Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
6 | g.80169002C>A | CA364658069 | BCKDHB | c.605C>A (p.Ala202Glu) c.395C>A (p.Ala132Glu) n.689C>A n.635C>A n.628C>A | |
6 | g.80169002C= | CA1640937807 | BCKDHB | c.605C= (p.Ala202=) c.395C= (p.Ala132=) n.689C= n.635C= n.628C= | |
6 | g.80169002C>G | CA364658071 | BCKDHB | c.605C>G (p.Ala202Gly) c.395C>G (p.Ala132Gly) n.689C>G n.635C>G n.628C>G | |
6 | g.80169002C>T | CA224326 | BCKDHB | c.605C>T (p.Ala202Val) c.395C>T (p.Ala132Val) n.689C>T n.635C>T n.628C>T | ClinVar dbSNP |
6 | g.80169003A>C | CA451072871 | BCKDHB | c.606A>C (p.Ala202=) c.396A>C (p.Ala132=) n.690A>C n.636A>C n.629A>C | |
6 | g.80169003A>G | CA451072872 | BCKDHB | c.606A>G (p.Ala202=) c.396A>G (p.Ala132=) n.690A>G n.636A>G n.629A>G | |
6 | g.80169003A>T | CA451072873 | BCKDHB | c.606A>T (p.Ala202=) c.396A>T (p.Ala132=) n.690A>T n.636A>T n.629A>T | |
6 | g.80169003_80169004delinsAT | CA1640937808 | BCKDHB | c.606_607delinsAT (p.Ala202=) c.396_397delinsAT (p.Ala132=) n.690_691delinsAT n.636_637delinsAT n.629_630delinsAT | |
6 | g.80169004T>A | CA364658074 | BCKDHB | c.607T>A (p.Phe203Ile) c.397T>A (p.Phe133Ile) n.691T>A n.637T>A n.630T>A | |
6 | g.80169004T>C | CA364658075 | BCKDHB | c.607T>C (p.Phe203Leu) c.397T>C (p.Phe133Leu) n.691T>C n.637T>C n.630T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169004T>G | CA364658078 | BCKDHB | c.607T>G (p.Phe203Val) c.397T>G (p.Phe133Val) n.691T>G n.637T>G n.630T>G | |
6 | g.80169004T= | CA1640937809 | BCKDHB | c.607T= (p.Phe203=) c.397T= (p.Phe133=) n.691T= n.637T= n.630T= | |
6 | g.80169009dup | CA828548195 | BCKDHB | c.612dup (p.Ala205CysfsTer28) c.612dup (p.Ala205CysfsTer18) c.402dup (p.Ala135CysfsTer28) n.696dup n.642dup n.635dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.80169009del | CA568398641 | BCKDHB | c.612del (p.Phe204LeufsTer26) c.612del (p.Phe204LeufsTer12) c.402del (p.Phe134LeufsTer26) n.696del n.642del n.635del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.80169005T>A | CA364658081 | BCKDHB | c.608T>A (p.Phe203Tyr) c.398T>A (p.Phe133Tyr) n.692T>A n.638T>A n.631T>A | COSMIC |
6 | g.80169005T>C | CA364658083 | BCKDHB | c.608T>C (p.Phe203Ser) c.398T>C (p.Phe133Ser) n.692T>C n.638T>C n.631T>C | |
6 | g.80169005T>G | CA364658085 | BCKDHB | c.608T>G (p.Phe203Cys) c.398T>G (p.Phe133Cys) n.692T>G n.638T>G n.631T>G | |
6 | g.80169006T>A | CA364658090 | BCKDHB | c.609T>A (p.Phe203Leu) c.399T>A (p.Phe133Leu) n.693T>A n.639T>A n.632T>A | |
6 | g.80169006T>C | CA451072874 | BCKDHB | c.609T>C (p.Phe203=) c.399T>C (p.Phe133=) n.693T>C n.639T>C n.632T>C | |
6 | g.80169006T>G | CA3902657 | BCKDHB | c.609T>G (p.Phe203Leu) c.399T>G (p.Phe133Leu) n.693T>G n.639T>G n.632T>G | dbSNP ExAC gnomAD v2 |
6 | g.80169006T= | CA1640937810 | BCKDHB | c.609T= (p.Phe203=) c.399T= (p.Phe133=) n.693T= n.639T= n.632T= | |
6 | g.80169007T>A | CA364658093 | BCKDHB | c.610T>A (p.Phe204Ile) c.400T>A (p.Phe134Ile) n.694T>A n.640T>A n.633T>A | |
6 | g.80169007T>C | CA364658094 | BCKDHB | c.610T>C (p.Phe204Leu) c.400T>C (p.Phe134Leu) n.694T>C n.640T>C n.633T>C | |
6 | g.80169007T>G | CA364658096 | BCKDHB | c.610T>G (p.Phe204Val) c.400T>G (p.Phe134Val) n.694T>G n.640T>G n.633T>G | |
6 | g.80169008T>A | CA364658098 | BCKDHB | c.611T>A (p.Phe204Tyr) c.401T>A (p.Phe134Tyr) n.695T>A n.641T>A n.634T>A | |
6 | g.80169008T>C | CA364658100 | BCKDHB | c.611T>C (p.Phe204Ser) c.401T>C (p.Phe134Ser) n.695T>C n.641T>C n.634T>C | dbSNP gnomAD v4 |
6 | g.80169008T>G | CA364658101 | BCKDHB | c.611T>G (p.Phe204Cys) c.401T>G (p.Phe134Cys) n.695T>G n.641T>G n.634T>G | |
6 | g.80169008T= | CA1640937811 | BCKDHB | c.611T= (p.Phe204=) c.401T= (p.Phe134=) n.695T= n.641T= n.634T= | |
6 | g.80169009T>A | CA364658105 | BCKDHB | c.612T>A (p.Phe204Leu) c.402T>A (p.Phe134Leu) n.696T>A n.642T>A n.635T>A | |
6 | g.80169009T>C | CA451072875 | BCKDHB | c.612T>C (p.Phe204=) c.402T>C (p.Phe134=) n.696T>C n.642T>C n.635T>C | |
6 | g.80169009T>G | CA364658107 | BCKDHB | c.612T>G (p.Phe204Leu) c.402T>G (p.Phe134Leu) n.696T>G n.642T>G n.635T>G | |
6 | g.80169010G>A | CA364658109 | BCKDHB | c.613G>A (p.Ala205Thr) c.403G>A (p.Ala135Thr) n.697G>A n.643G>A n.636G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80169010G>C | CA364658110 | BCKDHB | c.613G>C (p.Ala205Pro) c.403G>C (p.Ala135Pro) n.697G>C n.643G>C n.636G>C | |
6 | g.80169010G= | CA1640937812 | BCKDHB | c.613G= (p.Ala205=) c.403G= (p.Ala135=) n.697G= n.643G= n.636G= | |
6 | g.80169010G>T | CA364658111 | BCKDHB | c.613G>T (p.Ala205Ser) c.403G>T (p.Ala135Ser) n.697G>T n.643G>T n.636G>T | |
6 | g.80169011C>A | CA364658113 | BCKDHB | c.614C>A (p.Ala205Asp) c.404C>A (p.Ala135Asp) n.698C>A n.644C>A n.637C>A | |
6 | g.80169011C>G | CA364658114 | BCKDHB | c.614C>G (p.Ala205Gly) c.404C>G (p.Ala135Gly) n.698C>G n.644C>G n.637C>G | |
6 | g.80169011C>T | CA364658115 | BCKDHB | c.614C>T (p.Ala205Val) c.404C>T (p.Ala135Val) n.698C>T n.644C>T n.637C>T | |
6 | g.80169013dup | CA2679498026 | BCKDHB | c.616dup (p.His206ProfsTer27) c.616dup (p.His206ProfsTer17) c.406dup (p.His136ProfsTer27) n.700dup n.646dup n.639dup | gnomAD v4 |
6 | g.80169012C>A | CA451072876 | BCKDHB | c.615C>A (p.Ala205=) c.405C>A (p.Ala135=) n.699C>A n.645C>A n.638C>A | |
6 | g.80169012C= | CA1640937813 | BCKDHB | c.615C= (p.Ala205=) c.405C= (p.Ala135=) n.699C= n.645C= n.638C= | |
6 | g.80169012C>G | CA451072877 | BCKDHB | c.615C>G (p.Ala205=) c.405C>G (p.Ala135=) n.699C>G n.645C>G n.638C>G | |
6 | g.80169012C>T | CA3902658 | BCKDHB | c.615C>T (p.Ala205=) c.405C>T (p.Ala135=) n.699C>T n.645C>T n.638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80169013C>A | CA364658119 | BCKDHB | c.616C>A (p.His206Asn) c.406C>A (p.His136Asn) n.700C>A n.646C>A n.639C>A | |
6 | g.80169013C= | CA1640937814 | BCKDHB | c.616C= (p.His206=) c.406C= (p.His136=) n.700C= n.646C= n.639C= | |
6 | g.80169013C>G | CA364658118 | BCKDHB | c.616C>G (p.His206Asp) c.406C>G (p.His136Asp) n.700C>G n.646C>G n.639C>G | |
6 | g.80169013C>T | CA121791 | BCKDHB | c.616C>T (p.His206Tyr) c.406C>T (p.His136Tyr) n.700C>T n.646C>T n.639C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80169014A= | CA1640937815 | BCKDHB | c.617A= (p.His206=) c.407A= (p.His136=) n.701A= n.647A= n.640A= | |
6 | g.80169014A>C | CA364658120 | BCKDHB | c.617A>C (p.His206Pro) c.407A>C (p.His136Pro) n.701A>C n.647A>C n.640A>C | ClinVar dbSNP gnomAD v4 |
6 | g.80169014A>G | CA364658121 | BCKDHB | c.617A>G (p.His206Arg) c.407A>G (p.His136Arg) n.701A>G n.647A>G n.640A>G | |
6 | g.80169014A>T | CA364658122 | BCKDHB | c.617A>T (p.His206Leu) c.407A>T (p.His136Leu) n.701A>T n.647A>T n.640A>T | |
6 | g.80169015T>A | CA364658123 | BCKDHB | c.618T>A (p.His206Gln) c.408T>A (p.His136Gln) n.702T>A n.648T>A n.641T>A | |
6 | g.80169015T>C | CA451072878 | BCKDHB | c.618T>C (p.His206=) c.408T>C (p.His136=) n.702T>C n.648T>C n.641T>C | gnomAD v4 |
6 | g.80169015T>G | CA364658124 | BCKDHB | c.618T>G (p.His206Gln) c.408T>G (p.His136Gln) n.702T>G n.648T>G n.641T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.80169015T= | CA1640937816 | BCKDHB | c.618T= (p.His206=) c.408T= (p.His136=) n.702T= n.648T= n.641T= | |
6 | g.80169016T>A | CA364658126 | BCKDHB | c.619T>A (p.Cys207Ser) c.409T>A (p.Cys137Ser) n.703T>A n.649T>A n.642T>A | dbSNP gnomAD v2 |
6 | g.80169016T>C | CA364658129 | BCKDHB | c.619T>C (p.Cys207Arg) c.409T>C (p.Cys137Arg) n.703T>C n.649T>C n.642T>C | |
6 | g.80169016T>G | CA364658131 | BCKDHB | c.619T>G (p.Cys207Gly) c.409T>G (p.Cys137Gly) n.703T>G n.649T>G n.642T>G | |
6 | g.80169016T= | CA1640937817 | BCKDHB | c.619T= (p.Cys207=) c.409T= (p.Cys137=) n.703T= n.649T= n.642T= | |
6 | g.80169017G>A | CA364658133 | BCKDHB | c.620G>A (p.Cys207Tyr) c.410G>A (p.Cys137Tyr) n.704G>A n.650G>A n.643G>A | COSMIC |
6 | g.80169017G>C | CA364658134 | BCKDHB | c.620G>C (p.Cys207Ser) c.410G>C (p.Cys137Ser) n.704G>C n.650G>C n.643G>C | |
6 | g.80169017G= | CA1640937818 | BCKDHB | c.620G= (p.Cys207=) c.410G= (p.Cys137=) n.704G= n.650G= n.643G= | |
6 | g.80169017G>T | CA364658136 | BCKDHB | c.620G>T (p.Cys207Phe) c.410G>T (p.Cys137Phe) n.704G>T n.650G>T n.643G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80169017_80169030delinsTCCCAGGAATCAAC | CA2695206778 | BCKDHB | c.620_633delinsTCCCAGGAATCAAC (p.Cys207_Lys211delinsPheProGlyIleAsn) c.410_423delinsTCCCAGGAATCAAC (p.Cys137_Lys141delinsPheProGlyIleAsn) n.704_717delinsTCCCAGGAATCAAC n.650_663delinsTCCCAGGAATCAAC n.643_656delinsTCCCAGGAATCAAC | |
6 | g.80169018C>A | CA364658143 | BCKDHB | c.621C>A (p.Cys207Ter) c.411C>A (p.Cys137Ter) n.705C>A n.651C>A n.644C>A | |
6 | g.80169018C>G | CA364658139 | BCKDHB | c.621C>G (p.Cys207Trp) c.411C>G (p.Cys137Trp) n.705C>G n.651C>G n.644C>G | |
6 | g.80169018C>T | CA451072879 | BCKDHB | c.621C>T (p.Cys207=) c.411C>T (p.Cys137=) n.705C>T n.651C>T n.644C>T | |
6 | g.80169019C>A | CA364658146 | BCKDHB | c.622C>A (p.Pro208Thr) c.412C>A (p.Pro138Thr) n.706C>A n.652C>A n.645C>A | dbSNP gnomAD v2 |
6 | g.80169019C= | CA1640937819 | BCKDHB | c.622C= (p.Pro208=) c.412C= (p.Pro138=) n.706C= n.652C= n.645C= | |
6 | g.80169019C>G | CA3902659 | BCKDHB | c.622C>G (p.Pro208Ala) c.412C>G (p.Pro138Ala) n.706C>G n.652C>G n.645C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80169019C>T | CA364658149 | BCKDHB | c.622C>T (p.Pro208Ser) c.412C>T (p.Pro138Ser) n.706C>T n.652C>T n.645C>T | gnomAD v4 |
6 | g.80169020C>A | CA364658152 | BCKDHB | c.623C>A (p.Pro208Gln) c.413C>A (p.Pro138Gln) n.707C>A n.653C>A n.646C>A | |
6 | g.80169020C= | CA1640937820 | BCKDHB | c.623C= (p.Pro208=) c.413C= (p.Pro138=) n.707C= n.653C= n.646C= | |
6 | g.80169020C>G | CA364658153 | BCKDHB | c.623C>G (p.Pro208Arg) c.413C>G (p.Pro138Arg) n.707C>G n.653C>G n.646C>G | |
6 | g.80169020C>T | CA364658154 | BCKDHB | c.623C>T (p.Pro208Leu) c.413C>T (p.Pro138Leu) n.707C>T n.653C>T n.646C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80169021A= | CA1640937821 | BCKDHB | c.624A= (p.Pro208=) c.414A= (p.Pro138=) n.708A= n.654A= n.647A= | |
6 | g.80169021A>C | CA451072880 | BCKDHB | c.624A>C (p.Pro208=) c.414A>C (p.Pro138=) n.708A>C n.654A>C n.647A>C | |
6 | g.80169021A>G | CA142284041 | BCKDHB | c.624A>G (p.Pro208=) c.414A>G (p.Pro138=) n.708A>G n.654A>G n.647A>G | dbSNP gnomAD v4 |
6 | g.80169021A>T | CA451072881 | BCKDHB | c.624A>T (p.Pro208=) c.414A>T (p.Pro138=) n.708A>T n.654A>T n.647A>T | |
6 | g.80169022G>A | CA364658157 | BCKDHB | c.625G>A (p.Gly209Arg) c.415G>A (p.Gly139Arg) n.709G>A n.655G>A n.648G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80169022G>C | CA364658158 | BCKDHB | c.625G>C (p.Gly209Arg) c.415G>C (p.Gly139Arg) n.709G>C n.655G>C n.648G>C | |
6 | g.80169022G= | CA1640937822 | BCKDHB | c.625G= (p.Gly209=) c.415G= (p.Gly139=) n.709G= n.655G= n.648G= | |
6 | g.80169022G>T | CA364658160 | BCKDHB | c.625G>T (p.Gly209Ter) c.415G>T (p.Gly139Ter) n.709G>T n.655G>T n.648G>T | ClinVar dbSNP |
6 | g.80169023G>A | CA364658162 | BCKDHB | c.626G>A (p.Gly209Glu) c.416G>A (p.Gly139Glu) n.710G>A n.656G>A n.649G>A | dbSNP gnomAD v4 |
6 | g.80169023G>C | CA364658163 | BCKDHB | c.626G>C (p.Gly209Ala) c.416G>C (p.Gly139Ala) n.710G>C n.656G>C n.649G>C | |
6 | g.80169023G= | CA1640937823 | BCKDHB | c.626G= (p.Gly209=) c.416G= (p.Gly139=) n.710G= n.656G= n.649G= | |
6 | g.80169023G>T | CA364658165 | BCKDHB | c.626G>T (p.Gly209Val) c.416G>T (p.Gly139Val) n.710G>T n.656G>T n.649G>T | dbSNP gnomAD v2 |
6 | g.80169024A>C | CA451072882 | BCKDHB | c.627A>C (p.Gly209=) c.417A>C (p.Gly139=) n.711A>C n.657A>C n.650A>C | |
6 | g.80169024A>G | CA451072883 | BCKDHB | c.627A>G (p.Gly209=) c.417A>G (p.Gly139=) n.711A>G n.657A>G n.650A>G | |
6 | g.80169024A>T | CA451072884 | BCKDHB | c.627A>T (p.Gly209=) c.417A>T (p.Gly139=) n.711A>T n.657A>T n.650A>T | |
6 | g.80169025A>C | CA364658167 | BCKDHB | c.628A>C (p.Ile210Leu) c.418A>C (p.Ile140Leu) n.712A>C n.658A>C n.651A>C | |
6 | g.80169025A>G | CA364658171 | BCKDHB | c.628A>G (p.Ile210Val) c.418A>G (p.Ile140Val) n.712A>G n.658A>G n.651A>G | |
6 | g.80169025A>T | CA364658169 | BCKDHB | c.628A>T (p.Ile210Phe) c.418A>T (p.Ile140Phe) n.712A>T n.658A>T n.651A>T | |
6 | g.80169025_80169026insGTCTTTCCCTCCCTTCCTTTC | CA2771864312 | BCKDHB | c.628_629insGTCTTTCCCTCCCTTCCTTTC (p.Ile210delinsSerLeuSerLeuProSerPheLeu) c.418_419insGTCTTTCCCTCCCTTCCTTTC (p.Ile140delinsSerLeuSerLeuProSerPheLeu) n.712_713insGTCTTTCCCTCCCTTCCTTTC n.658_659insGTCTTTCCCTCCCTTCCTTTC n.651_652insGTCTTTCCCTCCCTTCCTTTC | |
6 | g.80169026T>A | CA364658174 | BCKDHB | c.629T>A (p.Ile210Asn) c.419T>A (p.Ile140Asn) n.713T>A n.659T>A n.652T>A | gnomAD v4 |
6 | g.80169026T>C | CA364658178 | BCKDHB | c.629T>C (p.Ile210Thr) c.419T>C (p.Ile140Thr) n.713T>C n.659T>C n.652T>C | |
6 | g.80169026T>G | CA364658176 | BCKDHB | c.629T>G (p.Ile210Ser) c.419T>G (p.Ile140Ser) n.713T>G n.659T>G n.652T>G | |
6 | g.80169027C>A | CA451072885 | BCKDHB | c.630C>A (p.Ile210=) c.420C>A (p.Ile140=) n.714C>A n.660C>A n.653C>A | |
6 | g.80169027C>G | CA364658179 | BCKDHB | c.630C>G (p.Ile210Met) c.420C>G (p.Ile140Met) n.714C>G n.660C>G n.653C>G | gnomAD v4 |
6 | g.80169027C>T | CA451072886 | BCKDHB | c.630C>T (p.Ile210=) c.420C>T (p.Ile140=) n.714C>T n.660C>T n.653C>T | |
6 | g.80169028A= | CA1640937824 | BCKDHB | c.631A= (p.Lys211=) c.421A= (p.Lys141=) n.715A= n.661A= n.654A= | |
6 | g.80169028A>C | CA364658185 | BCKDHB | c.631A>C (p.Lys211Gln) c.421A>C (p.Lys141Gln) n.715A>C n.661A>C n.654A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80169028A>G | CA364658184 | BCKDHB | c.631A>G (p.Lys211Glu) c.421A>G (p.Lys141Glu) n.715A>G n.661A>G n.654A>G | |
6 | g.80169028A>T | CA364658186 | BCKDHB | c.631A>T (p.Lys211Ter) c.421A>T (p.Lys141Ter) n.715A>T n.661A>T n.654A>T | |
6 | g.80169029A>C | CA364658187 | BCKDHB | c.632A>C (p.Lys211Thr) c.422A>C (p.Lys141Thr) n.716A>C n.662A>C n.655A>C | |
6 | g.80169029A>G | CA364658189 | BCKDHB | c.632A>G (p.Lys211Arg) c.422A>G (p.Lys141Arg) n.716A>G n.662A>G n.655A>G | gnomAD v4 |
6 | g.80169029A>T | CA364658188 | BCKDHB | c.632A>T (p.Lys211Met) c.422A>T (p.Lys141Met) n.716A>T n.662A>T n.655A>T | |
6 | g.80169030G>A | CA3902661 | BCKDHB | c.633G>A (p.Lys211=) c.423G>A (p.Lys141=) n.717G>A n.663G>A n.656G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169030G>C | CA3902660 | BCKDHB | c.633G>C (p.Lys211Asn) c.423G>C (p.Lys141Asn) n.717G>C n.663G>C n.656G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169030G= | CA1640937825 | BCKDHB | c.633G= (p.Lys211=) c.423G= (p.Lys141=) n.717G= n.663G= n.656G= | |
6 | g.80169030G>T | CA364658197 | BCKDHB | c.633G>T (p.Lys211Asn) c.423G>T (p.Lys141Asn) n.717G>T n.663G>T n.656G>T | |
6 | g.80169031G>A | CA224330 | BCKDHB | c.633+1G>A (n.633+1G>A) c.423+1G>A (n.423+1G>A) n.717+1G>A n.663+1G>A n.656+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169031G>C | CA364658203 | BCKDHB | c.633+1G>C (n.633+1G>C) c.423+1G>C (n.423+1G>C) n.717+1G>C n.663+1G>C n.656+1G>C | ClinVar dbSNP gnomAD v4 |
6 | g.80169031G= | CA1640937826 | BCKDHB | c.633+1G= (n.633+1G=) c.423+1G= (n.423+1G=) n.717+1G= n.663+1G= n.656+1G= | |
6 | g.80169031G>T | CA364658206 | BCKDHB | c.633+1G>T (n.633+1G>T) c.423+1G>T (n.423+1G>T) n.717+1G>T n.663+1G>T n.656+1G>T | ClinVar dbSNP |
6 | g.80169032T>A | CA364658208 | BCKDHB | c.633+2T>A (n.633+2T>A) c.423+2T>A (n.423+2T>A) n.717+2T>A n.663+2T>A n.656+2T>A | |
6 | g.80169032T>C | CA364658210 | BCKDHB | c.633+2T>C (n.633+2T>C) c.423+2T>C (n.423+2T>C) n.717+2T>C n.663+2T>C n.656+2T>C | ClinVar |
6 | g.80169032T>G | CA364658212 | BCKDHB | c.633+2T>G (n.633+2T>G) c.423+2T>G (n.423+2T>G) n.717+2T>G n.663+2T>G n.656+2T>G | |
6 | g.80169033A= | CA1640937827 | BCKDHB | c.633+3A= (n.633+3A=) c.423+3A= (n.423+3A=) n.717+3A= n.663+3A= n.656+3A= | |
6 | g.80169033A>G | CA142284042 | BCKDHB | c.633+3A>G (n.633+3A>G) c.423+3A>G (n.423+3A>G) n.717+3A>G n.663+3A>G n.656+3A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80169034T>C | CA142284043 | BCKDHB | c.633+4T>C (n.633+4T>C) c.423+4T>C (n.423+4T>C) n.717+4T>C n.663+4T>C n.656+4T>C | dbSNP gnomAD v4 |
6 | g.80169034T= | CA1640937828 | BCKDHB | c.633+4T= (n.633+4T=) c.423+4T= (n.423+4T=) n.717+4T= n.663+4T= n.656+4T= | |
6 | g.80169035_80169036del | CA2543358247 | BCKDHB | c.633+5_633+6del (n.633+5_633+6del) c.423+5_423+6del (n.423+5_423+6del) n.717+5_717+6del n.663+5_663+6del n.656+5_656+6del | |
6 | g.80169035G>A | CA1640937830 | BCKDHB | c.633+5G>A (n.633+5G>A) c.423+5G>A (n.423+5G>A) n.717+5G>A n.663+5G>A n.656+5G>A | dbSNP |
6 | g.80169035G= | CA1640937829 | BCKDHB | c.633+5G= (n.633+5G=) c.423+5G= (n.423+5G=) n.717+5G= n.663+5G= n.656+5G= | |
6 | g.80169037T>G | CA2578677757 | BCKDHB | c.633+7T>G (n.633+7T>G) c.423+7T>G (n.423+7T>G) n.717+7T>G n.663+7T>G n.656+7T>G | |
6 | g.80169038C>A | CA1090992343 | BCKDHB | c.633+8C>A (n.633+8C>A) c.423+8C>A (n.423+8C>A) n.717+8C>A n.663+8C>A n.656+8C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80169038C= | CA1640937831 | BCKDHB | c.633+8C= (n.633+8C=) c.423+8C= (n.423+8C=) n.717+8C= n.663+8C= n.656+8C= | |
6 | g.80169038_80169039insTCACAAC | CA2528834088 | BCKDHB | c.633+8_633+9insTCACAAC (n.633+8_633+9insTCACAAC) c.423+8_423+9insTCACAAC (n.423+8_423+9insTCACAAC) n.717+8_717+9insTCACAAC n.663+8_663+9insTCACAAC n.656+8_656+9insTCACAAC | |
6 | g.80169041_80169046del | CA2546858935 | BCKDHB | c.633+11_633+16del (n.633+11_633+16del) c.423+11_423+16del (n.423+11_423+16del) n.717+11_717+16del n.663+11_663+16del n.656+11_656+16del | |
6 | g.80169043A= | CA1640937832 | BCKDHB | c.633+13A= (n.633+13A=) c.423+13A= (n.423+13A=) n.717+13A= n.663+13A= n.656+13A= | |
6 | g.80169043A>G | CA142284044 | BCKDHB | c.633+13A>G (n.633+13A>G) c.423+13A>G (n.423+13A>G) n.717+13A>G n.663+13A>G n.656+13A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169043A>T | CA2679498027 | BCKDHB | c.633+13A>T (n.633+13A>T) c.423+13A>T (n.423+13A>T) n.717+13A>T n.663+13A>T n.656+13A>T | gnomAD v4 |
6 | g.80169044T>C | CA3902662 | BCKDHB | c.633+14T>C (n.633+14T>C) c.423+14T>C (n.423+14T>C) n.717+14T>C n.663+14T>C n.656+14T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169044T= | CA1640937833 | BCKDHB | c.633+14T= (n.633+14T=) c.423+14T= (n.423+14T=) n.717+14T= n.663+14T= n.656+14T= | |
6 | g.80169045G>A | CA3902663 | BCKDHB | c.633+15G>A (n.633+15G>A) c.423+15G>A (n.423+15G>A) n.717+15G>A n.663+15G>A n.656+15G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169045G= | CA1640937834 | BCKDHB | c.633+15G= (n.633+15G=) c.423+15G= (n.423+15G=) n.717+15G= n.663+15G= n.656+15G= | |
6 | g.80169045G>T | CA1640937835 | BCKDHB | c.633+15G>T (n.633+15G>T) c.423+15G>T (n.423+15G>T) n.717+15G>T n.663+15G>T n.656+15G>T | dbSNP gnomAD v4 |
6 | g.80169046T>C | CA224329 | BCKDHB | c.633+16T>C (n.633+16T>C) c.423+16T>C (n.423+16T>C) n.717+16T>C n.663+16T>C n.656+16T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169046T= | CA1640937836 | BCKDHB | c.633+16T= (n.633+16T=) c.423+16T= (n.423+16T=) n.717+16T= n.663+16T= n.656+16T= | |
6 | g.80169048C>A | CA2578677758 | BCKDHB | c.633+18C>A (n.633+18C>A) c.423+18C>A (n.423+18C>A) n.717+18C>A n.663+18C>A n.656+18C>A | |
6 | g.80169051del | CA2679498028 | BCKDHB | c.633+21del (n.633+21del) c.423+21del (n.423+21del) n.717+21del n.663+21del n.656+21del | gnomAD v4 |
6 | g.80169051T>C | CA2679498029 | BCKDHB | c.633+21T>C (n.633+21T>C) c.423+21T>C (n.423+21T>C) n.717+21T>C n.663+21T>C n.656+21T>C | gnomAD v4 |
6 | g.80169053T>G | CA3902664 | BCKDHB | c.633+23T>G (n.633+23T>G) c.423+23T>G (n.423+23T>G) n.717+23T>G n.663+23T>G n.656+23T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80169053T= | CA1640937837 | BCKDHB | c.633+23T= (n.633+23T=) c.423+23T= (n.423+23T=) n.717+23T= n.663+23T= n.656+23T= | |
6 | g.80169056G>C | CA2679498030 | BCKDHB | c.633+26G>C (n.633+26G>C) c.423+26G>C (n.423+26G>C) n.717+26G>C n.663+26G>C n.656+26G>C | gnomAD v4 |
6 | g.80169057A>G | CA2679498031 | BCKDHB | c.633+27A>G (n.633+27A>G) c.423+27A>G (n.423+27A>G) n.717+27A>G n.663+27A>G n.656+27A>G | gnomAD v4 |