Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.9264165G>A | CA575376 | H6PD | c.1672G>A (p.Ala558Thr) c.1705G>A (p.Ala569Thr) c.1699G>A (p.Ala567Thr) c.604G>A (p.Ala202Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264165G>C | CA338193526 | H6PD | c.1672G>C (p.Ala558Pro) c.1705G>C (p.Ala569Pro) c.1699G>C (p.Ala567Pro) c.604G>C (p.Ala202Pro) | |
1 | g.9264165G= | CA1146784447 | H6PD | c.1672G= (p.Ala558=) c.1705G= (p.Ala569=) c.1699G= (p.Ala567=) c.604G= (p.Ala202=) | |
1 | g.9264165G>T | CA338193527 | H6PD | c.1672G>T (p.Ala558Ser) c.1705G>T (p.Ala569Ser) c.1699G>T (p.Ala567Ser) c.604G>T (p.Ala202Ser) | gnomAD v4 |
1 | g.9264166C>A | CA338193528 | H6PD | c.1673C>A (p.Ala558Asp) c.1706C>A (p.Ala569Asp) c.1700C>A (p.Ala567Asp) c.605C>A (p.Ala202Asp) | |
1 | g.9264166C>G | CA338193530 | H6PD | c.1673C>G (p.Ala558Gly) c.1706C>G (p.Ala569Gly) c.1700C>G (p.Ala567Gly) c.605C>G (p.Ala202Gly) | |
1 | g.9264166C>T | CA338193529 | H6PD | c.1673C>T (p.Ala558Val) c.1706C>T (p.Ala569Val) c.1700C>T (p.Ala567Val) c.605C>T (p.Ala202Val) | |
1 | g.9264167C>A | CA416031385 | H6PD | c.1674C>A (p.Ala558=) c.1707C>A (p.Ala569=) c.1701C>A (p.Ala567=) c.606C>A (p.Ala202=) | |
1 | g.9264167C= | CA1152693968 | H6PD | c.1674C= (p.Ala558=) c.1707C= (p.Ala569=) c.1701C= (p.Ala567=) c.606C= (p.Ala202=) | |
1 | g.9264167C>G | CA416031387 | H6PD | c.1674C>G (p.Ala558=) c.1707C>G (p.Ala569=) c.1701C>G (p.Ala567=) c.606C>G (p.Ala202=) | |
1 | g.9264167C>T | CA416031388 | H6PD | c.1674C>T (p.Ala558=) c.1707C>T (p.Ala569=) c.1701C>T (p.Ala567=) c.606C>T (p.Ala202=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264168T>A | CA338193531 | H6PD | c.1675T>A (p.Trp559Arg) c.1708T>A (p.Trp570Arg) c.1702T>A (p.Trp568Arg) c.607T>A (p.Trp203Arg) | |
1 | g.9264168T>C | CA338193532 | H6PD | c.1675T>C (p.Trp559Arg) c.1708T>C (p.Trp570Arg) c.1702T>C (p.Trp568Arg) c.607T>C (p.Trp203Arg) | dbSNP gnomAD v4 |
1 | g.9264168T>G | CA338193533 | H6PD | c.1675T>G (p.Trp559Gly) c.1708T>G (p.Trp570Gly) c.1702T>G (p.Trp568Gly) c.607T>G (p.Trp203Gly) | |
1 | g.9264168T= | CA1152693978 | H6PD | c.1675T= (p.Trp559=) c.1708T= (p.Trp570=) c.1702T= (p.Trp568=) c.607T= (p.Trp203=) | |
1 | g.9264169G>A | CA575377 | H6PD | c.1676G>A (p.Trp559Ter) c.1709G>A (p.Trp570Ter) c.1703G>A (p.Trp568Ter) c.608G>A (p.Trp203Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264169G>C | CA338193534 | H6PD | c.1676G>C (p.Trp559Ser) c.1709G>C (p.Trp570Ser) c.1703G>C (p.Trp568Ser) c.608G>C (p.Trp203Ser) | gnomAD v4 |
1 | g.9264169G= | CA1152693982 | H6PD | c.1676G= (p.Trp559=) c.1709G= (p.Trp570=) c.1703G= (p.Trp568=) c.608G= (p.Trp203=) | |
1 | g.9264169G>T | CA338193535 | H6PD | c.1676G>T (p.Trp559Leu) c.1709G>T (p.Trp570Leu) c.1703G>T (p.Trp568Leu) c.608G>T (p.Trp203Leu) | gnomAD v4 |
1 | g.9264170G>A | CA338193536 | H6PD | c.1677G>A (p.Trp559Ter) c.1710G>A (p.Trp570Ter) c.1704G>A (p.Trp568Ter) c.609G>A (p.Trp203Ter) | |
1 | g.9264170G>C | CA338193537 | H6PD | c.1677G>C (p.Trp559Cys) c.1710G>C (p.Trp570Cys) c.1704G>C (p.Trp568Cys) c.609G>C (p.Trp203Cys) | |
1 | g.9264170G>T | CA338193538 | H6PD | c.1677G>T (p.Trp559Cys) c.1710G>T (p.Trp570Cys) c.1704G>T (p.Trp568Cys) c.609G>T (p.Trp203Cys) | |
1 | g.9264171T>A | CA338193541 | H6PD | c.1678T>A (p.Ser560Thr) c.1711T>A (p.Ser571Thr) c.1705T>A (p.Ser569Thr) c.610T>A (p.Ser204Thr) | |
1 | g.9264171T>C | CA338193540 | H6PD | c.1678T>C (p.Ser560Pro) c.1711T>C (p.Ser571Pro) c.1705T>C (p.Ser569Pro) c.610T>C (p.Ser204Pro) | gnomAD v3 gnomAD v4 |
1 | g.9264171T>G | CA338193539 | H6PD | c.1678T>G (p.Ser560Ala) c.1711T>G (p.Ser571Ala) c.1705T>G (p.Ser569Ala) c.610T>G (p.Ser204Ala) | |
1 | g.9264172C>A | CA338193542 | H6PD | c.1679C>A (p.Ser560Tyr) c.1712C>A (p.Ser571Tyr) c.1706C>A (p.Ser569Tyr) c.611C>A (p.Ser204Tyr) | |
1 | g.9264172C= | CA1152693991 | H6PD | c.1679C= (p.Ser560=) c.1712C= (p.Ser571=) c.1706C= (p.Ser569=) c.611C= (p.Ser204=) | |
1 | g.9264172C>G | CA338193543 | H6PD | c.1679C>G (p.Ser560Cys) c.1712C>G (p.Ser571Cys) c.1706C>G (p.Ser569Cys) c.611C>G (p.Ser204Cys) | |
1 | g.9264172C>T | CA338193544 | H6PD | c.1679C>T (p.Ser560Phe) c.1712C>T (p.Ser571Phe) c.1706C>T (p.Ser569Phe) c.611C>T (p.Ser204Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264173C>A | CA416031400 | H6PD | c.1680C>A (p.Ser560=) c.1713C>A (p.Ser571=) c.1707C>A (p.Ser569=) c.612C>A (p.Ser204=) | |
1 | g.9264173C= | CA1143902317 | H6PD | c.1680C= (p.Ser560=) c.1713C= (p.Ser571=) c.1707C= (p.Ser569=) c.612C= (p.Ser204=) | |
1 | g.9264173C>G | CA416031408 | H6PD | c.1680C>G (p.Ser560=) c.1713C>G (p.Ser571=) c.1707C>G (p.Ser569=) c.612C>G (p.Ser204=) | |
1 | g.9264173C>T | CA575378 | H6PD | c.1680C>T (p.Ser560=) c.1713C>T (p.Ser571=) c.1707C>T (p.Ser569=) c.612C>T (p.Ser204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264174G>A | CA575379 | H6PD | c.1681G>A (p.Glu561Lys) c.1714G>A (p.Glu572Lys) c.1708G>A (p.Glu570Lys) c.613G>A (p.Glu205Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264174G>C | CA338193545 | H6PD | c.1681G>C (p.Glu561Gln) c.1714G>C (p.Glu572Gln) c.1708G>C (p.Glu570Gln) c.613G>C (p.Glu205Gln) | gnomAD v4 |
1 | g.9264174G= | CA1142342024 | H6PD | c.1681G= (p.Glu561=) c.1714G= (p.Glu572=) c.1708G= (p.Glu570=) c.613G= (p.Glu205=) | |
1 | g.9264174G>T | CA338193546 | H6PD | c.1681G>T (p.Glu561Ter) c.1714G>T (p.Glu572Ter) c.1708G>T (p.Glu570Ter) c.613G>T (p.Glu205Ter) | COSMIC |
1 | g.9264175A>C | CA338193547 | H6PD | c.1682A>C (p.Glu561Ala) c.1715A>C (p.Glu572Ala) c.1709A>C (p.Glu570Ala) c.614A>C (p.Glu205Ala) | |
1 | g.9264175A>G | CA338193548 | H6PD | c.1682A>G (p.Glu561Gly) c.1715A>G (p.Glu572Gly) c.1709A>G (p.Glu570Gly) c.614A>G (p.Glu205Gly) | |
1 | g.9264175A>T | CA338193549 | H6PD | c.1682A>T (p.Glu561Val) c.1715A>T (p.Glu572Val) c.1709A>T (p.Glu570Val) c.614A>T (p.Glu205Val) | |
1 | g.9264176G>A | CA575380 | H6PD | c.1683G>A (p.Glu561=) c.1716G>A (p.Glu572=) c.1710G>A (p.Glu570=) c.615G>A (p.Glu205=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264176G>C | CA338193550 | H6PD | c.1683G>C (p.Glu561Asp) c.1716G>C (p.Glu572Asp) c.1710G>C (p.Glu570Asp) c.615G>C (p.Glu205Asp) | |
1 | g.9264176G= | CA1152694007 | H6PD | c.1683G= (p.Glu561=) c.1716G= (p.Glu572=) c.1710G= (p.Glu570=) c.615G= (p.Glu205=) | |
1 | g.9264176G>T | CA338193551 | H6PD | c.1683G>T (p.Glu561Asp) c.1716G>T (p.Glu572Asp) c.1710G>T (p.Glu570Asp) c.615G>T (p.Glu205Asp) | |
1 | g.9264177G>A | CA338193554 | H6PD | c.1684G>A (p.Glu562Lys) c.1717G>A (p.Glu573Lys) c.1711G>A (p.Glu571Lys) c.616G>A (p.Glu206Lys) | |
1 | g.9264177G>C | CA338193552 | H6PD | c.1684G>C (p.Glu562Gln) c.1717G>C (p.Glu573Gln) c.1711G>C (p.Glu571Gln) c.616G>C (p.Glu206Gln) | |
1 | g.9264177G>T | CA338193553 | H6PD | c.1684G>T (p.Glu562Ter) c.1717G>T (p.Glu573Ter) c.1711G>T (p.Glu571Ter) c.616G>T (p.Glu206Ter) | gnomAD v4 |
1 | g.9264178A>C | CA338193555 | H6PD | c.1685A>C (p.Glu562Ala) c.1718A>C (p.Glu573Ala) c.1712A>C (p.Glu571Ala) c.617A>C (p.Glu206Ala) | |
1 | g.9264178A>G | CA338193556 | H6PD | c.1685A>G (p.Glu562Gly) c.1718A>G (p.Glu573Gly) c.1712A>G (p.Glu571Gly) c.617A>G (p.Glu206Gly) | |
1 | g.9264178A>T | CA338193557 | H6PD | c.1685A>T (p.Glu562Val) c.1718A>T (p.Glu573Val) c.1712A>T (p.Glu571Val) c.617A>T (p.Glu206Val) | |
1 | g.9264179G>A | CA575381 | H6PD | c.1686G>A (p.Glu562=) c.1719G>A (p.Glu573=) c.1713G>A (p.Glu571=) c.618G>A (p.Glu206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264179G>C | CA338193558 | H6PD | c.1686G>C (p.Glu562Asp) c.1719G>C (p.Glu573Asp) c.1713G>C (p.Glu571Asp) c.618G>C (p.Glu206Asp) | |
1 | g.9264179G= | CA1152694013 | H6PD | c.1686G= (p.Glu562=) c.1719G= (p.Glu573=) c.1713G= (p.Glu571=) c.618G= (p.Glu206=) | |
1 | g.9264179G>T | CA338193559 | H6PD | c.1686G>T (p.Glu562Asp) c.1719G>T (p.Glu573Asp) c.1713G>T (p.Glu571Asp) c.618G>T (p.Glu206Asp) | |
1 | g.9264180C>A | CA338193560 | H6PD | c.1687C>A (p.Leu563Met) c.1720C>A (p.Leu574Met) c.1714C>A (p.Leu572Met) c.619C>A (p.Leu207Met) | |
1 | g.9264180C>G | CA338193561 | H6PD | c.1687C>G (p.Leu563Val) c.1720C>G (p.Leu574Val) c.1714C>G (p.Leu572Val) c.619C>G (p.Leu207Val) | |
1 | g.9264180C>T | CA416031421 | H6PD | c.1687C>T (p.Leu563=) c.1720C>T (p.Leu574=) c.1714C>T (p.Leu572=) c.619C>T (p.Leu207=) | |
1 | g.9264181T>A | CA338193562 | H6PD | c.1688T>A (p.Leu563Gln) c.1721T>A (p.Leu574Gln) c.1715T>A (p.Leu572Gln) c.620T>A (p.Leu207Gln) | |
1 | g.9264181T>C | CA338193563 | H6PD | c.1688T>C (p.Leu563Pro) c.1721T>C (p.Leu574Pro) c.1715T>C (p.Leu572Pro) c.620T>C (p.Leu207Pro) | gnomAD v4 |
1 | g.9264181T>G | CA338193564 | H6PD | c.1688T>G (p.Leu563Arg) c.1721T>G (p.Leu574Arg) c.1715T>G (p.Leu572Arg) c.620T>G (p.Leu207Arg) | |
1 | g.9264182G>A | CA416031429 | H6PD | c.1689G>A (p.Leu563=) c.1722G>A (p.Leu574=) c.1716G>A (p.Leu572=) c.621G>A (p.Leu207=) | |
1 | g.9264182G>C | CA416031430 | H6PD | c.1689G>C (p.Leu563=) c.1722G>C (p.Leu574=) c.1716G>C (p.Leu572=) c.621G>C (p.Leu207=) | |
1 | g.9264182G>T | CA416031431 | H6PD | c.1689G>T (p.Leu563=) c.1722G>T (p.Leu574=) c.1716G>T (p.Leu572=) c.621G>T (p.Leu207=) | |
1 | g.9264183A= | CA1152694017 | H6PD | c.1690A= (p.Ile564=) c.1723A= (p.Ile575=) c.1717A= (p.Ile573=) c.622A= (p.Ile208=) | |
1 | g.9264183A>C | CA338193565 | H6PD | c.1690A>C (p.Ile564Leu) c.1723A>C (p.Ile575Leu) c.1717A>C (p.Ile573Leu) c.622A>C (p.Ile208Leu) | |
1 | g.9264183A>G | CA338193567 | H6PD | c.1690A>G (p.Ile564Val) c.1723A>G (p.Ile575Val) c.1717A>G (p.Ile573Val) c.622A>G (p.Ile208Val) | dbSNP gnomAD v4 |
1 | g.9264183A>T | CA338193566 | H6PD | c.1690A>T (p.Ile564Phe) c.1723A>T (p.Ile575Phe) c.1717A>T (p.Ile573Phe) c.622A>T (p.Ile208Phe) | gnomAD v4 |
1 | g.9264184T>A | CA575382 | H6PD | c.1691T>A (p.Ile564Asn) c.1724T>A (p.Ile575Asn) c.1718T>A (p.Ile573Asn) c.623T>A (p.Ile208Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264184T>C | CA338193569 | H6PD | c.1691T>C (p.Ile564Thr) c.1724T>C (p.Ile575Thr) c.1718T>C (p.Ile573Thr) c.623T>C (p.Ile208Thr) | gnomAD v4 |
1 | g.9264184T>G | CA338193568 | H6PD | c.1691T>G (p.Ile564Ser) c.1724T>G (p.Ile575Ser) c.1718T>G (p.Ile573Ser) c.623T>G (p.Ile208Ser) | |
1 | g.9264184T= | CA1148450576 | H6PD | c.1691T= (p.Ile564=) c.1724T= (p.Ile575=) c.1718T= (p.Ile573=) c.623T= (p.Ile208=) | |
1 | g.9264185C>A | CA416031446 | H6PD | c.1692C>A (p.Ile564=) c.1725C>A (p.Ile575=) c.1719C>A (p.Ile573=) c.624C>A (p.Ile208=) | |
1 | g.9264185C= | CA1152694031 | H6PD | c.1692C= (p.Ile564=) c.1725C= (p.Ile575=) c.1719C= (p.Ile573=) c.624C= (p.Ile208=) | |
1 | g.9264185C>G | CA338193570 | H6PD | c.1692C>G (p.Ile564Met) c.1725C>G (p.Ile575Met) c.1719C>G (p.Ile573Met) c.624C>G (p.Ile208Met) | |
1 | g.9264185C>T | CA416031450 | H6PD | c.1692C>T (p.Ile564=) c.1725C>T (p.Ile575=) c.1719C>T (p.Ile573=) c.624C>T (p.Ile208=) | dbSNP gnomAD v4 |
1 | g.9264186T>A | CA338193572 | H6PD | c.1693T>A (p.Ser565Thr) c.1726T>A (p.Ser576Thr) c.1720T>A (p.Ser574Thr) c.625T>A (p.Ser209Thr) | |
1 | g.9264186T>C | CA575383 | H6PD | c.1693T>C (p.Ser565Pro) c.1726T>C (p.Ser576Pro) c.1720T>C (p.Ser574Pro) c.625T>C (p.Ser209Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264186T>G | CA338193571 | H6PD | c.1693T>G (p.Ser565Ala) c.1726T>G (p.Ser576Ala) c.1720T>G (p.Ser574Ala) c.625T>G (p.Ser209Ala) | |
1 | g.9264186T= | CA1152694050 | H6PD | c.1693T= (p.Ser565=) c.1726T= (p.Ser576=) c.1720T= (p.Ser574=) c.625T= (p.Ser209=) | |
1 | g.9264187C>A | CA338193573 | H6PD | c.1694C>A (p.Ser565Tyr) c.1727C>A (p.Ser576Tyr) c.1721C>A (p.Ser574Tyr) c.626C>A (p.Ser209Tyr) | |
1 | g.9264187C>G | CA338193574 | H6PD | c.1694C>G (p.Ser565Cys) c.1727C>G (p.Ser576Cys) c.1721C>G (p.Ser574Cys) c.626C>G (p.Ser209Cys) | |
1 | g.9264187C>T | CA338193575 | H6PD | c.1694C>T (p.Ser565Phe) c.1727C>T (p.Ser576Phe) c.1721C>T (p.Ser574Phe) c.626C>T (p.Ser209Phe) | |
1 | g.9264188T>A | CA416031461 | H6PD | c.1695T>A (p.Ser565=) c.1728T>A (p.Ser576=) c.1722T>A (p.Ser574=) c.627T>A (p.Ser209=) | |
1 | g.9264188T>C | CA416031462 | H6PD | c.1695T>C (p.Ser565=) c.1728T>C (p.Ser576=) c.1722T>C (p.Ser574=) c.627T>C (p.Ser209=) | gnomAD v4 |
1 | g.9264188T>G | CA416031463 | H6PD | c.1695T>G (p.Ser565=) c.1728T>G (p.Ser576=) c.1722T>G (p.Ser574=) c.627T>G (p.Ser209=) | |
1 | g.9264189A>C | CA338193576 | H6PD | c.1696A>C (p.Lys566Gln) c.1729A>C (p.Lys577Gln) c.1723A>C (p.Lys575Gln) c.628A>C (p.Lys210Gln) | |
1 | g.9264189A>G | CA338193577 | H6PD | c.1696A>G (p.Lys566Glu) c.1729A>G (p.Lys577Glu) c.1723A>G (p.Lys575Glu) c.628A>G (p.Lys210Glu) | |
1 | g.9264189A>T | CA338193578 | H6PD | c.1696A>T (p.Lys566Ter) c.1729A>T (p.Lys577Ter) c.1723A>T (p.Lys575Ter) c.628A>T (p.Lys210Ter) | |
1 | g.9264190A>C | CA338193579 | H6PD | c.1697A>C (p.Lys566Thr) c.1730A>C (p.Lys577Thr) c.1724A>C (p.Lys575Thr) c.629A>C (p.Lys210Thr) | |
1 | g.9264190A>G | CA338193580 | H6PD | c.1697A>G (p.Lys566Arg) c.1730A>G (p.Lys577Arg) c.1724A>G (p.Lys575Arg) c.629A>G (p.Lys210Arg) | |
1 | g.9264190A>T | CA338193581 | H6PD | c.1697A>T (p.Lys566Met) c.1730A>T (p.Lys577Met) c.1724A>T (p.Lys575Met) c.629A>T (p.Lys210Met) | |
1 | g.9264191G>A | CA416031473 | H6PD | c.1698G>A (p.Lys566=) c.1731G>A (p.Lys577=) c.1725G>A (p.Lys575=) c.630G>A (p.Lys210=) | gnomAD v4 |
1 | g.9264191G>C | CA338193582 | H6PD | c.1698G>C (p.Lys566Asn) c.1731G>C (p.Lys577Asn) c.1725G>C (p.Lys575Asn) c.630G>C (p.Lys210Asn) | |
1 | g.9264191G>T | CA338193583 | H6PD | c.1698G>T (p.Lys566Asn) c.1731G>T (p.Lys577Asn) c.1725G>T (p.Lys575Asn) c.630G>T (p.Lys210Asn) | |
1 | g.9264192C>A | CA338193585 | H6PD | c.1699C>A (p.Leu567Met) c.1732C>A (p.Leu578Met) c.1726C>A (p.Leu576Met) c.631C>A (p.Leu211Met) | |
1 | g.9264192C>G | CA338193584 | H6PD | c.1699C>G (p.Leu567Val) c.1732C>G (p.Leu578Val) c.1726C>G (p.Leu576Val) c.631C>G (p.Leu211Val) | |
1 | g.9264192C>T | CA416031475 | H6PD | c.1699C>T (p.Leu567=) c.1732C>T (p.Leu578=) c.1726C>T (p.Leu576=) c.631C>T (p.Leu211=) | gnomAD v4 |
1 | g.9264193T>A | CA338193586 | H6PD | c.1700T>A (p.Leu567Gln) c.1733T>A (p.Leu578Gln) c.1727T>A (p.Leu576Gln) c.632T>A (p.Leu211Gln) | |
1 | g.9264193T>C | CA338193587 | H6PD | c.1700T>C (p.Leu567Pro) c.1733T>C (p.Leu578Pro) c.1727T>C (p.Leu576Pro) c.632T>C (p.Leu211Pro) | |
1 | g.9264193T>G | CA338193588 | H6PD | c.1700T>G (p.Leu567Arg) c.1733T>G (p.Leu578Arg) c.1727T>G (p.Leu576Arg) c.632T>G (p.Leu211Arg) | |
1 | g.9264194G>A | CA17751312 | H6PD | c.1701G>A (p.Leu567=) c.1734G>A (p.Leu578=) c.1728G>A (p.Leu576=) c.633G>A (p.Leu211=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264194G>C | CA575384 | H6PD | c.1701G>C (p.Leu567=) c.1734G>C (p.Leu578=) c.1728G>C (p.Leu576=) c.633G>C (p.Leu211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264194G= | CA1152694054 | H6PD | c.1701G= (p.Leu567=) c.1734G= (p.Leu578=) c.1728G= (p.Leu576=) c.633G= (p.Leu211=) | |
1 | g.9264194G>T | CA416031480 | H6PD | c.1701G>T (p.Leu567=) c.1734G>T (p.Leu578=) c.1728G>T (p.Leu576=) c.633G>T (p.Leu211=) | |
1 | g.9264195G>A | CA338193589 | H6PD | c.1702G>A (p.Ala568Thr) c.1735G>A (p.Ala579Thr) c.1729G>A (p.Ala577Thr) c.634G>A (p.Ala212Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264195G>C | CA338193590 | H6PD | c.1702G>C (p.Ala568Pro) c.1735G>C (p.Ala579Pro) c.1729G>C (p.Ala577Pro) c.634G>C (p.Ala212Pro) | gnomAD v4 |
1 | g.9264195G= | CA1152694057 | H6PD | c.1702G= (p.Ala568=) c.1735G= (p.Ala579=) c.1729G= (p.Ala577=) c.634G= (p.Ala212=) | |
1 | g.9264195G>T | CA338193591 | H6PD | c.1702G>T (p.Ala568Ser) c.1735G>T (p.Ala579Ser) c.1729G>T (p.Ala577Ser) c.634G>T (p.Ala212Ser) | gnomAD v4 |
1 | g.9264196C>A | CA338193592 | H6PD | c.1703C>A (p.Ala568Asp) c.1736C>A (p.Ala579Asp) c.1730C>A (p.Ala577Asp) c.635C>A (p.Ala212Asp) | dbSNP gnomAD v4 |
1 | g.9264196C= | CA1148278806 | H6PD | c.1703C= (p.Ala568=) c.1736C= (p.Ala579=) c.1730C= (p.Ala577=) c.635C= (p.Ala212=) | |
1 | g.9264196C>G | CA575385 | H6PD | c.1703C>G (p.Ala568Gly) c.1736C>G (p.Ala579Gly) c.1730C>G (p.Ala577Gly) c.635C>G (p.Ala212Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264196C>T | CA338193593 | H6PD | c.1703C>T (p.Ala568Val) c.1736C>T (p.Ala579Val) c.1730C>T (p.Ala577Val) c.635C>T (p.Ala212Val) | |
1 | g.9264197T>A | CA416031491 | H6PD | c.1704T>A (p.Ala568=) c.1737T>A (p.Ala579=) c.1731T>A (p.Ala577=) c.636T>A (p.Ala212=) | |
1 | g.9264197T>C | CA416031492 | H6PD | c.1704T>C (p.Ala568=) c.1737T>C (p.Ala579=) c.1731T>C (p.Ala577=) c.636T>C (p.Ala212=) | |
1 | g.9264197T>G | CA416031490 | H6PD | c.1704T>G (p.Ala568=) c.1737T>G (p.Ala579=) c.1731T>G (p.Ala577=) c.636T>G (p.Ala212=) | |
1 | g.9264198A= | CA1152694064 | H6PD | c.1705A= (p.Asn569=) c.1738A= (p.Asn580=) c.1732A= (p.Asn578=) c.637A= (p.Asn213=) | |
1 | g.9264198A>C | CA338193594 | H6PD | c.1705A>C (p.Asn569His) c.1738A>C (p.Asn580His) c.1732A>C (p.Asn578His) c.637A>C (p.Asn213His) | |
1 | g.9264198A>G | CA17751335 | H6PD | c.1705A>G (p.Asn569Asp) c.1738A>G (p.Asn580Asp) c.1732A>G (p.Asn578Asp) c.637A>G (p.Asn213Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264198A>T | CA338193595 | H6PD | c.1705A>T (p.Asn569Tyr) c.1738A>T (p.Asn580Tyr) c.1732A>T (p.Asn578Tyr) c.637A>T (p.Asn213Tyr) | |
1 | g.9264199A>C | CA338193596 | H6PD | c.1706A>C (p.Asn569Thr) c.1739A>C (p.Asn580Thr) c.1733A>C (p.Asn578Thr) c.638A>C (p.Asn213Thr) | |
1 | g.9264199A>G | CA338193598 | H6PD | c.1706A>G (p.Asn569Ser) c.1739A>G (p.Asn580Ser) c.1733A>G (p.Asn578Ser) c.638A>G (p.Asn213Ser) | |
1 | g.9264199A>T | CA338193597 | H6PD | c.1706A>T (p.Asn569Ile) c.1739A>T (p.Asn580Ile) c.1733A>T (p.Asn578Ile) c.638A>T (p.Asn213Ile) | |
1 | g.9264200T>A | CA575386 | H6PD | c.1707T>A (p.Asn569Lys) c.1740T>A (p.Asn580Lys) c.1734T>A (p.Asn578Lys) c.639T>A (p.Asn213Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264200T>C | CA416031502 | H6PD | c.1707T>C (p.Asn569=) c.1740T>C (p.Asn580=) c.1734T>C (p.Asn578=) c.639T>C (p.Asn213=) | |
1 | g.9264200T>G | CA575387 | H6PD | c.1707T>G (p.Asn569Lys) c.1740T>G (p.Asn580Lys) c.1734T>G (p.Asn578Lys) c.639T>G (p.Asn213Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264200T= | CA1145969191 | H6PD | c.1707T= (p.Asn569=) c.1740T= (p.Asn580=) c.1734T= (p.Asn578=) c.639T= (p.Asn213=) | |
1 | g.9264202_9264219del | CA2643115498 | H6PD | c.1709_1726del (p.Asp570_Ala575del) c.1742_1759del (p.Asp581_Ala586del) c.1736_1753del (p.Asp579_Ala584del) c.641_658del (p.Asp214_Ala219del) | gnomAD v4 |
1 | g.9264201G>A | CA338193599 | H6PD | c.1708G>A (p.Asp570Asn) c.1741G>A (p.Asp581Asn) c.1735G>A (p.Asp579Asn) c.640G>A (p.Asp214Asn) | |
1 | g.9264201G>C | CA338193600 | H6PD | c.1708G>C (p.Asp570His) c.1741G>C (p.Asp581His) c.1735G>C (p.Asp579His) c.640G>C (p.Asp214His) | |
1 | g.9264201G>T | CA338193601 | H6PD | c.1708G>T (p.Asp570Tyr) c.1741G>T (p.Asp581Tyr) c.1735G>T (p.Asp579Tyr) c.640G>T (p.Asp214Tyr) | |
1 | g.9264202A>C | CA338193602 | H6PD | c.1709A>C (p.Asp570Ala) c.1742A>C (p.Asp581Ala) c.1736A>C (p.Asp579Ala) c.641A>C (p.Asp214Ala) | |
1 | g.9264202A>G | CA338193603 | H6PD | c.1709A>G (p.Asp570Gly) c.1742A>G (p.Asp581Gly) c.1736A>G (p.Asp579Gly) c.641A>G (p.Asp214Gly) | |
1 | g.9264202A>T | CA338193604 | H6PD | c.1709A>T (p.Asp570Val) c.1742A>T (p.Asp581Val) c.1736A>T (p.Asp579Val) c.641A>T (p.Asp214Val) | |
1 | g.9264203C>A | CA338193605 | H6PD | c.1710C>A (p.Asp570Glu) c.1743C>A (p.Asp581Glu) c.1737C>A (p.Asp579Glu) c.642C>A (p.Asp214Glu) | |
1 | g.9264203C>G | CA338193606 | H6PD | c.1710C>G (p.Asp570Glu) c.1743C>G (p.Asp581Glu) c.1737C>G (p.Asp579Glu) c.642C>G (p.Asp214Glu) | |
1 | g.9264203C>T | CA416031510 | H6PD | c.1710C>T (p.Asp570=) c.1743C>T (p.Asp581=) c.1737C>T (p.Asp579=) c.642C>T (p.Asp214=) | |
1 | g.9264204A>C | CA338193607 | H6PD | c.1711A>C (p.Ile571Leu) c.1744A>C (p.Ile582Leu) c.1738A>C (p.Ile580Leu) c.643A>C (p.Ile215Leu) | |
1 | g.9264204A>G | CA338193608 | H6PD | c.1711A>G (p.Ile571Val) c.1744A>G (p.Ile582Val) c.1738A>G (p.Ile580Val) c.643A>G (p.Ile215Val) | |
1 | g.9264204A>T | CA338193610 | H6PD | c.1711A>T (p.Ile571Phe) c.1744A>T (p.Ile582Phe) c.1738A>T (p.Ile580Phe) c.643A>T (p.Ile215Phe) | |
1 | g.9264205T>A | CA338193612 | H6PD | c.1712T>A (p.Ile571Asn) c.1745T>A (p.Ile582Asn) c.1739T>A (p.Ile580Asn) c.644T>A (p.Ile215Asn) | |
1 | g.9264205T>C | CA338193614 | H6PD | c.1712T>C (p.Ile571Thr) c.1745T>C (p.Ile582Thr) c.1739T>C (p.Ile580Thr) c.644T>C (p.Ile215Thr) | dbSNP |
1 | g.9264205T>G | CA338193613 | H6PD | c.1712T>G (p.Ile571Ser) c.1745T>G (p.Ile582Ser) c.1739T>G (p.Ile580Ser) c.644T>G (p.Ile215Ser) | |
1 | g.9264205T= | CA1152694071 | H6PD | c.1712T= (p.Ile571=) c.1745T= (p.Ile582=) c.1739T= (p.Ile580=) c.644T= (p.Ile215=) | |
1 | g.9264206C>A | CA416031526 | H6PD | c.1713C>A (p.Ile571=) c.1746C>A (p.Ile582=) c.1740C>A (p.Ile580=) c.645C>A (p.Ile215=) | |
1 | g.9264206C= | CA1149137194 | H6PD | c.1713C= (p.Ile571=) c.1746C= (p.Ile582=) c.1740C= (p.Ile580=) c.645C= (p.Ile215=) | |
1 | g.9264206C>G | CA575388 | H6PD | c.1713C>G (p.Ile571Met) c.1746C>G (p.Ile582Met) c.1740C>G (p.Ile580Met) c.645C>G (p.Ile215Met) | dbSNP ExAC gnomAD v2 |
1 | g.9264206C>T | CA416031527 | H6PD | c.1713C>T (p.Ile571=) c.1746C>T (p.Ile582=) c.1740C>T (p.Ile580=) c.645C>T (p.Ile215=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.9264207G>A | CA575389 | H6PD | c.1714G>A (p.Glu572Lys) c.1747G>A (p.Glu583Lys) c.1741G>A (p.Glu581Lys) c.646G>A (p.Glu216Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.9264207G>C | CA17751344 | H6PD | c.1714G>C (p.Glu572Gln) c.1747G>C (p.Glu583Gln) c.1741G>C (p.Glu581Gln) c.646G>C (p.Glu216Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264207G= | CA1147113779 | H6PD | c.1714G= (p.Glu572=) c.1747G= (p.Glu583=) c.1741G= (p.Glu581=) c.646G= (p.Glu216=) | |
1 | g.9264207G>T | CA338193615 | H6PD | c.1714G>T (p.Glu572Ter) c.1747G>T (p.Glu583Ter) c.1741G>T (p.Glu581Ter) c.646G>T (p.Glu216Ter) | |
1 | g.9264208A>C | CA338193616 | H6PD | c.1715A>C (p.Glu572Ala) c.1748A>C (p.Glu583Ala) c.1742A>C (p.Glu581Ala) c.647A>C (p.Glu216Ala) | |
1 | g.9264208A>G | CA338193617 | H6PD | c.1715A>G (p.Glu572Gly) c.1748A>G (p.Glu583Gly) c.1742A>G (p.Glu581Gly) c.647A>G (p.Glu216Gly) | |
1 | g.9264208A>T | CA338193618 | H6PD | c.1715A>T (p.Glu572Val) c.1748A>T (p.Glu583Val) c.1742A>T (p.Glu581Val) c.647A>T (p.Glu216Val) | |
1 | g.9264209G>A | CA575390 | H6PD | c.1716G>A (p.Glu572=) c.1749G>A (p.Glu583=) c.1743G>A (p.Glu581=) c.648G>A (p.Glu216=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264209G>C | CA338193619 | H6PD | c.1716G>C (p.Glu572Asp) c.1749G>C (p.Glu583Asp) c.1743G>C (p.Glu581Asp) c.648G>C (p.Glu216Asp) | gnomAD v4 |
1 | g.9264209G= | CA1152694086 | H6PD | c.1716G= (p.Glu572=) c.1749G= (p.Glu583=) c.1743G= (p.Glu581=) c.648G= (p.Glu216=) | |
1 | g.9264209G>T | CA338193620 | H6PD | c.1716G>T (p.Glu572Asp) c.1749G>T (p.Glu583Asp) c.1743G>T (p.Glu581Asp) c.648G>T (p.Glu216Asp) | |
1 | g.9264210G>A | CA338193622 | H6PD | c.1717G>A (p.Ala573Thr) c.1750G>A (p.Ala584Thr) c.1744G>A (p.Ala582Thr) c.649G>A (p.Ala217Thr) | |
1 | g.9264210G>C | CA338193623 | H6PD | c.1717G>C (p.Ala573Pro) c.1750G>C (p.Ala584Pro) c.1744G>C (p.Ala582Pro) c.649G>C (p.Ala217Pro) | |
1 | g.9264210G>T | CA338193621 | H6PD | c.1717G>T (p.Ala573Ser) c.1750G>T (p.Ala584Ser) c.1744G>T (p.Ala582Ser) c.649G>T (p.Ala217Ser) | gnomAD v4 |
1 | g.9264211C>A | CA338193626 | H6PD | c.1718C>A (p.Ala573Asp) c.1751C>A (p.Ala584Asp) c.1745C>A (p.Ala582Asp) c.650C>A (p.Ala217Asp) | |
1 | g.9264211C= | CA1152694096 | H6PD | c.1718C= (p.Ala573=) c.1751C= (p.Ala584=) c.1745C= (p.Ala582=) c.650C= (p.Ala217=) | |
1 | g.9264211C>G | CA338193624 | H6PD | c.1718C>G (p.Ala573Gly) c.1751C>G (p.Ala584Gly) c.1745C>G (p.Ala582Gly) c.650C>G (p.Ala217Gly) | gnomAD v4 |
1 | g.9264211C>T | CA338193625 | H6PD | c.1718C>T (p.Ala573Val) c.1751C>T (p.Ala584Val) c.1745C>T (p.Ala582Val) c.650C>T (p.Ala217Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264212C>A | CA416031542 | H6PD | c.1719C>A (p.Ala573=) c.1752C>A (p.Ala584=) c.1746C>A (p.Ala582=) c.651C>A (p.Ala217=) | |
1 | g.9264212C>G | CA416031544 | H6PD | c.1719C>G (p.Ala573=) c.1752C>G (p.Ala584=) c.1746C>G (p.Ala582=) c.651C>G (p.Ala217=) | |
1 | g.9264212C>T | CA416031545 | H6PD | c.1719C>T (p.Ala573=) c.1752C>T (p.Ala584=) c.1746C>T (p.Ala582=) c.651C>T (p.Ala217=) | gnomAD v4 |
1 | g.9264213A= | CA1152694122 | H6PD | c.1720A= (p.Thr574=) c.1753A= (p.Thr585=) c.1747A= (p.Thr583=) c.652A= (p.Thr218=) | |
1 | g.9264213A>C | CA338193627 | H6PD | c.1720A>C (p.Thr574Pro) c.1753A>C (p.Thr585Pro) c.1747A>C (p.Thr583Pro) c.652A>C (p.Thr218Pro) | |
1 | g.9264213A>G | CA338193628 | H6PD | c.1720A>G (p.Thr574Ala) c.1753A>G (p.Thr585Ala) c.1747A>G (p.Thr583Ala) c.652A>G (p.Thr218Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264213A>T | CA338193629 | H6PD | c.1720A>T (p.Thr574Ser) c.1753A>T (p.Thr585Ser) c.1747A>T (p.Thr583Ser) c.652A>T (p.Thr218Ser) | |
1 | g.9264214C>A | CA338193630 | H6PD | c.1721C>A (p.Thr574Asn) c.1754C>A (p.Thr585Asn) c.1748C>A (p.Thr583Asn) c.653C>A (p.Thr218Asn) | |
1 | g.9264214C>G | CA338193631 | H6PD | c.1721C>G (p.Thr574Ser) c.1754C>G (p.Thr585Ser) c.1748C>G (p.Thr583Ser) c.653C>G (p.Thr218Ser) | |
1 | g.9264214C>T | CA338193632 | H6PD | c.1721C>T (p.Thr574Ile) c.1754C>T (p.Thr585Ile) c.1748C>T (p.Thr583Ile) c.653C>T (p.Thr218Ile) | gnomAD v4 |
1 | g.9264215C>A | CA416031555 | H6PD | c.1722C>A (p.Thr574=) c.1755C>A (p.Thr585=) c.1749C>A (p.Thr583=) c.654C>A (p.Thr218=) | gnomAD v4 |
1 | g.9264215C= | CA1143401450 | H6PD | c.1722C= (p.Thr574=) c.1755C= (p.Thr585=) c.1749C= (p.Thr583=) c.654C= (p.Thr218=) | |
1 | g.9264215C>G | CA416031560 | H6PD | c.1722C>G (p.Thr574=) c.1755C>G (p.Thr585=) c.1749C>G (p.Thr583=) c.654C>G (p.Thr218=) | gnomAD v4 |
1 | g.9264215C>T | CA575391 | H6PD | c.1722C>T (p.Thr574=) c.1755C>T (p.Thr585=) c.1749C>T (p.Thr583=) c.654C>T (p.Thr218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.9264216G>A | CA575392 | H6PD | c.1723G>A (p.Ala575Thr) c.1756G>A (p.Ala586Thr) c.1750G>A (p.Ala584Thr) c.655G>A (p.Ala219Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264216G>C | CA338193633 | H6PD | c.1723G>C (p.Ala575Pro) c.1756G>C (p.Ala586Pro) c.1750G>C (p.Ala584Pro) c.655G>C (p.Ala219Pro) | |
1 | g.9264216G= | CA1142294361 | H6PD | c.1723G= (p.Ala575=) c.1756G= (p.Ala586=) c.1750G= (p.Ala584=) c.655G= (p.Ala219=) | |
1 | g.9264216G>T | CA338193634 | H6PD | c.1723G>T (p.Ala575Ser) c.1756G>T (p.Ala586Ser) c.1750G>T (p.Ala584Ser) c.655G>T (p.Ala219Ser) | |
1 | g.9264217C>A | CA338193637 | H6PD | c.1724C>A (p.Ala575Asp) c.1757C>A (p.Ala586Asp) c.1751C>A (p.Ala584Asp) c.656C>A (p.Ala219Asp) | |
1 | g.9264217C>G | CA338193636 | H6PD | c.1724C>G (p.Ala575Gly) c.1757C>G (p.Ala586Gly) c.1751C>G (p.Ala584Gly) c.656C>G (p.Ala219Gly) | |
1 | g.9264217C>T | CA338193635 | H6PD | c.1724C>T (p.Ala575Val) c.1757C>T (p.Ala586Val) c.1751C>T (p.Ala584Val) c.656C>T (p.Ala219Val) | gnomAD v4 |
1 | g.9264217dup | CA2840119175 | H6PD | c.1724dup (p.Val576CysfsTer?) c.1757dup (p.Val587CysfsTer?) c.1751dup (p.Val585CysfsTer?) c.656dup (p.Val220CysfsTer?) | |
1 | g.9264218T>A | CA416031567 | H6PD | c.1725T>A (p.Ala575=) c.1758T>A (p.Ala586=) c.1752T>A (p.Ala584=) c.657T>A (p.Ala219=) | |
1 | g.9264218T>C | CA575393 | H6PD | c.1725T>C (p.Ala575=) c.1758T>C (p.Ala586=) c.1752T>C (p.Ala584=) c.657T>C (p.Ala219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264218T>G | CA416031568 | H6PD | c.1725T>G (p.Ala575=) c.1758T>G (p.Ala586=) c.1752T>G (p.Ala584=) c.657T>G (p.Ala219=) | |
1 | g.9264218T= | CA1141533595 | H6PD | c.1725T= (p.Ala575=) c.1758T= (p.Ala586=) c.1752T= (p.Ala584=) c.657T= (p.Ala219=) | |
1 | g.9264219G>A | CA338193638 | H6PD | c.1726G>A (p.Val576Met) c.1759G>A (p.Val587Met) c.1753G>A (p.Val585Met) c.658G>A (p.Val220Met) | gnomAD v4 |
1 | g.9264219G>C | CA338193639 | H6PD | c.1726G>C (p.Val576Leu) c.1759G>C (p.Val587Leu) c.1753G>C (p.Val585Leu) c.658G>C (p.Val220Leu) | |
1 | g.9264219G>T | CA338193640 | H6PD | c.1726G>T (p.Val576Leu) c.1759G>T (p.Val587Leu) c.1753G>T (p.Val585Leu) c.658G>T (p.Val220Leu) | |
1 | g.9264220T>A | CA338193641 | H6PD | c.1727T>A (p.Val576Glu) c.1760T>A (p.Val587Glu) c.1754T>A (p.Val585Glu) c.659T>A (p.Val220Glu) | |
1 | g.9264220T>C | CA338193642 | H6PD | c.1727T>C (p.Val576Ala) c.1760T>C (p.Val587Ala) c.1754T>C (p.Val585Ala) c.659T>C (p.Val220Ala) | dbSNP gnomAD v4 |
1 | g.9264220T>G | CA338193643 | H6PD | c.1727T>G (p.Val576Gly) c.1760T>G (p.Val587Gly) c.1754T>G (p.Val585Gly) c.659T>G (p.Val220Gly) | |
1 | g.9264220T= | CA1152694151 | H6PD | c.1727T= (p.Val576=) c.1760T= (p.Val587=) c.1754T= (p.Val585=) c.659T= (p.Val220=) | |
1 | g.9264221G>A | CA416031571 | H6PD | c.1728G>A (p.Val576=) c.1761G>A (p.Val587=) c.1755G>A (p.Val585=) c.660G>A (p.Val220=) | gnomAD v4 |
1 | g.9264221G>C | CA416031575 | H6PD | c.1728G>C (p.Val576=) c.1761G>C (p.Val587=) c.1755G>C (p.Val585=) c.660G>C (p.Val220=) | |
1 | g.9264221G>T | CA416031574 | H6PD | c.1728G>T (p.Val576=) c.1761G>T (p.Val587=) c.1755G>T (p.Val585=) c.660G>T (p.Val220=) | |
1 | g.9264222C>A | CA416031576 | H6PD | c.1729C>A (p.Arg577=) c.1762C>A (p.Arg588=) c.1756C>A (p.Arg586=) c.661C>A (p.Arg221=) | |
1 | g.9264222C= | CA1152694158 | H6PD | c.1729C= (p.Arg577=) c.1762C= (p.Arg588=) c.1756C= (p.Arg586=) c.661C= (p.Arg221=) | |
1 | g.9264222C>G | CA338193644 | H6PD | c.1729C>G (p.Arg577Gly) c.1762C>G (p.Arg588Gly) c.1756C>G (p.Arg586Gly) c.661C>G (p.Arg221Gly) | gnomAD v4 |
1 | g.9264222C>T | CA575394 | H6PD | c.1729C>T (p.Arg577Ter) c.1762C>T (p.Arg588Ter) c.1756C>T (p.Arg586Ter) c.661C>T (p.Arg221Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264223G>A | CA575395 | H6PD | c.1730G>A (p.Arg577Gln) c.1763G>A (p.Arg588Gln) c.1757G>A (p.Arg586Gln) c.662G>A (p.Arg221Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264223G>C | CA338193645 | H6PD | c.1730G>C (p.Arg577Pro) c.1763G>C (p.Arg588Pro) c.1757G>C (p.Arg586Pro) c.662G>C (p.Arg221Pro) | |
1 | g.9264223G= | CA1143461960 | H6PD | c.1730G= (p.Arg577=) c.1763G= (p.Arg588=) c.1757G= (p.Arg586=) c.662G= (p.Arg221=) | |
1 | g.9264223G>T | CA338193646 | H6PD | c.1730G>T (p.Arg577Leu) c.1763G>T (p.Arg588Leu) c.1757G>T (p.Arg586Leu) c.662G>T (p.Arg221Leu) | |
1 | g.9264224A>C | CA416031581 | H6PD | c.1731A>C (p.Arg577=) c.1764A>C (p.Arg588=) c.1758A>C (p.Arg586=) c.663A>C (p.Arg221=) | |
1 | g.9264224A>G | CA416031586 | H6PD | c.1731A>G (p.Arg577=) c.1764A>G (p.Arg588=) c.1758A>G (p.Arg586=) c.663A>G (p.Arg221=) | |
1 | g.9264224A>T | CA416031588 | H6PD | c.1731A>T (p.Arg577=) c.1764A>T (p.Arg588=) c.1758A>T (p.Arg586=) c.663A>T (p.Arg221=) | |
1 | g.9264225G>A | CA338193649 | H6PD | c.1732G>A (p.Ala578Thr) c.1765G>A (p.Ala589Thr) c.1759G>A (p.Ala587Thr) c.664G>A (p.Ala222Thr) | |
1 | g.9264225G>C | CA338193648 | H6PD | c.1732G>C (p.Ala578Pro) c.1765G>C (p.Ala589Pro) c.1759G>C (p.Ala587Pro) c.664G>C (p.Ala222Pro) | |
1 | g.9264225G>T | CA338193647 | H6PD | c.1732G>T (p.Ala578Ser) c.1765G>T (p.Ala589Ser) c.1759G>T (p.Ala587Ser) c.664G>T (p.Ala222Ser) | gnomAD v4 |
1 | g.9264226C>A | CA338193650 | H6PD | c.1733C>A (p.Ala578Asp) c.1766C>A (p.Ala589Asp) c.1760C>A (p.Ala587Asp) c.665C>A (p.Ala222Asp) | |
1 | g.9264226C>G | CA338193651 | H6PD | c.1733C>G (p.Ala578Gly) c.1766C>G (p.Ala589Gly) c.1760C>G (p.Ala587Gly) c.665C>G (p.Ala222Gly) | |
1 | g.9264226C>T | CA338193652 | H6PD | c.1733C>T (p.Ala578Val) c.1766C>T (p.Ala589Val) c.1760C>T (p.Ala587Val) c.665C>T (p.Ala222Val) | gnomAD v4 |
1 | g.9264227C>A | CA416031597 | H6PD | c.1734C>A (p.Ala578=) c.1767C>A (p.Ala589=) c.1761C>A (p.Ala587=) c.666C>A (p.Ala222=) | |
1 | g.9264227C= | CA1141084128 | H6PD | c.1734C= (p.Ala578=) c.1767C= (p.Ala589=) c.1761C= (p.Ala587=) c.666C= (p.Ala222=) | |
1 | g.9264227C>G | CA416031598 | H6PD | c.1734C>G (p.Ala578=) c.1767C>G (p.Ala589=) c.1761C>G (p.Ala587=) c.666C>G (p.Ala222=) | |
1 | g.9264227C>T | CA575396 | H6PD | c.1734C>T (p.Ala578=) c.1767C>T (p.Ala589=) c.1761C>T (p.Ala587=) c.666C>T (p.Ala222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264228G>A | CA575397 | H6PD | c.1735G>A (p.Val579Met) c.1768G>A (p.Val590Met) c.1762G>A (p.Val588Met) c.667G>A (p.Val223Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264228G>C | CA338193653 | H6PD | c.1735G>C (p.Val579Leu) c.1768G>C (p.Val590Leu) c.1762G>C (p.Val588Leu) c.667G>C (p.Val223Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264228G= | CA1152694192 | H6PD | c.1735G= (p.Val579=) c.1768G= (p.Val590=) c.1762G= (p.Val588=) c.667G= (p.Val223=) | |
1 | g.9264228G>T | CA338193654 | H6PD | c.1735G>T (p.Val579Leu) c.1768G>T (p.Val590Leu) c.1762G>T (p.Val588Leu) c.667G>T (p.Val223Leu) | |
1 | g.9264229T>A | CA338193655 | H6PD | c.1736T>A (p.Val579Glu) c.1769T>A (p.Val590Glu) c.1763T>A (p.Val588Glu) c.668T>A (p.Val223Glu) | |
1 | g.9264229T>C | CA338193656 | H6PD | c.1736T>C (p.Val579Ala) c.1769T>C (p.Val590Ala) c.1763T>C (p.Val588Ala) c.668T>C (p.Val223Ala) | |
1 | g.9264229T>G | CA338193657 | H6PD | c.1736T>G (p.Val579Gly) c.1769T>G (p.Val590Gly) c.1763T>G (p.Val588Gly) c.668T>G (p.Val223Gly) | |
1 | g.9264230G>A | CA416031618 | H6PD | c.1737G>A (p.Val579=) c.1770G>A (p.Val590=) c.1764G>A (p.Val588=) c.669G>A (p.Val223=) | |
1 | g.9264230G>C | CA416031616 | H6PD | c.1737G>C (p.Val579=) c.1770G>C (p.Val590=) c.1764G>C (p.Val588=) c.669G>C (p.Val223=) | |
1 | g.9264230G>T | CA416031615 | H6PD | c.1737G>T (p.Val579=) c.1770G>T (p.Val590=) c.1764G>T (p.Val588=) c.669G>T (p.Val223=) | gnomAD v4 |
1 | g.9264231C>A | CA416031619 | H6PD | c.1738C>A (p.Arg580=) c.1771C>A (p.Arg591=) c.1765C>A (p.Arg589=) c.670C>A (p.Arg224=) | |
1 | g.9264231C= | CA1152694202 | H6PD | c.1738C= (p.Arg580=) c.1771C= (p.Arg591=) c.1765C= (p.Arg589=) c.670C= (p.Arg224=) | |
1 | g.9264231C>G | CA338193658 | H6PD | c.1738C>G (p.Arg580Gly) c.1771C>G (p.Arg591Gly) c.1765C>G (p.Arg589Gly) c.670C>G (p.Arg224Gly) | |
1 | g.9264231C>T | CA575398 | H6PD | c.1738C>T (p.Arg580Trp) c.1771C>T (p.Arg591Trp) c.1765C>T (p.Arg589Trp) c.670C>T (p.Arg224Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.9264232G>A | CA575399 | H6PD | c.1739G>A (p.Arg580Gln) c.1772G>A (p.Arg591Gln) c.1766G>A (p.Arg589Gln) c.671G>A (p.Arg224Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264232G>C | CA338193660 | H6PD | c.1739G>C (p.Arg580Pro) c.1772G>C (p.Arg591Pro) c.1766G>C (p.Arg589Pro) c.671G>C (p.Arg224Pro) | |
1 | g.9264232G= | CA1152694213 | H6PD | c.1739G= (p.Arg580=) c.1772G= (p.Arg591=) c.1766G= (p.Arg589=) c.671G= (p.Arg224=) | |
1 | g.9264232G>T | CA338193659 | H6PD | c.1739G>T (p.Arg580Leu) c.1772G>T (p.Arg591Leu) c.1766G>T (p.Arg589Leu) c.671G>T (p.Arg224Leu) | gnomAD v4 |
1 | g.9264233G>A | CA575400 | H6PD | c.1740G>A (p.Arg580=) c.1773G>A (p.Arg591=) c.1767G>A (p.Arg589=) c.672G>A (p.Arg224=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264233G>C | CA416031626 | H6PD | c.1740G>C (p.Arg580=) c.1773G>C (p.Arg591=) c.1767G>C (p.Arg589=) c.672G>C (p.Arg224=) | |
1 | g.9264233G= | CA1141274646 | H6PD | c.1740G= (p.Arg580=) c.1773G= (p.Arg591=) c.1767G= (p.Arg589=) c.672G= (p.Arg224=) | |
1 | g.9264233G>T | CA416031627 | H6PD | c.1740G>T (p.Arg580=) c.1773G>T (p.Arg591=) c.1767G>T (p.Arg589=) c.672G>T (p.Arg224=) | |
1 | g.9264234C>A | CA338193661 | H6PD | c.1741C>A (p.Arg581Ser) c.1774C>A (p.Arg592Ser) c.1768C>A (p.Arg590Ser) c.673C>A (p.Arg225Ser) | gnomAD v4 |
1 | g.9264234C= | CA1152694222 | H6PD | c.1741C= (p.Arg581=) c.1774C= (p.Arg592=) c.1768C= (p.Arg590=) c.673C= (p.Arg225=) | |
1 | g.9264234C>G | CA338193662 | H6PD | c.1741C>G (p.Arg581Gly) c.1774C>G (p.Arg592Gly) c.1768C>G (p.Arg590Gly) c.673C>G (p.Arg225Gly) | |
1 | g.9264234C>T | CA575401 | H6PD | c.1741C>T (p.Arg581Cys) c.1774C>T (p.Arg592Cys) c.1768C>T (p.Arg590Cys) c.673C>T (p.Arg225Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.9264235G>A | CA575402 | H6PD | c.1742G>A (p.Arg581His) c.1775G>A (p.Arg592His) c.1769G>A (p.Arg590His) c.674G>A (p.Arg225His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264235G>C | CA338193664 | H6PD | c.1742G>C (p.Arg581Pro) c.1775G>C (p.Arg592Pro) c.1769G>C (p.Arg590Pro) c.674G>C (p.Arg225Pro) | |
1 | g.9264235G= | CA1142243722 | H6PD | c.1742G= (p.Arg581=) c.1775G= (p.Arg592=) c.1769G= (p.Arg590=) c.674G= (p.Arg225=) | |
1 | g.9264235G>T | CA338193663 | H6PD | c.1742G>T (p.Arg581Leu) c.1775G>T (p.Arg592Leu) c.1769G>T (p.Arg590Leu) c.674G>T (p.Arg225Leu) | dbSNP gnomAD v2 |
1 | g.9264235_9264257delinsGCTTTGGCCAGTTCCACCTGGCA | CA1152694236 | H6PD | c.1742_1764delinsGCTTTGGCCAGTTCCACCTGGCA (p.Arg581=) c.1775_1797delinsGCTTTGGCCAGTTCCACCTGGCA (p.Arg592=) c.1769_1791delinsGCTTTGGCCAGTTCCACCTGGCA (p.Arg590=) c.674_696delinsGCTTTGGCCAGTTCCACCTGGCA (p.Arg225=) | |
1 | g.9264236C>A | CA416031634 | H6PD | c.1743C>A (p.Arg581=) c.1776C>A (p.Arg592=) c.1770C>A (p.Arg590=) c.675C>A (p.Arg225=) | |
1 | g.9264236C>G | CA416031635 | H6PD | c.1743C>G (p.Arg581=) c.1776C>G (p.Arg592=) c.1770C>G (p.Arg590=) c.675C>G (p.Arg225=) | |
1 | g.9264236C>T | CA416031637 | H6PD | c.1743C>T (p.Arg581=) c.1776C>T (p.Arg592=) c.1770C>T (p.Arg590=) c.675C>T (p.Arg225=) | |
1 | g.9264238_9264259del | CA575403 | H6PD | c.1745_1766del (p.Phe582CysfsTer?) c.1778_1799del (p.Phe593CysfsTer?) c.1772_1793del (p.Phe591CysfsTer?) c.677_698del (p.Phe226CysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264237T>A | CA338193665 | H6PD | c.1744T>A (p.Phe582Ile) c.1777T>A (p.Phe593Ile) c.1771T>A (p.Phe591Ile) c.676T>A (p.Phe226Ile) | |
1 | g.9264237T>C | CA338193666 | H6PD | c.1744T>C (p.Phe582Leu) c.1777T>C (p.Phe593Leu) c.1771T>C (p.Phe591Leu) c.676T>C (p.Phe226Leu) | |
1 | g.9264237T>G | CA338193667 | H6PD | c.1744T>G (p.Phe582Val) c.1777T>G (p.Phe593Val) c.1771T>G (p.Phe591Val) c.676T>G (p.Phe226Val) | |
1 | g.9264238T>A | CA338193668 | H6PD | c.1745T>A (p.Phe582Tyr) c.1778T>A (p.Phe593Tyr) c.1772T>A (p.Phe591Tyr) c.677T>A (p.Phe226Tyr) | |
1 | g.9264238T>C | CA338193669 | H6PD | c.1745T>C (p.Phe582Ser) c.1778T>C (p.Phe593Ser) c.1772T>C (p.Phe591Ser) c.677T>C (p.Phe226Ser) | dbSNP |
1 | g.9264238T>G | CA338193670 | H6PD | c.1745T>G (p.Phe582Cys) c.1778T>G (p.Phe593Cys) c.1772T>G (p.Phe591Cys) c.677T>G (p.Phe226Cys) | |
1 | g.9264238T= | CA1152694243 | H6PD | c.1745T= (p.Phe582=) c.1778T= (p.Phe593=) c.1772T= (p.Phe591=) c.677T= (p.Phe226=) | |
1 | g.9264239T>A | CA338193671 | H6PD | c.1746T>A (p.Phe582Leu) c.1779T>A (p.Phe593Leu) c.1773T>A (p.Phe591Leu) c.678T>A (p.Phe226Leu) | |
1 | g.9264239T>C | CA416031646 | H6PD | c.1746T>C (p.Phe582=) c.1779T>C (p.Phe593=) c.1773T>C (p.Phe591=) c.678T>C (p.Phe226=) | |
1 | g.9264239T>G | CA338193672 | H6PD | c.1746T>G (p.Phe582Leu) c.1779T>G (p.Phe593Leu) c.1773T>G (p.Phe591Leu) c.678T>G (p.Phe226Leu) | gnomAD v4 |
1 | g.9264240G>A | CA338193673 | H6PD | c.1747G>A (p.Gly583Ser) c.1780G>A (p.Gly594Ser) c.1774G>A (p.Gly592Ser) c.679G>A (p.Gly227Ser) | |
1 | g.9264240G>C | CA338193675 | H6PD | c.1747G>C (p.Gly583Arg) c.1780G>C (p.Gly594Arg) c.1774G>C (p.Gly592Arg) c.679G>C (p.Gly227Arg) | |
1 | g.9264240G>T | CA338193674 | H6PD | c.1747G>T (p.Gly583Cys) c.1780G>T (p.Gly594Cys) c.1774G>T (p.Gly592Cys) c.679G>T (p.Gly227Cys) | |
1 | g.9264241G>A | CA575404 | H6PD | c.1748G>A (p.Gly583Asp) c.1781G>A (p.Gly594Asp) c.1775G>A (p.Gly592Asp) c.680G>A (p.Gly227Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264241G>C | CA338193676 | H6PD | c.1748G>C (p.Gly583Ala) c.1781G>C (p.Gly594Ala) c.1775G>C (p.Gly592Ala) c.680G>C (p.Gly227Ala) | |
1 | g.9264241G= | CA1143420364 | H6PD | c.1748G= (p.Gly583=) c.1781G= (p.Gly594=) c.1775G= (p.Gly592=) c.680G= (p.Gly227=) | |
1 | g.9264241G>T | CA338193677 | H6PD | c.1748G>T (p.Gly583Val) c.1781G>T (p.Gly594Val) c.1775G>T (p.Gly592Val) c.680G>T (p.Gly227Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264242C>A | CA416031666 | H6PD | c.1749C>A (p.Gly583=) c.1782C>A (p.Gly594=) c.1776C>A (p.Gly592=) c.681C>A (p.Gly227=) | |
1 | g.9264242C>G | CA416031658 | H6PD | c.1749C>G (p.Gly583=) c.1782C>G (p.Gly594=) c.1776C>G (p.Gly592=) c.681C>G (p.Gly227=) | |
1 | g.9264242C>T | CA416031664 | H6PD | c.1749C>T (p.Gly583=) c.1782C>T (p.Gly594=) c.1776C>T (p.Gly592=) c.681C>T (p.Gly227=) | gnomAD v4 |
1 | g.9264243C>A | CA338193678 | H6PD | c.1750C>A (p.Gln584Lys) c.1783C>A (p.Gln595Lys) c.1777C>A (p.Gln593Lys) c.682C>A (p.Gln228Lys) | |
1 | g.9264243C>G | CA338193679 | H6PD | c.1750C>G (p.Gln584Glu) c.1783C>G (p.Gln595Glu) c.1777C>G (p.Gln593Glu) c.682C>G (p.Gln228Glu) | |
1 | g.9264243C>T | CA338193680 | H6PD | c.1750C>T (p.Gln584Ter) c.1783C>T (p.Gln595Ter) c.1777C>T (p.Gln593Ter) c.682C>T (p.Gln228Ter) | |
1 | g.9264244A>C | CA338193681 | H6PD | c.1751A>C (p.Gln584Pro) c.1784A>C (p.Gln595Pro) c.1778A>C (p.Gln593Pro) c.683A>C (p.Gln228Pro) | |
1 | g.9264244A>G | CA338193682 | H6PD | c.1751A>G (p.Gln584Arg) c.1784A>G (p.Gln595Arg) c.1778A>G (p.Gln593Arg) c.683A>G (p.Gln228Arg) | |
1 | g.9264244A>T | CA338193683 | H6PD | c.1751A>T (p.Gln584Leu) c.1784A>T (p.Gln595Leu) c.1778A>T (p.Gln593Leu) c.683A>T (p.Gln228Leu) | |
1 | g.9264245G>A | CA416031673 | H6PD | c.1752G>A (p.Gln584=) c.1785G>A (p.Gln595=) c.1779G>A (p.Gln593=) c.684G>A (p.Gln228=) | |
1 | g.9264245G>C | CA338193684 | H6PD | c.1752G>C (p.Gln584His) c.1785G>C (p.Gln595His) c.1779G>C (p.Gln593His) c.684G>C (p.Gln228His) | dbSNP |
1 | g.9264245G= | CA1152694255 | H6PD | c.1752G= (p.Gln584=) c.1785G= (p.Gln595=) c.1779G= (p.Gln593=) c.684G= (p.Gln228=) | |
1 | g.9264245G>T | CA338193685 | H6PD | c.1752G>T (p.Gln584His) c.1785G>T (p.Gln595His) c.1779G>T (p.Gln593His) c.684G>T (p.Gln228His) | gnomAD v4 |
1 | g.9264246T>A | CA338193688 | H6PD | c.1753T>A (p.Phe585Ile) c.1786T>A (p.Phe596Ile) c.1780T>A (p.Phe594Ile) c.685T>A (p.Phe229Ile) | |
1 | g.9264246T>C | CA338193687 | H6PD | c.1753T>C (p.Phe585Leu) c.1786T>C (p.Phe596Leu) c.1780T>C (p.Phe594Leu) c.685T>C (p.Phe229Leu) | |
1 | g.9264246T>G | CA338193686 | H6PD | c.1753T>G (p.Phe585Val) c.1786T>G (p.Phe596Val) c.1780T>G (p.Phe594Val) c.685T>G (p.Phe229Val) | |
1 | g.9264247T>A | CA338193689 | H6PD | c.1754T>A (p.Phe585Tyr) c.1787T>A (p.Phe596Tyr) c.1781T>A (p.Phe594Tyr) c.686T>A (p.Phe229Tyr) | |
1 | g.9264247T>C | CA338193690 | H6PD | c.1754T>C (p.Phe585Ser) c.1787T>C (p.Phe596Ser) c.1781T>C (p.Phe594Ser) c.686T>C (p.Phe229Ser) | |
1 | g.9264247T>G | CA338193691 | H6PD | c.1754T>G (p.Phe585Cys) c.1787T>G (p.Phe596Cys) c.1781T>G (p.Phe594Cys) c.686T>G (p.Phe229Cys) | |
1 | g.9264248C>A | CA338193692 | H6PD | c.1755C>A (p.Phe585Leu) c.1788C>A (p.Phe596Leu) c.1782C>A (p.Phe594Leu) c.687C>A (p.Phe229Leu) | gnomAD v4 |
1 | g.9264248C>G | CA338193693 | H6PD | c.1755C>G (p.Phe585Leu) c.1788C>G (p.Phe596Leu) c.1782C>G (p.Phe594Leu) c.687C>G (p.Phe229Leu) | |
1 | g.9264248C>T | CA416031681 | H6PD | c.1755C>T (p.Phe585=) c.1788C>T (p.Phe596=) c.1782C>T (p.Phe594=) c.687C>T (p.Phe229=) | |
1 | g.9264249C>A | CA338193694 | H6PD | c.1756C>A (p.His586Asn) c.1789C>A (p.His597Asn) c.1783C>A (p.His595Asn) c.688C>A (p.His230Asn) | |
1 | g.9264249C= | CA1152694262 | H6PD | c.1756C= (p.His586=) c.1789C= (p.His597=) c.1783C= (p.His595=) c.688C= (p.His230=) | |
1 | g.9264249C>G | CA338193695 | H6PD | c.1756C>G (p.His586Asp) c.1789C>G (p.His597Asp) c.1783C>G (p.His595Asp) c.688C>G (p.His230Asp) | |
1 | g.9264249C>T | CA338193696 | H6PD | c.1756C>T (p.His586Tyr) c.1789C>T (p.His597Tyr) c.1783C>T (p.His595Tyr) c.688C>T (p.His230Tyr) | dbSNP |
1 | g.9264250A>C | CA338193697 | H6PD | c.1757A>C (p.His586Pro) c.1790A>C (p.His597Pro) c.1784A>C (p.His595Pro) c.689A>C (p.His230Pro) | |
1 | g.9264250A>G | CA338193698 | H6PD | c.1757A>G (p.His586Arg) c.1790A>G (p.His597Arg) c.1784A>G (p.His595Arg) c.689A>G (p.His230Arg) | |
1 | g.9264250A>T | CA338193699 | H6PD | c.1757A>T (p.His586Leu) c.1790A>T (p.His597Leu) c.1784A>T (p.His595Leu) c.689A>T (p.His230Leu) | |
1 | g.9264251C>A | CA338193700 | H6PD | c.1758C>A (p.His586Gln) c.1791C>A (p.His597Gln) c.1785C>A (p.His595Gln) c.690C>A (p.His230Gln) | |
1 | g.9264251C= | CA1152694285 | H6PD | c.1758C= (p.His586=) c.1791C= (p.His597=) c.1785C= (p.His595=) c.690C= (p.His230=) | |
1 | g.9264251C>G | CA338193701 | H6PD | c.1758C>G (p.His586Gln) c.1791C>G (p.His597Gln) c.1785C>G (p.His595Gln) c.690C>G (p.His230Gln) | |
1 | g.9264251C>T | CA416031688 | H6PD | c.1758C>T (p.His586=) c.1791C>T (p.His597=) c.1785C>T (p.His595=) c.690C>T (p.His230=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264252C>A | CA338193703 | H6PD | c.1759C>A (p.Leu587Met) c.1792C>A (p.Leu598Met) c.1786C>A (p.Leu596Met) c.691C>A (p.Leu231Met) | |
1 | g.9264252C= | CA1152694289 | H6PD | c.1759C= (p.Leu587=) c.1792C= (p.Leu598=) c.1786C= (p.Leu596=) c.691C= (p.Leu231=) | |
1 | g.9264252C>G | CA338193702 | H6PD | c.1759C>G (p.Leu587Val) c.1792C>G (p.Leu598Val) c.1786C>G (p.Leu596Val) c.691C>G (p.Leu231Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264252C>T | CA416031690 | H6PD | c.1759C>T (p.Leu587=) c.1792C>T (p.Leu598=) c.1786C>T (p.Leu596=) c.691C>T (p.Leu231=) | |
1 | g.9264253T>A | CA338193704 | H6PD | c.1760T>A (p.Leu587Gln) c.1793T>A (p.Leu598Gln) c.1787T>A (p.Leu596Gln) c.692T>A (p.Leu231Gln) | |
1 | g.9264253T>C | CA338193705 | H6PD | c.1760T>C (p.Leu587Pro) c.1793T>C (p.Leu598Pro) c.1787T>C (p.Leu596Pro) c.692T>C (p.Leu231Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264253T>G | CA338193706 | H6PD | c.1760T>G (p.Leu587Arg) c.1793T>G (p.Leu598Arg) c.1787T>G (p.Leu596Arg) c.692T>G (p.Leu231Arg) | |
1 | g.9264253T= | CA1152694292 | H6PD | c.1760T= (p.Leu587=) c.1793T= (p.Leu598=) c.1787T= (p.Leu596=) c.692T= (p.Leu231=) | |
1 | g.9264257_9264283dup | CA2643115499 | H6PD | c.1764_1790dup (p.Ala597_Leu598insLeuSerGlyGlySerSerProValAla) c.1797_1823dup (p.Ala608_Leu609insLeuSerGlyGlySerSerProValAla) c.1791_1817dup (p.Ala606_Leu607insLeuSerGlyGlySerSerProValAla) c.696_722dup (p.Ala241_Leu242insLeuSerGlyGlySerSerProValAla) | gnomAD v4 |
1 | g.9264254G>A | CA416031695 | H6PD | c.1761G>A (p.Leu587=) c.1794G>A (p.Leu598=) c.1788G>A (p.Leu596=) c.693G>A (p.Leu231=) | |
1 | g.9264254G>C | CA416031697 | H6PD | c.1761G>C (p.Leu587=) c.1794G>C (p.Leu598=) c.1788G>C (p.Leu596=) c.693G>C (p.Leu231=) | |
1 | g.9264254G>T | CA416031698 | H6PD | c.1761G>T (p.Leu587=) c.1794G>T (p.Leu598=) c.1788G>T (p.Leu596=) c.693G>T (p.Leu231=) | |
1 | g.9264255G>A | CA338193707 | H6PD | c.1762G>A (p.Ala588Thr) c.1795G>A (p.Ala599Thr) c.1789G>A (p.Ala597Thr) c.694G>A (p.Ala232Thr) | gnomAD v4 |
1 | g.9264255G>C | CA338193708 | H6PD | c.1762G>C (p.Ala588Pro) c.1795G>C (p.Ala599Pro) c.1789G>C (p.Ala597Pro) c.694G>C (p.Ala232Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264255G= | CA1152694295 | H6PD | c.1762G= (p.Ala588=) c.1795G= (p.Ala599=) c.1789G= (p.Ala597=) c.694G= (p.Ala232=) | |
1 | g.9264255G>T | CA338193709 | H6PD | c.1762G>T (p.Ala588Ser) c.1795G>T (p.Ala599Ser) c.1789G>T (p.Ala597Ser) c.694G>T (p.Ala232Ser) | |
1 | g.9264256C>A | CA338193712 | H6PD | c.1763C>A (p.Ala588Glu) c.1796C>A (p.Ala599Glu) c.1790C>A (p.Ala597Glu) c.695C>A (p.Ala232Glu) | |
1 | g.9264256C= | CA1152694300 | H6PD | c.1763C= (p.Ala588=) c.1796C= (p.Ala599=) c.1790C= (p.Ala597=) c.695C= (p.Ala232=) | |
1 | g.9264256C>G | CA338193710 | H6PD | c.1763C>G (p.Ala588Gly) c.1796C>G (p.Ala599Gly) c.1790C>G (p.Ala597Gly) c.695C>G (p.Ala232Gly) | |
1 | g.9264256C>T | CA338193711 | H6PD | c.1763C>T (p.Ala588Val) c.1796C>T (p.Ala599Val) c.1790C>T (p.Ala597Val) c.695C>T (p.Ala232Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264257A= | CA1145939257 | H6PD | c.1764A= (p.Ala588=) c.1797A= (p.Ala599=) c.1791A= (p.Ala597=) c.696A= (p.Ala232=) | |
1 | g.9264257A>C | CA575405 | H6PD | c.1764A>C (p.Ala588=) c.1797A>C (p.Ala599=) c.1791A>C (p.Ala597=) c.696A>C (p.Ala232=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264257A>G | CA416031832 | H6PD | c.1764A>G (p.Ala588=) c.1797A>G (p.Ala599=) c.1791A>G (p.Ala597=) c.696A>G (p.Ala232=) | |
1 | g.9264257A>T | CA575406 | H6PD | c.1764A>T (p.Ala588=) c.1797A>T (p.Ala599=) c.1791A>T (p.Ala597=) c.696A>T (p.Ala232=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264258C>A | CA338193713 | H6PD | c.1765C>A (p.Leu589Met) c.1798C>A (p.Leu600Met) c.1792C>A (p.Leu598Met) c.697C>A (p.Leu233Met) | gnomAD v4 |
1 | g.9264258C= | CA1152694311 | H6PD | c.1765C= (p.Leu589=) c.1798C= (p.Leu600=) c.1792C= (p.Leu598=) c.697C= (p.Leu233=) | |
1 | g.9264258C>G | CA338193714 | H6PD | c.1765C>G (p.Leu589Val) c.1798C>G (p.Leu600Val) c.1792C>G (p.Leu598Val) c.697C>G (p.Leu233Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9264258C>T | CA17751409 | H6PD | c.1765C>T (p.Leu589=) c.1798C>T (p.Leu600=) c.1792C>T (p.Leu598=) c.697C>T (p.Leu233=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264259T>A | CA338193717 | H6PD | c.1766T>A (p.Leu589Gln) c.1799T>A (p.Leu600Gln) c.1793T>A (p.Leu598Gln) c.698T>A (p.Leu233Gln) | |
1 | g.9264259T>C | CA338193715 | H6PD | c.1766T>C (p.Leu589Pro) c.1799T>C (p.Leu600Pro) c.1793T>C (p.Leu598Pro) c.698T>C (p.Leu233Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264259T>G | CA338193716 | H6PD | c.1766T>G (p.Leu589Arg) c.1799T>G (p.Leu600Arg) c.1793T>G (p.Leu598Arg) c.698T>G (p.Leu233Arg) | |
1 | g.9264259T= | CA1152694319 | H6PD | c.1766T= (p.Leu589=) c.1799T= (p.Leu600=) c.1793T= (p.Leu598=) c.698T= (p.Leu233=) | |
1 | g.9264260G>A | CA416031839 | H6PD | c.1767G>A (p.Leu589=) c.1800G>A (p.Leu600=) c.1794G>A (p.Leu598=) c.699G>A (p.Leu233=) | |
1 | g.9264260G>C | CA416031838 | H6PD | c.1767G>C (p.Leu589=) c.1800G>C (p.Leu600=) c.1794G>C (p.Leu598=) c.699G>C (p.Leu233=) | dbSNP |
1 | g.9264260G= | CA1152694324 | H6PD | c.1767G= (p.Leu589=) c.1800G= (p.Leu600=) c.1794G= (p.Leu598=) c.699G= (p.Leu233=) | |
1 | g.9264260G>T | CA416031837 | H6PD | c.1767G>T (p.Leu589=) c.1800G>T (p.Leu600=) c.1794G>T (p.Leu598=) c.699G>T (p.Leu233=) | |
1 | g.9264261T>A | CA338193718 | H6PD | c.1768T>A (p.Ser590Thr) c.1801T>A (p.Ser601Thr) c.1795T>A (p.Ser599Thr) c.700T>A (p.Ser234Thr) | |
1 | g.9264261T>C | CA575407 | H6PD | c.1768T>C (p.Ser590Pro) c.1801T>C (p.Ser601Pro) c.1795T>C (p.Ser599Pro) c.700T>C (p.Ser234Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264261T>G | CA338193719 | H6PD | c.1768T>G (p.Ser590Ala) c.1801T>G (p.Ser601Ala) c.1795T>G (p.Ser599Ala) c.700T>G (p.Ser234Ala) | |
1 | g.9264261T= | CA1149144071 | H6PD | c.1768T= (p.Ser590=) c.1801T= (p.Ser601=) c.1795T= (p.Ser599=) c.700T= (p.Ser234=) | |
1 | g.9264262C>A | CA338193720 | H6PD | c.1769C>A (p.Ser590Ter) c.1802C>A (p.Ser601Ter) c.1796C>A (p.Ser599Ter) c.701C>A (p.Ser234Ter) | dbSNP gnomAD v4 |
1 | g.9264262C= | CA1152694333 | H6PD | c.1769C= (p.Ser590=) c.1802C= (p.Ser601=) c.1796C= (p.Ser599=) c.701C= (p.Ser234=) | |
1 | g.9264262C>G | CA338193721 | H6PD | c.1769C>G (p.Ser590Trp) c.1802C>G (p.Ser601Trp) c.1796C>G (p.Ser599Trp) c.701C>G (p.Ser234Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264262C>T | CA575409 | H6PD | c.1769C>T (p.Ser590Leu) c.1802C>T (p.Ser601Leu) c.1796C>T (p.Ser599Leu) c.701C>T (p.Ser234Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264263G>A | CA575410 | H6PD | c.1770G>A (p.Ser590=) c.1803G>A (p.Ser601=) c.1797G>A (p.Ser599=) c.702G>A (p.Ser234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264263G>C | CA416031842 | H6PD | c.1770G>C (p.Ser590=) c.1803G>C (p.Ser601=) c.1797G>C (p.Ser599=) c.702G>C (p.Ser234=) | |
1 | g.9264263G= | CA1142327126 | H6PD | c.1770G= (p.Ser590=) c.1803G= (p.Ser601=) c.1797G= (p.Ser599=) c.702G= (p.Ser234=) | |
1 | g.9264263G>T | CA575411 | H6PD | c.1770G>T (p.Ser590=) c.1803G>T (p.Ser601=) c.1797G>T (p.Ser599=) c.702G>T (p.Ser234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264263_9264268delinsGGGGGG | CA1149145066 | H6PD | c.1770_1775delinsGGGGGG (p.Ser590=) c.1803_1808delinsGGGGGG (p.Ser601=) c.1797_1802delinsGGGGGG (p.Ser599=) c.702_707delinsGGGGGG (p.Ser234=) | |
1 | g.9264268dup | CA575408 | H6PD | c.1775dup (p.Ser593LeufsTer28) c.1808dup (p.Ser604LeufsTer28) c.1802dup (p.Ser602LeufsTer28) c.707dup (p.Ser237LeufsTer28) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9264268del | CA2643115500 | H6PD | c.1775del (p.Gly592AlafsTer?) c.1808del (p.Gly603AlafsTer?) c.1802del (p.Gly601AlafsTer?) c.707del (p.Gly236AlafsTer?) | gnomAD v4 |
1 | g.9264264G>A | CA17751423 | H6PD | c.1771G>A (p.Gly591Arg) c.1804G>A (p.Gly602Arg) c.1798G>A (p.Gly600Arg) c.703G>A (p.Gly235Arg) | dbSNP gnomAD v4 |
1 | g.9264264G>C | CA338193722 | H6PD | c.1771G>C (p.Gly591Arg) c.1804G>C (p.Gly602Arg) c.1798G>C (p.Gly600Arg) c.703G>C (p.Gly235Arg) | gnomAD v4 |
1 | g.9264264G= | CA1152694364 | H6PD | c.1771G= (p.Gly591=) c.1804G= (p.Gly602=) c.1798G= (p.Gly600=) c.703G= (p.Gly235=) | |
1 | g.9264264G>T | CA575412 | H6PD | c.1771G>T (p.Gly591Trp) c.1804G>T (p.Gly602Trp) c.1798G>T (p.Gly600Trp) c.703G>T (p.Gly235Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264265G>A | CA338193723 | H6PD | c.1772G>A (p.Gly591Glu) c.1805G>A (p.Gly602Glu) c.1799G>A (p.Gly600Glu) c.704G>A (p.Gly235Glu) | dbSNP gnomAD v4 |
1 | g.9264265G>C | CA338193725 | H6PD | c.1772G>C (p.Gly591Ala) c.1805G>C (p.Gly602Ala) c.1799G>C (p.Gly600Ala) c.704G>C (p.Gly235Ala) | |
1 | g.9264265G= | CA1152694373 | H6PD | c.1772G= (p.Gly591=) c.1805G= (p.Gly602=) c.1799G= (p.Gly600=) c.704G= (p.Gly235=) | |
1 | g.9264265G>T | CA338193724 | H6PD | c.1772G>T (p.Gly591Val) c.1805G>T (p.Gly602Val) c.1799G>T (p.Gly600Val) c.704G>T (p.Gly235Val) |