Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67610403A>CCA381536517NDUFV1c.533A>C (p.Glu178Ala)
c.512A>C (p.Glu171Ala)
n.275A>C
n.392A>C
c.497A>C (p.Glu166Ala)
c.506A>C (p.Glu169Ala)
c.416A>C (p.Glu139Ala)
c.230A>C (p.Glu77Ala)
c.11A>C (p.Glu4Ala)
11g.67610403A>GCA381536519NDUFV1c.533A>G (p.Glu178Gly)
c.512A>G (p.Glu171Gly)
n.275A>G
n.392A>G
c.497A>G (p.Glu166Gly)
c.506A>G (p.Glu169Gly)
c.416A>G (p.Glu139Gly)
c.230A>G (p.Glu77Gly)
c.11A>G (p.Glu4Gly)
11g.67610403A>TCA381536522NDUFV1c.533A>T (p.Glu178Val)
c.512A>T (p.Glu171Val)
n.275A>T
n.392A>T
c.497A>T (p.Glu166Val)
c.506A>T (p.Glu169Val)
c.416A>T (p.Glu139Val)
c.230A>T (p.Glu77Val)
c.11A>T (p.Glu4Val)
11g.67610404G>ACA475412176NDUFV1c.534G>A (p.Glu178=)
c.513G>A (p.Glu171=)
n.276G>A
n.393G>A
c.498G>A (p.Glu166=)
c.507G>A (p.Glu169=)
c.417G>A (p.Glu139=)
c.231G>A (p.Glu77=)
c.12G>A (p.Glu4=)
11g.67610404G>CCA381536525NDUFV1c.534G>C (p.Glu178Asp)
c.513G>C (p.Glu171Asp)
n.276G>C
n.393G>C
c.498G>C (p.Glu166Asp)
c.507G>C (p.Glu169Asp)
c.417G>C (p.Glu139Asp)
c.231G>C (p.Glu77Asp)
c.12G>C (p.Glu4Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.67610404G=CA1980189768NDUFV1c.534G= (p.Glu178=)
c.513G= (p.Glu171=)
n.276G=
n.393G=
c.498G= (p.Glu166=)
c.507G= (p.Glu169=)
c.417G= (p.Glu139=)
c.231G= (p.Glu77=)
c.12G= (p.Glu4=)
11g.67610404G>TCA381536527NDUFV1c.534G>T (p.Glu178Asp)
c.513G>T (p.Glu171Asp)
n.276G>T
n.393G>T
c.498G>T (p.Glu166Asp)
c.507G>T (p.Glu169Asp)
c.417G>T (p.Glu139Asp)
c.231G>T (p.Glu77Asp)
c.12G>T (p.Glu4Asp)
11g.67610405G>ACA381536535NDUFV1c.535G>A (p.Ala179Thr)
c.514G>A (p.Ala172Thr)
n.277G>A
n.394G>A
c.499G>A (p.Ala167Thr)
c.508G>A (p.Ala170Thr)
c.418G>A (p.Ala140Thr)
c.232G>A (p.Ala78Thr)
c.13G>A (p.Ala5Thr)
11g.67610405G>CCA381536533NDUFV1c.535G>C (p.Ala179Pro)
c.514G>C (p.Ala172Pro)
n.277G>C
n.394G>C
c.499G>C (p.Ala167Pro)
c.508G>C (p.Ala170Pro)
c.418G>C (p.Ala140Pro)
c.232G>C (p.Ala78Pro)
c.13G>C (p.Ala5Pro)
11g.67610405G>TCA381536531NDUFV1c.535G>T (p.Ala179Ser)
c.514G>T (p.Ala172Ser)
n.277G>T
n.394G>T
c.499G>T (p.Ala167Ser)
c.508G>T (p.Ala170Ser)
c.418G>T (p.Ala140Ser)
c.232G>T (p.Ala78Ser)
c.13G>T (p.Ala5Ser)
11g.67610406C>ACA381536538NDUFV1c.536C>A (p.Ala179Glu)
c.515C>A (p.Ala172Glu)
n.278C>A
n.395C>A
c.500C>A (p.Ala167Glu)
c.509C>A (p.Ala170Glu)
c.419C>A (p.Ala140Glu)
c.233C>A (p.Ala78Glu)
c.14C>A (p.Ala5Glu)
 gnomAD v4
11g.67610406C=CA1980189771NDUFV1c.536C= (p.Ala179=)
c.515C= (p.Ala172=)
n.278C=
n.395C=
c.500C= (p.Ala167=)
c.509C= (p.Ala170=)
c.419C= (p.Ala140=)
c.233C= (p.Ala78=)
c.14C= (p.Ala5=)
11g.67610406C>GCA381536540NDUFV1c.536C>G (p.Ala179Gly)
c.515C>G (p.Ala172Gly)
n.278C>G
n.395C>G
c.500C>G (p.Ala167Gly)
c.509C>G (p.Ala170Gly)
c.419C>G (p.Ala140Gly)
c.233C>G (p.Ala78Gly)
c.14C>G (p.Ala5Gly)
 dbSNP
11g.67610406C>TCA381536542NDUFV1c.536C>T (p.Ala179Val)
c.515C>T (p.Ala172Val)
n.278C>T
n.395C>T
c.500C>T (p.Ala167Val)
c.509C>T (p.Ala170Val)
c.419C>T (p.Ala140Val)
c.233C>T (p.Ala78Val)
c.14C>T (p.Ala5Val)
 gnomAD v4
11g.67610407A>CCA475412188NDUFV1c.537A>C (p.Ala179=)
c.516A>C (p.Ala172=)
n.279A>C
n.396A>C
c.501A>C (p.Ala167=)
c.510A>C (p.Ala170=)
c.420A>C (p.Ala140=)
c.234A>C (p.Ala78=)
c.15A>C (p.Ala5=)
11g.67610407A>GCA475412190NDUFV1c.537A>G (p.Ala179=)
c.516A>G (p.Ala172=)
n.279A>G
n.396A>G
c.501A>G (p.Ala167=)
c.510A>G (p.Ala170=)
c.420A>G (p.Ala140=)
c.234A>G (p.Ala78=)
c.15A>G (p.Ala5=)
 gnomAD v4
11g.67610407A>TCA475412193NDUFV1c.537A>T (p.Ala179=)
c.516A>T (p.Ala172=)
n.279A>T
n.396A>T
c.501A>T (p.Ala167=)
c.510A>T (p.Ala170=)
c.420A>T (p.Ala140=)
c.234A>T (p.Ala78=)
c.15A>T (p.Ala5=)
 gnomAD v4
11g.67610408G>ACA381536545NDUFV1c.538G>A (p.Gly180Ser)
c.517G>A (p.Gly173Ser)
n.280G>A
n.397G>A
c.502G>A (p.Gly168Ser)
c.511G>A (p.Gly171Ser)
c.421G>A (p.Gly141Ser)
c.235G>A (p.Gly79Ser)
c.16G>A (p.Gly6Ser)
 gnomAD v4
11g.67610408G>CCA381536547NDUFV1c.538G>C (p.Gly180Arg)
c.517G>C (p.Gly173Arg)
n.280G>C
n.397G>C
c.502G>C (p.Gly168Arg)
c.511G>C (p.Gly171Arg)
c.421G>C (p.Gly141Arg)
c.235G>C (p.Gly79Arg)
c.16G>C (p.Gly6Arg)
11g.67610408G>TCA381536549NDUFV1c.538G>T (p.Gly180Cys)
c.517G>T (p.Gly173Cys)
n.280G>T
n.397G>T
c.502G>T (p.Gly168Cys)
c.511G>T (p.Gly171Cys)
c.421G>T (p.Gly141Cys)
c.235G>T (p.Gly79Cys)
c.16G>T (p.Gly6Cys)
 COSMIC
11g.67610409G>ACA381536551NDUFV1c.539G>A (p.Gly180Asp)
c.518G>A (p.Gly173Asp)
n.281G>A
n.398G>A
c.503G>A (p.Gly168Asp)
c.512G>A (p.Gly171Asp)
c.422G>A (p.Gly141Asp)
c.236G>A (p.Gly79Asp)
c.17G>A (p.Gly6Asp)
11g.67610409G>CCA381536553NDUFV1c.539G>C (p.Gly180Ala)
c.518G>C (p.Gly173Ala)
n.281G>C
n.398G>C
c.503G>C (p.Gly168Ala)
c.512G>C (p.Gly171Ala)
c.422G>C (p.Gly141Ala)
c.236G>C (p.Gly79Ala)
c.17G>C (p.Gly6Ala)
11g.67610409G=CA1980189774NDUFV1c.539G= (p.Gly180=)
c.518G= (p.Gly173=)
n.281G=
n.398G=
c.503G= (p.Gly168=)
c.512G= (p.Gly171=)
c.422G= (p.Gly141=)
c.236G= (p.Gly79=)
c.17G= (p.Gly6=)
11g.67610409G>TCA6143208NDUFV1c.539G>T (p.Gly180Val)
c.518G>T (p.Gly173Val)
n.281G>T
n.398G>T
c.503G>T (p.Gly168Val)
c.512G>T (p.Gly171Val)
c.422G>T (p.Gly141Val)
c.236G>T (p.Gly79Val)
c.17G>T (p.Gly6Val)
 dbSNP ExAC gnomAD v2
11g.67610410delCA2614647427NDUFV1c.540del (p.Leu181Ter)
c.519del (p.Leu174Ter)
n.282del
n.399del
c.504del (p.Leu169Ter)
c.513del (p.Leu172Ter)
c.423del (p.Leu142Ter)
c.237del (p.Leu80Ter)
c.18del (p.Leu7Ter)
 gnomAD v4
11g.67610410T>ACA475412212NDUFV1c.540T>A (p.Gly180=)
c.519T>A (p.Gly173=)
n.282T>A
n.399T>A
c.504T>A (p.Gly168=)
c.513T>A (p.Gly171=)
c.423T>A (p.Gly141=)
c.237T>A (p.Gly79=)
c.18T>A (p.Gly6=)
11g.67610410T>CCA475412210NDUFV1c.540T>C (p.Gly180=)
c.519T>C (p.Gly173=)
n.282T>C
n.399T>C
c.504T>C (p.Gly168=)
c.513T>C (p.Gly171=)
c.423T>C (p.Gly141=)
c.237T>C (p.Gly79=)
c.18T>C (p.Gly6=)
11g.67610410T>GCA475412207NDUFV1c.540T>G (p.Gly180=)
c.519T>G (p.Gly173=)
n.282T>G
n.399T>G
c.504T>G (p.Gly168=)
c.513T>G (p.Gly171=)
c.423T>G (p.Gly141=)
c.237T>G (p.Gly79=)
c.18T>G (p.Gly6=)
11g.67610411C>ACA381536557NDUFV1c.541C>A (p.Leu181Met)
c.520C>A (p.Leu174Met)
n.283C>A
n.400C>A
c.505C>A (p.Leu169Met)
c.514C>A (p.Leu172Met)
c.424C>A (p.Leu142Met)
c.238C>A (p.Leu80Met)
c.19C>A (p.Leu7Met)
 gnomAD v4
11g.67610411C=CA1980189781NDUFV1c.541C= (p.Leu181=)
c.520C= (p.Leu174=)
n.283C=
n.400C=
c.505C= (p.Leu169=)
c.514C= (p.Leu172=)
c.424C= (p.Leu142=)
c.238C= (p.Leu80=)
c.19C= (p.Leu7=)
11g.67610411C>GCA381536560NDUFV1c.541C>G (p.Leu181Val)
c.520C>G (p.Leu174Val)
n.283C>G
n.400C>G
c.505C>G (p.Leu169Val)
c.514C>G (p.Leu172Val)
c.424C>G (p.Leu142Val)
c.238C>G (p.Leu80Val)
c.19C>G (p.Leu7Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67610411C>TCA475412219NDUFV1c.541C>T (p.Leu181=)
c.520C>T (p.Leu174=)
n.283C>T
n.400C>T
c.505C>T (p.Leu169=)
c.514C>T (p.Leu172=)
c.424C>T (p.Leu142=)
c.238C>T (p.Leu80=)
c.19C>T (p.Leu7=)
11g.67610412T>ACA381536565NDUFV1c.542T>A (p.Leu181Gln)
c.521T>A (p.Leu174Gln)
n.284T>A
n.401T>A
c.506T>A (p.Leu169Gln)
c.515T>A (p.Leu172Gln)
c.425T>A (p.Leu142Gln)
c.239T>A (p.Leu80Gln)
c.20T>A (p.Leu7Gln)
11g.67610412T>CCA381536568NDUFV1c.542T>C (p.Leu181Pro)
c.521T>C (p.Leu174Pro)
n.284T>C
n.401T>C
c.506T>C (p.Leu169Pro)
c.515T>C (p.Leu172Pro)
c.425T>C (p.Leu142Pro)
c.239T>C (p.Leu80Pro)
c.20T>C (p.Leu7Pro)
11g.67610412T>GCA381536562NDUFV1c.542T>G (p.Leu181Arg)
c.521T>G (p.Leu174Arg)
n.284T>G
n.401T>G
c.506T>G (p.Leu169Arg)
c.515T>G (p.Leu172Arg)
c.425T>G (p.Leu142Arg)
c.239T>G (p.Leu80Arg)
c.20T>G (p.Leu7Arg)
11g.67610413G>ACA475412228NDUFV1c.543G>A (p.Leu181=)
c.522G>A (p.Leu174=)
n.285G>A
n.402G>A
c.507G>A (p.Leu169=)
c.516G>A (p.Leu172=)
c.426G>A (p.Leu142=)
c.240G>A (p.Leu80=)
c.21G>A (p.Leu7=)
 ClinVar
11g.67610413G>CCA6143209NDUFV1c.543G>C (p.Leu181=)
c.522G>C (p.Leu174=)
n.285G>C
n.402G>C
c.507G>C (p.Leu169=)
c.516G>C (p.Leu172=)
c.426G>C (p.Leu142=)
c.240G>C (p.Leu80=)
c.21G>C (p.Leu7=)
 dbSNP ExAC gnomAD v2
11g.67610413G=CA1980189784NDUFV1c.543G= (p.Leu181=)
c.522G= (p.Leu174=)
n.285G=
n.402G=
c.507G= (p.Leu169=)
c.516G= (p.Leu172=)
c.426G= (p.Leu142=)
c.240G= (p.Leu80=)
c.21G= (p.Leu7=)
11g.67610413G>TCA475412233NDUFV1c.543G>T (p.Leu181=)
c.522G>T (p.Leu174=)
n.285G>T
n.402G>T
c.507G>T (p.Leu169=)
c.516G>T (p.Leu172=)
c.426G>T (p.Leu142=)
c.240G>T (p.Leu80=)
c.21G>T (p.Leu7=)
11g.67610414A>CCA381536572NDUFV1c.544A>C (p.Ile182Leu)
c.523A>C (p.Ile175Leu)
n.286A>C
n.403A>C
c.508A>C (p.Ile170Leu)
c.517A>C (p.Ile173Leu)
c.427A>C (p.Ile143Leu)
c.241A>C (p.Ile81Leu)
c.22A>C (p.Ile8Leu)
 gnomAD v4
11g.67610414A>GCA381536573NDUFV1c.544A>G (p.Ile182Val)
c.523A>G (p.Ile175Val)
n.286A>G
n.403A>G
c.508A>G (p.Ile170Val)
c.517A>G (p.Ile173Val)
c.427A>G (p.Ile143Val)
c.241A>G (p.Ile81Val)
c.22A>G (p.Ile8Val)
 gnomAD v4
11g.67610414A>TCA381536575NDUFV1c.544A>T (p.Ile182Phe)
c.523A>T (p.Ile175Phe)
n.286A>T
n.403A>T
c.508A>T (p.Ile170Phe)
c.517A>T (p.Ile173Phe)
c.427A>T (p.Ile143Phe)
c.241A>T (p.Ile81Phe)
c.22A>T (p.Ile8Phe)
11g.67610415T>ACA381536580NDUFV1c.545T>A (p.Ile182Asn)
c.524T>A (p.Ile175Asn)
n.287T>A
n.404T>A
c.509T>A (p.Ile170Asn)
c.518T>A (p.Ile173Asn)
c.428T>A (p.Ile143Asn)
c.242T>A (p.Ile81Asn)
c.23T>A (p.Ile8Asn)
11g.67610415T>CCA381536582NDUFV1c.545T>C (p.Ile182Thr)
c.524T>C (p.Ile175Thr)
n.287T>C
n.404T>C
c.509T>C (p.Ile170Thr)
c.518T>C (p.Ile173Thr)
c.428T>C (p.Ile143Thr)
c.242T>C (p.Ile81Thr)
c.23T>C (p.Ile8Thr)
 ClinVar dbSNP
11g.67610415T>GCA381536585NDUFV1c.545T>G (p.Ile182Ser)
c.524T>G (p.Ile175Ser)
n.287T>G
n.404T>G
c.509T>G (p.Ile170Ser)
c.518T>G (p.Ile173Ser)
c.428T>G (p.Ile143Ser)
c.242T>G (p.Ile81Ser)
c.23T>G (p.Ile8Ser)
11g.67610416T>ACA475412246NDUFV1c.546T>A (p.Ile182=)
c.525T>A (p.Ile175=)
n.288T>A
n.405T>A
c.510T>A (p.Ile170=)
c.519T>A (p.Ile173=)
c.429T>A (p.Ile143=)
c.243T>A (p.Ile81=)
c.24T>A (p.Ile8=)
11g.67610416T>CCA475412249NDUFV1c.546T>C (p.Ile182=)
c.525T>C (p.Ile175=)
n.288T>C
n.405T>C
c.510T>C (p.Ile170=)
c.519T>C (p.Ile173=)
c.429T>C (p.Ile143=)
c.243T>C (p.Ile81=)
c.24T>C (p.Ile8=)
 dbSNP
11g.67610416T>GCA381536588NDUFV1c.546T>G (p.Ile182Met)
c.525T>G (p.Ile175Met)
n.288T>G
n.405T>G
c.510T>G (p.Ile170Met)
c.519T>G (p.Ile173Met)
c.429T>G (p.Ile143Met)
c.243T>G (p.Ile81Met)
c.24T>G (p.Ile8Met)
11g.67610416T=CA1980189787NDUFV1c.546T= (p.Ile182=)
c.525T= (p.Ile175=)
n.288T=
n.405T=
c.510T= (p.Ile170=)
c.519T= (p.Ile173=)
c.429T= (p.Ile143=)
c.243T= (p.Ile81=)
c.24T= (p.Ile8=)
11g.67610417G>ACA381536591NDUFV1c.547G>A (p.Gly183Ser)
c.526G>A (p.Gly176Ser)
n.289G>A
n.406G>A
c.511G>A (p.Gly171Ser)
c.520G>A (p.Gly174Ser)
c.430G>A (p.Gly144Ser)
c.244G>A (p.Gly82Ser)
c.25G>A (p.Gly9Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610417G>CCA381536594NDUFV1c.547G>C (p.Gly183Arg)
c.526G>C (p.Gly176Arg)
n.289G>C
n.406G>C
c.511G>C (p.Gly171Arg)
c.520G>C (p.Gly174Arg)
c.430G>C (p.Gly144Arg)
c.244G>C (p.Gly82Arg)
c.25G>C (p.Gly9Arg)
11g.67610417G=CA1980189798NDUFV1c.547G= (p.Gly183=)
c.526G= (p.Gly176=)
n.289G=
n.406G=
c.511G= (p.Gly171=)
c.520G= (p.Gly174=)
c.430G= (p.Gly144=)
c.244G= (p.Gly82=)
c.25G= (p.Gly9=)
11g.67610417G>TCA381536595NDUFV1c.547G>T (p.Gly183Cys)
c.526G>T (p.Gly176Cys)
n.289G>T
n.406G>T
c.511G>T (p.Gly171Cys)
c.520G>T (p.Gly174Cys)
c.430G>T (p.Gly144Cys)
c.244G>T (p.Gly82Cys)
c.25G>T (p.Gly9Cys)
11g.67610417_67610418delCA645571733NDUFV1c.547_548del (p.Gly183GlnfsTer9)
c.526_527del (p.Gly176GlnfsTer9)
n.289_290del
n.406_407del
c.511_512del (p.Gly171GlnfsTer?)
c.520_521del (p.Gly174GlnfsTer9)
c.430_431del (p.Gly144=)
c.244_245del (p.Gly82GlnfsTer9)
c.526_527del (p.Gly176GlnfsTer?)
c.25_26del (p.Gly9GlnfsTer9)
 COSMIC
11g.67610418G>ACA381536598NDUFV1c.548G>A (p.Gly183Asp)
c.527G>A (p.Gly176Asp)
n.290G>A
n.407G>A
c.512G>A (p.Gly171Asp)
c.521G>A (p.Gly174Asp)
c.431G>A (p.Gly144Asp)
c.245G>A (p.Gly82Asp)
c.26G>A (p.Gly9Asp)
11g.67610418G>CCA381536601NDUFV1c.548G>C (p.Gly183Ala)
c.527G>C (p.Gly176Ala)
n.290G>C
n.407G>C
c.512G>C (p.Gly171Ala)
c.521G>C (p.Gly174Ala)
c.431G>C (p.Gly144Ala)
c.245G>C (p.Gly82Ala)
c.26G>C (p.Gly9Ala)
11g.67610418G>TCA381536604NDUFV1c.548G>T (p.Gly183Val)
c.527G>T (p.Gly176Val)
n.290G>T
n.407G>T
c.512G>T (p.Gly171Val)
c.521G>T (p.Gly174Val)
c.431G>T (p.Gly144Val)
c.245G>T (p.Gly82Val)
c.26G>T (p.Gly9Val)
11g.67610419C>ACA224180110NDUFV1c.549C>A (p.Gly183=)
c.528C>A (p.Gly176=)
n.291C>A
n.408C>A
c.513C>A (p.Gly171=)
c.522C>A (p.Gly174=)
c.432C>A (p.Gly144=)
c.246C>A (p.Gly82=)
c.27C>A (p.Gly9=)
 ClinVar dbSNP gnomAD v4
11g.67610419C=CA1980189813NDUFV1c.549C= (p.Gly183=)
c.528C= (p.Gly176=)
n.291C=
n.408C=
c.513C= (p.Gly171=)
c.522C= (p.Gly174=)
c.432C= (p.Gly144=)
c.246C= (p.Gly82=)
c.27C= (p.Gly9=)
11g.67610419C>GCA292517NDUFV1c.549C>G (p.Gly183=)
c.528C>G (p.Gly176=)
n.291C>G
n.408C>G
c.513C>G (p.Gly171=)
c.522C>G (p.Gly174=)
c.432C>G (p.Gly144=)
c.246C>G (p.Gly82=)
c.27C>G (p.Gly9=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610419C>TCA475412267NDUFV1c.549C>T (p.Gly183=)
c.528C>T (p.Gly176=)
n.291C>T
n.408C>T
c.513C>T (p.Gly171=)
c.522C>T (p.Gly174=)
c.432C>T (p.Gly144=)
c.246C>T (p.Gly82=)
c.27C>T (p.Gly9=)
 gnomAD v4
11g.67610420A>CCA381536611NDUFV1c.550A>C (p.Lys184Gln)
c.529A>C (p.Lys177Gln)
n.292A>C
n.409A>C
c.514A>C (p.Lys172Gln)
c.523A>C (p.Lys175Gln)
c.433A>C
c.247A>C (p.Lys83Gln)
c.28A>C (p.Lys10Gln)
11g.67610420A>GCA381536613NDUFV1c.550A>G (p.Lys184Glu)
c.529A>G (p.Lys177Glu)
n.292A>G
n.409A>G
c.514A>G (p.Lys172Glu)
c.523A>G (p.Lys175Glu)
c.433A>G
c.247A>G (p.Lys83Glu)
c.28A>G (p.Lys10Glu)
11g.67610420A>TCA381536616NDUFV1c.550A>T (p.Lys184Ter)
c.529A>T (p.Lys177Ter)
n.292A>T
n.409A>T
c.514A>T (p.Lys172Ter)
c.523A>T (p.Lys175Ter)
c.433A>T
c.247A>T (p.Lys83Ter)
c.28A>T (p.Lys10Ter)
11g.67610421A>CCA381536621NDUFV1c.551A>C (p.Lys184Thr)
c.530A>C (p.Lys177Thr)
n.293A>C
n.410A>C
c.515A>C (p.Lys172Thr)
c.524A>C (p.Lys175Thr)
c.248A>C (p.Lys83Thr)
c.29A>C (p.Lys10Thr)
11g.67610421A>GCA381536624NDUFV1c.551A>G (p.Lys184Arg)
c.530A>G (p.Lys177Arg)
n.293A>G
n.410A>G
c.515A>G (p.Lys172Arg)
c.524A>G (p.Lys175Arg)
c.248A>G (p.Lys83Arg)
c.29A>G (p.Lys10Arg)
11g.67610421A>TCA381536627NDUFV1c.551A>T (p.Lys184Met)
c.530A>T (p.Lys177Met)
n.293A>T
n.410A>T
c.515A>T (p.Lys172Met)
c.524A>T (p.Lys175Met)
c.248A>T (p.Lys83Met)
c.29A>T (p.Lys10Met)
11g.67610422G>ACA475412280NDUFV1c.552G>A (p.Lys184=)
c.531G>A (p.Lys177=)
n.294G>A
n.411G>A
c.516G>A (p.Lys172=)
c.525G>A (p.Lys175=)
c.249G>A (p.Lys83=)
c.30G>A (p.Lys10=)
11g.67610422G>CCA381536630NDUFV1c.552G>C (p.Lys184Asn)
c.531G>C (p.Lys177Asn)
n.294G>C
n.411G>C
c.516G>C (p.Lys172Asn)
c.525G>C (p.Lys175Asn)
c.249G>C (p.Lys83Asn)
c.30G>C (p.Lys10Asn)
 COSMIC
11g.67610422G>TCA381536633NDUFV1c.552G>T (p.Lys184Asn)
c.531G>T (p.Lys177Asn)
n.294G>T
n.411G>T
c.516G>T (p.Lys172Asn)
c.525G>T (p.Lys175Asn)
c.249G>T (p.Lys83Asn)
c.30G>T (p.Lys10Asn)
11g.67610423A>CCA381536636NDUFV1c.553A>C (p.Asn185His)
c.532A>C (p.Asn178His)
n.295A>C
n.412A>C
c.517A>C (p.Asn173His)
c.526A>C (p.Asn176His)
c.250A>C (p.Asn84His)
c.31A>C (p.Asn11His)
11g.67610423A>GCA381536638NDUFV1c.553A>G (p.Asn185Asp)
c.532A>G (p.Asn178Asp)
n.295A>G
n.412A>G
c.517A>G (p.Asn173Asp)
c.526A>G (p.Asn176Asp)
c.250A>G (p.Asn84Asp)
c.31A>G (p.Asn11Asp)
11g.67610423A>TCA381536640NDUFV1c.553A>T (p.Asn185Tyr)
c.532A>T (p.Asn178Tyr)
n.295A>T
n.412A>T
c.517A>T (p.Asn173Tyr)
c.526A>T (p.Asn176Tyr)
c.250A>T (p.Asn84Tyr)
c.31A>T (p.Asn11Tyr)
11g.67610424A>CCA381536645NDUFV1c.554A>C (p.Asn185Thr)
c.533A>C (p.Asn178Thr)
n.296A>C
n.413A>C
c.518A>C (p.Asn173Thr)
c.527A>C (p.Asn176Thr)
c.251A>C (p.Asn84Thr)
c.32A>C (p.Asn11Thr)
11g.67610424A>GCA381536647NDUFV1c.554A>G (p.Asn185Ser)
c.533A>G (p.Asn178Ser)
n.296A>G
n.413A>G
c.518A>G (p.Asn173Ser)
c.527A>G (p.Asn176Ser)
c.251A>G (p.Asn84Ser)
c.32A>G (p.Asn11Ser)
11g.67610424A>TCA381536651NDUFV1c.554A>T (p.Asn185Ile)
c.533A>T (p.Asn178Ile)
n.296A>T
n.413A>T
c.518A>T (p.Asn173Ile)
c.527A>T (p.Asn176Ile)
c.251A>T (p.Asn84Ile)
c.32A>T (p.Asn11Ile)
11g.67610425T>ACA381536652NDUFV1c.555T>A (p.Asn185Lys)
c.534T>A (p.Asn178Lys)
n.297T>A
n.414T>A
c.519T>A (p.Asn173Lys)
c.528T>A (p.Asn176Lys)
c.252T>A (p.Asn84Lys)
c.33T>A (p.Asn11Lys)
11g.67610425T>CCA475412296NDUFV1c.555T>C (p.Asn185=)
c.534T>C (p.Asn178=)
n.297T>C
n.414T>C
c.519T>C (p.Asn173=)
c.528T>C (p.Asn176=)
c.252T>C (p.Asn84=)
c.33T>C (p.Asn11=)
11g.67610425T>GCA381536655NDUFV1c.555T>G (p.Asn185Lys)
c.534T>G (p.Asn178Lys)
n.297T>G
n.414T>G
c.519T>G (p.Asn173Lys)
c.528T>G (p.Asn176Lys)
c.252T>G (p.Asn84Lys)
c.33T>G (p.Asn11Lys)
11g.67610426G>ACA381536658NDUFV1c.556G>A (p.Ala186Thr)
c.535G>A (p.Ala179Thr)
n.298G>A
n.415G>A
c.520G>A (p.Ala174Thr)
c.529G>A (p.Ala177Thr)
c.253G>A (p.Ala85Thr)
c.535G>A
c.34G>A (p.Ala12Thr)
 gnomAD v4
11g.67610426G>CCA381536664NDUFV1c.556G>C (p.Ala186Pro)
c.535G>C (p.Ala179Pro)
n.298G>C
n.415G>C
c.520G>C (p.Ala174Pro)
c.529G>C (p.Ala177Pro)
c.253G>C (p.Ala85Pro)
c.535G>C
c.34G>C (p.Ala12Pro)
11g.67610426G>TCA381536661NDUFV1c.556G>T (p.Ala186Ser)
c.535G>T (p.Ala179Ser)
n.298G>T
n.415G>T
c.520G>T (p.Ala174Ser)
c.529G>T (p.Ala177Ser)
c.253G>T (p.Ala85Ser)
c.535G>T
c.34G>T (p.Ala12Ser)
11g.67610427C>ACA381536667NDUFV1c.557C>A (p.Ala186Asp)
c.536C>A (p.Ala179Asp)
n.299C>A
n.416C>A
c.521C>A (p.Ala174Asp)
c.530C>A (p.Ala177Asp)
c.254C>A (p.Ala85Asp)
c.35C>A (p.Ala12Asp)
11g.67610427C>GCA381536674NDUFV1c.557C>G (p.Ala186Gly)
c.536C>G (p.Ala179Gly)
n.299C>G
n.416C>G
c.521C>G (p.Ala174Gly)
c.530C>G (p.Ala177Gly)
c.254C>G (p.Ala85Gly)
c.35C>G (p.Ala12Gly)
 gnomAD v4
11g.67610427C>TCA381536669NDUFV1c.557C>T (p.Ala186Val)
c.536C>T (p.Ala179Val)
n.299C>T
n.416C>T
c.521C>T (p.Ala174Val)
c.530C>T (p.Ala177Val)
c.254C>T (p.Ala85Val)
c.35C>T (p.Ala12Val)
 gnomAD v4
11g.67610428T>ACA475412309NDUFV1c.558T>A (p.Ala186=)
c.537T>A (p.Ala179=)
n.300T>A
n.417T>A
c.522T>A (p.Ala174=)
c.531T>A (p.Ala177=)
c.255T>A (p.Ala85=)
c.36T>A (p.Ala12=)
11g.67610428T>CCA475412311NDUFV1c.558T>C (p.Ala186=)
c.537T>C (p.Ala179=)
n.300T>C
n.417T>C
c.522T>C (p.Ala174=)
c.531T>C (p.Ala177=)
c.255T>C (p.Ala85=)
c.36T>C (p.Ala12=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610428T>GCA475412313NDUFV1c.558T>G (p.Ala186=)
c.537T>G (p.Ala179=)
n.300T>G
n.417T>G
c.522T>G (p.Ala174=)
c.531T>G (p.Ala177=)
c.255T>G (p.Ala85=)
c.36T>G (p.Ala12=)
11g.67610428T=CA1980189816NDUFV1c.558T= (p.Ala186=)
c.537T= (p.Ala179=)
n.300T=
n.417T=
c.522T= (p.Ala174=)
c.531T= (p.Ala177=)
c.255T= (p.Ala85=)
c.36T= (p.Ala12=)
11g.67610429T>ACA381536676NDUFV1c.559T>A (p.Cys187Ser)
c.538T>A (p.Cys180Ser)
n.301T>A
n.418T>A
c.523T>A (p.Cys175Ser)
c.532T>A (p.Cys178Ser)
c.256T>A (p.Cys86Ser)
c.37T>A (p.Cys13Ser)
11g.67610429T>CCA381536679NDUFV1c.559T>C (p.Cys187Arg)
c.538T>C (p.Cys180Arg)
n.301T>C
n.418T>C
c.523T>C (p.Cys175Arg)
c.532T>C (p.Cys178Arg)
c.256T>C (p.Cys86Arg)
c.37T>C (p.Cys13Arg)
 gnomAD v4
11g.67610429T>GCA381536681NDUFV1c.559T>G (p.Cys187Gly)
c.538T>G (p.Cys180Gly)
n.301T>G
n.418T>G
c.523T>G (p.Cys175Gly)
c.532T>G (p.Cys178Gly)
c.256T>G (p.Cys86Gly)
c.37T>G (p.Cys13Gly)
11g.67610430G>ACA381536685NDUFV1c.560G>A (p.Cys187Tyr)
c.539G>A (p.Cys180Tyr)
n.302G>A
n.419G>A
c.524G>A (p.Cys175Tyr)
c.533G>A (p.Cys178Tyr)
c.257G>A (p.Cys86Tyr)
c.38G>A (p.Cys13Tyr)
11g.67610430G>CCA6143210NDUFV1c.560G>C (p.Cys187Ser)
c.539G>C (p.Cys180Ser)
n.302G>C
n.419G>C
c.524G>C (p.Cys175Ser)
c.533G>C (p.Cys178Ser)
c.257G>C (p.Cys86Ser)
c.38G>C (p.Cys13Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67610430G=CA1980189822NDUFV1c.560G= (p.Cys187=)
c.539G= (p.Cys180=)
n.302G=
n.419G=
c.524G= (p.Cys175=)
c.533G= (p.Cys178=)
c.257G= (p.Cys86=)
c.38G= (p.Cys13=)
11g.67610430G>TCA381536688NDUFV1c.560G>T (p.Cys187Phe)
c.539G>T (p.Cys180Phe)
n.302G>T
n.419G>T
c.524G>T (p.Cys175Phe)
c.533G>T (p.Cys178Phe)
c.257G>T (p.Cys86Phe)
c.38G>T (p.Cys13Phe)
11g.67610431T>ACA381536690NDUFV1c.561T>A (p.Cys187Ter)
c.540T>A (p.Cys180Ter)
n.303T>A
n.420T>A
c.525T>A (p.Cys175Ter)
c.534T>A (p.Cys178Ter)
c.258T>A (p.Cys86Ter)
c.39T>A (p.Cys13Ter)
11g.67610431T>CCA6143211NDUFV1c.561T>C (p.Cys187=)
c.540T>C (p.Cys180=)
n.303T>C
n.420T>C
c.525T>C (p.Cys175=)
c.534T>C (p.Cys178=)
c.258T>C (p.Cys86=)
c.39T>C (p.Cys13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610431T>GCA381536691NDUFV1c.561T>G (p.Cys187Trp)
c.540T>G (p.Cys180Trp)
n.303T>G
n.420T>G
c.525T>G (p.Cys175Trp)
c.534T>G (p.Cys178Trp)
c.258T>G (p.Cys86Trp)
c.39T>G (p.Cys13Trp)
11g.67610431T=CA1980189834NDUFV1c.561T= (p.Cys187=)
c.540T= (p.Cys180=)
n.303T=
n.420T=
c.525T= (p.Cys175=)
c.534T= (p.Cys178=)
c.258T= (p.Cys86=)
c.39T= (p.Cys13=)
11g.67610432G>ACA381536695NDUFV1c.562G>A (p.Gly188Ser)
c.541G>A (p.Gly181Ser)
n.304G>A
n.421G>A
c.526G>A (p.Gly176Ser)
c.535G>A (p.Gly179Ser)
c.259G>A (p.Gly87Ser)
c.40G>A (p.Gly14Ser)
11g.67610432G>CCA381536696NDUFV1c.562G>C (p.Gly188Arg)
c.541G>C (p.Gly181Arg)
n.304G>C
n.421G>C
c.526G>C (p.Gly176Arg)
c.535G>C (p.Gly179Arg)
c.259G>C (p.Gly87Arg)
c.40G>C (p.Gly14Arg)
11g.67610432G>TCA381536698NDUFV1c.562G>T (p.Gly188Cys)
c.541G>T (p.Gly181Cys)
n.304G>T
n.421G>T
c.526G>T (p.Gly176Cys)
c.535G>T (p.Gly179Cys)
c.259G>T (p.Gly87Cys)
c.40G>T (p.Gly14Cys)
11g.67610433G>ACA6143212NDUFV1c.563G>A (p.Gly188Asp)
c.542G>A (p.Gly181Asp)
n.305G>A
n.422G>A
c.527G>A (p.Gly176Asp)
c.536G>A (p.Gly179Asp)
c.260G>A (p.Gly87Asp)
c.41G>A (p.Gly14Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610433G>CCA381536703NDUFV1c.563G>C (p.Gly188Ala)
c.542G>C (p.Gly181Ala)
n.305G>C
n.422G>C
c.527G>C (p.Gly176Ala)
c.536G>C (p.Gly179Ala)
c.260G>C (p.Gly87Ala)
c.41G>C (p.Gly14Ala)
11g.67610433G=CA1980189843NDUFV1c.563G= (p.Gly188=)
c.542G= (p.Gly181=)
n.305G=
n.422G=
c.527G= (p.Gly176=)
c.536G= (p.Gly179=)
c.260G= (p.Gly87=)
c.41G= (p.Gly14=)
11g.67610433G>TCA381536701NDUFV1c.563G>T (p.Gly188Val)
c.542G>T (p.Gly181Val)
n.305G>T
n.422G>T
c.527G>T (p.Gly176Val)
c.536G>T (p.Gly179Val)
c.260G>T (p.Gly87Val)
c.41G>T (p.Gly14Val)
11g.67610434C>ACA475412340NDUFV1c.564C>A (p.Gly188=)
c.543C>A (p.Gly181=)
n.306C>A
n.423C>A
c.528C>A (p.Gly176=)
c.537C>A (p.Gly179=)
c.261C>A (p.Gly87=)
c.42C>A (p.Gly14=)
11g.67610434C>GCA475412342NDUFV1c.564C>G (p.Gly188=)
c.543C>G (p.Gly181=)
n.306C>G
n.423C>G
c.528C>G (p.Gly176=)
c.537C>G (p.Gly179=)
c.261C>G (p.Gly87=)
c.42C>G (p.Gly14=)
11g.67610434C>TCA475412344NDUFV1c.564C>T (p.Gly188=)
c.543C>T (p.Gly181=)
n.306C>T
n.423C>T
c.528C>T (p.Gly176=)
c.537C>T (p.Gly179=)
c.261C>T (p.Gly87=)
c.42C>T (p.Gly14=)
11g.67610435T>ACA381536705NDUFV1c.565T>A (p.Ser189Thr)
c.544T>A (p.Ser182Thr)
n.307T>A
n.424T>A
c.529T>A (p.Ser177Thr)
c.538T>A (p.Ser180Thr)
c.262T>A (p.Ser88Thr)
c.43T>A (p.Ser15Thr)
11g.67610435T>CCA224180127NDUFV1c.565T>C (p.Ser189Pro)
c.544T>C (p.Ser182Pro)
n.307T>C
n.424T>C
c.529T>C (p.Ser177Pro)
c.538T>C (p.Ser180Pro)
c.262T>C (p.Ser88Pro)
c.43T>C (p.Ser15Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67610435T>GCA381536707NDUFV1c.565T>G (p.Ser189Ala)
c.544T>G (p.Ser182Ala)
n.307T>G
n.424T>G
c.529T>G (p.Ser177Ala)
c.538T>G (p.Ser180Ala)
c.262T>G (p.Ser88Ala)
c.43T>G (p.Ser15Ala)
11g.67610435T=CA1980189850NDUFV1c.565T= (p.Ser189=)
c.544T= (p.Ser182=)
n.307T=
n.424T=
c.529T= (p.Ser177=)
c.538T= (p.Ser180=)
c.262T= (p.Ser88=)
c.43T= (p.Ser15=)
11g.67610436C>ACA381536708NDUFV1c.566C>A (p.Ser189Tyr)
c.545C>A (p.Ser182Tyr)
n.308C>A
n.425C>A
c.530C>A (p.Ser177Tyr)
c.539C>A (p.Ser180Tyr)
c.263C>A (p.Ser88Tyr)
c.44C>A (p.Ser15Tyr)
11g.67610436C=CA1980189859NDUFV1c.566C= (p.Ser189=)
c.545C= (p.Ser182=)
n.308C=
n.425C=
c.530C= (p.Ser177=)
c.539C= (p.Ser180=)
c.263C= (p.Ser88=)
c.44C= (p.Ser15=)
11g.67610436C>GCA6143213NDUFV1c.566C>G (p.Ser189Cys)
c.545C>G (p.Ser182Cys)
n.308C>G
n.425C>G
c.530C>G (p.Ser177Cys)
c.539C>G (p.Ser180Cys)
c.263C>G (p.Ser88Cys)
c.44C>G (p.Ser15Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610436C>TCA6143214NDUFV1c.566C>T (p.Ser189Phe)
c.545C>T (p.Ser182Phe)
n.308C>T
n.425C>T
c.530C>T (p.Ser177Phe)
c.539C>T (p.Ser180Phe)
c.263C>T (p.Ser88Phe)
c.44C>T (p.Ser15Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610437T>ACA475412359NDUFV1c.567T>A (p.Ser189=)
c.546T>A (p.Ser182=)
n.309T>A
n.426T>A
c.531T>A (p.Ser177=)
c.540T>A (p.Ser180=)
c.264T>A (p.Ser88=)
c.45T>A (p.Ser15=)
11g.67610437T>CCA475412361NDUFV1c.567T>C (p.Ser189=)
c.546T>C (p.Ser182=)
n.309T>C
n.426T>C
c.531T>C (p.Ser177=)
c.540T>C (p.Ser180=)
c.264T>C (p.Ser88=)
c.45T>C (p.Ser15=)
 ClinVar dbSNP
11g.67610437T>GCA475412362NDUFV1c.567T>G (p.Ser189=)
c.546T>G (p.Ser182=)
n.309T>G
n.426T>G
c.531T>G (p.Ser177=)
c.540T>G (p.Ser180=)
c.264T>G (p.Ser88=)
c.45T>G (p.Ser15=)
11g.67610438G>ACA381536712NDUFV1c.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
11g.67610438G>CCA381536714NDUFV1c.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)
11g.67610438G>TCA381536716NDUFV1c.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)
11g.67610439G>ACA381536720NDUFV1c.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)
11g.67610439G>CCA381536723NDUFV1c.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)
11g.67610439G>TCA381536718NDUFV1c.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)
11g.67610440C>ACA475412372NDUFV1c.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=)
11g.67610440C>GCA475412374NDUFV1c.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=)
11g.67610440C>TCA475412375NDUFV1c.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=)
11g.67610441T>ACA381536725NDUFV1c.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)
11g.67610441T>CCA381536727NDUFV1c.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)
11g.67610441T>GCA381536728NDUFV1c.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)
11g.67610442A=CA1980189864NDUFV1c.572A= (p.Tyr191=)
c.551A= (p.Tyr184=)
n.314A=
n.431A=
c.545A= (p.Tyr182=)
c.269A= (p.Tyr90=)
c.50A= (p.Tyr17=)
11g.67610442A>CCA381536731NDUFV1c.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)
11g.67610442A>GCA381536733NDUFV1c.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
11g.67610442A>TCA381536734NDUFV1c.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)
11g.67610444_67610446delCA2614647462NDUFV1c.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
11g.67610443T>ACA381536736NDUFV1c.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)
11g.67610443T>CCA475412392NDUFV1c.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
11g.67610443T>GCA381536738NDUFV1c.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)
11g.67610443T=CA1980189869NDUFV1c.573T= (p.Tyr191=)
c.552T= (p.Tyr184=)
n.315T=
n.432T=
c.546T= (p.Tyr182=)
c.270T= (p.Tyr90=)
c.51T= (p.Tyr17=)
11g.67610444G>ACA381536740NDUFV1c.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)
11g.67610444G>CCA381536742NDUFV1c.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)
11g.67610444G>TCA381536743NDUFV1c.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)
11g.67610445A>CCA381536746NDUFV1c.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)
11g.67610445A>GCA381536747NDUFV1c.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)
11g.67610445A>TCA381536745NDUFV1c.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)
11g.67610446T>ACA381536748NDUFV1c.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)
11g.67610446T>CCA6143215NDUFV1c.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
11g.67610446T>GCA381536749NDUFV1c.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)
11g.67610446T=CA1980189874NDUFV1c.576T= (p.Asp192=)
c.555T= (p.Asp185=)
n.318T=
n.435T=
c.549T= (p.Asp183=)
c.273T= (p.Asp91=)
c.54T= (p.Asp18=)
11g.67610447T>ACA381536751NDUFV1c.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)
11g.67610447T>CCA381536753NDUFV1c.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)
11g.67610447T>GCA381536755NDUFV1c.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)
11g.67610448T>ACA381536761NDUFV1c.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)
11g.67610448T>CCA381536774NDUFV1c.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
11g.67610448T>GCA381536763NDUFV1c.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)
11g.67610448T=CA1980189875NDUFV1c.578T= (p.Phe193=)
c.557T= (p.Phe186=)
n.320T=
n.437T=
c.551T= (p.Phe184=)
c.275T= (p.Phe92=)
c.56T= (p.Phe19=)
11g.67610449T>ACA381536775NDUFV1c.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)
11g.67610449T>CCA475412421NDUFV1c.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=)
11g.67610449T>GCA381536776NDUFV1c.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)
11g.67610450G>ACA381536777NDUFV1c.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)
11g.67610450G>CCA381536779NDUFV1c.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)
11g.67610450G=CA1980189877NDUFV1c.580G= (p.Asp194=)
c.559G= (p.Asp187=)
n.322G=
n.439G=
c.553G= (p.Asp185=)
c.277G= (p.Asp93=)
c.58G= (p.Asp20=)
11g.67610450G>TCA381536780NDUFV1c.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
11g.67610451A>CCA381536784NDUFV1c.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)
11g.67610451A>GCA381536783NDUFV1c.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)
11g.67610451A>TCA381536782NDUFV1c.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)
11g.67610452C>ACA381536786NDUFV1c.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)
11g.67610452C=CA1980189882NDUFV1c.582C= (p.Asp194=)
c.561C= (p.Asp187=)
n.324C=
n.441C=
c.555C= (p.Asp185=)
c.279C= (p.Asp93=)
c.60C= (p.Asp20=)
11g.67610452C>GCA381536785NDUFV1c.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)
11g.67610452C>TCA6143216NDUFV1c.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
11g.67610453G>ACA6143217NDUFV1c.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
11g.67610453G>CCA381536792NDUFV1c.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)
11g.67610453G=CA1980189888NDUFV1c.583G= (p.Val195=)
c.562G= (p.Val188=)
n.325G=
n.442G=
c.556G= (p.Val186=)
c.280G= (p.Val94=)
c.61G= (p.Val21=)
11g.67610453G>TCA381536795NDUFV1c.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
11g.67610454T>ACA381536799NDUFV1c.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
11g.67610454T>CCA224180164NDUFV1c.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
11g.67610454T>GCA381536802NDUFV1c.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)
11g.67610454T=CA1980189895NDUFV1c.584T= (p.Val195=)
c.563T= (p.Val188=)
n.326T=
n.443T=
c.557T= (p.Val186=)
c.281T= (p.Val94=)
c.62T= (p.Val21=)
11g.67610455G>ACA6143218NDUFV1c.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
11g.67610455G>CCA475412453NDUFV1c.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
11g.67610455G=CA1980189904NDUFV1c.585G= (p.Val195=)
c.564G= (p.Val188=)
n.327G=
n.444G=
c.558G= (p.Val186=)
c.282G= (p.Val94=)
c.63G= (p.Val21=)
11g.67610455G>TCA475412455NDUFV1c.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=)
11g.67610456T>ACA381536805NDUFV1c.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)
11g.67610456T>CCA381536807NDUFV1c.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)
11g.67610456T>GCA381536809NDUFV1c.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)
11g.67610457T>ACA381536812NDUFV1c.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)
11g.67610457T>CCA381536813NDUFV1c.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
11g.67610457T>GCA381536814NDUFV1c.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
11g.67610457T=CA1980189908NDUFV1c.587T= (p.Phe196=)
c.566T= (p.Phe189=)
n.329T=
n.446T=
c.560T= (p.Phe187=)
c.284T= (p.Phe95=)
c.65T= (p.Phe22=)
11g.67610458T>ACA381536817NDUFV1c.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)
11g.67610458T>CCA475412474NDUFV1c.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
11g.67610458T>GCA381536816NDUFV1c.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)
11g.67610458T=CA1980189911NDUFV1c.588T= (p.Phe196=)
c.567T= (p.Phe189=)
n.330T=
n.447T=
c.561T= (p.Phe187=)
c.285T= (p.Phe95=)
c.66T= (p.Phe22=)
11g.67610459G>ACA381536819NDUFV1c.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
11g.67610459G>CCA381536822NDUFV1c.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)
11g.67610459G=CA1980189912NDUFV1c.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=)
11g.67610459G>TCA381536824NDUFV1c.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)
11g.67610460T>ACA381536825NDUFV1c.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)
11g.67610460T>CCA224180180NDUFV1c.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
11g.67610460T>GCA381536835NDUFV1c.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)
11g.67610460T=CA1980189916NDUFV1c.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=)
11g.67610461G>ACA475412492NDUFV1c.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
11g.67610461G>CCA475412489NDUFV1c.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=)
11g.67610461G=CA1980189918NDUFV1c.591G= (p.Val197=)
c.570G= (p.Val190=)
n.333G=
n.450G=
c.564G= (p.Val188=)
c.288G= (p.Val96=)
c.69G= (p.Val23=)
11g.67610461G>TCA475412487NDUFV1c.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
11g.67610462G>ACA6143219NDUFV1c.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
11g.67610462G>CCA6143220NDUFV1c.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
11g.67610462G=CA1980189920NDUFV1c.592G= (p.Val198=)
c.571G= (p.Val191=)
n.334G=
n.451G=
c.565G= (p.Val189=)
c.289G= (p.Val97=)
c.70G= (p.Val24=)
11g.67610462G>TCA381536844NDUFV1c.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)
11g.67610463T>ACA381536848NDUFV1c.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)
11g.67610463T>CCA381536851NDUFV1c.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)
11g.67610463T>GCA381536854NDUFV1c.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)
11g.67610464G>ACA475412508NDUFV1c.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=)
11g.67610464G>CCA475412513NDUFV1c.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=)
11g.67610464G>TCA475412510NDUFV1c.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
11g.67610465C>ACA381536861NDUFV1c.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
11g.67610465C=CA1980189933NDUFV1c.595C= (p.Arg199=)
c.574C= (p.Arg192=)
n.337C=
n.454C=
c.568C= (p.Arg190=)
c.292C= (p.Arg98=)
c.73C= (p.Arg25=)
11g.67610465C>GCA381536858NDUFV1c.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)
11g.67610465C>TCA6143221NDUFV1c.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
11g.67610466G>ACA6143222NDUFV1c.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
11g.67610466G>CCA224180198NDUFV1c.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
11g.67610466G=CA1980189939NDUFV1c.596G= (p.Arg199=)
c.575G= (p.Arg192=)
n.338G=
n.455G=
c.569G= (p.Arg190=)
c.293G= (p.Arg98=)
c.74G= (p.Arg25=)
11g.67610466G>TCA381536872NDUFV1c.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)
11g.67610467C>ACA475412528NDUFV1c.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
11g.67610467C=CA1980189949NDUFV1c.597C= (p.Arg199=)
c.576C= (p.Arg192=)
n.339C=
n.456C=
c.570C= (p.Arg190=)
c.294C= (p.Arg98=)
c.75C= (p.Arg25=)
11g.67610467C>GCA475412530NDUFV1c.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=)
11g.67610467C>TCA6143223NDUFV1c.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
11g.67610468G>ACA6143224NDUFV1c.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
11g.67610468G>CCA381536873NDUFV1c.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)
11g.67610468G=CA1980189956NDUFV1c.598G= (p.Gly200=)
c.577G= (p.Gly193=)
n.340G=
n.457G=
c.571G= (p.Gly191=)
c.295G= (p.Gly99=)
c.76G= (p.Gly26=)
11g.67610468G>TCA381536875NDUFV1c.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)
11g.67610471dupCA939065813NDUFV1c.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
11g.67610469G>ACA381536878NDUFV1c.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)
11g.67610469G>CCA381536880NDUFV1c.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)
11g.67610469G>TCA381536881NDUFV1c.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)
11g.67610470G>ACA475412547NDUFV1c.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
11g.67610470G>CCA475412549NDUFV1c.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
11g.67610470G>TCA475412552NDUFV1c.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=)
11g.67610471G>ACA381536884NDUFV1c.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
11g.67610471G>CCA381536889NDUFV1c.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)
11g.67610471G>TCA381536895NDUFV1c.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)
11g.67610472C>ACA381536907NDUFV1c.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)
11g.67610472C>GCA381536897NDUFV1c.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)
11g.67610472C>TCA381536906NDUFV1c.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)
11g.67610473T>ACA475412563NDUFV1c.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=)
11g.67610473T>CCA475412565NDUFV1c.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=)
11g.67610473T>GCA475412567NDUFV1c.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=)
11g.67610473_67610474insTGCCCTGCTTGCCCTCAATCA2792509342NDUFV1c.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)
11g.67610473_67610474delinsTGCA1980189960NDUFV1c.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=)
11g.67610474G>ACA381536909NDUFV1c.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)
11g.67610474G>CCA381536912NDUFV1c.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)
11g.67610474G>TCA381536914NDUFV1c.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)
11g.67610477delCA918903883NDUFV1c.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
11g.67610476_67610477delCA2574897640NDUFV1c.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)
11g.67610475G>ACA381536916NDUFV1c.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)
11g.67610475G>CCA381536917NDUFV1c.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)
11g.67610475G>TCA381536918NDUFV1c.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
11g.67610475_67610476insCCCTGCTTCA2792509346NDUFV1c.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)
11g.67610475_67610476insACTCGATGAGCGCTGTCTCCTCTCCACAGATGTACA2792509345NDUFV1c.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)
11g.67610476G>ACA10631385NDUFV1c.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
11g.67610476G>CCA475412584NDUFV1c.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=)
11g.67610476G=CA1980189968NDUFV1c.606G= (p.Gly202=)
c.585G= (p.Gly195=)
n.348G=
n.465G=
c.579G= (p.Gly193=)
c.303G= (p.Gly101=)
c.84G= (p.Gly28=)
11g.67610476G>TCA475412586NDUFV1c.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=)
11g.67610477G>ACA381536928NDUFV1c.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
11g.67610477G>CCA381536931NDUFV1c.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)
11g.67610477G>TCA381536934NDUFV1c.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)
11g.67610478C>ACA381536939NDUFV1c.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)
11g.67610478C=CA1980189971NDUFV1c.608C= (p.Ala203=)
c.587C= (p.Ala196=)
n.350C=
n.467C=
c.581C= (p.Ala194=)
c.305C= (p.Ala102=)
c.86C= (p.Ala29=)
11g.67610478C>GCA381536940NDUFV1c.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)
11g.67610478C>TCA381536944NDUFV1c.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
11g.67610479_67610480insCCAGCCCCA2792509347NDUFV1c.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)
11g.67610479delCA2614647490NDUFV1c.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
11g.67610479C>ACA475412599NDUFV1c.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=)
11g.67610479C>GCA475412605NDUFV1c.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
11g.67610479C>TCA475412601NDUFV1c.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=)
11g.67610480delCA2614647492NDUFV1c.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
11g.67610480T>ACA381536949NDUFV1c.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)
11g.67610480T>CCA381536953NDUFV1c.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
11g.67610480T>GCA381536947NDUFV1c.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)
11g.67610481A=CA1980189973NDUFV1c.611A= (p.Tyr204=)
c.590A= (p.Tyr197=)
n.353A=
n.470A=
c.584A= (p.Tyr195=)
c.308A= (p.Tyr103=)
c.89A= (p.Tyr30=)
11g.67610481A>CCA381536957NDUFV1c.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)
11g.67610481A>GCA381536960NDUFV1c.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
11g.67610481A>TCA381536959NDUFV1c.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)
11g.67610482C>ACA381536962NDUFV1c.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)
11g.67610482C=CA1980189982NDUFV1c.612C= (p.Tyr204=)
c.591C= (p.Tyr197=)
n.354C=
n.471C=
c.585C= (p.Tyr195=)
c.309C= (p.Tyr103=)
c.90C= (p.Tyr30=)
11g.67610482C>GCA381536964NDUFV1c.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)
11g.67610482C>TCA6143225NDUFV1c.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
11g.67610483A>CCA381536965NDUFV1c.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
11g.67610483A>GCA381536966NDUFV1c.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)
11g.67610483A>TCA381536967NDUFV1c.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)
11g.67610484T>ACA381536969NDUFV1c.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)
11g.67610484T>CCA381536972NDUFV1c.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)
11g.67610484T>GCA381536974NDUFV1c.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)
11g.67610485C>ACA475412629NDUFV1c.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
11g.67610485C>GCA381536977NDUFV1c.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)
11g.67610485C>TCA475412631NDUFV1c.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=)
11g.67610486T>ACA381536980NDUFV1c.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)
11g.67610486T>CCA381536982NDUFV1c.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
11g.67610486T>GCA381536984NDUFV1c.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)
11g.67610487G>ACA322089NDUFV1c.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
11g.67610487G>CCA381536988NDUFV1c.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
11g.67610487G=CA1980189994NDUFV1c.617G= (p.Cys206=)
c.596G= (p.Cys199=)
n.359G=
n.476G=
c.590G= (p.Cys197=)
c.314G= (p.Cys105=)
c.95G= (p.Cys32=)
11g.67610487G>TCA381536987NDUFV1c.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)
11g.67610488T>ACA381536989NDUFV1c.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)
11g.67610488T>CCA475412648NDUFV1c.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=)
11g.67610488T>GCA381536990NDUFV1c.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)
11g.67610489G>ACA381536992NDUFV1c.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)
11g.67610489G>CCA381536994NDUFV1c.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)
11g.67610489G>TCA381536999NDUFV1c.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)
11g.67610490G>ACA381537002NDUFV1c.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
11g.67610490G>CCA381537005NDUFV1c.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)
11g.67610490G=CA1980190000NDUFV1c.620G= (p.Gly207=)
c.599G= (p.Gly200=)
n.362G=
n.479G=
c.593G= (p.Gly198=)
c.317G= (p.Gly106=)
c.98G= (p.Gly33=)
11g.67610490G>TCA381537007NDUFV1c.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)
11g.67610491A>CCA475412662NDUFV1c.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=)
11g.67610491A>GCA475412664NDUFV1c.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
11g.67610491A>TCA475412667NDUFV1c.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=)
11g.67610492G>ACA381537010NDUFV1c.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)
11g.67610492G>CCA381537012NDUFV1c.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)
11g.67610492G>TCA381537013NDUFV1c.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)
11g.67610493A>CCA381537016NDUFV1c.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)
11g.67610493A>GCA381537019NDUFV1c.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)
11g.67610493A>TCA381537015NDUFV1c.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)
11g.67610494G>ACA475412679NDUFV1c.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
11g.67610494G>CCA381537021NDUFV1c.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)
11g.67610494G=CA1980190003NDUFV1c.624G= (p.Glu208=)
c.603G= (p.Glu201=)
n.366G=
n.483G=
c.597G= (p.Glu199=)
c.321G= (p.Glu107=)
c.102G= (p.Glu34=)
11g.67610494G>TCA381537024NDUFV1c.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)
11g.67610495G>ACA381537026NDUFV1c.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)
11g.67610495G>CCA381537027NDUFV1c.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
11g.67610495G>TCA381537029NDUFV1c.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)
11g.67610496A>CCA381537039NDUFV1c.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)
11g.67610496A>GCA381537032NDUFV1c.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)
11g.67610496A>TCA381537037NDUFV1c.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)
11g.67610497G>ACA475412693NDUFV1c.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=)
11g.67610497G>CCA381537041NDUFV1c.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)
11g.67610497G>TCA381537043NDUFV1c.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)
11g.67610498A>CCA381537046NDUFV1c.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)
11g.67610498A>GCA381537047NDUFV1c.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)
11g.67610498A>TCA381537048NDUFV1c.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)
11g.67610499C>ACA381537049NDUFV1c.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)
11g.67610499C=CA1980190009NDUFV1c.629C= (p.Thr210=)
c.608C= (p.Thr203=)
n.371C=
n.488C=
c.602C= (p.Thr201=)
c.326C= (p.Thr109=)
c.107C= (p.Thr36=)
11g.67610499C>GCA381537055NDUFV1c.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
11g.67610499C>TCA6143226NDUFV1c.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
11g.67610500A=CA1980190013NDUFV1c.630A= (p.Thr210=)
c.609A= (p.Thr203=)
n.372A=
n.489A=
c.603A= (p.Thr201=)
c.327A= (p.Thr109=)
c.108A= (p.Thr36=)
11g.67610500A>CCA475412708NDUFV1c.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
11g.67610500A>GCA475412706NDUFV1c.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
11g.67610500A>TCA475412711NDUFV1c.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=)
11g.67610501G>ACA381537056NDUFV1c.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)
11g.67610501G>CCA381537061NDUFV1c.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)
11g.67610501G>TCA381537063NDUFV1c.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)
11g.67610502C>ACA381537066NDUFV1c.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)
11g.67610502C=CA1980190016NDUFV1c.632C= (p.Ala211=)
c.611C= (p.Ala204=)
n.374C=
n.491C=
c.605C= (p.Ala202=)
c.329C= (p.Ala110=)
c.110C= (p.Ala37=)
11g.67610502C>GCA381537068NDUFV1c.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)
11g.67610502C>TCA6143227NDUFV1c.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
11g.67610503G>ACA6143228NDUFV1c.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
11g.67610503G>CCA6143229NDUFV1c.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
11g.67610503G=CA1980190018NDUFV1c.633G= (p.Ala211=)
c.612G= (p.Ala204=)
n.375G=
n.492G=
c.606G= (p.Ala202=)
c.330G= (p.Ala110=)
c.111G= (p.Ala37=)
11g.67610503G>TCA475412727NDUFV1c.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

Number of alleles fetched