Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68036356C>ACA130613NDUFS8c.476C>A (p.Ala159Asp)
c.408C>A
c.*531C>A (n.*531C>A)
c.38C>A (p.Ala13Asp)
n.328C>A
c.356C>A (p.Ala119Asp)
 ClinVar dbSNP
11g.68036356C=CA1980451988NDUFS8c.476C= (p.Ala159=)
c.408C=
c.*531C= (n.*531C=)
c.38C= (p.Ala13=)
n.328C=
c.356C= (p.Ala119=)
11g.68036356C>GCA381569374NDUFS8c.476C>G (p.Ala159Gly)
c.408C>G
c.*531C>G (n.*531C>G)
c.38C>G (p.Ala13Gly)
n.328C>G
c.356C>G (p.Ala119Gly)
11g.68036356C>TCA381569373NDUFS8c.476C>T (p.Ala159Val)
c.408C>T
c.*531C>T (n.*531C>T)
c.38C>T (p.Ala13Val)
n.328C>T
c.356C>T (p.Ala119Val)
11g.68036357C>ACA475442417NDUFS8c.477C>A (p.Ala159=)
c.409C>A
c.*532C>A (n.*532C>A)
c.39C>A (p.Ala13=)
n.329C>A
c.357C>A (p.Ala119=)
 dbSNP
11g.68036357C=CA1980451994NDUFS8c.477C= (p.Ala159=)
c.409C=
c.*532C= (n.*532C=)
c.39C= (p.Ala13=)
n.329C=
c.357C= (p.Ala119=)
11g.68036357C>GCA475442421NDUFS8c.477C>G (p.Ala159=)
c.409C>G
c.*532C>G (n.*532C>G)
c.39C>G (p.Ala13=)
n.329C>G
c.357C>G (p.Ala119=)
 gnomAD v3 gnomAD v4
11g.68036357C>TCA475442419NDUFS8c.477C>T (p.Ala159=)
c.409C>T
c.*532C>T (n.*532C>T)
c.39C>T (p.Ala13=)
n.329C>T
c.357C>T (p.Ala119=)
 dbSNP gnomAD v2 gnomAD v4
11g.68036358T>ACA381569376NDUFS8c.478T>A (p.Cys160Ser)
c.410T>A
c.*533T>A (n.*533T>A)
c.40T>A (p.Cys14Ser)
n.330T>A
c.358T>A (p.Cys120Ser)
11g.68036358T>CCA381569380NDUFS8c.478T>C (p.Cys160Arg)
c.410T>C
c.*533T>C (n.*533T>C)
c.40T>C (p.Cys14Arg)
n.330T>C
c.358T>C (p.Cys120Arg)
11g.68036358T>GCA381569378NDUFS8c.478T>G (p.Cys160Gly)
c.410T>G
c.*533T>G (n.*533T>G)
c.40T>G (p.Cys14Gly)
n.330T>G
c.358T>G (p.Cys120Gly)
11g.68036359G>ACA381569383NDUFS8c.479G>A (p.Cys160Tyr)
c.411G>A
c.*534G>A (n.*534G>A)
c.41G>A (p.Cys14Tyr)
n.331G>A
c.359G>A (p.Cys120Tyr)
11g.68036359G>CCA381569385NDUFS8c.479G>C (p.Cys160Ser)
c.411G>C
c.*534G>C (n.*534G>C)
c.41G>C (p.Cys14Ser)
n.331G>C
c.359G>C (p.Cys120Ser)
11g.68036359G>TCA381569384NDUFS8c.479G>T (p.Cys160Phe)
c.411G>T
c.*534G>T (n.*534G>T)
c.41G>T (p.Cys14Phe)
n.331G>T
c.359G>T (p.Cys120Phe)
11g.68036360delCA2792527944NDUFS8c.480del (p.Val162TrpfsTer?)
c.412del
c.*535del (n.*535del)
c.42del (p.Val16TrpfsTer?)
n.332del
c.360del (p.Val122TrpfsTer?)
11g.68036360T>ACA381569387NDUFS8c.480T>A (p.Cys160Ter)
c.412T>A
c.*535T>A (n.*535T>A)
c.42T>A (p.Cys14Ter)
n.332T>A
c.360T>A (p.Cys120Ter)
11g.68036360T>CCA475442433NDUFS8c.480T>C (p.Cys160=)
c.412T>C
c.*535T>C (n.*535T>C)
c.42T>C (p.Cys14=)
n.332T>C
c.360T>C (p.Cys120=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68036360T>GCA381569389NDUFS8c.480T>G (p.Cys160Trp)
c.412T>G
c.*535T>G (n.*535T>G)
c.42T>G (p.Cys14Trp)
n.332T>G
c.360T>G (p.Cys120Trp)
 dbSNP
11g.68036360T=CA1980451999NDUFS8c.480T= (p.Cys160=)
c.412T=
c.*535T= (n.*535T=)
c.42T= (p.Cys14=)
n.332T=
c.360T= (p.Cys120=)
11g.68036361C>ACA320413NDUFS8c.481C>A (p.Pro161Thr)
c.413C>A
c.*536C>A (n.*536C>A)
c.43C>A (p.Pro15Thr)
n.333C>A
c.361C>A (p.Pro121Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036361C=CA1980452001NDUFS8c.481C= (p.Pro161=)
c.413C=
c.*536C= (n.*536C=)
c.43C= (p.Pro15=)
n.333C=
c.361C= (p.Pro121=)
11g.68036361C>GCA381569392NDUFS8c.481C>G (p.Pro161Ala)
c.413C>G
c.*536C>G (n.*536C>G)
c.43C>G (p.Pro15Ala)
n.333C>G
c.361C>G (p.Pro121Ala)
 gnomAD v4
11g.68036361C>TCA381569396NDUFS8c.481C>T (p.Pro161Ser)
c.413C>T
c.*536C>T (n.*536C>T)
c.43C>T (p.Pro15Ser)
n.333C>T
c.361C>T (p.Pro121Ser)
 dbSNP
11g.68036361_68036362insGCGACA2614692192NDUFS8c.481_482insGCGA (p.Pro161ArgfsTer13)
c.413_414insGCGA
c.*536_*537insGCGA (n.*536_*537insGCGA)
c.43_44insGCGA (p.Pro15ArgfsTer13)
n.333_334insGCGA
c.361_362insGCGA (p.Pro121ArgfsTer13)
 gnomAD v4
11g.68036362C>ACA381569398NDUFS8c.482C>A (p.Pro161His)
c.414C>A
c.*537C>A (n.*537C>A)
c.44C>A (p.Pro15His)
n.334C>A
c.362C>A (p.Pro121His)
11g.68036362C>GCA381569400NDUFS8c.482C>G (p.Pro161Arg)
c.414C>G
c.*537C>G (n.*537C>G)
c.44C>G (p.Pro15Arg)
n.334C>G
c.362C>G (p.Pro121Arg)
11g.68036362C>TCA381569402NDUFS8c.482C>T (p.Pro161Leu)
c.414C>T
c.*537C>T (n.*537C>T)
c.44C>T (p.Pro15Leu)
n.334C>T
c.362C>T (p.Pro121Leu)
11g.68036363C>ACA475442444NDUFS8c.483C>A (p.Pro161=)
c.415C>A
c.*538C>A (n.*538C>A)
c.45C>A (p.Pro15=)
n.335C>A
c.363C>A (p.Pro121=)
11g.68036363C=CA1980452004NDUFS8c.483C= (p.Pro161=)
c.415C=
c.*538C= (n.*538C=)
c.45C= (p.Pro15=)
n.335C=
c.363C= (p.Pro121=)
11g.68036363C>GCA475442446NDUFS8c.483C>G (p.Pro161=)
c.415C>G
c.*538C>G (n.*538C>G)
c.45C>G (p.Pro15=)
n.335C>G
c.363C>G (p.Pro121=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68036363C>TCA6146537NDUFS8c.483C>T (p.Pro161=)
c.415C>T
c.*538C>T (n.*538C>T)
c.45C>T (p.Pro15=)
n.335C>T
c.363C>T (p.Pro121=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68036364G>ACA381569408NDUFS8c.484G>A (p.Val162Met)
c.416G>A
c.*539G>A (n.*539G>A)
c.46G>A (p.Val16Met)
n.336G>A
c.364G>A (p.Val122Met)
 ClinVar dbSNP gnomAD v4
11g.68036364G>CCA381569406NDUFS8c.484G>C (p.Val162Leu)
c.416G>C
c.*539G>C (n.*539G>C)
c.46G>C (p.Val16Leu)
n.336G>C
c.364G>C (p.Val122Leu)
11g.68036364G=CA1980452010NDUFS8c.484G= (p.Val162=)
c.416G=
c.*539G= (n.*539G=)
c.46G= (p.Val16=)
n.336G=
c.364G= (p.Val122=)
11g.68036364G>TCA381569404NDUFS8c.484G>T (p.Val162Leu)
c.416G>T
c.*539G>T (n.*539G>T)
c.46G>T (p.Val16Leu)
n.336G>T
c.364G>T (p.Val122Leu)
11g.68036364_68036365insACCGACA2792527945NDUFS8c.484_485insACCGA (p.Val162AspfsTer?)
c.416_417insACCGA
c.*539_*540insACCGA (n.*539_*540insACCGA)
c.46_47insACCGA (p.Val16AspfsTer?)
n.336_337insACCGA
c.364_365insACCGA (p.Val122AspfsTer?)
11g.68036365T>ACA381569410NDUFS8c.485T>A (p.Val162Glu)
c.417T>A
c.*540T>A (n.*540T>A)
c.47T>A (p.Val16Glu)
n.337T>A
c.365T>A (p.Val122Glu)
11g.68036365T>CCA381569412NDUFS8c.485T>C (p.Val162Ala)
c.417T>C
c.*540T>C (n.*540T>C)
c.47T>C (p.Val16Ala)
n.337T>C
c.365T>C (p.Val122Ala)
11g.68036365T>GCA381569414NDUFS8c.485T>G (p.Val162Gly)
c.417T>G
c.*540T>G (n.*540T>G)
c.47T>G (p.Val16Gly)
n.337T>G
c.365T>G (p.Val122Gly)
11g.68036366G>ACA475442456NDUFS8c.486G>A (p.Val162=)
c.418G>A
c.*541G>A (n.*541G>A)
c.48G>A (p.Val16=)
n.338G>A
c.366G>A (p.Val122=)
 gnomAD v3 gnomAD v4
11g.68036366G>CCA475442458NDUFS8c.486G>C (p.Val162=)
c.418G>C
c.*541G>C (n.*541G>C)
c.48G>C (p.Val16=)
n.338G>C
c.366G>C (p.Val122=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68036366G=CA1980452014NDUFS8c.486G= (p.Val162=)
c.418G=
c.*541G= (n.*541G=)
c.48G= (p.Val16=)
n.338G=
c.366G= (p.Val122=)
11g.68036366G>TCA475442460NDUFS8c.486G>T (p.Val162=)
c.418G>T
c.*541G>T (n.*541G>T)
c.48G>T (p.Val16=)
n.338G>T
c.366G>T (p.Val122=)
11g.68036366_68036367insCCA2792527946NDUFS8c.486_487insC (p.Asp163ArgfsTer10)
c.418_419insC
c.*541_*542insC (n.*541_*542insC)
c.48_49insC (p.Asp17ArgfsTer10)
n.338_339insC
c.366_367insC (p.Asp123ArgfsTer10)
11g.68036367G>ACA381569416NDUFS8c.487G>A (p.Asp163Asn)
c.419G>A
c.*542G>A (n.*542G>A)
c.49G>A (p.Asp17Asn)
n.339G>A
c.367G>A (p.Asp123Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.68036367G>CCA381569417NDUFS8c.487G>C (p.Asp163His)
c.419G>C
c.*542G>C (n.*542G>C)
c.49G>C (p.Asp17His)
n.339G>C
c.367G>C (p.Asp123His)
 gnomAD v4
11g.68036367G=CA1980452019NDUFS8c.487G= (p.Asp163=)
c.419G=
c.*542G= (n.*542G=)
c.49G= (p.Asp17=)
n.339G=
c.367G= (p.Asp123=)
11g.68036367G>TCA381569419NDUFS8c.487G>T (p.Asp163Tyr)
c.419G>T
c.*542G>T (n.*542G>T)
c.49G>T (p.Asp17Tyr)
n.339G>T
c.367G>T (p.Asp123Tyr)
11g.68036368A>CCA381569421NDUFS8c.488A>C (p.Asp163Ala)
c.420A>C
c.*543A>C (n.*543A>C)
c.50A>C (p.Asp17Ala)
n.340A>C
c.368A>C (p.Asp123Ala)
11g.68036368A>GCA381569423NDUFS8c.488A>G (p.Asp163Gly)
c.420A>G
c.*543A>G (n.*543A>G)
c.50A>G (p.Asp17Gly)
n.340A>G
c.368A>G (p.Asp123Gly)

Number of alleles fetched