Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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=) | |
1 | g.9264067A= | CA1152693629 | H6PD | c.1574A= (p.Gln525=) c.1607A= (p.Gln536=) c.1601A= (p.Gln534=) c.506A= (p.Gln169=) | |
1 | g.9264067A>C | CA575348 | H6PD | c.1574A>C (p.Gln525Pro) c.1607A>C (p.Gln536Pro) c.1601A>C (p.Gln534Pro) c.506A>C (p.Gln169Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264067A>G | CA338193327 | H6PD | c.1574A>G (p.Gln525Arg) c.1607A>G (p.Gln536Arg) c.1601A>G (p.Gln534Arg) c.506A>G (p.Gln169Arg) | COSMIC |
1 | g.9264067A>T | CA338193328 | H6PD | c.1574A>T (p.Gln525Leu) c.1607A>T (p.Gln536Leu) c.1601A>T (p.Gln534Leu) c.506A>T (p.Gln169Leu) | |
1 | g.9264073_9264081del | CA575347 | H6PD | c.1580_1588del (p.Pro527_Gln529del) c.1613_1621del (p.Pro538_Gln540del) c.1607_1615del (p.Pro536_Gln538del) c.512_520del (p.Pro171_Gln173del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264067_9264068insCACACCAAACACACCCAAC | CA2742402684 | H6PD | c.1574_1575insCACACCAAACACACCCAAC (p.Gln525HisfsTer24) c.1607_1608insCACACCAAACACACCCAAC (p.Gln536HisfsTer24) c.1601_1602insCACACCAAACACACCCAAC (p.Gln534HisfsTer24) c.506_507insCACACCAAACACACCCAAC (p.Gln169HisfsTer24) | |
1 | g.9264068G>A | CA416031981 | H6PD | c.1575G>A (p.Gln525=) c.1608G>A (p.Gln536=) c.1602G>A (p.Gln534=) c.507G>A (p.Gln169=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264068G>C | CA338193329 | H6PD | c.1575G>C (p.Gln525His) c.1608G>C (p.Gln536His) c.1602G>C (p.Gln534His) c.507G>C (p.Gln169His) | |
1 | g.9264068G= | CA1152693634 | H6PD | c.1575G= (p.Gln525=) c.1608G= (p.Gln536=) c.1602G= (p.Gln534=) c.507G= (p.Gln169=) | |
1 | g.9264068G>T | CA338193330 | H6PD | c.1575G>T (p.Gln525His) c.1608G>T (p.Gln536His) c.1602G>T (p.Gln534His) c.507G>T (p.Gln169His) | |
1 | g.9264069C>A | CA338193333 | H6PD | c.1576C>A (p.Gln526Lys) c.1609C>A (p.Gln537Lys) c.1603C>A (p.Gln535Lys) c.508C>A (p.Gln170Lys) | |
1 | g.9264069C= | CA1152693640 | H6PD | c.1576C= (p.Gln526=) c.1609C= (p.Gln537=) c.1603C= (p.Gln535=) c.508C= (p.Gln170=) | |
1 | g.9264069C>G | CA338193331 | H6PD | c.1576C>G (p.Gln526Glu) c.1609C>G (p.Gln537Glu) c.1603C>G (p.Gln535Glu) c.508C>G (p.Gln170Glu) | |
1 | g.9264069C>T | CA338193332 | H6PD | c.1576C>T (p.Gln526Ter) c.1609C>T (p.Gln537Ter) c.1603C>T (p.Gln535Ter) c.508C>T (p.Gln170Ter) | dbSNP gnomAD v4 |
1 | g.9264070A>C | CA338193334 | H6PD | c.1577A>C (p.Gln526Pro) c.1610A>C (p.Gln537Pro) c.1604A>C (p.Gln535Pro) c.509A>C (p.Gln170Pro) | |
1 | g.9264070A>G | CA338193335 | H6PD | c.1577A>G (p.Gln526Arg) c.1610A>G (p.Gln537Arg) c.1604A>G (p.Gln535Arg) c.509A>G (p.Gln170Arg) | |
1 | g.9264070A>T | CA338193336 | H6PD | c.1577A>T (p.Gln526Leu) c.1610A>T (p.Gln537Leu) c.1604A>T (p.Gln535Leu) c.509A>T (p.Gln170Leu) | |
1 | g.9264071G>A | CA416031989 | H6PD | c.1578G>A (p.Gln526=) c.1611G>A (p.Gln537=) c.1605G>A (p.Gln535=) c.510G>A (p.Gln170=) | gnomAD v4 |
1 | g.9264071G>C | CA338193337 | H6PD | c.1578G>C (p.Gln526His) c.1611G>C (p.Gln537His) c.1605G>C (p.Gln535His) c.510G>C (p.Gln170His) | |
1 | g.9264071G= | CA1152693648 | H6PD | c.1578G= (p.Gln526=) c.1611G= (p.Gln537=) c.1605G= (p.Gln535=) c.510G= (p.Gln170=) | |
1 | g.9264071G>T | CA575349 | H6PD | c.1578G>T (p.Gln526His) c.1611G>T (p.Gln537His) c.1605G>T (p.Gln535His) c.510G>T (p.Gln170His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264072C>A | CA338193338 | H6PD | c.1579C>A (p.Pro527Thr) c.1612C>A (p.Pro538Thr) c.1606C>A (p.Pro536Thr) c.511C>A (p.Pro171Thr) | |
1 | g.9264072C>G | CA338193339 | H6PD | c.1579C>G (p.Pro527Ala) c.1612C>G (p.Pro538Ala) c.1606C>G (p.Pro536Ala) c.511C>G (p.Pro171Ala) | |
1 | g.9264072C>T | CA338193340 | H6PD | c.1579C>T (p.Pro527Ser) c.1612C>T (p.Pro538Ser) c.1606C>T (p.Pro536Ser) c.511C>T (p.Pro171Ser) | |
1 | g.9264073C>A | CA338193341 | H6PD | c.1580C>A (p.Pro527Gln) c.1613C>A (p.Pro538Gln) c.1607C>A (p.Pro536Gln) c.512C>A (p.Pro171Gln) | gnomAD v4 |
1 | g.9264073C= | CA1152693653 | H6PD | c.1580C= (p.Pro527=) c.1613C= (p.Pro538=) c.1607C= (p.Pro536=) c.512C= (p.Pro171=) | |
1 | g.9264073C>G | CA338193342 | H6PD | c.1580C>G (p.Pro527Arg) c.1613C>G (p.Pro538Arg) c.1607C>G (p.Pro536Arg) c.512C>G (p.Pro171Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264073C>T | CA17751088 | H6PD | c.1580C>T (p.Pro527Leu) c.1613C>T (p.Pro538Leu) c.1607C>T (p.Pro536Leu) c.512C>T (p.Pro171Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264074G>A | CA575350 | H6PD | c.1581G>A (p.Pro527=) c.1614G>A (p.Pro538=) c.1608G>A (p.Pro536=) c.513G>A (p.Pro171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264074G>C | CA416031995 | H6PD | c.1581G>C (p.Pro527=) c.1614G>C (p.Pro538=) c.1608G>C (p.Pro536=) c.513G>C (p.Pro171=) | |
1 | g.9264074G= | CA1143457255 | H6PD | c.1581G= (p.Pro527=) c.1614G= (p.Pro538=) c.1608G= (p.Pro536=) c.513G= (p.Pro171=) | |
1 | g.9264074G>T | CA416031999 | H6PD | c.1581G>T (p.Pro527=) c.1614G>T (p.Pro538=) c.1608G>T (p.Pro536=) c.513G>T (p.Pro171=) | |
1 | g.9264075G>A | CA338193344 | H6PD | c.1582G>A (p.Glu528Lys) c.1615G>A (p.Glu539Lys) c.1609G>A (p.Glu537Lys) c.514G>A (p.Glu172Lys) | dbSNP |
1 | g.9264075G>C | CA338193345 | H6PD | c.1582G>C (p.Glu528Gln) c.1615G>C (p.Glu539Gln) c.1609G>C (p.Glu537Gln) c.514G>C (p.Glu172Gln) | |
1 | g.9264075G= | CA1152693660 | H6PD | c.1582G= (p.Glu528=) c.1615G= (p.Glu539=) c.1609G= (p.Glu537=) c.514G= (p.Glu172=) | |
1 | g.9264075G>T | CA338193343 | H6PD | c.1582G>T (p.Glu528Ter) c.1615G>T (p.Glu539Ter) c.1609G>T (p.Glu537Ter) c.514G>T (p.Glu172Ter) | |
1 | g.9264076A= | CA1152693665 | H6PD | c.1583A= (p.Glu528=) c.1616A= (p.Glu539=) c.1610A= (p.Glu537=) c.515A= (p.Glu172=) | |
1 | g.9264076A>C | CA338193347 | H6PD | c.1583A>C (p.Glu528Ala) c.1616A>C (p.Glu539Ala) c.1610A>C (p.Glu537Ala) c.515A>C (p.Glu172Ala) | |
1 | g.9264076A>G | CA338193346 | H6PD | c.1583A>G (p.Glu528Gly) c.1616A>G (p.Glu539Gly) c.1610A>G (p.Glu537Gly) c.515A>G (p.Glu172Gly) | dbSNP gnomAD v4 |
1 | g.9264076A>T | CA338193348 | H6PD | c.1583A>T (p.Glu528Val) c.1616A>T (p.Glu539Val) c.1610A>T (p.Glu537Val) c.515A>T (p.Glu172Val) | |
1 | g.9264077G>A | CA416032006 | H6PD | c.1584G>A (p.Glu528=) c.1617G>A (p.Glu539=) c.1611G>A (p.Glu537=) c.516G>A (p.Glu172=) | |
1 | g.9264077G>C | CA338193349 | H6PD | c.1584G>C (p.Glu528Asp) c.1617G>C (p.Glu539Asp) c.1611G>C (p.Glu537Asp) c.516G>C (p.Glu172Asp) | |
1 | g.9264077G>T | CA338193350 | H6PD | c.1584G>T (p.Glu528Asp) c.1617G>T (p.Glu539Asp) c.1611G>T (p.Glu537Asp) c.516G>T (p.Glu172Asp) | |
1 | g.9264078C>A | CA338193351 | H6PD | c.1585C>A (p.Gln529Lys) c.1618C>A (p.Gln540Lys) c.1612C>A (p.Gln538Lys) c.517C>A (p.Gln173Lys) | |
1 | g.9264078C>G | CA338193352 | H6PD | c.1585C>G (p.Gln529Glu) c.1618C>G (p.Gln540Glu) c.1612C>G (p.Gln538Glu) c.517C>G (p.Gln173Glu) | |
1 | g.9264078C>T | CA338193353 | H6PD | c.1585C>T (p.Gln529Ter) c.1618C>T (p.Gln540Ter) c.1612C>T (p.Gln538Ter) c.517C>T (p.Gln173Ter) | |
1 | g.9264079A= | CA1152693673 | H6PD | c.1586A= (p.Gln529=) c.1619A= (p.Gln540=) c.1613A= (p.Gln538=) c.518A= (p.Gln173=) | |
1 | g.9264079A>C | CA338193354 | H6PD | c.1586A>C (p.Gln529Pro) c.1619A>C (p.Gln540Pro) c.1613A>C (p.Gln538Pro) c.518A>C (p.Gln173Pro) | |
1 | g.9264079A>G | CA338193355 | H6PD | c.1586A>G (p.Gln529Arg) c.1619A>G (p.Gln540Arg) c.1613A>G (p.Gln538Arg) c.518A>G (p.Gln173Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264079A>T | CA338193356 | H6PD | c.1586A>T (p.Gln529Leu) c.1619A>T (p.Gln540Leu) c.1613A>T (p.Gln538Leu) c.518A>T (p.Gln173Leu) | |
1 | g.9264080G>A | CA416032016 | H6PD | c.1587G>A (p.Gln529=) c.1620G>A (p.Gln540=) c.1614G>A (p.Gln538=) c.519G>A (p.Gln173=) | |
1 | g.9264080G>C | CA338193357 | H6PD | c.1587G>C (p.Gln529His) c.1620G>C (p.Gln540His) c.1614G>C (p.Gln538His) c.519G>C (p.Gln173His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264080G= | CA1152693679 | H6PD | c.1587G= (p.Gln529=) c.1620G= (p.Gln540=) c.1614G= (p.Gln538=) c.519G= (p.Gln173=) | |
1 | g.9264080G>T | CA338193358 | H6PD | c.1587G>T (p.Gln529His) c.1620G>T (p.Gln540His) c.1614G>T (p.Gln538His) c.519G>T (p.Gln173His) | dbSNP gnomAD v4 |
1 | g.9264081C>A | CA338193359 | H6PD | c.1588C>A (p.Leu530Met) c.1621C>A (p.Leu541Met) c.1615C>A (p.Leu539Met) c.520C>A (p.Leu174Met) | |
1 | g.9264081C>G | CA338193360 | H6PD | c.1588C>G (p.Leu530Val) c.1621C>G (p.Leu541Val) c.1615C>G (p.Leu539Val) c.520C>G (p.Leu174Val) | |
1 | g.9264081C>T | CA416032021 | H6PD | c.1588C>T (p.Leu530=) c.1621C>T (p.Leu541=) c.1615C>T (p.Leu539=) c.520C>T (p.Leu174=) | gnomAD v4 |
1 | g.9264082T>A | CA338193361 | H6PD | c.1589T>A (p.Leu530Gln) c.1622T>A (p.Leu541Gln) c.1616T>A (p.Leu539Gln) c.521T>A (p.Leu174Gln) | |
1 | g.9264082T>C | CA338193362 | H6PD | c.1589T>C (p.Leu530Pro) c.1622T>C (p.Leu541Pro) c.1616T>C (p.Leu539Pro) c.521T>C (p.Leu174Pro) | dbSNP |
1 | g.9264082T>G | CA338193363 | H6PD | c.1589T>G (p.Leu530Arg) c.1622T>G (p.Leu541Arg) c.1616T>G (p.Leu539Arg) c.521T>G (p.Leu174Arg) | |
1 | g.9264082T= | CA1152693686 | H6PD | c.1589T= (p.Leu530=) c.1622T= (p.Leu541=) c.1616T= (p.Leu539=) c.521T= (p.Leu174=) | |
1 | g.9264083G>A | CA416032025 | H6PD | c.1590G>A (p.Leu530=) c.1623G>A (p.Leu541=) c.1617G>A (p.Leu539=) c.522G>A (p.Leu174=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264083G>C | CA416032026 | H6PD | c.1590G>C (p.Leu530=) c.1623G>C (p.Leu541=) c.1617G>C (p.Leu539=) c.522G>C (p.Leu174=) | |
1 | g.9264083G= | CA1152693694 | H6PD | c.1590G= (p.Leu530=) c.1623G= (p.Leu541=) c.1617G= (p.Leu539=) c.522G= (p.Leu174=) | |
1 | g.9264083G>T | CA416032027 | H6PD | c.1590G>T (p.Leu530=) c.1623G>T (p.Leu541=) c.1617G>T (p.Leu539=) c.522G>T (p.Leu174=) | |
1 | g.9264084G>A | CA338193365 | H6PD | c.1591G>A (p.Val531Met) c.1624G>A (p.Val542Met) c.1618G>A (p.Val540Met) c.523G>A (p.Val175Met) | dbSNP |
1 | g.9264084G>C | CA575351 | H6PD | c.1591G>C (p.Val531Leu) c.1624G>C (p.Val542Leu) c.1618G>C (p.Val540Leu) c.523G>C (p.Val175Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264084G= | CA1152693697 | H6PD | c.1591G= (p.Val531=) c.1624G= (p.Val542=) c.1618G= (p.Val540=) c.523G= (p.Val175=) | |
1 | g.9264084G>T | CA338193364 | H6PD | c.1591G>T (p.Val531Leu) c.1624G>T (p.Val542Leu) c.1618G>T (p.Val540Leu) c.523G>T (p.Val175Leu) | dbSNP |
1 | g.9264085T>A | CA338193366 | H6PD | c.1592T>A (p.Val531Glu) c.1625T>A (p.Val542Glu) c.1619T>A (p.Val540Glu) c.524T>A (p.Val175Glu) | |
1 | g.9264085T>C | CA338193367 | H6PD | c.1592T>C (p.Val531Ala) c.1625T>C (p.Val542Ala) c.1619T>C (p.Val540Ala) c.524T>C (p.Val175Ala) | gnomAD v4 |
1 | g.9264085T>G | CA338193368 | H6PD | c.1592T>G (p.Val531Gly) c.1625T>G (p.Val542Gly) c.1619T>G (p.Val540Gly) c.524T>G (p.Val175Gly) | |
1 | g.9264085_9264091delinsTGCCAGG | CA1152693701 | H6PD | c.1592_1598delinsTGCCAGG (p.Val531=) c.1625_1631delinsTGCCAGG (p.Val542=) c.1619_1625delinsTGCCAGG (p.Val540=) c.524_530delinsTGCCAGG (p.Val175=) | |
1 | g.9264086G>A | CA17751123 | H6PD | c.1593G>A (p.Val531=) c.1626G>A (p.Val542=) c.1620G>A (p.Val540=) c.525G>A (p.Val175=) | dbSNP gnomAD v4 |
1 | g.9264086G>C | CA416032035 | H6PD | c.1593G>C (p.Val531=) c.1626G>C (p.Val542=) c.1620G>C (p.Val540=) c.525G>C (p.Val175=) | |
1 | g.9264086G= | CA1144165100 | H6PD | c.1593G= (p.Val531=) c.1626G= (p.Val542=) c.1620G= (p.Val540=) c.525G= (p.Val175=) | |
1 | g.9264086G>T | CA416032037 | H6PD | c.1593G>T (p.Val531=) c.1626G>T (p.Val542=) c.1620G>T (p.Val540=) c.525G>T (p.Val175=) | dbSNP |
1 | g.9264095_9264100dup | CA575352 | H6PD | c.1602_1607dup (p.Pro536_Ala537insGlyPro) c.1635_1640dup (p.Pro547_Ala548insGlyPro) c.1629_1634dup (p.Pro545_Ala546insGlyPro) c.534_539dup (p.Pro180_Ala181insGlyPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264095_9264100del | CA1152693712 | H6PD | c.1602_1607del (p.Gly535_Pro536del) c.1635_1640del (p.Gly546_Pro547del) c.1629_1634del (p.Gly544_Pro545del) c.534_539del (p.Gly179_Pro180del) | dbSNP |
1 | g.9264087C>A | CA17751125 | H6PD | c.1594C>A (p.Pro532Thr) c.1627C>A (p.Pro543Thr) c.1621C>A (p.Pro541Thr) c.526C>A (p.Pro176Thr) | dbSNP |
1 | g.9264087C= | CA1143690824 | H6PD | c.1594C= (p.Pro532=) c.1627C= (p.Pro543=) c.1621C= (p.Pro541=) c.526C= (p.Pro176=) | |
1 | g.9264087C>G | CA338193370 | H6PD | c.1594C>G (p.Pro532Ala) c.1627C>G (p.Pro543Ala) c.1621C>G (p.Pro541Ala) c.526C>G (p.Pro176Ala) | |
1 | g.9264087C>T | CA338193369 | H6PD | c.1594C>T (p.Pro532Ser) c.1627C>T (p.Pro543Ser) c.1621C>T (p.Pro541Ser) c.526C>T (p.Pro176Ser) | |
1 | g.9264088C>A | CA338193371 | H6PD | c.1595C>A (p.Pro532Gln) c.1628C>A (p.Pro543Gln) c.1622C>A (p.Pro541Gln) c.527C>A (p.Pro176Gln) | |
1 | g.9264088C>G | CA338193372 | H6PD | c.1595C>G (p.Pro532Arg) c.1628C>G (p.Pro543Arg) c.1622C>G (p.Pro541Arg) c.527C>G (p.Pro176Arg) | |
1 | g.9264088C>T | CA338193373 | H6PD | c.1595C>T (p.Pro532Leu) c.1628C>T (p.Pro543Leu) c.1622C>T (p.Pro541Leu) c.527C>T (p.Pro176Leu) | gnomAD v4 |
1 | g.9264089A>C | CA416032041 | H6PD | c.1596A>C (p.Pro532=) c.1629A>C (p.Pro543=) c.1623A>C (p.Pro541=) c.528A>C (p.Pro176=) | |
1 | g.9264089A>G | CA416032043 | H6PD | c.1596A>G (p.Pro532=) c.1629A>G (p.Pro543=) c.1623A>G (p.Pro541=) c.528A>G (p.Pro176=) | |
1 | g.9264089A>T | CA416032044 | H6PD | c.1596A>T (p.Pro532=) c.1629A>T (p.Pro543=) c.1623A>T (p.Pro541=) c.528A>T (p.Pro176=) | |
1 | g.9264090G>A | CA338193374 | H6PD | c.1597G>A (p.Gly533Arg) c.1630G>A (p.Gly544Arg) c.1624G>A (p.Gly542Arg) c.529G>A (p.Gly177Arg) | gnomAD v4 |
1 | g.9264090G>C | CA338193375 | H6PD | c.1597G>C (p.Gly533Arg) c.1630G>C (p.Gly544Arg) c.1624G>C (p.Gly542Arg) c.529G>C (p.Gly177Arg) | |
1 | g.9264090G>T | CA338193376 | H6PD | c.1597G>T (p.Gly533Trp) c.1630G>T (p.Gly544Trp) c.1624G>T (p.Gly542Trp) c.529G>T (p.Gly177Trp) | |
1 | g.9264091G>A | CA575353 | H6PD | c.1598G>A (p.Gly533Glu) c.1631G>A (p.Gly544Glu) c.1625G>A (p.Gly542Glu) c.530G>A (p.Gly177Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264091G>C | CA338193378 | H6PD | c.1598G>C (p.Gly533Ala) c.1631G>C (p.Gly544Ala) c.1625G>C (p.Gly542Ala) c.530G>C (p.Gly177Ala) | |
1 | g.9264091G= | CA1152693725 | H6PD | c.1598G= (p.Gly533=) c.1631G= (p.Gly544=) c.1625G= (p.Gly542=) c.530G= (p.Gly177=) | |
1 | g.9264091G>T | CA338193377 | H6PD | c.1598G>T (p.Gly533Val) c.1631G>T (p.Gly544Val) c.1625G>T (p.Gly542Val) c.530G>T (p.Gly177Val) | |
1 | g.9264092G>A | CA416032049 | H6PD | c.1599G>A (p.Gly533=) c.1632G>A (p.Gly544=) c.1626G>A (p.Gly542=) c.531G>A (p.Gly177=) | gnomAD v4 |
1 | g.9264092G>C | CA416032053 | H6PD | c.1599G>C (p.Gly533=) c.1632G>C (p.Gly544=) c.1626G>C (p.Gly542=) c.531G>C (p.Gly177=) | |
1 | g.9264092G>T | CA416032051 | H6PD | c.1599G>T (p.Gly533=) c.1632G>T (p.Gly544=) c.1626G>T (p.Gly542=) c.531G>T (p.Gly177=) | |
1 | g.9264093C>A | CA338193379 | H6PD | c.1600C>A (p.Pro534Thr) c.1633C>A (p.Pro545Thr) c.1627C>A (p.Pro543Thr) c.532C>A (p.Pro178Thr) | |
1 | g.9264093C>G | CA338193380 | H6PD | c.1600C>G (p.Pro534Ala) c.1633C>G (p.Pro545Ala) c.1627C>G (p.Pro543Ala) c.532C>G (p.Pro178Ala) | |
1 | g.9264093C>T | CA338193381 | H6PD | c.1600C>T (p.Pro534Ser) c.1633C>T (p.Pro545Ser) c.1627C>T (p.Pro543Ser) c.532C>T (p.Pro178Ser) | gnomAD v4 |
1 | g.9264094C>A | CA338193382 | H6PD | c.1601C>A (p.Pro534Gln) c.1634C>A (p.Pro545Gln) c.1628C>A (p.Pro543Gln) c.533C>A (p.Pro178Gln) | |
1 | g.9264094C>G | CA338193383 | H6PD | c.1601C>G (p.Pro534Arg) c.1634C>G (p.Pro545Arg) c.1628C>G (p.Pro543Arg) c.533C>G (p.Pro178Arg) | |
1 | g.9264094C>T | CA338193384 | H6PD | c.1601C>T (p.Pro534Leu) c.1634C>T (p.Pro545Leu) c.1628C>T (p.Pro543Leu) c.533C>T (p.Pro178Leu) | |
1 | g.9264095A>C | CA416032057 | H6PD | c.1602A>C (p.Pro534=) c.1635A>C (p.Pro545=) c.1629A>C (p.Pro543=) c.534A>C (p.Pro178=) | |
1 | g.9264095A>G | CA416032059 | H6PD | c.1602A>G (p.Pro534=) c.1635A>G (p.Pro545=) c.1629A>G (p.Pro543=) c.534A>G (p.Pro178=) | |
1 | g.9264095A>T | CA416032061 | H6PD | c.1602A>T (p.Pro534=) c.1635A>T (p.Pro545=) c.1629A>T (p.Pro543=) c.534A>T (p.Pro178=) | |
1 | g.9264096G>A | CA338193385 | H6PD | c.1603G>A (p.Gly535Arg) c.1636G>A (p.Gly546Arg) c.1630G>A (p.Gly544Arg) c.535G>A (p.Gly179Arg) | gnomAD v4 |
1 | g.9264096G>C | CA338193386 | H6PD | c.1603G>C (p.Gly535Arg) c.1636G>C (p.Gly546Arg) c.1630G>C (p.Gly544Arg) c.535G>C (p.Gly179Arg) | |
1 | g.9264096G>T | CA338193387 | H6PD | c.1603G>T (p.Gly535Trp) c.1636G>T (p.Gly546Trp) c.1630G>T (p.Gly544Trp) c.535G>T (p.Gly179Trp) | |
1 | g.9264097G>A | CA338193388 | H6PD | c.1604G>A (p.Gly535Glu) c.1637G>A (p.Gly546Glu) c.1631G>A (p.Gly544Glu) c.536G>A (p.Gly179Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264097G>C | CA338193389 | H6PD | c.1604G>C (p.Gly535Ala) c.1637G>C (p.Gly546Ala) c.1631G>C (p.Gly544Ala) c.536G>C (p.Gly179Ala) | |
1 | g.9264097G= | CA1152693729 | H6PD | c.1604G= (p.Gly535=) c.1637G= (p.Gly546=) c.1631G= (p.Gly544=) c.536G= (p.Gly179=) | |
1 | g.9264097G>T | CA338193390 | H6PD | c.1604G>T (p.Gly535Val) c.1637G>T (p.Gly546Val) c.1631G>T (p.Gly544Val) c.536G>T (p.Gly179Val) | COSMIC |
1 | g.9264098G>A | CA416032070 | H6PD | c.1605G>A (p.Gly535=) c.1638G>A (p.Gly546=) c.1632G>A (p.Gly544=) c.537G>A (p.Gly179=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264098G>C | CA416032071 | H6PD | c.1605G>C (p.Gly535=) c.1638G>C (p.Gly546=) c.1632G>C (p.Gly544=) c.537G>C (p.Gly179=) | |
1 | g.9264098G= | CA1152693735 | H6PD | c.1605G= (p.Gly535=) c.1638G= (p.Gly546=) c.1632G= (p.Gly544=) c.537G= (p.Gly179=) | |
1 | g.9264098G>T | CA416032072 | H6PD | c.1605G>T (p.Gly535=) c.1638G>T (p.Gly546=) c.1632G>T (p.Gly544=) c.537G>T (p.Gly179=) | gnomAD v4 |
1 | g.9264098_9264099delinsGC | CA1152693737 | H6PD | c.1605_1606delinsGC (p.Gly535=) c.1638_1639delinsGC (p.Gly546=) c.1632_1633delinsGC (p.Gly544=) c.537_538delinsGC (p.Gly179=) | |
1 | g.9264099C>A | CA338193391 | H6PD | c.1606C>A (p.Pro536Thr) c.1639C>A (p.Pro547Thr) c.1633C>A (p.Pro545Thr) c.538C>A (p.Pro180Thr) | gnomAD v4 |
1 | g.9264099C= | CA1141865412 | H6PD | c.1606C= (p.Pro536=) c.1639C= (p.Pro547=) c.1633C= (p.Pro545=) c.538C= (p.Pro180=) | |
1 | g.9264099C>G | CA338193392 | H6PD | c.1606C>G (p.Pro536Ala) c.1639C>G (p.Pro547Ala) c.1633C>G (p.Pro545Ala) c.538C>G (p.Pro180Ala) | |
1 | g.9264099C>T | CA575354 | H6PD | c.1606C>T (p.Pro536Ser) c.1639C>T (p.Pro547Ser) c.1633C>T (p.Pro545Ser) c.538C>T (p.Pro180Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264100del | CA1152693762 | H6PD | c.1607del (p.Pro536ArgfsTer28) c.1640del (p.Pro547ArgfsTer28) c.1634del (p.Pro545ArgfsTer28) c.539del (p.Pro180ArgfsTer28) | dbSNP |
1 | g.9264100C>A | CA338193393 | H6PD | c.1607C>A (p.Pro536Gln) c.1640C>A (p.Pro547Gln) c.1634C>A (p.Pro545Gln) c.539C>A (p.Pro180Gln) | |
1 | g.9264100C= | CA1152693768 | H6PD | c.1607C= (p.Pro536=) c.1640C= (p.Pro547=) c.1634C= (p.Pro545=) c.539C= (p.Pro180=) | |
1 | g.9264100C>G | CA338193394 | H6PD | c.1607C>G (p.Pro536Arg) c.1640C>G (p.Pro547Arg) c.1634C>G (p.Pro545Arg) c.539C>G (p.Pro180Arg) | |
1 | g.9264100C>T | CA575355 | H6PD | c.1607C>T (p.Pro536Leu) c.1640C>T (p.Pro547Leu) c.1634C>T (p.Pro545Leu) c.539C>T (p.Pro180Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264101G>A | CA575356 | H6PD | c.1608G>A (p.Pro536=) c.1641G>A (p.Pro547=) c.1635G>A (p.Pro545=) c.540G>A (p.Pro180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264101G>C | CA416032078 | H6PD | c.1608G>C (p.Pro536=) c.1641G>C (p.Pro547=) c.1635G>C (p.Pro545=) c.540G>C (p.Pro180=) | |
1 | g.9264101G= | CA1143433576 | H6PD | c.1608G= (p.Pro536=) c.1641G= (p.Pro547=) c.1635G= (p.Pro545=) c.540G= (p.Pro180=) | |
1 | g.9264101G>T | CA416032077 | H6PD | c.1608G>T (p.Pro536=) c.1641G>T (p.Pro547=) c.1635G>T (p.Pro545=) c.540G>T (p.Pro180=) | |
1 | g.9264102G>A | CA338193397 | H6PD | c.1609G>A (p.Ala537Thr) c.1642G>A (p.Ala548Thr) c.1636G>A (p.Ala546Thr) c.541G>A (p.Ala181Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264102G>C | CA338193396 | H6PD | c.1609G>C (p.Ala537Pro) c.1642G>C (p.Ala548Pro) c.1636G>C (p.Ala546Pro) c.541G>C (p.Ala181Pro) | |
1 | g.9264102G= | CA1152693776 | H6PD | c.1609G= (p.Ala537=) c.1642G= (p.Ala548=) c.1636G= (p.Ala546=) c.541G= (p.Ala181=) | |
1 | g.9264102G>T | CA338193395 | H6PD | c.1609G>T (p.Ala537Ser) c.1642G>T (p.Ala548Ser) c.1636G>T (p.Ala546Ser) c.541G>T (p.Ala181Ser) | |
1 | g.9264102_9264106dup | CA2643115497 | H6PD | c.1609_1613dup (p.Met539ProfsTer27) c.1642_1646dup (p.Met550ProfsTer27) c.1636_1640dup (p.Met548ProfsTer27) c.541_545dup (p.Met183ProfsTer27) | gnomAD v4 |
1 | g.9264103C>A | CA338193398 | H6PD | c.1610C>A (p.Ala537Asp) c.1643C>A (p.Ala548Asp) c.1637C>A (p.Ala546Asp) c.542C>A (p.Ala181Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264103C= | CA1152693785 | H6PD | c.1610C= (p.Ala537=) c.1643C= (p.Ala548=) c.1637C= (p.Ala546=) c.542C= (p.Ala181=) | |
1 | g.9264103C>G | CA338193399 | H6PD | c.1610C>G (p.Ala537Gly) c.1643C>G (p.Ala548Gly) c.1637C>G (p.Ala546Gly) c.542C>G (p.Ala181Gly) | |
1 | g.9264103C>T | CA338193400 | H6PD | c.1610C>T (p.Ala537Val) c.1643C>T (p.Ala548Val) c.1637C>T (p.Ala546Val) c.542C>T (p.Ala181Val) | COSMIC |
1 | g.9264104C>A | CA416032082 | H6PD | c.1611C>A (p.Ala537=) c.1644C>A (p.Ala548=) c.1638C>A (p.Ala546=) c.543C>A (p.Ala181=) | |
1 | g.9264104C>G | CA416032083 | H6PD | c.1611C>G (p.Ala537=) c.1644C>G (p.Ala548=) c.1638C>G (p.Ala546=) c.543C>G (p.Ala181=) | |
1 | g.9264104C>T | CA416032084 | H6PD | c.1611C>T (p.Ala537=) c.1644C>T (p.Ala548=) c.1638C>T (p.Ala546=) c.543C>T (p.Ala181=) | |
1 | g.9264105C>A | CA338193401 | H6PD | c.1612C>A (p.Pro538Thr) c.1645C>A (p.Pro549Thr) c.1639C>A (p.Pro547Thr) c.544C>A (p.Pro182Thr) | |
1 | g.9264105C>G | CA338193402 | H6PD | c.1612C>G (p.Pro538Ala) c.1645C>G (p.Pro549Ala) c.1639C>G (p.Pro547Ala) c.544C>G (p.Pro182Ala) | |
1 | g.9264105C>T | CA338193403 | H6PD | c.1612C>T (p.Pro538Ser) c.1645C>T (p.Pro549Ser) c.1639C>T (p.Pro547Ser) c.544C>T (p.Pro182Ser) | |
1 | g.9264106C>A | CA338193404 | H6PD | c.1613C>A (p.Pro538Gln) c.1646C>A (p.Pro549Gln) c.1640C>A (p.Pro547Gln) c.545C>A (p.Pro182Gln) | |
1 | g.9264106C= | CA1152693794 | H6PD | c.1613C= (p.Pro538=) c.1646C= (p.Pro549=) c.1640C= (p.Pro547=) c.545C= (p.Pro182=) | |
1 | g.9264106C>G | CA575357 | H6PD | c.1613C>G (p.Pro538Arg) c.1646C>G (p.Pro549Arg) c.1640C>G (p.Pro547Arg) c.545C>G (p.Pro182Arg) | dbSNP ExAC gnomAD v2 |
1 | g.9264106C>T | CA338193405 | H6PD | c.1613C>T (p.Pro538Leu) c.1646C>T (p.Pro549Leu) c.1640C>T (p.Pro547Leu) c.545C>T (p.Pro182Leu) | gnomAD v4 |
1 | g.9264107A= | CA1152693801 | H6PD | c.1614A= (p.Pro538=) c.1647A= (p.Pro549=) c.1641A= (p.Pro547=) c.546A= (p.Pro182=) | |
1 | g.9264107A>C | CA416032089 | H6PD | c.1614A>C (p.Pro538=) c.1647A>C (p.Pro549=) c.1641A>C (p.Pro547=) c.546A>C (p.Pro182=) | |
1 | g.9264107A>G | CA575358 | H6PD | c.1614A>G (p.Pro538=) c.1647A>G (p.Pro549=) c.1641A>G (p.Pro547=) c.546A>G (p.Pro182=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264107A>T | CA416032090 | H6PD | c.1614A>T (p.Pro538=) c.1647A>T (p.Pro549=) c.1641A>T (p.Pro547=) c.546A>T (p.Pro182=) | |
1 | g.9264108A= | CA1141734414 | H6PD | c.1615A= (p.Met539=) c.1648A= (p.Met550=) c.1642A= (p.Met548=) c.547A= (p.Met183=) | |
1 | g.9264108A>C | CA17751156 | H6PD | c.1615A>C (p.Met539Leu) c.1648A>C (p.Met550Leu) c.1642A>C (p.Met548Leu) c.547A>C (p.Met183Leu) | dbSNP |
1 | g.9264108A>G | CA575359 | H6PD | c.1615A>G (p.Met539Val) c.1648A>G (p.Met550Val) c.1642A>G (p.Met548Val) c.547A>G (p.Met183Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264108A>T | CA338193406 | H6PD | c.1615A>T (p.Met539Leu) c.1648A>T (p.Met550Leu) c.1642A>T (p.Met548Leu) c.547A>T (p.Met183Leu) | |
1 | g.9264109T>A | CA338193407 | H6PD | c.1616T>A (p.Met539Lys) c.1649T>A (p.Met550Lys) c.1643T>A (p.Met548Lys) c.548T>A (p.Met183Lys) | |
1 | g.9264109T>C | CA338193408 | H6PD | c.1616T>C (p.Met539Thr) c.1649T>C (p.Met550Thr) c.1643T>C (p.Met548Thr) c.548T>C (p.Met183Thr) | gnomAD v4 |
1 | g.9264109T>G | CA338193409 | H6PD | c.1616T>G (p.Met539Arg) c.1649T>G (p.Met550Arg) c.1643T>G (p.Met548Arg) c.548T>G (p.Met183Arg) | |
1 | g.9264109_9264110delinsTG | CA1152693809 | H6PD | c.1616_1617delinsTG (p.Met539=) c.1649_1650delinsTG (p.Met550=) c.1643_1644delinsTG (p.Met548=) c.548_549delinsTG (p.Met183=) | |
1 | g.9264110del | CA575360 | H6PD | c.1617del (p.Met539IlefsTer25) c.1650del (p.Met550IlefsTer25) c.1644del (p.Met548IlefsTer25) c.549del (p.Met183IlefsTer25) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264110G>A | CA575361 | H6PD | c.1617G>A (p.Met539Ile) c.1650G>A (p.Met550Ile) c.1644G>A (p.Met548Ile) c.549G>A (p.Met183Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264110G>C | CA338193410 | H6PD | c.1617G>C (p.Met539Ile) c.1650G>C (p.Met550Ile) c.1644G>C (p.Met548Ile) c.549G>C (p.Met183Ile) | |
1 | g.9264110G= | CA1152693820 | H6PD | c.1617G= (p.Met539=) c.1650G= (p.Met550=) c.1644G= (p.Met548=) c.549G= (p.Met183=) | |
1 | g.9264110G>T | CA338193411 | H6PD | c.1617G>T (p.Met539Ile) c.1650G>T (p.Met550Ile) c.1644G>T (p.Met548Ile) c.549G>T (p.Met183Ile) | |
1 | g.9264111C>A | CA338193412 | H6PD | c.1618C>A (p.Pro540Thr) c.1651C>A (p.Pro551Thr) c.1645C>A (p.Pro549Thr) c.550C>A (p.Pro184Thr) | |
1 | g.9264111C>G | CA338193413 | H6PD | c.1618C>G (p.Pro540Ala) c.1651C>G (p.Pro551Ala) c.1645C>G (p.Pro549Ala) c.550C>G (p.Pro184Ala) | |
1 | g.9264111C>T | CA338193414 | H6PD | c.1618C>T (p.Pro540Ser) c.1651C>T (p.Pro551Ser) c.1645C>T (p.Pro549Ser) c.550C>T (p.Pro184Ser) | |
1 | g.9264112C>A | CA338193417 | H6PD | c.1619C>A (p.Pro540His) c.1652C>A (p.Pro551His) c.1646C>A (p.Pro549His) c.551C>A (p.Pro184His) | |
1 | g.9264112C>G | CA338193415 | H6PD | c.1619C>G (p.Pro540Arg) c.1652C>G (p.Pro551Arg) c.1646C>G (p.Pro549Arg) c.551C>G (p.Pro184Arg) | |
1 | g.9264112C>T | CA338193416 | H6PD | c.1619C>T (p.Pro540Leu) c.1652C>T (p.Pro551Leu) c.1646C>T (p.Pro549Leu) c.551C>T (p.Pro184Leu) | |
1 | g.9264113C>A | CA416032094 | H6PD | c.1620C>A (p.Pro540=) c.1653C>A (p.Pro551=) c.1647C>A (p.Pro549=) c.552C>A (p.Pro184=) | |
1 | g.9264113C>G | CA416032095 | H6PD | c.1620C>G (p.Pro540=) c.1653C>G (p.Pro551=) c.1647C>G (p.Pro549=) c.552C>G (p.Pro184=) | |
1 | g.9264113C>T | CA416032096 | H6PD | c.1620C>T (p.Pro540=) c.1653C>T (p.Pro551=) c.1647C>T (p.Pro549=) c.552C>T (p.Pro184=) | |
1 | g.9264113_9264114insTG | CA2838306152 | H6PD | c.1620_1621insTG (p.Ser541Ter) c.1653_1654insTG (p.Ser552Ter) c.1647_1648insTG (p.Ser550Ter) c.552_553insTG (p.Ser185Ter) | |
1 | g.9264114A= | CA1152693829 | H6PD | c.1621A= (p.Ser541=) c.1654A= (p.Ser552=) c.1648A= (p.Ser550=) c.553A= (p.Ser185=) | |
1 | g.9264114A>C | CA338193418 | H6PD | c.1621A>C (p.Ser541Arg) c.1654A>C (p.Ser552Arg) c.1648A>C (p.Ser550Arg) c.553A>C (p.Ser185Arg) | |
1 | g.9264114A>G | CA338193419 | H6PD | c.1621A>G (p.Ser541Gly) c.1654A>G (p.Ser552Gly) c.1648A>G (p.Ser550Gly) c.553A>G (p.Ser185Gly) | |
1 | g.9264114A>T | CA338193420 | H6PD | c.1621A>T (p.Ser541Cys) c.1654A>T (p.Ser552Cys) c.1648A>T (p.Ser550Cys) c.553A>T (p.Ser185Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264115G>A | CA338193421 | H6PD | c.1622G>A (p.Ser541Asn) c.1655G>A (p.Ser552Asn) c.1649G>A (p.Ser550Asn) c.554G>A (p.Ser185Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264115G>C | CA338193422 | H6PD | c.1622G>C (p.Ser541Thr) c.1655G>C (p.Ser552Thr) c.1649G>C (p.Ser550Thr) c.554G>C (p.Ser185Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264115G= | CA1152693846 | H6PD | c.1622G= (p.Ser541=) c.1655G= (p.Ser552=) c.1649G= (p.Ser550=) c.554G= (p.Ser185=) | |
1 | g.9264115G>T | CA338193423 | H6PD | c.1622G>T (p.Ser541Ile) c.1655G>T (p.Ser552Ile) c.1649G>T (p.Ser550Ile) c.554G>T (p.Ser185Ile) | |
1 | g.9264116del | CA2840119140 | H6PD | c.1623del (p.Ser541ArgfsTer23) c.1656del (p.Ser552ArgfsTer23) c.1650del (p.Ser550ArgfsTer23) c.555del (p.Ser185ArgfsTer23) | |
1 | g.9264116T>A | CA338193424 | H6PD | c.1623T>A (p.Ser541Arg) c.1656T>A (p.Ser552Arg) c.1650T>A (p.Ser550Arg) c.555T>A (p.Ser185Arg) | |
1 | g.9264116T>C | CA416032100 | H6PD | c.1623T>C (p.Ser541=) c.1656T>C (p.Ser552=) c.1650T>C (p.Ser550=) c.555T>C (p.Ser185=) | |
1 | g.9264116T>G | CA338193425 | H6PD | c.1623T>G (p.Ser541Arg) c.1656T>G (p.Ser552Arg) c.1650T>G (p.Ser550Arg) c.555T>G (p.Ser185Arg) | |
1 | g.9264117G>A | CA338193426 | H6PD | c.1624G>A (p.Asp542Asn) c.1657G>A (p.Asp553Asn) c.1651G>A (p.Asp551Asn) c.556G>A (p.Asp186Asn) | |
1 | g.9264117G>C | CA338193427 | H6PD | c.1624G>C (p.Asp542His) c.1657G>C (p.Asp553His) c.1651G>C (p.Asp551His) c.556G>C (p.Asp186His) | |
1 | g.9264117G>T | CA338193428 | H6PD | c.1624G>T (p.Asp542Tyr) c.1657G>T (p.Asp553Tyr) c.1651G>T (p.Asp551Tyr) c.556G>T (p.Asp186Tyr) | |
1 | g.9264118A= | CA1152693849 | H6PD | c.1625A= (p.Asp542=) c.1658A= (p.Asp553=) c.1652A= (p.Asp551=) c.557A= (p.Asp186=) | |
1 | g.9264118A>C | CA17751163 | H6PD | c.1625A>C (p.Asp542Ala) c.1658A>C (p.Asp553Ala) c.1652A>C (p.Asp551Ala) c.557A>C (p.Asp186Ala) | dbSNP |
1 | g.9264118A>G | CA338193430 | H6PD | c.1625A>G (p.Asp542Gly) c.1658A>G (p.Asp553Gly) c.1652A>G (p.Asp551Gly) c.557A>G (p.Asp186Gly) | |
1 | g.9264118A>T | CA338193429 | H6PD | c.1625A>T (p.Asp542Val) c.1658A>T (p.Asp553Val) c.1652A>T (p.Asp551Val) c.557A>T (p.Asp186Val) | |
1 | g.9264119C>A | CA338193431 | H6PD | c.1626C>A (p.Asp542Glu) c.1659C>A (p.Asp553Glu) c.1653C>A (p.Asp551Glu) c.558C>A (p.Asp186Glu) | |
1 | g.9264119C>G | CA338193432 | H6PD | c.1626C>G (p.Asp542Glu) c.1659C>G (p.Asp553Glu) c.1653C>G (p.Asp551Glu) c.558C>G (p.Asp186Glu) | |
1 | g.9264119C>T | CA416032104 | H6PD | c.1626C>T (p.Asp542=) c.1659C>T (p.Asp553=) c.1653C>T (p.Asp551=) c.558C>T (p.Asp186=) | |
1 | g.9264120T>A | CA338193433 | H6PD | c.1627T>A (p.Phe543Ile) c.1660T>A (p.Phe554Ile) c.1654T>A (p.Phe552Ile) c.559T>A (p.Phe187Ile) | gnomAD v4 |
1 | g.9264120T>C | CA338193434 | H6PD | c.1627T>C (p.Phe543Leu) c.1660T>C (p.Phe554Leu) c.1654T>C (p.Phe552Leu) c.559T>C (p.Phe187Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264120T>G | CA338193435 | H6PD | c.1627T>G (p.Phe543Val) c.1660T>G (p.Phe554Val) c.1654T>G (p.Phe552Val) c.559T>G (p.Phe187Val) | |
1 | g.9264120T= | CA1152693852 | H6PD | c.1627T= (p.Phe543=) c.1660T= (p.Phe554=) c.1654T= (p.Phe552=) c.559T= (p.Phe187=) | |
1 | g.9264121T>A | CA338193436 | H6PD | c.1628T>A (p.Phe543Tyr) c.1661T>A (p.Phe554Tyr) c.1655T>A (p.Phe552Tyr) c.560T>A (p.Phe187Tyr) | |
1 | g.9264121T>C | CA338193437 | H6PD | c.1628T>C (p.Phe543Ser) c.1661T>C (p.Phe554Ser) c.1655T>C (p.Phe552Ser) c.560T>C (p.Phe187Ser) | |
1 | g.9264121T>G | CA338193438 | H6PD | c.1628T>G (p.Phe543Cys) c.1661T>G (p.Phe554Cys) c.1655T>G (p.Phe552Cys) c.560T>G (p.Phe187Cys) | |
1 | g.9264122C>A | CA338193439 | H6PD | c.1629C>A (p.Phe543Leu) c.1662C>A (p.Phe554Leu) c.1656C>A (p.Phe552Leu) c.561C>A (p.Phe187Leu) | |
1 | g.9264122C>G | CA338193440 | H6PD | c.1629C>G (p.Phe543Leu) c.1662C>G (p.Phe554Leu) c.1656C>G (p.Phe552Leu) c.561C>G (p.Phe187Leu) | |
1 | g.9264122C>T | CA416032108 | H6PD | c.1629C>T (p.Phe543=) c.1662C>T (p.Phe554=) c.1656C>T (p.Phe552=) c.561C>T (p.Phe187=) | gnomAD v4 |
1 | g.9264123C>A | CA338193441 | H6PD | c.1630C>A (p.Gln544Lys) c.1663C>A (p.Gln555Lys) c.1657C>A (p.Gln553Lys) c.562C>A (p.Gln188Lys) | |
1 | g.9264123C>G | CA338193442 | H6PD | c.1630C>G (p.Gln544Glu) c.1663C>G (p.Gln555Glu) c.1657C>G (p.Gln553Glu) c.562C>G (p.Gln188Glu) | |
1 | g.9264123C>T | CA338193443 | H6PD | c.1630C>T (p.Gln544Ter) c.1663C>T (p.Gln555Ter) c.1657C>T (p.Gln553Ter) c.562C>T (p.Gln188Ter) | gnomAD v4 |
1 | g.9264124A= | CA1152693858 | H6PD | c.1631A= (p.Gln544=) c.1664A= (p.Gln555=) c.1658A= (p.Gln553=) c.563A= (p.Gln188=) | |
1 | g.9264124A>C | CA338193446 | H6PD | c.1631A>C (p.Gln544Pro) c.1664A>C (p.Gln555Pro) c.1658A>C (p.Gln553Pro) c.563A>C (p.Gln188Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264124A>G | CA338193445 | H6PD | c.1631A>G (p.Gln544Arg) c.1664A>G (p.Gln555Arg) c.1658A>G (p.Gln553Arg) c.563A>G (p.Gln188Arg) | |
1 | g.9264124A>T | CA338193444 | H6PD | c.1631A>T (p.Gln544Leu) c.1664A>T (p.Gln555Leu) c.1658A>T (p.Gln553Leu) c.563A>T (p.Gln188Leu) | |
1 | g.9264125G>A | CA575362 | H6PD | c.1632G>A (p.Gln544=) c.1665G>A (p.Gln555=) c.1659G>A (p.Gln553=) c.564G>A (p.Gln188=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264125G>C | CA338193447 | H6PD | c.1632G>C (p.Gln544His) c.1665G>C (p.Gln555His) c.1659G>C (p.Gln553His) c.564G>C (p.Gln188His) | |
1 | g.9264125G= | CA1149068233 | H6PD | c.1632G= (p.Gln544=) c.1665G= (p.Gln555=) c.1659G= (p.Gln553=) c.564G= (p.Gln188=) | |
1 | g.9264125G>T | CA338193448 | H6PD | c.1632G>T (p.Gln544His) c.1665G>T (p.Gln555His) c.1659G>T (p.Gln553His) c.564G>T (p.Gln188His) | |
1 | g.9264126G>A | CA338193449 | H6PD | c.1633G>A (p.Val545Ile) c.1666G>A (p.Val556Ile) c.1660G>A (p.Val554Ile) c.565G>A (p.Val189Ile) | |
1 | g.9264126G>C | CA338193450 | H6PD | c.1633G>C (p.Val545Leu) c.1666G>C (p.Val556Leu) c.1660G>C (p.Val554Leu) c.565G>C (p.Val189Leu) | |
1 | g.9264126G>T | CA338193451 | H6PD | c.1633G>T (p.Val545Phe) c.1666G>T (p.Val556Phe) c.1660G>T (p.Val554Phe) c.565G>T (p.Val189Phe) | |
1 | g.9264127T>A | CA338193452 | H6PD | c.1634T>A (p.Val545Asp) c.1667T>A (p.Val556Asp) c.1661T>A (p.Val554Asp) c.566T>A (p.Val189Asp) | |
1 | g.9264127T>C | CA575363 | H6PD | c.1634T>C (p.Val545Ala) c.1667T>C (p.Val556Ala) c.1661T>C (p.Val554Ala) c.566T>C (p.Val189Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264127T>G | CA338193453 | H6PD | c.1634T>G (p.Val545Gly) c.1667T>G (p.Val556Gly) c.1661T>G (p.Val554Gly) c.566T>G (p.Val189Gly) | |
1 | g.9264127T= | CA1143883542 | H6PD | c.1634T= (p.Val545=) c.1667T= (p.Val556=) c.1661T= (p.Val554=) c.566T= (p.Val189=) | |
1 | g.9264128C>A | CA416032112 | H6PD | c.1635C>A (p.Val545=) c.1668C>A (p.Val556=) c.1662C>A (p.Val554=) c.567C>A (p.Val189=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264128C= | CA1143537718 | H6PD | c.1635C= (p.Val545=) c.1668C= (p.Val556=) c.1662C= (p.Val554=) c.567C= (p.Val189=) | |
1 | g.9264128C>G | CA416032113 | H6PD | c.1635C>G (p.Val545=) c.1668C>G (p.Val556=) c.1662C>G (p.Val554=) c.567C>G (p.Val189=) | |
1 | g.9264128C>T | CA17751166 | H6PD | c.1635C>T (p.Val545=) c.1668C>T (p.Val556=) c.1662C>T (p.Val554=) c.567C>T (p.Val189=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264128_9264129delinsTT | CA645511899 | H6PD | c.1635_1636delinsTT (p.Leu546Phe) c.1668_1669delinsTT (p.Leu557Phe) c.1662_1663delinsTT (p.Leu555Phe) c.567_568delinsTT (p.Leu190Phe) | COSMIC |
1 | g.9264128_9264129insA | CA2838977079 | H6PD | c.1635_1636insA (p.Leu546ThrfsTer21) c.1668_1669insA (p.Leu557ThrfsTer21) c.1662_1663insA (p.Leu555ThrfsTer21) c.567_568insA (p.Leu190ThrfsTer21) | |
1 | g.9264129C>A | CA338193454 | H6PD | c.1636C>A (p.Leu546Ile) c.1669C>A (p.Leu557Ile) c.1663C>A (p.Leu555Ile) c.568C>A (p.Leu190Ile) | |
1 | g.9264129C>G | CA338193455 | H6PD | c.1636C>G (p.Leu546Val) c.1669C>G (p.Leu557Val) c.1663C>G (p.Leu555Val) c.568C>G (p.Leu190Val) | |
1 | g.9264129C>T | CA338193456 | H6PD | c.1636C>T (p.Leu546Phe) c.1669C>T (p.Leu557Phe) c.1663C>T (p.Leu555Phe) c.568C>T (p.Leu190Phe) | |
1 | g.9264130T>A | CA338193457 | H6PD | c.1637T>A (p.Leu546His) c.1670T>A (p.Leu557His) c.1664T>A (p.Leu555His) c.569T>A (p.Leu190His) | |
1 | g.9264130T>C | CA338193459 | H6PD | c.1637T>C (p.Leu546Pro) c.1670T>C (p.Leu557Pro) c.1664T>C (p.Leu555Pro) c.569T>C (p.Leu190Pro) | |
1 | g.9264130T>G | CA338193458 | H6PD | c.1637T>G (p.Leu546Arg) c.1670T>G (p.Leu557Arg) c.1664T>G (p.Leu555Arg) c.569T>G (p.Leu190Arg) | |
1 | g.9264130_9264131insGGG | CA2840119145 | H6PD | c.1637_1638insGGG (p.Leu546_Arg547insGly) c.1670_1671insGGG (p.Leu557_Arg558insGly) c.1664_1665insGGG (p.Leu555_Arg556insGly) c.569_570insGGG (p.Leu190_Arg191insGly) | |
1 | g.9264131C>A | CA416031256 | H6PD | c.1638C>A (p.Leu546=) c.1671C>A (p.Leu557=) c.1665C>A (p.Leu555=) c.570C>A (p.Leu190=) | |
1 | g.9264131C>G | CA416031260 | H6PD | c.1638C>G (p.Leu546=) c.1671C>G (p.Leu557=) c.1665C>G (p.Leu555=) c.570C>G (p.Leu190=) | |
1 | g.9264131C>T | CA416031262 | H6PD | c.1638C>T (p.Leu546=) c.1671C>T (p.Leu557=) c.1665C>T (p.Leu555=) c.570C>T (p.Leu190=) | |
1 | g.9264132A>C | CA416031263 | H6PD | c.1639A>C (p.Arg547=) c.1672A>C (p.Arg558=) c.1666A>C (p.Arg556=) c.571A>C (p.Arg191=) | |
1 | g.9264132A>G | CA338193460 | H6PD | c.1639A>G (p.Arg547Gly) c.1672A>G (p.Arg558Gly) c.1666A>G (p.Arg556Gly) c.571A>G (p.Arg191Gly) | |
1 | g.9264132A>T | CA338193461 | H6PD | c.1639A>T (p.Arg547Trp) c.1672A>T (p.Arg558Trp) c.1666A>T (p.Arg556Trp) c.571A>T (p.Arg191Trp) | |
1 | g.9264132_9264133insTTG | CA2840119146 | H6PD | c.1639_1640insTTG (p.Arg547delinsIleGly) c.1672_1673insTTG (p.Arg558delinsIleGly) c.1666_1667insTTG (p.Arg556delinsIleGly) c.571_572insTTG (p.Arg191delinsIleGly) | |
1 | g.9264133G>A | CA575364 | H6PD | c.1640G>A (p.Arg547Lys) c.1673G>A (p.Arg558Lys) c.1667G>A (p.Arg556Lys) c.572G>A (p.Arg191Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264133G>C | CA338193462 | H6PD | c.1640G>C (p.Arg547Thr) c.1673G>C (p.Arg558Thr) c.1667G>C (p.Arg556Thr) c.572G>C (p.Arg191Thr) | |
1 | g.9264133G= | CA1152693876 | H6PD | c.1640G= (p.Arg547=) c.1673G= (p.Arg558=) c.1667G= (p.Arg556=) c.572G= (p.Arg191=) | |
1 | g.9264133G>T | CA338193463 | H6PD | c.1640G>T (p.Arg547Met) c.1673G>T (p.Arg558Met) c.1667G>T (p.Arg556Met) c.572G>T (p.Arg191Met) | |
1 | g.9264135del | CA2574201609 | H6PD | c.1642del (p.Ala548ProfsTer16) c.1675del (p.Ala559ProfsTer16) c.1669del (p.Ala557ProfsTer16) c.574del (p.Ala192ProfsTer16) | gnomAD v4 |
1 | g.9264134G>A | CA575365 | H6PD | c.1641G>A (p.Arg547=) c.1674G>A (p.Arg558=) c.1668G>A (p.Arg556=) c.573G>A (p.Arg191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264134G>C | CA338193464 | H6PD | c.1641G>C (p.Arg547Ser) c.1674G>C (p.Arg558Ser) c.1668G>C (p.Arg556Ser) c.573G>C (p.Arg191Ser) | |
1 | g.9264134G= | CA1147627724 | H6PD | c.1641G= (p.Arg547=) c.1674G= (p.Arg558=) c.1668G= (p.Arg556=) c.573G= (p.Arg191=) | |
1 | g.9264134G>T | CA338193465 | H6PD | c.1641G>T (p.Arg547Ser) c.1674G>T (p.Arg558Ser) c.1668G>T (p.Arg556Ser) c.573G>T (p.Arg191Ser) | |
1 | g.9264135G>A | CA338193466 | H6PD | c.1642G>A (p.Ala548Thr) c.1675G>A (p.Ala559Thr) c.1669G>A (p.Ala557Thr) c.574G>A (p.Ala192Thr) | dbSNP gnomAD v2 |
1 | g.9264135G>C | CA338193467 | H6PD | c.1642G>C (p.Ala548Pro) c.1675G>C (p.Ala559Pro) c.1669G>C (p.Ala557Pro) c.574G>C (p.Ala192Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264135G= | CA1152693886 | H6PD | c.1642G= (p.Ala548=) c.1675G= (p.Ala559=) c.1669G= (p.Ala557=) c.574G= (p.Ala192=) | |
1 | g.9264135G>T | CA575366 | H6PD | c.1642G>T (p.Ala548Ser) c.1675G>T (p.Ala559Ser) c.1669G>T (p.Ala557Ser) c.574G>T (p.Ala192Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264136C>A | CA338193468 | H6PD | c.1643C>A (p.Ala548Asp) c.1676C>A (p.Ala559Asp) c.1670C>A (p.Ala557Asp) c.575C>A (p.Ala192Asp) | |
1 | g.9264136C= | CA1152693896 | H6PD | c.1643C= (p.Ala548=) c.1676C= (p.Ala559=) c.1670C= (p.Ala557=) c.575C= (p.Ala192=) | |
1 | g.9264136C>G | CA338193469 | H6PD | c.1643C>G (p.Ala548Gly) c.1676C>G (p.Ala559Gly) c.1670C>G (p.Ala557Gly) c.575C>G (p.Ala192Gly) | |
1 | g.9264136C>T | CA338193470 | H6PD | c.1643C>T (p.Ala548Val) c.1676C>T (p.Ala559Val) c.1670C>T (p.Ala557Val) c.575C>T (p.Ala192Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264137C>A | CA416031272 | H6PD | c.1644C>A (p.Ala548=) c.1677C>A (p.Ala559=) c.1671C>A (p.Ala557=) c.576C>A (p.Ala192=) | |
1 | g.9264137C>G | CA416031273 | H6PD | c.1644C>G (p.Ala548=) c.1677C>G (p.Ala559=) c.1671C>G (p.Ala557=) c.576C>G (p.Ala192=) | |
1 | g.9264137C>T | CA416031274 | H6PD | c.1644C>T (p.Ala548=) c.1677C>T (p.Ala559=) c.1671C>T (p.Ala557=) c.576C>T (p.Ala192=) | |
1 | g.9264138A>C | CA338193472 | H6PD | c.1645A>C (p.Lys549Gln) c.1678A>C (p.Lys560Gln) c.1672A>C (p.Lys558Gln) c.577A>C (p.Lys193Gln) | |
1 | g.9264138A>G | CA338193473 | H6PD | c.1645A>G (p.Lys549Glu) c.1678A>G (p.Lys560Glu) c.1672A>G (p.Lys558Glu) c.577A>G (p.Lys193Glu) | gnomAD v4 |
1 | g.9264138A>T | CA338193471 | H6PD | c.1645A>T (p.Lys549Ter) c.1678A>T (p.Lys560Ter) c.1672A>T (p.Lys558Ter) c.577A>T (p.Lys193Ter) | |
1 | g.9264139A= | CA1152693902 | H6PD | c.1646A= (p.Lys549=) c.1679A= (p.Lys560=) c.1673A= (p.Lys558=) c.578A= (p.Lys193=) | |
1 | g.9264139A>C | CA338193474 | H6PD | c.1646A>C (p.Lys549Thr) c.1679A>C (p.Lys560Thr) c.1673A>C (p.Lys558Thr) c.578A>C (p.Lys193Thr) | |
1 | g.9264139A>G | CA338193475 | H6PD | c.1646A>G (p.Lys549Arg) c.1679A>G (p.Lys560Arg) c.1673A>G (p.Lys558Arg) c.578A>G (p.Lys193Arg) | |
1 | g.9264139A>T | CA338193476 | H6PD | c.1646A>T (p.Lys549Met) c.1679A>T (p.Lys560Met) c.1673A>T (p.Lys558Met) c.578A>T (p.Lys193Met) | dbSNP |
1 | g.9264140G>A | CA416031277 | H6PD | c.1647G>A (p.Lys549=) c.1680G>A (p.Lys560=) c.1674G>A (p.Lys558=) c.579G>A (p.Lys193=) | |
1 | g.9264140G>C | CA338193477 | H6PD | c.1647G>C (p.Lys549Asn) c.1680G>C (p.Lys560Asn) c.1674G>C (p.Lys558Asn) c.579G>C (p.Lys193Asn) | |
1 | g.9264140G>T | CA338193478 | H6PD | c.1647G>T (p.Lys549Asn) c.1680G>T (p.Lys560Asn) c.1674G>T (p.Lys558Asn) c.579G>T (p.Lys193Asn) | |
1 | g.9264141T>A | CA338193481 | H6PD | c.1648T>A (p.Tyr550Asn) c.1681T>A (p.Tyr561Asn) c.1675T>A (p.Tyr559Asn) c.580T>A (p.Tyr194Asn) | |
1 | g.9264141T>C | CA338193479 | H6PD | c.1648T>C (p.Tyr550His) c.1681T>C (p.Tyr561His) c.1675T>C (p.Tyr559His) c.580T>C (p.Tyr194His) | |
1 | g.9264141T>G | CA338193480 | H6PD | c.1648T>G (p.Tyr550Asp) c.1681T>G (p.Tyr561Asp) c.1675T>G (p.Tyr559Asp) c.580T>G (p.Tyr194Asp) | |
1 | g.9264142A>C | CA338193482 | H6PD | c.1649A>C (p.Tyr550Ser) c.1682A>C (p.Tyr561Ser) c.1676A>C (p.Tyr559Ser) c.581A>C (p.Tyr194Ser) | |
1 | g.9264142A>G | CA338193483 | H6PD | c.1649A>G (p.Tyr550Cys) c.1682A>G (p.Tyr561Cys) c.1676A>G (p.Tyr559Cys) c.581A>G (p.Tyr194Cys) | |
1 | g.9264142A>T | CA338193484 | H6PD | c.1649A>T (p.Tyr550Phe) c.1682A>T (p.Tyr561Phe) c.1676A>T (p.Tyr559Phe) c.581A>T (p.Tyr194Phe) | gnomAD v4 |
1 | g.9264143C>A | CA338193485 | H6PD | c.1650C>A (p.Tyr550Ter) c.1683C>A (p.Tyr561Ter) c.1677C>A (p.Tyr559Ter) c.582C>A (p.Tyr194Ter) | |
1 | g.9264143C= | CA1152693907 | H6PD | c.1650C= (p.Tyr550=) c.1683C= (p.Tyr561=) c.1677C= (p.Tyr559=) c.582C= (p.Tyr194=) | |
1 | g.9264143C>G | CA338193486 | H6PD | c.1650C>G (p.Tyr550Ter) c.1683C>G (p.Tyr561Ter) c.1677C>G (p.Tyr559Ter) c.582C>G (p.Tyr194Ter) | |
1 | g.9264143C>T | CA575367 | H6PD | c.1650C>T (p.Tyr550=) c.1683C>T (p.Tyr561=) c.1677C>T (p.Tyr559=) c.582C>T (p.Tyr194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264144C>A | CA17751188 | H6PD | c.1651C>A (p.Arg551=) c.1684C>A (p.Arg562=) c.1678C>A (p.Arg560=) c.583C>A (p.Arg195=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264144C= | CA1152693914 | H6PD | c.1651C= (p.Arg551=) c.1684C= (p.Arg562=) c.1678C= (p.Arg560=) c.583C= (p.Arg195=) | |
1 | g.9264144C>G | CA338193487 | H6PD | c.1651C>G (p.Arg551Gly) c.1684C>G (p.Arg562Gly) c.1678C>G (p.Arg560Gly) c.583C>G (p.Arg195Gly) | |
1 | g.9264144C>T | CA575368 | H6PD | c.1651C>T (p.Arg551Ter) c.1684C>T (p.Arg562Ter) c.1678C>T (p.Arg560Ter) c.583C>T (p.Arg195Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264145G>A | CA575369 | H6PD | c.1652G>A (p.Arg551Gln) c.1685G>A (p.Arg562Gln) c.1679G>A (p.Arg560Gln) c.584G>A (p.Arg195Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264145G>C | CA338193488 | H6PD | c.1652G>C (p.Arg551Pro) c.1685G>C (p.Arg562Pro) c.1679G>C (p.Arg560Pro) c.584G>C (p.Arg195Pro) | |
1 | g.9264145G= | CA1144174956 | H6PD | c.1652G= (p.Arg551=) c.1685G= (p.Arg562=) c.1679G= (p.Arg560=) c.584G= (p.Arg195=) | |
1 | g.9264145G>T | CA338193489 | H6PD | c.1652G>T (p.Arg551Leu) c.1685G>T (p.Arg562Leu) c.1679G>T (p.Arg560Leu) c.584G>T (p.Arg195Leu) | |
1 | g.9264150_9264151del | CA2695348717 | H6PD | c.1657_1658del (p.Ser553ProfsTer13) c.1690_1691del (p.Ser564ProfsTer13) c.1684_1685del (p.Ser562ProfsTer13) c.589_590del (p.Ser197ProfsTer13) | dbSNP |
1 | g.9264146A= | CA1152693919 | H6PD | c.1653A= (p.Arg551=) c.1686A= (p.Arg562=) c.1680A= (p.Arg560=) c.585A= (p.Arg195=) | |
1 | g.9264146A>C | CA416031298 | H6PD | c.1653A>C (p.Arg551=) c.1686A>C (p.Arg562=) c.1680A>C (p.Arg560=) c.585A>C (p.Arg195=) | |
1 | g.9264146A>G | CA575370 | H6PD | c.1653A>G (p.Arg551=) c.1686A>G (p.Arg562=) c.1680A>G (p.Arg560=) c.585A>G (p.Arg195=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264146A>T | CA416031294 | H6PD | c.1653A>T (p.Arg551=) c.1686A>T (p.Arg562=) c.1680A>T (p.Arg560=) c.585A>T (p.Arg195=) | |
1 | g.9264147G>A | CA338193490 | H6PD | c.1654G>A (p.Glu552Lys) c.1687G>A (p.Glu563Lys) c.1681G>A (p.Glu561Lys) c.586G>A (p.Glu196Lys) | dbSNP gnomAD v4 |
1 | g.9264147G>C | CA338193491 | H6PD | c.1654G>C (p.Glu552Gln) c.1687G>C (p.Glu563Gln) c.1681G>C (p.Glu561Gln) c.586G>C (p.Glu196Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264147G= | CA1152693923 | H6PD | c.1654G= (p.Glu552=) c.1687G= (p.Glu563=) c.1681G= (p.Glu561=) c.586G= (p.Glu196=) | |
1 | g.9264147G>T | CA338193492 | H6PD | c.1654G>T (p.Glu552Ter) c.1687G>T (p.Glu563Ter) c.1681G>T (p.Glu561Ter) c.586G>T (p.Glu196Ter) | |
1 | g.9264148A>C | CA338193495 | H6PD | c.1655A>C (p.Glu552Ala) c.1688A>C (p.Glu563Ala) c.1682A>C (p.Glu561Ala) c.587A>C (p.Glu196Ala) | |
1 | g.9264148A>G | CA338193493 | H6PD | c.1655A>G (p.Glu552Gly) c.1688A>G (p.Glu563Gly) c.1682A>G (p.Glu561Gly) c.587A>G (p.Glu196Gly) | ClinVar gnomAD v4 |
1 | g.9264148A>T | CA338193494 | H6PD | c.1655A>T (p.Glu552Val) c.1688A>T (p.Glu563Val) c.1682A>T (p.Glu561Val) c.587A>T (p.Glu196Val) | |
1 | g.9264149G>A | CA416031308 | H6PD | c.1656G>A (p.Glu552=) c.1689G>A (p.Glu563=) c.1683G>A (p.Glu561=) c.588G>A (p.Glu196=) | |
1 | g.9264149G>C | CA338193496 | H6PD | c.1656G>C (p.Glu552Asp) c.1689G>C (p.Glu563Asp) c.1683G>C (p.Glu561Asp) c.588G>C (p.Glu196Asp) | gnomAD v4 |
1 | g.9264149G>T | CA338193497 | H6PD | c.1656G>T (p.Glu552Asp) c.1689G>T (p.Glu563Asp) c.1683G>T (p.Glu561Asp) c.588G>T (p.Glu196Asp) | |
1 | g.9264150A>C | CA338193498 | H6PD | c.1657A>C (p.Ser553Arg) c.1690A>C (p.Ser564Arg) c.1684A>C (p.Ser562Arg) c.589A>C (p.Ser197Arg) | gnomAD v4 |
1 | g.9264150A>G | CA338193499 | H6PD | c.1657A>G (p.Ser553Gly) c.1690A>G (p.Ser564Gly) c.1684A>G (p.Ser562Gly) c.589A>G (p.Ser197Gly) | |
1 | g.9264150A>T | CA338193500 | H6PD | c.1657A>T (p.Ser553Cys) c.1690A>T (p.Ser564Cys) c.1684A>T (p.Ser562Cys) c.589A>T (p.Ser197Cys) | |
1 | g.9264151G>A | CA575371 | H6PD | c.1658G>A (p.Ser553Asn) c.1691G>A (p.Ser564Asn) c.1685G>A (p.Ser562Asn) c.590G>A (p.Ser197Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264151G>C | CA338193502 | H6PD | c.1658G>C (p.Ser553Thr) c.1691G>C (p.Ser564Thr) c.1685G>C (p.Ser562Thr) c.590G>C (p.Ser197Thr) | dbSNP |
1 | g.9264151G= | CA1152693930 | H6PD | c.1658G= (p.Ser553=) c.1691G= (p.Ser564=) c.1685G= (p.Ser562=) c.590G= (p.Ser197=) | |
1 | g.9264151G>T | CA338193501 | H6PD | c.1658G>T (p.Ser553Ile) c.1691G>T (p.Ser564Ile) c.1685G>T (p.Ser562Ile) c.590G>T (p.Ser197Ile) | gnomAD v4 |
1 | g.9264152C>A | CA338193503 | H6PD | c.1659C>A (p.Ser553Arg) c.1692C>A (p.Ser564Arg) c.1686C>A (p.Ser562Arg) c.591C>A (p.Ser197Arg) | |
1 | g.9264152C>G | CA338193504 | H6PD | c.1659C>G (p.Ser553Arg) c.1692C>G (p.Ser564Arg) c.1686C>G (p.Ser562Arg) c.591C>G (p.Ser197Arg) | |
1 | g.9264152C>T | CA416031326 | H6PD | c.1659C>T (p.Ser553=) c.1692C>T (p.Ser564=) c.1686C>T (p.Ser562=) c.591C>T (p.Ser197=) | gnomAD v4 |
1 | g.9264154del | CA2840119148 | H6PD | c.1661del (p.Pro554ArgfsTer10) c.1694del (p.Pro565ArgfsTer10) c.1688del (p.Pro563ArgfsTer10) c.593del (p.Pro198ArgfsTer10) | |
1 | g.9264153_9264154del | CA2840119147 | H6PD | c.1660_1661del (p.Pro554AlafsTer12) c.1693_1694del (p.Pro565AlafsTer12) c.1687_1688del (p.Pro563AlafsTer12) c.592_593del (p.Pro198AlafsTer12) | |
1 | g.9264153C>A | CA338193505 | H6PD | c.1660C>A (p.Pro554Thr) c.1693C>A (p.Pro565Thr) c.1687C>A (p.Pro563Thr) c.592C>A (p.Pro198Thr) | |
1 | g.9264153C>G | CA338193506 | H6PD | c.1660C>G (p.Pro554Ala) c.1693C>G (p.Pro565Ala) c.1687C>G (p.Pro563Ala) c.592C>G (p.Pro198Ala) | |
1 | g.9264153C>T | CA338193507 | H6PD | c.1660C>T (p.Pro554Ser) c.1693C>T (p.Pro565Ser) c.1687C>T (p.Pro563Ser) c.592C>T (p.Pro198Ser) | |
1 | g.9264154C>A | CA575373 | H6PD | c.1661C>A (p.Pro554Gln) c.1694C>A (p.Pro565Gln) c.1688C>A (p.Pro563Gln) c.593C>A (p.Pro198Gln) | dbSNP ExAC |
1 | g.9264154C= | CA1140467451 | H6PD | c.1661C= (p.Pro554=) c.1694C= (p.Pro565=) c.1688C= (p.Pro563=) c.593C= (p.Pro198=) | |
1 | g.9264154C>G | CA338193508 | H6PD | c.1661C>G (p.Pro554Arg) c.1694C>G (p.Pro565Arg) c.1688C>G (p.Pro563Arg) c.593C>G (p.Pro198Arg) | |
1 | g.9264154C>T | CA575372 | H6PD | c.1661C>T (p.Pro554Leu) c.1694C>T (p.Pro565Leu) c.1688C>T (p.Pro563Leu) c.593C>T (p.Pro198Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264155G>A | CA575374 | H6PD | c.1662G>A (p.Pro554=) c.1695G>A (p.Pro565=) c.1689G>A (p.Pro563=) c.594G>A (p.Pro198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.9264155G>C | CA416031333 | H6PD | c.1662G>C (p.Pro554=) c.1695G>C (p.Pro565=) c.1689G>C (p.Pro563=) c.594G>C (p.Pro198=) | |
1 | g.9264155G= | CA1143662191 | H6PD | c.1662G= (p.Pro554=) c.1695G= (p.Pro565=) c.1689G= (p.Pro563=) c.594G= (p.Pro198=) | |
1 | g.9264155G>T | CA416031334 | H6PD | c.1662G>T (p.Pro554=) c.1695G>T (p.Pro565=) c.1689G>T (p.Pro563=) c.594G>T (p.Pro198=) |