Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.99420704C>A | CA357497708 | ADH7 | c.654G>T (p.Arg218Ser) c.690G>T (p.Arg230Ser) c.714G>T (p.Arg238Ser) c.483G>T (p.Arg161Ser) | |
4 | g.99420704C= | CA1479994348 | ADH7 | c.654G= (p.Arg218=) c.690G= (p.Arg230=) c.714G= (p.Arg238=) c.483G= (p.Arg161=) | |
4 | g.99420704C>G | CA357497709 | ADH7 | c.654G>C (p.Arg218Ser) c.690G>C (p.Arg230Ser) c.714G>C (p.Arg238Ser) c.483G>C (p.Arg161Ser) | gnomAD v4 |
4 | g.99420704C>T | CA3020761 | ADH7 | c.654G>A (p.Arg218=) c.690G>A (p.Arg230=) c.714G>A (p.Arg238=) c.483G>A (p.Arg161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99420705C>A | CA357497710 | ADH7 | c.653G>T (p.Arg218Met) c.689G>T (p.Arg230Met) c.713G>T (p.Arg238Met) c.482G>T (p.Arg161Met) | |
4 | g.99420705C= | CA1479994352 | ADH7 | c.653G= (p.Arg218=) c.689G= (p.Arg230=) c.713G= (p.Arg238=) c.482G= (p.Arg161=) | |
4 | g.99420705C>G | CA357497711 | ADH7 | c.653G>C (p.Arg218Thr) c.689G>C (p.Arg230Thr) c.713G>C (p.Arg238Thr) c.482G>C (p.Arg161Thr) | |
4 | g.99420705C>T | CA357497712 | ADH7 | c.653G>A (p.Arg218Lys) c.689G>A (p.Arg230Lys) c.713G>A (p.Arg238Lys) c.482G>A (p.Arg161Lys) | dbSNP gnomAD v4 |
4 | g.99420706T>A | CA357497713 | ADH7 | c.652A>T (p.Arg218Trp) c.688A>T (p.Arg230Trp) c.712A>T (p.Arg238Trp) c.481A>T (p.Arg161Trp) | |
4 | g.99420706T>C | CA357497714 | ADH7 | c.652A>G (p.Arg218Gly) c.688A>G (p.Arg230Gly) c.712A>G (p.Arg238Gly) c.481A>G (p.Arg161Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99420706T>G | CA440506450 | ADH7 | c.652A>C (p.Arg218=) c.688A>C (p.Arg230=) c.712A>C (p.Arg238=) c.481A>C (p.Arg161=) | |
4 | g.99420706T= | CA1479994355 | ADH7 | c.652A= (p.Arg218=) c.688A= (p.Arg230=) c.712A= (p.Arg238=) c.481A= (p.Arg161=) | |
4 | g.99420707A= | CA1479994357 | ADH7 | c.651T= (p.Ser217=) c.687T= (p.Ser229=) c.711T= (p.Ser237=) c.480T= (p.Ser160=) | |
4 | g.99420707A>C | CA440506451 | ADH7 | c.651T>G (p.Ser217=) c.687T>G (p.Ser229=) c.711T>G (p.Ser237=) c.480T>G (p.Ser160=) | |
4 | g.99420707A>G | CA440506452 | ADH7 | c.651T>C (p.Ser217=) c.687T>C (p.Ser229=) c.711T>C (p.Ser237=) c.480T>C (p.Ser160=) | dbSNP |
4 | g.99420707A>T | CA440506453 | ADH7 | c.651T>A (p.Ser217=) c.687T>A (p.Ser229=) c.711T>A (p.Ser237=) c.480T>A (p.Ser160=) | dbSNP |
4 | g.99420708G>A | CA357497717 | ADH7 | c.650C>T (p.Ser217Phe) c.686C>T (p.Ser229Phe) c.710C>T (p.Ser237Phe) c.479C>T (p.Ser160Phe) | |
4 | g.99420708G>C | CA357497716 | ADH7 | c.650C>G (p.Ser217Cys) c.686C>G (p.Ser229Cys) c.710C>G (p.Ser237Cys) c.479C>G (p.Ser160Cys) | gnomAD v4 |
4 | g.99420708G>T | CA357497715 | ADH7 | c.650C>A (p.Ser217Tyr) c.686C>A (p.Ser229Tyr) c.710C>A (p.Ser237Tyr) c.479C>A (p.Ser160Tyr) | |
4 | g.99420709A= | CA1479994360 | ADH7 | c.649T= (p.Ser217=) c.685T= (p.Ser229=) c.709T= (p.Ser237=) c.478T= (p.Ser160=) | |
4 | g.99420709A>C | CA357497718 | ADH7 | c.649T>G (p.Ser217Ala) c.685T>G (p.Ser229Ala) c.709T>G (p.Ser237Ala) c.478T>G (p.Ser160Ala) | |
4 | g.99420709A>G | CA357497719 | ADH7 | c.649T>C (p.Ser217Pro) c.685T>C (p.Ser229Pro) c.709T>C (p.Ser237Pro) c.478T>C (p.Ser160Pro) | |
4 | g.99420709A>T | CA357497720 | ADH7 | c.649T>A (p.Ser217Thr) c.685T>A (p.Ser229Thr) c.709T>A (p.Ser237Thr) c.478T>A (p.Ser160Thr) | dbSNP |
4 | g.99420710T>A | CA440506454 | ADH7 | c.648A>T (p.Ala216=) c.684A>T (p.Ala228=) c.708A>T (p.Ala236=) c.477A>T (p.Ala159=) | |
4 | g.99420710T>C | CA440506456 | ADH7 | c.648A>G (p.Ala216=) c.684A>G (p.Ala228=) c.708A>G (p.Ala236=) c.477A>G (p.Ala159=) | gnomAD v4 |
4 | g.99420710T>G | CA440506455 | ADH7 | c.648A>C (p.Ala216=) c.684A>C (p.Ala228=) c.708A>C (p.Ala236=) c.477A>C (p.Ala159=) | |
4 | g.99420711G>A | CA357497721 | ADH7 | c.647C>T (p.Ala216Val) c.683C>T (p.Ala228Val) c.707C>T (p.Ala236Val) c.476C>T (p.Ala159Val) | |
4 | g.99420711G>C | CA357497722 | ADH7 | c.647C>G (p.Ala216Gly) c.683C>G (p.Ala228Gly) c.707C>G (p.Ala236Gly) c.476C>G (p.Ala159Gly) | |
4 | g.99420711G>T | CA357497723 | ADH7 | c.647C>A (p.Ala216Glu) c.683C>A (p.Ala228Glu) c.707C>A (p.Ala236Glu) c.476C>A (p.Ala159Glu) | gnomAD v4 |
4 | g.99420712C>A | CA357497724 | ADH7 | c.646G>T (p.Ala216Ser) c.682G>T (p.Ala228Ser) c.706G>T (p.Ala236Ser) c.475G>T (p.Ala159Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420712C= | CA1479994363 | ADH7 | c.646G= (p.Ala216=) c.682G= (p.Ala228=) c.706G= (p.Ala236=) c.475G= (p.Ala159=) | |
4 | g.99420712C>G | CA357497725 | ADH7 | c.646G>C (p.Ala216Pro) c.682G>C (p.Ala228Pro) c.706G>C (p.Ala236Pro) c.475G>C (p.Ala159Pro) | |
4 | g.99420712C>T | CA3020762 | ADH7 | c.646G>A (p.Ala216Thr) c.682G>A (p.Ala228Thr) c.706G>A (p.Ala236Thr) c.475G>A (p.Ala159Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99420713A>C | CA440506457 | ADH7 | c.645T>G (p.Gly215=) c.681T>G (p.Gly227=) c.705T>G (p.Gly235=) c.474T>G (p.Gly158=) | |
4 | g.99420713A>G | CA440506458 | ADH7 | c.645T>C (p.Gly215=) c.681T>C (p.Gly227=) c.705T>C (p.Gly235=) c.474T>C (p.Gly158=) | |
4 | g.99420713A>T | CA440506459 | ADH7 | c.645T>A (p.Gly215=) c.681T>A (p.Gly227=) c.705T>A (p.Gly235=) c.474T>A (p.Gly158=) | |
4 | g.99420714C>A | CA357497726 | ADH7 | c.644G>T (p.Gly215Val) c.680G>T (p.Gly227Val) c.704G>T (p.Gly235Val) c.473G>T (p.Gly158Val) | |
4 | g.99420714C>G | CA357497727 | ADH7 | c.644G>C (p.Gly215Ala) c.680G>C (p.Gly227Ala) c.704G>C (p.Gly235Ala) c.473G>C (p.Gly158Ala) | gnomAD v4 |
4 | g.99420714C>T | CA357497728 | ADH7 | c.644G>A (p.Gly215Asp) c.680G>A (p.Gly227Asp) c.704G>A (p.Gly235Asp) c.473G>A (p.Gly158Asp) | |
4 | g.99420715C>A | CA357497731 | ADH7 | c.643G>T (p.Gly215Cys) c.679G>T (p.Gly227Cys) c.703G>T (p.Gly235Cys) c.472G>T (p.Gly158Cys) | |
4 | g.99420715C= | CA1479994367 | ADH7 | c.643G= (p.Gly215=) c.679G= (p.Gly227=) c.703G= (p.Gly235=) c.472G= (p.Gly158=) | |
4 | g.99420715C>G | CA357497730 | ADH7 | c.643G>C (p.Gly215Arg) c.679G>C (p.Gly227Arg) c.703G>C (p.Gly235Arg) c.472G>C (p.Gly158Arg) | |
4 | g.99420715C>T | CA357497729 | ADH7 | c.643G>A (p.Gly215Ser) c.679G>A (p.Gly227Ser) c.703G>A (p.Gly235Ser) c.472G>A (p.Gly158Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99420716A>C | CA440506460 | ADH7 | c.642T>G (p.Ala214=) c.678T>G (p.Ala226=) c.702T>G (p.Ala234=) c.471T>G (p.Ala157=) | |
4 | g.99420716A>G | CA440506461 | ADH7 | c.642T>C (p.Ala214=) c.678T>C (p.Ala226=) c.702T>C (p.Ala234=) c.471T>C (p.Ala157=) | gnomAD v4 |
4 | g.99420716A>T | CA440506462 | ADH7 | c.642T>A (p.Ala214=) c.678T>A (p.Ala226=) c.702T>A (p.Ala234=) c.471T>A (p.Ala157=) | |
4 | g.99420717G>A | CA357497732 | ADH7 | c.641C>T (p.Ala214Val) c.677C>T (p.Ala226Val) c.701C>T (p.Ala234Val) c.470C>T (p.Ala157Val) | |
4 | g.99420717G>C | CA357497734 | ADH7 | c.641C>G (p.Ala214Gly) c.677C>G (p.Ala226Gly) c.701C>G (p.Ala234Gly) c.470C>G (p.Ala157Gly) | |
4 | g.99420717G>T | CA357497733 | ADH7 | c.641C>A (p.Ala214Asp) c.677C>A (p.Ala226Asp) c.701C>A (p.Ala234Asp) c.470C>A (p.Ala157Asp) | gnomAD v4 |
4 | g.99420718C>A | CA357497735 | ADH7 | c.640G>T (p.Ala214Ser) c.676G>T (p.Ala226Ser) c.700G>T (p.Ala234Ser) c.469G>T (p.Ala157Ser) |