Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
11g.67610504C>ACA381537078NDUFV1c.634C>A (p.Leu212Ile)
c.613C>A (p.Leu205Ile)
n.376C>A
n.493C>A
c.607C>A (p.Leu203Ile)
c.331C>A (p.Leu111Ile)
c.112C>A (p.Leu38Ile)
11g.67610504C>GCA381537079NDUFV1c.634C>G (p.Leu212Val)
c.613C>G (p.Leu205Val)
n.376C>G
n.493C>G
c.607C>G (p.Leu203Val)
c.331C>G (p.Leu111Val)
c.112C>G (p.Leu38Val)
11g.67610504C>TCA381537080NDUFV1c.634C>T (p.Leu212Phe)
c.613C>T (p.Leu205Phe)
n.376C>T
n.493C>T
c.607C>T (p.Leu203Phe)
c.331C>T (p.Leu111Phe)
c.112C>T (p.Leu38Phe)
11g.67610504_67610507delinsCTCACA1980190025NDUFV1c.634_637delinsCTCA (p.Leu212=)
c.613_616delinsCTCA (p.Leu205=)
n.376_379delinsCTCA
n.493_496delinsCTCA
c.607_610delinsCTCA (p.Leu203=)
c.331_334delinsCTCA (p.Leu111=)
c.112_115delinsCTCA (p.Leu38=)
11g.67610505T>ACA381537086NDUFV1c.635T>A (p.Leu212His)
c.614T>A (p.Leu205His)
n.377T>A
n.494T>A
c.608T>A (p.Leu203His)
c.332T>A (p.Leu111His)
c.113T>A (p.Leu38His)
11g.67610505T>CCA381537085NDUFV1c.635T>C (p.Leu212Pro)
c.614T>C (p.Leu205Pro)
n.377T>C
n.494T>C
c.608T>C (p.Leu203Pro)
c.332T>C (p.Leu111Pro)
c.113T>C (p.Leu38Pro)
 dbSNP gnomAD v4
11g.67610505T>GCA381537082NDUFV1c.635T>G (p.Leu212Arg)
c.614T>G (p.Leu205Arg)
n.377T>G
n.494T>G
c.608T>G (p.Leu203Arg)
c.332T>G (p.Leu111Arg)
c.113T>G (p.Leu38Arg)
11g.67610505T=CA1980190028NDUFV1c.635T= (p.Leu212=)
c.614T= (p.Leu205=)
n.377T=
n.494T=
c.608T= (p.Leu203=)
c.332T= (p.Leu111=)
c.113T= (p.Leu38=)
11g.67610507_67610509delCA600237133NDUFV1c.637_639del (p.Ile213del)
c.616_618del (p.Ile206del)
n.379_381del
n.496_498del
c.610_612del (p.Ile204del)
c.334_336del (p.Ile112del)
c.115_117del (p.Ile39del)
 dbSNP gnomAD v2 gnomAD v4
11g.67610506C>ACA475412738NDUFV1c.636C>A (p.Leu212=)
c.615C>A (p.Leu205=)
n.378C>A
n.495C>A
c.609C>A (p.Leu203=)
c.333C>A (p.Leu111=)
c.114C>A (p.Leu38=)
11g.67610506C>GCA475412740NDUFV1c.636C>G (p.Leu212=)
c.615C>G (p.Leu205=)
n.378C>G
n.495C>G
c.609C>G (p.Leu203=)
c.333C>G (p.Leu111=)
c.114C>G (p.Leu38=)
11g.67610506C>TCA475412743NDUFV1c.636C>T (p.Leu212=)
c.615C>T (p.Leu205=)
n.378C>T
n.495C>T
c.609C>T (p.Leu203=)
c.333C>T (p.Leu111=)
c.114C>T (p.Leu38=)
11g.67610507A>CCA381537089NDUFV1c.637A>C (p.Ile213Leu)
c.616A>C (p.Ile206Leu)
n.379A>C
n.496A>C
c.610A>C (p.Ile204Leu)
c.334A>C (p.Ile112Leu)
c.115A>C (p.Ile39Leu)
 dbSNP
11g.67610507A>GCA381537093NDUFV1c.637A>G (p.Ile213Val)
c.616A>G (p.Ile206Val)
n.379A>G
n.496A>G
c.610A>G (p.Ile204Val)
c.334A>G (p.Ile112Val)
c.115A>G (p.Ile39Val)
11g.67610507A>TCA381537092NDUFV1c.637A>T (p.Ile213Phe)
c.616A>T (p.Ile206Phe)
n.379A>T
n.496A>T
c.610A>T (p.Ile204Phe)
c.334A>T (p.Ile112Phe)
c.115A>T (p.Ile39Phe)
11g.67610508T>ACA381537094NDUFV1c.638T>A (p.Ile213Asn)
c.617T>A (p.Ile206Asn)
n.380T>A
n.497T>A
c.611T>A (p.Ile204Asn)
c.335T>A (p.Ile112Asn)
c.116T>A (p.Ile39Asn)
11g.67610508T>CCA381537095NDUFV1c.638T>C (p.Ile213Thr)
c.617T>C (p.Ile206Thr)
n.380T>C
n.497T>C
c.611T>C (p.Ile204Thr)
c.335T>C (p.Ile112Thr)
c.116T>C (p.Ile39Thr)
11g.67610508T>GCA381537096NDUFV1c.638T>G (p.Ile213Ser)
c.617T>G (p.Ile206Ser)
n.380T>G
n.497T>G
c.611T>G (p.Ile204Ser)
c.335T>G (p.Ile112Ser)
c.116T>G (p.Ile39Ser)
11g.67610509C>ACA475412754NDUFV1c.639C>A (p.Ile213=)
c.618C>A (p.Ile206=)
n.381C>A
n.498C>A
c.612C>A (p.Ile204=)
c.336C>A (p.Ile112=)
c.117C>A (p.Ile39=)
11g.67610509C=CA1980190030NDUFV1c.639C= (p.Ile213=)
c.618C= (p.Ile206=)
n.381C=
n.498C=
c.612C= (p.Ile204=)
c.336C= (p.Ile112=)
c.117C= (p.Ile39=)
11g.67610509C>GCA381537098NDUFV1c.639C>G (p.Ile213Met)
c.618C>G (p.Ile206Met)
n.381C>G
n.498C>G
c.612C>G (p.Ile204Met)
c.336C>G (p.Ile112Met)
c.117C>G (p.Ile39Met)
 dbSNP gnomAD v2 gnomAD v4
11g.67610509C>TCA6143230NDUFV1c.639C>T (p.Ile213=)
c.618C>T (p.Ile206=)
n.381C>T
n.498C>T
c.612C>T (p.Ile204=)
c.336C>T (p.Ile112=)
c.117C>T (p.Ile39=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610510G>ACA123738NDUFV1c.640G>A (p.Glu214Lys)
c.619G>A (p.Glu207Lys)
n.382G>A
n.499G>A
c.613G>A (p.Glu205Lys)
c.337G>A (p.Glu113Lys)
c.118G>A (p.Glu40Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610510G>CCA381537107NDUFV1c.640G>C (p.Glu214Gln)
c.619G>C (p.Glu207Gln)
n.382G>C
n.499G>C
c.613G>C (p.Glu205Gln)
c.337G>C (p.Glu113Gln)
c.118G>C (p.Glu40Gln)
 gnomAD v4
11g.67610510G=CA1980190036NDUFV1c.640G= (p.Glu214=)
c.619G= (p.Glu207=)
n.382G=
n.499G=
c.613G= (p.Glu205=)
c.337G= (p.Glu113=)
c.118G= (p.Glu40=)
11g.67610510G>TCA381537108NDUFV1c.640G>T (p.Glu214Ter)
c.619G>T (p.Glu207Ter)
n.382G>T
n.499G>T
c.613G>T (p.Glu205Ter)
c.337G>T (p.Glu113Ter)
c.118G>T (p.Glu40Ter)
11g.67610511A>CCA381537110NDUFV1c.641A>C (p.Glu214Ala)
c.620A>C (p.Glu207Ala)
n.383A>C
n.500A>C
c.614A>C (p.Glu205Ala)
c.338A>C (p.Glu113Ala)
c.119A>C (p.Glu40Ala)
11g.67610511A>GCA381537113NDUFV1c.641A>G (p.Glu214Gly)
c.620A>G (p.Glu207Gly)
n.383A>G
n.500A>G
c.614A>G (p.Glu205Gly)
c.338A>G (p.Glu113Gly)
c.119A>G (p.Glu40Gly)
 gnomAD v4
11g.67610511A>TCA381537114NDUFV1c.641A>T (p.Glu214Val)
c.620A>T (p.Glu207Val)
n.383A>T
n.500A>T
c.614A>T (p.Glu205Val)
c.338A>T (p.Glu113Val)
c.119A>T (p.Glu40Val)
11g.67610512G>ACA475412771NDUFV1c.642G>A (p.Glu214=)
c.621G>A (p.Glu207=)
n.384G>A
n.501G>A
c.615G>A (p.Glu205=)
c.339G>A (p.Glu113=)
c.120G>A (p.Glu40=)
11g.67610512G>CCA381537117NDUFV1c.642G>C (p.Glu214Asp)
c.621G>C (p.Glu207Asp)
n.384G>C
n.501G>C
c.615G>C (p.Glu205Asp)
c.339G>C (p.Glu113Asp)
c.120G>C (p.Glu40Asp)
11g.67610512G>TCA381537124NDUFV1c.642G>T (p.Glu214Asp)
c.621G>T (p.Glu207Asp)
n.384G>T
n.501G>T
c.615G>T (p.Glu205Asp)
c.339G>T (p.Glu113Asp)
c.120G>T (p.Glu40Asp)
11g.67610513T>ACA381537127NDUFV1c.643T>A (p.Ser215Thr)
c.622T>A (p.Ser208Thr)
n.385T>A
n.502T>A
c.616T>A (p.Ser206Thr)
c.340T>A (p.Ser114Thr)
c.121T>A (p.Ser41Thr)
11g.67610513T>CCA381537137NDUFV1c.643T>C (p.Ser215Pro)
c.622T>C (p.Ser208Pro)
n.385T>C
n.502T>C
c.616T>C (p.Ser206Pro)
c.340T>C (p.Ser114Pro)
c.121T>C (p.Ser41Pro)
11g.67610513T>GCA381537134NDUFV1c.643T>G (p.Ser215Ala)
c.622T>G (p.Ser208Ala)
n.385T>G
n.502T>G
c.616T>G (p.Ser206Ala)
c.340T>G (p.Ser114Ala)
c.121T>G (p.Ser41Ala)
11g.67610514C>ACA381537141NDUFV1c.644C>A (p.Ser215Tyr)
c.623C>A (p.Ser208Tyr)
n.386C>A
n.503C>A
c.617C>A (p.Ser206Tyr)
c.341C>A (p.Ser114Tyr)
c.122C>A (p.Ser41Tyr)
11g.67610514C>GCA381537143NDUFV1c.644C>G (p.Ser215Cys)
c.623C>G (p.Ser208Cys)
n.386C>G
n.503C>G
c.617C>G (p.Ser206Cys)
c.341C>G (p.Ser114Cys)
c.122C>G (p.Ser41Cys)
11g.67610514C>TCA381537146NDUFV1c.644C>T (p.Ser215Phe)
c.623C>T (p.Ser208Phe)
n.386C>T
n.503C>T
c.617C>T (p.Ser206Phe)
c.341C>T (p.Ser114Phe)
c.122C>T (p.Ser41Phe)
11g.67610515C>ACA475412795NDUFV1c.645C>A (p.Ser215=)
c.624C>A (p.Ser208=)
n.387C>A
n.504C>A
c.618C>A (p.Ser206=)
c.342C>A (p.Ser114=)
c.123C>A (p.Ser41=)
11g.67610515C=CA1980190039NDUFV1c.645C= (p.Ser215=)
c.624C= (p.Ser208=)
n.387C=
n.504C=
c.618C= (p.Ser206=)
c.342C= (p.Ser114=)
c.123C= (p.Ser41=)
11g.67610515C>GCA475412792NDUFV1c.645C>G (p.Ser215=)
c.624C>G (p.Ser208=)
n.387C>G
n.504C>G
c.618C>G (p.Ser206=)
c.342C>G (p.Ser114=)
c.123C>G (p.Ser41=)
11g.67610515C>TCA475412790NDUFV1c.645C>T (p.Ser215=)
c.624C>T (p.Ser208=)
n.387C>T
n.504C>T
c.618C>T (p.Ser206=)
c.342C>T (p.Ser114=)
c.123C>T (p.Ser41=)
 dbSNP gnomAD v2 gnomAD v4
11g.67610516A=CA1980190041NDUFV1c.646A= (p.Ile216=)
c.625A= (p.Ile209=)
n.388A=
n.505A=
c.619A= (p.Ile207=)
c.343A= (p.Ile115=)
c.124A= (p.Ile42=)
11g.67610516A>CCA381537150NDUFV1c.646A>C (p.Ile216Leu)
c.625A>C (p.Ile209Leu)
n.388A>C
n.505A>C
c.619A>C (p.Ile207Leu)
c.343A>C (p.Ile115Leu)
c.124A>C (p.Ile42Leu)
 dbSNP
11g.67610516A>GCA381537156NDUFV1c.646A>G (p.Ile216Val)
c.625A>G (p.Ile209Val)
n.388A>G
n.505A>G
c.619A>G (p.Ile207Val)
c.343A>G (p.Ile115Val)
c.124A>G (p.Ile42Val)
 dbSNP gnomAD v3 gnomAD v4
11g.67610516A>TCA381537159NDUFV1c.646A>T (p.Ile216Phe)
c.625A>T (p.Ile209Phe)
n.388A>T
n.505A>T
c.619A>T (p.Ile207Phe)
c.343A>T (p.Ile115Phe)
c.124A>T (p.Ile42Phe)
11g.67610517T>ACA381537162NDUFV1c.647T>A (p.Ile216Asn)
c.626T>A (p.Ile209Asn)
n.389T>A
n.506T>A
c.620T>A (p.Ile207Asn)
c.344T>A (p.Ile115Asn)
c.125T>A (p.Ile42Asn)
11g.67610517T>CCA6143231NDUFV1c.647T>C (p.Ile216Thr)
c.626T>C (p.Ile209Thr)
n.389T>C
n.506T>C
c.620T>C (p.Ile207Thr)
c.344T>C (p.Ile115Thr)
c.125T>C (p.Ile42Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610517T>GCA381537167NDUFV1c.647T>G (p.Ile216Ser)
c.626T>G (p.Ile209Ser)
n.389T>G
n.506T>G
c.620T>G (p.Ile207Ser)
c.344T>G (p.Ile115Ser)
c.125T>G (p.Ile42Ser)
11g.67610517T=CA1980190044NDUFV1c.647T= (p.Ile216=)
c.626T= (p.Ile209=)
n.389T=
n.506T=
c.620T= (p.Ile207=)
c.344T= (p.Ile115=)
c.125T= (p.Ile42=)
11g.67610518T>ACA475412806NDUFV1c.648T>A (p.Ile216=)
c.627T>A (p.Ile209=)
n.390T>A
n.507T>A
c.621T>A (p.Ile207=)
c.345T>A (p.Ile115=)
c.126T>A (p.Ile42=)
11g.67610518T>CCA224180266NDUFV1c.648T>C (p.Ile216=)
c.627T>C (p.Ile209=)
n.390T>C
n.507T>C
c.621T>C (p.Ile207=)
c.345T>C (p.Ile115=)
c.126T>C (p.Ile42=)
 ClinVar dbSNP
11g.67610518T>GCA381537173NDUFV1c.648T>G (p.Ile216Met)
c.627T>G (p.Ile209Met)
n.390T>G
n.507T>G
c.621T>G (p.Ile207Met)
c.345T>G (p.Ile115Met)
c.126T>G (p.Ile42Met)
11g.67610518T=CA1980190048NDUFV1c.648T= (p.Ile216=)
c.627T= (p.Ile209=)
n.390T=
n.507T=
c.621T= (p.Ile207=)
c.345T= (p.Ile115=)
c.126T= (p.Ile42=)
11g.67610519G>ACA381537177NDUFV1c.649G>A (p.Glu217Lys)
c.628G>A (p.Glu210Lys)
n.391G>A
n.508G>A
c.622G>A (p.Glu208Lys)
c.346G>A (p.Glu116Lys)
c.127G>A (p.Glu43Lys)
11g.67610519G>CCA381537176NDUFV1c.649G>C (p.Glu217Gln)
c.628G>C (p.Glu210Gln)
n.391G>C
n.508G>C
c.622G>C (p.Glu208Gln)
c.346G>C (p.Glu116Gln)
c.127G>C (p.Glu43Gln)
11g.67610519G>TCA381537175NDUFV1c.649G>T (p.Glu217Ter)
c.628G>T (p.Glu210Ter)
n.391G>T
n.508G>T
c.622G>T (p.Glu208Ter)
c.346G>T (p.Glu116Ter)
c.127G>T (p.Glu43Ter)
11g.67610519_67610528delinsGAGGGCAAGCCA1980190052NDUFV1c.649_658delinsGAGGGCAAGC (p.Glu217=)
c.628_637delinsGAGGGCAAGC (p.Glu210=)
n.391_400delinsGAGGGCAAGC
n.508_517delinsGAGGGCAAGC
c.622_631delinsGAGGGCAAGC (p.Glu208=)
c.346_355delinsGAGGGCAAGC (p.Glu116=)
c.127_136delinsGAGGGCAAGC (p.Glu43=)
11g.67610520A=CA1980190062NDUFV1c.650A= (p.Glu217=)
c.629A= (p.Glu210=)
n.392A=
n.509A=
c.623A= (p.Glu208=)
c.347A= (p.Glu116=)
c.128A= (p.Glu43=)
11g.67610520A>CCA381537179NDUFV1c.650A>C (p.Glu217Ala)
c.629A>C (p.Glu210Ala)
n.392A>C
n.509A>C
c.623A>C (p.Glu208Ala)
c.347A>C (p.Glu116Ala)
c.128A>C (p.Glu43Ala)
11g.67610520A>GCA381537181NDUFV1c.650A>G (p.Glu217Gly)
c.629A>G (p.Glu210Gly)
n.392A>G
n.509A>G
c.623A>G (p.Glu208Gly)
c.347A>G (p.Glu116Gly)
c.128A>G (p.Glu43Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.67610520A>TCA381537183NDUFV1c.650A>T (p.Glu217Val)
c.629A>T (p.Glu210Val)
n.392A>T
n.509A>T
c.623A>T (p.Glu208Val)
c.347A>T (p.Glu116Val)
c.128A>T (p.Glu43Val)
11g.67610529_67610537dupCA6143232NDUFV1c.659_667dup (p.Lys222_Pro223insGlnGlyLys)
c.638_646dup (p.Lys215_Pro216insGlnGlyLys)
n.401_409dup
n.518_526dup
c.632_640dup (p.Lys213_Pro214insGlnGlyLys)
c.356_364dup (p.Lys121_Pro122insGlnGlyLys)
c.137_145dup (p.Lys48_Pro49insGlnGlyLys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67610529_67610537delCA600237134NDUFV1c.659_667del (p.Gln220_Lys222del)
c.638_646del (p.Gln213_Lys215del)
n.401_409del
n.518_526del
c.632_640del (p.Gln211_Lys213del)
c.356_364del (p.Gln119_Lys121del)
c.137_145del (p.Gln46_Lys48del)
 dbSNP gnomAD v2 gnomAD v4
11g.67610521G>ACA475412823NDUFV1c.651G>A (p.Glu217=)
c.630G>A (p.Glu210=)
n.393G>A
n.510G>A
c.624G>A (p.Glu208=)
c.348G>A (p.Glu116=)
c.129G>A (p.Glu43=)
11g.67610521G>CCA381537184NDUFV1c.651G>C (p.Glu217Asp)
c.630G>C (p.Glu210Asp)
n.393G>C
n.510G>C
c.624G>C (p.Glu208Asp)
c.348G>C (p.Glu116Asp)
c.129G>C (p.Glu43Asp)
11g.67610521G>TCA381537185NDUFV1c.651G>T (p.Glu217Asp)
c.630G>T (p.Glu210Asp)
n.393G>T
n.510G>T
c.624G>T (p.Glu208Asp)
c.348G>T (p.Glu116Asp)
c.129G>T (p.Glu43Asp)
11g.67610522G>ACA381537189NDUFV1c.652G>A (p.Gly218Ser)
c.631G>A (p.Gly211Ser)
n.394G>A
n.511G>A
c.625G>A (p.Gly209Ser)
c.349G>A (p.Gly117Ser)
c.130G>A (p.Gly44Ser)
 dbSNP
11g.67610522G>CCA381537191NDUFV1c.652G>C (p.Gly218Arg)
c.631G>C (p.Gly211Arg)
n.394G>C
n.511G>C
c.625G>C (p.Gly209Arg)
c.349G>C (p.Gly117Arg)
c.130G>C (p.Gly44Arg)
11g.67610522G=CA1980190067NDUFV1c.652G= (p.Gly218=)
c.631G= (p.Gly211=)
n.394G=
n.511G=
c.625G= (p.Gly209=)
c.349G= (p.Gly117=)
c.130G= (p.Gly44=)
11g.67610522G>TCA381537194NDUFV1c.652G>T (p.Gly218Cys)
c.631G>T (p.Gly211Cys)
n.394G>T
n.511G>T
c.625G>T (p.Gly209Cys)
c.349G>T (p.Gly117Cys)
c.130G>T (p.Gly44Cys)
11g.67610523G>ACA381537197NDUFV1c.653G>A (p.Gly218Asp)
c.632G>A (p.Gly211Asp)
n.395G>A
n.512G>A
c.626G>A (p.Gly209Asp)
c.350G>A (p.Gly117Asp)
c.131G>A (p.Gly44Asp)
 gnomAD v4
11g.67610523G>CCA381537201NDUFV1c.653G>C (p.Gly218Ala)
c.632G>C (p.Gly211Ala)
n.395G>C
n.512G>C
c.626G>C (p.Gly209Ala)
c.350G>C (p.Gly117Ala)
c.131G>C (p.Gly44Ala)
11g.67610523G=CA1980190070NDUFV1c.653G= (p.Gly218=)
c.632G= (p.Gly211=)
n.395G=
n.512G=
c.626G= (p.Gly209=)
c.350G= (p.Gly117=)
c.131G= (p.Gly44=)
11g.67610523G>TCA381537203NDUFV1c.653G>T (p.Gly218Val)
c.632G>T (p.Gly211Val)
n.395G>T
n.512G>T
c.626G>T (p.Gly209Val)
c.350G>T (p.Gly117Val)
c.131G>T (p.Gly44Val)
11g.67610523_67610524insTACA918903884NDUFV1c.653_654insTA (p.Lys219ThrfsTer8)
c.632_633insTA (p.Lys212ThrfsTer8)
n.395_396insTA
n.512_513insTA
c.626_627insTA (p.Lys210ThrfsTer8)
c.350_351insTA (p.Lys118ThrfsTer8)
c.131_132insTA (p.Lys45ThrfsTer8)
 dbSNP gnomAD v4
11g.67610524C>ACA475412829NDUFV1c.654C>A (p.Gly218=)
c.633C>A (p.Gly211=)
n.396C>A
n.513C>A
c.627C>A (p.Gly209=)
c.351C>A (p.Gly117=)
c.132C>A (p.Gly44=)
11g.67610524C>GCA475412830NDUFV1c.654C>G (p.Gly218=)
c.633C>G (p.Gly211=)
n.396C>G
n.513C>G
c.627C>G (p.Gly209=)
c.351C>G (p.Gly117=)
c.132C>G (p.Gly44=)
11g.67610524C>TCA475412831NDUFV1c.654C>T (p.Gly218=)
c.633C>T (p.Gly211=)
n.396C>T
n.513C>T
c.627C>T (p.Gly209=)
c.351C>T (p.Gly117=)
c.132C>T (p.Gly44=)
11g.67610525A>CCA381537214NDUFV1c.655A>C (p.Lys219Gln)
c.634A>C (p.Lys212Gln)
n.397A>C
n.514A>C
c.628A>C (p.Lys210Gln)
c.352A>C (p.Lys118Gln)
c.133A>C (p.Lys45Gln)
11g.67610525A>GCA381537211NDUFV1c.655A>G (p.Lys219Glu)
c.634A>G (p.Lys212Glu)
n.397A>G
n.514A>G
c.628A>G (p.Lys210Glu)
c.352A>G (p.Lys118Glu)
c.133A>G (p.Lys45Glu)
11g.67610525A>TCA381537209NDUFV1c.655A>T (p.Lys219Ter)
c.634A>T (p.Lys212Ter)
n.397A>T
n.514A>T
c.628A>T (p.Lys210Ter)
c.352A>T (p.Lys118Ter)
c.133A>T (p.Lys45Ter)
 ClinVar
11g.67610525_67610527delinsAAGCA1980190072NDUFV1c.655_657delinsAAG (p.Lys219=)
c.634_636delinsAAG (p.Lys212=)
n.397_399delinsAAG
n.514_516delinsAAG
c.628_630delinsAAG (p.Lys210=)
c.352_354delinsAAG (p.Lys118=)
c.133_135delinsAAG (p.Lys45=)
11g.67610526A>CCA381537217NDUFV1c.656A>C (p.Lys219Thr)
c.635A>C (p.Lys212Thr)
n.398A>C
n.515A>C
c.629A>C (p.Lys210Thr)
c.353A>C (p.Lys118Thr)
c.134A>C (p.Lys45Thr)
11g.67610526A>GCA381537218NDUFV1c.656A>G (p.Lys219Arg)
c.635A>G (p.Lys212Arg)
n.398A>G
n.515A>G
c.629A>G (p.Lys210Arg)
c.353A>G (p.Lys118Arg)
c.134A>G (p.Lys45Arg)
11g.67610526A>TCA381537219NDUFV1c.656A>T (p.Lys219Met)
c.635A>T (p.Lys212Met)
n.398A>T
n.515A>T
c.629A>T (p.Lys210Met)
c.353A>T (p.Lys118Met)
c.134A>T (p.Lys45Met)
11g.67610526_67610527delCA918903885NDUFV1c.656_657del (p.Lys219ThrfsTer?)
c.635_636del (p.Lys212ThrfsTer?)
n.398_399del
n.515_516del
c.629_630del (p.Lys210ThrfsTer?)
c.353_354del (p.Lys118ThrfsTer16)
c.353_354del (p.Lys118ThrfsTer?)
c.134_135del (p.Lys45ThrfsTer?)
 dbSNP gnomAD v4
11g.67610527G>ACA475412832NDUFV1c.657G>A (p.Lys219=)
c.636G>A (p.Lys212=)
n.399G>A
n.516G>A
c.630G>A (p.Lys210=)
c.354G>A (p.Lys118=)
c.135G>A (p.Lys45=)
11g.67610527G>CCA6143233NDUFV1c.657G>C (p.Lys219Asn)
c.636G>C (p.Lys212Asn)
n.399G>C
n.516G>C
c.630G>C (p.Lys210Asn)
c.354G>C (p.Lys118Asn)
c.135G>C (p.Lys45Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67610527G=CA1980190074NDUFV1c.657G= (p.Lys219=)
c.636G= (p.Lys212=)
n.399G=
n.516G=
c.630G= (p.Lys210=)
c.354G= (p.Lys118=)
c.135G= (p.Lys45=)
11g.67610527G>TCA381537225NDUFV1c.657G>T (p.Lys219Asn)
c.636G>T (p.Lys212Asn)
n.399G>T
n.516G>T
c.630G>T (p.Lys210Asn)
c.354G>T (p.Lys118Asn)
c.135G>T (p.Lys45Asn)
11g.67610528C>ACA381537230NDUFV1c.658C>A (p.Gln220Lys)
c.637C>A (p.Gln213Lys)
n.400C>A
n.517C>A
c.631C>A (p.Gln211Lys)
c.355C>A (p.Gln119Lys)
c.136C>A (p.Gln46Lys)
 dbSNP
11g.67610528C=CA1980190078NDUFV1c.658C= (p.Gln220=)
c.637C= (p.Gln213=)
n.400C=
n.517C=
c.631C= (p.Gln211=)
c.355C= (p.Gln119=)
c.136C= (p.Gln46=)
11g.67610528C>GCA381537232NDUFV1c.658C>G (p.Gln220Glu)
c.637C>G (p.Gln213Glu)
n.400C>G
n.517C>G
c.631C>G (p.Gln211Glu)
c.355C>G (p.Gln119Glu)
c.136C>G (p.Gln46Glu)
 dbSNP
11g.67610528C>TCA381537234NDUFV1c.658C>T (p.Gln220Ter)
c.637C>T (p.Gln213Ter)
n.400C>T
n.517C>T
c.631C>T (p.Gln211Ter)
c.355C>T (p.Gln119Ter)
c.136C>T (p.Gln46Ter)
 gnomAD v4
11g.67610529A=CA1980190085NDUFV1c.659A= (p.Gln220=)
c.638A= (p.Gln213=)
n.401A=
n.518A=
c.632A= (p.Gln211=)
c.356A= (p.Gln119=)
c.137A= (p.Gln46=)
11g.67610529A>CCA224180278NDUFV1c.659A>C (p.Gln220Pro)
c.638A>C (p.Gln213Pro)
n.401A>C
n.518A>C
c.632A>C (p.Gln211Pro)
c.356A>C (p.Gln119Pro)
c.137A>C (p.Gln46Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610529A>GCA6143234NDUFV1c.659A>G (p.Gln220Arg)
c.638A>G (p.Gln213Arg)
n.401A>G
n.518A>G
c.632A>G (p.Gln211Arg)
c.356A>G (p.Gln119Arg)
c.137A>G (p.Gln46Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67610529A>TCA381537242NDUFV1c.659A>T (p.Gln220Leu)
c.638A>T (p.Gln213Leu)
n.401A>T
n.518A>T
c.632A>T (p.Gln211Leu)
c.356A>T (p.Gln119Leu)
c.137A>T (p.Gln46Leu)

Number of alleles fetched