Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.67610438G>A | CA381536712 | NDUFV1 | c.568G>A (p.Gly190Ser) c.547G>A (p.Gly183Ser) n.310G>A n.427G>A c.532G>A (p.Gly178Ser) c.541G>A (p.Gly181Ser) c.265G>A (p.Gly89Ser) c.46G>A (p.Gly16Ser) | gnomAD v4 |
11 | g.67610438G>C | CA381536714 | NDUFV1 | c.568G>C (p.Gly190Arg) c.547G>C (p.Gly183Arg) n.310G>C n.427G>C c.532G>C (p.Gly178Arg) c.541G>C (p.Gly181Arg) c.265G>C (p.Gly89Arg) c.46G>C (p.Gly16Arg) | |
11 | g.67610438G>T | CA381536716 | NDUFV1 | c.568G>T (p.Gly190Cys) c.547G>T (p.Gly183Cys) n.310G>T n.427G>T c.532G>T (p.Gly178Cys) c.541G>T (p.Gly181Cys) c.265G>T (p.Gly89Cys) c.46G>T (p.Gly16Cys) | |
11 | g.67610439G>A | CA381536720 | NDUFV1 | c.569G>A (p.Gly190Asp) c.548G>A (p.Gly183Asp) n.311G>A n.428G>A c.533G>A (p.Gly178Asp) c.542G>A (p.Gly181Asp) c.266G>A (p.Gly89Asp) c.47G>A (p.Gly16Asp) | |
11 | g.67610439G>C | CA381536723 | NDUFV1 | c.569G>C (p.Gly190Ala) c.548G>C (p.Gly183Ala) n.311G>C n.428G>C c.533G>C (p.Gly178Ala) c.542G>C (p.Gly181Ala) c.266G>C (p.Gly89Ala) c.47G>C (p.Gly16Ala) | |
11 | g.67610439G>T | CA381536718 | NDUFV1 | c.569G>T (p.Gly190Val) c.548G>T (p.Gly183Val) n.311G>T n.428G>T c.533G>T (p.Gly178Val) c.542G>T (p.Gly181Val) c.266G>T (p.Gly89Val) c.47G>T (p.Gly16Val) | |
11 | g.67610440C>A | CA475412372 | NDUFV1 | c.570C>A (p.Gly190=) c.549C>A (p.Gly183=) n.312C>A n.429C>A c.534C>A (p.Gly178=) c.543C>A (p.Gly181=) c.267C>A (p.Gly89=) c.48C>A (p.Gly16=) | |
11 | g.67610440C>G | CA475412374 | NDUFV1 | c.570C>G (p.Gly190=) c.549C>G (p.Gly183=) n.312C>G n.429C>G c.534C>G (p.Gly178=) c.543C>G (p.Gly181=) c.267C>G (p.Gly89=) c.48C>G (p.Gly16=) | |
11 | g.67610440C>T | CA475412375 | NDUFV1 | c.570C>T (p.Gly190=) c.549C>T (p.Gly183=) n.312C>T n.429C>T c.534C>T (p.Gly178=) c.543C>T (p.Gly181=) c.267C>T (p.Gly89=) c.48C>T (p.Gly16=) | |
11 | g.67610441T>A | CA381536725 | NDUFV1 | c.571T>A (p.Tyr191Asn) c.550T>A (p.Tyr184Asn) n.313T>A n.430T>A c.535T>A c.544T>A (p.Tyr182Asn) c.268T>A (p.Tyr90Asn) c.49T>A (p.Tyr17Asn) | |
11 | g.67610441T>C | CA381536727 | NDUFV1 | c.571T>C (p.Tyr191His) c.550T>C (p.Tyr184His) n.313T>C n.430T>C c.535T>C c.544T>C (p.Tyr182His) c.268T>C (p.Tyr90His) c.49T>C (p.Tyr17His) | |
11 | g.67610441T>G | CA381536728 | NDUFV1 | c.571T>G (p.Tyr191Asp) c.550T>G (p.Tyr184Asp) n.313T>G n.430T>G c.535T>G c.544T>G (p.Tyr182Asp) c.268T>G (p.Tyr90Asp) c.49T>G (p.Tyr17Asp) | |
11 | g.67610442A= | CA1980189864 | NDUFV1 | c.572A= (p.Tyr191=) c.551A= (p.Tyr184=) n.314A= n.431A= c.545A= (p.Tyr182=) c.269A= (p.Tyr90=) c.50A= (p.Tyr17=) | |
11 | g.67610442A>C | CA381536731 | NDUFV1 | c.572A>C (p.Tyr191Ser) c.551A>C (p.Tyr184Ser) n.314A>C n.431A>C c.545A>C (p.Tyr182Ser) c.269A>C (p.Tyr90Ser) c.50A>C (p.Tyr17Ser) | |
11 | g.67610442A>G | CA381536733 | NDUFV1 | c.572A>G (p.Tyr191Cys) c.551A>G (p.Tyr184Cys) n.314A>G n.431A>G c.545A>G (p.Tyr182Cys) c.269A>G (p.Tyr90Cys) c.50A>G (p.Tyr17Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610442A>T | CA381536734 | NDUFV1 | c.572A>T (p.Tyr191Phe) c.551A>T (p.Tyr184Phe) n.314A>T n.431A>T c.545A>T (p.Tyr182Phe) c.269A>T (p.Tyr90Phe) c.50A>T (p.Tyr17Phe) | |
11 | g.67610444_67610446del | CA2614647462 | NDUFV1 | c.574_576del (p.Asp192del) c.553_555del (p.Asp185del) n.316_318del n.433_435del c.547_549del (p.Asp183del) c.271_273del (p.Asp91del) c.52_54del (p.Asp18del) | gnomAD v4 |
11 | g.67610443T>A | CA381536736 | NDUFV1 | c.573T>A (p.Tyr191Ter) c.552T>A (p.Tyr184Ter) n.315T>A n.432T>A c.546T>A (p.Tyr182Ter) c.270T>A (p.Tyr90Ter) c.51T>A (p.Tyr17Ter) | |
11 | g.67610443T>C | CA475412392 | NDUFV1 | c.573T>C (p.Tyr191=) c.552T>C (p.Tyr184=) n.315T>C n.432T>C c.546T>C (p.Tyr182=) c.270T>C (p.Tyr90=) c.51T>C (p.Tyr17=) | ClinVar dbSNP |
11 | g.67610443T>G | CA381536738 | NDUFV1 | c.573T>G (p.Tyr191Ter) c.552T>G (p.Tyr184Ter) n.315T>G n.432T>G c.546T>G (p.Tyr182Ter) c.270T>G (p.Tyr90Ter) c.51T>G (p.Tyr17Ter) | |
11 | g.67610443T= | CA1980189869 | NDUFV1 | c.573T= (p.Tyr191=) c.552T= (p.Tyr184=) n.315T= n.432T= c.546T= (p.Tyr182=) c.270T= (p.Tyr90=) c.51T= (p.Tyr17=) | |
11 | g.67610444G>A | CA381536740 | NDUFV1 | c.574G>A (p.Asp192Asn) c.553G>A (p.Asp185Asn) n.316G>A n.433G>A c.547G>A (p.Asp183Asn) c.271G>A (p.Asp91Asn) c.52G>A (p.Asp18Asn) | |
11 | g.67610444G>C | CA381536742 | NDUFV1 | c.574G>C (p.Asp192His) c.553G>C (p.Asp185His) n.316G>C n.433G>C c.547G>C (p.Asp183His) c.271G>C (p.Asp91His) c.52G>C (p.Asp18His) | |
11 | g.67610444G>T | CA381536743 | NDUFV1 | c.574G>T (p.Asp192Tyr) c.553G>T (p.Asp185Tyr) n.316G>T n.433G>T c.547G>T (p.Asp183Tyr) c.271G>T (p.Asp91Tyr) c.52G>T (p.Asp18Tyr) | |
11 | g.67610445A>C | CA381536746 | NDUFV1 | c.575A>C (p.Asp192Ala) c.554A>C (p.Asp185Ala) n.317A>C n.434A>C c.548A>C (p.Asp183Ala) c.272A>C (p.Asp91Ala) c.53A>C (p.Asp18Ala) | |
11 | g.67610445A>G | CA381536747 | NDUFV1 | c.575A>G (p.Asp192Gly) c.554A>G (p.Asp185Gly) n.317A>G n.434A>G c.548A>G (p.Asp183Gly) c.272A>G (p.Asp91Gly) c.53A>G (p.Asp18Gly) | |
11 | g.67610445A>T | CA381536745 | NDUFV1 | c.575A>T (p.Asp192Val) c.554A>T (p.Asp185Val) n.317A>T n.434A>T c.548A>T (p.Asp183Val) c.272A>T (p.Asp91Val) c.53A>T (p.Asp18Val) | |
11 | g.67610446T>A | CA381536748 | NDUFV1 | c.576T>A (p.Asp192Glu) c.555T>A (p.Asp185Glu) n.318T>A n.435T>A c.549T>A (p.Asp183Glu) c.273T>A (p.Asp91Glu) c.54T>A (p.Asp18Glu) | |
11 | g.67610446T>C | CA6143215 | NDUFV1 | c.576T>C (p.Asp192=) c.555T>C (p.Asp185=) n.318T>C n.435T>C c.549T>C (p.Asp183=) c.273T>C (p.Asp91=) c.54T>C (p.Asp18=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610446T>G | CA381536749 | NDUFV1 | c.576T>G (p.Asp192Glu) c.555T>G (p.Asp185Glu) n.318T>G n.435T>G c.549T>G (p.Asp183Glu) c.273T>G (p.Asp91Glu) c.54T>G (p.Asp18Glu) | |
11 | g.67610446T= | CA1980189874 | NDUFV1 | c.576T= (p.Asp192=) c.555T= (p.Asp185=) n.318T= n.435T= c.549T= (p.Asp183=) c.273T= (p.Asp91=) c.54T= (p.Asp18=) | |
11 | g.67610447T>A | CA381536751 | NDUFV1 | c.577T>A (p.Phe193Ile) c.556T>A (p.Phe186Ile) n.319T>A n.436T>A c.550T>A (p.Phe184Ile) c.274T>A (p.Phe92Ile) c.55T>A (p.Phe19Ile) | |
11 | g.67610447T>C | CA381536753 | NDUFV1 | c.577T>C (p.Phe193Leu) c.556T>C (p.Phe186Leu) n.319T>C n.436T>C c.550T>C (p.Phe184Leu) c.274T>C (p.Phe92Leu) c.55T>C (p.Phe19Leu) | |
11 | g.67610447T>G | CA381536755 | NDUFV1 | c.577T>G (p.Phe193Val) c.556T>G (p.Phe186Val) n.319T>G n.436T>G c.550T>G (p.Phe184Val) c.274T>G (p.Phe92Val) c.55T>G (p.Phe19Val) | |
11 | g.67610448T>A | CA381536761 | NDUFV1 | c.578T>A (p.Phe193Tyr) c.557T>A (p.Phe186Tyr) n.320T>A n.437T>A c.551T>A (p.Phe184Tyr) c.275T>A (p.Phe92Tyr) c.56T>A (p.Phe19Tyr) | |
11 | g.67610448T>C | CA381536774 | NDUFV1 | c.578T>C (p.Phe193Ser) c.557T>C (p.Phe186Ser) n.320T>C n.437T>C c.551T>C (p.Phe184Ser) c.275T>C (p.Phe92Ser) c.56T>C (p.Phe19Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.67610448T>G | CA381536763 | NDUFV1 | c.578T>G (p.Phe193Cys) c.557T>G (p.Phe186Cys) n.320T>G n.437T>G c.551T>G (p.Phe184Cys) c.275T>G (p.Phe92Cys) c.56T>G (p.Phe19Cys) | |
11 | g.67610448T= | CA1980189875 | NDUFV1 | c.578T= (p.Phe193=) c.557T= (p.Phe186=) n.320T= n.437T= c.551T= (p.Phe184=) c.275T= (p.Phe92=) c.56T= (p.Phe19=) | |
11 | g.67610449T>A | CA381536775 | NDUFV1 | c.579T>A (p.Phe193Leu) c.558T>A (p.Phe186Leu) n.321T>A n.438T>A c.552T>A (p.Phe184Leu) c.276T>A (p.Phe92Leu) c.57T>A (p.Phe19Leu) | |
11 | g.67610449T>C | CA475412421 | NDUFV1 | c.579T>C (p.Phe193=) c.558T>C (p.Phe186=) n.321T>C n.438T>C c.552T>C (p.Phe184=) c.276T>C (p.Phe92=) c.57T>C (p.Phe19=) | |
11 | g.67610449T>G | CA381536776 | NDUFV1 | c.579T>G (p.Phe193Leu) c.558T>G (p.Phe186Leu) n.321T>G n.438T>G c.552T>G (p.Phe184Leu) c.276T>G (p.Phe92Leu) c.57T>G (p.Phe19Leu) | |
11 | g.67610450G>A | CA381536777 | NDUFV1 | c.580G>A (p.Asp194Asn) c.559G>A (p.Asp187Asn) n.322G>A n.439G>A c.553G>A (p.Asp185Asn) c.277G>A (p.Asp93Asn) c.58G>A (p.Asp20Asn) | |
11 | g.67610450G>C | CA381536779 | NDUFV1 | c.580G>C (p.Asp194His) c.559G>C (p.Asp187His) n.322G>C n.439G>C c.553G>C (p.Asp185His) c.277G>C (p.Asp93His) c.58G>C (p.Asp20His) | |
11 | g.67610450G= | CA1980189877 | NDUFV1 | c.580G= (p.Asp194=) c.559G= (p.Asp187=) n.322G= n.439G= c.553G= (p.Asp185=) c.277G= (p.Asp93=) c.58G= (p.Asp20=) | |
11 | g.67610450G>T | CA381536780 | NDUFV1 | c.580G>T (p.Asp194Tyr) c.559G>T (p.Asp187Tyr) n.322G>T n.439G>T c.553G>T (p.Asp185Tyr) c.277G>T (p.Asp93Tyr) c.58G>T (p.Asp20Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610451A>C | CA381536784 | NDUFV1 | c.581A>C (p.Asp194Ala) c.560A>C (p.Asp187Ala) n.323A>C n.440A>C c.554A>C (p.Asp185Ala) c.278A>C (p.Asp93Ala) c.59A>C (p.Asp20Ala) | |
11 | g.67610451A>G | CA381536783 | NDUFV1 | c.581A>G (p.Asp194Gly) c.560A>G (p.Asp187Gly) n.323A>G n.440A>G c.554A>G (p.Asp185Gly) c.278A>G (p.Asp93Gly) c.59A>G (p.Asp20Gly) | |
11 | g.67610451A>T | CA381536782 | NDUFV1 | c.581A>T (p.Asp194Val) c.560A>T (p.Asp187Val) n.323A>T n.440A>T c.554A>T (p.Asp185Val) c.278A>T (p.Asp93Val) c.59A>T (p.Asp20Val) | |
11 | g.67610452C>A | CA381536786 | NDUFV1 | c.582C>A (p.Asp194Glu) c.561C>A (p.Asp187Glu) n.324C>A n.441C>A c.555C>A (p.Asp185Glu) c.279C>A (p.Asp93Glu) c.60C>A (p.Asp20Glu) | |
11 | g.67610452C= | CA1980189882 | NDUFV1 | c.582C= (p.Asp194=) c.561C= (p.Asp187=) n.324C= n.441C= c.555C= (p.Asp185=) c.279C= (p.Asp93=) c.60C= (p.Asp20=) | |
11 | g.67610452C>G | CA381536785 | NDUFV1 | c.582C>G (p.Asp194Glu) c.561C>G (p.Asp187Glu) n.324C>G n.441C>G c.555C>G (p.Asp185Glu) c.279C>G (p.Asp93Glu) c.60C>G (p.Asp20Glu) | |
11 | g.67610452C>T | CA6143216 | NDUFV1 | c.582C>T (p.Asp194=) c.561C>T (p.Asp187=) n.324C>T n.441C>T c.555C>T (p.Asp185=) c.279C>T (p.Asp93=) c.60C>T (p.Asp20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610453G>A | CA6143217 | NDUFV1 | c.583G>A (p.Val195Met) c.562G>A (p.Val188Met) n.325G>A n.442G>A c.556G>A (p.Val186Met) c.280G>A (p.Val94Met) c.61G>A (p.Val21Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610453G>C | CA381536792 | NDUFV1 | c.583G>C (p.Val195Leu) c.562G>C (p.Val188Leu) n.325G>C n.442G>C c.556G>C (p.Val186Leu) c.280G>C (p.Val94Leu) c.61G>C (p.Val21Leu) | |
11 | g.67610453G= | CA1980189888 | NDUFV1 | c.583G= (p.Val195=) c.562G= (p.Val188=) n.325G= n.442G= c.556G= (p.Val186=) c.280G= (p.Val94=) c.61G= (p.Val21=) | |
11 | g.67610453G>T | CA381536795 | NDUFV1 | c.583G>T (p.Val195Leu) c.562G>T (p.Val188Leu) n.325G>T n.442G>T c.556G>T (p.Val186Leu) c.280G>T (p.Val94Leu) c.61G>T (p.Val21Leu) | gnomAD v4 |
11 | g.67610454T>A | CA381536799 | NDUFV1 | c.584T>A (p.Val195Glu) c.563T>A (p.Val188Glu) n.326T>A n.443T>A c.557T>A (p.Val186Glu) c.281T>A (p.Val94Glu) c.62T>A (p.Val21Glu) | gnomAD v4 |
11 | g.67610454T>C | CA224180164 | NDUFV1 | c.584T>C (p.Val195Ala) c.563T>C (p.Val188Ala) n.326T>C n.443T>C c.557T>C (p.Val186Ala) c.281T>C (p.Val94Ala) c.62T>C (p.Val21Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.67610454T>G | CA381536802 | NDUFV1 | c.584T>G (p.Val195Gly) c.563T>G (p.Val188Gly) n.326T>G n.443T>G c.557T>G (p.Val186Gly) c.281T>G (p.Val94Gly) c.62T>G (p.Val21Gly) | |
11 | g.67610454T= | CA1980189895 | NDUFV1 | c.584T= (p.Val195=) c.563T= (p.Val188=) n.326T= n.443T= c.557T= (p.Val186=) c.281T= (p.Val94=) c.62T= (p.Val21=) | |
11 | g.67610455G>A | CA6143218 | NDUFV1 | c.585G>A (p.Val195=) c.564G>A (p.Val188=) n.327G>A n.444G>A c.558G>A (p.Val186=) c.282G>A (p.Val94=) c.63G>A (p.Val21=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610455G>C | CA475412453 | NDUFV1 | c.585G>C (p.Val195=) c.564G>C (p.Val188=) n.327G>C n.444G>C c.558G>C (p.Val186=) c.282G>C (p.Val94=) c.63G>C (p.Val21=) | dbSNP |
11 | g.67610455G= | CA1980189904 | NDUFV1 | c.585G= (p.Val195=) c.564G= (p.Val188=) n.327G= n.444G= c.558G= (p.Val186=) c.282G= (p.Val94=) c.63G= (p.Val21=) | |
11 | g.67610455G>T | CA475412455 | NDUFV1 | c.585G>T (p.Val195=) c.564G>T (p.Val188=) n.327G>T n.444G>T c.558G>T (p.Val186=) c.282G>T (p.Val94=) c.63G>T (p.Val21=) | |
11 | g.67610456T>A | CA381536805 | NDUFV1 | c.586T>A (p.Phe196Ile) c.565T>A (p.Phe189Ile) n.328T>A n.445T>A c.559T>A (p.Phe187Ile) c.283T>A (p.Phe95Ile) c.64T>A (p.Phe22Ile) | |
11 | g.67610456T>C | CA381536807 | NDUFV1 | c.586T>C (p.Phe196Leu) c.565T>C (p.Phe189Leu) n.328T>C n.445T>C c.559T>C (p.Phe187Leu) c.283T>C (p.Phe95Leu) c.64T>C (p.Phe22Leu) | |
11 | g.67610456T>G | CA381536809 | NDUFV1 | c.586T>G (p.Phe196Val) c.565T>G (p.Phe189Val) n.328T>G n.445T>G c.559T>G (p.Phe187Val) c.283T>G (p.Phe95Val) c.64T>G (p.Phe22Val) | |
11 | g.67610457T>A | CA381536812 | NDUFV1 | c.587T>A (p.Phe196Tyr) c.566T>A (p.Phe189Tyr) n.329T>A n.446T>A c.560T>A (p.Phe187Tyr) c.284T>A (p.Phe95Tyr) c.65T>A (p.Phe22Tyr) | |
11 | g.67610457T>C | CA381536813 | NDUFV1 | c.587T>C (p.Phe196Ser) c.566T>C (p.Phe189Ser) n.329T>C n.446T>C c.560T>C (p.Phe187Ser) c.284T>C (p.Phe95Ser) c.65T>C (p.Phe22Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610457T>G | CA381536814 | NDUFV1 | c.587T>G (p.Phe196Cys) c.566T>G (p.Phe189Cys) n.329T>G n.446T>G c.560T>G (p.Phe187Cys) c.284T>G (p.Phe95Cys) c.65T>G (p.Phe22Cys) | COSMIC |
11 | g.67610457T= | CA1980189908 | NDUFV1 | c.587T= (p.Phe196=) c.566T= (p.Phe189=) n.329T= n.446T= c.560T= (p.Phe187=) c.284T= (p.Phe95=) c.65T= (p.Phe22=) | |
11 | g.67610458T>A | CA381536817 | NDUFV1 | c.588T>A (p.Phe196Leu) c.567T>A (p.Phe189Leu) n.330T>A n.447T>A c.561T>A (p.Phe187Leu) c.285T>A (p.Phe95Leu) c.66T>A (p.Phe22Leu) | |
11 | g.67610458T>C | CA475412474 | NDUFV1 | c.588T>C (p.Phe196=) c.567T>C (p.Phe189=) n.330T>C n.447T>C c.561T>C (p.Phe187=) c.285T>C (p.Phe95=) c.66T>C (p.Phe22=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610458T>G | CA381536816 | NDUFV1 | c.588T>G (p.Phe196Leu) c.567T>G (p.Phe189Leu) n.330T>G n.447T>G c.561T>G (p.Phe187Leu) c.285T>G (p.Phe95Leu) c.66T>G (p.Phe22Leu) | |
11 | g.67610458T= | CA1980189911 | NDUFV1 | c.588T= (p.Phe196=) c.567T= (p.Phe189=) n.330T= n.447T= c.561T= (p.Phe187=) c.285T= (p.Phe95=) c.66T= (p.Phe22=) | |
11 | g.67610459G>A | CA381536819 | NDUFV1 | c.589G>A (p.Val197Met) c.568G>A (p.Val190Met) n.331G>A n.448G>A c.562G>A (p.Val188Met) c.286G>A (p.Val96Met) c.286G>A c.67G>A (p.Val23Met) | dbSNP gnomAD v4 |
11 | g.67610459G>C | CA381536822 | NDUFV1 | c.589G>C (p.Val197Leu) c.568G>C (p.Val190Leu) n.331G>C n.448G>C c.562G>C (p.Val188Leu) c.286G>C (p.Val96Leu) c.286G>C c.67G>C (p.Val23Leu) | |
11 | g.67610459G= | CA1980189912 | NDUFV1 | c.589G= (p.Val197=) c.568G= (p.Val190=) n.331G= n.448G= c.562G= (p.Val188=) c.286G= (p.Val96=) c.286G= c.67G= (p.Val23=) | |
11 | g.67610459G>T | CA381536824 | NDUFV1 | c.589G>T (p.Val197Leu) c.568G>T (p.Val190Leu) n.331G>T n.448G>T c.562G>T (p.Val188Leu) c.286G>T (p.Val96Leu) c.286G>T c.67G>T (p.Val23Leu) | |
11 | g.67610460T>A | CA381536825 | NDUFV1 | c.590T>A (p.Val197Glu) c.569T>A (p.Val190Glu) n.332T>A n.449T>A c.563T>A (p.Val188Glu) c.287T>A (p.Val96Glu) c.287T>A c.68T>A (p.Val23Glu) | |
11 | g.67610460T>C | CA224180180 | NDUFV1 | c.590T>C (p.Val197Ala) c.569T>C (p.Val190Ala) n.332T>C n.449T>C c.563T>C (p.Val188Ala) c.287T>C (p.Val96Ala) c.287T>C c.68T>C (p.Val23Ala) | dbSNP |
11 | g.67610460T>G | CA381536835 | NDUFV1 | c.590T>G (p.Val197Gly) c.569T>G (p.Val190Gly) n.332T>G n.449T>G c.563T>G (p.Val188Gly) c.287T>G (p.Val96Gly) c.287T>G c.68T>G (p.Val23Gly) | |
11 | g.67610460T= | CA1980189916 | NDUFV1 | c.590T= (p.Val197=) c.569T= (p.Val190=) n.332T= n.449T= c.563T= (p.Val188=) c.287T= (p.Val96=) c.287T= c.68T= (p.Val23=) | |
11 | g.67610461G>A | CA475412492 | NDUFV1 | c.591G>A (p.Val197=) c.570G>A (p.Val190=) n.333G>A n.450G>A c.564G>A (p.Val188=) c.288G>A (p.Val96=) c.69G>A (p.Val23=) | dbSNP gnomAD v2 |
11 | g.67610461G>C | CA475412489 | NDUFV1 | c.591G>C (p.Val197=) c.570G>C (p.Val190=) n.333G>C n.450G>C c.564G>C (p.Val188=) c.288G>C (p.Val96=) c.69G>C (p.Val23=) | |
11 | g.67610461G= | CA1980189918 | NDUFV1 | c.591G= (p.Val197=) c.570G= (p.Val190=) n.333G= n.450G= c.564G= (p.Val188=) c.288G= (p.Val96=) c.69G= (p.Val23=) | |
11 | g.67610461G>T | CA475412487 | NDUFV1 | c.591G>T (p.Val197=) c.570G>T (p.Val190=) n.333G>T n.450G>T c.564G>T (p.Val188=) c.288G>T (p.Val96=) c.69G>T (p.Val23=) | ClinVar |
11 | g.67610462G>A | CA6143219 | NDUFV1 | c.592G>A (p.Val198Met) c.571G>A (p.Val191Met) n.334G>A n.451G>A c.565G>A (p.Val189Met) c.289G>A (p.Val97Met) c.70G>A (p.Val24Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610462G>C | CA6143220 | NDUFV1 | c.592G>C (p.Val198Leu) c.571G>C (p.Val191Leu) n.334G>C n.451G>C c.565G>C (p.Val189Leu) c.289G>C (p.Val97Leu) c.70G>C (p.Val24Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610462G= | CA1980189920 | NDUFV1 | c.592G= (p.Val198=) c.571G= (p.Val191=) n.334G= n.451G= c.565G= (p.Val189=) c.289G= (p.Val97=) c.70G= (p.Val24=) | |
11 | g.67610462G>T | CA381536844 | NDUFV1 | c.592G>T (p.Val198Leu) c.571G>T (p.Val191Leu) n.334G>T n.451G>T c.565G>T (p.Val189Leu) c.289G>T (p.Val97Leu) c.70G>T (p.Val24Leu) | |
11 | g.67610463T>A | CA381536848 | NDUFV1 | c.593T>A (p.Val198Glu) c.572T>A (p.Val191Glu) n.335T>A n.452T>A c.566T>A (p.Val189Glu) c.290T>A (p.Val97Glu) c.71T>A (p.Val24Glu) | |
11 | g.67610463T>C | CA381536851 | NDUFV1 | c.593T>C (p.Val198Ala) c.572T>C (p.Val191Ala) n.335T>C n.452T>C c.566T>C (p.Val189Ala) c.290T>C (p.Val97Ala) c.71T>C (p.Val24Ala) | |
11 | g.67610463T>G | CA381536854 | NDUFV1 | c.593T>G (p.Val198Gly) c.572T>G (p.Val191Gly) n.335T>G n.452T>G c.566T>G (p.Val189Gly) c.290T>G (p.Val97Gly) c.71T>G (p.Val24Gly) | |
11 | g.67610464G>A | CA475412508 | NDUFV1 | c.594G>A (p.Val198=) c.573G>A (p.Val191=) n.336G>A n.453G>A c.567G>A (p.Val189=) c.291G>A (p.Val97=) c.72G>A (p.Val24=) | |
11 | g.67610464G>C | CA475412513 | NDUFV1 | c.594G>C (p.Val198=) c.573G>C (p.Val191=) n.336G>C n.453G>C c.567G>C (p.Val189=) c.291G>C (p.Val97=) c.72G>C (p.Val24=) | |
11 | g.67610464G>T | CA475412510 | NDUFV1 | c.594G>T (p.Val198=) c.573G>T (p.Val191=) n.336G>T n.453G>T c.567G>T (p.Val189=) c.291G>T (p.Val97=) c.72G>T (p.Val24=) | gnomAD v4 |
11 | g.67610465C>A | CA381536861 | NDUFV1 | c.595C>A (p.Arg199Ser) c.574C>A (p.Arg192Ser) n.337C>A n.454C>A c.568C>A (p.Arg190Ser) c.292C>A (p.Arg98Ser) c.73C>A (p.Arg25Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610465C= | CA1980189933 | NDUFV1 | c.595C= (p.Arg199=) c.574C= (p.Arg192=) n.337C= n.454C= c.568C= (p.Arg190=) c.292C= (p.Arg98=) c.73C= (p.Arg25=) | |
11 | g.67610465C>G | CA381536858 | NDUFV1 | c.595C>G (p.Arg199Gly) c.574C>G (p.Arg192Gly) n.337C>G n.454C>G c.568C>G (p.Arg190Gly) c.292C>G (p.Arg98Gly) c.73C>G (p.Arg25Gly) | |
11 | g.67610465C>T | CA6143221 | NDUFV1 | c.595C>T (p.Arg199Cys) c.574C>T (p.Arg192Cys) n.337C>T n.454C>T c.568C>T (p.Arg190Cys) c.292C>T (p.Arg98Cys) c.73C>T (p.Arg25Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610466G>A | CA6143222 | NDUFV1 | c.596G>A (p.Arg199His) c.575G>A (p.Arg192His) n.338G>A n.455G>A c.569G>A (p.Arg190His) c.293G>A (p.Arg98His) c.74G>A (p.Arg25His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610466G>C | CA224180198 | NDUFV1 | c.596G>C (p.Arg199Pro) c.575G>C (p.Arg192Pro) n.338G>C n.455G>C c.569G>C (p.Arg190Pro) c.293G>C (p.Arg98Pro) c.74G>C (p.Arg25Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.67610466G= | CA1980189939 | NDUFV1 | c.596G= (p.Arg199=) c.575G= (p.Arg192=) n.338G= n.455G= c.569G= (p.Arg190=) c.293G= (p.Arg98=) c.74G= (p.Arg25=) | |
11 | g.67610466G>T | CA381536872 | NDUFV1 | c.596G>T (p.Arg199Leu) c.575G>T (p.Arg192Leu) n.338G>T n.455G>T c.569G>T (p.Arg190Leu) c.293G>T (p.Arg98Leu) c.74G>T (p.Arg25Leu) | |
11 | g.67610467C>A | CA475412528 | NDUFV1 | c.597C>A (p.Arg199=) c.576C>A (p.Arg192=) n.339C>A n.456C>A c.570C>A (p.Arg190=) c.294C>A (p.Arg98=) c.75C>A (p.Arg25=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610467C= | CA1980189949 | NDUFV1 | c.597C= (p.Arg199=) c.576C= (p.Arg192=) n.339C= n.456C= c.570C= (p.Arg190=) c.294C= (p.Arg98=) c.75C= (p.Arg25=) | |
11 | g.67610467C>G | CA475412530 | NDUFV1 | c.597C>G (p.Arg199=) c.576C>G (p.Arg192=) n.339C>G n.456C>G c.570C>G (p.Arg190=) c.294C>G (p.Arg98=) c.75C>G (p.Arg25=) | |
11 | g.67610467C>T | CA6143223 | NDUFV1 | c.597C>T (p.Arg199=) c.576C>T (p.Arg192=) n.339C>T n.456C>T c.570C>T (p.Arg190=) c.294C>T (p.Arg98=) c.75C>T (p.Arg25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610468G>A | CA6143224 | NDUFV1 | c.598G>A (p.Gly200Arg) c.577G>A (p.Gly193Arg) n.340G>A n.457G>A c.571G>A (p.Gly191Arg) c.295G>A (p.Gly99Arg) c.76G>A (p.Gly26Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67610468G>C | CA381536873 | NDUFV1 | c.598G>C (p.Gly200Arg) c.577G>C (p.Gly193Arg) n.340G>C n.457G>C c.571G>C (p.Gly191Arg) c.295G>C (p.Gly99Arg) c.76G>C (p.Gly26Arg) | |
11 | g.67610468G= | CA1980189956 | NDUFV1 | c.598G= (p.Gly200=) c.577G= (p.Gly193=) n.340G= n.457G= c.571G= (p.Gly191=) c.295G= (p.Gly99=) c.76G= (p.Gly26=) | |
11 | g.67610468G>T | CA381536875 | NDUFV1 | c.598G>T (p.Gly200Trp) c.577G>T (p.Gly193Trp) n.340G>T n.457G>T c.571G>T (p.Gly191Trp) c.295G>T (p.Gly99Trp) c.76G>T (p.Gly26Trp) | |
11 | g.67610471dup | CA939065813 | NDUFV1 | c.601dup (p.Ala201GlyfsTer17) c.580dup (p.Ala194GlyfsTer17) n.343dup n.460dup c.574dup (p.Ala192GlyfsTer17) c.298dup (p.Ala100GlyfsTer17) c.79dup (p.Ala27GlyfsTer17) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.67610469G>A | CA381536878 | NDUFV1 | c.599G>A (p.Gly200Glu) c.578G>A (p.Gly193Glu) n.341G>A n.458G>A c.572G>A (p.Gly191Glu) c.296G>A (p.Gly99Glu) c.77G>A (p.Gly26Glu) | |
11 | g.67610469G>C | CA381536880 | NDUFV1 | c.599G>C (p.Gly200Ala) c.578G>C (p.Gly193Ala) n.341G>C n.458G>C c.572G>C (p.Gly191Ala) c.296G>C (p.Gly99Ala) c.77G>C (p.Gly26Ala) | |
11 | g.67610469G>T | CA381536881 | NDUFV1 | c.599G>T (p.Gly200Val) c.578G>T (p.Gly193Val) n.341G>T n.458G>T c.572G>T (p.Gly191Val) c.296G>T (p.Gly99Val) c.77G>T (p.Gly26Val) | |
11 | g.67610470G>A | CA475412547 | NDUFV1 | c.600G>A (p.Gly200=) c.579G>A (p.Gly193=) n.342G>A n.459G>A c.573G>A (p.Gly191=) c.297G>A (p.Gly99=) c.78G>A (p.Gly26=) | COSMIC |
11 | g.67610470G>C | CA475412549 | NDUFV1 | c.600G>C (p.Gly200=) c.579G>C (p.Gly193=) n.342G>C n.459G>C c.573G>C (p.Gly191=) c.297G>C (p.Gly99=) c.78G>C (p.Gly26=) | ClinVar |
11 | g.67610470G>T | CA475412552 | NDUFV1 | c.600G>T (p.Gly200=) c.579G>T (p.Gly193=) n.342G>T n.459G>T c.573G>T (p.Gly191=) c.297G>T (p.Gly99=) c.78G>T (p.Gly26=) | |
11 | g.67610471G>A | CA381536884 | NDUFV1 | c.601G>A (p.Ala201Thr) c.580G>A (p.Ala194Thr) n.343G>A n.460G>A c.574G>A (p.Ala192Thr) c.298G>A (p.Ala100Thr) c.79G>A (p.Ala27Thr) | gnomAD v4 |
11 | g.67610471G>C | CA381536889 | NDUFV1 | c.601G>C (p.Ala201Pro) c.580G>C (p.Ala194Pro) n.343G>C n.460G>C c.574G>C (p.Ala192Pro) c.298G>C (p.Ala100Pro) c.79G>C (p.Ala27Pro) | |
11 | g.67610471G>T | CA381536895 | NDUFV1 | c.601G>T (p.Ala201Ser) c.580G>T (p.Ala194Ser) n.343G>T n.460G>T c.574G>T (p.Ala192Ser) c.298G>T (p.Ala100Ser) c.79G>T (p.Ala27Ser) | |
11 | g.67610472C>A | CA381536907 | NDUFV1 | c.602C>A (p.Ala201Asp) c.581C>A (p.Ala194Asp) n.344C>A n.461C>A c.575C>A (p.Ala192Asp) c.299C>A (p.Ala100Asp) c.80C>A (p.Ala27Asp) | |
11 | g.67610472C>G | CA381536897 | NDUFV1 | c.602C>G (p.Ala201Gly) c.581C>G (p.Ala194Gly) n.344C>G n.461C>G c.575C>G (p.Ala192Gly) c.299C>G (p.Ala100Gly) c.80C>G (p.Ala27Gly) | |
11 | g.67610472C>T | CA381536906 | NDUFV1 | c.602C>T (p.Ala201Val) c.581C>T (p.Ala194Val) n.344C>T n.461C>T c.575C>T (p.Ala192Val) c.299C>T (p.Ala100Val) c.80C>T (p.Ala27Val) | |
11 | g.67610473T>A | CA475412563 | NDUFV1 | c.603T>A (p.Ala201=) c.582T>A (p.Ala194=) n.345T>A n.462T>A c.576T>A (p.Ala192=) c.300T>A (p.Ala100=) c.81T>A (p.Ala27=) | |
11 | g.67610473T>C | CA475412565 | NDUFV1 | c.603T>C (p.Ala201=) c.582T>C (p.Ala194=) n.345T>C n.462T>C c.576T>C (p.Ala192=) c.300T>C (p.Ala100=) c.81T>C (p.Ala27=) | |
11 | g.67610473T>G | CA475412567 | NDUFV1 | c.603T>G (p.Ala201=) c.582T>G (p.Ala194=) n.345T>G n.462T>G c.576T>G (p.Ala192=) c.300T>G (p.Ala100=) c.81T>G (p.Ala27=) | |
11 | g.67610473_67610474insTGCCCTGCTTGCCCTCAAT | CA2792509342 | NDUFV1 | c.603_604insTGCCCTGCTTGCCCTCAAT (p.Gly202CysfsTer22) c.582_583insTGCCCTGCTTGCCCTCAAT (p.Gly195CysfsTer22) n.345_346insTGCCCTGCTTGCCCTCAAT n.462_463insTGCCCTGCTTGCCCTCAAT c.576_577insTGCCCTGCTTGCCCTCAAT (p.Gly193CysfsTer22) c.300_301insTGCCCTGCTTGCCCTCAAT (p.Gly101CysfsTer22) c.81_82insTGCCCTGCTTGCCCTCAAT (p.Gly28CysfsTer22) | |
11 | g.67610473_67610474delinsTG | CA1980189960 | NDUFV1 | c.603_604delinsTG (p.Ala201=) c.582_583delinsTG (p.Ala194=) n.345_346delinsTG n.462_463delinsTG c.576_577delinsTG (p.Ala192=) c.300_301delinsTG (p.Ala100=) c.81_82delinsTG (p.Ala27=) | |
11 | g.67610474G>A | CA381536909 | NDUFV1 | c.604G>A (p.Gly202Arg) c.583G>A (p.Gly195Arg) n.346G>A n.463G>A c.577G>A (p.Gly193Arg) c.301G>A (p.Gly101Arg) c.82G>A (p.Gly28Arg) | |
11 | g.67610474G>C | CA381536912 | NDUFV1 | c.604G>C (p.Gly202Arg) c.583G>C (p.Gly195Arg) n.346G>C n.463G>C c.577G>C (p.Gly193Arg) c.301G>C (p.Gly101Arg) c.82G>C (p.Gly28Arg) | |
11 | g.67610474G>T | CA381536914 | NDUFV1 | c.604G>T (p.Gly202Trp) c.583G>T (p.Gly195Trp) n.346G>T n.463G>T c.577G>T (p.Gly193Trp) c.301G>T (p.Gly101Trp) c.82G>T (p.Gly28Trp) | |
11 | g.67610477del | CA918903883 | NDUFV1 | c.607del (p.Ala203ProfsTer23) c.586del (p.Ala196ProfsTer23) n.349del n.466del c.580del (p.Ala194ProfsTer23) c.304del (p.Ala102ProfsTer23) c.85del (p.Ala29ProfsTer23) | dbSNP gnomAD v4 |
11 | g.67610476_67610477del | CA2574897640 | NDUFV1 | c.606_607del (p.Ala203LeufsTer14) c.585_586del (p.Ala196LeufsTer14) n.348_349del n.465_466del c.579_580del (p.Ala194LeufsTer14) c.303_304del (p.Ala102LeufsTer14) c.84_85del (p.Ala29LeufsTer14) | |
11 | g.67610475G>A | CA381536916 | NDUFV1 | c.605G>A (p.Gly202Glu) c.584G>A (p.Gly195Glu) n.347G>A n.464G>A c.578G>A (p.Gly193Glu) c.302G>A (p.Gly101Glu) c.83G>A (p.Gly28Glu) | |
11 | g.67610475G>C | CA381536917 | NDUFV1 | c.605G>C (p.Gly202Ala) c.584G>C (p.Gly195Ala) n.347G>C n.464G>C c.578G>C (p.Gly193Ala) c.302G>C (p.Gly101Ala) c.83G>C (p.Gly28Ala) | |
11 | g.67610475G>T | CA381536918 | NDUFV1 | c.605G>T (p.Gly202Val) c.584G>T (p.Gly195Val) n.347G>T n.464G>T c.578G>T (p.Gly193Val) c.302G>T (p.Gly101Val) c.83G>T (p.Gly28Val) | COSMIC |
11 | g.67610475_67610476insCCCTGCTT | CA2792509346 | NDUFV1 | c.605_606insCCCTGCTT (p.Ala203ProfsTer26) c.584_585insCCCTGCTT (p.Ala196ProfsTer26) n.347_348insCCCTGCTT n.464_465insCCCTGCTT c.578_579insCCCTGCTT (p.Ala194ProfsTer26) c.302_303insCCCTGCTT (p.Ala102ProfsTer26) c.83_84insCCCTGCTT (p.Ala29ProfsTer26) | |
11 | g.67610475_67610476insACTCGATGAGCGCTGTCTCCTCTCCACAGATGTA | CA2792509345 | NDUFV1 | c.605_606insACTCGATGAGCGCTGTCTCCTCTCCACAGATGTA (p.Ala203LeufsTer26) c.584_585insACTCGATGAGCGCTGTCTCCTCTCCACAGATGTA (p.Ala196LeufsTer26) n.347_348insACTCGATGAGCGCTGTCTCCTCTCCACAGATGTA n.464_465insACTCGATGAGCGCTGTCTCCTCTCCACAGATGTA c.578_579insACTCGATGAGCGCTGTCTCCTCTCCACAGATGTA (p.Ala194LeufsTer26) c.302_303insACTCGATGAGCGCTGTCTCCTCTCCACAGATGTA (p.Ala102LeufsTer26) c.83_84insACTCGATGAGCGCTGTCTCCTCTCCACAGATGTA (p.Ala29LeufsTer26) | |
11 | g.67610476G>A | CA10631385 | NDUFV1 | c.606G>A (p.Gly202=) c.585G>A (p.Gly195=) n.348G>A n.465G>A c.579G>A (p.Gly193=) c.303G>A (p.Gly101=) c.84G>A (p.Gly28=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.67610476G>C | CA475412584 | NDUFV1 | c.606G>C (p.Gly202=) c.585G>C (p.Gly195=) n.348G>C n.465G>C c.579G>C (p.Gly193=) c.303G>C (p.Gly101=) c.84G>C (p.Gly28=) | |
11 | g.67610476G= | CA1980189968 | NDUFV1 | c.606G= (p.Gly202=) c.585G= (p.Gly195=) n.348G= n.465G= c.579G= (p.Gly193=) c.303G= (p.Gly101=) c.84G= (p.Gly28=) | |
11 | g.67610476G>T | CA475412586 | NDUFV1 | c.606G>T (p.Gly202=) c.585G>T (p.Gly195=) n.348G>T n.465G>T c.579G>T (p.Gly193=) c.303G>T (p.Gly101=) c.84G>T (p.Gly28=) | |
11 | g.67610477G>A | CA381536928 | NDUFV1 | c.607G>A (p.Ala203Thr) c.586G>A (p.Ala196Thr) n.349G>A n.466G>A c.580G>A (p.Ala194Thr) c.304G>A (p.Ala102Thr) c.85G>A (p.Ala29Thr) | gnomAD v4 |
11 | g.67610477G>C | CA381536931 | NDUFV1 | c.607G>C (p.Ala203Pro) c.586G>C (p.Ala196Pro) n.349G>C n.466G>C c.580G>C (p.Ala194Pro) c.304G>C (p.Ala102Pro) c.85G>C (p.Ala29Pro) | |
11 | g.67610477G>T | CA381536934 | NDUFV1 | c.607G>T (p.Ala203Ser) c.586G>T (p.Ala196Ser) n.349G>T n.466G>T c.580G>T (p.Ala194Ser) c.304G>T (p.Ala102Ser) c.85G>T (p.Ala29Ser) | |
11 | g.67610478C>A | CA381536939 | NDUFV1 | c.608C>A (p.Ala203Asp) c.587C>A (p.Ala196Asp) n.350C>A n.467C>A c.581C>A (p.Ala194Asp) c.305C>A (p.Ala102Asp) c.86C>A (p.Ala29Asp) | |
11 | g.67610478C= | CA1980189971 | NDUFV1 | c.608C= (p.Ala203=) c.587C= (p.Ala196=) n.350C= n.467C= c.581C= (p.Ala194=) c.305C= (p.Ala102=) c.86C= (p.Ala29=) | |
11 | g.67610478C>G | CA381536940 | NDUFV1 | c.608C>G (p.Ala203Gly) c.587C>G (p.Ala196Gly) n.350C>G n.467C>G c.581C>G (p.Ala194Gly) c.305C>G (p.Ala102Gly) c.86C>G (p.Ala29Gly) | |
11 | g.67610478C>T | CA381536944 | NDUFV1 | c.608C>T (p.Ala203Val) c.587C>T (p.Ala196Val) n.350C>T n.467C>T c.581C>T (p.Ala194Val) c.305C>T (p.Ala102Val) c.86C>T (p.Ala29Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610479_67610480insCCAGCCC | CA2792509347 | NDUFV1 | c.609_610insCCAGCCC (p.Tyr204ProfsTer16) c.588_589insCCAGCCC (p.Tyr197ProfsTer16) n.351_352insCCAGCCC n.468_469insCCAGCCC c.582_583insCCAGCCC (p.Tyr195ProfsTer16) c.306_307insCCAGCCC (p.Tyr103ProfsTer16) c.87_88insCCAGCCC (p.Tyr30ProfsTer16) | |
11 | g.67610479del | CA2614647490 | NDUFV1 | c.609del (p.Tyr204ThrfsTer22) c.588del (p.Tyr197ThrfsTer22) n.351del n.468del c.582del (p.Tyr195ThrfsTer22) c.306del (p.Tyr103ThrfsTer22) c.87del (p.Tyr30ThrfsTer22) | gnomAD v4 |
11 | g.67610479C>A | CA475412599 | NDUFV1 | c.609C>A (p.Ala203=) c.588C>A (p.Ala196=) n.351C>A n.468C>A c.582C>A (p.Ala194=) c.306C>A (p.Ala102=) c.87C>A (p.Ala29=) | |
11 | g.67610479C>G | CA475412605 | NDUFV1 | c.609C>G (p.Ala203=) c.588C>G (p.Ala196=) n.351C>G n.468C>G c.582C>G (p.Ala194=) c.306C>G (p.Ala102=) c.87C>G (p.Ala29=) | gnomAD v4 |
11 | g.67610479C>T | CA475412601 | NDUFV1 | c.609C>T (p.Ala203=) c.588C>T (p.Ala196=) n.351C>T n.468C>T c.582C>T (p.Ala194=) c.306C>T (p.Ala102=) c.87C>T (p.Ala29=) | |
11 | g.67610480del | CA2614647492 | NDUFV1 | c.610del (p.Tyr204ThrfsTer22) c.589del (p.Tyr197ThrfsTer22) n.352del n.469del c.583del (p.Tyr195ThrfsTer22) c.307del (p.Tyr103ThrfsTer22) c.88del (p.Tyr30ThrfsTer22) | gnomAD v4 |
11 | g.67610480T>A | CA381536949 | NDUFV1 | c.610T>A (p.Tyr204Asn) c.589T>A (p.Tyr197Asn) n.352T>A n.469T>A c.583T>A (p.Tyr195Asn) c.307T>A (p.Tyr103Asn) c.88T>A (p.Tyr30Asn) | |
11 | g.67610480T>C | CA381536953 | NDUFV1 | c.610T>C (p.Tyr204His) c.589T>C (p.Tyr197His) n.352T>C n.469T>C c.583T>C (p.Tyr195His) c.307T>C (p.Tyr103His) c.88T>C (p.Tyr30His) | gnomAD v4 |
11 | g.67610480T>G | CA381536947 | NDUFV1 | c.610T>G (p.Tyr204Asp) c.589T>G (p.Tyr197Asp) n.352T>G n.469T>G c.583T>G (p.Tyr195Asp) c.307T>G (p.Tyr103Asp) c.88T>G (p.Tyr30Asp) | |
11 | g.67610481A= | CA1980189973 | NDUFV1 | c.611A= (p.Tyr204=) c.590A= (p.Tyr197=) n.353A= n.470A= c.584A= (p.Tyr195=) c.308A= (p.Tyr103=) c.89A= (p.Tyr30=) | |
11 | g.67610481A>C | CA381536957 | NDUFV1 | c.611A>C (p.Tyr204Ser) c.590A>C (p.Tyr197Ser) n.353A>C n.470A>C c.584A>C (p.Tyr195Ser) c.308A>C (p.Tyr103Ser) c.89A>C (p.Tyr30Ser) | |
11 | g.67610481A>G | CA381536960 | NDUFV1 | c.611A>G (p.Tyr204Cys) c.590A>G (p.Tyr197Cys) n.353A>G n.470A>G c.584A>G (p.Tyr195Cys) c.308A>G (p.Tyr103Cys) c.89A>G (p.Tyr30Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.67610481A>T | CA381536959 | NDUFV1 | c.611A>T (p.Tyr204Phe) c.590A>T (p.Tyr197Phe) n.353A>T n.470A>T c.584A>T (p.Tyr195Phe) c.308A>T (p.Tyr103Phe) c.89A>T (p.Tyr30Phe) | |
11 | g.67610482C>A | CA381536962 | NDUFV1 | c.612C>A (p.Tyr204Ter) c.591C>A (p.Tyr197Ter) n.354C>A n.471C>A c.585C>A (p.Tyr195Ter) c.309C>A (p.Tyr103Ter) c.90C>A (p.Tyr30Ter) | |
11 | g.67610482C= | CA1980189982 | NDUFV1 | c.612C= (p.Tyr204=) c.591C= (p.Tyr197=) n.354C= n.471C= c.585C= (p.Tyr195=) c.309C= (p.Tyr103=) c.90C= (p.Tyr30=) | |
11 | g.67610482C>G | CA381536964 | NDUFV1 | c.612C>G (p.Tyr204Ter) c.591C>G (p.Tyr197Ter) n.354C>G n.471C>G c.585C>G (p.Tyr195Ter) c.309C>G (p.Tyr103Ter) c.90C>G (p.Tyr30Ter) | |
11 | g.67610482C>T | CA6143225 | NDUFV1 | c.612C>T (p.Tyr204=) c.591C>T (p.Tyr197=) n.354C>T n.471C>T c.585C>T (p.Tyr195=) c.309C>T (p.Tyr103=) c.90C>T (p.Tyr30=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610483A>C | CA381536965 | NDUFV1 | c.613A>C (p.Ile205Leu) c.592A>C (p.Ile198Leu) n.355A>C n.472A>C c.586A>C (p.Ile196Leu) c.310A>C (p.Ile104Leu) c.91A>C (p.Ile31Leu) | gnomAD v4 |
11 | g.67610483A>G | CA381536966 | NDUFV1 | c.613A>G (p.Ile205Val) c.592A>G (p.Ile198Val) n.355A>G n.472A>G c.586A>G (p.Ile196Val) c.310A>G (p.Ile104Val) c.91A>G (p.Ile31Val) | |
11 | g.67610483A>T | CA381536967 | NDUFV1 | c.613A>T (p.Ile205Phe) c.592A>T (p.Ile198Phe) n.355A>T n.472A>T c.586A>T (p.Ile196Phe) c.310A>T (p.Ile104Phe) c.91A>T (p.Ile31Phe) | |
11 | g.67610484T>A | CA381536969 | NDUFV1 | c.614T>A (p.Ile205Asn) c.593T>A (p.Ile198Asn) n.356T>A n.473T>A c.587T>A (p.Ile196Asn) c.311T>A (p.Ile104Asn) c.92T>A (p.Ile31Asn) | |
11 | g.67610484T>C | CA381536972 | NDUFV1 | c.614T>C (p.Ile205Thr) c.593T>C (p.Ile198Thr) n.356T>C n.473T>C c.587T>C (p.Ile196Thr) c.311T>C (p.Ile104Thr) c.92T>C (p.Ile31Thr) | |
11 | g.67610484T>G | CA381536974 | NDUFV1 | c.614T>G (p.Ile205Ser) c.593T>G (p.Ile198Ser) n.356T>G n.473T>G c.587T>G (p.Ile196Ser) c.311T>G (p.Ile104Ser) c.92T>G (p.Ile31Ser) | |
11 | g.67610485C>A | CA475412629 | NDUFV1 | c.615C>A (p.Ile205=) c.594C>A (p.Ile198=) n.357C>A n.474C>A c.588C>A (p.Ile196=) c.312C>A (p.Ile104=) c.93C>A (p.Ile31=) | gnomAD v4 |
11 | g.67610485C>G | CA381536977 | NDUFV1 | c.615C>G (p.Ile205Met) c.594C>G (p.Ile198Met) n.357C>G n.474C>G c.588C>G (p.Ile196Met) c.312C>G (p.Ile104Met) c.93C>G (p.Ile31Met) | |
11 | g.67610485C>T | CA475412631 | NDUFV1 | c.615C>T (p.Ile205=) c.594C>T (p.Ile198=) n.357C>T n.474C>T c.588C>T (p.Ile196=) c.312C>T (p.Ile104=) c.93C>T (p.Ile31=) | |
11 | g.67610486T>A | CA381536980 | NDUFV1 | c.616T>A (p.Cys206Ser) c.595T>A (p.Cys199Ser) n.358T>A n.475T>A c.589T>A (p.Cys197Ser) c.313T>A (p.Cys105Ser) c.94T>A (p.Cys32Ser) | |
11 | g.67610486T>C | CA381536982 | NDUFV1 | c.616T>C (p.Cys206Arg) c.595T>C (p.Cys199Arg) n.358T>C n.475T>C c.589T>C (p.Cys197Arg) c.313T>C (p.Cys105Arg) c.94T>C (p.Cys32Arg) | gnomAD v3 gnomAD v4 |
11 | g.67610486T>G | CA381536984 | NDUFV1 | c.616T>G (p.Cys206Gly) c.595T>G (p.Cys199Gly) n.358T>G n.475T>G c.589T>G (p.Cys197Gly) c.313T>G (p.Cys105Gly) c.94T>G (p.Cys32Gly) | |
11 | g.67610487G>A | CA322089 | NDUFV1 | c.617G>A (p.Cys206Tyr) c.596G>A (p.Cys199Tyr) n.359G>A n.476G>A c.590G>A (p.Cys197Tyr) c.314G>A (p.Cys105Tyr) c.95G>A (p.Cys32Tyr) | ClinVar dbSNP gnomAD v4 |
11 | g.67610487G>C | CA381536988 | NDUFV1 | c.617G>C (p.Cys206Ser) c.596G>C (p.Cys199Ser) n.359G>C n.476G>C c.590G>C (p.Cys197Ser) c.314G>C (p.Cys105Ser) c.95G>C (p.Cys32Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.67610487G= | CA1980189994 | NDUFV1 | c.617G= (p.Cys206=) c.596G= (p.Cys199=) n.359G= n.476G= c.590G= (p.Cys197=) c.314G= (p.Cys105=) c.95G= (p.Cys32=) | |
11 | g.67610487G>T | CA381536987 | NDUFV1 | c.617G>T (p.Cys206Phe) c.596G>T (p.Cys199Phe) n.359G>T n.476G>T c.590G>T (p.Cys197Phe) c.314G>T (p.Cys105Phe) c.95G>T (p.Cys32Phe) | |
11 | g.67610488T>A | CA381536989 | NDUFV1 | c.618T>A (p.Cys206Ter) c.597T>A (p.Cys199Ter) n.360T>A n.477T>A c.591T>A (p.Cys197Ter) c.315T>A (p.Cys105Ter) c.96T>A (p.Cys32Ter) | |
11 | g.67610488T>C | CA475412648 | NDUFV1 | c.618T>C (p.Cys206=) c.597T>C (p.Cys199=) n.360T>C n.477T>C c.591T>C (p.Cys197=) c.315T>C (p.Cys105=) c.96T>C (p.Cys32=) | |
11 | g.67610488T>G | CA381536990 | NDUFV1 | c.618T>G (p.Cys206Trp) c.597T>G (p.Cys199Trp) n.360T>G n.477T>G c.591T>G (p.Cys197Trp) c.315T>G (p.Cys105Trp) c.96T>G (p.Cys32Trp) | |
11 | g.67610489G>A | CA381536992 | NDUFV1 | c.619G>A (p.Gly207Arg) c.598G>A (p.Gly200Arg) n.361G>A n.478G>A c.592G>A (p.Gly198Arg) c.316G>A (p.Gly106Arg) c.97G>A (p.Gly33Arg) | |
11 | g.67610489G>C | CA381536994 | NDUFV1 | c.619G>C (p.Gly207Arg) c.598G>C (p.Gly200Arg) n.361G>C n.478G>C c.592G>C (p.Gly198Arg) c.316G>C (p.Gly106Arg) c.97G>C (p.Gly33Arg) | |
11 | g.67610489G>T | CA381536999 | NDUFV1 | c.619G>T (p.Gly207Ter) c.598G>T (p.Gly200Ter) n.361G>T n.478G>T c.592G>T (p.Gly198Ter) c.316G>T (p.Gly106Ter) c.97G>T (p.Gly33Ter) | |
11 | g.67610490G>A | CA381537002 | NDUFV1 | c.620G>A (p.Gly207Glu) c.599G>A (p.Gly200Glu) n.362G>A n.479G>A c.593G>A (p.Gly198Glu) c.317G>A (p.Gly106Glu) c.98G>A (p.Gly33Glu) | dbSNP |
11 | g.67610490G>C | CA381537005 | NDUFV1 | c.620G>C (p.Gly207Ala) c.599G>C (p.Gly200Ala) n.362G>C n.479G>C c.593G>C (p.Gly198Ala) c.317G>C (p.Gly106Ala) c.98G>C (p.Gly33Ala) | |
11 | g.67610490G= | CA1980190000 | NDUFV1 | c.620G= (p.Gly207=) c.599G= (p.Gly200=) n.362G= n.479G= c.593G= (p.Gly198=) c.317G= (p.Gly106=) c.98G= (p.Gly33=) | |
11 | g.67610490G>T | CA381537007 | NDUFV1 | c.620G>T (p.Gly207Val) c.599G>T (p.Gly200Val) n.362G>T n.479G>T c.593G>T (p.Gly198Val) c.317G>T (p.Gly106Val) c.98G>T (p.Gly33Val) | |
11 | g.67610491A>C | CA475412662 | NDUFV1 | c.621A>C (p.Gly207=) c.600A>C (p.Gly200=) n.363A>C n.480A>C c.594A>C (p.Gly198=) c.318A>C (p.Gly106=) c.99A>C (p.Gly33=) | |
11 | g.67610491A>G | CA475412664 | NDUFV1 | c.621A>G (p.Gly207=) c.600A>G (p.Gly200=) n.363A>G n.480A>G c.594A>G (p.Gly198=) c.318A>G (p.Gly106=) c.99A>G (p.Gly33=) | dbSNP |
11 | g.67610491A>T | CA475412667 | NDUFV1 | c.621A>T (p.Gly207=) c.600A>T (p.Gly200=) n.363A>T n.480A>T c.594A>T (p.Gly198=) c.318A>T (p.Gly106=) c.99A>T (p.Gly33=) | |
11 | g.67610492G>A | CA381537010 | NDUFV1 | c.622G>A (p.Glu208Lys) c.601G>A (p.Glu201Lys) n.364G>A n.481G>A c.595G>A (p.Glu199Lys) c.319G>A (p.Glu107Lys) c.100G>A (p.Glu34Lys) | |
11 | g.67610492G>C | CA381537012 | NDUFV1 | c.622G>C (p.Glu208Gln) c.601G>C (p.Glu201Gln) n.364G>C n.481G>C c.595G>C (p.Glu199Gln) c.319G>C (p.Glu107Gln) c.100G>C (p.Glu34Gln) | |
11 | g.67610492G>T | CA381537013 | NDUFV1 | c.622G>T (p.Glu208Ter) c.601G>T (p.Glu201Ter) n.364G>T n.481G>T c.595G>T (p.Glu199Ter) c.319G>T (p.Glu107Ter) c.100G>T (p.Glu34Ter) | |
11 | g.67610493A>C | CA381537016 | NDUFV1 | c.623A>C (p.Glu208Ala) c.602A>C (p.Glu201Ala) n.365A>C n.482A>C c.596A>C (p.Glu199Ala) c.320A>C (p.Glu107Ala) c.101A>C (p.Glu34Ala) | |
11 | g.67610493A>G | CA381537019 | NDUFV1 | c.623A>G (p.Glu208Gly) c.602A>G (p.Glu201Gly) n.365A>G n.482A>G c.596A>G (p.Glu199Gly) c.320A>G (p.Glu107Gly) c.101A>G (p.Glu34Gly) | |
11 | g.67610493A>T | CA381537015 | NDUFV1 | c.623A>T (p.Glu208Val) c.602A>T (p.Glu201Val) n.365A>T n.482A>T c.596A>T (p.Glu199Val) c.320A>T (p.Glu107Val) c.101A>T (p.Glu34Val) | |
11 | g.67610494G>A | CA475412679 | NDUFV1 | c.624G>A (p.Glu208=) c.603G>A (p.Glu201=) n.366G>A n.483G>A c.597G>A (p.Glu199=) c.321G>A (p.Glu107=) c.102G>A (p.Glu34=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610494G>C | CA381537021 | NDUFV1 | c.624G>C (p.Glu208Asp) c.603G>C (p.Glu201Asp) n.366G>C n.483G>C c.597G>C (p.Glu199Asp) c.321G>C (p.Glu107Asp) c.102G>C (p.Glu34Asp) | |
11 | g.67610494G= | CA1980190003 | NDUFV1 | c.624G= (p.Glu208=) c.603G= (p.Glu201=) n.366G= n.483G= c.597G= (p.Glu199=) c.321G= (p.Glu107=) c.102G= (p.Glu34=) | |
11 | g.67610494G>T | CA381537024 | NDUFV1 | c.624G>T (p.Glu208Asp) c.603G>T (p.Glu201Asp) n.366G>T n.483G>T c.597G>T (p.Glu199Asp) c.321G>T (p.Glu107Asp) c.102G>T (p.Glu34Asp) | |
11 | g.67610495G>A | CA381537026 | NDUFV1 | c.625G>A (p.Glu209Lys) c.604G>A (p.Glu202Lys) n.367G>A n.484G>A c.598G>A (p.Glu200Lys) c.322G>A (p.Glu108Lys) c.103G>A (p.Glu35Lys) | |
11 | g.67610495G>C | CA381537027 | NDUFV1 | c.625G>C (p.Glu209Gln) c.604G>C (p.Glu202Gln) n.367G>C n.484G>C c.598G>C (p.Glu200Gln) c.322G>C (p.Glu108Gln) c.103G>C (p.Glu35Gln) | gnomAD v4 |
11 | g.67610495G>T | CA381537029 | NDUFV1 | c.625G>T (p.Glu209Ter) c.604G>T (p.Glu202Ter) n.367G>T n.484G>T c.598G>T (p.Glu200Ter) c.322G>T (p.Glu108Ter) c.103G>T (p.Glu35Ter) | |
11 | g.67610496A>C | CA381537039 | NDUFV1 | c.626A>C (p.Glu209Ala) c.605A>C (p.Glu202Ala) n.368A>C n.485A>C c.599A>C (p.Glu200Ala) c.323A>C (p.Glu108Ala) c.104A>C (p.Glu35Ala) | |
11 | g.67610496A>G | CA381537032 | NDUFV1 | c.626A>G (p.Glu209Gly) c.605A>G (p.Glu202Gly) n.368A>G n.485A>G c.599A>G (p.Glu200Gly) c.323A>G (p.Glu108Gly) c.104A>G (p.Glu35Gly) | |
11 | g.67610496A>T | CA381537037 | NDUFV1 | c.626A>T (p.Glu209Val) c.605A>T (p.Glu202Val) n.368A>T n.485A>T c.599A>T (p.Glu200Val) c.323A>T (p.Glu108Val) c.104A>T (p.Glu35Val) | |
11 | g.67610497G>A | CA475412693 | NDUFV1 | c.627G>A (p.Glu209=) c.606G>A (p.Glu202=) n.369G>A n.486G>A c.600G>A (p.Glu200=) c.324G>A (p.Glu108=) c.105G>A (p.Glu35=) | |
11 | g.67610497G>C | CA381537041 | NDUFV1 | c.627G>C (p.Glu209Asp) c.606G>C (p.Glu202Asp) n.369G>C n.486G>C c.600G>C (p.Glu200Asp) c.324G>C (p.Glu108Asp) c.105G>C (p.Glu35Asp) | |
11 | g.67610497G>T | CA381537043 | NDUFV1 | c.627G>T (p.Glu209Asp) c.606G>T (p.Glu202Asp) n.369G>T n.486G>T c.600G>T (p.Glu200Asp) c.324G>T (p.Glu108Asp) c.105G>T (p.Glu35Asp) | |
11 | g.67610498A>C | CA381537046 | NDUFV1 | c.628A>C (p.Thr210Pro) c.607A>C (p.Thr203Pro) n.370A>C n.487A>C c.601A>C (p.Thr201Pro) c.325A>C (p.Thr109Pro) c.106A>C (p.Thr36Pro) | |
11 | g.67610498A>G | CA381537047 | NDUFV1 | c.628A>G (p.Thr210Ala) c.607A>G (p.Thr203Ala) n.370A>G n.487A>G c.601A>G (p.Thr201Ala) c.325A>G (p.Thr109Ala) c.106A>G (p.Thr36Ala) | |
11 | g.67610498A>T | CA381537048 | NDUFV1 | c.628A>T (p.Thr210Ser) c.607A>T (p.Thr203Ser) n.370A>T n.487A>T c.601A>T (p.Thr201Ser) c.325A>T (p.Thr109Ser) c.106A>T (p.Thr36Ser) | |
11 | g.67610499C>A | CA381537049 | NDUFV1 | c.629C>A (p.Thr210Lys) c.608C>A (p.Thr203Lys) n.371C>A n.488C>A c.602C>A (p.Thr201Lys) c.326C>A (p.Thr109Lys) c.107C>A (p.Thr36Lys) | |
11 | g.67610499C= | CA1980190009 | NDUFV1 | c.629C= (p.Thr210=) c.608C= (p.Thr203=) n.371C= n.488C= c.602C= (p.Thr201=) c.326C= (p.Thr109=) c.107C= (p.Thr36=) | |
11 | g.67610499C>G | CA381537055 | NDUFV1 | c.629C>G (p.Thr210Arg) c.608C>G (p.Thr203Arg) n.371C>G n.488C>G c.602C>G (p.Thr201Arg) c.326C>G (p.Thr109Arg) c.107C>G (p.Thr36Arg) | gnomAD v4 |
11 | g.67610499C>T | CA6143226 | NDUFV1 | c.629C>T (p.Thr210Ile) c.608C>T (p.Thr203Ile) n.371C>T n.488C>T c.602C>T (p.Thr201Ile) c.326C>T (p.Thr109Ile) c.107C>T (p.Thr36Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67610500A= | CA1980190013 | NDUFV1 | c.630A= (p.Thr210=) c.609A= (p.Thr203=) n.372A= n.489A= c.603A= (p.Thr201=) c.327A= (p.Thr109=) c.108A= (p.Thr36=) | |
11 | g.67610500A>C | CA475412708 | NDUFV1 | c.630A>C (p.Thr210=) c.609A>C (p.Thr203=) n.372A>C n.489A>C c.603A>C (p.Thr201=) c.327A>C (p.Thr109=) c.108A>C (p.Thr36=) | dbSNP |
11 | g.67610500A>G | CA475412706 | NDUFV1 | c.630A>G (p.Thr210=) c.609A>G (p.Thr203=) n.372A>G n.489A>G c.603A>G (p.Thr201=) c.327A>G (p.Thr109=) c.108A>G (p.Thr36=) | dbSNP |
11 | g.67610500A>T | CA475412711 | NDUFV1 | c.630A>T (p.Thr210=) c.609A>T (p.Thr203=) n.372A>T n.489A>T c.603A>T (p.Thr201=) c.327A>T (p.Thr109=) c.108A>T (p.Thr36=) | |
11 | g.67610501G>A | CA381537056 | NDUFV1 | c.631G>A (p.Ala211Thr) c.610G>A (p.Ala204Thr) n.373G>A n.490G>A c.604G>A (p.Ala202Thr) c.328G>A (p.Ala110Thr) c.109G>A (p.Ala37Thr) | |
11 | g.67610501G>C | CA381537061 | NDUFV1 | c.631G>C (p.Ala211Pro) c.610G>C (p.Ala204Pro) n.373G>C n.490G>C c.604G>C (p.Ala202Pro) c.328G>C (p.Ala110Pro) c.109G>C (p.Ala37Pro) | |
11 | g.67610501G>T | CA381537063 | NDUFV1 | c.631G>T (p.Ala211Ser) c.610G>T (p.Ala204Ser) n.373G>T n.490G>T c.604G>T (p.Ala202Ser) c.328G>T (p.Ala110Ser) c.109G>T (p.Ala37Ser) | |
11 | g.67610502C>A | CA381537066 | NDUFV1 | c.632C>A (p.Ala211Glu) c.611C>A (p.Ala204Glu) n.374C>A n.491C>A c.605C>A (p.Ala202Glu) c.329C>A (p.Ala110Glu) c.110C>A (p.Ala37Glu) | |
11 | g.67610502C= | CA1980190016 | NDUFV1 | c.632C= (p.Ala211=) c.611C= (p.Ala204=) n.374C= n.491C= c.605C= (p.Ala202=) c.329C= (p.Ala110=) c.110C= (p.Ala37=) | |
11 | g.67610502C>G | CA381537068 | NDUFV1 | c.632C>G (p.Ala211Gly) c.611C>G (p.Ala204Gly) n.374C>G n.491C>G c.605C>G (p.Ala202Gly) c.329C>G (p.Ala110Gly) c.110C>G (p.Ala37Gly) | |
11 | g.67610502C>T | CA6143227 | NDUFV1 | c.632C>T (p.Ala211Val) c.611C>T (p.Ala204Val) n.374C>T n.491C>T c.605C>T (p.Ala202Val) c.329C>T (p.Ala110Val) c.110C>T (p.Ala37Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.67610503G>A | CA6143228 | NDUFV1 | c.633G>A (p.Ala211=) c.612G>A (p.Ala204=) n.375G>A n.492G>A c.606G>A (p.Ala202=) c.330G>A (p.Ala110=) c.111G>A (p.Ala37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.67610503G>C | CA6143229 | NDUFV1 | c.633G>C (p.Ala211=) c.612G>C (p.Ala204=) n.375G>C n.492G>C c.606G>C (p.Ala202=) c.330G>C (p.Ala110=) c.111G>C (p.Ala37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67610503G= | CA1980190018 | NDUFV1 | c.633G= (p.Ala211=) c.612G= (p.Ala204=) n.375G= n.492G= c.606G= (p.Ala202=) c.330G= (p.Ala110=) c.111G= (p.Ala37=) | |
11 | g.67610503G>T | CA475412727 | NDUFV1 | c.633G>T (p.Ala211=) c.612G>T (p.Ala204=) n.375G>T n.492G>T c.606G>T (p.Ala202=) c.330G>T (p.Ala110=) c.111G>T (p.Ala37=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.67610504C>A | CA381537078 | NDUFV1 | c.634C>A (p.Leu212Ile) c.613C>A (p.Leu205Ile) n.376C>A n.493C>A c.607C>A (p.Leu203Ile) c.331C>A (p.Leu111Ile) c.112C>A (p.Leu38Ile) | |
11 | g.67610504C>G | CA381537079 | NDUFV1 | c.634C>G (p.Leu212Val) c.613C>G (p.Leu205Val) n.376C>G n.493C>G c.607C>G (p.Leu203Val) c.331C>G (p.Leu111Val) c.112C>G (p.Leu38Val) | |
11 | g.67610504C>T | CA381537080 | NDUFV1 | c.634C>T (p.Leu212Phe) c.613C>T (p.Leu205Phe) n.376C>T n.493C>T c.607C>T (p.Leu203Phe) c.331C>T (p.Leu111Phe) c.112C>T (p.Leu38Phe) | |
11 | g.67610504_67610507delinsCTCA | CA1980190025 | NDUFV1 | c.634_637delinsCTCA (p.Leu212=) c.613_616delinsCTCA (p.Leu205=) n.376_379delinsCTCA n.493_496delinsCTCA c.607_610delinsCTCA (p.Leu203=) c.331_334delinsCTCA (p.Leu111=) c.112_115delinsCTCA (p.Leu38=) | |
11 | g.67610505T>A | CA381537086 | NDUFV1 | c.635T>A (p.Leu212His) c.614T>A (p.Leu205His) n.377T>A n.494T>A c.608T>A (p.Leu203His) c.332T>A (p.Leu111His) c.113T>A (p.Leu38His) | |
11 | g.67610505T>C | CA381537085 | NDUFV1 | c.635T>C (p.Leu212Pro) c.614T>C (p.Leu205Pro) n.377T>C n.494T>C c.608T>C (p.Leu203Pro) c.332T>C (p.Leu111Pro) c.113T>C (p.Leu38Pro) | dbSNP gnomAD v4 |
11 | g.67610505T>G | CA381537082 | NDUFV1 | c.635T>G (p.Leu212Arg) c.614T>G (p.Leu205Arg) n.377T>G n.494T>G c.608T>G (p.Leu203Arg) c.332T>G (p.Leu111Arg) c.113T>G (p.Leu38Arg) | |
11 | g.67610505T= | CA1980190028 | NDUFV1 | c.635T= (p.Leu212=) c.614T= (p.Leu205=) n.377T= n.494T= c.608T= (p.Leu203=) c.332T= (p.Leu111=) c.113T= (p.Leu38=) | |
11 | g.67610507_67610509del | CA600237133 | NDUFV1 | c.637_639del (p.Ile213del) c.616_618del (p.Ile206del) n.379_381del n.496_498del c.610_612del (p.Ile204del) c.334_336del (p.Ile112del) c.115_117del (p.Ile39del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610506C>A | CA475412738 | NDUFV1 | c.636C>A (p.Leu212=) c.615C>A (p.Leu205=) n.378C>A n.495C>A c.609C>A (p.Leu203=) c.333C>A (p.Leu111=) c.114C>A (p.Leu38=) | |
11 | g.67610506C>G | CA475412740 | NDUFV1 | c.636C>G (p.Leu212=) c.615C>G (p.Leu205=) n.378C>G n.495C>G c.609C>G (p.Leu203=) c.333C>G (p.Leu111=) c.114C>G (p.Leu38=) | |
11 | g.67610506C>T | CA475412743 | NDUFV1 | c.636C>T (p.Leu212=) c.615C>T (p.Leu205=) n.378C>T n.495C>T c.609C>T (p.Leu203=) c.333C>T (p.Leu111=) c.114C>T (p.Leu38=) | |
11 | g.67610507A>C | CA381537089 | NDUFV1 | c.637A>C (p.Ile213Leu) c.616A>C (p.Ile206Leu) n.379A>C n.496A>C c.610A>C (p.Ile204Leu) c.334A>C (p.Ile112Leu) c.115A>C (p.Ile39Leu) | dbSNP |
11 | g.67610507A>G | CA381537093 | NDUFV1 | c.637A>G (p.Ile213Val) c.616A>G (p.Ile206Val) n.379A>G n.496A>G c.610A>G (p.Ile204Val) c.334A>G (p.Ile112Val) c.115A>G (p.Ile39Val) | |
11 | g.67610507A>T | CA381537092 | NDUFV1 | c.637A>T (p.Ile213Phe) c.616A>T (p.Ile206Phe) n.379A>T n.496A>T c.610A>T (p.Ile204Phe) c.334A>T (p.Ile112Phe) c.115A>T (p.Ile39Phe) | |
11 | g.67610508T>A | CA381537094 | NDUFV1 | c.638T>A (p.Ile213Asn) c.617T>A (p.Ile206Asn) n.380T>A n.497T>A c.611T>A (p.Ile204Asn) c.335T>A (p.Ile112Asn) c.116T>A (p.Ile39Asn) | |
11 | g.67610508T>C | CA381537095 | NDUFV1 | c.638T>C (p.Ile213Thr) c.617T>C (p.Ile206Thr) n.380T>C n.497T>C c.611T>C (p.Ile204Thr) c.335T>C (p.Ile112Thr) c.116T>C (p.Ile39Thr) | |
11 | g.67610508T>G | CA381537096 | NDUFV1 | c.638T>G (p.Ile213Ser) c.617T>G (p.Ile206Ser) n.380T>G n.497T>G c.611T>G (p.Ile204Ser) c.335T>G (p.Ile112Ser) c.116T>G (p.Ile39Ser) | |
11 | g.67610509C>A | CA475412754 | NDUFV1 | c.639C>A (p.Ile213=) c.618C>A (p.Ile206=) n.381C>A n.498C>A c.612C>A (p.Ile204=) c.336C>A (p.Ile112=) c.117C>A (p.Ile39=) | |
11 | g.67610509C= | CA1980190030 | NDUFV1 | c.639C= (p.Ile213=) c.618C= (p.Ile206=) n.381C= n.498C= c.612C= (p.Ile204=) c.336C= (p.Ile112=) c.117C= (p.Ile39=) | |
11 | g.67610509C>G | CA381537098 | NDUFV1 | c.639C>G (p.Ile213Met) c.618C>G (p.Ile206Met) n.381C>G n.498C>G c.612C>G (p.Ile204Met) c.336C>G (p.Ile112Met) c.117C>G (p.Ile39Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610509C>T | CA6143230 | NDUFV1 | c.639C>T (p.Ile213=) c.618C>T (p.Ile206=) n.381C>T n.498C>T c.612C>T (p.Ile204=) c.336C>T (p.Ile112=) c.117C>T (p.Ile39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610510G>A | CA123738 | NDUFV1 | c.640G>A (p.Glu214Lys) c.619G>A (p.Glu207Lys) n.382G>A n.499G>A c.613G>A (p.Glu205Lys) c.337G>A (p.Glu113Lys) c.118G>A (p.Glu40Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610510G>C | CA381537107 | NDUFV1 | c.640G>C (p.Glu214Gln) c.619G>C (p.Glu207Gln) n.382G>C n.499G>C c.613G>C (p.Glu205Gln) c.337G>C (p.Glu113Gln) c.118G>C (p.Glu40Gln) | gnomAD v4 |
11 | g.67610510G= | CA1980190036 | NDUFV1 | c.640G= (p.Glu214=) c.619G= (p.Glu207=) n.382G= n.499G= c.613G= (p.Glu205=) c.337G= (p.Glu113=) c.118G= (p.Glu40=) | |
11 | g.67610510G>T | CA381537108 | NDUFV1 | c.640G>T (p.Glu214Ter) c.619G>T (p.Glu207Ter) n.382G>T n.499G>T c.613G>T (p.Glu205Ter) c.337G>T (p.Glu113Ter) c.118G>T (p.Glu40Ter) | |
11 | g.67610511A>C | CA381537110 | NDUFV1 | c.641A>C (p.Glu214Ala) c.620A>C (p.Glu207Ala) n.383A>C n.500A>C c.614A>C (p.Glu205Ala) c.338A>C (p.Glu113Ala) c.119A>C (p.Glu40Ala) | |
11 | g.67610511A>G | CA381537113 | NDUFV1 | c.641A>G (p.Glu214Gly) c.620A>G (p.Glu207Gly) n.383A>G n.500A>G c.614A>G (p.Glu205Gly) c.338A>G (p.Glu113Gly) c.119A>G (p.Glu40Gly) | gnomAD v4 |
11 | g.67610511A>T | CA381537114 | NDUFV1 | c.641A>T (p.Glu214Val) c.620A>T (p.Glu207Val) n.383A>T n.500A>T c.614A>T (p.Glu205Val) c.338A>T (p.Glu113Val) c.119A>T (p.Glu40Val) | |
11 | g.67610512G>A | CA475412771 | NDUFV1 | c.642G>A (p.Glu214=) c.621G>A (p.Glu207=) n.384G>A n.501G>A c.615G>A (p.Glu205=) c.339G>A (p.Glu113=) c.120G>A (p.Glu40=) | |
11 | g.67610512G>C | CA381537117 | NDUFV1 | c.642G>C (p.Glu214Asp) c.621G>C (p.Glu207Asp) n.384G>C n.501G>C c.615G>C (p.Glu205Asp) c.339G>C (p.Glu113Asp) c.120G>C (p.Glu40Asp) | |
11 | g.67610512G>T | CA381537124 | NDUFV1 | c.642G>T (p.Glu214Asp) c.621G>T (p.Glu207Asp) n.384G>T n.501G>T c.615G>T (p.Glu205Asp) c.339G>T (p.Glu113Asp) c.120G>T (p.Glu40Asp) | |
11 | g.67610513T>A | CA381537127 | NDUFV1 | c.643T>A (p.Ser215Thr) c.622T>A (p.Ser208Thr) n.385T>A n.502T>A c.616T>A (p.Ser206Thr) c.340T>A (p.Ser114Thr) c.121T>A (p.Ser41Thr) | |
11 | g.67610513T>C | CA381537137 | NDUFV1 | c.643T>C (p.Ser215Pro) c.622T>C (p.Ser208Pro) n.385T>C n.502T>C c.616T>C (p.Ser206Pro) c.340T>C (p.Ser114Pro) c.121T>C (p.Ser41Pro) | |
11 | g.67610513T>G | CA381537134 | NDUFV1 | c.643T>G (p.Ser215Ala) c.622T>G (p.Ser208Ala) n.385T>G n.502T>G c.616T>G (p.Ser206Ala) c.340T>G (p.Ser114Ala) c.121T>G (p.Ser41Ala) | |
11 | g.67610514C>A | CA381537141 | NDUFV1 | c.644C>A (p.Ser215Tyr) c.623C>A (p.Ser208Tyr) n.386C>A n.503C>A c.617C>A (p.Ser206Tyr) c.341C>A (p.Ser114Tyr) c.122C>A (p.Ser41Tyr) | |
11 | g.67610514C>G | CA381537143 | NDUFV1 | c.644C>G (p.Ser215Cys) c.623C>G (p.Ser208Cys) n.386C>G n.503C>G c.617C>G (p.Ser206Cys) c.341C>G (p.Ser114Cys) c.122C>G (p.Ser41Cys) | |
11 | g.67610514C>T | CA381537146 | NDUFV1 | c.644C>T (p.Ser215Phe) c.623C>T (p.Ser208Phe) n.386C>T n.503C>T c.617C>T (p.Ser206Phe) c.341C>T (p.Ser114Phe) c.122C>T (p.Ser41Phe) | |
11 | g.67610515C>A | CA475412795 | NDUFV1 | c.645C>A (p.Ser215=) c.624C>A (p.Ser208=) n.387C>A n.504C>A c.618C>A (p.Ser206=) c.342C>A (p.Ser114=) c.123C>A (p.Ser41=) | |
11 | g.67610515C= | CA1980190039 | NDUFV1 | c.645C= (p.Ser215=) c.624C= (p.Ser208=) n.387C= n.504C= c.618C= (p.Ser206=) c.342C= (p.Ser114=) c.123C= (p.Ser41=) | |
11 | g.67610515C>G | CA475412792 | NDUFV1 | c.645C>G (p.Ser215=) c.624C>G (p.Ser208=) n.387C>G n.504C>G c.618C>G (p.Ser206=) c.342C>G (p.Ser114=) c.123C>G (p.Ser41=) | |
11 | g.67610515C>T | CA475412790 | NDUFV1 | c.645C>T (p.Ser215=) c.624C>T (p.Ser208=) n.387C>T n.504C>T c.618C>T (p.Ser206=) c.342C>T (p.Ser114=) c.123C>T (p.Ser41=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610516A= | CA1980190041 | NDUFV1 | c.646A= (p.Ile216=) c.625A= (p.Ile209=) n.388A= n.505A= c.619A= (p.Ile207=) c.343A= (p.Ile115=) c.124A= (p.Ile42=) | |
11 | g.67610516A>C | CA381537150 | NDUFV1 | c.646A>C (p.Ile216Leu) c.625A>C (p.Ile209Leu) n.388A>C n.505A>C c.619A>C (p.Ile207Leu) c.343A>C (p.Ile115Leu) c.124A>C (p.Ile42Leu) | dbSNP |
11 | g.67610516A>G | CA381537156 | NDUFV1 | c.646A>G (p.Ile216Val) c.625A>G (p.Ile209Val) n.388A>G n.505A>G c.619A>G (p.Ile207Val) c.343A>G (p.Ile115Val) c.124A>G (p.Ile42Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.67610516A>T | CA381537159 | NDUFV1 | c.646A>T (p.Ile216Phe) c.625A>T (p.Ile209Phe) n.388A>T n.505A>T c.619A>T (p.Ile207Phe) c.343A>T (p.Ile115Phe) c.124A>T (p.Ile42Phe) | |
11 | g.67610517T>A | CA381537162 | NDUFV1 | c.647T>A (p.Ile216Asn) c.626T>A (p.Ile209Asn) n.389T>A n.506T>A c.620T>A (p.Ile207Asn) c.344T>A (p.Ile115Asn) c.125T>A (p.Ile42Asn) | |
11 | g.67610517T>C | CA6143231 | NDUFV1 | c.647T>C (p.Ile216Thr) c.626T>C (p.Ile209Thr) n.389T>C n.506T>C c.620T>C (p.Ile207Thr) c.344T>C (p.Ile115Thr) c.125T>C (p.Ile42Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610517T>G | CA381537167 | NDUFV1 | c.647T>G (p.Ile216Ser) c.626T>G (p.Ile209Ser) n.389T>G n.506T>G c.620T>G (p.Ile207Ser) c.344T>G (p.Ile115Ser) c.125T>G (p.Ile42Ser) | |
11 | g.67610517T= | CA1980190044 | NDUFV1 | c.647T= (p.Ile216=) c.626T= (p.Ile209=) n.389T= n.506T= c.620T= (p.Ile207=) c.344T= (p.Ile115=) c.125T= (p.Ile42=) | |
11 | g.67610518T>A | CA475412806 | NDUFV1 | c.648T>A (p.Ile216=) c.627T>A (p.Ile209=) n.390T>A n.507T>A c.621T>A (p.Ile207=) c.345T>A (p.Ile115=) c.126T>A (p.Ile42=) | |
11 | g.67610518T>C | CA224180266 | NDUFV1 | c.648T>C (p.Ile216=) c.627T>C (p.Ile209=) n.390T>C n.507T>C c.621T>C (p.Ile207=) c.345T>C (p.Ile115=) c.126T>C (p.Ile42=) | ClinVar dbSNP |
11 | g.67610518T>G | CA381537173 | NDUFV1 | c.648T>G (p.Ile216Met) c.627T>G (p.Ile209Met) n.390T>G n.507T>G c.621T>G (p.Ile207Met) c.345T>G (p.Ile115Met) c.126T>G (p.Ile42Met) | |
11 | g.67610518T= | CA1980190048 | NDUFV1 | c.648T= (p.Ile216=) c.627T= (p.Ile209=) n.390T= n.507T= c.621T= (p.Ile207=) c.345T= (p.Ile115=) c.126T= (p.Ile42=) | |
11 | g.67610519G>A | CA381537177 | NDUFV1 | c.649G>A (p.Glu217Lys) c.628G>A (p.Glu210Lys) n.391G>A n.508G>A c.622G>A (p.Glu208Lys) c.346G>A (p.Glu116Lys) c.127G>A (p.Glu43Lys) | |
11 | g.67610519G>C | CA381537176 | NDUFV1 | c.649G>C (p.Glu217Gln) c.628G>C (p.Glu210Gln) n.391G>C n.508G>C c.622G>C (p.Glu208Gln) c.346G>C (p.Glu116Gln) c.127G>C (p.Glu43Gln) | |
11 | g.67610519G>T | CA381537175 | NDUFV1 | c.649G>T (p.Glu217Ter) c.628G>T (p.Glu210Ter) n.391G>T n.508G>T c.622G>T (p.Glu208Ter) c.346G>T (p.Glu116Ter) c.127G>T (p.Glu43Ter) | |
11 | g.67610519_67610528delinsGAGGGCAAGC | CA1980190052 | NDUFV1 | c.649_658delinsGAGGGCAAGC (p.Glu217=) c.628_637delinsGAGGGCAAGC (p.Glu210=) n.391_400delinsGAGGGCAAGC n.508_517delinsGAGGGCAAGC c.622_631delinsGAGGGCAAGC (p.Glu208=) c.346_355delinsGAGGGCAAGC (p.Glu116=) c.127_136delinsGAGGGCAAGC (p.Glu43=) | |
11 | g.67610520A= | CA1980190062 | NDUFV1 | c.650A= (p.Glu217=) c.629A= (p.Glu210=) n.392A= n.509A= c.623A= (p.Glu208=) c.347A= (p.Glu116=) c.128A= (p.Glu43=) | |
11 | g.67610520A>C | CA381537179 | NDUFV1 | c.650A>C (p.Glu217Ala) c.629A>C (p.Glu210Ala) n.392A>C n.509A>C c.623A>C (p.Glu208Ala) c.347A>C (p.Glu116Ala) c.128A>C (p.Glu43Ala) | |
11 | g.67610520A>G | CA381537181 | NDUFV1 | c.650A>G (p.Glu217Gly) c.629A>G (p.Glu210Gly) n.392A>G n.509A>G c.623A>G (p.Glu208Gly) c.347A>G (p.Glu116Gly) c.128A>G (p.Glu43Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.67610520A>T | CA381537183 | NDUFV1 | c.650A>T (p.Glu217Val) c.629A>T (p.Glu210Val) n.392A>T n.509A>T c.623A>T (p.Glu208Val) c.347A>T (p.Glu116Val) c.128A>T (p.Glu43Val) | |
11 | g.67610529_67610537dup | CA6143232 | NDUFV1 | c.659_667dup (p.Lys222_Pro223insGlnGlyLys) c.638_646dup (p.Lys215_Pro216insGlnGlyLys) n.401_409dup n.518_526dup c.632_640dup (p.Lys213_Pro214insGlnGlyLys) c.356_364dup (p.Lys121_Pro122insGlnGlyLys) c.137_145dup (p.Lys48_Pro49insGlnGlyLys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67610529_67610537del | CA600237134 | NDUFV1 | c.659_667del (p.Gln220_Lys222del) c.638_646del (p.Gln213_Lys215del) n.401_409del n.518_526del c.632_640del (p.Gln211_Lys213del) c.356_364del (p.Gln119_Lys121del) c.137_145del (p.Gln46_Lys48del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67610521G>A | CA475412823 | NDUFV1 | c.651G>A (p.Glu217=) c.630G>A (p.Glu210=) n.393G>A n.510G>A c.624G>A (p.Glu208=) c.348G>A (p.Glu116=) c.129G>A (p.Glu43=) | |
11 | g.67610521G>C | CA381537184 | NDUFV1 | c.651G>C (p.Glu217Asp) c.630G>C (p.Glu210Asp) n.393G>C n.510G>C c.624G>C (p.Glu208Asp) c.348G>C (p.Glu116Asp) c.129G>C (p.Glu43Asp) | |
11 | g.67610521G>T | CA381537185 | NDUFV1 | c.651G>T (p.Glu217Asp) c.630G>T (p.Glu210Asp) n.393G>T n.510G>T c.624G>T (p.Glu208Asp) c.348G>T (p.Glu116Asp) c.129G>T (p.Glu43Asp) | |
11 | g.67610522G>A | CA381537189 | NDUFV1 | c.652G>A (p.Gly218Ser) c.631G>A (p.Gly211Ser) n.394G>A n.511G>A c.625G>A (p.Gly209Ser) c.349G>A (p.Gly117Ser) c.130G>A (p.Gly44Ser) | dbSNP |
11 | g.67610522G>C | CA381537191 | NDUFV1 | c.652G>C (p.Gly218Arg) c.631G>C (p.Gly211Arg) n.394G>C n.511G>C c.625G>C (p.Gly209Arg) c.349G>C (p.Gly117Arg) c.130G>C (p.Gly44Arg) | |
11 | g.67610522G= | CA1980190067 | NDUFV1 | c.652G= (p.Gly218=) c.631G= (p.Gly211=) n.394G= n.511G= c.625G= (p.Gly209=) c.349G= (p.Gly117=) c.130G= (p.Gly44=) | |
11 | g.67610522G>T | CA381537194 | NDUFV1 | c.652G>T (p.Gly218Cys) c.631G>T (p.Gly211Cys) n.394G>T n.511G>T c.625G>T (p.Gly209Cys) c.349G>T (p.Gly117Cys) c.130G>T (p.Gly44Cys) | |
11 | g.67610523G>A | CA381537197 | NDUFV1 | c.653G>A (p.Gly218Asp) c.632G>A (p.Gly211Asp) n.395G>A n.512G>A c.626G>A (p.Gly209Asp) c.350G>A (p.Gly117Asp) c.131G>A (p.Gly44Asp) | gnomAD v4 |
11 | g.67610523G>C | CA381537201 | NDUFV1 | c.653G>C (p.Gly218Ala) c.632G>C (p.Gly211Ala) n.395G>C n.512G>C c.626G>C (p.Gly209Ala) c.350G>C (p.Gly117Ala) c.131G>C (p.Gly44Ala) | |
11 | g.67610523G= | CA1980190070 | NDUFV1 | c.653G= (p.Gly218=) c.632G= (p.Gly211=) n.395G= n.512G= c.626G= (p.Gly209=) c.350G= (p.Gly117=) c.131G= (p.Gly44=) | |
11 | g.67610523G>T | CA381537203 | NDUFV1 | c.653G>T (p.Gly218Val) c.632G>T (p.Gly211Val) n.395G>T n.512G>T c.626G>T (p.Gly209Val) c.350G>T (p.Gly117Val) c.131G>T (p.Gly44Val) | |
11 | g.67610523_67610524insTA | CA918903884 | NDUFV1 | c.653_654insTA (p.Lys219ThrfsTer8) c.632_633insTA (p.Lys212ThrfsTer8) n.395_396insTA n.512_513insTA c.626_627insTA (p.Lys210ThrfsTer8) c.350_351insTA (p.Lys118ThrfsTer8) c.131_132insTA (p.Lys45ThrfsTer8) | dbSNP gnomAD v4 |
11 | g.67610524C>A | CA475412829 | NDUFV1 | c.654C>A (p.Gly218=) c.633C>A (p.Gly211=) n.396C>A n.513C>A c.627C>A (p.Gly209=) c.351C>A (p.Gly117=) c.132C>A (p.Gly44=) | |
11 | g.67610524C>G | CA475412830 | NDUFV1 | c.654C>G (p.Gly218=) c.633C>G (p.Gly211=) n.396C>G n.513C>G c.627C>G (p.Gly209=) c.351C>G (p.Gly117=) c.132C>G (p.Gly44=) | |
11 | g.67610524C>T | CA475412831 | NDUFV1 | c.654C>T (p.Gly218=) c.633C>T (p.Gly211=) n.396C>T n.513C>T c.627C>T (p.Gly209=) c.351C>T (p.Gly117=) c.132C>T (p.Gly44=) | |
11 | g.67610525A>C | CA381537214 | NDUFV1 | c.655A>C (p.Lys219Gln) c.634A>C (p.Lys212Gln) n.397A>C n.514A>C c.628A>C (p.Lys210Gln) c.352A>C (p.Lys118Gln) c.133A>C (p.Lys45Gln) | |
11 | g.67610525A>G | CA381537211 | NDUFV1 | c.655A>G (p.Lys219Glu) c.634A>G (p.Lys212Glu) n.397A>G n.514A>G c.628A>G (p.Lys210Glu) c.352A>G (p.Lys118Glu) c.133A>G (p.Lys45Glu) | |
11 | g.67610525A>T | CA381537209 | NDUFV1 | c.655A>T (p.Lys219Ter) c.634A>T (p.Lys212Ter) n.397A>T n.514A>T c.628A>T (p.Lys210Ter) c.352A>T (p.Lys118Ter) c.133A>T (p.Lys45Ter) | ClinVar |
11 | g.67610525_67610527delinsAAG | CA1980190072 | NDUFV1 | c.655_657delinsAAG (p.Lys219=) c.634_636delinsAAG (p.Lys212=) n.397_399delinsAAG n.514_516delinsAAG c.628_630delinsAAG (p.Lys210=) c.352_354delinsAAG (p.Lys118=) c.133_135delinsAAG (p.Lys45=) | |
11 | g.67610526A>C | CA381537217 | NDUFV1 | c.656A>C (p.Lys219Thr) c.635A>C (p.Lys212Thr) n.398A>C n.515A>C c.629A>C (p.Lys210Thr) c.353A>C (p.Lys118Thr) c.134A>C (p.Lys45Thr) | |
11 | g.67610526A>G | CA381537218 | NDUFV1 | c.656A>G (p.Lys219Arg) c.635A>G (p.Lys212Arg) n.398A>G n.515A>G c.629A>G (p.Lys210Arg) c.353A>G (p.Lys118Arg) c.134A>G (p.Lys45Arg) | |
11 | g.67610526A>T | CA381537219 | NDUFV1 | c.656A>T (p.Lys219Met) c.635A>T (p.Lys212Met) n.398A>T n.515A>T c.629A>T (p.Lys210Met) c.353A>T (p.Lys118Met) c.134A>T (p.Lys45Met) | |
11 | g.67610526_67610527del | CA918903885 | NDUFV1 | c.656_657del (p.Lys219ThrfsTer?) c.635_636del (p.Lys212ThrfsTer?) n.398_399del n.515_516del c.629_630del (p.Lys210ThrfsTer?) c.353_354del (p.Lys118ThrfsTer16) c.353_354del (p.Lys118ThrfsTer?) c.134_135del (p.Lys45ThrfsTer?) | dbSNP gnomAD v4 |
11 | g.67610527G>A | CA475412832 | NDUFV1 | c.657G>A (p.Lys219=) c.636G>A (p.Lys212=) n.399G>A n.516G>A c.630G>A (p.Lys210=) c.354G>A (p.Lys118=) c.135G>A (p.Lys45=) | |
11 | g.67610527G>C | CA6143233 | NDUFV1 | c.657G>C (p.Lys219Asn) c.636G>C (p.Lys212Asn) n.399G>C n.516G>C c.630G>C (p.Lys210Asn) c.354G>C (p.Lys118Asn) c.135G>C (p.Lys45Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67610527G= | CA1980190074 | NDUFV1 | c.657G= (p.Lys219=) c.636G= (p.Lys212=) n.399G= n.516G= c.630G= (p.Lys210=) c.354G= (p.Lys118=) c.135G= (p.Lys45=) | |
11 | g.67610527G>T | CA381537225 | NDUFV1 | c.657G>T (p.Lys219Asn) c.636G>T (p.Lys212Asn) n.399G>T n.516G>T c.630G>T (p.Lys210Asn) c.354G>T (p.Lys118Asn) c.135G>T (p.Lys45Asn) | |
11 | g.67610528C>A | CA381537230 | NDUFV1 | c.658C>A (p.Gln220Lys) c.637C>A (p.Gln213Lys) n.400C>A n.517C>A c.631C>A (p.Gln211Lys) c.355C>A (p.Gln119Lys) c.136C>A (p.Gln46Lys) | dbSNP |
11 | g.67610528C= | CA1980190078 | NDUFV1 | c.658C= (p.Gln220=) c.637C= (p.Gln213=) n.400C= n.517C= c.631C= (p.Gln211=) c.355C= (p.Gln119=) c.136C= (p.Gln46=) | |
11 | g.67610528C>G | CA381537232 | NDUFV1 | c.658C>G (p.Gln220Glu) c.637C>G (p.Gln213Glu) n.400C>G n.517C>G c.631C>G (p.Gln211Glu) c.355C>G (p.Gln119Glu) c.136C>G (p.Gln46Glu) | dbSNP |
11 | g.67610528C>T | CA381537234 | NDUFV1 | c.658C>T (p.Gln220Ter) c.637C>T (p.Gln213Ter) n.400C>T n.517C>T c.631C>T (p.Gln211Ter) c.355C>T (p.Gln119Ter) c.136C>T (p.Gln46Ter) | gnomAD v4 |
11 | g.67610529A= | CA1980190085 | NDUFV1 | c.659A= (p.Gln220=) c.638A= (p.Gln213=) n.401A= n.518A= c.632A= (p.Gln211=) c.356A= (p.Gln119=) c.137A= (p.Gln46=) | |
11 | g.67610529A>C | CA224180278 | NDUFV1 | c.659A>C (p.Gln220Pro) c.638A>C (p.Gln213Pro) n.401A>C n.518A>C c.632A>C (p.Gln211Pro) c.356A>C (p.Gln119Pro) c.137A>C (p.Gln46Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610529A>G | CA6143234 | NDUFV1 | c.659A>G (p.Gln220Arg) c.638A>G (p.Gln213Arg) n.401A>G n.518A>G c.632A>G (p.Gln211Arg) c.356A>G (p.Gln119Arg) c.137A>G (p.Gln46Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67610529A>T | CA381537242 | NDUFV1 | c.659A>T (p.Gln220Leu) c.638A>T (p.Gln213Leu) n.401A>T n.518A>T c.632A>T (p.Gln211Leu) c.356A>T (p.Gln119Leu) c.137A>T (p.Gln46Leu) | |
11 | g.67610530G>A | CA475412833 | NDUFV1 | c.660G>A (p.Gln220=) c.639G>A (p.Gln213=) n.402G>A n.519G>A c.633G>A (p.Gln211=) c.357G>A (p.Gln119=) c.138G>A (p.Gln46=) | |
11 | g.67610530G>C | CA381537247 | NDUFV1 | c.660G>C (p.Gln220His) c.639G>C (p.Gln213His) n.402G>C n.519G>C c.633G>C (p.Gln211His) c.357G>C (p.Gln119His) c.138G>C (p.Gln46His) | |
11 | g.67610530G>T | CA381537249 | NDUFV1 | c.660G>T (p.Gln220His) c.639G>T (p.Gln213His) n.402G>T n.519G>T c.633G>T (p.Gln211His) c.357G>T (p.Gln119His) c.138G>T (p.Gln46His) | |
11 | g.67610531G>A | CA381537255 | NDUFV1 | c.661G>A (p.Gly221Ser) c.640G>A (p.Gly214Ser) n.403G>A n.520G>A c.634G>A (p.Gly212Ser) c.358G>A (p.Gly120Ser) c.139G>A (p.Gly47Ser) | |
11 | g.67610531G>C | CA381537257 | NDUFV1 | c.661G>C (p.Gly221Arg) c.640G>C (p.Gly214Arg) n.403G>C n.520G>C c.634G>C (p.Gly212Arg) c.358G>C (p.Gly120Arg) c.139G>C (p.Gly47Arg) | |
11 | g.67610531G>T | CA381537252 | NDUFV1 | c.661G>T (p.Gly221Cys) c.640G>T (p.Gly214Cys) n.403G>T n.520G>T c.634G>T (p.Gly212Cys) c.358G>T (p.Gly120Cys) c.139G>T (p.Gly47Cys) | |
11 | g.67610532G>A | CA381537259 | NDUFV1 | c.662G>A (p.Gly221Asp) c.641G>A (p.Gly214Asp) n.404G>A n.521G>A c.635G>A (p.Gly212Asp) c.359G>A (p.Gly120Asp) c.140G>A (p.Gly47Asp) | ClinVar |
11 | g.67610532G>C | CA381537262 | NDUFV1 | c.662G>C (p.Gly221Ala) c.641G>C (p.Gly214Ala) n.404G>C n.521G>C c.635G>C (p.Gly212Ala) c.359G>C (p.Gly120Ala) c.140G>C (p.Gly47Ala) | |
11 | g.67610532G>T | CA381537261 | NDUFV1 | c.662G>T (p.Gly221Val) c.641G>T (p.Gly214Val) n.404G>T n.521G>T c.635G>T (p.Gly212Val) c.359G>T (p.Gly120Val) c.140G>T (p.Gly47Val) | |
11 | g.67610533C>A | CA475412834 | NDUFV1 | c.663C>A (p.Gly221=) c.642C>A (p.Gly214=) n.405C>A n.522C>A c.636C>A (p.Gly212=) c.360C>A (p.Gly120=) c.141C>A (p.Gly47=) | |
11 | g.67610533C>G | CA475412835 | NDUFV1 | c.663C>G (p.Gly221=) c.642C>G (p.Gly214=) n.405C>G n.522C>G c.636C>G (p.Gly212=) c.360C>G (p.Gly120=) c.141C>G (p.Gly47=) | |
11 | g.67610533C>T | CA475412836 | NDUFV1 | c.663C>T (p.Gly221=) c.642C>T (p.Gly214=) n.405C>T n.522C>T c.636C>T (p.Gly212=) c.360C>T (p.Gly120=) c.141C>T (p.Gly47=) | gnomAD v4 |
11 | g.67610533_67610534insTGGCGCTGGGTG | CA2614647529 | NDUFV1 | c.663_664insTGGCGCTGGGTG (p.Gly221_Lys222insTrpArgTrpVal) c.642_643insTGGCGCTGGGTG (p.Gly214_Lys215insTrpArgTrpVal) n.405_406insTGGCGCTGGGTG n.522_523insTGGCGCTGGGTG c.636_637insTGGCGCTGGGTG (p.Gly212_Lys213insTrpArgTrpVal) c.360_361insTGGCGCTGGGTG (p.Gly120_Lys121insTrpArgTrpVal) c.141_142insTGGCGCTGGGTG (p.Gly47_Lys48insTrpArgTrpVal) | gnomAD v4 |
11 | g.67610534A= | CA1980190094 | NDUFV1 | c.664A= (p.Lys222=) c.643A= (p.Lys215=) n.406A= n.523A= c.637A= (p.Lys213=) c.361A= (p.Lys121=) c.142A= (p.Lys48=) | |
11 | g.67610534A>C | CA381537265 | NDUFV1 | c.664A>C (p.Lys222Gln) c.643A>C (p.Lys215Gln) n.406A>C n.523A>C c.637A>C (p.Lys213Gln) c.361A>C (p.Lys121Gln) c.142A>C (p.Lys48Gln) | dbSNP |
11 | g.67610534A>G | CA6143235 | NDUFV1 | c.664A>G (p.Lys222Glu) c.643A>G (p.Lys215Glu) n.406A>G n.523A>G c.637A>G (p.Lys213Glu) c.361A>G (p.Lys121Glu) c.142A>G (p.Lys48Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67610534A>T | CA381537269 | NDUFV1 | c.664A>T (p.Lys222Ter) c.643A>T (p.Lys215Ter) n.406A>T n.523A>T c.637A>T (p.Lys213Ter) c.361A>T (p.Lys121Ter) c.142A>T (p.Lys48Ter) | |
11 | g.67610535A>C | CA381537276 | NDUFV1 | c.665A>C (p.Lys222Thr) c.644A>C (p.Lys215Thr) n.407A>C n.524A>C c.638A>C (p.Lys213Thr) c.362A>C (p.Lys121Thr) c.143A>C (p.Lys48Thr) | |
11 | g.67610535A>G | CA381537281 | NDUFV1 | c.665A>G (p.Lys222Arg) c.644A>G (p.Lys215Arg) n.407A>G n.524A>G c.638A>G (p.Lys213Arg) c.362A>G (p.Lys121Arg) c.143A>G (p.Lys48Arg) | |
11 | g.67610535A>T | CA381537277 | NDUFV1 | c.665A>T (p.Lys222Met) c.644A>T (p.Lys215Met) n.407A>T n.524A>T c.638A>T (p.Lys213Met) c.362A>T (p.Lys121Met) c.143A>T (p.Lys48Met) | |
11 | g.67610536G>A | CA475412837 | NDUFV1 | c.666G>A (p.Lys222=) c.645G>A (p.Lys215=) n.408G>A n.525G>A c.639G>A (p.Lys213=) c.363G>A (p.Lys121=) c.144G>A (p.Lys48=) | ClinVar gnomAD v4 |
11 | g.67610536G>C | CA381537283 | NDUFV1 | c.666G>C (p.Lys222Asn) c.645G>C (p.Lys215Asn) n.408G>C n.525G>C c.639G>C (p.Lys213Asn) c.363G>C (p.Lys121Asn) c.144G>C (p.Lys48Asn) | |
11 | g.67610536G>T | CA381537284 | NDUFV1 | c.666G>T (p.Lys222Asn) c.645G>T (p.Lys215Asn) n.408G>T n.525G>T c.639G>T (p.Lys213Asn) c.363G>T (p.Lys121Asn) c.144G>T (p.Lys48Asn) | gnomAD v4 |
11 | g.67610536_67610537insTGGCCTGTCCATG | CA2614647531 | NDUFV1 | c.666_667insTGGCCTGTCCATG (p.Pro223TrpfsTer?) c.645_646insTGGCCTGTCCATG (p.Pro216TrpfsTer?) n.408_409insTGGCCTGTCCATG n.525_526insTGGCCTGTCCATG c.639_640insTGGCCTGTCCATG (p.Pro214TrpfsTer?) c.363_364insTGGCCTGTCCATG (p.Pro122TrpfsTer17) c.363_364insTGGCCTGTCCATG (p.Pro122TrpfsTer?) c.144_145insTGGCCTGTCCATG (p.Pro49TrpfsTer?) | gnomAD v4 |
11 | g.67610537C>A | CA381537286 | NDUFV1 | c.667C>A (p.Pro223Thr) c.646C>A (p.Pro216Thr) n.409C>A n.526C>A c.640C>A (p.Pro214Thr) c.364C>A (p.Pro122Thr) c.145C>A (p.Pro49Thr) | gnomAD v4 |
11 | g.67610537C>G | CA381537293 | NDUFV1 | c.667C>G (p.Pro223Ala) c.646C>G (p.Pro216Ala) n.409C>G n.526C>G c.640C>G (p.Pro214Ala) c.364C>G (p.Pro122Ala) c.145C>G (p.Pro49Ala) | |
11 | g.67610537C>T | CA381537296 | NDUFV1 | c.667C>T (p.Pro223Ser) c.646C>T (p.Pro216Ser) n.409C>T n.526C>T c.640C>T (p.Pro214Ser) c.364C>T (p.Pro122Ser) c.145C>T (p.Pro49Ser) | gnomAD v4 |
11 | g.67610538C>A | CA381537300 | NDUFV1 | c.668C>A (p.Pro223His) c.647C>A (p.Pro216His) n.410C>A n.527C>A c.641C>A (p.Pro214His) c.365C>A (p.Pro122His) c.146C>A (p.Pro49His) | |
11 | g.67610538C>G | CA381537307 | NDUFV1 | c.668C>G (p.Pro223Arg) c.647C>G (p.Pro216Arg) n.410C>G n.527C>G c.641C>G (p.Pro214Arg) c.365C>G (p.Pro122Arg) c.146C>G (p.Pro49Arg) | |
11 | g.67610538C>T | CA381537309 | NDUFV1 | c.668C>T (p.Pro223Leu) c.647C>T (p.Pro216Leu) n.410C>T n.527C>T c.641C>T (p.Pro214Leu) c.365C>T (p.Pro122Leu) c.146C>T (p.Pro49Leu) |