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.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=) |