Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.80168852_80168951del | CA2695206776 | BCKDHB | c.478-23_554del c.268-23_344del n.562-23_638del n.508-23_584del n.501-23_577del | |
6 | g.80168903_80168908del | CA2679498025 | BCKDHB | c.506_511del (p.Tyr169_Arg170del) c.296_301del (p.Tyr99_Arg100del) n.590_595del n.536_541del n.529_534del | gnomAD v4 |
6 | g.80168901C>A | CA3902642 | BCKDHB | c.504C>A (p.Arg168=) c.294C>A (p.Arg98=) n.588C>A n.534C>A n.527C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80168901C= | CA1640937751 | BCKDHB | c.504C= (p.Arg168=) c.294C= (p.Arg98=) n.588C= n.534C= n.527C= | |
6 | g.80168901C>G | CA451072795 | BCKDHB | c.504C>G (p.Arg168=) c.294C>G (p.Arg98=) n.588C>G n.534C>G n.527C>G | |
6 | g.80168901C>T | CA451072796 | BCKDHB | c.504C>T (p.Arg168=) c.294C>T (p.Arg98=) n.588C>T n.534C>T n.527C>T | ClinVar dbSNP gnomAD v4 |
6 | g.80168902T>A | CA364657745 | BCKDHB | c.505T>A (p.Tyr169Asn) c.295T>A (p.Tyr99Asn) n.589T>A n.535T>A n.528T>A | |
6 | g.80168902T>C | CA364657746 | BCKDHB | c.505T>C (p.Tyr169His) c.295T>C (p.Tyr99His) n.589T>C n.535T>C n.528T>C | |
6 | g.80168902T>G | CA364657747 | BCKDHB | c.505T>G (p.Tyr169Asp) c.295T>G (p.Tyr99Asp) n.589T>G n.535T>G n.528T>G | |
6 | g.80168903A= | CA1640937752 | BCKDHB | c.506A= (p.Tyr169=) c.296A= (p.Tyr99=) n.590A= n.536A= n.529A= | |
6 | g.80168903A>C | CA364657748 | BCKDHB | c.506A>C (p.Tyr169Ser) c.296A>C (p.Tyr99Ser) n.590A>C n.536A>C n.529A>C | |
6 | g.80168903A>G | CA224292 | BCKDHB | c.506A>G (p.Tyr169Cys) c.296A>G (p.Tyr99Cys) n.590A>G n.536A>G n.529A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168903A>T | CA364657749 | BCKDHB | c.506A>T (p.Tyr169Phe) c.296A>T (p.Tyr99Phe) n.590A>T n.536A>T n.529A>T | gnomAD v4 |
6 | g.80168904T>A | CA364657751 | BCKDHB | c.507T>A (p.Tyr169Ter) c.297T>A (p.Tyr99Ter) n.591T>A n.537T>A n.530T>A | |
6 | g.80168904T>C | CA451072797 | BCKDHB | c.507T>C (p.Tyr169=) c.297T>C (p.Tyr99=) n.591T>C n.537T>C n.530T>C | ClinVar dbSNP gnomAD v4 |
6 | g.80168904T>G | CA364657750 | BCKDHB | c.507T>G (p.Tyr169Ter) c.297T>G (p.Tyr99Ter) n.591T>G n.537T>G n.530T>G | |
6 | g.80168905_80168910del | CA2739273285 | BCKDHB | c.508_513del (p.Arg170_Ser171del) c.298_303del (p.Arg100_Ser101del) n.592_597del n.538_543del n.531_536del | ClinVar |
6 | g.80168905C>A | CA224295 | BCKDHB | c.508C>A (p.Arg170Ser) c.298C>A (p.Arg100Ser) n.592C>A n.538C>A n.531C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80168905C= | CA1640937753 | BCKDHB | c.508C= (p.Arg170=) c.298C= (p.Arg100=) n.592C= n.538C= n.531C= | |
6 | g.80168905C>G | CA224298 | BCKDHB | c.508C>G (p.Arg170Gly) c.298C>G (p.Arg100Gly) n.592C>G n.538C>G n.531C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168905C>T | CA224301 | BCKDHB | c.508C>T (p.Arg170Cys) c.298C>T (p.Arg100Cys) n.592C>T n.538C>T n.531C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.80168906G>A | CA224304 | BCKDHB | c.509G>A (p.Arg170His) c.299G>A (p.Arg100His) n.593G>A n.539G>A n.532G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168906G>C | CA224306 | BCKDHB | c.509G>C (p.Arg170Pro) c.299G>C (p.Arg100Pro) n.593G>C n.539G>C n.532G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168906G= | CA1640937755 | BCKDHB | c.509G= (p.Arg170=) c.299G= (p.Arg100=) n.593G= n.539G= n.532G= | |
6 | g.80168906G>T | CA364657752 | BCKDHB | c.509G>T (p.Arg170Leu) c.299G>T (p.Arg100Leu) n.593G>T n.539G>T n.532G>T | gnomAD v4 |
6 | g.80168906_80168907delinsGC | CA1640937754 | BCKDHB | c.509_510delinsGC (p.Arg170=) c.299_300delinsGC (p.Arg100=) n.593_594delinsGC n.539_540delinsGC n.532_533delinsGC | |
6 | g.80168907del | CA3902643 | BCKDHB | c.510del (p.Ser171LeufsTer?) c.300del (p.Ser101LeufsTer?) n.594del n.540del n.533del | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80168907C>A | CA451072798 | BCKDHB | c.510C>A (p.Arg170=) c.300C>A (p.Arg100=) n.594C>A n.540C>A n.533C>A | |
6 | g.80168907C= | CA1640937756 | BCKDHB | c.510C= (p.Arg170=) c.300C= (p.Arg100=) n.594C= n.540C= n.533C= | |
6 | g.80168907C>G | CA451072799 | BCKDHB | c.510C>G (p.Arg170=) c.300C>G (p.Arg100=) n.594C>G n.540C>G n.533C>G | |
6 | g.80168907C>T | CA451072800 | BCKDHB | c.510C>T (p.Arg170=) c.300C>T (p.Arg100=) n.594C>T n.540C>T n.533C>T | ClinVar dbSNP |
6 | g.80168908T>A | CA364657753 | BCKDHB | c.511T>A (p.Ser171Thr) c.301T>A (p.Ser101Thr) n.595T>A n.541T>A n.534T>A | |
6 | g.80168908T>C | CA364657754 | BCKDHB | c.511T>C (p.Ser171Pro) c.301T>C (p.Ser101Pro) n.595T>C n.541T>C n.534T>C | gnomAD v4 |
6 | g.80168908T>G | CA364657755 | BCKDHB | c.511T>G (p.Ser171Ala) c.301T>G (p.Ser101Ala) n.595T>G n.541T>G n.534T>G | |
6 | g.80168909C>A | CA364657756 | BCKDHB | c.512C>A (p.Ser171Tyr) c.302C>A (p.Ser101Tyr) n.596C>A n.542C>A n.535C>A | |
6 | g.80168909C>G | CA364657757 | BCKDHB | c.512C>G (p.Ser171Cys) c.302C>G (p.Ser101Cys) n.596C>G n.542C>G n.535C>G | gnomAD v4 |
6 | g.80168909C>T | CA364657758 | BCKDHB | c.512C>T (p.Ser171Phe) c.302C>T (p.Ser101Phe) n.596C>T n.542C>T n.535C>T | |
6 | g.80168910T>A | CA451072801 | BCKDHB | c.513T>A (p.Ser171=) c.303T>A (p.Ser101=) n.597T>A n.543T>A n.536T>A | |
6 | g.80168910T>C | CA451072802 | BCKDHB | c.513T>C (p.Ser171=) c.303T>C (p.Ser101=) n.597T>C n.543T>C n.536T>C | gnomAD v3 gnomAD v4 |
6 | g.80168910T>G | CA451072803 | BCKDHB | c.513T>G (p.Ser171=) c.303T>G (p.Ser101=) n.597T>G n.543T>G n.536T>G | |
6 | g.80168911G>A | CA364657760 | BCKDHB | c.514G>A (p.Gly172Arg) c.304G>A (p.Gly102Arg) n.598G>A n.544G>A n.537G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168911G>C | CA364657761 | BCKDHB | c.514G>C (p.Gly172Arg) c.304G>C (p.Gly102Arg) n.598G>C n.544G>C n.537G>C | |
6 | g.80168911G= | CA1640937757 | BCKDHB | c.514G= (p.Gly172=) c.304G= (p.Gly102=) n.598G= n.544G= n.537G= | |
6 | g.80168911G>T | CA364657759 | BCKDHB | c.514G>T (p.Gly172Trp) c.304G>T (p.Gly102Trp) n.598G>T n.544G>T n.537G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168914del | CA2578677756 | BCKDHB | c.517del (p.Asp173IlefsTer?) c.307del (p.Asp103IlefsTer?) n.601del n.547del n.540del | |
6 | g.80168912G>A | CA364657762 | BCKDHB | c.515G>A (p.Gly172Glu) c.305G>A (p.Gly102Glu) n.599G>A n.545G>A n.538G>A | gnomAD v4 |
6 | g.80168912G>C | CA364657763 | BCKDHB | c.515G>C (p.Gly172Ala) c.305G>C (p.Gly102Ala) n.599G>C n.545G>C n.538G>C | |
6 | g.80168912G>T | CA364657764 | BCKDHB | c.515G>T (p.Gly172Val) c.305G>T (p.Gly102Val) n.599G>T n.545G>T n.538G>T | |
6 | g.80168913G>A | CA451072804 | BCKDHB | c.516G>A (p.Gly172=) c.306G>A (p.Gly102=) n.600G>A n.546G>A n.539G>A | ClinVar dbSNP gnomAD v4 |
6 | g.80168913G>C | CA451072805 | BCKDHB | c.516G>C (p.Gly172=) c.306G>C (p.Gly102=) n.600G>C n.546G>C n.539G>C | |
6 | g.80168913G>T | CA451072806 | BCKDHB | c.516G>T (p.Gly172=) c.306G>T (p.Gly102=) n.600G>T n.546G>T n.539G>T | |
6 | g.80168914G>A | CA364657765 | BCKDHB | c.517G>A (p.Asp173Asn) c.307G>A (p.Asp103Asn) n.601G>A n.547G>A n.540G>A | |
6 | g.80168914G>C | CA364657766 | BCKDHB | c.517G>C (p.Asp173His) c.307G>C (p.Asp103His) n.601G>C n.547G>C n.540G>C | |
6 | g.80168914G= | CA1640937758 | BCKDHB | c.517G= (p.Asp173=) c.307G= (p.Asp103=) n.601G= n.547G= n.540G= | |
6 | g.80168914G>T | CA364657767 | BCKDHB | c.517G>T (p.Asp173Tyr) c.307G>T (p.Asp103Tyr) n.601G>T n.547G>T n.540G>T | ClinVar dbSNP |
6 | g.80168915A>C | CA364657770 | BCKDHB | c.518A>C (p.Asp173Ala) c.308A>C (p.Asp103Ala) n.602A>C n.548A>C n.541A>C | |
6 | g.80168915A>G | CA364657768 | BCKDHB | c.518A>G (p.Asp173Gly) c.308A>G (p.Asp103Gly) n.602A>G n.548A>G n.541A>G | |
6 | g.80168915A>T | CA364657769 | BCKDHB | c.518A>T (p.Asp173Val) c.308A>T (p.Asp103Val) n.602A>T n.548A>T n.541A>T | |
6 | g.80168916T>A | CA364657771 | BCKDHB | c.519T>A (p.Asp173Glu) c.309T>A (p.Asp103Glu) n.603T>A n.549T>A n.542T>A | |
6 | g.80168916T>C | CA451072808 | BCKDHB | c.519T>C (p.Asp173=) c.309T>C (p.Asp103=) n.603T>C n.549T>C n.542T>C | dbSNP gnomAD v2 |
6 | g.80168916T>G | CA364657772 | BCKDHB | c.519T>G (p.Asp173Glu) c.309T>G (p.Asp103Glu) n.603T>G n.549T>G n.542T>G | |
6 | g.80168916T= | CA1640937759 | BCKDHB | c.519T= (p.Asp173=) c.309T= (p.Asp103=) n.603T= n.549T= n.542T= | |
6 | g.80168917C>A | CA364657773 | BCKDHB | c.520C>A (p.Leu174Ile) c.310C>A (p.Leu104Ile) n.604C>A n.550C>A n.543C>A | |
6 | g.80168917C= | CA1640937760 | BCKDHB | c.520C= (p.Leu174=) c.310C= (p.Leu104=) n.604C= n.550C= n.543C= | |
6 | g.80168917C>G | CA3902644 | BCKDHB | c.520C>G (p.Leu174Val) c.310C>G (p.Leu104Val) n.604C>G n.550C>G n.543C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168917C>T | CA364657774 | BCKDHB | c.520C>T (p.Leu174Phe) c.310C>T (p.Leu104Phe) n.604C>T n.550C>T n.543C>T | |
6 | g.80168918T>A | CA364657775 | BCKDHB | c.521T>A (p.Leu174His) c.311T>A (p.Leu104His) n.605T>A n.551T>A n.544T>A | |
6 | g.80168918T>C | CA364657777 | BCKDHB | c.521T>C (p.Leu174Pro) c.311T>C (p.Leu104Pro) n.605T>C n.551T>C n.544T>C | |
6 | g.80168918T>G | CA364657776 | BCKDHB | c.521T>G (p.Leu174Arg) c.311T>G (p.Leu104Arg) n.605T>G n.551T>G n.544T>G | |
6 | g.80168922dup | CA2573141188 | BCKDHB | c.525dup (p.Asn176Ter) c.315dup (p.Asn106Ter) n.609dup n.555dup n.548dup | ClinVar dbSNP |
6 | g.80168922del | CA2739273286 | BCKDHB | c.525del (p.Phe175LeufsTer?) c.315del (p.Phe105LeufsTer?) n.609del n.555del n.548del | ClinVar |
6 | g.80168919T>A | CA451072811 | BCKDHB | c.522T>A (p.Leu174=) c.312T>A (p.Leu104=) n.606T>A n.552T>A n.545T>A | |
6 | g.80168919T>C | CA451072810 | BCKDHB | c.522T>C (p.Leu174=) c.312T>C (p.Leu104=) n.606T>C n.552T>C n.545T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.80168919T>G | CA451072809 | BCKDHB | c.522T>G (p.Leu174=) c.312T>G (p.Leu104=) n.606T>G n.552T>G n.545T>G | |
6 | g.80168919T= | CA1640937761 | BCKDHB | c.522T= (p.Leu174=) c.312T= (p.Leu104=) n.606T= n.552T= n.545T= | |
6 | g.80168920T>A | CA364657778 | BCKDHB | c.523T>A (p.Phe175Ile) c.313T>A (p.Phe105Ile) n.607T>A n.553T>A n.546T>A | gnomAD v4 |
6 | g.80168920T>C | CA364657780 | BCKDHB | c.523T>C (p.Phe175Leu) c.313T>C (p.Phe105Leu) n.607T>C n.553T>C n.546T>C | |
6 | g.80168920T>G | CA364657779 | BCKDHB | c.523T>G (p.Phe175Val) c.313T>G (p.Phe105Val) n.607T>G n.553T>G n.546T>G | |
6 | g.80168921T>A | CA364657781 | BCKDHB | c.524T>A (p.Phe175Tyr) c.314T>A (p.Phe105Tyr) n.608T>A n.554T>A n.547T>A | gnomAD v4 |
6 | g.80168921T>C | CA364657783 | BCKDHB | c.524T>C (p.Phe175Ser) c.314T>C (p.Phe105Ser) n.608T>C n.554T>C n.547T>C | |
6 | g.80168921T>G | CA364657782 | BCKDHB | c.524T>G (p.Phe175Cys) c.314T>G (p.Phe105Cys) n.608T>G n.554T>G n.547T>G | |
6 | g.80168922T>A | CA364657784 | BCKDHB | c.525T>A (p.Phe175Leu) c.315T>A (p.Phe105Leu) n.609T>A n.555T>A n.548T>A | |
6 | g.80168922T>C | CA451072812 | BCKDHB | c.525T>C (p.Phe175=) c.315T>C (p.Phe105=) n.609T>C n.555T>C n.548T>C | ClinVar dbSNP gnomAD v4 |
6 | g.80168922T>G | CA364657785 | BCKDHB | c.525T>G (p.Phe175Leu) c.315T>G (p.Phe105Leu) n.609T>G n.555T>G n.548T>G | |
6 | g.80168923A= | CA1640937762 | BCKDHB | c.526A= (p.Asn176=) c.316A= (p.Asn106=) n.610A= n.556A= n.549A= | |
6 | g.80168923A>C | CA364657786 | BCKDHB | c.526A>C (p.Asn176His) c.316A>C (p.Asn106His) n.610A>C n.556A>C n.549A>C | |
6 | g.80168923A>G | CA364657787 | BCKDHB | c.526A>G (p.Asn176Asp) c.316A>G (p.Asn106Asp) n.610A>G n.556A>G n.549A>G | |
6 | g.80168923A>T | CA224309 | BCKDHB | c.526A>T (p.Asn176Tyr) c.316A>T (p.Asn106Tyr) n.610A>T n.556A>T n.549A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168924A>C | CA364657788 | BCKDHB | c.527A>C (p.Asn176Thr) c.317A>C (p.Asn106Thr) n.611A>C n.557A>C n.550A>C | |
6 | g.80168924A>G | CA364657789 | BCKDHB | c.527A>G (p.Asn176Ser) c.317A>G (p.Asn106Ser) n.611A>G n.557A>G n.550A>G | |
6 | g.80168924A>T | CA364657790 | BCKDHB | c.527A>T (p.Asn176Ile) c.317A>T (p.Asn106Ile) n.611A>T n.557A>T n.550A>T | |
6 | g.80168925C>A | CA364657791 | BCKDHB | c.528C>A (p.Asn176Lys) c.318C>A (p.Asn106Lys) n.612C>A n.558C>A n.551C>A | |
6 | g.80168925C= | CA1640937763 | BCKDHB | c.528C= (p.Asn176=) c.318C= (p.Asn106=) n.612C= n.558C= n.551C= | |
6 | g.80168925C>G | CA3902645 | BCKDHB | c.528C>G (p.Asn176Lys) c.318C>G (p.Asn106Lys) n.612C>G n.558C>G n.551C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168925C>T | CA451072813 | BCKDHB | c.528C>T (p.Asn176=) c.318C>T (p.Asn106=) n.612C>T n.558C>T n.551C>T | gnomAD v4 |
6 | g.80168926T>A | CA364657792 | BCKDHB | c.529T>A (p.Cys177Ser) c.319T>A (p.Cys107Ser) n.613T>A n.559T>A n.552T>A | gnomAD v4 |
6 | g.80168926T>C | CA224312 | BCKDHB | c.529T>C (p.Cys177Arg) c.319T>C (p.Cys107Arg) n.613T>C n.559T>C n.552T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.80168926T>G | CA364657793 | BCKDHB | c.529T>G (p.Cys177Gly) c.319T>G (p.Cys107Gly) n.613T>G n.559T>G n.552T>G | |
6 | g.80168926T= | CA1640937764 | BCKDHB | c.529T= (p.Cys177=) c.319T= (p.Cys107=) n.613T= n.559T= n.552T= | |
6 | g.80168927G>A | CA364657796 | BCKDHB | c.530G>A (p.Cys177Tyr) c.320G>A (p.Cys107Tyr) n.614G>A n.560G>A n.553G>A | dbSNP |
6 | g.80168927G>C | CA364657795 | BCKDHB | c.530G>C (p.Cys177Ser) c.320G>C (p.Cys107Ser) n.614G>C n.560G>C n.553G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168927G= | CA1640937765 | BCKDHB | c.530G= (p.Cys177=) c.320G= (p.Cys107=) n.614G= n.560G= n.553G= | |
6 | g.80168927G>T | CA364657794 | BCKDHB | c.530G>T (p.Cys177Phe) c.320G>T (p.Cys107Phe) n.614G>T n.560G>T n.553G>T | |
6 | g.80168928T>A | CA364657797 | BCKDHB | c.531T>A (p.Cys177Ter) c.321T>A (p.Cys107Ter) n.615T>A n.561T>A n.554T>A | |
6 | g.80168928T>C | CA451072814 | BCKDHB | c.531T>C (p.Cys177=) c.321T>C (p.Cys107=) n.615T>C n.561T>C n.554T>C | |
6 | g.80168928T>G | CA364657798 | BCKDHB | c.531T>G (p.Cys177Trp) c.321T>G (p.Cys107Trp) n.615T>G n.561T>G n.554T>G | |
6 | g.80168929G>A | CA364657799 | BCKDHB | c.532G>A (p.Gly178Arg) c.322G>A (p.Gly108Arg) n.616G>A n.562G>A n.555G>A | |
6 | g.80168929G>C | CA364657800 | BCKDHB | c.532G>C (p.Gly178Arg) c.322G>C (p.Gly108Arg) n.616G>C n.562G>C n.555G>C | |
6 | g.80168929G>T | CA364657801 | BCKDHB | c.532G>T (p.Gly178Ter) c.322G>T (p.Gly108Ter) n.616G>T n.562G>T n.555G>T | ClinVar |
6 | g.80168930G>A | CA3902646 | BCKDHB | c.533G>A (p.Gly178Glu) c.323G>A (p.Gly108Glu) n.617G>A n.563G>A n.556G>A | dbSNP ExAC gnomAD v4 |
6 | g.80168930G>C | CA364657802 | BCKDHB | c.533G>C (p.Gly178Ala) c.323G>C (p.Gly108Ala) n.617G>C n.563G>C n.556G>C | gnomAD v4 |
6 | g.80168930G= | CA1640937766 | BCKDHB | c.533G= (p.Gly178=) c.323G= (p.Gly108=) n.617G= n.563G= n.556G= | |
6 | g.80168930G>T | CA364657803 | BCKDHB | c.533G>T (p.Gly178Val) c.323G>T (p.Gly108Val) n.617G>T n.563G>T n.556G>T | |
6 | g.80168931A= | CA1640937767 | BCKDHB | c.534A= (p.Gly178=) c.324A= (p.Gly108=) n.618A= n.564A= n.557A= | |
6 | g.80168931A>C | CA451072815 | BCKDHB | c.534A>C (p.Gly178=) c.324A>C (p.Gly108=) n.618A>C n.564A>C n.557A>C | |
6 | g.80168931A>G | CA451072817 | BCKDHB | c.534A>G (p.Gly178=) c.324A>G (p.Gly108=) n.618A>G n.564A>G n.557A>G | ClinVar dbSNP gnomAD v4 |
6 | g.80168931A>T | CA451072816 | BCKDHB | c.534A>T (p.Gly178=) c.324A>T (p.Gly108=) n.618A>T n.564A>T n.557A>T | |
6 | g.80168932A>C | CA364657804 | BCKDHB | c.535A>C (p.Ser179Arg) c.325A>C (p.Ser109Arg) n.619A>C n.565A>C n.558A>C | gnomAD v4 |
6 | g.80168932A>G | CA364657805 | BCKDHB | c.535A>G (p.Ser179Gly) c.325A>G (p.Ser109Gly) n.619A>G n.565A>G n.558A>G | |
6 | g.80168932A>T | CA364657806 | BCKDHB | c.535A>T (p.Ser179Cys) c.325A>T (p.Ser109Cys) n.619A>T n.565A>T n.558A>T | |
6 | g.80168933G>A | CA364657809 | BCKDHB | c.536G>A (p.Ser179Asn) c.326G>A (p.Ser109Asn) n.620G>A n.566G>A n.559G>A | |
6 | g.80168933G>C | CA364657808 | BCKDHB | c.536G>C (p.Ser179Thr) c.326G>C (p.Ser109Thr) n.620G>C n.566G>C n.559G>C | |
6 | g.80168933G>T | CA364657807 | BCKDHB | c.536G>T (p.Ser179Ile) c.326G>T (p.Ser109Ile) n.620G>T n.566G>T n.559G>T | COSMIC |
6 | g.80168934C>A | CA364657810 | BCKDHB | c.537C>A (p.Ser179Arg) c.327C>A (p.Ser109Arg) n.621C>A n.567C>A n.560C>A | gnomAD v4 |
6 | g.80168934C= | CA1640937768 | BCKDHB | c.537C= (p.Ser179=) c.327C= (p.Ser109=) n.621C= n.567C= n.560C= | |
6 | g.80168934C>G | CA364657811 | BCKDHB | c.537C>G (p.Ser179Arg) c.327C>G (p.Ser109Arg) n.621C>G n.567C>G n.560C>G | |
6 | g.80168934C>T | CA451072819 | BCKDHB | c.537C>T (p.Ser179=) c.327C>T (p.Ser109=) n.621C>T n.567C>T n.560C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168935C>A | CA364657812 | BCKDHB | c.538C>A (p.Leu180Ile) c.328C>A (p.Leu110Ile) n.622C>A n.568C>A n.561C>A | |
6 | g.80168935C= | CA1640937769 | BCKDHB | c.538C= (p.Leu180=) c.328C= (p.Leu110=) n.622C= n.568C= n.561C= | |
6 | g.80168935C>G | CA364657813 | BCKDHB | c.538C>G (p.Leu180Val) c.328C>G (p.Leu110Val) n.622C>G n.568C>G n.561C>G | |
6 | g.80168935C>T | CA364657814 | BCKDHB | c.538C>T (p.Leu180Phe) c.328C>T (p.Leu110Phe) n.622C>T n.568C>T n.561C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168936T>A | CA364657815 | BCKDHB | c.539T>A (p.Leu180His) c.329T>A (p.Leu110His) n.623T>A n.569T>A n.562T>A | |
6 | g.80168936T>C | CA364657816 | BCKDHB | c.539T>C (p.Leu180Pro) c.329T>C (p.Leu110Pro) n.623T>C n.569T>C n.562T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168936T>G | CA364657817 | BCKDHB | c.539T>G (p.Leu180Arg) c.329T>G (p.Leu110Arg) n.623T>G n.569T>G n.562T>G | |
6 | g.80168936T= | CA1640937770 | BCKDHB | c.539T= (p.Leu180=) c.329T= (p.Leu110=) n.623T= n.569T= n.562T= | |
6 | g.80168937C>A | CA451072820 | BCKDHB | c.540C>A (p.Leu180=) c.330C>A (p.Leu110=) n.624C>A n.570C>A n.563C>A | |
6 | g.80168937C>G | CA451072821 | BCKDHB | c.540C>G (p.Leu180=) c.330C>G (p.Leu110=) n.624C>G n.570C>G n.563C>G | |
6 | g.80168937C>T | CA451072822 | BCKDHB | c.540C>T (p.Leu180=) c.330C>T (p.Leu110=) n.624C>T n.570C>T n.563C>T | ClinVar |
6 | g.80168938A= | CA1640937771 | BCKDHB | c.541A= (p.Thr181=) c.331A= (p.Thr111=) n.625A= n.571A= n.564A= | |
6 | g.80168938A>C | CA364657818 | BCKDHB | c.541A>C (p.Thr181Pro) c.331A>C (p.Thr111Pro) n.625A>C n.571A>C n.564A>C | |
6 | g.80168938A>G | CA364657819 | BCKDHB | c.541A>G (p.Thr181Ala) c.331A>G (p.Thr111Ala) n.625A>G n.571A>G n.564A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168938A>T | CA364657820 | BCKDHB | c.541A>T (p.Thr181Ser) c.331A>T (p.Thr111Ser) n.625A>T n.571A>T n.564A>T | |
6 | g.80168939C>A | CA364657822 | BCKDHB | c.542C>A (p.Thr181Asn) c.332C>A (p.Thr111Asn) n.626C>A n.572C>A n.565C>A | |
6 | g.80168939C= | CA1640937772 | BCKDHB | c.542C= (p.Thr181=) c.332C= (p.Thr111=) n.626C= n.572C= n.565C= | |
6 | g.80168939C>G | CA3902647 | BCKDHB | c.542C>G (p.Thr181Ser) c.332C>G (p.Thr111Ser) n.626C>G n.572C>G n.565C>G | dbSNP ExAC gnomAD v2 |
6 | g.80168939C>T | CA364657821 | BCKDHB | c.542C>T (p.Thr181Ile) c.332C>T (p.Thr111Ile) n.626C>T n.572C>T n.565C>T | |
6 | g.80168940T>A | CA451072825 | BCKDHB | c.543T>A (p.Thr181=) c.333T>A (p.Thr111=) n.627T>A n.573T>A n.566T>A | |
6 | g.80168940T>C | CA451072823 | BCKDHB | c.543T>C (p.Thr181=) c.333T>C (p.Thr111=) n.627T>C n.573T>C n.566T>C | dbSNP |
6 | g.80168940T>G | CA451072824 | BCKDHB | c.543T>G (p.Thr181=) c.333T>G (p.Thr111=) n.627T>G n.573T>G n.566T>G | |
6 | g.80168940T= | CA1640937773 | BCKDHB | c.543T= (p.Thr181=) c.333T= (p.Thr111=) n.627T= n.573T= n.566T= | |
6 | g.80168941A= | CA1640937774 | BCKDHB | c.544A= (p.Ile182=) c.334A= (p.Ile112=) n.628A= n.574A= n.567A= | |
6 | g.80168941A>C | CA364657823 | BCKDHB | c.544A>C (p.Ile182Leu) c.334A>C (p.Ile112Leu) n.628A>C n.574A>C n.567A>C | dbSNP gnomAD v4 |
6 | g.80168941A>G | CA3902648 | BCKDHB | c.544A>G (p.Ile182Val) c.334A>G (p.Ile112Val) n.628A>G n.574A>G n.567A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80168941A>T | CA364657824 | BCKDHB | c.544A>T (p.Ile182Phe) c.334A>T (p.Ile112Phe) n.628A>T n.574A>T n.567A>T | |
6 | g.80168942T>A | CA364657825 | BCKDHB | c.545T>A (p.Ile182Asn) c.335T>A (p.Ile112Asn) n.629T>A n.575T>A n.568T>A | |
6 | g.80168942T>C | CA364657826 | BCKDHB | c.545T>C (p.Ile182Thr) c.335T>C (p.Ile112Thr) n.629T>C n.575T>C n.568T>C | gnomAD v4 |
6 | g.80168942T>G | CA364657827 | BCKDHB | c.545T>G (p.Ile182Ser) c.335T>G (p.Ile112Ser) n.629T>G n.575T>G n.568T>G | |
6 | g.80168943C>A | CA451072826 | BCKDHB | c.546C>A (p.Ile182=) c.336C>A (p.Ile112=) n.630C>A n.576C>A n.569C>A | |
6 | g.80168943C= | CA1640937775 | BCKDHB | c.546C= (p.Ile182=) c.336C= (p.Ile112=) n.630C= n.576C= n.569C= | |
6 | g.80168943C>G | CA364657828 | BCKDHB | c.546C>G (p.Ile182Met) c.336C>G (p.Ile112Met) n.630C>G n.576C>G n.569C>G | |
6 | g.80168943C>T | CA451072827 | BCKDHB | c.546C>T (p.Ile182=) c.336C>T (p.Ile112=) n.630C>T n.576C>T n.569C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.80168944C>A | CA451072828 | BCKDHB | c.547C>A (p.Arg183=) c.337C>A (p.Arg113=) n.631C>A n.577C>A n.570C>A | gnomAD v4 |
6 | g.80168944C= | CA1640937776 | BCKDHB | c.547C= (p.Arg183=) c.337C= (p.Arg113=) n.631C= n.577C= n.570C= | |
6 | g.80168944C>G | CA3902649 | BCKDHB | c.547C>G (p.Arg183Gly) c.337C>G (p.Arg113Gly) n.631C>G n.577C>G n.570C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168944C>T | CA224315 | BCKDHB | c.547C>T (p.Arg183Trp) c.337C>T (p.Arg113Trp) n.631C>T n.577C>T n.570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168945G>A | CA142284037 | BCKDHB | c.548G>A (p.Arg183Gln) c.338G>A (p.Arg113Gln) n.632G>A n.578G>A n.571G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.80168945G>C | CA121789 | BCKDHB | c.548G>C (p.Arg183Pro) c.338G>C (p.Arg113Pro) n.632G>C n.578G>C n.571G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168945G= | CA1640937777 | BCKDHB | c.548G= (p.Arg183=) c.338G= (p.Arg113=) n.632G= n.578G= n.571G= | |
6 | g.80168945G>T | CA364657829 | BCKDHB | c.548G>T (p.Arg183Leu) c.338G>T (p.Arg113Leu) n.632G>T n.578G>T n.571G>T | gnomAD v4 |
6 | g.80168946G>A | CA451072830 | BCKDHB | c.549G>A (p.Arg183=) c.339G>A (p.Arg113=) n.633G>A n.579G>A n.572G>A | |
6 | g.80168946G>C | CA451072831 | BCKDHB | c.549G>C (p.Arg183=) c.339G>C (p.Arg113=) n.633G>C n.579G>C n.572G>C | ClinVar gnomAD v4 |
6 | g.80168946G= | CA1640937779 | BCKDHB | c.549G= (p.Arg183=) c.339G= (p.Arg113=) n.633G= n.579G= n.572G= | |
6 | g.80168946G>T | CA451072832 | BCKDHB | c.549G>T (p.Arg183=) c.339G>T (p.Arg113=) n.633G>T n.579G>T n.572G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.80168946_80168947delinsGT | CA1640937778 | BCKDHB | c.549_550delinsGT (p.Arg183=) c.339_340delinsGT (p.Arg113=) n.633_634delinsGT n.579_580delinsGT n.572_573delinsGT | |
6 | g.80168947del | CA658820648 | BCKDHB | c.550del (p.Ser184ProfsTer?) c.340del (p.Ser114ProfsTer?) n.634del n.580del n.573del | ClinVar dbSNP |
6 | g.80168947T>A | CA364657831 | BCKDHB | c.550T>A (p.Ser184Thr) c.340T>A (p.Ser114Thr) n.634T>A n.580T>A n.573T>A | |
6 | g.80168947T>C | CA364657832 | BCKDHB | c.550T>C (p.Ser184Pro) c.340T>C (p.Ser114Pro) n.634T>C n.580T>C n.573T>C | |
6 | g.80168947T>G | CA364657830 | BCKDHB | c.550T>G (p.Ser184Ala) c.340T>G (p.Ser114Ala) n.634T>G n.580T>G n.573T>G | |
6 | g.80168948C>A | CA364657834 | BCKDHB | c.551C>A (p.Ser184Tyr) c.341C>A (p.Ser114Tyr) n.635C>A n.581C>A n.574C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168948C= | CA1640937780 | BCKDHB | c.551C= (p.Ser184=) c.341C= (p.Ser114=) n.635C= n.581C= n.574C= | |
6 | g.80168948C>G | CA364657833 | BCKDHB | c.551C>G (p.Ser184Cys) c.341C>G (p.Ser114Cys) n.635C>G n.581C>G n.574C>G | |
6 | g.80168948C>T | CA3902650 | BCKDHB | c.551C>T (p.Ser184Phe) c.341C>T (p.Ser114Phe) n.635C>T n.581C>T n.574C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168949C>A | CA451072833 | BCKDHB | c.552C>A (p.Ser184=) c.342C>A (p.Ser114=) n.636C>A n.582C>A n.575C>A | |
6 | g.80168949C= | CA1640937781 | BCKDHB | c.552C= (p.Ser184=) c.342C= (p.Ser114=) n.636C= n.582C= n.575C= | |
6 | g.80168949C>G | CA451072834 | BCKDHB | c.552C>G (p.Ser184=) c.342C>G (p.Ser114=) n.636C>G n.582C>G n.575C>G | |
6 | g.80168949C>T | CA451072835 | BCKDHB | c.552C>T (p.Ser184=) c.342C>T (p.Ser114=) n.636C>T n.582C>T n.575C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168950C>A | CA364657835 | BCKDHB | c.553C>A (p.Pro185Thr) c.343C>A (p.Pro115Thr) n.637C>A n.583C>A n.576C>A | |
6 | g.80168950C= | CA1640937782 | BCKDHB | c.553C= (p.Pro185=) c.343C= (p.Pro115=) n.637C= n.583C= n.576C= | |
6 | g.80168950C>G | CA3902651 | BCKDHB | c.553C>G (p.Pro185Ala) c.343C>G (p.Pro115Ala) n.637C>G n.583C>G n.576C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80168950C>T | CA364657836 | BCKDHB | c.553C>T (p.Pro185Ser) c.343C>T (p.Pro115Ser) n.637C>T n.583C>T n.576C>T | |
6 | g.80168951C>A | CA364657837 | BCKDHB | c.554C>A (p.Pro185His) c.344C>A (p.Pro115His) n.638C>A n.584C>A n.577C>A | |
6 | g.80168951C= | CA1640937783 | BCKDHB | c.554C= (p.Pro185=) c.344C= (p.Pro115=) n.638C= n.584C= n.577C= | |
6 | g.80168951C>G | CA364657838 | BCKDHB | c.554C>G (p.Pro185Arg) c.344C>G (p.Pro115Arg) n.638C>G n.584C>G n.577C>G | |
6 | g.80168951C>T | CA354920 | BCKDHB | c.554C>T (p.Pro185Leu) c.344C>T (p.Pro115Leu) n.638C>T n.584C>T n.577C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168952T>A | CA451072836 | BCKDHB | c.555T>A (p.Pro185=) c.345T>A (p.Pro115=) n.639T>A n.585T>A n.578T>A | ClinVar dbSNP gnomAD v4 |
6 | g.80168952T>C | CA3902652 | BCKDHB | c.555T>C (p.Pro185=) c.345T>C (p.Pro115=) n.639T>C n.585T>C n.578T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80168952T>G | CA451072837 | BCKDHB | c.555T>G (p.Pro185=) c.345T>G (p.Pro115=) n.639T>G n.585T>G n.578T>G | |
6 | g.80168952T= | CA1640937784 | BCKDHB | c.555T= (p.Pro185=) c.345T= (p.Pro115=) n.639T= n.585T= n.578T= | |
6 | g.80168953T>A | CA364657839 | BCKDHB | c.556T>A (p.Trp186Arg) c.346T>A (p.Trp116Arg) n.640T>A n.586T>A n.579T>A | |
6 | g.80168953T>C | CA364657840 | BCKDHB | c.556T>C (p.Trp186Arg) c.346T>C (p.Trp116Arg) n.640T>C n.586T>C n.579T>C | dbSNP |
6 | g.80168953T>G | CA364657841 | BCKDHB | c.556T>G (p.Trp186Gly) c.346T>G (p.Trp116Gly) n.640T>G n.586T>G n.579T>G | |
6 | g.80168953T= | CA1640937785 | BCKDHB | c.556T= (p.Trp186=) c.346T= (p.Trp116=) n.640T= n.586T= n.579T= | |
6 | g.80168954G>A | CA364657846 | BCKDHB | c.557G>A (p.Trp186Ter) c.347G>A (p.Trp116Ter) n.641G>A n.587G>A n.580G>A | |
6 | g.80168954G>C | CA364657843 | BCKDHB | c.557G>C (p.Trp186Ser) c.347G>C (p.Trp116Ser) n.641G>C n.587G>C n.580G>C | |
6 | g.80168954G>T | CA364657844 | BCKDHB | c.557G>T (p.Trp186Leu) c.347G>T (p.Trp116Leu) n.641G>T n.587G>T n.580G>T | |
6 | g.80168956_80168957del | CA2580075912 | BCKDHB | c.559_560del (p.Gly187LeufsTer14) c.349_350del (p.Gly117LeufsTer14) n.643_644del n.589_590del n.582_583del | ClinVar |
6 | g.80168955G>A | CA364657848 | BCKDHB | c.558G>A (p.Trp186Ter) c.348G>A (p.Trp116Ter) n.642G>A n.588G>A n.581G>A | |
6 | g.80168955G>C | CA364657850 | BCKDHB | c.558G>C (p.Trp186Cys) c.348G>C (p.Trp116Cys) n.642G>C n.588G>C n.581G>C | |
6 | g.80168955G>T | CA364657852 | BCKDHB | c.558G>T (p.Trp186Cys) c.348G>T (p.Trp116Cys) n.642G>T n.588G>T n.581G>T | |
6 | g.80168956G>A | CA364657854 | BCKDHB | c.559G>A (p.Gly187Ser) c.349G>A (p.Gly117Ser) n.643G>A n.589G>A n.582G>A | |
6 | g.80168956G>C | CA364657855 | BCKDHB | c.559G>C (p.Gly187Arg) c.349G>C (p.Gly117Arg) n.643G>C n.589G>C n.582G>C | |
6 | g.80168956G>T | CA364657858 | BCKDHB | c.559G>T (p.Gly187Cys) c.349G>T (p.Gly117Cys) n.643G>T n.589G>T n.582G>T | |
6 | g.80168957G>A | CA364657860 | BCKDHB | c.560G>A (p.Gly187Asp) c.350G>A (p.Gly117Asp) n.644G>A n.590G>A n.583G>A | ClinVar dbSNP |
6 | g.80168957G>C | CA364657862 | BCKDHB | c.560G>C (p.Gly187Ala) c.350G>C (p.Gly117Ala) n.644G>C n.590G>C n.583G>C | |
6 | g.80168957G= | CA1640937786 | BCKDHB | c.560G= (p.Gly187=) c.350G= (p.Gly117=) n.644G= n.590G= n.583G= | |
6 | g.80168957G>T | CA364657863 | BCKDHB | c.560G>T (p.Gly187Val) c.350G>T (p.Gly117Val) n.644G>T n.590G>T n.583G>T | gnomAD v4 |
6 | g.80168958C>A | CA451072839 | BCKDHB | c.561C>A (p.Gly187=) c.351C>A (p.Gly117=) n.645C>A n.591C>A n.584C>A | |
6 | g.80168958C>G | CA451072840 | BCKDHB | c.561C>G (p.Gly187=) c.351C>G (p.Gly117=) n.645C>G n.591C>G n.584C>G | |
6 | g.80168958C>T | CA451072841 | BCKDHB | c.561C>T (p.Gly187=) c.351C>T (p.Gly117=) n.645C>T n.591C>T n.584C>T | ClinVar gnomAD v4 |
6 | g.80168959T>A | CA364657866 | BCKDHB | c.562T>A (p.Cys188Ser) c.352T>A (p.Cys118Ser) n.646T>A n.592T>A n.585T>A | |
6 | g.80168959T>C | CA364657868 | BCKDHB | c.562T>C (p.Cys188Arg) c.352T>C (p.Cys118Arg) n.646T>C n.592T>C n.585T>C | gnomAD v4 |
6 | g.80168959T>G | CA364657870 | BCKDHB | c.562T>G (p.Cys188Gly) c.352T>G (p.Cys118Gly) n.646T>G n.592T>G n.585T>G | |
6 | g.80168960G>A | CA364657875 | BCKDHB | c.563G>A (p.Cys188Tyr) c.353G>A (p.Cys118Tyr) n.647G>A n.593G>A n.586G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168960G>C | CA3902653 | BCKDHB | c.563G>C (p.Cys188Ser) c.353G>C (p.Cys118Ser) n.647G>C n.593G>C n.586G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80168960G= | CA1640937787 | BCKDHB | c.563G= (p.Cys188=) c.353G= (p.Cys118=) n.647G= n.593G= n.586G= | |
6 | g.80168960G>T | CA364657873 | BCKDHB | c.563G>T (p.Cys188Phe) c.353G>T (p.Cys118Phe) n.647G>T n.593G>T n.586G>T | |
6 | g.80168961T>A | CA3902654 | BCKDHB | c.564T>A (p.Cys188Ter) c.354T>A (p.Cys118Ter) n.648T>A n.594T>A n.587T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168961T>C | CA451072842 | BCKDHB | c.564T>C (p.Cys188=) c.354T>C (p.Cys118=) n.648T>C n.594T>C n.587T>C | |
6 | g.80168961T>G | CA364657879 | BCKDHB | c.564T>G (p.Cys188Trp) c.354T>G (p.Cys118Trp) n.648T>G n.594T>G n.587T>G | |
6 | g.80168961T= | CA1640937788 | BCKDHB | c.564T= (p.Cys188=) c.354T= (p.Cys118=) n.648T= n.594T= n.587T= | |
6 | g.80168962G>A | CA364657881 | BCKDHB | c.565G>A (p.Val189Ile) c.355G>A (p.Val119Ile) n.649G>A n.595G>A n.588G>A | |
6 | g.80168962G>C | CA364657883 | BCKDHB | c.565G>C (p.Val189Leu) c.355G>C (p.Val119Leu) n.649G>C n.595G>C n.588G>C | gnomAD v4 |
6 | g.80168962G>T | CA364657885 | BCKDHB | c.565G>T (p.Val189Phe) c.355G>T (p.Val119Phe) n.649G>T n.595G>T n.588G>T | COSMIC |
6 | g.80168963T>A | CA364657887 | BCKDHB | c.566T>A (p.Val189Asp) c.356T>A (p.Val119Asp) n.650T>A n.596T>A n.589T>A | |
6 | g.80168963T>C | CA364657888 | BCKDHB | c.566T>C (p.Val189Ala) c.356T>C (p.Val119Ala) n.650T>C n.596T>C n.589T>C | |
6 | g.80168963T>G | CA364657889 | BCKDHB | c.566T>G (p.Val189Gly) c.356T>G (p.Val119Gly) n.650T>G n.596T>G n.589T>G | |
6 | g.80168964T>A | CA451072843 | BCKDHB | c.567T>A (p.Val189=) c.357T>A (p.Val119=) n.651T>A n.597T>A n.590T>A | |
6 | g.80168964T>C | CA451072844 | BCKDHB | c.567T>C (p.Val189=) c.357T>C (p.Val119=) n.651T>C n.597T>C n.590T>C | |
6 | g.80168964T>G | CA451072845 | BCKDHB | c.567T>G (p.Val189=) c.357T>G (p.Val119=) n.651T>G n.597T>G n.590T>G | |
6 | g.80168965G>A | CA364657890 | BCKDHB | c.568G>A (p.Gly190Ser) c.358G>A (p.Gly120Ser) n.652G>A n.598G>A n.591G>A | gnomAD v4 |
6 | g.80168965G>C | CA364657891 | BCKDHB | c.568G>C (p.Gly190Arg) c.358G>C (p.Gly120Arg) n.652G>C n.598G>C n.591G>C | gnomAD v4 |
6 | g.80168965G>T | CA364657893 | BCKDHB | c.568G>T (p.Gly190Cys) c.358G>T (p.Gly120Cys) n.652G>T n.598G>T n.591G>T | |
6 | g.80168966G>A | CA364657894 | BCKDHB | c.569G>A (p.Gly190Asp) c.359G>A (p.Gly120Asp) n.653G>A n.599G>A n.592G>A | gnomAD v4 |
6 | g.80168966G>C | CA364657895 | BCKDHB | c.569G>C (p.Gly190Ala) c.359G>C (p.Gly120Ala) n.653G>C n.599G>C n.592G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168966G= | CA1640937789 | BCKDHB | c.569G= (p.Gly190=) c.359G= (p.Gly120=) n.653G= n.599G= n.592G= | |
6 | g.80168966G>T | CA364657896 | BCKDHB | c.569G>T (p.Gly190Val) c.359G>T (p.Gly120Val) n.653G>T n.599G>T n.592G>T | |
6 | g.80168966_80168967insGTGTGT | CA2771864308 | BCKDHB | c.569_570insGTGTGT (p.Gly190_His191insCysVal) c.359_360insGTGTGT (p.Gly120_His121insCysVal) n.653_654insGTGTGT n.599_600insGTGTGT n.592_593insGTGTGT | |
6 | g.80168966_80168967insGTGTGTTTGGTTTTTTTT | CA2771864309 | BCKDHB | c.569_570insGTGTGTTTGGTTTTTTTT (p.Gly190_His191insCysValTrpPhePhePhe) c.359_360insGTGTGTTTGGTTTTTTTT (p.Gly120_His121insCysValTrpPhePhePhe) n.653_654insGTGTGTTTGGTTTTTTTT n.599_600insGTGTGTTTGGTTTTTTTT n.592_593insGTGTGTTTGGTTTTTTTT | |
6 | g.80168967T>A | CA3902655 | BCKDHB | c.570T>A (p.Gly190=) c.360T>A (p.Gly120=) n.654T>A n.600T>A n.593T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168967T>C | CA451072848 | BCKDHB | c.570T>C (p.Gly190=) c.360T>C (p.Gly120=) n.654T>C n.600T>C n.593T>C | |
6 | g.80168967T>G | CA451072847 | BCKDHB | c.570T>G (p.Gly190=) c.360T>G (p.Gly120=) n.654T>G n.600T>G n.593T>G | |
6 | g.80168967T= | CA1640937790 | BCKDHB | c.570T= (p.Gly190=) c.360T= (p.Gly120=) n.654T= n.600T= n.593T= | |
6 | g.80168967_80168970del | CA2771864307 | BCKDHB | c.570_573del (p.His191GlyfsTer?) c.570_573del (p.His191GlyfsTer24) c.360_363del (p.His121GlyfsTer?) n.654_657del n.600_603del n.593_596del | |
6 | g.80168968C>A | CA364657900 | BCKDHB | c.571C>A (p.His191Asn) c.361C>A (p.His121Asn) n.655C>A n.601C>A n.594C>A | |
6 | g.80168968C>G | CA364657902 | BCKDHB | c.571C>G (p.His191Asp) c.361C>G (p.His121Asp) n.655C>G n.601C>G n.594C>G | |
6 | g.80168968C>T | CA364657903 | BCKDHB | c.571C>T (p.His191Tyr) c.361C>T (p.His121Tyr) n.655C>T n.601C>T n.594C>T | |
6 | g.80168969A>C | CA364657905 | BCKDHB | c.572A>C (p.His191Pro) c.362A>C (p.His121Pro) n.656A>C n.602A>C n.595A>C | |
6 | g.80168969A>G | CA364657907 | BCKDHB | c.572A>G (p.His191Arg) c.362A>G (p.His121Arg) n.656A>G n.602A>G n.595A>G | |
6 | g.80168969A>T | CA364657909 | BCKDHB | c.572A>T (p.His191Leu) c.362A>T (p.His121Leu) n.656A>T n.602A>T n.595A>T | |
6 | g.80168970T>A | CA364657910 | BCKDHB | c.573T>A (p.His191Gln) c.363T>A (p.His121Gln) n.657T>A n.603T>A n.596T>A | |
6 | g.80168970T>C | CA451072849 | BCKDHB | c.573T>C (p.His191=) c.363T>C (p.His121=) n.657T>C n.603T>C n.596T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168970T>G | CA364657912 | BCKDHB | c.573T>G (p.His191Gln) c.363T>G (p.His121Gln) n.657T>G n.603T>G n.596T>G | |
6 | g.80168970T= | CA1640937791 | BCKDHB | c.573T= (p.His191=) c.363T= (p.His121=) n.657T= n.603T= n.596T= | |
6 | g.80168970dup | CA645546710 | BCKDHB | c.573dup (p.Gly192TrpfsTer10) c.363dup (p.Gly122TrpfsTer10) n.657dup n.603dup n.596dup | COSMIC COSMIC |
6 | g.80168971G>A | CA224318 | BCKDHB | c.574G>A (p.Gly192Arg) c.364G>A (p.Gly122Arg) n.658G>A n.604G>A n.597G>A | ClinVar dbSNP |
6 | g.80168971G>C | CA364657915 | BCKDHB | c.574G>C (p.Gly192Arg) c.364G>C (p.Gly122Arg) n.658G>C n.604G>C n.597G>C | |
6 | g.80168971G= | CA1640937792 | BCKDHB | c.574G= (p.Gly192=) c.364G= (p.Gly122=) n.658G= n.604G= n.597G= | |
6 | g.80168971G>T | CA364657917 | BCKDHB | c.574G>T (p.Gly192Trp) c.364G>T (p.Gly122Trp) n.658G>T n.604G>T n.597G>T | |
6 | g.80168971_80168972insT | CA451072851 | BCKDHB | c.574_575insT (p.Gly192ValfsTer10) c.364_365insT (p.Gly122ValfsTer10) n.658_659insT n.604_605insT n.597_598insT | |
6 | g.80168972G>A | CA364657919 | BCKDHB | c.575G>A (p.Gly192Glu) c.365G>A (p.Gly122Glu) n.659G>A n.605G>A n.598G>A | |
6 | g.80168972G>C | CA364657920 | BCKDHB | c.575G>C (p.Gly192Ala) c.365G>C (p.Gly122Ala) n.659G>C n.605G>C n.598G>C | |
6 | g.80168972G>T | CA364657922 | BCKDHB | c.575G>T (p.Gly192Val) c.365G>T (p.Gly122Val) n.659G>T n.605G>T n.598G>T | COSMIC |
6 | g.80168972_80168996del | CA2771864310 | BCKDHB | c.575_599del (p.Gly192ValfsTer30) c.575_599del (p.Gly192ValfsTer16) c.365_389del (p.Gly122ValfsTer30) n.659_683del n.605_629del n.598_622del | |
6 | g.80168973G>A | CA451072852 | BCKDHB | c.576G>A (p.Gly192=) c.366G>A (p.Gly122=) n.660G>A n.606G>A n.599G>A | ClinVar dbSNP |
6 | g.80168973G>C | CA451072853 | BCKDHB | c.576G>C (p.Gly192=) c.366G>C (p.Gly122=) n.660G>C n.606G>C n.599G>C | |
6 | g.80168973G>T | CA451072854 | BCKDHB | c.576G>T (p.Gly192=) c.366G>T (p.Gly122=) n.660G>T n.606G>T n.599G>T | gnomAD v4 |
6 | g.80168974G>A | CA364657928 | BCKDHB | c.577G>A (p.Ala193Thr) c.367G>A (p.Ala123Thr) n.661G>A n.607G>A n.600G>A | gnomAD v4 COSMIC |
6 | g.80168974G>C | CA364657926 | BCKDHB | c.577G>C (p.Ala193Pro) c.367G>C (p.Ala123Pro) n.661G>C n.607G>C n.600G>C | |
6 | g.80168974G= | CA1640937794 | BCKDHB | c.577G= (p.Ala193=) c.367G= (p.Ala123=) n.661G= n.607G= n.600G= | |
6 | g.80168974G>T | CA364657924 | BCKDHB | c.577G>T (p.Ala193Ser) c.367G>T (p.Ala123Ser) n.661G>T n.607G>T n.600G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168974_80168976delinsGCT | CA1640937793 | BCKDHB | c.577_579delinsGCT (p.Ala193=) c.367_369delinsGCT (p.Ala123=) n.661_663delinsGCT n.607_609delinsGCT n.600_602delinsGCT | |
6 | g.80168975C>A | CA364657931 | BCKDHB | c.578C>A (p.Ala193Asp) c.368C>A (p.Ala123Asp) n.662C>A n.608C>A n.601C>A | |
6 | g.80168975C>G | CA364657935 | BCKDHB | c.578C>G (p.Ala193Gly) c.368C>G (p.Ala123Gly) n.662C>G n.608C>G n.601C>G | |
6 | g.80168975C>T | CA364657933 | BCKDHB | c.578C>T (p.Ala193Val) c.368C>T (p.Ala123Val) n.662C>T n.608C>T n.601C>T | |
6 | g.80168979_80168980del | CA1640937795 | BCKDHB | c.582_583del (p.Tyr195SerfsTer6) c.372_373del (p.Tyr125SerfsTer6) n.666_667del n.612_613del n.605_606del | dbSNP |
6 | g.80168977_80168980del | CA2831038947 | BCKDHB | c.580_583del (p.Leu194IlefsTer?) c.580_583del (p.Leu194IlefsTer21) c.370_373del (p.Leu124IlefsTer?) n.664_667del n.610_613del n.603_606del | |
6 | g.80168976T>A | CA451072855 | BCKDHB | c.579T>A (p.Ala193=) c.369T>A (p.Ala123=) n.663T>A n.609T>A n.602T>A | |
6 | g.80168976T>C | CA451072856 | BCKDHB | c.579T>C (p.Ala193=) c.369T>C (p.Ala123=) n.663T>C n.609T>C n.602T>C | |
6 | g.80168976T>G | CA451072857 | BCKDHB | c.579T>G (p.Ala193=) c.369T>G (p.Ala123=) n.663T>G n.609T>G n.602T>G | |
6 | g.80168977C>A | CA364657937 | BCKDHB | c.580C>A (p.Leu194Ile) c.370C>A (p.Leu124Ile) n.664C>A n.610C>A n.603C>A | |
6 | g.80168977C>G | CA364657940 | BCKDHB | c.580C>G (p.Leu194Val) c.370C>G (p.Leu124Val) n.664C>G n.610C>G n.603C>G | gnomAD v4 |
6 | g.80168977C>T | CA364657941 | BCKDHB | c.580C>T (p.Leu194Phe) c.370C>T (p.Leu124Phe) n.664C>T n.610C>T n.603C>T | ClinVar |
6 | g.80168978T>A | CA364657944 | BCKDHB | c.581T>A (p.Leu194His) c.371T>A (p.Leu124His) n.665T>A n.611T>A n.604T>A | |
6 | g.80168978T>C | CA364657945 | BCKDHB | c.581T>C (p.Leu194Pro) c.371T>C (p.Leu124Pro) n.665T>C n.611T>C n.604T>C | |
6 | g.80168978T>G | CA364657946 | BCKDHB | c.581T>G (p.Leu194Arg) c.371T>G (p.Leu124Arg) n.665T>G n.611T>G n.604T>G | |
6 | g.80168979C>A | CA451072858 | BCKDHB | c.582C>A (p.Leu194=) c.372C>A (p.Leu124=) n.666C>A n.612C>A n.605C>A | |
6 | g.80168979C= | CA1640937796 | BCKDHB | c.582C= (p.Leu194=) c.372C= (p.Leu124=) n.666C= n.612C= n.605C= | |
6 | g.80168979C>G | CA451072859 | BCKDHB | c.582C>G (p.Leu194=) c.372C>G (p.Leu124=) n.666C>G n.612C>G n.605C>G | ClinVar dbSNP gnomAD v4 |
6 | g.80168979C>T | CA451072860 | BCKDHB | c.582C>T (p.Leu194=) c.372C>T (p.Leu124=) n.666C>T n.612C>T n.605C>T | |
6 | g.80168980T>A | CA364657952 | BCKDHB | c.583T>A (p.Tyr195Asn) c.373T>A (p.Tyr125Asn) n.667T>A n.613T>A n.606T>A | gnomAD v4 |
6 | g.80168980T>C | CA364657950 | BCKDHB | c.583T>C (p.Tyr195His) c.373T>C (p.Tyr125His) n.667T>C n.613T>C n.606T>C | gnomAD v4 |
6 | g.80168980T>G | CA364657951 | BCKDHB | c.583T>G (p.Tyr195Asp) c.373T>G (p.Tyr125Asp) n.667T>G n.613T>G n.606T>G | |
6 | g.80168980dup | CA916082890 | BCKDHB | c.583dup (p.Tyr195LeufsTer7) c.373dup (p.Tyr125LeufsTer7) n.667dup n.613dup n.606dup | ClinVar dbSNP gnomAD v4 |
6 | g.80168981A= | CA1640937797 | BCKDHB | c.584A= (p.Tyr195=) c.374A= (p.Tyr125=) n.668A= n.614A= n.607A= | |
6 | g.80168981A>C | CA364657954 | BCKDHB | c.584A>C (p.Tyr195Ser) c.374A>C (p.Tyr125Ser) n.668A>C n.614A>C n.607A>C | |
6 | g.80168981A>G | CA142284038 | BCKDHB | c.584A>G (p.Tyr195Cys) c.374A>G (p.Tyr125Cys) n.668A>G n.614A>G n.607A>G | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.80168981A>T | CA364657957 | BCKDHB | c.584A>T (p.Tyr195Phe) c.374A>T (p.Tyr125Phe) n.668A>T n.614A>T n.607A>T | |
6 | g.80168982T>A | CA364657960 | BCKDHB | c.585T>A (p.Tyr195Ter) c.375T>A (p.Tyr125Ter) n.669T>A n.615T>A n.608T>A | ClinVar |
6 | g.80168982T>C | CA451072861 | BCKDHB | c.585T>C (p.Tyr195=) c.375T>C (p.Tyr125=) n.669T>C n.615T>C n.608T>C | |
6 | g.80168982T>G | CA364657962 | BCKDHB | c.585T>G (p.Tyr195Ter) c.375T>G (p.Tyr125Ter) n.669T>G n.615T>G n.608T>G | |
6 | g.80168983C>A | CA364657964 | BCKDHB | c.586C>A (p.His196Asn) c.376C>A (p.His126Asn) n.670C>A n.616C>A n.609C>A | |
6 | g.80168983C>G | CA364657968 | BCKDHB | c.586C>G (p.His196Asp) c.376C>G (p.His126Asp) n.670C>G n.616C>G n.609C>G | |
6 | g.80168983C>T | CA364657966 | BCKDHB | c.586C>T (p.His196Tyr) c.376C>T (p.His126Tyr) n.670C>T n.616C>T n.609C>T | |
6 | g.80168984A= | CA1640937798 | BCKDHB | c.587A= (p.His196=) c.377A= (p.His126=) n.671A= n.617A= n.610A= | |
6 | g.80168984A>C | CA364657972 | BCKDHB | c.587A>C (p.His196Pro) c.377A>C (p.His126Pro) n.671A>C n.617A>C n.610A>C | COSMIC |
6 | g.80168984A>G | CA364657974 | BCKDHB | c.587A>G (p.His196Arg) c.377A>G (p.His126Arg) n.671A>G n.617A>G n.610A>G | |
6 | g.80168984A>T | CA224321 | BCKDHB | c.587A>T (p.His196Leu) c.377A>T (p.His126Leu) n.671A>T n.617A>T n.610A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.80168985T>A | CA364657979 | BCKDHB | c.588T>A (p.His196Gln) c.378T>A (p.His126Gln) n.672T>A n.618T>A n.611T>A | |
6 | g.80168985T>C | CA451072862 | BCKDHB | c.588T>C (p.His196=) c.378T>C (p.His126=) n.672T>C n.618T>C n.611T>C | |
6 | g.80168985T>G | CA364657981 | BCKDHB | c.588T>G (p.His196Gln) c.378T>G (p.His126Gln) n.672T>G n.618T>G n.611T>G | |
6 | g.80168986T>A | CA364657983 | BCKDHB | c.589T>A (p.Ser197Thr) c.379T>A (p.Ser127Thr) n.673T>A n.619T>A n.612T>A | |
6 | g.80168986T>C | CA364657985 | BCKDHB | c.589T>C (p.Ser197Pro) c.379T>C (p.Ser127Pro) n.673T>C n.619T>C n.612T>C | |
6 | g.80168986T>G | CA364657987 | BCKDHB | c.589T>G (p.Ser197Ala) c.379T>G (p.Ser127Ala) n.673T>G n.619T>G n.612T>G | |
6 | g.80168987C>A | CA364657990 | BCKDHB | c.590C>A (p.Ser197Tyr) c.380C>A (p.Ser127Tyr) n.674C>A n.620C>A n.613C>A | |
6 | g.80168987C>G | CA364657992 | BCKDHB | c.590C>G (p.Ser197Cys) c.380C>G (p.Ser127Cys) n.674C>G n.620C>G n.613C>G | |
6 | g.80168987C>T | CA364657994 | BCKDHB | c.590C>T (p.Ser197Phe) c.380C>T (p.Ser127Phe) n.674C>T n.620C>T n.613C>T | |
6 | g.80168988T>A | CA451072864 | BCKDHB | c.591T>A (p.Ser197=) c.381T>A (p.Ser127=) n.675T>A n.621T>A n.614T>A | ClinVar |
6 | g.80168988T>C | CA451072865 | BCKDHB | c.591T>C (p.Ser197=) c.381T>C (p.Ser127=) n.675T>C n.621T>C n.614T>C | |
6 | g.80168988T>G | CA451072863 | BCKDHB | c.591T>G (p.Ser197=) c.381T>G (p.Ser127=) n.675T>G n.621T>G n.614T>G | gnomAD v4 |
6 | g.80168988_80168990delinsTCA | CA1640937799 | BCKDHB | c.591_593delinsTCA (p.Ser197=) c.381_383delinsTCA (p.Ser127=) n.675_677delinsTCA n.621_623delinsTCA n.614_616delinsTCA | |
6 | g.80168989C>A | CA364657998 | BCKDHB | c.592C>A (p.Gln198Lys) c.382C>A (p.Gln128Lys) n.676C>A n.622C>A n.615C>A | |
6 | g.80168989C>G | CA364658001 | BCKDHB | c.592C>G (p.Gln198Glu) c.382C>G (p.Gln128Glu) n.676C>G n.622C>G n.615C>G | |
6 | g.80168989C>T | CA364658002 | BCKDHB | c.592C>T (p.Gln198Ter) c.382C>T (p.Gln128Ter) n.676C>T n.622C>T n.615C>T | |
6 | g.80168989_80168990del | CA224324 | BCKDHB | c.592_593del (p.Gln198GlufsTer3) c.382_383del (p.Gln128GlufsTer3) n.676_677del n.622_623del n.615_616del | ClinVar dbSNP |
6 | g.80168989_80168991delinsCAG | CA1640937800 | BCKDHB | c.592_594delinsCAG (p.Gln198=) c.382_384delinsCAG (p.Gln128=) n.676_678delinsCAG n.622_624delinsCAG n.615_617delinsCAG | |
6 | g.80168990A>C | CA364658009 | BCKDHB | c.593A>C (p.Gln198Pro) c.383A>C (p.Gln128Pro) n.677A>C n.623A>C n.616A>C | |
6 | g.80168990A>G | CA364658011 | BCKDHB | c.593A>G (p.Gln198Arg) c.383A>G (p.Gln128Arg) n.677A>G n.623A>G n.616A>G | dbSNP |
6 | g.80168990A>T | CA364658013 | BCKDHB | c.593A>T (p.Gln198Leu) c.383A>T (p.Gln128Leu) n.677A>T n.623A>T n.616A>T | ClinVar |
6 | g.80168992_80168993del | CA224325 | BCKDHB | c.595_596del (p.Pro200Ter) c.385_386del (p.Pro130Ter) n.679_680del n.625_626del n.618_619del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168991G>A | CA451072866 | BCKDHB | c.594G>A (p.Gln198=) c.384G>A (p.Gln128=) n.678G>A n.624G>A n.617G>A | dbSNP gnomAD v4 |
6 | g.80168991G>C | CA364658019 | BCKDHB | c.594G>C (p.Gln198His) c.384G>C (p.Gln128His) n.678G>C n.624G>C n.617G>C | |
6 | g.80168991G= | CA1640937801 | BCKDHB | c.594G= (p.Gln198=) c.384G= (p.Gln128=) n.678G= n.624G= n.617G= | |
6 | g.80168991G>T | CA364658023 | BCKDHB | c.594G>T (p.Gln198His) c.384G>T (p.Gln128His) n.678G>T n.624G>T n.617G>T | |
6 | g.80168992A>C | CA364658025 | BCKDHB | c.595A>C (p.Ser199Arg) c.385A>C (p.Ser129Arg) n.679A>C n.625A>C n.618A>C | |
6 | g.80168992A>G | CA364658026 | BCKDHB | c.595A>G (p.Ser199Gly) c.385A>G (p.Ser129Gly) n.679A>G n.625A>G n.618A>G | |
6 | g.80168992A>T | CA364658028 | BCKDHB | c.595A>T (p.Ser199Cys) c.385A>T (p.Ser129Cys) n.679A>T n.625A>T n.618A>T | |
6 | g.80168993G>A | CA364658035 | BCKDHB | c.596G>A (p.Ser199Asn) c.386G>A (p.Ser129Asn) n.680G>A n.626G>A n.619G>A | |
6 | g.80168993G>C | CA364658031 | BCKDHB | c.596G>C (p.Ser199Thr) c.386G>C (p.Ser129Thr) n.680G>C n.626G>C n.619G>C | |
6 | g.80168993G>T | CA364658033 | BCKDHB | c.596G>T (p.Ser199Ile) c.386G>T (p.Ser129Ile) n.680G>T n.626G>T n.619G>T | |
6 | g.80168993_80168994del | CA2695206777 | BCKDHB | c.596_597del (p.Ser199ThrfsTer2) c.386_387del (p.Ser129ThrfsTer2) n.680_681del n.626_627del n.619_620del | |
6 | g.80168994T>A | CA364658037 | BCKDHB | c.597T>A (p.Ser199Arg) c.387T>A (p.Ser129Arg) n.681T>A n.627T>A n.620T>A | gnomAD v4 |
6 | g.80168994T>C | CA451072867 | BCKDHB | c.597T>C (p.Ser199=) c.387T>C (p.Ser129=) n.681T>C n.627T>C n.620T>C | |
6 | g.80168994T>G | CA364658039 | BCKDHB | c.597T>G (p.Ser199Arg) c.387T>G (p.Ser129Arg) n.681T>G n.627T>G n.620T>G | |
6 | g.80168995C>A | CA142284039 | BCKDHB | c.598C>A (p.Pro200Thr) c.388C>A (p.Pro130Thr) n.682C>A n.628C>A n.621C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80168995C= | CA1640937802 | BCKDHB | c.598C= (p.Pro200=) c.388C= (p.Pro130=) n.682C= n.628C= n.621C= | |
6 | g.80168995C>G | CA12445320 | BCKDHB | c.598C>G (p.Pro200Ala) c.388C>G (p.Pro130Ala) n.682C>G n.628C>G n.621C>G | dbSNP gnomAD v4 |
6 | g.80168995C>T | CA364658044 | BCKDHB | c.598C>T (p.Pro200Ser) c.388C>T (p.Pro130Ser) n.682C>T n.628C>T n.621C>T | |
6 | g.80168996C>A | CA364658045 | BCKDHB | c.599C>A (p.Pro200His) c.389C>A (p.Pro130His) n.683C>A n.629C>A n.622C>A | |
6 | g.80168996C= | CA1640937803 | BCKDHB | c.599C= (p.Pro200=) c.389C= (p.Pro130=) n.683C= n.629C= n.622C= | |
6 | g.80168996C>G | CA364658048 | BCKDHB | c.599C>G (p.Pro200Arg) c.389C>G (p.Pro130Arg) n.683C>G n.629C>G n.622C>G | |
6 | g.80168996C>T | CA364658050 | BCKDHB | c.599C>T (p.Pro200Leu) c.389C>T (p.Pro130Leu) n.683C>T n.629C>T n.622C>T | ClinVar dbSNP |
6 | g.80168997T>A | CA451072868 | BCKDHB | c.600T>A (p.Pro200=) c.390T>A (p.Pro130=) n.684T>A n.630T>A n.623T>A | |
6 | g.80168997T>C | CA451072869 | BCKDHB | c.600T>C (p.Pro200=) c.390T>C (p.Pro130=) n.684T>C n.630T>C n.623T>C | |
6 | g.80168997T>G | CA142284040 | BCKDHB | c.600T>G (p.Pro200=) c.390T>G (p.Pro130=) n.684T>G n.630T>G n.623T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.80168997T= | CA1640937804 | BCKDHB | c.600T= (p.Pro200=) c.390T= (p.Pro130=) n.684T= n.630T= n.623T= | |
6 | g.80168998G>A | CA364658052 | BCKDHB | c.601G>A (p.Glu201Lys) c.391G>A (p.Glu131Lys) n.685G>A n.631G>A n.624G>A | |
6 | g.80168998G>C | CA364658053 | BCKDHB | c.601G>C (p.Glu201Gln) c.391G>C (p.Glu131Gln) n.685G>C n.631G>C n.624G>C | |
6 | g.80168998G>T | CA364658055 | BCKDHB | c.601G>T (p.Glu201Ter) c.391G>T (p.Glu131Ter) n.685G>T n.631G>T n.624G>T | |
6 | g.80168999A= | CA1640937805 | BCKDHB | c.602A= (p.Glu201=) c.392A= (p.Glu131=) n.686A= n.632A= n.625A= | |
6 | g.80168999A>C | CA364658059 | BCKDHB | c.602A>C (p.Glu201Ala) c.392A>C (p.Glu131Ala) n.686A>C n.632A>C n.625A>C | |
6 | g.80168999A>G | CA364658061 | BCKDHB | c.602A>G (p.Glu201Gly) c.392A>G (p.Glu131Gly) n.686A>G n.632A>G n.625A>G | dbSNP |
6 | g.80168999A>T | CA364658057 | BCKDHB | c.602A>T (p.Glu201Val) c.392A>T (p.Glu131Val) n.686A>T n.632A>T n.625A>T | |
6 | g.80168999_80169004del | CA2771864311 | BCKDHB | c.602_607del (p.Glu201_Phe203delinsVal) c.392_397del (p.Glu131_Phe133delinsVal) n.686_691del n.632_637del n.625_630del | |
6 | g.80169000A>C | CA364658063 | BCKDHB | c.603A>C (p.Glu201Asp) c.393A>C (p.Glu131Asp) n.687A>C n.633A>C n.626A>C | |
6 | g.80169000A>G | CA451072870 | BCKDHB | c.603A>G (p.Glu201=) c.393A>G (p.Glu131=) n.687A>G n.633A>G n.626A>G | |
6 | g.80169000A>T | CA364658062 | BCKDHB | c.603A>T (p.Glu201Asp) c.393A>T (p.Glu131Asp) n.687A>T n.633A>T n.626A>T | |
6 | g.80169001G>A | CA3902656 | BCKDHB | c.604G>A (p.Ala202Thr) c.394G>A (p.Ala132Thr) n.688G>A n.634G>A n.627G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169001G>C | CA364658065 | BCKDHB | c.604G>C (p.Ala202Pro) c.394G>C (p.Ala132Pro) n.688G>C n.634G>C n.627G>C | gnomAD v4 |
6 | g.80169001G= | CA1640937806 | BCKDHB | c.604G= (p.Ala202=) c.394G= (p.Ala132=) n.688G= n.634G= n.627G= | |
6 | g.80169001G>T | CA364658067 | BCKDHB | c.604G>T (p.Ala202Ser) c.394G>T (p.Ala132Ser) n.688G>T n.634G>T n.627G>T |