Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.67610530G>ACA475412833NDUFV1c.660G>A (p.Gln220=)
c.639G>A (p.Gln213=)
n.402G>A
n.519G>A
c.633G>A (p.Gln211=)
c.357G>A (p.Gln119=)
c.138G>A (p.Gln46=)
11g.67610530G>CCA381537247NDUFV1c.660G>C (p.Gln220His)
c.639G>C (p.Gln213His)
n.402G>C
n.519G>C
c.633G>C (p.Gln211His)
c.357G>C (p.Gln119His)
c.138G>C (p.Gln46His)
11g.67610530G>TCA381537249NDUFV1c.660G>T (p.Gln220His)
c.639G>T (p.Gln213His)
n.402G>T
n.519G>T
c.633G>T (p.Gln211His)
c.357G>T (p.Gln119His)
c.138G>T (p.Gln46His)
11g.67610531G>ACA381537255NDUFV1c.661G>A (p.Gly221Ser)
c.640G>A (p.Gly214Ser)
n.403G>A
n.520G>A
c.634G>A (p.Gly212Ser)
c.358G>A (p.Gly120Ser)
c.139G>A (p.Gly47Ser)
11g.67610531G>CCA381537257NDUFV1c.661G>C (p.Gly221Arg)
c.640G>C (p.Gly214Arg)
n.403G>C
n.520G>C
c.634G>C (p.Gly212Arg)
c.358G>C (p.Gly120Arg)
c.139G>C (p.Gly47Arg)
11g.67610531G>TCA381537252NDUFV1c.661G>T (p.Gly221Cys)
c.640G>T (p.Gly214Cys)
n.403G>T
n.520G>T
c.634G>T (p.Gly212Cys)
c.358G>T (p.Gly120Cys)
c.139G>T (p.Gly47Cys)
11g.67610532G>ACA381537259NDUFV1c.662G>A (p.Gly221Asp)
c.641G>A (p.Gly214Asp)
n.404G>A
n.521G>A
c.635G>A (p.Gly212Asp)
c.359G>A (p.Gly120Asp)
c.140G>A (p.Gly47Asp)
 ClinVar
11g.67610532G>CCA381537262NDUFV1c.662G>C (p.Gly221Ala)
c.641G>C (p.Gly214Ala)
n.404G>C
n.521G>C
c.635G>C (p.Gly212Ala)
c.359G>C (p.Gly120Ala)
c.140G>C (p.Gly47Ala)
11g.67610532G>TCA381537261NDUFV1c.662G>T (p.Gly221Val)
c.641G>T (p.Gly214Val)
n.404G>T
n.521G>T
c.635G>T (p.Gly212Val)
c.359G>T (p.Gly120Val)
c.140G>T (p.Gly47Val)
11g.67610533C>ACA475412834NDUFV1c.663C>A (p.Gly221=)
c.642C>A (p.Gly214=)
n.405C>A
n.522C>A
c.636C>A (p.Gly212=)
c.360C>A (p.Gly120=)
c.141C>A (p.Gly47=)
11g.67610533C>GCA475412835NDUFV1c.663C>G (p.Gly221=)
c.642C>G (p.Gly214=)
n.405C>G
n.522C>G
c.636C>G (p.Gly212=)
c.360C>G (p.Gly120=)
c.141C>G (p.Gly47=)
11g.67610533C>TCA475412836NDUFV1c.663C>T (p.Gly221=)
c.642C>T (p.Gly214=)
n.405C>T
n.522C>T
c.636C>T (p.Gly212=)
c.360C>T (p.Gly120=)
c.141C>T (p.Gly47=)
 gnomAD v4
11g.67610533_67610534insTGGCGCTGGGTGCA2614647529NDUFV1c.663_664insTGGCGCTGGGTG (p.Gly221_Lys222insTrpArgTrpVal)
c.642_643insTGGCGCTGGGTG (p.Gly214_Lys215insTrpArgTrpVal)
n.405_406insTGGCGCTGGGTG
n.522_523insTGGCGCTGGGTG
c.636_637insTGGCGCTGGGTG (p.Gly212_Lys213insTrpArgTrpVal)
c.360_361insTGGCGCTGGGTG (p.Gly120_Lys121insTrpArgTrpVal)
c.141_142insTGGCGCTGGGTG (p.Gly47_Lys48insTrpArgTrpVal)
 gnomAD v4
11g.67610534A=CA1980190094NDUFV1c.664A= (p.Lys222=)
c.643A= (p.Lys215=)
n.406A=
n.523A=
c.637A= (p.Lys213=)
c.361A= (p.Lys121=)
c.142A= (p.Lys48=)
11g.67610534A>CCA381537265NDUFV1c.664A>C (p.Lys222Gln)
c.643A>C (p.Lys215Gln)
n.406A>C
n.523A>C
c.637A>C (p.Lys213Gln)
c.361A>C (p.Lys121Gln)
c.142A>C (p.Lys48Gln)
 dbSNP
11g.67610534A>GCA6143235NDUFV1c.664A>G (p.Lys222Glu)
c.643A>G (p.Lys215Glu)
n.406A>G
n.523A>G
c.637A>G (p.Lys213Glu)
c.361A>G (p.Lys121Glu)
c.142A>G (p.Lys48Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610534A>TCA381537269NDUFV1c.664A>T (p.Lys222Ter)
c.643A>T (p.Lys215Ter)
n.406A>T
n.523A>T
c.637A>T (p.Lys213Ter)
c.361A>T (p.Lys121Ter)
c.142A>T (p.Lys48Ter)
11g.67610535A>CCA381537276NDUFV1c.665A>C (p.Lys222Thr)
c.644A>C (p.Lys215Thr)
n.407A>C
n.524A>C
c.638A>C (p.Lys213Thr)
c.362A>C (p.Lys121Thr)
c.143A>C (p.Lys48Thr)
11g.67610535A>GCA381537281NDUFV1c.665A>G (p.Lys222Arg)
c.644A>G (p.Lys215Arg)
n.407A>G
n.524A>G
c.638A>G (p.Lys213Arg)
c.362A>G (p.Lys121Arg)
c.143A>G (p.Lys48Arg)
11g.67610535A>TCA381537277NDUFV1c.665A>T (p.Lys222Met)
c.644A>T (p.Lys215Met)
n.407A>T
n.524A>T
c.638A>T (p.Lys213Met)
c.362A>T (p.Lys121Met)
c.143A>T (p.Lys48Met)
11g.67610536G>ACA475412837NDUFV1c.666G>A (p.Lys222=)
c.645G>A (p.Lys215=)
n.408G>A
n.525G>A
c.639G>A (p.Lys213=)
c.363G>A (p.Lys121=)
c.144G>A (p.Lys48=)
 ClinVar gnomAD v4
11g.67610536G>CCA381537283NDUFV1c.666G>C (p.Lys222Asn)
c.645G>C (p.Lys215Asn)
n.408G>C
n.525G>C
c.639G>C (p.Lys213Asn)
c.363G>C (p.Lys121Asn)
c.144G>C (p.Lys48Asn)
11g.67610536G>TCA381537284NDUFV1c.666G>T (p.Lys222Asn)
c.645G>T (p.Lys215Asn)
n.408G>T
n.525G>T
c.639G>T (p.Lys213Asn)
c.363G>T (p.Lys121Asn)
c.144G>T (p.Lys48Asn)
 gnomAD v4
11g.67610536_67610537insTGGCCTGTCCATGCA2614647531NDUFV1c.666_667insTGGCCTGTCCATG (p.Pro223TrpfsTer?)
c.645_646insTGGCCTGTCCATG (p.Pro216TrpfsTer?)
n.408_409insTGGCCTGTCCATG
n.525_526insTGGCCTGTCCATG
c.639_640insTGGCCTGTCCATG (p.Pro214TrpfsTer?)
c.363_364insTGGCCTGTCCATG (p.Pro122TrpfsTer17)
c.363_364insTGGCCTGTCCATG (p.Pro122TrpfsTer?)
c.144_145insTGGCCTGTCCATG (p.Pro49TrpfsTer?)
 gnomAD v4
11g.67610537C>ACA381537286NDUFV1c.667C>A (p.Pro223Thr)
c.646C>A (p.Pro216Thr)
n.409C>A
n.526C>A
c.640C>A (p.Pro214Thr)
c.364C>A (p.Pro122Thr)
c.145C>A (p.Pro49Thr)
 gnomAD v4
11g.67610537C>GCA381537293NDUFV1c.667C>G (p.Pro223Ala)
c.646C>G (p.Pro216Ala)
n.409C>G
n.526C>G
c.640C>G (p.Pro214Ala)
c.364C>G (p.Pro122Ala)
c.145C>G (p.Pro49Ala)
11g.67610537C>TCA381537296NDUFV1c.667C>T (p.Pro223Ser)
c.646C>T (p.Pro216Ser)
n.409C>T
n.526C>T
c.640C>T (p.Pro214Ser)
c.364C>T (p.Pro122Ser)
c.145C>T (p.Pro49Ser)
 gnomAD v4
11g.67610538C>ACA381537300NDUFV1c.668C>A (p.Pro223His)
c.647C>A (p.Pro216His)
n.410C>A
n.527C>A
c.641C>A (p.Pro214His)
c.365C>A (p.Pro122His)
c.146C>A (p.Pro49His)
11g.67610538C>GCA381537307NDUFV1c.668C>G (p.Pro223Arg)
c.647C>G (p.Pro216Arg)
n.410C>G
n.527C>G
c.641C>G (p.Pro214Arg)
c.365C>G (p.Pro122Arg)
c.146C>G (p.Pro49Arg)
11g.67610538C>TCA381537309NDUFV1c.668C>T (p.Pro223Leu)
c.647C>T (p.Pro216Leu)
n.410C>T
n.527C>T
c.641C>T (p.Pro214Leu)
c.365C>T (p.Pro122Leu)
c.146C>T (p.Pro49Leu)
11g.67610539C>ACA475412838NDUFV1c.669C>A (p.Pro223=)
c.648C>A (p.Pro216=)
n.411C>A
n.528C>A
c.642C>A (p.Pro214=)
c.366C>A (p.Pro122=)
c.147C>A (p.Pro49=)
11g.67610539C=CA1980190097NDUFV1c.669C= (p.Pro223=)
c.648C= (p.Pro216=)
n.411C=
n.528C=
c.642C= (p.Pro214=)
c.366C= (p.Pro122=)
c.147C= (p.Pro49=)
11g.67610539C>GCA475412839NDUFV1c.669C>G (p.Pro223=)
c.648C>G (p.Pro216=)
n.411C>G
n.528C>G
c.642C>G (p.Pro214=)
c.366C>G (p.Pro122=)
c.147C>G (p.Pro49=)
 gnomAD v4
11g.67610539C>TCA475412840NDUFV1c.669C>T (p.Pro223=)
c.648C>T (p.Pro216=)
n.411C>T
n.528C>T
c.642C>T (p.Pro214=)
c.366C>T (p.Pro122=)
c.147C>T (p.Pro49=)
 dbSNP
11g.67610540C>ACA381537324NDUFV1c.670C>A (p.Arg224Ser)
c.649C>A (p.Arg217Ser)
n.412C>A
n.529C>A
c.643C>A (p.Arg215Ser)
c.367C>A (p.Arg123Ser)
c.148C>A (p.Arg50Ser)
 dbSNP
11g.67610540C=CA1980190099NDUFV1c.670C= (p.Arg224=)
c.649C= (p.Arg217=)
n.412C=
n.529C=
c.643C= (p.Arg215=)
c.367C= (p.Arg123=)
c.148C= (p.Arg50=)
11g.67610540C>GCA381537315NDUFV1c.670C>G (p.Arg224Gly)
c.649C>G (p.Arg217Gly)
n.412C>G
n.529C>G
c.643C>G (p.Arg215Gly)
c.367C>G (p.Arg123Gly)
c.148C>G (p.Arg50Gly)
11g.67610540C>TCA6143236NDUFV1c.670C>T (p.Arg224Cys)
c.649C>T (p.Arg217Cys)
n.412C>T
n.529C>T
c.643C>T (p.Arg215Cys)
c.367C>T (p.Arg123Cys)
c.148C>T (p.Arg50Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610541G>ACA6143238NDUFV1c.671G>A (p.Arg224His)
c.650G>A (p.Arg217His)
n.413G>A
n.530G>A
c.644G>A (p.Arg215His)
c.368G>A (p.Arg123His)
c.149G>A (p.Arg50His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610541G>CCA381537340NDUFV1c.671G>C (p.Arg224Pro)
c.650G>C (p.Arg217Pro)
n.413G>C
n.530G>C
c.644G>C (p.Arg215Pro)
c.368G>C (p.Arg123Pro)
c.149G>C (p.Arg50Pro)
11g.67610541G=CA1980190113NDUFV1c.671G= (p.Arg224=)
c.650G= (p.Arg217=)
n.413G=
n.530G=
c.644G= (p.Arg215=)
c.368G= (p.Arg123=)
c.149G= (p.Arg50=)
11g.67610541G>TCA6143237NDUFV1c.671G>T (p.Arg224Leu)
c.650G>T (p.Arg217Leu)
n.413G>T
n.530G>T
c.644G>T (p.Arg215Leu)
c.368G>T (p.Arg123Leu)
c.149G>T (p.Arg50Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610542C>ACA475412841NDUFV1c.672C>A (p.Arg224=)
c.651C>A (p.Arg217=)
n.414C>A
n.531C>A
c.645C>A (p.Arg215=)
c.369C>A (p.Arg123=)
c.150C>A (p.Arg50=)
11g.67610542C=CA1980190118NDUFV1c.672C= (p.Arg224=)
c.651C= (p.Arg217=)
n.414C=
n.531C=
c.645C= (p.Arg215=)
c.369C= (p.Arg123=)
c.150C= (p.Arg50=)
11g.67610542C>GCA475412843NDUFV1c.672C>G (p.Arg224=)
c.651C>G (p.Arg217=)
n.414C>G
n.531C>G
c.645C>G (p.Arg215=)
c.369C>G (p.Arg123=)
c.150C>G (p.Arg50=)
 dbSNP
11g.67610542C>TCA475412842NDUFV1c.672C>T (p.Arg224=)
c.651C>T (p.Arg217=)
n.414C>T
n.531C>T
c.645C>T (p.Arg215=)
c.369C>T (p.Arg123=)
c.150C>T (p.Arg50=)
11g.67610543C>ACA381537360NDUFV1c.673C>A (p.Leu225Met)
c.652C>A (p.Leu218Met)
n.415C>A
n.532C>A
c.646C>A (p.Leu216Met)
c.370C>A (p.Leu124Met)
c.151C>A (p.Leu51Met)
11g.67610543C=CA1980190121NDUFV1c.673C= (p.Leu225=)
c.652C= (p.Leu218=)
n.415C=
n.532C=
c.646C= (p.Leu216=)
c.370C= (p.Leu124=)
c.151C= (p.Leu51=)
11g.67610543C>GCA381537365NDUFV1c.673C>G (p.Leu225Val)
c.652C>G (p.Leu218Val)
n.415C>G
n.532C>G
c.646C>G (p.Leu216Val)
c.370C>G (p.Leu124Val)
c.151C>G (p.Leu51Val)
11g.67610543C>TCA475412844NDUFV1c.673C>T (p.Leu225=)
c.652C>T (p.Leu218=)
n.415C>T
n.532C>T
c.646C>T (p.Leu216=)
c.370C>T (p.Leu124=)
c.151C>T (p.Leu51=)
 dbSNP
11g.67610544T>ACA381537374NDUFV1c.674T>A (p.Leu225Gln)
c.653T>A (p.Leu218Gln)
n.416T>A
n.533T>A
c.647T>A (p.Leu216Gln)
c.371T>A (p.Leu124Gln)
c.152T>A (p.Leu51Gln)
 dbSNP
11g.67610544T>CCA224180303NDUFV1c.674T>C (p.Leu225Pro)
c.653T>C (p.Leu218Pro)
n.416T>C
n.533T>C
c.647T>C (p.Leu216Pro)
c.371T>C (p.Leu124Pro)
c.152T>C (p.Leu51Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.67610544T>GCA381537373NDUFV1c.674T>G (p.Leu225Arg)
c.653T>G (p.Leu218Arg)
n.416T>G
n.533T>G
c.647T>G (p.Leu216Arg)
c.371T>G (p.Leu124Arg)
c.152T>G (p.Leu51Arg)
11g.67610544T=CA1980190129NDUFV1c.674T= (p.Leu225=)
c.653T= (p.Leu218=)
n.416T=
n.533T=
c.647T= (p.Leu216=)
c.371T= (p.Leu124=)
c.152T= (p.Leu51=)
11g.67610545G>ACA475412845NDUFV1c.675G>A (p.Leu225=)
c.654G>A (p.Leu218=)
n.417G>A
n.534G>A
c.648G>A (p.Leu216=)
c.372G>A (p.Leu124=)
c.153G>A (p.Leu51=)
 dbSNP
11g.67610545G>CCA475412847NDUFV1c.675G>C (p.Leu225=)
c.654G>C (p.Leu218=)
n.417G>C
n.534G>C
c.648G>C (p.Leu216=)
c.372G>C (p.Leu124=)
c.153G>C (p.Leu51=)
11g.67610545G=CA1980190144NDUFV1c.675G= (p.Leu225=)
c.654G= (p.Leu218=)
n.417G=
n.534G=
c.648G= (p.Leu216=)
c.372G= (p.Leu124=)
c.153G= (p.Leu51=)
11g.67610545G>TCA475412846NDUFV1c.675G>T (p.Leu225=)
c.654G>T (p.Leu218=)
n.417G>T
n.534G>T
c.648G>T (p.Leu216=)
c.372G>T (p.Leu124=)
c.153G>T (p.Leu51=)
11g.67610546A>CCA381537377NDUFV1c.676A>C (p.Lys226Gln)
c.655A>C (p.Lys219Gln)
n.418A>C
n.535A>C
c.649A>C (p.Lys217Gln)
c.373A>C (p.Lys125Gln)
c.154A>C (p.Lys52Gln)
11g.67610546A>GCA381537379NDUFV1c.676A>G (p.Lys226Glu)
c.655A>G (p.Lys219Glu)
n.418A>G
n.535A>G
c.649A>G (p.Lys217Glu)
c.373A>G (p.Lys125Glu)
c.154A>G (p.Lys52Glu)
11g.67610546A>TCA381537380NDUFV1c.676A>T (p.Lys226Ter)
c.655A>T (p.Lys219Ter)
n.418A>T
n.535A>T
c.649A>T (p.Lys217Ter)
c.373A>T (p.Lys125Ter)
c.154A>T (p.Lys52Ter)
11g.67610547A>CCA381537381NDUFV1c.677A>C (p.Lys226Thr)
c.656A>C (p.Lys219Thr)
n.419A>C
n.536A>C
c.650A>C (p.Lys217Thr)
c.374A>C (p.Lys125Thr)
c.155A>C (p.Lys52Thr)
11g.67610547A>GCA381537382NDUFV1c.677A>G (p.Lys226Arg)
c.656A>G (p.Lys219Arg)
n.419A>G
n.536A>G
c.650A>G (p.Lys217Arg)
c.374A>G (p.Lys125Arg)
c.155A>G (p.Lys52Arg)
11g.67610547A>TCA381537388NDUFV1c.677A>T (p.Lys226Met)
c.656A>T (p.Lys219Met)
n.419A>T
n.536A>T
c.650A>T (p.Lys217Met)
c.374A>T (p.Lys125Met)
c.155A>T (p.Lys52Met)
11g.67610548G>ACA475412850NDUFV1c.678G>A (p.Lys226=)
c.657G>A (p.Lys219=)
n.420G>A
n.537G>A
c.651G>A (p.Lys217=)
c.375G>A (p.Lys125=)
c.156G>A (p.Lys52=)
11g.67610548G>CCA381537396NDUFV1c.678G>C (p.Lys226Asn)
c.657G>C (p.Lys219Asn)
n.420G>C
n.537G>C
c.651G>C (p.Lys217Asn)
c.375G>C (p.Lys125Asn)
c.156G>C (p.Lys52Asn)
11g.67610548G>TCA381537400NDUFV1c.678G>T (p.Lys226Asn)
c.657G>T (p.Lys219Asn)
n.420G>T
n.537G>T
c.651G>T (p.Lys217Asn)
c.375G>T (p.Lys125Asn)
c.156G>T (p.Lys52Asn)
11g.67610548_67610549delinsGCCA1980190150NDUFV1c.678_679delinsGC (p.Lys226=)
c.657_658delinsGC (p.Lys219=)
n.420_421delinsGC
n.537_538delinsGC
c.651_652delinsGC (p.Lys217=)
c.375_376delinsGC (p.Lys125=)
c.156_157delinsGC (p.Lys52=)
11g.67610549C>ACA381537418NDUFV1c.679C>A (p.Pro227Thr)
c.658C>A (p.Pro220Thr)
n.421C>A
n.538C>A
c.652C>A (p.Pro218Thr)
c.376C>A (p.Pro126Thr)
c.157C>A (p.Pro53Thr)
11g.67610549C=CA1980190155NDUFV1c.679C= (p.Pro227=)
c.658C= (p.Pro220=)
n.421C=
n.538C=
c.652C= (p.Pro218=)
c.376C= (p.Pro126=)
c.157C= (p.Pro53=)
11g.67610549C>GCA381537422NDUFV1c.679C>G (p.Pro227Ala)
c.658C>G (p.Pro220Ala)
n.421C>G
n.538C>G
c.652C>G (p.Pro218Ala)
c.376C>G (p.Pro126Ala)
c.157C>G (p.Pro53Ala)
11g.67610549C>TCA6143240NDUFV1c.679C>T (p.Pro227Ser)
c.658C>T (p.Pro220Ser)
n.421C>T
n.538C>T
c.652C>T (p.Pro218Ser)
c.376C>T (p.Pro126Ser)
c.157C>T (p.Pro53Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67610554dupCA6143239NDUFV1c.684dup (p.Phe229LeufsTer?)
c.663dup (p.Phe222LeufsTer?)
n.426dup
n.543dup
c.657dup (p.Phe220LeufsTer?)
c.381dup (p.Phe128LeufsTer7)
c.381dup (p.Phe128LeufsTer?)
c.162dup (p.Phe55LeufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.67610554delCA224180314NDUFV1c.684del (p.Phe229SerfsTer?)
c.663del (p.Phe222SerfsTer?)
n.426del
n.543del
c.657del (p.Phe220SerfsTer?)
c.381del (p.Phe128SerfsTer?)
c.162del (p.Phe55SerfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.67610550C>ACA381537433NDUFV1c.680C>A (p.Pro227His)
c.659C>A (p.Pro220His)
n.422C>A
n.539C>A
c.653C>A (p.Pro218His)
c.377C>A (p.Pro126His)
c.158C>A (p.Pro53His)
 gnomAD v4
11g.67610550C=CA1980190171NDUFV1c.680C= (p.Pro227=)
c.659C= (p.Pro220=)
n.422C=
n.539C=
c.653C= (p.Pro218=)
c.377C= (p.Pro126=)
c.158C= (p.Pro53=)
11g.67610550C>GCA381537437NDUFV1c.680C>G (p.Pro227Arg)
c.659C>G (p.Pro220Arg)
n.422C>G
n.539C>G
c.653C>G (p.Pro218Arg)
c.377C>G (p.Pro126Arg)
c.158C>G (p.Pro53Arg)
11g.67610550C>TCA224180321NDUFV1c.680C>T (p.Pro227Leu)
c.659C>T (p.Pro220Leu)
n.422C>T
n.539C>T
c.653C>T (p.Pro218Leu)
c.377C>T (p.Pro126Leu)
c.158C>T (p.Pro53Leu)
 dbSNP
11g.67610551C>ACA475412871NDUFV1c.681C>A (p.Pro227=)
c.660C>A (p.Pro220=)
n.423C>A
n.540C>A
c.654C>A (p.Pro218=)
c.378C>A (p.Pro126=)
c.159C>A (p.Pro53=)
 dbSNP
11g.67610551C=CA1980190174NDUFV1c.681C= (p.Pro227=)
c.660C= (p.Pro220=)
n.423C=
n.540C=
c.654C= (p.Pro218=)
c.378C= (p.Pro126=)
c.159C= (p.Pro53=)
11g.67610551C>GCA475412873NDUFV1c.681C>G (p.Pro227=)
c.660C>G (p.Pro220=)
n.423C>G
n.540C>G
c.654C>G (p.Pro218=)
c.378C>G (p.Pro126=)
c.159C>G (p.Pro53=)
11g.67610551C>TCA475412876NDUFV1c.681C>T (p.Pro227=)
c.660C>T (p.Pro220=)
n.423C>T
n.540C>T
c.654C>T (p.Pro218=)
c.378C>T (p.Pro126=)
c.159C>T (p.Pro53=)
 COSMIC
11g.67610552C>ACA381537444NDUFV1c.682C>A (p.Pro228Thr)
c.661C>A (p.Pro221Thr)
n.424C>A
n.541C>A
c.655C>A (p.Pro219Thr)
c.379C>A (p.Pro127Thr)
c.160C>A (p.Pro54Thr)
11g.67610552C>GCA381537448NDUFV1c.682C>G (p.Pro228Ala)
c.661C>G (p.Pro221Ala)
n.424C>G
n.541C>G
c.655C>G (p.Pro219Ala)
c.379C>G (p.Pro127Ala)
c.160C>G (p.Pro54Ala)
 gnomAD v4
11g.67610552C>TCA381537449NDUFV1c.682C>T (p.Pro228Ser)
c.661C>T (p.Pro221Ser)
n.424C>T
n.541C>T
c.655C>T (p.Pro219Ser)
c.379C>T (p.Pro127Ser)
c.160C>T (p.Pro54Ser)
 COSMIC
11g.67610553C>ACA381537450NDUFV1c.683C>A (p.Pro228His)
c.662C>A (p.Pro221His)
n.425C>A
n.542C>A
c.656C>A (p.Pro219His)
c.380C>A (p.Pro127His)
c.161C>A (p.Pro54His)
 dbSNP gnomAD v3 gnomAD v4
11g.67610553C=CA1980190180NDUFV1c.683C= (p.Pro228=)
c.662C= (p.Pro221=)
n.425C=
n.542C=
c.656C= (p.Pro219=)
c.380C= (p.Pro127=)
c.161C= (p.Pro54=)
11g.67610553C>GCA224180324NDUFV1c.683C>G (p.Pro228Arg)
c.662C>G (p.Pro221Arg)
n.425C>G
n.542C>G
c.656C>G (p.Pro219Arg)
c.380C>G (p.Pro127Arg)
c.161C>G (p.Pro54Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.67610553C>TCA381537463NDUFV1c.683C>T (p.Pro228Leu)
c.662C>T (p.Pro221Leu)
n.425C>T
n.542C>T
c.656C>T (p.Pro219Leu)
c.380C>T (p.Pro127Leu)
c.161C>T (p.Pro54Leu)
 gnomAD v4
11g.67610554C>ACA6143241NDUFV1c.684C>A (p.Pro228=)
c.663C>A (p.Pro221=)
n.426C>A
n.543C>A
c.657C>A (p.Pro219=)
c.381C>A (p.Pro127=)
c.162C>A (p.Pro54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610554C=CA1980190183NDUFV1c.684C= (p.Pro228=)
c.663C= (p.Pro221=)
n.426C=
n.543C=
c.657C= (p.Pro219=)
c.381C= (p.Pro127=)
c.162C= (p.Pro54=)
11g.67610554C>GCA475412893NDUFV1c.684C>G (p.Pro228=)
c.663C>G (p.Pro221=)
n.426C>G
n.543C>G
c.657C>G (p.Pro219=)
c.381C>G (p.Pro127=)
c.162C>G (p.Pro54=)
11g.67610554C>TCA475412895NDUFV1c.684C>T (p.Pro228=)
c.663C>T (p.Pro221=)
n.426C>T
n.543C>T
c.657C>T (p.Pro219=)
c.381C>T (p.Pro127=)
c.162C>T (p.Pro54=)
 ClinVar
11g.67610555T>ACA381537471NDUFV1c.685T>A (p.Phe229Ile)
c.664T>A (p.Phe222Ile)
n.427T>A
n.544T>A
c.658T>A (p.Phe220Ile)
c.382T>A (p.Phe128Ile)
c.163T>A (p.Phe55Ile)
 gnomAD v4
11g.67610555T>CCA381537487NDUFV1c.685T>C (p.Phe229Leu)
c.664T>C (p.Phe222Leu)
n.427T>C
n.544T>C
c.658T>C (p.Phe220Leu)
c.382T>C (p.Phe128Leu)
c.163T>C (p.Phe55Leu)
11g.67610555T>GCA381537491NDUFV1c.685T>G (p.Phe229Val)
c.664T>G (p.Phe222Val)
n.427T>G
n.544T>G
c.658T>G (p.Phe220Val)
c.382T>G (p.Phe128Val)
c.163T>G (p.Phe55Val)
11g.67610556dupCA1980190190NDUFV1c.686dup (p.Ala231ArgfsTer?)
c.665dup (p.Ala224ArgfsTer?)
n.428dup
n.545dup
c.659dup (p.Ala222ArgfsTer?)
c.383dup (p.Ala130ArgfsTer5)
c.383dup (p.Ala130ArgfsTer?)
c.164dup (p.Ala57ArgfsTer?)
 dbSNP
11g.67610556T>ACA381537496NDUFV1c.686T>A (p.Phe229Tyr)
c.665T>A (p.Phe222Tyr)
n.428T>A
n.545T>A
c.659T>A (p.Phe220Tyr)
c.383T>A (p.Phe128Tyr)
c.164T>A (p.Phe55Tyr)
11g.67610556T>CCA381537500NDUFV1c.686T>C (p.Phe229Ser)
c.665T>C (p.Phe222Ser)
n.428T>C
n.545T>C
c.659T>C (p.Phe220Ser)
c.383T>C (p.Phe128Ser)
c.164T>C (p.Phe55Ser)
11g.67610556T>GCA381537502NDUFV1c.686T>G (p.Phe229Cys)
c.665T>G (p.Phe222Cys)
n.428T>G
n.545T>G
c.659T>G (p.Phe220Cys)
c.383T>G (p.Phe128Cys)
c.164T>G (p.Phe55Cys)
 gnomAD v4
11g.67610557C>ACA381537510NDUFV1c.687C>A (p.Phe229Leu)
c.666C>A (p.Phe222Leu)
n.429C>A
n.546C>A
c.660C>A (p.Phe220Leu)
c.384C>A (p.Phe128Leu)
c.165C>A (p.Phe55Leu)
11g.67610557C=CA1980190193NDUFV1c.687C= (p.Phe229=)
c.666C= (p.Phe222=)
n.429C=
n.546C=
c.660C= (p.Phe220=)
c.384C= (p.Phe128=)
c.165C= (p.Phe55=)
11g.67610557C>GCA381537516NDUFV1c.687C>G (p.Phe229Leu)
c.666C>G (p.Phe222Leu)
n.429C>G
n.546C>G
c.660C>G (p.Phe220Leu)
c.384C>G (p.Phe128Leu)
c.165C>G (p.Phe55Leu)
11g.67610557C>TCA475412909NDUFV1c.687C>T (p.Phe229=)
c.666C>T (p.Phe222=)
n.429C>T
n.546C>T
c.660C>T (p.Phe220=)
c.384C>T (p.Phe128=)
c.165C>T (p.Phe55=)
 ClinVar dbSNP gnomAD v4
11g.67610558C>ACA381537521NDUFV1c.688C>A (p.Pro230Thr)
c.667C>A (p.Pro223Thr)
n.430C>A
n.547C>A
c.661C>A (p.Pro221Thr)
c.385C>A (p.Pro129Thr)
c.166C>A (p.Pro56Thr)
11g.67610558C>GCA381537525NDUFV1c.688C>G (p.Pro230Ala)
c.667C>G (p.Pro223Ala)
n.430C>G
n.547C>G
c.661C>G (p.Pro221Ala)
c.385C>G (p.Pro129Ala)
c.166C>G (p.Pro56Ala)
11g.67610558C>TCA381537529NDUFV1c.688C>T (p.Pro230Ser)
c.667C>T (p.Pro223Ser)
n.430C>T
n.547C>T
c.661C>T (p.Pro221Ser)
c.385C>T (p.Pro129Ser)
c.166C>T (p.Pro56Ser)
11g.67610559C>ACA381537541NDUFV1c.689C>A (p.Pro230His)
c.668C>A (p.Pro223His)
n.431C>A
n.548C>A
c.662C>A (p.Pro221His)
c.386C>A (p.Pro129His)
c.167C>A (p.Pro56His)
11g.67610559C>GCA381537544NDUFV1c.689C>G (p.Pro230Arg)
c.668C>G (p.Pro223Arg)
n.431C>G
n.548C>G
c.662C>G (p.Pro221Arg)
c.386C>G (p.Pro129Arg)
c.167C>G (p.Pro56Arg)
11g.67610559C>TCA381537548NDUFV1c.689C>T (p.Pro230Leu)
c.668C>T (p.Pro223Leu)
n.431C>T
n.548C>T
c.662C>T (p.Pro221Leu)
c.386C>T (p.Pro129Leu)
c.167C>T (p.Pro56Leu)
11g.67610560C>ACA475412923NDUFV1c.690C>A (p.Pro230=)
c.669C>A (p.Pro223=)
n.432C>A
n.549C>A
c.663C>A (p.Pro221=)
c.387C>A (p.Pro129=)
c.168C>A (p.Pro56=)
11g.67610560C=CA1980190196NDUFV1c.690C= (p.Pro230=)
c.669C= (p.Pro223=)
n.432C=
n.549C=
c.663C= (p.Pro221=)
c.387C= (p.Pro129=)
c.168C= (p.Pro56=)
11g.67610560C>GCA475412926NDUFV1c.690C>G (p.Pro230=)
c.669C>G (p.Pro223=)
n.432C>G
n.549C>G
c.663C>G (p.Pro221=)
c.387C>G (p.Pro129=)
c.168C>G (p.Pro56=)
11g.67610560C>TCA6143242NDUFV1c.690C>T (p.Pro230=)
c.669C>T (p.Pro223=)
n.432C>T
n.549C>T
c.663C>T (p.Pro221=)
c.387C>T (p.Pro129=)
c.168C>T (p.Pro56=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610561G>ACA6143243NDUFV1c.691G>A (p.Ala231Thr)
c.670G>A (p.Ala224Thr)
n.433G>A
n.550G>A
c.664G>A (p.Ala222Thr)
c.388G>A (p.Ala130Thr)
c.169G>A (p.Ala57Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67610561G>CCA381537559NDUFV1c.691G>C (p.Ala231Pro)
c.670G>C (p.Ala224Pro)
n.433G>C
n.550G>C
c.664G>C (p.Ala222Pro)
c.388G>C (p.Ala130Pro)
c.169G>C (p.Ala57Pro)
 gnomAD v4
11g.67610561G=CA1980190198NDUFV1c.691G= (p.Ala231=)
c.670G= (p.Ala224=)
n.433G=
n.550G=
c.664G= (p.Ala222=)
c.388G= (p.Ala130=)
c.169G= (p.Ala57=)
11g.67610561G>TCA224180342NDUFV1c.691G>T (p.Ala231Ser)
c.670G>T (p.Ala224Ser)
n.433G>T
n.550G>T
c.664G>T (p.Ala222Ser)
c.388G>T (p.Ala130Ser)
c.169G>T (p.Ala57Ser)
 dbSNP gnomAD v4 COSMIC
11g.67610562C>ACA381537573NDUFV1c.692C>A (p.Ala231Glu)
c.671C>A (p.Ala224Glu)
n.434C>A
n.551C>A
c.665C>A (p.Ala222Glu)
c.389C>A (p.Ala130Glu)
c.170C>A (p.Ala57Glu)
11g.67610562C>GCA381537570NDUFV1c.692C>G (p.Ala231Gly)
c.671C>G (p.Ala224Gly)
n.434C>G
n.551C>G
c.665C>G (p.Ala222Gly)
c.389C>G (p.Ala130Gly)
c.170C>G (p.Ala57Gly)
11g.67610562C>TCA381537567NDUFV1c.692C>T (p.Ala231Val)
c.671C>T (p.Ala224Val)
n.434C>T
n.551C>T
c.665C>T (p.Ala222Val)
c.389C>T (p.Ala130Val)
c.170C>T (p.Ala57Val)
11g.67610563A>CCA475412946NDUFV1c.693A>C (p.Ala231=)
c.672A>C (p.Ala224=)
n.435A>C
n.552A>C
c.666A>C (p.Ala222=)
c.390A>C (p.Ala130=)
c.171A>C (p.Ala57=)
11g.67610563A>GCA475412943NDUFV1c.693A>G (p.Ala231=)
c.672A>G (p.Ala224=)
n.435A>G
n.552A>G
c.666A>G (p.Ala222=)
c.390A>G (p.Ala130=)
c.171A>G (p.Ala57=)
 gnomAD v4
11g.67610563A>TCA475412942NDUFV1c.693A>T (p.Ala231=)
c.672A>T (p.Ala224=)
n.435A>T
n.552A>T
c.666A>T (p.Ala222=)
c.390A>T (p.Ala130=)
c.171A>T (p.Ala57=)
11g.67610564G>ACA381537584NDUFV1c.694G>A (p.Asp232Asn)
c.673G>A (p.Asp225Asn)
n.436G>A
n.553G>A
c.667G>A (p.Asp223Asn)
c.391G>A (p.Asp131Asn)
c.172G>A (p.Asp58Asn)
11g.67610564G>CCA381537589NDUFV1c.694G>C (p.Asp232His)
c.673G>C (p.Asp225His)
n.436G>C
n.553G>C
c.667G>C (p.Asp223His)
c.391G>C (p.Asp131His)
c.172G>C (p.Asp58His)
11g.67610564G>TCA381537586NDUFV1c.694G>T (p.Asp232Tyr)
c.673G>T (p.Asp225Tyr)
n.436G>T
n.553G>T
c.667G>T (p.Asp223Tyr)
c.391G>T (p.Asp131Tyr)
c.172G>T (p.Asp58Tyr)

Number of alleles fetched