Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
1 | g.9264156C>A | CA338193509 | H6PD | c.1663C>A (p.Leu555Met) c.1696C>A (p.Leu566Met) c.1690C>A (p.Leu564Met) c.595C>A (p.Leu199Met) | |
1 | g.9264156C>G | CA338193510 | H6PD | c.1663C>G (p.Leu555Val) c.1696C>G (p.Leu566Val) c.1690C>G (p.Leu564Val) c.595C>G (p.Leu199Val) | |
1 | g.9264156C>T | CA416031340 | H6PD | c.1663C>T (p.Leu555=) c.1696C>T (p.Leu566=) c.1690C>T (p.Leu564=) c.595C>T (p.Leu199=) | COSMIC |
1 | g.9264157T>A | CA338193511 | H6PD | c.1664T>A (p.Leu555Gln) c.1697T>A (p.Leu566Gln) c.1691T>A (p.Leu564Gln) c.596T>A (p.Leu199Gln) | |
1 | g.9264157T>C | CA338193513 | H6PD | c.1664T>C (p.Leu555Pro) c.1697T>C (p.Leu566Pro) c.1691T>C (p.Leu564Pro) c.596T>C (p.Leu199Pro) | gnomAD v4 |
1 | g.9264157T>G | CA338193512 | H6PD | c.1664T>G (p.Leu555Arg) c.1697T>G (p.Leu566Arg) c.1691T>G (p.Leu564Arg) c.596T>G (p.Leu199Arg) | |
1 | g.9264158G>A | CA416031341 | H6PD | c.1665G>A (p.Leu555=) c.1698G>A (p.Leu566=) c.1692G>A (p.Leu564=) c.597G>A (p.Leu199=) | gnomAD v4 |
1 | g.9264158G>C | CA416031342 | H6PD | c.1665G>C (p.Leu555=) c.1698G>C (p.Leu566=) c.1692G>C (p.Leu564=) c.597G>C (p.Leu199=) | |
1 | g.9264158G>T | CA416031343 | H6PD | c.1665G>T (p.Leu555=) c.1698G>T (p.Leu566=) c.1692G>T (p.Leu564=) c.597G>T (p.Leu199=) | |
1 | g.9264159G>A | CA338193514 | H6PD | c.1666G>A (p.Val556Ile) c.1699G>A (p.Val567Ile) c.1693G>A (p.Val565Ile) c.598G>A (p.Val200Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9264159G>C | CA338193516 | H6PD | c.1666G>C (p.Val556Leu) c.1699G>C (p.Val567Leu) c.1693G>C (p.Val565Leu) c.598G>C (p.Val200Leu) | |
1 | g.9264159G= | CA1152693942 | H6PD | c.1666G= (p.Val556=) c.1699G= (p.Val567=) c.1693G= (p.Val565=) c.598G= (p.Val200=) | |
1 | g.9264159G>T | CA338193515 | H6PD | c.1666G>T (p.Val556Phe) c.1699G>T (p.Val567Phe) c.1693G>T (p.Val565Phe) c.598G>T (p.Val200Phe) | |
1 | g.9264160T>A | CA338193517 | H6PD | c.1667T>A (p.Val556Asp) c.1700T>A (p.Val567Asp) c.1694T>A (p.Val565Asp) c.599T>A (p.Val200Asp) | |
1 | g.9264160T>C | CA338193518 | H6PD | c.1667T>C (p.Val556Ala) c.1700T>C (p.Val567Ala) c.1694T>C (p.Val565Ala) c.599T>C (p.Val200Ala) | gnomAD v4 |
1 | g.9264160T>G | CA338193519 | H6PD | c.1667T>G (p.Val556Gly) c.1700T>G (p.Val567Gly) c.1694T>G (p.Val565Gly) c.599T>G (p.Val200Gly) | |
1 | g.9264161C>A | CA416031349 | H6PD | c.1668C>A (p.Val556=) c.1701C>A (p.Val567=) c.1695C>A (p.Val565=) c.600C>A (p.Val200=) | |
1 | g.9264161C= | CA1152693952 | H6PD | c.1668C= (p.Val556=) c.1701C= (p.Val567=) c.1695C= (p.Val565=) c.600C= (p.Val200=) | |
1 | g.9264161C>G | CA416031350 | H6PD | c.1668C>G (p.Val556=) c.1701C>G (p.Val567=) c.1695C>G (p.Val565=) c.600C>G (p.Val200=) | |
1 | g.9264161C>T | CA416031351 | H6PD | c.1668C>T (p.Val556=) c.1701C>T (p.Val567=) c.1695C>T (p.Val565=) c.600C>T (p.Val200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9264162T>A | CA338193520 | H6PD | c.1669T>A (p.Ser557Thr) c.1702T>A (p.Ser568Thr) c.1696T>A (p.Ser566Thr) c.601T>A (p.Ser201Thr) | |
1 | g.9264162T>C | CA338193521 | H6PD | c.1669T>C (p.Ser557Pro) c.1702T>C (p.Ser568Pro) c.1696T>C (p.Ser566Pro) c.601T>C (p.Ser201Pro) | |
1 | g.9264162T>G | CA338193522 | H6PD | c.1669T>G (p.Ser557Ala) c.1702T>G (p.Ser568Ala) c.1696T>G (p.Ser566Ala) c.601T>G (p.Ser201Ala) | |
1 | g.9264163C>A | CA338193523 | H6PD | c.1670C>A (p.Ser557Tyr) c.1703C>A (p.Ser568Tyr) c.1697C>A (p.Ser566Tyr) c.602C>A (p.Ser201Tyr) | |
1 | g.9264163C>G | CA338193524 | H6PD | c.1670C>G (p.Ser557Cys) c.1703C>G (p.Ser568Cys) c.1697C>G (p.Ser566Cys) c.602C>G (p.Ser201Cys) | |
1 | g.9264163C>T | CA338193525 | H6PD | c.1670C>T (p.Ser557Phe) c.1703C>T (p.Ser568Phe) c.1697C>T (p.Ser566Phe) c.602C>T (p.Ser201Phe) | COSMIC |
1 | g.9264164C>A | CA416031365 | H6PD | c.1671C>A (p.Ser557=) c.1704C>A (p.Ser568=) c.1698C>A (p.Ser566=) c.603C>A (p.Ser201=) | |
1 | g.9264164C= | CA1152693960 | H6PD | c.1671C= (p.Ser557=) c.1704C= (p.Ser568=) c.1698C= (p.Ser566=) c.603C= (p.Ser201=) | |
1 | g.9264164C>G | CA416031369 | H6PD | c.1671C>G (p.Ser557=) c.1704C>G (p.Ser568=) c.1698C>G (p.Ser566=) c.603C>G (p.Ser201=) | |
1 | g.9264164C>T | CA575375 | H6PD | c.1671C>T (p.Ser557=) c.1704C>T (p.Ser568=) c.1698C>T (p.Ser566=) c.603C>T (p.Ser201=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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) |