Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.9263959T>ACA338193108H6PDc.1466T>A (p.Leu489Gln)
c.1499T>A (p.Leu500Gln)
c.1493T>A (p.Leu498Gln)
c.398T>A (p.Leu133Gln)
1g.9263959T>CCA338193109H6PDc.1466T>C (p.Leu489Pro)
c.1499T>C (p.Leu500Pro)
c.1493T>C (p.Leu498Pro)
c.398T>C (p.Leu133Pro)
 gnomAD v4
1g.9263959T>GCA338193110H6PDc.1466T>G (p.Leu489Arg)
c.1499T>G (p.Leu500Arg)
c.1493T>G (p.Leu498Arg)
c.398T>G (p.Leu133Arg)
1g.9263960G>ACA416031547H6PDc.1467G>A (p.Leu489=)
c.1500G>A (p.Leu500=)
c.1494G>A (p.Leu498=)
c.399G>A (p.Leu133=)
 gnomAD v4
1g.9263960G>CCA416031549H6PDc.1467G>C (p.Leu489=)
c.1500G>C (p.Leu500=)
c.1494G>C (p.Leu498=)
c.399G>C (p.Leu133=)
1g.9263960G>TCA416031550H6PDc.1467G>T (p.Leu489=)
c.1500G>T (p.Leu500=)
c.1494G>T (p.Leu498=)
c.399G>T (p.Leu133=)
1g.9263961C>ACA338193111H6PDc.1468C>A (p.Leu490Met)
c.1501C>A (p.Leu501Met)
c.1495C>A (p.Leu499Met)
c.400C>A (p.Leu134Met)
 gnomAD v4
1g.9263961C>GCA338193112H6PDc.1468C>G (p.Leu490Val)
c.1501C>G (p.Leu501Val)
c.1495C>G (p.Leu499Val)
c.400C>G (p.Leu134Val)
1g.9263961C>TCA416031552H6PDc.1468C>T (p.Leu490=)
c.1501C>T (p.Leu501=)
c.1495C>T (p.Leu499=)
c.400C>T (p.Leu134=)
1g.9263962T>ACA338193113H6PDc.1469T>A (p.Leu490Gln)
c.1502T>A (p.Leu501Gln)
c.1496T>A (p.Leu499Gln)
c.401T>A (p.Leu134Gln)
1g.9263962T>CCA575311H6PDc.1469T>C (p.Leu490Pro)
c.1502T>C (p.Leu501Pro)
c.1496T>C (p.Leu499Pro)
c.401T>C (p.Leu134Pro)
 dbSNP ExAC gnomAD v2
1g.9263962T>GCA338193114H6PDc.1469T>G (p.Leu490Arg)
c.1502T>G (p.Leu501Arg)
c.1496T>G (p.Leu499Arg)
c.401T>G (p.Leu134Arg)
1g.9263962T=CA1152693152H6PDc.1469T= (p.Leu490=)
c.1502T= (p.Leu501=)
c.1496T= (p.Leu499=)
c.401T= (p.Leu134=)
1g.9263963G>ACA416031557H6PDc.1470G>A (p.Leu490=)
c.1503G>A (p.Leu501=)
c.1497G>A (p.Leu499=)
c.402G>A (p.Leu134=)
1g.9263963G>CCA416031558H6PDc.1470G>C (p.Leu490=)
c.1503G>C (p.Leu501=)
c.1497G>C (p.Leu499=)
c.402G>C (p.Leu134=)
1g.9263963G>TCA416031559H6PDc.1470G>T (p.Leu490=)
c.1503G>T (p.Leu501=)
c.1497G>T (p.Leu499=)
c.402G>T (p.Leu134=)
1g.9263964G>ACA338193115H6PDc.1471G>A (p.Glu491Lys)
c.1504G>A (p.Glu502Lys)
c.1498G>A (p.Glu500Lys)
c.403G>A (p.Glu135Lys)
1g.9263964G>CCA17750897H6PDc.1471G>C (p.Glu491Gln)
c.1504G>C (p.Glu502Gln)
c.1498G>C (p.Glu500Gln)
c.403G>C (p.Glu135Gln)
 dbSNP
1g.9263964G=CA1152693158H6PDc.1471G= (p.Glu491=)
c.1504G= (p.Glu502=)
c.1498G= (p.Glu500=)
c.403G= (p.Glu135=)
1g.9263964G>TCA338193116H6PDc.1471G>T (p.Glu491Ter)
c.1504G>T (p.Glu502Ter)
c.1498G>T (p.Glu500Ter)
c.403G>T (p.Glu135Ter)
1g.9263965A>CCA338193119H6PDc.1472A>C (p.Glu491Ala)
c.1505A>C (p.Glu502Ala)
c.1499A>C (p.Glu500Ala)
c.404A>C (p.Glu135Ala)
1g.9263965A>GCA338193118H6PDc.1472A>G (p.Glu491Gly)
c.1505A>G (p.Glu502Gly)
c.1499A>G (p.Glu500Gly)
c.404A>G (p.Glu135Gly)
1g.9263965A>TCA338193117H6PDc.1472A>T (p.Glu491Val)
c.1505A>T (p.Glu502Val)
c.1499A>T (p.Glu500Val)
c.404A>T (p.Glu135Val)
1g.9263966G>ACA416031564H6PDc.1473G>A (p.Glu491=)
c.1506G>A (p.Glu502=)
c.1500G>A (p.Glu500=)
c.405G>A (p.Glu135=)
 gnomAD v4
1g.9263966G>CCA338193120H6PDc.1473G>C (p.Glu491Asp)
c.1506G>C (p.Glu502Asp)
c.1500G>C (p.Glu500Asp)
c.405G>C (p.Glu135Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9263966G=CA1152693166H6PDc.1473G= (p.Glu491=)
c.1506G= (p.Glu502=)
c.1500G= (p.Glu500=)
c.405G= (p.Glu135=)
1g.9263966G>TCA338193121H6PDc.1473G>T (p.Glu491Asp)
c.1506G>T (p.Glu502Asp)
c.1500G>T (p.Glu500Asp)
c.405G>T (p.Glu135Asp)
1g.9263967A>CCA338193122H6PDc.1474A>C (p.Ser492Arg)
c.1507A>C (p.Ser503Arg)
c.1501A>C (p.Ser501Arg)
c.406A>C (p.Ser136Arg)
1g.9263967A>GCA338193123H6PDc.1474A>G (p.Ser492Gly)
c.1507A>G (p.Ser503Gly)
c.1501A>G (p.Ser501Gly)
c.406A>G (p.Ser136Gly)
1g.9263967A>TCA338193124H6PDc.1474A>T (p.Ser492Cys)
c.1507A>T (p.Ser503Cys)
c.1501A>T (p.Ser501Cys)
c.406A>T (p.Ser136Cys)
 gnomAD v4
1g.9263968G>ACA338193125H6PDc.1475G>A (p.Ser492Asn)
c.1508G>A (p.Ser503Asn)
c.1502G>A (p.Ser501Asn)
c.407G>A (p.Ser136Asn)
1g.9263968G>CCA338193126H6PDc.1475G>C (p.Ser492Thr)
c.1508G>C (p.Ser503Thr)
c.1502G>C (p.Ser501Thr)
c.407G>C (p.Ser136Thr)
 gnomAD v4
1g.9263968G>TCA338193127H6PDc.1475G>T (p.Ser492Ile)
c.1508G>T (p.Ser503Ile)
c.1502G>T (p.Ser501Ile)
c.407G>T (p.Ser136Ile)
1g.9263969C>ACA338193128H6PDc.1476C>A (p.Ser492Arg)
c.1509C>A (p.Ser503Arg)
c.1503C>A (p.Ser501Arg)
c.408C>A (p.Ser136Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9263969C=CA1152693168H6PDc.1476C= (p.Ser492=)
c.1509C= (p.Ser503=)
c.1503C= (p.Ser501=)
c.408C= (p.Ser136=)
1g.9263969C>GCA338193129H6PDc.1476C>G (p.Ser492Arg)
c.1509C>G (p.Ser503Arg)
c.1503C>G (p.Ser501Arg)
c.408C>G (p.Ser136Arg)
 gnomAD v4
1g.9263969C>TCA575312H6PDc.1476C>T (p.Ser492=)
c.1509C>T (p.Ser503=)
c.1503C>T (p.Ser501=)
c.408C>T (p.Ser136=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9263969_9263970delCA2643115493H6PDc.1476_1477del (p.Leu493GlyfsTer3)
c.1509_1510del (p.Leu504GlyfsTer3)
c.1503_1504del (p.Leu502GlyfsTer3)
c.408_409del (p.Leu137GlyfsTer3)
 gnomAD v4
1g.9263970C>ACA338193130H6PDc.1477C>A (p.Leu493Met)
c.1510C>A (p.Leu504Met)
c.1504C>A (p.Leu502Met)
c.409C>A (p.Leu137Met)
1g.9263970C=CA1152693172H6PDc.1477C= (p.Leu493=)
c.1510C= (p.Leu504=)
c.1504C= (p.Leu502=)
c.409C= (p.Leu137=)
1g.9263970C>GCA338193131H6PDc.1477C>G (p.Leu493Val)
c.1510C>G (p.Leu504Val)
c.1504C>G (p.Leu502Val)
c.409C>G (p.Leu137Val)
1g.9263970C>TCA416031582H6PDc.1477C>T (p.Leu493=)
c.1510C>T (p.Leu504=)
c.1504C>T (p.Leu502=)
c.409C>T (p.Leu137=)
 dbSNP gnomAD v2 gnomAD v4
1g.9263971T>ACA338193134H6PDc.1478T>A (p.Leu493Gln)
c.1511T>A (p.Leu504Gln)
c.1505T>A (p.Leu502Gln)
c.410T>A (p.Leu137Gln)
1g.9263971T>CCA338193133H6PDc.1478T>C (p.Leu493Pro)
c.1511T>C (p.Leu504Pro)
c.1505T>C (p.Leu502Pro)
c.410T>C (p.Leu137Pro)
 gnomAD v4
1g.9263971T>GCA338193132H6PDc.1478T>G (p.Leu493Arg)
c.1511T>G (p.Leu504Arg)
c.1505T>G (p.Leu502Arg)
c.410T>G (p.Leu137Arg)
1g.9263972G>ACA17750905H6PDc.1479G>A (p.Leu493=)
c.1512G>A (p.Leu504=)
c.1506G>A (p.Leu502=)
c.411G>A (p.Leu137=)
 dbSNP gnomAD v4
1g.9263972G>CCA416031592H6PDc.1479G>C (p.Leu493=)
c.1512G>C (p.Leu504=)
c.1506G>C (p.Leu502=)
c.411G>C (p.Leu137=)
1g.9263972G=CA1152693176H6PDc.1479G= (p.Leu493=)
c.1512G= (p.Leu504=)
c.1506G= (p.Leu502=)
c.411G= (p.Leu137=)
1g.9263972G>TCA416031591H6PDc.1479G>T (p.Leu493=)
c.1512G>T (p.Leu504=)
c.1506G>T (p.Leu502=)
c.411G>T (p.Leu137=)
1g.9263973G>ACA338193135H6PDc.1480G>A (p.Ala494Thr)
c.1513G>A (p.Ala505Thr)
c.1507G>A (p.Ala503Thr)
c.412G>A (p.Ala138Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.9263973G>CCA338193136H6PDc.1480G>C (p.Ala494Pro)
c.1513G>C (p.Ala505Pro)
c.1507G>C (p.Ala503Pro)
c.412G>C (p.Ala138Pro)
1g.9263973G=CA1152693185H6PDc.1480G= (p.Ala494=)
c.1513G= (p.Ala505=)
c.1507G= (p.Ala503=)
c.412G= (p.Ala138=)
1g.9263973G>TCA338193137H6PDc.1480G>T (p.Ala494Ser)
c.1513G>T (p.Ala505Ser)
c.1507G>T (p.Ala503Ser)
c.412G>T (p.Ala138Ser)
1g.9263973_9263996delCA2643115494H6PDc.1480_1503del (p.Ala494_Tyr501del)
c.1513_1536del (p.Ala505_Tyr512del)
c.1507_1530del (p.Ala503_Tyr510del)
c.412_435del (p.Ala138_Tyr145del)
 gnomAD v4
1g.9263974C>ACA338193138H6PDc.1481C>A (p.Ala494Asp)
c.1514C>A (p.Ala505Asp)
c.1508C>A (p.Ala503Asp)
c.413C>A (p.Ala138Asp)
1g.9263974C=CA1152693188H6PDc.1481C= (p.Ala494=)
c.1514C= (p.Ala505=)
c.1508C= (p.Ala503=)
c.413C= (p.Ala138=)
1g.9263974C>GCA338193139H6PDc.1481C>G (p.Ala494Gly)
c.1514C>G (p.Ala505Gly)
c.1508C>G (p.Ala503Gly)
c.413C>G (p.Ala138Gly)
1g.9263974C>TCA338193140H6PDc.1481C>T (p.Ala494Val)
c.1514C>T (p.Ala505Val)
c.1508C>T (p.Ala503Val)
c.413C>T (p.Ala138Val)
 dbSNP gnomAD v4
1g.9263975C>ACA416031599H6PDc.1482C>A (p.Ala494=)
c.1515C>A (p.Ala505=)
c.1509C>A (p.Ala503=)
c.414C>A (p.Ala138=)
1g.9263975C>GCA416031600H6PDc.1482C>G (p.Ala494=)
c.1515C>G (p.Ala505=)
c.1509C>G (p.Ala503=)
c.414C>G (p.Ala138=)
1g.9263975C>TCA416031601H6PDc.1482C>T (p.Ala494=)
c.1515C>T (p.Ala505=)
c.1509C>T (p.Ala503=)
c.414C>T (p.Ala138=)
1g.9263976C>ACA338193141H6PDc.1483C>A (p.His495Asn)
c.1516C>A (p.His506Asn)
c.1510C>A (p.His504Asn)
c.415C>A (p.His139Asn)
 gnomAD v4
1g.9263976C>GCA338193142H6PDc.1483C>G (p.His495Asp)
c.1516C>G (p.His506Asp)
c.1510C>G (p.His504Asp)
c.415C>G (p.His139Asp)
1g.9263976C>TCA338193143H6PDc.1483C>T (p.His495Tyr)
c.1516C>T (p.His506Tyr)
c.1510C>T (p.His504Tyr)
c.415C>T (p.His139Tyr)
1g.9263977A>CCA338193144H6PDc.1484A>C (p.His495Pro)
c.1517A>C (p.His506Pro)
c.1511A>C (p.His504Pro)
c.416A>C (p.His139Pro)
1g.9263977A>GCA338193145H6PDc.1484A>G (p.His495Arg)
c.1517A>G (p.His506Arg)
c.1511A>G (p.His504Arg)
c.416A>G (p.His139Arg)
1g.9263977A>TCA338193146H6PDc.1484A>T (p.His495Leu)
c.1517A>T (p.His506Leu)
c.1511A>T (p.His504Leu)
c.416A>T (p.His139Leu)
1g.9263978T>ACA338193147H6PDc.1485T>A (p.His495Gln)
c.1518T>A (p.His506Gln)
c.1512T>A (p.His504Gln)
c.417T>A (p.His139Gln)
1g.9263978T>CCA416031607H6PDc.1485T>C (p.His495=)
c.1518T>C (p.His506=)
c.1512T>C (p.His504=)
c.417T>C (p.His139=)
 dbSNP gnomAD v2 gnomAD v4
1g.9263978T>GCA338193148H6PDc.1485T>G (p.His495Gln)
c.1518T>G (p.His506Gln)
c.1512T>G (p.His504Gln)
c.417T>G (p.His139Gln)
1g.9263978T=CA1152693197H6PDc.1485T= (p.His495=)
c.1518T= (p.His506=)
c.1512T= (p.His504=)
c.417T= (p.His139=)
1g.9263978_9263979delinsTACA1152693199H6PDc.1485_1486delinsTA (p.His495=)
c.1518_1519delinsTA (p.His506=)
c.1512_1513delinsTA (p.His504=)
c.417_418delinsTA (p.His139=)
1g.9263979A=CA1152693212H6PDc.1486A= (p.Lys496=)
c.1519A= (p.Lys507=)
c.1513A= (p.Lys505=)
c.418A= (p.Lys140=)
1g.9263979A>CCA575313H6PDc.1486A>C (p.Lys496Gln)
c.1519A>C (p.Lys507Gln)
c.1513A>C (p.Lys505Gln)
c.418A>C (p.Lys140Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9263979A>GCA338193150H6PDc.1486A>G (p.Lys496Glu)
c.1519A>G (p.Lys507Glu)
c.1513A>G (p.Lys505Glu)
c.418A>G (p.Lys140Glu)
 gnomAD v4
1g.9263979A>TCA338193149H6PDc.1486A>T (p.Lys496Ter)
c.1519A>T (p.Lys507Ter)
c.1513A>T (p.Lys505Ter)
c.418A>T (p.Lys140Ter)
1g.9263980delCA1152693207H6PDc.1487del (p.Lys496ArgfsTer?)
c.1520del (p.Lys507ArgfsTer?)
c.1514del (p.Lys505ArgfsTer?)
c.419del (p.Lys140ArgfsTer?)
 dbSNP
1g.9263980A=CA1152693215H6PDc.1487A= (p.Lys496=)
c.1520A= (p.Lys507=)
c.1514A= (p.Lys505=)
c.419A= (p.Lys140=)
1g.9263980A>CCA338193151H6PDc.1487A>C (p.Lys496Thr)
c.1520A>C (p.Lys507Thr)
c.1514A>C (p.Lys505Thr)
c.419A>C (p.Lys140Thr)
1g.9263980A>GCA338193152H6PDc.1487A>G (p.Lys496Arg)
c.1520A>G (p.Lys507Arg)
c.1514A>G (p.Lys505Arg)
c.419A>G (p.Lys140Arg)
1g.9263980A>TCA338193153H6PDc.1487A>T (p.Lys496Met)
c.1520A>T (p.Lys507Met)
c.1514A>T (p.Lys505Met)
c.419A>T (p.Lys140Met)
 dbSNP gnomAD v2 gnomAD v4
1g.9263980_9263981insAACACCCAAACACACCCAACACACA2742402683H6PDc.1487_1488insAACACCCAAACACACCCAACACA (p.Ala497ThrfsTer?)
c.1520_1521insAACACCCAAACACACCCAACACA (p.Ala508ThrfsTer?)
c.1514_1515insAACACCCAAACACACCCAACACA (p.Ala506ThrfsTer?)
c.419_420insAACACCCAAACACACCCAACACA (p.Ala141ThrfsTer?)
1g.9263981G>ACA17750914H6PDc.1488G>A (p.Lys496=)
c.1521G>A (p.Lys507=)
c.1515G>A (p.Lys505=)
c.420G>A (p.Lys140=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9263981G>CCA338193154H6PDc.1488G>C (p.Lys496Asn)
c.1521G>C (p.Lys507Asn)
c.1515G>C (p.Lys505Asn)
c.420G>C (p.Lys140Asn)
1g.9263981G=CA1152693221H6PDc.1488G= (p.Lys496=)
c.1521G= (p.Lys507=)
c.1515G= (p.Lys505=)
c.420G= (p.Lys140=)
1g.9263981G>TCA338193155H6PDc.1488G>T (p.Lys496Asn)
c.1521G>T (p.Lys507Asn)
c.1515G>T (p.Lys505Asn)
c.420G>T (p.Lys140Asn)
1g.9263982G>ACA338193156H6PDc.1489G>A (p.Ala497Thr)
c.1522G>A (p.Ala508Thr)
c.1516G>A (p.Ala506Thr)
c.421G>A (p.Ala141Thr)
 dbSNP
1g.9263982G>CCA17750916H6PDc.1489G>C (p.Ala497Pro)
c.1522G>C (p.Ala508Pro)
c.1516G>C (p.Ala506Pro)
c.421G>C (p.Ala141Pro)
 dbSNP
1g.9263982G=CA1152693224H6PDc.1489G= (p.Ala497=)
c.1522G= (p.Ala508=)
c.1516G= (p.Ala506=)
c.421G= (p.Ala141=)
1g.9263982G>TCA338193157H6PDc.1489G>T (p.Ala497Ser)
c.1522G>T (p.Ala508Ser)
c.1516G>T (p.Ala506Ser)
c.421G>T (p.Ala141Ser)
1g.9263983C>ACA338193158H6PDc.1490C>A (p.Ala497Asp)
c.1523C>A (p.Ala508Asp)
c.1517C>A (p.Ala506Asp)
c.422C>A (p.Ala141Asp)
1g.9263983C=CA1152693230H6PDc.1490C= (p.Ala497=)
c.1523C= (p.Ala508=)
c.1517C= (p.Ala506=)
c.422C= (p.Ala141=)
1g.9263983C>GCA338193159H6PDc.1490C>G (p.Ala497Gly)
c.1523C>G (p.Ala508Gly)
c.1517C>G (p.Ala506Gly)
c.422C>G (p.Ala141Gly)
 dbSNP
1g.9263983C>TCA338193160H6PDc.1490C>T (p.Ala497Val)
c.1523C>T (p.Ala508Val)
c.1517C>T (p.Ala506Val)
c.422C>T (p.Ala141Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9263984C>ACA416031631H6PDc.1491C>A (p.Ala497=)
c.1524C>A (p.Ala508=)
c.1518C>A (p.Ala506=)
c.423C>A (p.Ala141=)
1g.9263984C>GCA416031632H6PDc.1491C>G (p.Ala497=)
c.1524C>G (p.Ala508=)
c.1518C>G (p.Ala506=)
c.423C>G (p.Ala141=)
1g.9263984C>TCA416031633H6PDc.1491C>T (p.Ala497=)
c.1524C>T (p.Ala508=)
c.1518C>T (p.Ala506=)
c.423C>T (p.Ala141=)
1g.9263985C>ACA338193161H6PDc.1492C>A (p.Pro498Thr)
c.1525C>A (p.Pro509Thr)
c.1519C>A (p.Pro507Thr)
c.424C>A (p.Pro142Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.9263985C=CA1152693236H6PDc.1492C= (p.Pro498=)
c.1525C= (p.Pro509=)
c.1519C= (p.Pro507=)
c.424C= (p.Pro142=)
1g.9263985C>GCA338193162H6PDc.1492C>G (p.Pro498Ala)
c.1525C>G (p.Pro509Ala)
c.1519C>G (p.Pro507Ala)
c.424C>G (p.Pro142Ala)
1g.9263985C>TCA338193163H6PDc.1492C>T (p.Pro498Ser)
c.1525C>T (p.Pro509Ser)
c.1519C>T (p.Pro507Ser)
c.424C>T (p.Pro142Ser)
1g.9263986C>ACA338193166H6PDc.1493C>A (p.Pro498Gln)
c.1526C>A (p.Pro509Gln)
c.1520C>A (p.Pro507Gln)
c.425C>A (p.Pro142Gln)
1g.9263986C>GCA338193165H6PDc.1493C>G (p.Pro498Arg)
c.1526C>G (p.Pro509Arg)
c.1520C>G (p.Pro507Arg)
c.425C>G (p.Pro142Arg)
1g.9263986C>TCA338193164H6PDc.1493C>T (p.Pro498Leu)
c.1526C>T (p.Pro509Leu)
c.1520C>T (p.Pro507Leu)
c.425C>T (p.Pro142Leu)
1g.9263987A>CCA416031639H6PDc.1494A>C (p.Pro498=)
c.1527A>C (p.Pro509=)
c.1521A>C (p.Pro507=)
c.426A>C (p.Pro142=)
1g.9263987A>GCA416031644H6PDc.1494A>G (p.Pro498=)
c.1527A>G (p.Pro509=)
c.1521A>G (p.Pro507=)
c.426A>G (p.Pro142=)
1g.9263987A>TCA416031641H6PDc.1494A>T (p.Pro498=)
c.1527A>T (p.Pro509=)
c.1521A>T (p.Pro507=)
c.426A>T (p.Pro142=)
1g.9263988C>ACA338193167H6PDc.1495C>A (p.Arg499Ser)
c.1528C>A (p.Arg510Ser)
c.1522C>A (p.Arg508Ser)
c.427C>A (p.Arg143Ser)
 gnomAD v4
1g.9263988C=CA1148561486H6PDc.1495C= (p.Arg499=)
c.1528C= (p.Arg510=)
c.1522C= (p.Arg508=)
c.427C= (p.Arg143=)
1g.9263988C>GCA17750922H6PDc.1495C>G (p.Arg499Gly)
c.1528C>G (p.Arg510Gly)
c.1522C>G (p.Arg508Gly)
c.427C>G (p.Arg143Gly)
 dbSNP
1g.9263988C>TCA575314H6PDc.1495C>T (p.Arg499Cys)
c.1528C>T (p.Arg510Cys)
c.1522C>T (p.Arg508Cys)
c.427C>T (p.Arg143Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9263989G>ACA575315H6PDc.1496G>A (p.Arg499His)
c.1529G>A (p.Arg510His)
c.1523G>A (p.Arg508His)
c.428G>A (p.Arg143His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9263989G>CCA338193168H6PDc.1496G>C (p.Arg499Pro)
c.1529G>C (p.Arg510Pro)
c.1523G>C (p.Arg508Pro)
c.428G>C (p.Arg143Pro)
1g.9263989G=CA1141779051H6PDc.1496G= (p.Arg499=)
c.1529G= (p.Arg510=)
c.1523G= (p.Arg508=)
c.428G= (p.Arg143=)
1g.9263989G>TCA338193169H6PDc.1496G>T (p.Arg499Leu)
c.1529G>T (p.Arg510Leu)
c.1523G>T (p.Arg508Leu)
c.428G>T (p.Arg143Leu)
 COSMIC
1g.9263990C>ACA575316H6PDc.1497C>A (p.Arg499=)
c.1530C>A (p.Arg510=)
c.1524C>A (p.Arg508=)
c.429C>A (p.Arg143=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9263990C=CA1152693256H6PDc.1497C= (p.Arg499=)
c.1530C= (p.Arg510=)
c.1524C= (p.Arg508=)
c.429C= (p.Arg143=)
1g.9263990C>GCA416031648H6PDc.1497C>G (p.Arg499=)
c.1530C>G (p.Arg510=)
c.1524C>G (p.Arg508=)
c.429C>G (p.Arg143=)
1g.9263990C>TCA416031652H6PDc.1497C>T (p.Arg499=)
c.1530C>T (p.Arg510=)
c.1524C>T (p.Arg508=)
c.429C>T (p.Arg143=)
1g.9263991C>ACA338193170H6PDc.1498C>A (p.Leu500Ile)
c.1531C>A (p.Leu511Ile)
c.1525C>A (p.Leu509Ile)
c.430C>A (p.Leu144Ile)
1g.9263991C>GCA338193171H6PDc.1498C>G (p.Leu500Val)
c.1531C>G (p.Leu511Val)
c.1525C>G (p.Leu509Val)
c.430C>G (p.Leu144Val)
1g.9263991C>TCA338193172H6PDc.1498C>T (p.Leu500Phe)
c.1531C>T (p.Leu511Phe)
c.1525C>T (p.Leu509Phe)
c.430C>T (p.Leu144Phe)
1g.9263993_9263994dupCA2574201608H6PDc.1500_1501dup (p.Tyr501SerfsTer?)
c.1533_1534dup (p.Tyr512SerfsTer?)
c.1527_1528dup (p.Tyr510SerfsTer?)
c.432_433dup (p.Tyr145SerfsTer?)
1g.9263992T>ACA338193173H6PDc.1499T>A (p.Leu500His)
c.1532T>A (p.Leu511His)
c.1526T>A (p.Leu509His)
c.431T>A (p.Leu144His)
1g.9263992T>CCA338193174H6PDc.1499T>C (p.Leu500Pro)
c.1532T>C (p.Leu511Pro)
c.1526T>C (p.Leu509Pro)
c.431T>C (p.Leu144Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.9263992T>GCA338193175H6PDc.1499T>G (p.Leu500Arg)
c.1532T>G (p.Leu511Arg)
c.1526T>G (p.Leu509Arg)
c.431T>G (p.Leu144Arg)
1g.9263992T=CA1152693275H6PDc.1499T= (p.Leu500=)
c.1532T= (p.Leu511=)
c.1526T= (p.Leu509=)
c.431T= (p.Leu144=)
1g.9263993C>ACA416031659H6PDc.1500C>A (p.Leu500=)
c.1533C>A (p.Leu511=)
c.1527C>A (p.Leu509=)
c.432C>A (p.Leu144=)
1g.9263993C=CA1152693280H6PDc.1500C= (p.Leu500=)
c.1533C= (p.Leu511=)
c.1527C= (p.Leu509=)
c.432C= (p.Leu144=)
1g.9263993C>GCA416031663H6PDc.1500C>G (p.Leu500=)
c.1533C>G (p.Leu511=)
c.1527C>G (p.Leu509=)
c.432C>G (p.Leu144=)
1g.9263993C>TCA416031661H6PDc.1500C>T (p.Leu500=)
c.1533C>T (p.Leu511=)
c.1527C>T (p.Leu509=)
c.432C>T (p.Leu144=)
 dbSNP gnomAD v2 gnomAD v4
1g.9263995_9263999delCA2643115495H6PDc.1502_1506del (p.Tyr501TrpfsTer4)
c.1535_1539del (p.Tyr512TrpfsTer4)
c.1529_1533del (p.Tyr510TrpfsTer4)
c.434_438del (p.Tyr145TrpfsTer4)
 gnomAD v4
1g.9263994T>ACA338193178H6PDc.1501T>A (p.Tyr501Asn)
c.1534T>A (p.Tyr512Asn)
c.1528T>A (p.Tyr510Asn)
c.433T>A (p.Tyr145Asn)
1g.9263994T>CCA338193177H6PDc.1501T>C (p.Tyr501His)
c.1534T>C (p.Tyr512His)
c.1528T>C (p.Tyr510His)
c.433T>C (p.Tyr145His)
 dbSNP
1g.9263994T>GCA338193176H6PDc.1501T>G (p.Tyr501Asp)
c.1534T>G (p.Tyr512Asp)
c.1528T>G (p.Tyr510Asp)
c.433T>G (p.Tyr145Asp)
1g.9263994T=CA1152693287H6PDc.1501T= (p.Tyr501=)
c.1534T= (p.Tyr512=)
c.1528T= (p.Tyr510=)
c.433T= (p.Tyr145=)
1g.9263995A>CCA338193179H6PDc.1502A>C (p.Tyr501Ser)
c.1535A>C (p.Tyr512Ser)
c.1529A>C (p.Tyr510Ser)
c.434A>C (p.Tyr145Ser)
1g.9263995A>GCA338193180H6PDc.1502A>G (p.Tyr501Cys)
c.1535A>G (p.Tyr512Cys)
c.1529A>G (p.Tyr510Cys)
c.434A>G (p.Tyr145Cys)
1g.9263995A>TCA338193181H6PDc.1502A>T (p.Tyr501Phe)
c.1535A>T (p.Tyr512Phe)
c.1529A>T (p.Tyr510Phe)
c.434A>T (p.Tyr145Phe)
1g.9263996C>ACA338193182H6PDc.1503C>A (p.Tyr501Ter)
c.1536C>A (p.Tyr512Ter)
c.1530C>A (p.Tyr510Ter)
c.435C>A (p.Tyr145Ter)
1g.9263996C=CA1148422803H6PDc.1503C= (p.Tyr501=)
c.1536C= (p.Tyr512=)
c.1530C= (p.Tyr510=)
c.435C= (p.Tyr145=)
1g.9263996C>GCA338193183H6PDc.1503C>G (p.Tyr501Ter)
c.1536C>G (p.Tyr512Ter)
c.1530C>G (p.Tyr510Ter)
c.435C>G (p.Tyr145Ter)
1g.9263996C>TCA575317H6PDc.1503C>T (p.Tyr501=)
c.1536C>T (p.Tyr512=)
c.1530C>T (p.Tyr510=)
c.435C>T (p.Tyr145=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9263997C>ACA338193184H6PDc.1504C>A (p.Pro502Thr)
c.1537C>A (p.Pro513Thr)
c.1531C>A (p.Pro511Thr)
c.436C>A (p.Pro146Thr)
1g.9263997C>GCA338193185H6PDc.1504C>G (p.Pro502Ala)
c.1537C>G (p.Pro513Ala)
c.1531C>G (p.Pro511Ala)
c.436C>G (p.Pro146Ala)
1g.9263997C>TCA338193186H6PDc.1504C>T (p.Pro502Ser)
c.1537C>T (p.Pro513Ser)
c.1531C>T (p.Pro511Ser)
c.436C>T (p.Pro146Ser)
1g.9263998C>ACA338193187H6PDc.1505C>A (p.Pro502His)
c.1538C>A (p.Pro513His)
c.1532C>A (p.Pro511His)
c.437C>A (p.Pro146His)
1g.9263998C=CA1152693295H6PDc.1505C= (p.Pro502=)
c.1538C= (p.Pro513=)
c.1532C= (p.Pro511=)
c.437C= (p.Pro146=)
1g.9263998C>GCA338193188H6PDc.1505C>G (p.Pro502Arg)
c.1538C>G (p.Pro513Arg)
c.1532C>G (p.Pro511Arg)
c.437C>G (p.Pro146Arg)
1g.9263998C>TCA575318H6PDc.1505C>T (p.Pro502Leu)
c.1538C>T (p.Pro513Leu)
c.1532C>T (p.Pro511Leu)
c.437C>T (p.Pro146Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9263999T>ACA416031676H6PDc.1506T>A (p.Pro502=)
c.1539T>A (p.Pro513=)
c.1533T>A (p.Pro511=)
c.438T>A (p.Pro146=)
1g.9263999T>CCA575319H6PDc.1506T>C (p.Pro502=)
c.1539T>C (p.Pro513=)
c.1533T>C (p.Pro511=)
c.438T>C (p.Pro146=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9263999T>GCA416031679H6PDc.1506T>G (p.Pro502=)
c.1539T>G (p.Pro513=)
c.1533T>G (p.Pro511=)
c.438T>G (p.Pro146=)
1g.9263999T=CA1144062383H6PDc.1506T= (p.Pro502=)
c.1539T= (p.Pro513=)
c.1533T= (p.Pro511=)
c.438T= (p.Pro146=)
1g.9264000G>ACA338193190H6PDc.1507G>A (p.Gly503Arg)
c.1540G>A (p.Gly514Arg)
c.1534G>A (p.Gly512Arg)
c.439G>A (p.Gly147Arg)
1g.9264000G>CCA338193191H6PDc.1507G>C (p.Gly503Arg)
c.1540G>C (p.Gly514Arg)
c.1534G>C (p.Gly512Arg)
c.439G>C (p.Gly147Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.9264000G=CA1152693303H6PDc.1507G= (p.Gly503=)
c.1540G= (p.Gly514=)
c.1534G= (p.Gly512=)
c.439G= (p.Gly147=)
1g.9264000G>TCA338193189H6PDc.1507G>T (p.Gly503Ter)
c.1540G>T (p.Gly514Ter)
c.1534G>T (p.Gly512Ter)
c.439G>T (p.Gly147Ter)
1g.9264001G>ACA575320H6PDc.1508G>A (p.Gly503Glu)
c.1541G>A (p.Gly514Glu)
c.1535G>A (p.Gly512Glu)
c.440G>A (p.Gly147Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264001G>CCA338193193H6PDc.1508G>C (p.Gly503Ala)
c.1541G>C (p.Gly514Ala)
c.1535G>C (p.Gly512Ala)
c.440G>C (p.Gly147Ala)
1g.9264001G=CA1148256939H6PDc.1508G= (p.Gly503=)
c.1541G= (p.Gly514=)
c.1535G= (p.Gly512=)
c.440G= (p.Gly147=)
1g.9264001G>TCA338193192H6PDc.1508G>T (p.Gly503Val)
c.1541G>T (p.Gly514Val)
c.1535G>T (p.Gly512Val)
c.440G>T (p.Gly147Val)
 gnomAD v4
1g.9264002A=CA1152693314H6PDc.1509A= (p.Gly503=)
c.1542A= (p.Gly514=)
c.1536A= (p.Gly512=)
c.441A= (p.Gly147=)
1g.9264002A>CCA416031823H6PDc.1509A>C (p.Gly503=)
c.1542A>C (p.Gly514=)
c.1536A>C (p.Gly512=)
c.441A>C (p.Gly147=)
1g.9264002A>GCA575321H6PDc.1509A>G (p.Gly503=)
c.1542A>G (p.Gly514=)
c.1536A>G (p.Gly512=)
c.441A>G (p.Gly147=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264002A>TCA416031821H6PDc.1509A>T (p.Gly503=)
c.1542A>T (p.Gly514=)
c.1536A>T (p.Gly512=)
c.441A>T (p.Gly147=)
1g.9264003G>ACA338193194H6PDc.1510G>A (p.Gly504Arg)
c.1543G>A (p.Gly515Arg)
c.1537G>A (p.Gly513Arg)
c.442G>A (p.Gly148Arg)
1g.9264003G>CCA338193195H6PDc.1510G>C (p.Gly504Arg)
c.1543G>C (p.Gly515Arg)
c.1537G>C (p.Gly513Arg)
c.442G>C (p.Gly148Arg)
1g.9264003G>TCA338193196H6PDc.1510G>T (p.Gly504Ter)
c.1543G>T (p.Gly515Ter)
c.1537G>T (p.Gly513Ter)
c.442G>T (p.Gly148Ter)
1g.9264004G>ACA575323H6PDc.1511G>A (p.Gly504Glu)
c.1544G>A (p.Gly515Glu)
c.1538G>A (p.Gly513Glu)
c.443G>A (p.Gly148Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264004G>CCA338193197H6PDc.1511G>C (p.Gly504Ala)
c.1544G>C (p.Gly515Ala)
c.1538G>C (p.Gly513Ala)
c.443G>C (p.Gly148Ala)
1g.9264004G=CA1152693328H6PDc.1511G= (p.Gly504=)
c.1544G= (p.Gly515=)
c.1538G= (p.Gly513=)
c.443G= (p.Gly148=)
1g.9264004G>TCA575322H6PDc.1511G>T (p.Gly504Val)
c.1544G>T (p.Gly515Val)
c.1538G>T (p.Gly513Val)
c.443G>T (p.Gly148Val)
 dbSNP ExAC gnomAD v2
1g.9264005A=CA1152693337H6PDc.1512A= (p.Gly504=)
c.1545A= (p.Gly515=)
c.1539A= (p.Gly513=)
c.444A= (p.Gly148=)
1g.9264005A>CCA416031828H6PDc.1512A>C (p.Gly504=)
c.1545A>C (p.Gly515=)
c.1539A>C (p.Gly513=)
c.444A>C (p.Gly148=)
1g.9264005A>GCA416031830H6PDc.1512A>G (p.Gly504=)
c.1545A>G (p.Gly515=)
c.1539A>G (p.Gly513=)
c.444A>G (p.Gly148=)
1g.9264005A>TCA575324H6PDc.1512A>T (p.Gly504=)
c.1545A>T (p.Gly515=)
c.1539A>T (p.Gly513=)
c.444A>T (p.Gly148=)
 dbSNP ExAC gnomAD v2
1g.9264006G>ACA575325H6PDc.1513G>A (p.Ala505Thr)
c.1546G>A (p.Ala516Thr)
c.1540G>A (p.Ala514Thr)
c.445G>A (p.Ala149Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264006G>CCA338193198H6PDc.1513G>C (p.Ala505Pro)
c.1546G>C (p.Ala516Pro)
c.1540G>C (p.Ala514Pro)
c.445G>C (p.Ala149Pro)
1g.9264006G=CA1152693340H6PDc.1513G= (p.Ala505=)
c.1546G= (p.Ala516=)
c.1540G= (p.Ala514=)
c.445G= (p.Ala149=)
1g.9264006G>TCA338193199H6PDc.1513G>T (p.Ala505Ser)
c.1546G>T (p.Ala516Ser)
c.1540G>T (p.Ala514Ser)
c.445G>T (p.Ala149Ser)
1g.9264007C>ACA338193201H6PDc.1514C>A (p.Ala505Asp)
c.1547C>A (p.Ala516Asp)
c.1541C>A (p.Ala514Asp)
c.446C>A (p.Ala149Asp)
1g.9264007C=CA1141731447H6PDc.1514C= (p.Ala505=)
c.1547C= (p.Ala516=)
c.1541C= (p.Ala514=)
c.446C= (p.Ala149=)
1g.9264007C>GCA575326H6PDc.1514C>G (p.Ala505Gly)
c.1547C>G (p.Ala516Gly)
c.1541C>G (p.Ala514Gly)
c.446C>G (p.Ala149Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264007C>TCA338193200H6PDc.1514C>T (p.Ala505Val)
c.1547C>T (p.Ala516Val)
c.1541C>T (p.Ala514Val)
c.446C>T (p.Ala149Val)
1g.9264008T>ACA416031835H6PDc.1515T>A (p.Ala505=)
c.1548T>A (p.Ala516=)
c.1542T>A (p.Ala514=)
c.447T>A (p.Ala149=)
1g.9264008T>CCA416031834H6PDc.1515T>C (p.Ala505=)
c.1548T>C (p.Ala516=)
c.1542T>C (p.Ala514=)
c.447T>C (p.Ala149=)
 dbSNP gnomAD v2 gnomAD v4
1g.9264008T>GCA416031836H6PDc.1515T>G (p.Ala505=)
c.1548T>G (p.Ala516=)
c.1542T>G (p.Ala514=)
c.447T>G (p.Ala149=)
 gnomAD v4
1g.9264008T=CA1152693351H6PDc.1515T= (p.Ala505=)
c.1548T= (p.Ala516=)
c.1542T= (p.Ala514=)
c.447T= (p.Ala149=)
1g.9264009G>ACA338193202H6PDc.1516G>A (p.Glu506Lys)
c.1549G>A (p.Glu517Lys)
c.1543G>A (p.Glu515Lys)
c.448G>A (p.Glu150Lys)
 gnomAD v4
1g.9264009G>CCA338193203H6PDc.1516G>C (p.Glu506Gln)
c.1549G>C (p.Glu517Gln)
c.1543G>C (p.Glu515Gln)
c.448G>C (p.Glu150Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.9264009G=CA1152693354H6PDc.1516G= (p.Glu506=)
c.1549G= (p.Glu517=)
c.1543G= (p.Glu515=)
c.448G= (p.Glu150=)
1g.9264009G>TCA338193204H6PDc.1516G>T (p.Glu506Ter)
c.1549G>T (p.Glu517Ter)
c.1543G>T (p.Glu515Ter)
c.448G>T (p.Glu150Ter)
1g.9264010A>CCA338193205H6PDc.1517A>C (p.Glu506Ala)
c.1550A>C (p.Glu517Ala)
c.1544A>C (p.Glu515Ala)
c.449A>C (p.Glu150Ala)
 gnomAD v4
1g.9264010A>GCA338193206H6PDc.1517A>G (p.Glu506Gly)
c.1550A>G (p.Glu517Gly)
c.1544A>G (p.Glu515Gly)
c.449A>G (p.Glu150Gly)
1g.9264010A>TCA338193207H6PDc.1517A>T (p.Glu506Val)
c.1550A>T (p.Glu517Val)
c.1544A>T (p.Glu515Val)
c.449A>T (p.Glu150Val)
1g.9264011G>ACA416031841H6PDc.1518G>A (p.Glu506=)
c.1551G>A (p.Glu517=)
c.1545G>A (p.Glu515=)
c.450G>A (p.Glu150=)
 gnomAD v4
1g.9264011G>CCA338193208H6PDc.1518G>C (p.Glu506Asp)
c.1551G>C (p.Glu517Asp)
c.1545G>C (p.Glu515Asp)
c.450G>C (p.Glu150Asp)
 gnomAD v4
1g.9264011G>TCA338193209H6PDc.1518G>T (p.Glu506Asp)
c.1551G>T (p.Glu517Asp)
c.1545G>T (p.Glu515Asp)
c.450G>T (p.Glu150Asp)
1g.9264012A>CCA338193210H6PDc.1519A>C (p.Asn507His)
c.1552A>C (p.Asn518His)
c.1546A>C (p.Asn516His)
c.451A>C (p.Asn151His)
1g.9264012A>GCA338193211H6PDc.1519A>G (p.Asn507Asp)
c.1552A>G (p.Asn518Asp)
c.1546A>G (p.Asn516Asp)
c.451A>G (p.Asn151Asp)
1g.9264012A>TCA338193212H6PDc.1519A>T (p.Asn507Tyr)
c.1552A>T (p.Asn518Tyr)
c.1546A>T (p.Asn516Tyr)
c.451A>T (p.Asn151Tyr)
1g.9264013A>CCA338193214H6PDc.1520A>C (p.Asn507Thr)
c.1553A>C (p.Asn518Thr)
c.1547A>C (p.Asn516Thr)
c.452A>C (p.Asn151Thr)
1g.9264013A>GCA338193215H6PDc.1520A>G (p.Asn507Ser)
c.1553A>G (p.Asn518Ser)
c.1547A>G (p.Asn516Ser)
c.452A>G (p.Asn151Ser)
1g.9264013A>TCA338193213H6PDc.1520A>T (p.Asn507Ile)
c.1553A>T (p.Asn518Ile)
c.1547A>T (p.Asn516Ile)
c.452A>T (p.Asn151Ile)
1g.9264014T>ACA338193216H6PDc.1521T>A (p.Asn507Lys)
c.1554T>A (p.Asn518Lys)
c.1548T>A (p.Asn516Lys)
c.453T>A (p.Asn151Lys)
1g.9264014T>CCA575327H6PDc.1521T>C (p.Asn507=)
c.1554T>C (p.Asn518=)
c.1548T>C (p.Asn516=)
c.453T>C (p.Asn151=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264014T>GCA338193217H6PDc.1521T>G (p.Asn507Lys)
c.1554T>G (p.Asn518Lys)
c.1548T>G (p.Asn516Lys)
c.453T>G (p.Asn151Lys)
1g.9264014T=CA1152693361H6PDc.1521T= (p.Asn507=)
c.1554T= (p.Asn518=)
c.1548T= (p.Asn516=)
c.453T= (p.Asn151=)
1g.9264015G>ACA575328H6PDc.1522G>A (p.Gly508Ser)
c.1555G>A (p.Gly519Ser)
c.1549G>A (p.Gly517Ser)
c.454G>A (p.Gly152Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264015G>CCA338193218H6PDc.1522G>C (p.Gly508Arg)
c.1555G>C (p.Gly519Arg)
c.1549G>C (p.Gly517Arg)
c.454G>C (p.Gly152Arg)
1g.9264015G=CA1146422230H6PDc.1522G= (p.Gly508=)
c.1555G= (p.Gly519=)
c.1549G= (p.Gly517=)
c.454G= (p.Gly152=)
1g.9264015G>TCA338193219H6PDc.1522G>T (p.Gly508Cys)
c.1555G>T (p.Gly519Cys)
c.1549G>T (p.Gly517Cys)
c.454G>T (p.Gly152Cys)
1g.9264016G>ACA575329H6PDc.1523G>A (p.Gly508Asp)
c.1556G>A (p.Gly519Asp)
c.1550G>A (p.Gly517Asp)
c.455G>A (p.Gly152Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.9264016G>CCA338193220H6PDc.1523G>C (p.Gly508Ala)
c.1556G>C (p.Gly519Ala)
c.1550G>C (p.Gly517Ala)
c.455G>C (p.Gly152Ala)
1g.9264016G=CA1142729313H6PDc.1523G= (p.Gly508=)
c.1556G= (p.Gly519=)
c.1550G= (p.Gly517=)
c.455G= (p.Gly152=)
1g.9264016G>TCA338193221H6PDc.1523G>T (p.Gly508Val)
c.1556G>T (p.Gly519Val)
c.1550G>T (p.Gly517Val)
c.455G>T (p.Gly152Val)
1g.9264017C>ACA416031849H6PDc.1524C>A (p.Gly508=)
c.1557C>A (p.Gly519=)
c.1551C>A (p.Gly517=)
c.456C>A (p.Gly152=)
1g.9264017C>GCA416031850H6PDc.1524C>G (p.Gly508=)
c.1557C>G (p.Gly519=)
c.1551C>G (p.Gly517=)
c.456C>G (p.Gly152=)
1g.9264017C>TCA416031851H6PDc.1524C>T (p.Gly508=)
c.1557C>T (p.Gly519=)
c.1551C>T (p.Gly517=)
c.456C>T (p.Gly152=)
1g.9264018C>ACA338193222H6PDc.1525C>A (p.Arg509Ser)
c.1558C>A (p.Arg520Ser)
c.1552C>A (p.Arg518Ser)
c.457C>A (p.Arg153Ser)
1g.9264018C=CA1145575999H6PDc.1525C= (p.Arg509=)
c.1558C= (p.Arg520=)
c.1552C= (p.Arg518=)
c.457C= (p.Arg153=)
1g.9264018C>GCA338193223H6PDc.1525C>G (p.Arg509Gly)
c.1558C>G (p.Arg520Gly)
c.1552C>G (p.Arg518Gly)
c.457C>G (p.Arg153Gly)
1g.9264018C>TCA575330H6PDc.1525C>T (p.Arg509Cys)
c.1558C>T (p.Arg520Cys)
c.1552C>T (p.Arg518Cys)
c.457C>T (p.Arg153Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264019G>ACA575331H6PDc.1526G>A (p.Arg509His)
c.1559G>A (p.Arg520His)
c.1553G>A (p.Arg518His)
c.458G>A (p.Arg153His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.9264019G>CCA338193225H6PDc.1526G>C (p.Arg509Pro)
c.1559G>C (p.Arg520Pro)
c.1553G>C (p.Arg518Pro)
c.458G>C (p.Arg153Pro)
1g.9264019G=CA1141883271H6PDc.1526G= (p.Arg509=)
c.1559G= (p.Arg520=)
c.1553G= (p.Arg518=)
c.458G= (p.Arg153=)
1g.9264019G>TCA338193224H6PDc.1526G>T (p.Arg509Leu)
c.1559G>T (p.Arg520Leu)
c.1553G>T (p.Arg518Leu)
c.458G>T (p.Arg153Leu)
1g.9264020T>ACA416031865H6PDc.1527T>A (p.Arg509=)
c.1560T>A (p.Arg520=)
c.1554T>A (p.Arg518=)
c.459T>A (p.Arg153=)
1g.9264020T>CCA416031867H6PDc.1527T>C (p.Arg509=)
c.1560T>C (p.Arg520=)
c.1554T>C (p.Arg518=)
c.459T>C (p.Arg153=)
 dbSNP gnomAD v3 gnomAD v4
1g.9264020T>GCA416031868H6PDc.1527T>G (p.Arg509=)
c.1560T>G (p.Arg520=)
c.1554T>G (p.Arg518=)
c.459T>G (p.Arg153=)
1g.9264020T=CA1152693393H6PDc.1527T= (p.Arg509=)
c.1560T= (p.Arg520=)
c.1554T= (p.Arg518=)
c.459T= (p.Arg153=)
1g.9264021C>ACA338193226H6PDc.1528C>A (p.Leu510Met)
c.1561C>A (p.Leu521Met)
c.1555C>A (p.Leu519Met)
c.460C>A (p.Leu154Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264021C=CA1152693399H6PDc.1528C= (p.Leu510=)
c.1561C= (p.Leu521=)
c.1555C= (p.Leu519=)
c.460C= (p.Leu154=)
1g.9264021C>GCA575333H6PDc.1528C>G (p.Leu510Val)
c.1561C>G (p.Leu521Val)
c.1555C>G (p.Leu519Val)
c.460C>G (p.Leu154Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264021C>TCA575332H6PDc.1528C>T (p.Leu510=)
c.1561C>T (p.Leu521=)
c.1555C>T (p.Leu519=)
c.460C>T (p.Leu154=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264022T>ACA338193227H6PDc.1529T>A (p.Leu510Gln)
c.1562T>A (p.Leu521Gln)
c.1556T>A (p.Leu519Gln)
c.461T>A (p.Leu154Gln)
1g.9264022T>CCA338193228H6PDc.1529T>C (p.Leu510Pro)
c.1562T>C (p.Leu521Pro)
c.1556T>C (p.Leu519Pro)
c.461T>C (p.Leu154Pro)
1g.9264022T>GCA338193229H6PDc.1529T>G (p.Leu510Arg)
c.1562T>G (p.Leu521Arg)
c.1556T>G (p.Leu519Arg)
c.461T>G (p.Leu154Arg)
1g.9264023G>ACA416031878H6PDc.1530G>A (p.Leu510=)
c.1563G>A (p.Leu521=)
c.1557G>A (p.Leu519=)
c.462G>A (p.Leu154=)
 gnomAD v4
1g.9264023G>CCA416031877H6PDc.1530G>C (p.Leu510=)
c.1563G>C (p.Leu521=)
c.1557G>C (p.Leu519=)
c.462G>C (p.Leu154=)
1g.9264023G=CA1152693405H6PDc.1530G= (p.Leu510=)
c.1563G= (p.Leu521=)
c.1557G= (p.Leu519=)
c.462G= (p.Leu154=)
1g.9264023G>TCA416031875H6PDc.1530G>T (p.Leu510=)
c.1563G>T (p.Leu521=)
c.1557G>T (p.Leu519=)
c.462G>T (p.Leu154=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.9264024T>ACA338193231H6PDc.1531T>A (p.Leu511Met)
c.1564T>A (p.Leu522Met)
c.1558T>A (p.Leu520Met)
c.463T>A (p.Leu155Met)
1g.9264024T>CCA575334H6PDc.1531T>C (p.Leu511=)
c.1564T>C (p.Leu522=)
c.1558T>C (p.Leu520=)
c.463T>C (p.Leu155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264024T>GCA338193230H6PDc.1531T>G (p.Leu511Val)
c.1564T>G (p.Leu522Val)
c.1558T>G (p.Leu520Val)
c.463T>G (p.Leu155Val)
1g.9264024T=CA1142228843H6PDc.1531T= (p.Leu511=)
c.1564T= (p.Leu522=)
c.1558T= (p.Leu520=)
c.463T= (p.Leu155=)
1g.9264025T>ACA338193232H6PDc.1532T>A (p.Leu511Ter)
c.1565T>A (p.Leu522Ter)
c.1559T>A (p.Leu520Ter)
c.464T>A (p.Leu155Ter)
1g.9264025T>CCA17751007H6PDc.1532T>C (p.Leu511Ser)
c.1565T>C (p.Leu522Ser)
c.1559T>C (p.Leu520Ser)
c.464T>C (p.Leu155Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264025T>GCA338193233H6PDc.1532T>G (p.Leu511Trp)
c.1565T>G (p.Leu522Trp)
c.1559T>G (p.Leu520Trp)
c.464T>G (p.Leu155Trp)
1g.9264025T=CA1152693416H6PDc.1532T= (p.Leu511=)
c.1565T= (p.Leu522=)
c.1559T= (p.Leu520=)
c.464T= (p.Leu155=)
1g.9264026G>ACA416031885H6PDc.1533G>A (p.Leu511=)
c.1566G>A (p.Leu522=)
c.1560G>A (p.Leu520=)
c.465G>A (p.Leu155=)
1g.9264026G>CCA338193234H6PDc.1533G>C (p.Leu511Phe)
c.1566G>C (p.Leu522Phe)
c.1560G>C (p.Leu520Phe)
c.465G>C (p.Leu155Phe)
1g.9264026G>TCA338193235H6PDc.1533G>T (p.Leu511Phe)
c.1566G>T (p.Leu522Phe)
c.1560G>T (p.Leu520Phe)
c.465G>T (p.Leu155Phe)
1g.9264027G>ACA338193236H6PDc.1534G>A (p.Asp512Asn)
c.1567G>A (p.Asp523Asn)
c.1561G>A (p.Asp521Asn)
c.466G>A (p.Asp156Asn)
 gnomAD v4
1g.9264027G>CCA338193238H6PDc.1534G>C (p.Asp512His)
c.1567G>C (p.Asp523His)
c.1561G>C (p.Asp521His)
c.466G>C (p.Asp156His)
1g.9264027G>TCA338193237H6PDc.1534G>T (p.Asp512Tyr)
c.1567G>T (p.Asp523Tyr)
c.1561G>T (p.Asp521Tyr)
c.466G>T (p.Asp156Tyr)
1g.9264028A>CCA338193239H6PDc.1535A>C (p.Asp512Ala)
c.1568A>C (p.Asp523Ala)
c.1562A>C (p.Asp521Ala)
c.467A>C (p.Asp156Ala)
1g.9264028A>GCA338193241H6PDc.1535A>G (p.Asp512Gly)
c.1568A>G (p.Asp523Gly)
c.1562A>G (p.Asp521Gly)
c.467A>G (p.Asp156Gly)
1g.9264028A>TCA338193240H6PDc.1535A>T (p.Asp512Val)
c.1568A>T (p.Asp523Val)
c.1562A>T (p.Asp521Val)
c.467A>T (p.Asp156Val)
1g.9264029C>ACA338193242H6PDc.1536C>A (p.Asp512Glu)
c.1569C>A (p.Asp523Glu)
c.1563C>A (p.Asp521Glu)
c.468C>A (p.Asp156Glu)
1g.9264029C=CA1152693423H6PDc.1536C= (p.Asp512=)
c.1569C= (p.Asp523=)
c.1563C= (p.Asp521=)
c.468C= (p.Asp156=)
1g.9264029C>GCA338193243H6PDc.1536C>G (p.Asp512Glu)
c.1569C>G (p.Asp523Glu)
c.1563C>G (p.Asp521Glu)
c.468C>G (p.Asp156Glu)
 gnomAD v4
1g.9264029C>TCA416031894H6PDc.1536C>T (p.Asp512=)
c.1569C>T (p.Asp523=)
c.1563C>T (p.Asp521=)
c.468C>T (p.Asp156=)
 dbSNP
1g.9264029_9264030delinsCTCA1152693433H6PDc.1536_1537delinsCT (p.Asp512=)
c.1569_1570delinsCT (p.Asp523=)
c.1563_1564delinsCT (p.Asp521=)
c.468_469delinsCT (p.Asp156=)
1g.9264030T>ACA338193244H6PDc.1537T>A (p.Phe513Ile)
c.1570T>A (p.Phe524Ile)
c.1564T>A (p.Phe522Ile)
c.469T>A (p.Phe157Ile)
1g.9264030T>CCA338193245H6PDc.1537T>C (p.Phe513Leu)
c.1570T>C (p.Phe524Leu)
c.1564T>C (p.Phe522Leu)
c.469T>C (p.Phe157Leu)
 dbSNP
1g.9264030T>GCA338193246H6PDc.1537T>G (p.Phe513Val)
c.1570T>G (p.Phe524Val)
c.1564T>G (p.Phe522Val)
c.469T>G (p.Phe157Val)
1g.9264030T=CA1152693438H6PDc.1537T= (p.Phe513=)
c.1570T= (p.Phe524=)
c.1564T= (p.Phe522=)
c.469T= (p.Phe157=)
1g.9264032delCA1152693437H6PDc.1539del (p.Phe513LeufsTer?)
c.1572del (p.Phe524LeufsTer?)
c.1566del (p.Phe522LeufsTer?)
c.471del (p.Phe157LeufsTer?)
 dbSNP
1g.9264031T>ACA338193247H6PDc.1538T>A (p.Phe513Tyr)
c.1571T>A (p.Phe524Tyr)
c.1565T>A (p.Phe522Tyr)
c.470T>A (p.Phe157Tyr)
1g.9264031T>CCA338193248H6PDc.1538T>C (p.Phe513Ser)
c.1571T>C (p.Phe524Ser)
c.1565T>C (p.Phe522Ser)
c.470T>C (p.Phe157Ser)
 gnomAD v4
1g.9264031T>GCA338193249H6PDc.1538T>G (p.Phe513Cys)
c.1571T>G (p.Phe524Cys)
c.1565T>G (p.Phe522Cys)
c.470T>G (p.Phe157Cys)
1g.9264031T=CA1152693441H6PDc.1538T= (p.Phe513=)
c.1571T= (p.Phe524=)
c.1565T= (p.Phe522=)
c.470T= (p.Phe157=)
1g.9264032T>ACA338193250H6PDc.1539T>A (p.Phe513Leu)
c.1572T>A (p.Phe524Leu)
c.1566T>A (p.Phe522Leu)
c.471T>A (p.Phe157Leu)
 gnomAD v4
1g.9264032T>CCA416031900H6PDc.1539T>C (p.Phe513=)
c.1572T>C (p.Phe524=)
c.1566T>C (p.Phe522=)
c.471T>C (p.Phe157=)
 dbSNP gnomAD v4
1g.9264032T>GCA338193251H6PDc.1539T>G (p.Phe513Leu)
c.1572T>G (p.Phe524Leu)
c.1566T>G (p.Phe522Leu)
c.471T>G (p.Phe157Leu)
 dbSNP gnomAD v4
1g.9264032T=CA1152693483H6PDc.1539T= (p.Phe513=)
c.1572T= (p.Phe524=)
c.1566T= (p.Phe522=)
c.471T= (p.Phe157=)
1g.9264032_9264033insATCA1152693443H6PDc.1539_1540insAT (p.Glu514MetfsTer?)
c.1572_1573insAT (p.Glu525MetfsTer?)
c.1566_1567insAT (p.Glu523MetfsTer?)
c.471_472insAT (p.Glu158MetfsTer?)
 dbSNP
1g.9264033G>ACA575335H6PDc.1540G>A (p.Glu514Lys)
c.1573G>A (p.Glu525Lys)
c.1567G>A (p.Glu523Lys)
c.472G>A (p.Glu158Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264033G>CCA17751014H6PDc.1540G>C (p.Glu514Gln)
c.1573G>C (p.Glu525Gln)
c.1567G>C (p.Glu523Gln)
c.472G>C (p.Glu158Gln)
 dbSNP
1g.9264033G=CA1141766166H6PDc.1540G= (p.Glu514=)
c.1573G= (p.Glu525=)
c.1567G= (p.Glu523=)
c.472G= (p.Glu158=)
1g.9264033G>TCA338193252H6PDc.1540G>T (p.Glu514Ter)
c.1573G>T (p.Glu525Ter)
c.1567G>T (p.Glu523Ter)
c.472G>T (p.Glu158Ter)
1g.9264034A>CCA338193255H6PDc.1541A>C (p.Glu514Ala)
c.1574A>C (p.Glu525Ala)
c.1568A>C (p.Glu523Ala)
c.473A>C (p.Glu158Ala)
1g.9264034A>GCA338193253H6PDc.1541A>G (p.Glu514Gly)
c.1574A>G (p.Glu525Gly)
c.1568A>G (p.Glu523Gly)
c.473A>G (p.Glu158Gly)
1g.9264034A>TCA338193254H6PDc.1541A>T (p.Glu514Val)
c.1574A>T (p.Glu525Val)
c.1568A>T (p.Glu523Val)
c.473A>T (p.Glu158Val)
1g.9264035G>ACA416031903H6PDc.1542G>A (p.Glu514=)
c.1575G>A (p.Glu525=)
c.1569G>A (p.Glu523=)
c.474G>A (p.Glu158=)
1g.9264035G>CCA338193256H6PDc.1542G>C (p.Glu514Asp)
c.1575G>C (p.Glu525Asp)
c.1569G>C (p.Glu523Asp)
c.474G>C (p.Glu158Asp)
 gnomAD v4
1g.9264035G>TCA338193257H6PDc.1542G>T (p.Glu514Asp)
c.1575G>T (p.Glu525Asp)
c.1569G>T (p.Glu523Asp)
c.474G>T (p.Glu158Asp)
1g.9264036T>ACA338193258H6PDc.1543T>A (p.Phe515Ile)
c.1576T>A (p.Phe526Ile)
c.1570T>A (p.Phe524Ile)
c.475T>A (p.Phe159Ile)
1g.9264036T>CCA338193259H6PDc.1543T>C (p.Phe515Leu)
c.1576T>C (p.Phe526Leu)
c.1570T>C (p.Phe524Leu)
c.475T>C (p.Phe159Leu)
1g.9264036T>GCA338193260H6PDc.1543T>G (p.Phe515Val)
c.1576T>G (p.Phe526Val)
c.1570T>G (p.Phe524Val)
c.475T>G (p.Phe159Val)
1g.9264037T>ACA338193261H6PDc.1544T>A (p.Phe515Tyr)
c.1577T>A (p.Phe526Tyr)
c.1571T>A (p.Phe524Tyr)
c.476T>A (p.Phe159Tyr)
1g.9264037T>CCA338193262H6PDc.1544T>C (p.Phe515Ser)
c.1577T>C (p.Phe526Ser)
c.1571T>C (p.Phe524Ser)
c.476T>C (p.Phe159Ser)
 dbSNP gnomAD v4
1g.9264037T>GCA338193263H6PDc.1544T>G (p.Phe515Cys)
c.1577T>G (p.Phe526Cys)
c.1571T>G (p.Phe524Cys)
c.476T>G (p.Phe159Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.9264037T=CA1152693498H6PDc.1544T= (p.Phe515=)
c.1577T= (p.Phe526=)
c.1571T= (p.Phe524=)
c.476T= (p.Phe159=)
1g.9264038C>ACA338193264H6PDc.1545C>A (p.Phe515Leu)
c.1578C>A (p.Phe526Leu)
c.1572C>A (p.Phe524Leu)
c.477C>A (p.Phe159Leu)
1g.9264038C=CA1152693507H6PDc.1545C= (p.Phe515=)
c.1578C= (p.Phe526=)
c.1572C= (p.Phe524=)
c.477C= (p.Phe159=)
1g.9264038C>GCA338193265H6PDc.1545C>G (p.Phe515Leu)
c.1578C>G (p.Phe526Leu)
c.1572C>G (p.Phe524Leu)
c.477C>G (p.Phe159Leu)
1g.9264038C>TCA575336H6PDc.1545C>T (p.Phe515=)
c.1578C>T (p.Phe526=)
c.1572C>T (p.Phe524=)
c.477C>T (p.Phe159=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264039A>CCA338193267H6PDc.1546A>C (p.Ser516Arg)
c.1579A>C (p.Ser527Arg)
c.1573A>C (p.Ser525Arg)
c.478A>C (p.Ser160Arg)
1g.9264039A>GCA338193268H6PDc.1546A>G (p.Ser516Gly)
c.1579A>G (p.Ser527Gly)
c.1573A>G (p.Ser525Gly)
c.478A>G (p.Ser160Gly)
1g.9264039A>TCA338193266H6PDc.1546A>T (p.Ser516Cys)
c.1579A>T (p.Ser527Cys)
c.1573A>T (p.Ser525Cys)
c.478A>T (p.Ser160Cys)
1g.9264040G>ACA338193269H6PDc.1547G>A (p.Ser516Asn)
c.1580G>A (p.Ser527Asn)
c.1574G>A (p.Ser525Asn)
c.479G>A (p.Ser160Asn)
1g.9264040G>CCA338193270H6PDc.1547G>C (p.Ser516Thr)
c.1580G>C (p.Ser527Thr)
c.1574G>C (p.Ser525Thr)
c.479G>C (p.Ser160Thr)
 gnomAD v4
1g.9264040G>TCA338193271H6PDc.1547G>T (p.Ser516Ile)
c.1580G>T (p.Ser527Ile)
c.1574G>T (p.Ser525Ile)
c.479G>T (p.Ser160Ile)
1g.9264041T>ACA338193272H6PDc.1548T>A (p.Ser516Arg)
c.1581T>A (p.Ser527Arg)
c.1575T>A (p.Ser525Arg)
c.480T>A (p.Ser160Arg)
1g.9264041T>CCA416031921H6PDc.1548T>C (p.Ser516=)
c.1581T>C (p.Ser527=)
c.1575T>C (p.Ser525=)
c.480T>C (p.Ser160=)
1g.9264041T>GCA338193273H6PDc.1548T>G (p.Ser516Arg)
c.1581T>G (p.Ser527Arg)
c.1575T>G (p.Ser525Arg)
c.480T>G (p.Ser160Arg)
1g.9264042A>CCA338193274H6PDc.1549A>C (p.Ser517Arg)
c.1582A>C (p.Ser528Arg)
c.1576A>C (p.Ser526Arg)
c.481A>C (p.Ser161Arg)
1g.9264042A>GCA338193275H6PDc.1549A>G (p.Ser517Gly)
c.1582A>G (p.Ser528Gly)
c.1576A>G (p.Ser526Gly)
c.481A>G (p.Ser161Gly)
 gnomAD v4
1g.9264042A>TCA338193276H6PDc.1549A>T (p.Ser517Cys)
c.1582A>T (p.Ser528Cys)
c.1576A>T (p.Ser526Cys)
c.481A>T (p.Ser161Cys)
1g.9264043G>ACA338193277H6PDc.1550G>A (p.Ser517Asn)
c.1583G>A (p.Ser528Asn)
c.1577G>A (p.Ser526Asn)
c.482G>A (p.Ser161Asn)
 gnomAD v4
1g.9264043G>CCA338193278H6PDc.1550G>C (p.Ser517Thr)
c.1583G>C (p.Ser528Thr)
c.1577G>C (p.Ser526Thr)
c.482G>C (p.Ser161Thr)
1g.9264043G>TCA338193279H6PDc.1550G>T (p.Ser517Ile)
c.1583G>T (p.Ser528Ile)
c.1577G>T (p.Ser526Ile)
c.482G>T (p.Ser161Ile)
1g.9264044C>ACA338193280H6PDc.1551C>A (p.Ser517Arg)
c.1584C>A (p.Ser528Arg)
c.1578C>A (p.Ser526Arg)
c.483C>A (p.Ser161Arg)
1g.9264044C=CA1143588115H6PDc.1551C= (p.Ser517=)
c.1584C= (p.Ser528=)
c.1578C= (p.Ser526=)
c.483C= (p.Ser161=)
1g.9264044C>GCA338193281H6PDc.1551C>G (p.Ser517Arg)
c.1584C>G (p.Ser528Arg)
c.1578C>G (p.Ser526Arg)
c.483C>G (p.Ser161Arg)
1g.9264044C>TCA575337H6PDc.1551C>T (p.Ser517=)
c.1584C>T (p.Ser528=)
c.1578C>T (p.Ser526=)
c.483C>T (p.Ser161=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264045G>ACA575338H6PDc.1552G>A (p.Gly518Ser)
c.1585G>A (p.Gly529Ser)
c.1579G>A (p.Gly527Ser)
c.484G>A (p.Gly162Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264045G>CCA338193282H6PDc.1552G>C (p.Gly518Arg)
c.1585G>C (p.Gly529Arg)
c.1579G>C (p.Gly527Arg)
c.484G>C (p.Gly162Arg)
1g.9264045G=CA1142180157H6PDc.1552G= (p.Gly518=)
c.1585G= (p.Gly529=)
c.1579G= (p.Gly527=)
c.484G= (p.Gly162=)
1g.9264045G>TCA338193283H6PDc.1552G>T (p.Gly518Cys)
c.1585G>T (p.Gly529Cys)
c.1579G>T (p.Gly527Cys)
c.484G>T (p.Gly162Cys)
1g.9264046G>ACA338193284H6PDc.1553G>A (p.Gly518Asp)
c.1586G>A (p.Gly529Asp)
c.1580G>A (p.Gly527Asp)
c.485G>A (p.Gly162Asp)
1g.9264046G>CCA338193285H6PDc.1553G>C (p.Gly518Ala)
c.1586G>C (p.Gly529Ala)
c.1580G>C (p.Gly527Ala)
c.485G>C (p.Gly162Ala)
1g.9264046G>TCA338193286H6PDc.1553G>T (p.Gly518Val)
c.1586G>T (p.Gly529Val)
c.1580G>T (p.Gly527Val)
c.485G>T (p.Gly162Val)
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.9264047C>ACA416031930H6PDc.1554C>A (p.Gly518=)
c.1587C>A (p.Gly529=)
c.1581C>A (p.Gly527=)
c.486C>A (p.Gly162=)
 dbSNP gnomAD v3 gnomAD v4
1g.9264047C>GCA416031931H6PDc.1554C>G (p.Gly518=)
c.1587C>G (p.Gly529=)
c.1581C>G (p.Gly527=)
c.486C>G (p.Gly162=)
1g.9264047C>TCA416031932H6PDc.1554C>T (p.Gly518=)
c.1587C>T (p.Gly529=)
c.1581C>T (p.Gly527=)
c.486C>T (p.Gly162=)
 COSMIC
1g.9264048C>ACA416031934H6PDc.1555C>A (p.Arg519=)
c.1588C>A (p.Arg530=)
c.1582C>A (p.Arg528=)
c.487C>A (p.Arg163=)
1g.9264048C=CA1140593702H6PDc.1555C= (p.Arg519=)
c.1588C= (p.Arg530=)
c.1582C= (p.Arg528=)
c.487C= (p.Arg163=)
1g.9264048C>GCA338193287H6PDc.1555C>G (p.Arg519Gly)
c.1588C>G (p.Arg530Gly)
c.1582C>G (p.Arg528Gly)
c.487C>G (p.Arg163Gly)
1g.9264048C>TCA575339H6PDc.1555C>T (p.Arg519Trp)
c.1588C>T (p.Arg530Trp)
c.1582C>T (p.Arg528Trp)
c.487C>T (p.Arg163Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.9264049G>ACA575340H6PDc.1556G>A (p.Arg519Gln)
c.1589G>A (p.Arg530Gln)
c.1583G>A (p.Arg528Gln)
c.488G>A (p.Arg163Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264049G>CCA338193288H6PDc.1556G>C (p.Arg519Pro)
c.1589G>C (p.Arg530Pro)
c.1583G>C (p.Arg528Pro)
c.488G>C (p.Arg163Pro)
1g.9264049G=CA1143384409H6PDc.1556G= (p.Arg519=)
c.1589G= (p.Arg530=)
c.1583G= (p.Arg528=)
c.488G= (p.Arg163=)
1g.9264049G>TCA338193289H6PDc.1556G>T (p.Arg519Leu)
c.1589G>T (p.Arg530Leu)
c.1583G>T (p.Arg528Leu)
c.488G>T (p.Arg163Leu)
 gnomAD v4
1g.9264049_9264052delinsGGTTCA1152693516H6PDc.1556_1559delinsGGTT (p.Arg519=)
c.1589_1592delinsGGTT (p.Arg530=)
c.1583_1586delinsGGTT (p.Arg528=)
c.488_491delinsGGTT (p.Arg163=)
1g.9264050G>ACA575342H6PDc.1557G>A (p.Arg519=)
c.1590G>A (p.Arg530=)
c.1584G>A (p.Arg528=)
c.489G>A (p.Arg163=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264050G>CCA416031940H6PDc.1557G>C (p.Arg519=)
c.1590G>C (p.Arg530=)
c.1584G>C (p.Arg528=)
c.489G>C (p.Arg163=)
1g.9264050G=CA1148878495H6PDc.1557G= (p.Arg519=)
c.1590G= (p.Arg530=)
c.1584G= (p.Arg528=)
c.489G= (p.Arg163=)
1g.9264050G>TCA416031941H6PDc.1557G>T (p.Arg519=)
c.1590G>T (p.Arg530=)
c.1584G>T (p.Arg528=)
c.489G>T (p.Arg163=)
1g.9264053_9264055delCA575341H6PDc.1560_1562del (p.Leu520del)
c.1593_1595del (p.Leu531del)
c.1587_1589del (p.Leu529del)
c.492_494del (p.Leu164del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264051T>ACA338193291H6PDc.1558T>A (p.Leu520Met)
c.1591T>A (p.Leu531Met)
c.1585T>A (p.Leu529Met)
c.490T>A (p.Leu164Met)
1g.9264051T>CCA575343H6PDc.1558T>C (p.Leu520=)
c.1591T>C (p.Leu531=)
c.1585T>C (p.Leu529=)
c.490T>C (p.Leu164=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264051T>GCA338193290H6PDc.1558T>G (p.Leu520Val)
c.1591T>G (p.Leu531Val)
c.1585T>G (p.Leu529Val)
c.490T>G (p.Leu164Val)
1g.9264051T=CA1152693531H6PDc.1558T= (p.Leu520=)
c.1591T= (p.Leu531=)
c.1585T= (p.Leu529=)
c.490T= (p.Leu164=)
1g.9264052T>ACA338193292H6PDc.1559T>A (p.Leu520Ter)
c.1592T>A (p.Leu531Ter)
c.1586T>A (p.Leu529Ter)
c.491T>A (p.Leu164Ter)
1g.9264052T>CCA338193293H6PDc.1559T>C (p.Leu520Ser)
c.1592T>C (p.Leu531Ser)
c.1586T>C (p.Leu529Ser)
c.491T>C (p.Leu164Ser)
1g.9264052T>GCA575344H6PDc.1559T>G (p.Leu520Trp)
c.1592T>G (p.Leu531Trp)
c.1586T>G (p.Leu529Trp)
c.491T>G (p.Leu164Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264052T=CA1143867715H6PDc.1559T= (p.Leu520=)
c.1592T= (p.Leu531=)
c.1586T= (p.Leu529=)
c.491T= (p.Leu164=)
1g.9264053G>ACA416031950H6PDc.1560G>A (p.Leu520=)
c.1593G>A (p.Leu531=)
c.1587G>A (p.Leu529=)
c.492G>A (p.Leu164=)
 dbSNP gnomAD v4
1g.9264053G>CCA338193294H6PDc.1560G>C (p.Leu520Phe)
c.1593G>C (p.Leu531Phe)
c.1587G>C (p.Leu529Phe)
c.492G>C (p.Leu164Phe)
1g.9264053G=CA1152693551H6PDc.1560G= (p.Leu520=)
c.1593G= (p.Leu531=)
c.1587G= (p.Leu529=)
c.492G= (p.Leu164=)
1g.9264053G>TCA338193295H6PDc.1560G>T (p.Leu520Phe)
c.1593G>T (p.Leu531Phe)
c.1587G>T (p.Leu529Phe)
c.492G>T (p.Leu164Phe)
 gnomAD v4
1g.9264053_9264056delinsGTTCCA1152693541H6PDc.1560_1563delinsGTTC (p.Leu520=)
c.1593_1596delinsGTTC (p.Leu531=)
c.1587_1590delinsGTTC (p.Leu529=)
c.492_495delinsGTTC (p.Leu164=)
1g.9264054T>ACA338193296H6PDc.1561T>A (p.Phe521Ile)
c.1594T>A (p.Phe532Ile)
c.1588T>A (p.Phe530Ile)
c.493T>A (p.Phe165Ile)
1g.9264054T>CCA338193297H6PDc.1561T>C (p.Phe521Leu)
c.1594T>C (p.Phe532Leu)
c.1588T>C (p.Phe530Leu)
c.493T>C (p.Phe165Leu)
1g.9264054T>GCA338193298H6PDc.1561T>G (p.Phe521Val)
c.1594T>G (p.Phe532Val)
c.1588T>G (p.Phe530Val)
c.493T>G (p.Phe165Val)
1g.9264056_9264058delCA521451660H6PDc.1563_1565del (p.Phe522del)
c.1596_1598del (p.Phe533del)
c.1590_1592del (p.Phe531del)
c.495_497del (p.Phe166del)
 dbSNP gnomAD v2 gnomAD v4
1g.9264055T>ACA338193299H6PDc.1562T>A (p.Phe521Tyr)
c.1595T>A (p.Phe532Tyr)
c.1589T>A (p.Phe530Tyr)
c.494T>A (p.Phe165Tyr)
1g.9264055T>CCA338193300H6PDc.1562T>C (p.Phe521Ser)
c.1595T>C (p.Phe532Ser)
c.1589T>C (p.Phe530Ser)
c.494T>C (p.Phe165Ser)
 gnomAD v4
1g.9264055T>GCA338193301H6PDc.1562T>G (p.Phe521Cys)
c.1595T>G (p.Phe532Cys)
c.1589T>G (p.Phe530Cys)
c.494T>G (p.Phe165Cys)
1g.9264056C>ACA338193302H6PDc.1563C>A (p.Phe521Leu)
c.1596C>A (p.Phe532Leu)
c.1590C>A (p.Phe530Leu)
c.495C>A (p.Phe165Leu)
1g.9264056C>GCA338193303H6PDc.1563C>G (p.Phe521Leu)
c.1596C>G (p.Phe532Leu)
c.1590C>G (p.Phe530Leu)
c.495C>G (p.Phe165Leu)
1g.9264056C>TCA416031957H6PDc.1563C>T (p.Phe521=)
c.1596C>T (p.Phe532=)
c.1590C>T (p.Phe530=)
c.495C>T (p.Phe165=)
1g.9264057T>ACA338193305H6PDc.1564T>A (p.Phe522Ile)
c.1597T>A (p.Phe533Ile)
c.1591T>A (p.Phe531Ile)
c.496T>A (p.Phe166Ile)
1g.9264057T>CCA575345H6PDc.1564T>C (p.Phe522Leu)
c.1597T>C (p.Phe533Leu)
c.1591T>C (p.Phe531Leu)
c.496T>C (p.Phe166Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264057T>GCA338193304H6PDc.1564T>G (p.Phe522Val)
c.1597T>G (p.Phe533Val)
c.1591T>G (p.Phe531Val)
c.496T>G (p.Phe166Val)
1g.9264057T=CA1152693558H6PDc.1564T= (p.Phe522=)
c.1597T= (p.Phe533=)
c.1591T= (p.Phe531=)
c.496T= (p.Phe166=)
1g.9264058T>ACA338193306H6PDc.1565T>A (p.Phe522Tyr)
c.1598T>A (p.Phe533Tyr)
c.1592T>A (p.Phe531Tyr)
c.497T>A (p.Phe166Tyr)
1g.9264058T>CCA338193307H6PDc.1565T>C (p.Phe522Ser)
c.1598T>C (p.Phe533Ser)
c.1592T>C (p.Phe531Ser)
c.497T>C (p.Phe166Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264058T>GCA338193308H6PDc.1565T>G (p.Phe522Cys)
c.1598T>G (p.Phe533Cys)
c.1592T>G (p.Phe531Cys)
c.497T>G (p.Phe166Cys)
1g.9264058T=CA1152693593H6PDc.1565T= (p.Phe522=)
c.1598T= (p.Phe533=)
c.1592T= (p.Phe531=)
c.497T= (p.Phe166=)
1g.9264059T>ACA338193309H6PDc.1566T>A (p.Phe522Leu)
c.1599T>A (p.Phe533Leu)
c.1593T>A (p.Phe531Leu)
c.498T>A (p.Phe166Leu)
1g.9264059T>CCA416031964H6PDc.1566T>C (p.Phe522=)
c.1599T>C (p.Phe533=)
c.1593T>C (p.Phe531=)
c.498T>C (p.Phe166=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264059T>GCA338193310H6PDc.1566T>G (p.Phe522Leu)
c.1599T>G (p.Phe533Leu)
c.1593T>G (p.Phe531Leu)
c.498T>G (p.Phe166Leu)
1g.9264059T=CA1152693598H6PDc.1566T= (p.Phe522=)
c.1599T= (p.Phe533=)
c.1593T= (p.Phe531=)
c.498T= (p.Phe166=)

Number of alleles fetched