter)
c.583C>T (p.Arg195Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264145G>ACA575369H6PDc.1652G>A (p.Arg551Gln)
c.1685G>A (p.Arg562Gln)
c.1679G>A (p.Arg560Gln)
c.584G>A (p.Arg195Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264145G>CCA338193488H6PDc.1652G>C (p.Arg551Pro)
c.1685G>C (p.Arg562Pro)
c.1679G>C (p.Arg560Pro)
c.584G>C (p.Arg195Pro)
1g.9264145G=CA1144174956H6PDc.1652G= (p.Arg551=)
c.1685G= (p.Arg562=)
c.1679G= (p.Arg560=)
c.584G= (p.Arg195=)
1g.9264145G>TCA338193489H6PDc.1652G>T (p.Arg551Leu)
c.1685G>T (p.Arg562Leu)
c.1679G>T (p.Arg560Leu)
c.584G>T (p.Arg195Leu)
1g.9264150_9264151delCA2695348717H6PDc.1657_1658del (p.Ser553ProfsTer13)
c.1690_1691del (p.Ser564ProfsTer13)
c.1684_1685del (p.Ser562ProfsTer13)
c.589_590del (p.Ser197ProfsTer13)
 dbSNP
1g.9264146A=CA1152693919H6PDc.1653A= (p.Arg551=)
c.1686A= (p.Arg562=)
c.1680A= (p.Arg560=)
c.585A= (p.Arg195=)
1g.9264146A>CCA416031298H6PDc.1653A>C (p.Arg551=)
c.1686A>C (p.Arg562=)
c.1680A>C (p.Arg560=)
c.585A>C (p.Arg195=)
1g.9264146A>GCA575370H6PDc.1653A>G (p.Arg551=)
c.1686A>G (p.Arg562=)
c.1680A>G (p.Arg560=)
c.585A>G (p.Arg195=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264146A>TCA416031294H6PDc.1653A>T (p.Arg551=)
c.1686A>T (p.Arg562=)
c.1680A>T (p.Arg560=)
c.585A>T (p.Arg195=)
1g.9264147G>ACA338193490H6PDc.1654G>A (p.Glu552Lys)
c.1687G>A (p.Glu563Lys)
c.1681G>A (p.Glu561Lys)
c.586G>A (p.Glu196Lys)
 dbSNP gnomAD v4
1g.9264147G>CCA338193491H6PDc.1654G>C (p.Glu552Gln)
c.1687G>C (p.Glu563Gln)
c.1681G>C (p.Glu561Gln)
c.586G>C (p.Glu196Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.9264147G=CA1152693923H6PDc.1654G= (p.Glu552=)
c.1687G= (p.Glu563=)
c.1681G= (p.Glu561=)
c.586G= (p.Glu196=)
1g.9264147G>TCA338193492H6PDc.1654G>T (p.Glu552Ter)
c.1687G>T (p.Glu563Ter)
c.1681G>T (p.Glu561Ter)
c.586G>T (p.Glu196Ter)
1g.9264148A>CCA338193495H6PDc.1655A>C (p.Glu552Ala)
c.1688A>C (p.Glu563Ala)
c.1682A>C (p.Glu561Ala)
c.587A>C (p.Glu196Ala)
1g.9264148A>GCA338193493H6PDc.1655A>G (p.Glu552Gly)
c.1688A>G (p.Glu563Gly)
c.1682A>G (p.Glu561Gly)
c.587A>G (p.Glu196Gly)
 ClinVar gnomAD v4
1g.9264148A>TCA338193494H6PDc.1655A>T (p.Glu552Val)
c.1688A>T (p.Glu563Val)
c.1682A>T (p.Glu561Val)
c.587A>T (p.Glu196Val)
1g.9264149G>ACA416031308H6PDc.1656G>A (p.Glu552=)
c.1689G>A (p.Glu563=)
c.1683G>A (p.Glu561=)
c.588G>A (p.Glu196=)
1g.9264149G>CCA338193496H6PDc.1656G>C (p.Glu552Asp)
c.1689G>C (p.Glu563Asp)
c.1683G>C (p.Glu561Asp)
c.588G>C (p.Glu196Asp)
 gnomAD v4
1g.9264149G>TCA338193497H6PDc.1656G>T (p.Glu552Asp)
c.1689G>T (p.Glu563Asp)
c.1683G>T (p.Glu561Asp)
c.588G>T (p.Glu196Asp)
1g.9264150A>CCA338193498H6PDc.1657A>C (p.Ser553Arg)
c.1690A>C (p.Ser564Arg)
c.1684A>C (p.Ser562Arg)
c.589A>C (p.Ser197Arg)
 gnomAD v4
1g.9264150A>GCA338193499H6PDc.1657A>G (p.Ser553Gly)
c.1690A>G (p.Ser564Gly)
c.1684A>G (p.Ser562Gly)
c.589A>G (p.Ser197Gly)
1g.9264150A>TCA338193500H6PDc.1657A>T (p.Ser553Cys)
c.1690A>T (p.Ser564Cys)
c.1684A>T (p.Ser562Cys)
c.589A>T (p.Ser197Cys)
1g.9264151G>ACA575371H6PDc.1658G>A (p.Ser553Asn)
c.1691G>A (p.Ser564Asn)
c.1685G>A (p.Ser562Asn)
c.590G>A (p.Ser197Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264151G>CCA338193502H6PDc.1658G>C (p.Ser553Thr)
c.1691G>C (p.Ser564Thr)
c.1685G>C (p.Ser562Thr)
c.590G>C (p.Ser197Thr)
 dbSNP
1g.9264151G=CA1152693930H6PDc.1658G= (p.Ser553=)
c.1691G= (p.Ser564=)
c.1685G= (p.Ser562=)
c.590G= (p.Ser197=)
1g.9264151G>TCA338193501H6PDc.1658G>T (p.Ser553Ile)
c.1691G>T (p.Ser564Ile)
c.1685G>T (p.Ser562Ile)
c.590G>T (p.Ser197Ile)
 gnomAD v4
1g.9264152C>ACA338193503H6PDc.1659C>A (p.Ser553Arg)
c.1692C>A (p.Ser564Arg)
c.1686C>A (p.Ser562Arg)
c.591C>A (p.Ser197Arg)
1g.9264152C>GCA338193504H6PDc.1659C>G (p.Ser553Arg)
c.1692C>G (p.Ser564Arg)
c.1686C>G (p.Ser562Arg)
c.591C>G (p.Ser197Arg)
1g.9264152C>TCA416031326H6PDc.1659C>T (p.Ser553=)
c.1692C>T (p.Ser564=)
c.1686C>T (p.Ser562=)
c.591C>T (p.Ser197=)
 gnomAD v4
1g.9264153C>ACA338193505H6PDc.1660C>A (p.Pro554Thr)
c.1693C>A (p.Pro565Thr)
c.1687C>A (p.Pro563Thr)
c.592C>A (p.Pro198Thr)
1g.9264153C>GCA338193506H6PDc.1660C>G (p.Pro554Ala)
c.1693C>G (p.Pro565Ala)
c.1687C>G (p.Pro563Ala)
c.592C>G (p.Pro198Ala)
1g.9264153C>TCA338193507H6PDc.1660C>T (p.Pro554Ser)
c.1693C>T (p.Pro565Ser)
c.1687C>T (p.Pro563Ser)
c.592C>T (p.Pro198Ser)
1g.9264154C>ACA575373H6PDc.1661C>A (p.Pro554Gln)
c.1694C>A (p.Pro565Gln)
c.1688C>A (p.Pro563Gln)
c.593C>A (p.Pro198Gln)
 dbSNP ExAC
1g.9264154C=CA1140467451H6PDc.1661C= (p.Pro554=)
c.1694C= (p.Pro565=)
c.1688C= (p.Pro563=)
c.593C= (p.Pro198=)
1g.9264154C>GCA338193508H6PDc.1661C>G (p.Pro554Arg)
c.1694C>G (p.Pro565Arg)
c.1688C>G (p.Pro563Arg)
c.593C>G (p.Pro198Arg)
1g.9264154C>TCA575372H6PDc.1661C>T (p.Pro554Leu)
c.1694C>T (p.Pro565Leu)
c.1688C>T (p.Pro563Leu)
c.593C>T (p.Pro198Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264155G>ACA575374H6PDc.1662G>A (p.Pro554=)
c.1695G>A (p.Pro565=)
c.1689G>A (p.Pro563=)
c.594G>A (p.Pro198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.9264155G>CCA416031333H6PDc.1662G>C (p.Pro554=)
c.1695G>C (p.Pro565=)
c.1689G>C (p.Pro563=)
c.594G>C (p.Pro198=)
1g.9264155G=CA1143662191H6PDc.1662G= (p.Pro554=)
c.1695G= (p.Pro565=)
c.1689G= (p.Pro563=)
c.594G= (p.Pro198=)
1g.9264155G>TCA416031334H6PDc.1662G>T (p.Pro554=)
c.1695G>T (p.Pro565=)
c.1689G>T (p.Pro563=)
c.594G>T (p.Pro198=)
1g.9264156C>ACA338193509H6PDc.1663C>A (p.Leu555Met)
c.1696C>A (p.Leu566Met)
c.1690C>A (p.Leu564Met)
c.595C>A (p.Leu199Met)
1g.9264156C>GCA338193510H6PDc.1663C>G (p.Leu555Val)
c.1696C>G (p.Leu566Val)
c.1690C>G (p.Leu564Val)
c.595C>G (p.Leu199Val)
1g.9264156C>TCA416031340H6PDc.1663C>T (p.Leu555=)
c.1696C>T (p.Leu566=)
c.1690C>T (p.Leu564=)
c.595C>T (p.Leu199=)
 COSMIC
1g.9264157T>ACA338193511H6PDc.1664T>A (p.Leu555Gln)
c.1697T>A (p.Leu566Gln)
c.1691T>A (p.Leu564Gln)
c.596T>A (p.Leu199Gln)
1g.9264157T>CCA338193513H6PDc.1664T>C (p.Leu555Pro)
c.1697T>C (p.Leu566Pro)
c.1691T>C (p.Leu564Pro)
c.596T>C (p.Leu199Pro)
 gnomAD v4
1g.9264157T>GCA338193512H6PDc.1664T>G (p.Leu555Arg)
c.1697T>G (p.Leu566Arg)
c.1691T>G (p.Leu564Arg)
c.596T>G (p.Leu199Arg)
1g.9264158G>ACA416031341H6PDc.1665G>A (p.Leu555=)
c.1698G>A (p.Leu566=)
c.1692G>A (p.Leu564=)
c.597G>A (p.Leu199=)
 gnomAD v4
1g.9264158G>CCA416031342H6PDc.1665G>C (p.Leu555=)
c.1698G>C (p.Leu566=)
c.1692G>C (p.Leu564=)
c.597G>C (p.Leu199=)
1g.9264158G>TCA416031343H6PDc.1665G>T (p.Leu555=)
c.1698G>T (p.Leu566=)
c.1692G>T (p.Leu564=)
c.597G>T (p.Leu199=)
1g.9264159G>ACA338193514H6PDc.1666G>A (p.Val556Ile)
c.1699G>A (p.Val567Ile)
c.1693G>A (p.Val565Ile)
c.598G>A (p.Val200Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.9264159G>CCA338193516H6PDc.1666G>C (p.Val556Leu)
c.1699G>C (p.Val567Leu)
c.1693G>C (p.Val565Leu)
c.598G>C (p.Val200Leu)
1g.9264159G=CA1152693942H6PDc.1666G= (p.Val556=)
c.1699G= (p.Val567=)
c.1693G= (p.Val565=)
c.598G= (p.Val200=)
1g.9264159G>TCA338193515H6PDc.1666G>T (p.Val556Phe)
c.1699G>T (p.Val567Phe)
c.1693G>T (p.Val565Phe)
c.598G>T (p.Val200Phe)
1g.9264160T>ACA338193517H6PDc.1667T>A (p.Val556Asp)
c.1700T>A (p.Val567Asp)
c.1694T>A (p.Val565Asp)
c.599T>A (p.Val200Asp)
1g.9264160T>CCA338193518H6PDc.1667T>C (p.Val556Ala)
c.1700T>C (p.Val567Ala)
c.1694T>C (p.Val565Ala)
c.599T>C (p.Val200Ala)
 gnomAD v4
1g.9264160T>GCA338193519H6PDc.1667T>G (p.Val556Gly)
c.1700T>G (p.Val567Gly)
c.1694T>G (p.Val565Gly)
c.599T>G (p.Val200Gly)
1g.9264161C>ACA416031349H6PDc.1668C>A (p.Val556=)
c.1701C>A (p.Val567=)
c.1695C>A (p.Val565=)
c.600C>A (p.Val200=)
1g.9264161C=CA1152693952H6PDc.1668C= (p.Val556=)
c.1701C= (p.Val567=)
c.1695C= (p.Val565=)
c.600C= (p.Val200=)
1g.9264161C>GCA416031350H6PDc.1668C>G (p.Val556=)
c.1701C>G (p.Val567=)
c.1695C>G (p.Val565=)
c.600C>G (p.Val200=)
1g.9264161C>TCA416031351H6PDc.1668C>T (p.Val556=)
c.1701C>T (p.Val567=)
c.1695C>T (p.Val565=)
c.600C>T (p.Val200=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264162T>ACA338193520H6PDc.1669T>A (p.Ser557Thr)
c.1702T>A (p.Ser568Thr)
c.1696T>A (p.Ser566Thr)
c.601T>A (p.Ser201Thr)
1g.9264162T>CCA338193521H6PDc.1669T>C (p.Ser557Pro)
c.1702T>C (p.Ser568Pro)
c.1696T>C (p.Ser566Pro)
c.601T>C (p.Ser201Pro)
1g.9264162T>GCA338193522H6PDc.1669T>G (p.Ser557Ala)
c.1702T>G (p.Ser568Ala)
c.1696T>G (p.Ser566Ala)
c.601T>G (p.Ser201Ala)
1g.9264163C>ACA338193523H6PDc.1670C>A (p.Ser557Tyr)
c.1703C>A (p.Ser568Tyr)
c.1697C>A (p.Ser566Tyr)
c.602C>A (p.Ser201Tyr)
1g.9264163C>GCA338193524H6PDc.1670C>G (p.Ser557Cys)
c.1703C>G (p.Ser568Cys)
c.1697C>G (p.Ser566Cys)
c.602C>G (p.Ser201Cys)
1g.9264163C>TCA338193525H6PDc.1670C>T (p.Ser557Phe)
c.1703C>T (p.Ser568Phe)
c.1697C>T (p.Ser566Phe)
c.602C>T (p.Ser201Phe)
 COSMIC
1g.9264164C>ACA416031365H6PDc.1671C>A (p.Ser557=)
c.1704C>A (p.Ser568=)
c.1698C>A (p.Ser566=)
c.603C>A (p.Ser201=)
1g.9264164C=CA1152693960H6PDc.1671C= (p.Ser557=)
c.1704C= (p.Ser568=)
c.1698C= (p.Ser566=)
c.603C= (p.Ser201=)
1g.9264164C>GCA416031369H6PDc.1671C>G (p.Ser557=)
c.1704C>G (p.Ser568=)
c.1698C>G (p.Ser566=)
c.603C>G (p.Ser201=)
1g.9264164C>TCA575375H6PDc.1671C>T (p.Ser557=)
c.1704C>T (p.Ser568=)
c.1698C>T (p.Ser566=)
c.603C>T (p.Ser201=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264165G>ACA575376H6PDc.1672G>A (p.Ala558Thr)
c.1705G>A (p.Ala569Thr)
c.1699G>A (p.Ala567Thr)
c.604G>A (p.Ala202Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264165G>CCA338193526H6PDc.1672G>C (p.Ala558Pro)
c.1705G>C (p.Ala569Pro)
c.1699G>C (p.Ala567Pro)
c.604G>C (p.Ala202Pro)
1g.9264165G=CA1146784447H6PDc.1672G= (p.Ala558=)
c.1705G= (p.Ala569=)
c.1699G= (p.Ala567=)
c.604G= (p.Ala202=)
1g.9264165G>TCA338193527H6PDc.1672G>T (p.Ala558Ser)
c.1705G>T (p.Ala569Ser)
c.1699G>T (p.Ala567Ser)
c.604G>T (p.Ala202Ser)
 gnomAD v4
1g.9264166C>ACA338193528H6PDc.1673C>A (p.Ala558Asp)
c.1706C>A (p.Ala569Asp)
c.1700C>A (p.Ala567Asp)
c.605C>A (p.Ala202Asp)
1g.9264166C>GCA338193530H6PDc.1673C>G (p.Ala558Gly)
c.1706C>G (p.Ala569Gly)
c.1700C>G (p.Ala567Gly)
c.605C>G (p.Ala202Gly)
1g.9264166C>TCA338193529H6PDc.1673C>T (p.Ala558Val)
c.1706C>T (p.Ala569Val)
c.1700C>T (p.Ala567Val)
c.605C>T (p.Ala202Val)
1g.9264167C>ACA416031385H6PDc.1674C>A (p.Ala558=)
c.1707C>A (p.Ala569=)
c.1701C>A (p.Ala567=)
c.606C>A (p.Ala202=)
1g.9264167C=CA1152693968H6PDc.1674C= (p.Ala558=)
c.1707C= (p.Ala569=)
c.1701C= (p.Ala567=)
c.606C= (p.Ala202=)
1g.9264167C>GCA416031387H6PDc.1674C>G (p.Ala558=)
c.1707C>G (p.Ala569=)
c.1701C>G (p.Ala567=)
c.606C>G (p.Ala202=)
1g.9264167C>TCA416031388H6PDc.1674C>T (p.Ala558=)
c.1707C>T (p.Ala569=)
c.1701C>T (p.Ala567=)
c.606C>T (p.Ala202=)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched