Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.9263966G>A | CA416031564 | H6PD | c.1473G>A (p.Glu491=) c.1506G>A (p.Glu502=) c.1500G>A (p.Glu500=) c.405G>A (p.Glu135=) | gnomAD v4 |
1 | g.9263966G>C | CA338193120 | H6PD | c.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 |
1 | g.9263966G= | CA1152693166 | H6PD | c.1473G= (p.Glu491=) c.1506G= (p.Glu502=) c.1500G= (p.Glu500=) c.405G= (p.Glu135=) | |
1 | g.9263966G>T | CA338193121 | H6PD | c.1473G>T (p.Glu491Asp) c.1506G>T (p.Glu502Asp) c.1500G>T (p.Glu500Asp) c.405G>T (p.Glu135Asp) | |
1 | g.9263967A>C | CA338193122 | H6PD | c.1474A>C (p.Ser492Arg) c.1507A>C (p.Ser503Arg) c.1501A>C (p.Ser501Arg) c.406A>C (p.Ser136Arg) | |
1 | g.9263967A>G | CA338193123 | H6PD | c.1474A>G (p.Ser492Gly) c.1507A>G (p.Ser503Gly) c.1501A>G (p.Ser501Gly) c.406A>G (p.Ser136Gly) | |
1 | g.9263967A>T | CA338193124 | H6PD | c.1474A>T (p.Ser492Cys) c.1507A>T (p.Ser503Cys) c.1501A>T (p.Ser501Cys) c.406A>T (p.Ser136Cys) | gnomAD v4 |
1 | g.9263968G>A | CA338193125 | H6PD | c.1475G>A (p.Ser492Asn) c.1508G>A (p.Ser503Asn) c.1502G>A (p.Ser501Asn) c.407G>A (p.Ser136Asn) | |
1 | g.9263968G>C | CA338193126 | H6PD | c.1475G>C (p.Ser492Thr) c.1508G>C (p.Ser503Thr) c.1502G>C (p.Ser501Thr) c.407G>C (p.Ser136Thr) | gnomAD v4 |
1 | g.9263968G>T | CA338193127 | H6PD | c.1475G>T (p.Ser492Ile) c.1508G>T (p.Ser503Ile) c.1502G>T (p.Ser501Ile) c.407G>T (p.Ser136Ile) | |
1 | g.9263969C>A | CA338193128 | H6PD | c.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 |
1 | g.9263969C= | CA1152693168 | H6PD | c.1476C= (p.Ser492=) c.1509C= (p.Ser503=) c.1503C= (p.Ser501=) c.408C= (p.Ser136=) | |
1 | g.9263969C>G | CA338193129 | H6PD | c.1476C>G (p.Ser492Arg) c.1509C>G (p.Ser503Arg) c.1503C>G (p.Ser501Arg) c.408C>G (p.Ser136Arg) | gnomAD v4 |
1 | g.9263969C>T | CA575312 | H6PD | c.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 |
1 | g.9263969_9263970del | CA2643115493 | H6PD | c.1476_1477del (p.Leu493GlyfsTer3) c.1509_1510del (p.Leu504GlyfsTer3) c.1503_1504del (p.Leu502GlyfsTer3) c.408_409del (p.Leu137GlyfsTer3) | gnomAD v4 |
1 | g.9263970C>A | CA338193130 | H6PD | c.1477C>A (p.Leu493Met) c.1510C>A (p.Leu504Met) c.1504C>A (p.Leu502Met) c.409C>A (p.Leu137Met) | |
1 | g.9263970C= | CA1152693172 | H6PD | c.1477C= (p.Leu493=) c.1510C= (p.Leu504=) c.1504C= (p.Leu502=) c.409C= (p.Leu137=) | |
1 | g.9263970C>G | CA338193131 | H6PD | c.1477C>G (p.Leu493Val) c.1510C>G (p.Leu504Val) c.1504C>G (p.Leu502Val) c.409C>G (p.Leu137Val) | |
1 | g.9263970C>T | CA416031582 | H6PD | c.1477C>T (p.Leu493=) c.1510C>T (p.Leu504=) c.1504C>T (p.Leu502=) c.409C>T (p.Leu137=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9263971T>A | CA338193134 | H6PD | c.1478T>A (p.Leu493Gln) c.1511T>A (p.Leu504Gln) c.1505T>A (p.Leu502Gln) c.410T>A (p.Leu137Gln) | |
1 | g.9263971T>C | CA338193133 | H6PD | c.1478T>C (p.Leu493Pro) c.1511T>C (p.Leu504Pro) c.1505T>C (p.Leu502Pro) c.410T>C (p.Leu137Pro) | gnomAD v4 |
1 | g.9263971T>G | CA338193132 | H6PD | c.1478T>G (p.Leu493Arg) c.1511T>G (p.Leu504Arg) c.1505T>G (p.Leu502Arg) c.410T>G (p.Leu137Arg) | |
1 | g.9263972G>A | CA17750905 | H6PD | c.1479G>A (p.Leu493=) c.1512G>A (p.Leu504=) c.1506G>A (p.Leu502=) c.411G>A (p.Leu137=) | dbSNP gnomAD v4 |
1 | g.9263972G>C | CA416031592 | H6PD | c.1479G>C (p.Leu493=) c.1512G>C (p.Leu504=) c.1506G>C (p.Leu502=) c.411G>C (p.Leu137=) | |
1 | g.9263972G= | CA1152693176 | H6PD | c.1479G= (p.Leu493=) c.1512G= (p.Leu504=) c.1506G= (p.Leu502=) c.411G= (p.Leu137=) | |
1 | g.9263972G>T | CA416031591 | H6PD | c.1479G>T (p.Leu493=) c.1512G>T (p.Leu504=) c.1506G>T (p.Leu502=) c.411G>T (p.Leu137=) | |
1 | g.9263973G>A | CA338193135 | H6PD | c.1480G>A (p.Ala494Thr) c.1513G>A (p.Ala505Thr) c.1507G>A (p.Ala503Thr) c.412G>A (p.Ala138Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9263973G>C | CA338193136 | H6PD | c.1480G>C (p.Ala494Pro) c.1513G>C (p.Ala505Pro) c.1507G>C (p.Ala503Pro) c.412G>C (p.Ala138Pro) | |
1 | g.9263973G= | CA1152693185 | H6PD | c.1480G= (p.Ala494=) c.1513G= (p.Ala505=) c.1507G= (p.Ala503=) c.412G= (p.Ala138=) | |
1 | g.9263973G>T | CA338193137 | H6PD | c.1480G>T (p.Ala494Ser) c.1513G>T (p.Ala505Ser) c.1507G>T (p.Ala503Ser) c.412G>T (p.Ala138Ser) | |
1 | g.9263973_9263996del | CA2643115494 | H6PD | c.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 |
1 | g.9263974C>A | CA338193138 | H6PD | c.1481C>A (p.Ala494Asp) c.1514C>A (p.Ala505Asp) c.1508C>A (p.Ala503Asp) c.413C>A (p.Ala138Asp) | |
1 | g.9263974C= | CA1152693188 | H6PD | c.1481C= (p.Ala494=) c.1514C= (p.Ala505=) c.1508C= (p.Ala503=) c.413C= (p.Ala138=) | |
1 | g.9263974C>G | CA338193139 | H6PD | c.1481C>G (p.Ala494Gly) c.1514C>G (p.Ala505Gly) c.1508C>G (p.Ala503Gly) c.413C>G (p.Ala138Gly) | |
1 | g.9263974C>T | CA338193140 | H6PD | c.1481C>T (p.Ala494Val) c.1514C>T (p.Ala505Val) c.1508C>T (p.Ala503Val) c.413C>T (p.Ala138Val) | dbSNP gnomAD v4 |
1 | g.9263975C>A | CA416031599 | H6PD | c.1482C>A (p.Ala494=) c.1515C>A (p.Ala505=) c.1509C>A (p.Ala503=) c.414C>A (p.Ala138=) | |
1 | g.9263975C>G | CA416031600 | H6PD | c.1482C>G (p.Ala494=) c.1515C>G (p.Ala505=) c.1509C>G (p.Ala503=) c.414C>G (p.Ala138=) | |
1 | g.9263975C>T | CA416031601 | H6PD | c.1482C>T (p.Ala494=) c.1515C>T (p.Ala505=) c.1509C>T (p.Ala503=) c.414C>T (p.Ala138=) | |
1 | g.9263976C>A | CA338193141 | H6PD | c.1483C>A (p.His495Asn) c.1516C>A (p.His506Asn) c.1510C>A (p.His504Asn) c.415C>A (p.His139Asn) | gnomAD v4 |
1 | g.9263976C>G | CA338193142 | H6PD | c.1483C>G (p.His495Asp) c.1516C>G (p.His506Asp) c.1510C>G (p.His504Asp) c.415C>G (p.His139Asp) | |
1 | g.9263976C>T | CA338193143 | H6PD | c.1483C>T (p.His495Tyr) c.1516C>T (p.His506Tyr) c.1510C>T (p.His504Tyr) c.415C>T (p.His139Tyr) | |
1 | g.9263977A>C | CA338193144 | H6PD | c.1484A>C (p.His495Pro) c.1517A>C (p.His506Pro) c.1511A>C (p.His504Pro) c.416A>C (p.His139Pro) | |
1 | g.9263977A>G | CA338193145 | H6PD | c.1484A>G (p.His495Arg) c.1517A>G (p.His506Arg) c.1511A>G (p.His504Arg) c.416A>G (p.His139Arg) | |
1 | g.9263977A>T | CA338193146 | H6PD | c.1484A>T (p.His495Leu) c.1517A>T (p.His506Leu) c.1511A>T (p.His504Leu) c.416A>T (p.His139Leu) | |
1 | g.9263978T>A | CA338193147 | H6PD | c.1485T>A (p.His495Gln) c.1518T>A (p.His506Gln) c.1512T>A (p.His504Gln) c.417T>A (p.His139Gln) | |
1 | g.9263978T>C | CA416031607 | H6PD | c.1485T>C (p.His495=) c.1518T>C (p.His506=) c.1512T>C (p.His504=) c.417T>C (p.His139=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9263978T>G | CA338193148 | H6PD | c.1485T>G (p.His495Gln) c.1518T>G (p.His506Gln) c.1512T>G (p.His504Gln) c.417T>G (p.His139Gln) | |
1 | g.9263978T= | CA1152693197 | H6PD | c.1485T= (p.His495=) c.1518T= (p.His506=) c.1512T= (p.His504=) c.417T= (p.His139=) | |
1 | g.9263978_9263979delinsTA | CA1152693199 | H6PD | c.1485_1486delinsTA (p.His495=) c.1518_1519delinsTA (p.His506=) c.1512_1513delinsTA (p.His504=) c.417_418delinsTA (p.His139=) | |
1 | g.9263979A= | CA1152693212 | H6PD | c.1486A= (p.Lys496=) c.1519A= (p.Lys507=) c.1513A= (p.Lys505=) c.418A= (p.Lys140=) | |
1 | g.9263979A>C | CA575313 | H6PD | c.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 |
1 | g.9263979A>G | CA338193150 | H6PD | c.1486A>G (p.Lys496Glu) c.1519A>G (p.Lys507Glu) c.1513A>G (p.Lys505Glu) c.418A>G (p.Lys140Glu) | gnomAD v4 |
1 | g.9263979A>T | CA338193149 | H6PD | c.1486A>T (p.Lys496Ter) c.1519A>T (p.Lys507Ter) c.1513A>T (p.Lys505Ter) c.418A>T (p.Lys140Ter) | |
1 | g.9263980del | CA1152693207 | H6PD | c.1487del (p.Lys496ArgfsTer?) c.1520del (p.Lys507ArgfsTer?) c.1514del (p.Lys505ArgfsTer?) c.419del (p.Lys140ArgfsTer?) | dbSNP |
1 | g.9263980A= | CA1152693215 | H6PD | c.1487A= (p.Lys496=) c.1520A= (p.Lys507=) c.1514A= (p.Lys505=) c.419A= (p.Lys140=) | |
1 | g.9263980A>C | CA338193151 | H6PD | c.1487A>C (p.Lys496Thr) c.1520A>C (p.Lys507Thr) c.1514A>C (p.Lys505Thr) c.419A>C (p.Lys140Thr) | |
1 | g.9263980A>G | CA338193152 | H6PD | c.1487A>G (p.Lys496Arg) c.1520A>G (p.Lys507Arg) c.1514A>G (p.Lys505Arg) c.419A>G (p.Lys140Arg) | |
1 | g.9263980A>T | CA338193153 | H6PD | c.1487A>T (p.Lys496Met) c.1520A>T (p.Lys507Met) c.1514A>T (p.Lys505Met) c.419A>T (p.Lys140Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9263980_9263981insAACACCCAAACACACCCAACACA | CA2742402683 | H6PD | c.1487_1488insAACACCCAAACACACCCAACACA (p.Ala497ThrfsTer?) c.1520_1521insAACACCCAAACACACCCAACACA (p.Ala508ThrfsTer?) c.1514_1515insAACACCCAAACACACCCAACACA (p.Ala506ThrfsTer?) c.419_420insAACACCCAAACACACCCAACACA (p.Ala141ThrfsTer?) | |
1 | g.9263981G>A | CA17750914 | H6PD | c.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 |
1 | g.9263981G>C | CA338193154 | H6PD | c.1488G>C (p.Lys496Asn) c.1521G>C (p.Lys507Asn) c.1515G>C (p.Lys505Asn) c.420G>C (p.Lys140Asn) | |
1 | g.9263981G= | CA1152693221 | H6PD | c.1488G= (p.Lys496=) c.1521G= (p.Lys507=) c.1515G= (p.Lys505=) c.420G= (p.Lys140=) | |
1 | g.9263981G>T | CA338193155 | H6PD | c.1488G>T (p.Lys496Asn) c.1521G>T (p.Lys507Asn) c.1515G>T (p.Lys505Asn) c.420G>T (p.Lys140Asn) | |
1 | g.9263982G>A | CA338193156 | H6PD | c.1489G>A (p.Ala497Thr) c.1522G>A (p.Ala508Thr) c.1516G>A (p.Ala506Thr) c.421G>A (p.Ala141Thr) | dbSNP |
1 | g.9263982G>C | CA17750916 | H6PD | c.1489G>C (p.Ala497Pro) c.1522G>C (p.Ala508Pro) c.1516G>C (p.Ala506Pro) c.421G>C (p.Ala141Pro) | dbSNP |
1 | g.9263982G= | CA1152693224 | H6PD | c.1489G= (p.Ala497=) c.1522G= (p.Ala508=) c.1516G= (p.Ala506=) c.421G= (p.Ala141=) | |
1 | g.9263982G>T | CA338193157 | H6PD | c.1489G>T (p.Ala497Ser) c.1522G>T (p.Ala508Ser) c.1516G>T (p.Ala506Ser) c.421G>T (p.Ala141Ser) | |
1 | g.9263983C>A | CA338193158 | H6PD | c.1490C>A (p.Ala497Asp) c.1523C>A (p.Ala508Asp) c.1517C>A (p.Ala506Asp) c.422C>A (p.Ala141Asp) | |
1 | g.9263983C= | CA1152693230 | H6PD | c.1490C= (p.Ala497=) c.1523C= (p.Ala508=) c.1517C= (p.Ala506=) c.422C= (p.Ala141=) | |
1 | g.9263983C>G | CA338193159 | H6PD | c.1490C>G (p.Ala497Gly) c.1523C>G (p.Ala508Gly) c.1517C>G (p.Ala506Gly) c.422C>G (p.Ala141Gly) | dbSNP |
1 | g.9263983C>T | CA338193160 | H6PD | c.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 |
1 | g.9263984C>A | CA416031631 | H6PD | c.1491C>A (p.Ala497=) c.1524C>A (p.Ala508=) c.1518C>A (p.Ala506=) c.423C>A (p.Ala141=) | |
1 | g.9263984C>G | CA416031632 | H6PD | c.1491C>G (p.Ala497=) c.1524C>G (p.Ala508=) c.1518C>G (p.Ala506=) c.423C>G (p.Ala141=) | |
1 | g.9263984C>T | CA416031633 | H6PD | c.1491C>T (p.Ala497=) c.1524C>T (p.Ala508=) c.1518C>T (p.Ala506=) c.423C>T (p.Ala141=) | |
1 | g.9263985C>A | CA338193161 | H6PD | c.1492C>A (p.Pro498Thr) c.1525C>A (p.Pro509Thr) c.1519C>A (p.Pro507Thr) c.424C>A (p.Pro142Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9263985C= | CA1152693236 | H6PD | c.1492C= (p.Pro498=) c.1525C= (p.Pro509=) c.1519C= (p.Pro507=) c.424C= (p.Pro142=) | |
1 | g.9263985C>G | CA338193162 | H6PD | c.1492C>G (p.Pro498Ala) c.1525C>G (p.Pro509Ala) c.1519C>G (p.Pro507Ala) c.424C>G (p.Pro142Ala) | |
1 | g.9263985C>T | CA338193163 | H6PD | c.1492C>T (p.Pro498Ser) c.1525C>T (p.Pro509Ser) c.1519C>T (p.Pro507Ser) c.424C>T (p.Pro142Ser) | |
1 | g.9263986C>A | CA338193166 | H6PD | c.1493C>A (p.Pro498Gln) c.1526C>A (p.Pro509Gln) c.1520C>A (p.Pro507Gln) c.425C>A (p.Pro142Gln) | |
1 | g.9263986C>G | CA338193165 | H6PD | c.1493C>G (p.Pro498Arg) c.1526C>G (p.Pro509Arg) c.1520C>G (p.Pro507Arg) c.425C>G (p.Pro142Arg) | |
1 | g.9263986C>T | CA338193164 | H6PD | c.1493C>T (p.Pro498Leu) c.1526C>T (p.Pro509Leu) c.1520C>T (p.Pro507Leu) c.425C>T (p.Pro142Leu) | |
1 | g.9263987A>C | CA416031639 | H6PD | c.1494A>C (p.Pro498=) c.1527A>C (p.Pro509=) c.1521A>C (p.Pro507=) c.426A>C (p.Pro142=) | |
1 | g.9263987A>G | CA416031644 | H6PD | c.1494A>G (p.Pro498=) c.1527A>G (p.Pro509=) c.1521A>G (p.Pro507=) c.426A>G (p.Pro142=) | |
1 | g.9263987A>T | CA416031641 | H6PD | c.1494A>T (p.Pro498=) c.1527A>T (p.Pro509=) c.1521A>T (p.Pro507=) c.426A>T (p.Pro142=) | |
1 | g.9263988C>A | CA338193167 | H6PD | c.1495C>A (p.Arg499Ser) c.1528C>A (p.Arg510Ser) c.1522C>A (p.Arg508Ser) c.427C>A (p.Arg143Ser) | gnomAD v4 |
1 | g.9263988C= | CA1148561486 | H6PD | c.1495C= (p.Arg499=) c.1528C= (p.Arg510=) c.1522C= (p.Arg508=) c.427C= (p.Arg143=) | |
1 | g.9263988C>G | CA17750922 | H6PD | c.1495C>G (p.Arg499Gly) c.1528C>G (p.Arg510Gly) c.1522C>G (p.Arg508Gly) c.427C>G (p.Arg143Gly) | dbSNP |
1 | g.9263988C>T | CA575314 | H6PD | c.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 |
1 | g.9263989G>A | CA575315 | H6PD | c.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 |
1 | g.9263989G>C | CA338193168 | H6PD | c.1496G>C (p.Arg499Pro) c.1529G>C (p.Arg510Pro) c.1523G>C (p.Arg508Pro) c.428G>C (p.Arg143Pro) | |
1 | g.9263989G= | CA1141779051 | H6PD | c.1496G= (p.Arg499=) c.1529G= (p.Arg510=) c.1523G= (p.Arg508=) c.428G= (p.Arg143=) | |
1 | g.9263989G>T | CA338193169 | H6PD | c.1496G>T (p.Arg499Leu) c.1529G>T (p.Arg510Leu) c.1523G>T (p.Arg508Leu) c.428G>T (p.Arg143Leu) | COSMIC |
1 | g.9263990C>A | CA575316 | H6PD | c.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 |
1 | g.9263990C= | CA1152693256 | H6PD | c.1497C= (p.Arg499=) c.1530C= (p.Arg510=) c.1524C= (p.Arg508=) c.429C= (p.Arg143=) | |
1 | g.9263990C>G | CA416031648 | H6PD | c.1497C>G (p.Arg499=) c.1530C>G (p.Arg510=) c.1524C>G (p.Arg508=) c.429C>G (p.Arg143=) | |
1 | g.9263990C>T | CA416031652 | H6PD | c.1497C>T (p.Arg499=) c.1530C>T (p.Arg510=) c.1524C>T (p.Arg508=) c.429C>T (p.Arg143=) | |
1 | g.9263991C>A | CA338193170 | H6PD | c.1498C>A (p.Leu500Ile) c.1531C>A (p.Leu511Ile) c.1525C>A (p.Leu509Ile) c.430C>A (p.Leu144Ile) | |
1 | g.9263991C>G | CA338193171 | H6PD | c.1498C>G (p.Leu500Val) c.1531C>G (p.Leu511Val) c.1525C>G (p.Leu509Val) c.430C>G (p.Leu144Val) | |
1 | g.9263991C>T | CA338193172 | H6PD | c.1498C>T (p.Leu500Phe) c.1531C>T (p.Leu511Phe) c.1525C>T (p.Leu509Phe) c.430C>T (p.Leu144Phe) | |
1 | g.9263993_9263994dup | CA2574201608 | H6PD | c.1500_1501dup (p.Tyr501SerfsTer?) c.1533_1534dup (p.Tyr512SerfsTer?) c.1527_1528dup (p.Tyr510SerfsTer?) c.432_433dup (p.Tyr145SerfsTer?) | |
1 | g.9263992T>A | CA338193173 | H6PD | c.1499T>A (p.Leu500His) c.1532T>A (p.Leu511His) c.1526T>A (p.Leu509His) c.431T>A (p.Leu144His) | |
1 | g.9263992T>C | CA338193174 | H6PD | c.1499T>C (p.Leu500Pro) c.1532T>C (p.Leu511Pro) c.1526T>C (p.Leu509Pro) c.431T>C (p.Leu144Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9263992T>G | CA338193175 | H6PD | c.1499T>G (p.Leu500Arg) c.1532T>G (p.Leu511Arg) c.1526T>G (p.Leu509Arg) c.431T>G (p.Leu144Arg) | |
1 | g.9263992T= | CA1152693275 | H6PD | c.1499T= (p.Leu500=) c.1532T= (p.Leu511=) c.1526T= (p.Leu509=) c.431T= (p.Leu144=) | |
1 | g.9263993C>A | CA416031659 | H6PD | c.1500C>A (p.Leu500=) c.1533C>A (p.Leu511=) c.1527C>A (p.Leu509=) c.432C>A (p.Leu144=) | |
1 | g.9263993C= | CA1152693280 | H6PD | c.1500C= (p.Leu500=) c.1533C= (p.Leu511=) c.1527C= (p.Leu509=) c.432C= (p.Leu144=) | |
1 | g.9263993C>G | CA416031663 | H6PD | c.1500C>G (p.Leu500=) c.1533C>G (p.Leu511=) c.1527C>G (p.Leu509=) c.432C>G (p.Leu144=) | |
1 | g.9263993C>T | CA416031661 | H6PD | c.1500C>T (p.Leu500=) c.1533C>T (p.Leu511=) c.1527C>T (p.Leu509=) c.432C>T (p.Leu144=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9263995_9263999del | CA2643115495 | H6PD | c.1502_1506del (p.Tyr501TrpfsTer4) c.1535_1539del (p.Tyr512TrpfsTer4) c.1529_1533del (p.Tyr510TrpfsTer4) c.434_438del (p.Tyr145TrpfsTer4) | gnomAD v4 |
1 | g.9263994T>A | CA338193178 | H6PD | c.1501T>A (p.Tyr501Asn) c.1534T>A (p.Tyr512Asn) c.1528T>A (p.Tyr510Asn) c.433T>A (p.Tyr145Asn) | |
1 | g.9263994T>C | CA338193177 | H6PD | c.1501T>C (p.Tyr501His) c.1534T>C (p.Tyr512His) c.1528T>C (p.Tyr510His) c.433T>C (p.Tyr145His) | dbSNP |
1 | g.9263994T>G | CA338193176 | H6PD | c.1501T>G (p.Tyr501Asp) c.1534T>G (p.Tyr512Asp) c.1528T>G (p.Tyr510Asp) c.433T>G (p.Tyr145Asp) | |
1 | g.9263994T= | CA1152693287 | H6PD | c.1501T= (p.Tyr501=) c.1534T= (p.Tyr512=) c.1528T= (p.Tyr510=) c.433T= (p.Tyr145=) | |
1 | g.9263995A>C | CA338193179 | H6PD | c.1502A>C (p.Tyr501Ser) c.1535A>C (p.Tyr512Ser) c.1529A>C (p.Tyr510Ser) c.434A>C (p.Tyr145Ser) | |
1 | g.9263995A>G | CA338193180 | H6PD | c.1502A>G (p.Tyr501Cys) c.1535A>G (p.Tyr512Cys) c.1529A>G (p.Tyr510Cys) c.434A>G (p.Tyr145Cys) | |
1 | g.9263995A>T | CA338193181 | H6PD | c.1502A>T (p.Tyr501Phe) c.1535A>T (p.Tyr512Phe) c.1529A>T (p.Tyr510Phe) c.434A>T (p.Tyr145Phe) | |
1 | g.9263996C>A | CA338193182 | H6PD | c.1503C>A (p.Tyr501Ter) c.1536C>A (p.Tyr512Ter) c.1530C>A (p.Tyr510Ter) c.435C>A (p.Tyr145Ter) | |
1 | g.9263996C= | CA1148422803 | H6PD | c.1503C= (p.Tyr501=) c.1536C= (p.Tyr512=) c.1530C= (p.Tyr510=) c.435C= (p.Tyr145=) | |
1 | g.9263996C>G | CA338193183 | H6PD | c.1503C>G (p.Tyr501Ter) c.1536C>G (p.Tyr512Ter) c.1530C>G (p.Tyr510Ter) c.435C>G (p.Tyr145Ter) | |
1 | g.9263996C>T | CA575317 | H6PD | c.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 |
1 | g.9263997C>A | CA338193184 | H6PD | c.1504C>A (p.Pro502Thr) c.1537C>A (p.Pro513Thr) c.1531C>A (p.Pro511Thr) c.436C>A (p.Pro146Thr) | |
1 | g.9263997C>G | CA338193185 | H6PD | c.1504C>G (p.Pro502Ala) c.1537C>G (p.Pro513Ala) c.1531C>G (p.Pro511Ala) c.436C>G (p.Pro146Ala) | |
1 | g.9263997C>T | CA338193186 | H6PD | c.1504C>T (p.Pro502Ser) c.1537C>T (p.Pro513Ser) c.1531C>T (p.Pro511Ser) c.436C>T (p.Pro146Ser) | |
1 | g.9263998C>A | CA338193187 | H6PD | c.1505C>A (p.Pro502His) c.1538C>A (p.Pro513His) c.1532C>A (p.Pro511His) c.437C>A (p.Pro146His) | |
1 | g.9263998C= | CA1152693295 | H6PD | c.1505C= (p.Pro502=) c.1538C= (p.Pro513=) c.1532C= (p.Pro511=) c.437C= (p.Pro146=) | |
1 | g.9263998C>G | CA338193188 | H6PD | c.1505C>G (p.Pro502Arg) c.1538C>G (p.Pro513Arg) c.1532C>G (p.Pro511Arg) c.437C>G (p.Pro146Arg) | |
1 | g.9263998C>T | CA575318 | H6PD | c.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 |
1 | g.9263999T>A | CA416031676 | H6PD | c.1506T>A (p.Pro502=) c.1539T>A (p.Pro513=) c.1533T>A (p.Pro511=) c.438T>A (p.Pro146=) | |
1 | g.9263999T>C | CA575319 | H6PD | c.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 |
1 | g.9263999T>G | CA416031679 | H6PD | c.1506T>G (p.Pro502=) c.1539T>G (p.Pro513=) c.1533T>G (p.Pro511=) c.438T>G (p.Pro146=) | |
1 | g.9263999T= | CA1144062383 | H6PD | c.1506T= (p.Pro502=) c.1539T= (p.Pro513=) c.1533T= (p.Pro511=) c.438T= (p.Pro146=) | |
1 | g.9264000G>A | CA338193190 | H6PD | c.1507G>A (p.Gly503Arg) c.1540G>A (p.Gly514Arg) c.1534G>A (p.Gly512Arg) c.439G>A (p.Gly147Arg) | |
1 | g.9264000G>C | CA338193191 | H6PD | c.1507G>C (p.Gly503Arg) c.1540G>C (p.Gly514Arg) c.1534G>C (p.Gly512Arg) c.439G>C (p.Gly147Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264000G= | CA1152693303 | H6PD | c.1507G= (p.Gly503=) c.1540G= (p.Gly514=) c.1534G= (p.Gly512=) c.439G= (p.Gly147=) | |
1 | g.9264000G>T | CA338193189 | H6PD | c.1507G>T (p.Gly503Ter) c.1540G>T (p.Gly514Ter) c.1534G>T (p.Gly512Ter) c.439G>T (p.Gly147Ter) | |
1 | g.9264001G>A | CA575320 | H6PD | c.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 |
1 | g.9264001G>C | CA338193193 | H6PD | c.1508G>C (p.Gly503Ala) c.1541G>C (p.Gly514Ala) c.1535G>C (p.Gly512Ala) c.440G>C (p.Gly147Ala) | |
1 | g.9264001G= | CA1148256939 | H6PD | c.1508G= (p.Gly503=) c.1541G= (p.Gly514=) c.1535G= (p.Gly512=) c.440G= (p.Gly147=) | |
1 | g.9264001G>T | CA338193192 | H6PD | c.1508G>T (p.Gly503Val) c.1541G>T (p.Gly514Val) c.1535G>T (p.Gly512Val) c.440G>T (p.Gly147Val) | gnomAD v4 |
1 | g.9264002A= | CA1152693314 | H6PD | c.1509A= (p.Gly503=) c.1542A= (p.Gly514=) c.1536A= (p.Gly512=) c.441A= (p.Gly147=) | |
1 | g.9264002A>C | CA416031823 | H6PD | c.1509A>C (p.Gly503=) c.1542A>C (p.Gly514=) c.1536A>C (p.Gly512=) c.441A>C (p.Gly147=) | |
1 | g.9264002A>G | CA575321 | H6PD | c.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 |
1 | g.9264002A>T | CA416031821 | H6PD | c.1509A>T (p.Gly503=) c.1542A>T (p.Gly514=) c.1536A>T (p.Gly512=) c.441A>T (p.Gly147=) | |
1 | g.9264003G>A | CA338193194 | H6PD | c.1510G>A (p.Gly504Arg) c.1543G>A (p.Gly515Arg) c.1537G>A (p.Gly513Arg) c.442G>A (p.Gly148Arg) | |
1 | g.9264003G>C | CA338193195 | H6PD | c.1510G>C (p.Gly504Arg) c.1543G>C (p.Gly515Arg) c.1537G>C (p.Gly513Arg) c.442G>C (p.Gly148Arg) | |
1 | g.9264003G>T | CA338193196 | H6PD | c.1510G>T (p.Gly504Ter) c.1543G>T (p.Gly515Ter) c.1537G>T (p.Gly513Ter) c.442G>T (p.Gly148Ter) | |
1 | g.9264004G>A | CA575323 | H6PD | c.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 |
1 | g.9264004G>C | CA338193197 | H6PD | c.1511G>C (p.Gly504Ala) c.1544G>C (p.Gly515Ala) c.1538G>C (p.Gly513Ala) c.443G>C (p.Gly148Ala) | |
1 | g.9264004G= | CA1152693328 | H6PD | c.1511G= (p.Gly504=) c.1544G= (p.Gly515=) c.1538G= (p.Gly513=) c.443G= (p.Gly148=) | |
1 | g.9264004G>T | CA575322 | H6PD | c.1511G>T (p.Gly504Val) c.1544G>T (p.Gly515Val) c.1538G>T (p.Gly513Val) c.443G>T (p.Gly148Val) | dbSNP ExAC gnomAD v2 |
1 | g.9264005A= | CA1152693337 | H6PD | c.1512A= (p.Gly504=) c.1545A= (p.Gly515=) c.1539A= (p.Gly513=) c.444A= (p.Gly148=) | |
1 | g.9264005A>C | CA416031828 | H6PD | c.1512A>C (p.Gly504=) c.1545A>C (p.Gly515=) c.1539A>C (p.Gly513=) c.444A>C (p.Gly148=) | |
1 | g.9264005A>G | CA416031830 | H6PD | c.1512A>G (p.Gly504=) c.1545A>G (p.Gly515=) c.1539A>G (p.Gly513=) c.444A>G (p.Gly148=) | |
1 | g.9264005A>T | CA575324 | H6PD | c.1512A>T (p.Gly504=) c.1545A>T (p.Gly515=) c.1539A>T (p.Gly513=) c.444A>T (p.Gly148=) | dbSNP ExAC gnomAD v2 |
1 | g.9264006G>A | CA575325 | H6PD | c.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 |
1 | g.9264006G>C | CA338193198 | H6PD | c.1513G>C (p.Ala505Pro) c.1546G>C (p.Ala516Pro) c.1540G>C (p.Ala514Pro) c.445G>C (p.Ala149Pro) | |
1 | g.9264006G= | CA1152693340 | H6PD | c.1513G= (p.Ala505=) c.1546G= (p.Ala516=) c.1540G= (p.Ala514=) c.445G= (p.Ala149=) | |
1 | g.9264006G>T | CA338193199 | H6PD | c.1513G>T (p.Ala505Ser) c.1546G>T (p.Ala516Ser) c.1540G>T (p.Ala514Ser) c.445G>T (p.Ala149Ser) | |
1 | g.9264007C>A | CA338193201 | H6PD | c.1514C>A (p.Ala505Asp) c.1547C>A (p.Ala516Asp) c.1541C>A (p.Ala514Asp) c.446C>A (p.Ala149Asp) | |
1 | g.9264007C= | CA1141731447 | H6PD | c.1514C= (p.Ala505=) c.1547C= (p.Ala516=) c.1541C= (p.Ala514=) c.446C= (p.Ala149=) | |
1 | g.9264007C>G | CA575326 | H6PD | c.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 |
1 | g.9264007C>T | CA338193200 | H6PD | c.1514C>T (p.Ala505Val) c.1547C>T (p.Ala516Val) c.1541C>T (p.Ala514Val) c.446C>T (p.Ala149Val) | |
1 | g.9264008T>A | CA416031835 | H6PD | c.1515T>A (p.Ala505=) c.1548T>A (p.Ala516=) c.1542T>A (p.Ala514=) c.447T>A (p.Ala149=) | |
1 | g.9264008T>C | CA416031834 | H6PD | c.1515T>C (p.Ala505=) c.1548T>C (p.Ala516=) c.1542T>C (p.Ala514=) c.447T>C (p.Ala149=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264008T>G | CA416031836 | H6PD | c.1515T>G (p.Ala505=) c.1548T>G (p.Ala516=) c.1542T>G (p.Ala514=) c.447T>G (p.Ala149=) | gnomAD v4 |
1 | g.9264008T= | CA1152693351 | H6PD | c.1515T= (p.Ala505=) c.1548T= (p.Ala516=) c.1542T= (p.Ala514=) c.447T= (p.Ala149=) | |
1 | g.9264009G>A | CA338193202 | H6PD | c.1516G>A (p.Glu506Lys) c.1549G>A (p.Glu517Lys) c.1543G>A (p.Glu515Lys) c.448G>A (p.Glu150Lys) | gnomAD v4 |
1 | g.9264009G>C | CA338193203 | H6PD | c.1516G>C (p.Glu506Gln) c.1549G>C (p.Glu517Gln) c.1543G>C (p.Glu515Gln) c.448G>C (p.Glu150Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264009G= | CA1152693354 | H6PD | c.1516G= (p.Glu506=) c.1549G= (p.Glu517=) c.1543G= (p.Glu515=) c.448G= (p.Glu150=) | |
1 | g.9264009G>T | CA338193204 | H6PD | c.1516G>T (p.Glu506Ter) c.1549G>T (p.Glu517Ter) c.1543G>T (p.Glu515Ter) c.448G>T (p.Glu150Ter) | |
1 | g.9264010A>C | CA338193205 | H6PD | c.1517A>C (p.Glu506Ala) c.1550A>C (p.Glu517Ala) c.1544A>C (p.Glu515Ala) c.449A>C (p.Glu150Ala) | gnomAD v4 |
1 | g.9264010A>G | CA338193206 | H6PD | c.1517A>G (p.Glu506Gly) c.1550A>G (p.Glu517Gly) c.1544A>G (p.Glu515Gly) c.449A>G (p.Glu150Gly) | |
1 | g.9264010A>T | CA338193207 | H6PD | c.1517A>T (p.Glu506Val) c.1550A>T (p.Glu517Val) c.1544A>T (p.Glu515Val) c.449A>T (p.Glu150Val) | |
1 | g.9264011G>A | CA416031841 | H6PD | c.1518G>A (p.Glu506=) c.1551G>A (p.Glu517=) c.1545G>A (p.Glu515=) c.450G>A (p.Glu150=) | gnomAD v4 |
1 | g.9264011G>C | CA338193208 | H6PD | c.1518G>C (p.Glu506Asp) c.1551G>C (p.Glu517Asp) c.1545G>C (p.Glu515Asp) c.450G>C (p.Glu150Asp) | gnomAD v4 |
1 | g.9264011G>T | CA338193209 | H6PD | c.1518G>T (p.Glu506Asp) c.1551G>T (p.Glu517Asp) c.1545G>T (p.Glu515Asp) c.450G>T (p.Glu150Asp) | |
1 | g.9264012A>C | CA338193210 | H6PD | c.1519A>C (p.Asn507His) c.1552A>C (p.Asn518His) c.1546A>C (p.Asn516His) c.451A>C (p.Asn151His) | |
1 | g.9264012A>G | CA338193211 | H6PD | c.1519A>G (p.Asn507Asp) c.1552A>G (p.Asn518Asp) c.1546A>G (p.Asn516Asp) c.451A>G (p.Asn151Asp) | |
1 | g.9264012A>T | CA338193212 | H6PD | c.1519A>T (p.Asn507Tyr) c.1552A>T (p.Asn518Tyr) c.1546A>T (p.Asn516Tyr) c.451A>T (p.Asn151Tyr) | |
1 | g.9264013A>C | CA338193214 | H6PD | c.1520A>C (p.Asn507Thr) c.1553A>C (p.Asn518Thr) c.1547A>C (p.Asn516Thr) c.452A>C (p.Asn151Thr) | |
1 | g.9264013A>G | CA338193215 | H6PD | c.1520A>G (p.Asn507Ser) c.1553A>G (p.Asn518Ser) c.1547A>G (p.Asn516Ser) c.452A>G (p.Asn151Ser) | |
1 | g.9264013A>T | CA338193213 | H6PD | c.1520A>T (p.Asn507Ile) c.1553A>T (p.Asn518Ile) c.1547A>T (p.Asn516Ile) c.452A>T (p.Asn151Ile) | |
1 | g.9264014T>A | CA338193216 | H6PD | c.1521T>A (p.Asn507Lys) c.1554T>A (p.Asn518Lys) c.1548T>A (p.Asn516Lys) c.453T>A (p.Asn151Lys) | |
1 | g.9264014T>C | CA575327 | H6PD | c.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 |
1 | g.9264014T>G | CA338193217 | H6PD | c.1521T>G (p.Asn507Lys) c.1554T>G (p.Asn518Lys) c.1548T>G (p.Asn516Lys) c.453T>G (p.Asn151Lys) | |
1 | g.9264014T= | CA1152693361 | H6PD | c.1521T= (p.Asn507=) c.1554T= (p.Asn518=) c.1548T= (p.Asn516=) c.453T= (p.Asn151=) | |
1 | g.9264015G>A | CA575328 | H6PD | c.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 |
1 | g.9264015G>C | CA338193218 | H6PD | c.1522G>C (p.Gly508Arg) c.1555G>C (p.Gly519Arg) c.1549G>C (p.Gly517Arg) c.454G>C (p.Gly152Arg) | |
1 | g.9264015G= | CA1146422230 | H6PD | c.1522G= (p.Gly508=) c.1555G= (p.Gly519=) c.1549G= (p.Gly517=) c.454G= (p.Gly152=) | |
1 | g.9264015G>T | CA338193219 | H6PD | c.1522G>T (p.Gly508Cys) c.1555G>T (p.Gly519Cys) c.1549G>T (p.Gly517Cys) c.454G>T (p.Gly152Cys) | |
1 | g.9264016G>A | CA575329 | H6PD | c.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 |
1 | g.9264016G>C | CA338193220 | H6PD | c.1523G>C (p.Gly508Ala) c.1556G>C (p.Gly519Ala) c.1550G>C (p.Gly517Ala) c.455G>C (p.Gly152Ala) | |
1 | g.9264016G= | CA1142729313 | H6PD | c.1523G= (p.Gly508=) c.1556G= (p.Gly519=) c.1550G= (p.Gly517=) c.455G= (p.Gly152=) | |
1 | g.9264016G>T | CA338193221 | H6PD | c.1523G>T (p.Gly508Val) c.1556G>T (p.Gly519Val) c.1550G>T (p.Gly517Val) c.455G>T (p.Gly152Val) | |
1 | g.9264017C>A | CA416031849 | H6PD | c.1524C>A (p.Gly508=) c.1557C>A (p.Gly519=) c.1551C>A (p.Gly517=) c.456C>A (p.Gly152=) | |
1 | g.9264017C>G | CA416031850 | H6PD | c.1524C>G (p.Gly508=) c.1557C>G (p.Gly519=) c.1551C>G (p.Gly517=) c.456C>G (p.Gly152=) | |
1 | g.9264017C>T | CA416031851 | H6PD | c.1524C>T (p.Gly508=) c.1557C>T (p.Gly519=) c.1551C>T (p.Gly517=) c.456C>T (p.Gly152=) | |
1 | g.9264018C>A | CA338193222 | H6PD | c.1525C>A (p.Arg509Ser) c.1558C>A (p.Arg520Ser) c.1552C>A (p.Arg518Ser) c.457C>A (p.Arg153Ser) | |
1 | g.9264018C= | CA1145575999 | H6PD | c.1525C= (p.Arg509=) c.1558C= (p.Arg520=) c.1552C= (p.Arg518=) c.457C= (p.Arg153=) | |
1 | g.9264018C>G | CA338193223 | H6PD | c.1525C>G (p.Arg509Gly) c.1558C>G (p.Arg520Gly) c.1552C>G (p.Arg518Gly) c.457C>G (p.Arg153Gly) | |
1 | g.9264018C>T | CA575330 | H6PD | c.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 |
1 | g.9264019G>A | CA575331 | H6PD | c.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 |
1 | g.9264019G>C | CA338193225 | H6PD | c.1526G>C (p.Arg509Pro) c.1559G>C (p.Arg520Pro) c.1553G>C (p.Arg518Pro) c.458G>C (p.Arg153Pro) | |
1 | g.9264019G= | CA1141883271 | H6PD | c.1526G= (p.Arg509=) c.1559G= (p.Arg520=) c.1553G= (p.Arg518=) c.458G= (p.Arg153=) | |
1 | g.9264019G>T | CA338193224 | H6PD | c.1526G>T (p.Arg509Leu) c.1559G>T (p.Arg520Leu) c.1553G>T (p.Arg518Leu) c.458G>T (p.Arg153Leu) | |
1 | g.9264020T>A | CA416031865 | H6PD | c.1527T>A (p.Arg509=) c.1560T>A (p.Arg520=) c.1554T>A (p.Arg518=) c.459T>A (p.Arg153=) | |
1 | g.9264020T>C | CA416031867 | H6PD | c.1527T>C (p.Arg509=) c.1560T>C (p.Arg520=) c.1554T>C (p.Arg518=) c.459T>C (p.Arg153=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264020T>G | CA416031868 | H6PD | c.1527T>G (p.Arg509=) c.1560T>G (p.Arg520=) c.1554T>G (p.Arg518=) c.459T>G (p.Arg153=) | |
1 | g.9264020T= | CA1152693393 | H6PD | c.1527T= (p.Arg509=) c.1560T= (p.Arg520=) c.1554T= (p.Arg518=) c.459T= (p.Arg153=) | |
1 | g.9264021C>A | CA338193226 | H6PD | c.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 |
1 | g.9264021C= | CA1152693399 | H6PD | c.1528C= (p.Leu510=) c.1561C= (p.Leu521=) c.1555C= (p.Leu519=) c.460C= (p.Leu154=) | |
1 | g.9264021C>G | CA575333 | H6PD | c.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 |
1 | g.9264021C>T | CA575332 | H6PD | c.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 |
1 | g.9264022T>A | CA338193227 | H6PD | c.1529T>A (p.Leu510Gln) c.1562T>A (p.Leu521Gln) c.1556T>A (p.Leu519Gln) c.461T>A (p.Leu154Gln) | |
1 | g.9264022T>C | CA338193228 | H6PD | c.1529T>C (p.Leu510Pro) c.1562T>C (p.Leu521Pro) c.1556T>C (p.Leu519Pro) c.461T>C (p.Leu154Pro) | |
1 | g.9264022T>G | CA338193229 | H6PD | c.1529T>G (p.Leu510Arg) c.1562T>G (p.Leu521Arg) c.1556T>G (p.Leu519Arg) c.461T>G (p.Leu154Arg) | |
1 | g.9264023G>A | CA416031878 | H6PD | c.1530G>A (p.Leu510=) c.1563G>A (p.Leu521=) c.1557G>A (p.Leu519=) c.462G>A (p.Leu154=) | gnomAD v4 |
1 | g.9264023G>C | CA416031877 | H6PD | c.1530G>C (p.Leu510=) c.1563G>C (p.Leu521=) c.1557G>C (p.Leu519=) c.462G>C (p.Leu154=) | |
1 | g.9264023G= | CA1152693405 | H6PD | c.1530G= (p.Leu510=) c.1563G= (p.Leu521=) c.1557G= (p.Leu519=) c.462G= (p.Leu154=) | |
1 | g.9264023G>T | CA416031875 | H6PD | c.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 |
1 | g.9264024T>A | CA338193231 | H6PD | c.1531T>A (p.Leu511Met) c.1564T>A (p.Leu522Met) c.1558T>A (p.Leu520Met) c.463T>A (p.Leu155Met) | |
1 | g.9264024T>C | CA575334 | H6PD | c.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 |
1 | g.9264024T>G | CA338193230 | H6PD | c.1531T>G (p.Leu511Val) c.1564T>G (p.Leu522Val) c.1558T>G (p.Leu520Val) c.463T>G (p.Leu155Val) | |
1 | g.9264024T= | CA1142228843 | H6PD | c.1531T= (p.Leu511=) c.1564T= (p.Leu522=) c.1558T= (p.Leu520=) c.463T= (p.Leu155=) | |
1 | g.9264025T>A | CA338193232 | H6PD | c.1532T>A (p.Leu511Ter) c.1565T>A (p.Leu522Ter) c.1559T>A (p.Leu520Ter) c.464T>A (p.Leu155Ter) | |
1 | g.9264025T>C | CA17751007 | H6PD | c.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 |
1 | g.9264025T>G | CA338193233 | H6PD | c.1532T>G (p.Leu511Trp) c.1565T>G (p.Leu522Trp) c.1559T>G (p.Leu520Trp) c.464T>G (p.Leu155Trp) | |
1 | g.9264025T= | CA1152693416 | H6PD | c.1532T= (p.Leu511=) c.1565T= (p.Leu522=) c.1559T= (p.Leu520=) c.464T= (p.Leu155=) | |
1 | g.9264026G>A | CA416031885 | H6PD | c.1533G>A (p.Leu511=) c.1566G>A (p.Leu522=) c.1560G>A (p.Leu520=) c.465G>A (p.Leu155=) | |
1 | g.9264026G>C | CA338193234 | H6PD | c.1533G>C (p.Leu511Phe) c.1566G>C (p.Leu522Phe) c.1560G>C (p.Leu520Phe) c.465G>C (p.Leu155Phe) | |
1 | g.9264026G>T | CA338193235 | H6PD | c.1533G>T (p.Leu511Phe) c.1566G>T (p.Leu522Phe) c.1560G>T (p.Leu520Phe) c.465G>T (p.Leu155Phe) | |
1 | g.9264027G>A | CA338193236 | H6PD | c.1534G>A (p.Asp512Asn) c.1567G>A (p.Asp523Asn) c.1561G>A (p.Asp521Asn) c.466G>A (p.Asp156Asn) | gnomAD v4 |
1 | g.9264027G>C | CA338193238 | H6PD | c.1534G>C (p.Asp512His) c.1567G>C (p.Asp523His) c.1561G>C (p.Asp521His) c.466G>C (p.Asp156His) | |
1 | g.9264027G>T | CA338193237 | H6PD | c.1534G>T (p.Asp512Tyr) c.1567G>T (p.Asp523Tyr) c.1561G>T (p.Asp521Tyr) c.466G>T (p.Asp156Tyr) | |
1 | g.9264028A>C | CA338193239 | H6PD | c.1535A>C (p.Asp512Ala) c.1568A>C (p.Asp523Ala) c.1562A>C (p.Asp521Ala) c.467A>C (p.Asp156Ala) | |
1 | g.9264028A>G | CA338193241 | H6PD | c.1535A>G (p.Asp512Gly) c.1568A>G (p.Asp523Gly) c.1562A>G (p.Asp521Gly) c.467A>G (p.Asp156Gly) | |
1 | g.9264028A>T | CA338193240 | H6PD | c.1535A>T (p.Asp512Val) c.1568A>T (p.Asp523Val) c.1562A>T (p.Asp521Val) c.467A>T (p.Asp156Val) | |
1 | g.9264029C>A | CA338193242 | H6PD | c.1536C>A (p.Asp512Glu) c.1569C>A (p.Asp523Glu) c.1563C>A (p.Asp521Glu) c.468C>A (p.Asp156Glu) | |
1 | g.9264029C= | CA1152693423 | H6PD | c.1536C= (p.Asp512=) c.1569C= (p.Asp523=) c.1563C= (p.Asp521=) c.468C= (p.Asp156=) | |
1 | g.9264029C>G | CA338193243 | H6PD | c.1536C>G (p.Asp512Glu) c.1569C>G (p.Asp523Glu) c.1563C>G (p.Asp521Glu) c.468C>G (p.Asp156Glu) | gnomAD v4 |
1 | g.9264029C>T | CA416031894 | H6PD | c.1536C>T (p.Asp512=) c.1569C>T (p.Asp523=) c.1563C>T (p.Asp521=) c.468C>T (p.Asp156=) | dbSNP |
1 | g.9264029_9264030delinsCT | CA1152693433 | H6PD | c.1536_1537delinsCT (p.Asp512=) c.1569_1570delinsCT (p.Asp523=) c.1563_1564delinsCT (p.Asp521=) c.468_469delinsCT (p.Asp156=) | |
1 | g.9264030T>A | CA338193244 | H6PD | c.1537T>A (p.Phe513Ile) c.1570T>A (p.Phe524Ile) c.1564T>A (p.Phe522Ile) c.469T>A (p.Phe157Ile) | |
1 | g.9264030T>C | CA338193245 | H6PD | c.1537T>C (p.Phe513Leu) c.1570T>C (p.Phe524Leu) c.1564T>C (p.Phe522Leu) c.469T>C (p.Phe157Leu) | dbSNP |
1 | g.9264030T>G | CA338193246 | H6PD | c.1537T>G (p.Phe513Val) c.1570T>G (p.Phe524Val) c.1564T>G (p.Phe522Val) c.469T>G (p.Phe157Val) | |
1 | g.9264030T= | CA1152693438 | H6PD | c.1537T= (p.Phe513=) c.1570T= (p.Phe524=) c.1564T= (p.Phe522=) c.469T= (p.Phe157=) | |
1 | g.9264032del | CA1152693437 | H6PD | c.1539del (p.Phe513LeufsTer?) c.1572del (p.Phe524LeufsTer?) c.1566del (p.Phe522LeufsTer?) c.471del (p.Phe157LeufsTer?) | dbSNP |
1 | g.9264031T>A | CA338193247 | H6PD | c.1538T>A (p.Phe513Tyr) c.1571T>A (p.Phe524Tyr) c.1565T>A (p.Phe522Tyr) c.470T>A (p.Phe157Tyr) | |
1 | g.9264031T>C | CA338193248 | H6PD | c.1538T>C (p.Phe513Ser) c.1571T>C (p.Phe524Ser) c.1565T>C (p.Phe522Ser) c.470T>C (p.Phe157Ser) | gnomAD v4 |
1 | g.9264031T>G | CA338193249 | H6PD | c.1538T>G (p.Phe513Cys) c.1571T>G (p.Phe524Cys) c.1565T>G (p.Phe522Cys) c.470T>G (p.Phe157Cys) | |
1 | g.9264031T= | CA1152693441 | H6PD | c.1538T= (p.Phe513=) c.1571T= (p.Phe524=) c.1565T= (p.Phe522=) c.470T= (p.Phe157=) | |
1 | g.9264032T>A | CA338193250 | H6PD | c.1539T>A (p.Phe513Leu) c.1572T>A (p.Phe524Leu) c.1566T>A (p.Phe522Leu) c.471T>A (p.Phe157Leu) | gnomAD v4 |
1 | g.9264032T>C | CA416031900 | H6PD | c.1539T>C (p.Phe513=) c.1572T>C (p.Phe524=) c.1566T>C (p.Phe522=) c.471T>C (p.Phe157=) | dbSNP gnomAD v4 |
1 | g.9264032T>G | CA338193251 | H6PD | c.1539T>G (p.Phe513Leu) c.1572T>G (p.Phe524Leu) c.1566T>G (p.Phe522Leu) c.471T>G (p.Phe157Leu) | dbSNP gnomAD v4 |
1 | g.9264032T= | CA1152693483 | H6PD | c.1539T= (p.Phe513=) c.1572T= (p.Phe524=) c.1566T= (p.Phe522=) c.471T= (p.Phe157=) | |
1 | g.9264032_9264033insAT | CA1152693443 | H6PD | c.1539_1540insAT (p.Glu514MetfsTer?) c.1572_1573insAT (p.Glu525MetfsTer?) c.1566_1567insAT (p.Glu523MetfsTer?) c.471_472insAT (p.Glu158MetfsTer?) | dbSNP |
1 | g.9264033G>A | CA575335 | H6PD | c.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 |
1 | g.9264033G>C | CA17751014 | H6PD | c.1540G>C (p.Glu514Gln) c.1573G>C (p.Glu525Gln) c.1567G>C (p.Glu523Gln) c.472G>C (p.Glu158Gln) | dbSNP |
1 | g.9264033G= | CA1141766166 | H6PD | c.1540G= (p.Glu514=) c.1573G= (p.Glu525=) c.1567G= (p.Glu523=) c.472G= (p.Glu158=) | |
1 | g.9264033G>T | CA338193252 | H6PD | c.1540G>T (p.Glu514Ter) c.1573G>T (p.Glu525Ter) c.1567G>T (p.Glu523Ter) c.472G>T (p.Glu158Ter) | |
1 | g.9264034A>C | CA338193255 | H6PD | c.1541A>C (p.Glu514Ala) c.1574A>C (p.Glu525Ala) c.1568A>C (p.Glu523Ala) c.473A>C (p.Glu158Ala) | |
1 | g.9264034A>G | CA338193253 | H6PD | c.1541A>G (p.Glu514Gly) c.1574A>G (p.Glu525Gly) c.1568A>G (p.Glu523Gly) c.473A>G (p.Glu158Gly) | |
1 | g.9264034A>T | CA338193254 | H6PD | c.1541A>T (p.Glu514Val) c.1574A>T (p.Glu525Val) c.1568A>T (p.Glu523Val) c.473A>T (p.Glu158Val) | |
1 | g.9264035G>A | CA416031903 | H6PD | c.1542G>A (p.Glu514=) c.1575G>A (p.Glu525=) c.1569G>A (p.Glu523=) c.474G>A (p.Glu158=) | |
1 | g.9264035G>C | CA338193256 | H6PD | c.1542G>C (p.Glu514Asp) c.1575G>C (p.Glu525Asp) c.1569G>C (p.Glu523Asp) c.474G>C (p.Glu158Asp) | gnomAD v4 |
1 | g.9264035G>T | CA338193257 | H6PD | c.1542G>T (p.Glu514Asp) c.1575G>T (p.Glu525Asp) c.1569G>T (p.Glu523Asp) c.474G>T (p.Glu158Asp) | |
1 | g.9264036T>A | CA338193258 | H6PD | c.1543T>A (p.Phe515Ile) c.1576T>A (p.Phe526Ile) c.1570T>A (p.Phe524Ile) c.475T>A (p.Phe159Ile) | |
1 | g.9264036T>C | CA338193259 | H6PD | c.1543T>C (p.Phe515Leu) c.1576T>C (p.Phe526Leu) c.1570T>C (p.Phe524Leu) c.475T>C (p.Phe159Leu) | |
1 | g.9264036T>G | CA338193260 | H6PD | c.1543T>G (p.Phe515Val) c.1576T>G (p.Phe526Val) c.1570T>G (p.Phe524Val) c.475T>G (p.Phe159Val) | |
1 | g.9264037T>A | CA338193261 | H6PD | c.1544T>A (p.Phe515Tyr) c.1577T>A (p.Phe526Tyr) c.1571T>A (p.Phe524Tyr) c.476T>A (p.Phe159Tyr) | |
1 | g.9264037T>C | CA338193262 | H6PD | c.1544T>C (p.Phe515Ser) c.1577T>C (p.Phe526Ser) c.1571T>C (p.Phe524Ser) c.476T>C (p.Phe159Ser) | dbSNP gnomAD v4 |
1 | g.9264037T>G | CA338193263 | H6PD | c.1544T>G (p.Phe515Cys) c.1577T>G (p.Phe526Cys) c.1571T>G (p.Phe524Cys) c.476T>G (p.Phe159Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264037T= | CA1152693498 | H6PD | c.1544T= (p.Phe515=) c.1577T= (p.Phe526=) c.1571T= (p.Phe524=) c.476T= (p.Phe159=) | |
1 | g.9264038C>A | CA338193264 | H6PD | c.1545C>A (p.Phe515Leu) c.1578C>A (p.Phe526Leu) c.1572C>A (p.Phe524Leu) c.477C>A (p.Phe159Leu) | |
1 | g.9264038C= | CA1152693507 | H6PD | c.1545C= (p.Phe515=) c.1578C= (p.Phe526=) c.1572C= (p.Phe524=) c.477C= (p.Phe159=) | |
1 | g.9264038C>G | CA338193265 | H6PD | c.1545C>G (p.Phe515Leu) c.1578C>G (p.Phe526Leu) c.1572C>G (p.Phe524Leu) c.477C>G (p.Phe159Leu) | |
1 | g.9264038C>T | CA575336 | H6PD | c.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 |
1 | g.9264039A>C | CA338193267 | H6PD | c.1546A>C (p.Ser516Arg) c.1579A>C (p.Ser527Arg) c.1573A>C (p.Ser525Arg) c.478A>C (p.Ser160Arg) | |
1 | g.9264039A>G | CA338193268 | H6PD | c.1546A>G (p.Ser516Gly) c.1579A>G (p.Ser527Gly) c.1573A>G (p.Ser525Gly) c.478A>G (p.Ser160Gly) | |
1 | g.9264039A>T | CA338193266 | H6PD | c.1546A>T (p.Ser516Cys) c.1579A>T (p.Ser527Cys) c.1573A>T (p.Ser525Cys) c.478A>T (p.Ser160Cys) | |
1 | g.9264040G>A | CA338193269 | H6PD | c.1547G>A (p.Ser516Asn) c.1580G>A (p.Ser527Asn) c.1574G>A (p.Ser525Asn) c.479G>A (p.Ser160Asn) | |
1 | g.9264040G>C | CA338193270 | H6PD | c.1547G>C (p.Ser516Thr) c.1580G>C (p.Ser527Thr) c.1574G>C (p.Ser525Thr) c.479G>C (p.Ser160Thr) | gnomAD v4 |
1 | g.9264040G>T | CA338193271 | H6PD | c.1547G>T (p.Ser516Ile) c.1580G>T (p.Ser527Ile) c.1574G>T (p.Ser525Ile) c.479G>T (p.Ser160Ile) | |
1 | g.9264041T>A | CA338193272 | H6PD | c.1548T>A (p.Ser516Arg) c.1581T>A (p.Ser527Arg) c.1575T>A (p.Ser525Arg) c.480T>A (p.Ser160Arg) | |
1 | g.9264041T>C | CA416031921 | H6PD | c.1548T>C (p.Ser516=) c.1581T>C (p.Ser527=) c.1575T>C (p.Ser525=) c.480T>C (p.Ser160=) | |
1 | g.9264041T>G | CA338193273 | H6PD | c.1548T>G (p.Ser516Arg) c.1581T>G (p.Ser527Arg) c.1575T>G (p.Ser525Arg) c.480T>G (p.Ser160Arg) | |
1 | g.9264042A>C | CA338193274 | H6PD | c.1549A>C (p.Ser517Arg) c.1582A>C (p.Ser528Arg) c.1576A>C (p.Ser526Arg) c.481A>C (p.Ser161Arg) | |
1 | g.9264042A>G | CA338193275 | H6PD | c.1549A>G (p.Ser517Gly) c.1582A>G (p.Ser528Gly) c.1576A>G (p.Ser526Gly) c.481A>G (p.Ser161Gly) | gnomAD v4 |
1 | g.9264042A>T | CA338193276 | H6PD | c.1549A>T (p.Ser517Cys) c.1582A>T (p.Ser528Cys) c.1576A>T (p.Ser526Cys) c.481A>T (p.Ser161Cys) | |
1 | g.9264043G>A | CA338193277 | H6PD | c.1550G>A (p.Ser517Asn) c.1583G>A (p.Ser528Asn) c.1577G>A (p.Ser526Asn) c.482G>A (p.Ser161Asn) | gnomAD v4 |
1 | g.9264043G>C | CA338193278 | H6PD | c.1550G>C (p.Ser517Thr) c.1583G>C (p.Ser528Thr) c.1577G>C (p.Ser526Thr) c.482G>C (p.Ser161Thr) | |
1 | g.9264043G>T | CA338193279 | H6PD | c.1550G>T (p.Ser517Ile) c.1583G>T (p.Ser528Ile) c.1577G>T (p.Ser526Ile) c.482G>T (p.Ser161Ile) | |
1 | g.9264044C>A | CA338193280 | H6PD | c.1551C>A (p.Ser517Arg) c.1584C>A (p.Ser528Arg) c.1578C>A (p.Ser526Arg) c.483C>A (p.Ser161Arg) | |
1 | g.9264044C= | CA1143588115 | H6PD | c.1551C= (p.Ser517=) c.1584C= (p.Ser528=) c.1578C= (p.Ser526=) c.483C= (p.Ser161=) | |
1 | g.9264044C>G | CA338193281 | H6PD | c.1551C>G (p.Ser517Arg) c.1584C>G (p.Ser528Arg) c.1578C>G (p.Ser526Arg) c.483C>G (p.Ser161Arg) | |
1 | g.9264044C>T | CA575337 | H6PD | c.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 |
1 | g.9264045G>A | CA575338 | H6PD | c.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 |
1 | g.9264045G>C | CA338193282 | H6PD | c.1552G>C (p.Gly518Arg) c.1585G>C (p.Gly529Arg) c.1579G>C (p.Gly527Arg) c.484G>C (p.Gly162Arg) | |
1 | g.9264045G= | CA1142180157 | H6PD | c.1552G= (p.Gly518=) c.1585G= (p.Gly529=) c.1579G= (p.Gly527=) c.484G= (p.Gly162=) | |
1 | g.9264045G>T | CA338193283 | H6PD | c.1552G>T (p.Gly518Cys) c.1585G>T (p.Gly529Cys) c.1579G>T (p.Gly527Cys) c.484G>T (p.Gly162Cys) | |
1 | g.9264046G>A | CA338193284 | H6PD | c.1553G>A (p.Gly518Asp) c.1586G>A (p.Gly529Asp) c.1580G>A (p.Gly527Asp) c.485G>A (p.Gly162Asp) | |
1 | g.9264046G>C | CA338193285 | H6PD | c.1553G>C (p.Gly518Ala) c.1586G>C (p.Gly529Ala) c.1580G>C (p.Gly527Ala) c.485G>C (p.Gly162Ala) | |
1 | g.9264046G>T | CA338193286 | H6PD | c.1553G>T (p.Gly518Val) c.1586G>T (p.Gly529Val) c.1580G>T (p.Gly527Val) c.485G>T (p.Gly162Val) | |
1 | g.9264051_9264075del | CA2643115496 | H6PD | c.1558_1582del (p.Leu520SerfsTer?) c.1591_1615del (p.Leu531SerfsTer?) c.1585_1609del (p.Leu529SerfsTer?) c.490_514del (p.Leu164SerfsTer?) | gnomAD v4 |
1 | g.9264047C>A | CA416031930 | H6PD | c.1554C>A (p.Gly518=) c.1587C>A (p.Gly529=) c.1581C>A (p.Gly527=) c.486C>A (p.Gly162=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264047C>G | CA416031931 | H6PD | c.1554C>G (p.Gly518=) c.1587C>G (p.Gly529=) c.1581C>G (p.Gly527=) c.486C>G (p.Gly162=) | |
1 | g.9264047C>T | CA416031932 | H6PD | c.1554C>T (p.Gly518=) c.1587C>T (p.Gly529=) c.1581C>T (p.Gly527=) c.486C>T (p.Gly162=) | COSMIC |
1 | g.9264048C>A | CA416031934 | H6PD | c.1555C>A (p.Arg519=) c.1588C>A (p.Arg530=) c.1582C>A (p.Arg528=) c.487C>A (p.Arg163=) | |
1 | g.9264048C= | CA1140593702 | H6PD | c.1555C= (p.Arg519=) c.1588C= (p.Arg530=) c.1582C= (p.Arg528=) c.487C= (p.Arg163=) | |
1 | g.9264048C>G | CA338193287 | H6PD | c.1555C>G (p.Arg519Gly) c.1588C>G (p.Arg530Gly) c.1582C>G (p.Arg528Gly) c.487C>G (p.Arg163Gly) | |
1 | g.9264048C>T | CA575339 | H6PD | c.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 |
1 | g.9264049G>A | CA575340 | H6PD | c.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 |
1 | g.9264049G>C | CA338193288 | H6PD | c.1556G>C (p.Arg519Pro) c.1589G>C (p.Arg530Pro) c.1583G>C (p.Arg528Pro) c.488G>C (p.Arg163Pro) | |
1 | g.9264049G= | CA1143384409 | H6PD | c.1556G= (p.Arg519=) c.1589G= (p.Arg530=) c.1583G= (p.Arg528=) c.488G= (p.Arg163=) | |
1 | g.9264049G>T | CA338193289 | H6PD | c.1556G>T (p.Arg519Leu) c.1589G>T (p.Arg530Leu) c.1583G>T (p.Arg528Leu) c.488G>T (p.Arg163Leu) | gnomAD v4 |
1 | g.9264049_9264052delinsGGTT | CA1152693516 | H6PD | c.1556_1559delinsGGTT (p.Arg519=) c.1589_1592delinsGGTT (p.Arg530=) c.1583_1586delinsGGTT (p.Arg528=) c.488_491delinsGGTT (p.Arg163=) | |
1 | g.9264050G>A | CA575342 | H6PD | c.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 |
1 | g.9264050G>C | CA416031940 | H6PD | c.1557G>C (p.Arg519=) c.1590G>C (p.Arg530=) c.1584G>C (p.Arg528=) c.489G>C (p.Arg163=) | |
1 | g.9264050G= | CA1148878495 | H6PD | c.1557G= (p.Arg519=) c.1590G= (p.Arg530=) c.1584G= (p.Arg528=) c.489G= (p.Arg163=) | |
1 | g.9264050G>T | CA416031941 | H6PD | c.1557G>T (p.Arg519=) c.1590G>T (p.Arg530=) c.1584G>T (p.Arg528=) c.489G>T (p.Arg163=) | |
1 | g.9264053_9264055del | CA575341 | H6PD | c.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 |
1 | g.9264051T>A | CA338193291 | H6PD | c.1558T>A (p.Leu520Met) c.1591T>A (p.Leu531Met) c.1585T>A (p.Leu529Met) c.490T>A (p.Leu164Met) | |
1 | g.9264051T>C | CA575343 | H6PD | c.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 |
1 | g.9264051T>G | CA338193290 | H6PD | c.1558T>G (p.Leu520Val) c.1591T>G (p.Leu531Val) c.1585T>G (p.Leu529Val) c.490T>G (p.Leu164Val) | |
1 | g.9264051T= | CA1152693531 | H6PD | c.1558T= (p.Leu520=) c.1591T= (p.Leu531=) c.1585T= (p.Leu529=) c.490T= (p.Leu164=) | |
1 | g.9264052T>A | CA338193292 | H6PD | c.1559T>A (p.Leu520Ter) c.1592T>A (p.Leu531Ter) c.1586T>A (p.Leu529Ter) c.491T>A (p.Leu164Ter) | |
1 | g.9264052T>C | CA338193293 | H6PD | c.1559T>C (p.Leu520Ser) c.1592T>C (p.Leu531Ser) c.1586T>C (p.Leu529Ser) c.491T>C (p.Leu164Ser) | |
1 | g.9264052T>G | CA575344 | H6PD | c.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 |
1 | g.9264052T= | CA1143867715 | H6PD | c.1559T= (p.Leu520=) c.1592T= (p.Leu531=) c.1586T= (p.Leu529=) c.491T= (p.Leu164=) | |
1 | g.9264053G>A | CA416031950 | H6PD | c.1560G>A (p.Leu520=) c.1593G>A (p.Leu531=) c.1587G>A (p.Leu529=) c.492G>A (p.Leu164=) | dbSNP gnomAD v4 |
1 | g.9264053G>C | CA338193294 | H6PD | c.1560G>C (p.Leu520Phe) c.1593G>C (p.Leu531Phe) c.1587G>C (p.Leu529Phe) c.492G>C (p.Leu164Phe) | |
1 | g.9264053G= | CA1152693551 | H6PD | c.1560G= (p.Leu520=) c.1593G= (p.Leu531=) c.1587G= (p.Leu529=) c.492G= (p.Leu164=) | |
1 | g.9264053G>T | CA338193295 | H6PD | c.1560G>T (p.Leu520Phe) c.1593G>T (p.Leu531Phe) c.1587G>T (p.Leu529Phe) c.492G>T (p.Leu164Phe) | gnomAD v4 |
1 | g.9264053_9264056delinsGTTC | CA1152693541 | H6PD | c.1560_1563delinsGTTC (p.Leu520=) c.1593_1596delinsGTTC (p.Leu531=) c.1587_1590delinsGTTC (p.Leu529=) c.492_495delinsGTTC (p.Leu164=) | |
1 | g.9264054T>A | CA338193296 | H6PD | c.1561T>A (p.Phe521Ile) c.1594T>A (p.Phe532Ile) c.1588T>A (p.Phe530Ile) c.493T>A (p.Phe165Ile) | |
1 | g.9264054T>C | CA338193297 | H6PD | c.1561T>C (p.Phe521Leu) c.1594T>C (p.Phe532Leu) c.1588T>C (p.Phe530Leu) c.493T>C (p.Phe165Leu) | |
1 | g.9264054T>G | CA338193298 | H6PD | c.1561T>G (p.Phe521Val) c.1594T>G (p.Phe532Val) c.1588T>G (p.Phe530Val) c.493T>G (p.Phe165Val) | |
1 | g.9264056_9264058del | CA521451660 | H6PD | c.1563_1565del (p.Phe522del) c.1596_1598del (p.Phe533del) c.1590_1592del (p.Phe531del) c.495_497del (p.Phe166del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264055T>A | CA338193299 | H6PD | c.1562T>A (p.Phe521Tyr) c.1595T>A (p.Phe532Tyr) c.1589T>A (p.Phe530Tyr) c.494T>A (p.Phe165Tyr) | |
1 | g.9264055T>C | CA338193300 | H6PD | c.1562T>C (p.Phe521Ser) c.1595T>C (p.Phe532Ser) c.1589T>C (p.Phe530Ser) c.494T>C (p.Phe165Ser) | gnomAD v4 |
1 | g.9264055T>G | CA338193301 | H6PD | c.1562T>G (p.Phe521Cys) c.1595T>G (p.Phe532Cys) c.1589T>G (p.Phe530Cys) c.494T>G (p.Phe165Cys) | |
1 | g.9264056C>A | CA338193302 | H6PD | c.1563C>A (p.Phe521Leu) c.1596C>A (p.Phe532Leu) c.1590C>A (p.Phe530Leu) c.495C>A (p.Phe165Leu) | |
1 | g.9264056C>G | CA338193303 | H6PD | c.1563C>G (p.Phe521Leu) c.1596C>G (p.Phe532Leu) c.1590C>G (p.Phe530Leu) c.495C>G (p.Phe165Leu) | |
1 | g.9264056C>T | CA416031957 | H6PD | c.1563C>T (p.Phe521=) c.1596C>T (p.Phe532=) c.1590C>T (p.Phe530=) c.495C>T (p.Phe165=) | |
1 | g.9264057T>A | CA338193305 | H6PD | c.1564T>A (p.Phe522Ile) c.1597T>A (p.Phe533Ile) c.1591T>A (p.Phe531Ile) c.496T>A (p.Phe166Ile) | |
1 | g.9264057T>C | CA575345 | H6PD | c.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 |
1 | g.9264057T>G | CA338193304 | H6PD | c.1564T>G (p.Phe522Val) c.1597T>G (p.Phe533Val) c.1591T>G (p.Phe531Val) c.496T>G (p.Phe166Val) | |
1 | g.9264057T= | CA1152693558 | H6PD | c.1564T= (p.Phe522=) c.1597T= (p.Phe533=) c.1591T= (p.Phe531=) c.496T= (p.Phe166=) | |
1 | g.9264058T>A | CA338193306 | H6PD | c.1565T>A (p.Phe522Tyr) c.1598T>A (p.Phe533Tyr) c.1592T>A (p.Phe531Tyr) c.497T>A (p.Phe166Tyr) | |
1 | g.9264058T>C | CA338193307 | H6PD | c.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 |
1 | g.9264058T>G | CA338193308 | H6PD | c.1565T>G (p.Phe522Cys) c.1598T>G (p.Phe533Cys) c.1592T>G (p.Phe531Cys) c.497T>G (p.Phe166Cys) | |
1 | g.9264058T= | CA1152693593 | H6PD | c.1565T= (p.Phe522=) c.1598T= (p.Phe533=) c.1592T= (p.Phe531=) c.497T= (p.Phe166=) | |
1 | g.9264059T>A | CA338193309 | H6PD | c.1566T>A (p.Phe522Leu) c.1599T>A (p.Phe533Leu) c.1593T>A (p.Phe531Leu) c.498T>A (p.Phe166Leu) | |
1 | g.9264059T>C | CA416031964 | H6PD | c.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 |
1 | g.9264059T>G | CA338193310 | H6PD | c.1566T>G (p.Phe522Leu) c.1599T>G (p.Phe533Leu) c.1593T>G (p.Phe531Leu) c.498T>G (p.Phe166Leu) | |
1 | g.9264059T= | CA1152693598 | H6PD | c.1566T= (p.Phe522=) c.1599T= (p.Phe533=) c.1593T= (p.Phe531=) c.498T= (p.Phe166=) | |
1 | g.9264060T>A | CA338193311 | H6PD | c.1567T>A (p.Ser523Thr) c.1600T>A (p.Ser534Thr) c.1594T>A (p.Ser532Thr) c.499T>A (p.Ser167Thr) | |
1 | g.9264060T>C | CA17751077 | H6PD | c.1567T>C (p.Ser523Pro) c.1600T>C (p.Ser534Pro) c.1594T>C (p.Ser532Pro) c.499T>C (p.Ser167Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264060T>G | CA338193312 | H6PD | c.1567T>G (p.Ser523Ala) c.1600T>G (p.Ser534Ala) c.1594T>G (p.Ser532Ala) c.499T>G (p.Ser167Ala) | |
1 | g.9264060T= | CA1152693601 | H6PD | c.1567T= (p.Ser523=) c.1600T= (p.Ser534=) c.1594T= (p.Ser532=) c.499T= (p.Ser167=) | |
1 | g.9264061C>A | CA338193313 | H6PD | c.1568C>A (p.Ser523Tyr) c.1601C>A (p.Ser534Tyr) c.1595C>A (p.Ser532Tyr) c.500C>A (p.Ser167Tyr) | |
1 | g.9264061C>G | CA338193314 | H6PD | c.1568C>G (p.Ser523Cys) c.1601C>G (p.Ser534Cys) c.1595C>G (p.Ser532Cys) c.500C>G (p.Ser167Cys) | |
1 | g.9264061C>T | CA338193315 | H6PD | c.1568C>T (p.Ser523Phe) c.1601C>T (p.Ser534Phe) c.1595C>T (p.Ser532Phe) c.500C>T (p.Ser167Phe) | COSMIC |
1 | g.9264062C>A | CA416031971 | H6PD | c.1569C>A (p.Ser523=) c.1602C>A (p.Ser534=) c.1596C>A (p.Ser532=) c.501C>A (p.Ser167=) | |
1 | g.9264062C>G | CA416031972 | H6PD | c.1569C>G (p.Ser523=) c.1602C>G (p.Ser534=) c.1596C>G (p.Ser532=) c.501C>G (p.Ser167=) | gnomAD v4 |
1 | g.9264062C>T | CA416031973 | H6PD | c.1569C>T (p.Ser523=) c.1602C>T (p.Ser534=) c.1596C>T (p.Ser532=) c.501C>T (p.Ser167=) | |
1 | g.9264063C>A | CA338193316 | H6PD | c.1570C>A (p.Gln524Lys) c.1603C>A (p.Gln535Lys) c.1597C>A (p.Gln533Lys) c.502C>A (p.Gln168Lys) | |
1 | g.9264063C= | CA1152693613 | H6PD | c.1570C= (p.Gln524=) c.1603C= (p.Gln535=) c.1597C= (p.Gln533=) c.502C= (p.Gln168=) | |
1 | g.9264063C>G | CA338193317 | H6PD | c.1570C>G (p.Gln524Glu) c.1603C>G (p.Gln535Glu) c.1597C>G (p.Gln533Glu) c.502C>G (p.Gln168Glu) | COSMIC |
1 | g.9264063C>T | CA338193318 | H6PD | c.1570C>T (p.Gln524Ter) c.1603C>T (p.Gln535Ter) c.1597C>T (p.Gln533Ter) c.502C>T (p.Gln168Ter) | dbSNP gnomAD v4 |
1 | g.9264064A>C | CA338193320 | H6PD | c.1571A>C (p.Gln524Pro) c.1604A>C (p.Gln535Pro) c.1598A>C (p.Gln533Pro) c.503A>C (p.Gln168Pro) | |
1 | g.9264064A>G | CA338193321 | H6PD | c.1571A>G (p.Gln524Arg) c.1604A>G (p.Gln535Arg) c.1598A>G (p.Gln533Arg) c.503A>G (p.Gln168Arg) | gnomAD v4 |
1 | g.9264064A>T | CA338193319 | H6PD | c.1571A>T (p.Gln524Leu) c.1604A>T (p.Gln535Leu) c.1598A>T (p.Gln533Leu) c.503A>T (p.Gln168Leu) | |
1 | g.9264065G>A | CA575346 | H6PD | c.1572G>A (p.Gln524=) c.1605G>A (p.Gln535=) c.1599G>A (p.Gln533=) c.504G>A (p.Gln168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264065G>C | CA338193322 | H6PD | c.1572G>C (p.Gln524His) c.1605G>C (p.Gln535His) c.1599G>C (p.Gln533His) c.504G>C (p.Gln168His) | |
1 | g.9264065G= | CA1152693618 | H6PD | c.1572G= (p.Gln524=) c.1605G= (p.Gln535=) c.1599G= (p.Gln533=) c.504G= (p.Gln168=) | |
1 | g.9264065G>T | CA338193323 | H6PD | c.1572G>T (p.Gln524His) c.1605G>T (p.Gln535His) c.1599G>T (p.Gln533His) c.504G>T (p.Gln168His) | |
1 | g.9264066C>A | CA338193324 | H6PD | c.1573C>A (p.Gln525Lys) c.1606C>A (p.Gln536Lys) c.1600C>A (p.Gln534Lys) c.505C>A (p.Gln169Lys) | |
1 | g.9264066C>G | CA338193325 | H6PD | c.1573C>G (p.Gln525Glu) c.1606C>G (p.Gln536Glu) c.1600C>G (p.Gln534Glu) c.505C>G (p.Gln169Glu) | |
1 | g.9264066C>T | CA338193326 | H6PD | c.1573C>T (p.Gln525Ter) c.1606C>T (p.Gln536Ter) c.1600C>T (p.Gln534Ter) c.505C>T (p.Gln169Ter) | |
1 | g.9264066_9264075delinsCAGCAGCCGG | CA1152693623 | H6PD | c.1573_1582delinsCAGCAGCCGG (p.Gln525=) c.1606_1615delinsCAGCAGCCGG (p.Gln536=) c.1600_1609delinsCAGCAGCCGG (p.Gln534=) c.505_514delinsCAGCAGCCGG (p.Gln169=) |