Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67610347_67610357dupCA2614647380NDUFV1c.511-34_511-24dup (n.511-34_511-24dup)
c.490-34_490-24dup (n.490-34_490-24dup)
n.253-34_253-24dup
n.370-34_370-24dup
c.475-34_475-24dup (n.475-34_475-24dup)
c.484-34_484-24dup (n.484-34_484-24dup)
c.394-34_394-24dup (n.394-34_394-24dup)
c.208-34_208-24dup (n.208-34_208-24dup)
 dbSNP gnomAD v4
11g.67610347_67610357delCA6143194NDUFV1c.511-34_511-24del (n.511-34_511-24del)
c.490-34_490-24del (n.490-34_490-24del)
n.253-34_253-24del
n.370-34_370-24del
c.475-34_475-24del (n.475-34_475-24del)
c.484-34_484-24del (n.484-34_484-24del)
c.394-34_394-24del (n.394-34_394-24del)
c.208-34_208-24del (n.208-34_208-24del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610356G>ACA6143200NDUFV1c.511-25G>A (n.511-25G>A)
c.490-25G>A (n.490-25G>A)
n.253-25G>A
n.370-25G>A
c.475-25G>A (n.475-25G>A)
c.484-25G>A (n.484-25G>A)
c.394-25G>A (n.394-25G>A)
c.208-25G>A (n.208-25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610356G=CA1980189677NDUFV1c.511-25G= (n.511-25G=)
c.490-25G= (n.490-25G=)
n.253-25G=
n.370-25G=
c.475-25G= (n.475-25G=)
c.484-25G= (n.484-25G=)
c.394-25G= (n.394-25G=)
c.208-25G= (n.208-25G=)
11g.67610361C=CA1980189681NDUFV1c.511-20C= (n.511-20C=)
c.490-20C= (n.490-20C=)
n.253-20C=
n.370-20C=
c.475-20C= (n.475-20C=)
c.484-20C= (n.484-20C=)
c.394-20C= (n.394-20C=)
c.208-20C= (n.208-20C=)
11g.67610361C>TCA6143201NDUFV1c.511-20C>T (n.511-20C>T)
c.490-20C>T (n.490-20C>T)
n.253-20C>T
n.370-20C>T
c.475-20C>T (n.475-20C>T)
c.484-20C>T (n.484-20C>T)
c.394-20C>T (n.394-20C>T)
c.208-20C>T (n.208-20C>T)
 dbSNP ExAC gnomAD v2
11g.67610362_67610363delCA2614647403NDUFV1c.511-19_511-18del (n.511-19_511-18del)
c.490-19_490-18del (n.490-19_490-18del)
n.253-19_253-18del
n.370-19_370-18del
c.475-19_475-18del (n.475-19_475-18del)
c.484-19_484-18del (n.484-19_484-18del)
c.394-19_394-18del (n.394-19_394-18del)
c.208-19_208-18del (n.208-19_208-18del)
 gnomAD v4
11g.67610362_67610364delinsTCACA1980189686NDUFV1c.511-19_511-17delinsTCA (n.511-19_511-17delinsTCA)
c.490-19_490-17delinsTCA (n.490-19_490-17delinsTCA)
n.253-19_253-17delinsTCA
n.370-19_370-17delinsTCA
c.475-19_475-17delinsTCA (n.475-19_475-17delinsTCA)
c.484-19_484-17delinsTCA (n.484-19_484-17delinsTCA)
c.394-19_394-17delinsTCA (n.394-19_394-17delinsTCA)
c.208-19_208-17delinsTCA (n.208-19_208-17delinsTCA)
11g.67610363C>TCA2574897636NDUFV1c.511-18C>T (n.511-18C>T)
c.490-18C>T (n.490-18C>T)
n.253-18C>T
n.370-18C>T
c.475-18C>T (n.475-18C>T)
c.484-18C>T (n.484-18C>T)
c.394-18C>T (n.394-18C>T)
c.208-18C>T (n.208-18C>T)
11g.67610366_67610367delCA679529951NDUFV1c.511-15_511-14del (n.511-15_511-14del)
c.490-15_490-14del (n.490-15_490-14del)
n.253-15_253-14del
n.370-15_370-14del
c.475-15_475-14del (n.475-15_475-14del)
c.484-15_484-14del (n.484-15_484-14del)
c.394-15_394-14del (n.394-15_394-14del)
c.208-15_208-14del (n.208-15_208-14del)
 ClinVar dbSNP gnomAD v4
11g.67610368_67610369insAACCACACCCA2574897637NDUFV1c.511-13_511-12insAACCACACC (n.511-13_511-12insAACCACACC)
c.490-13_490-12insAACCACACC (n.490-13_490-12insAACCACACC)
n.253-13_253-12insAACCACACC
n.370-13_370-12insAACCACACC
c.475-13_475-12insAACCACACC (n.475-13_475-12insAACCACACC)
c.484-13_484-12insAACCACACC (n.484-13_484-12insAACCACACC)
c.394-13_394-12insAACCACACC (n.394-13_394-12insAACCACACC)
c.208-13_208-12insAACCACACC (n.208-13_208-12insAACCACACC)
11g.67610365C=CA1980189690NDUFV1c.511-16C= (n.511-16C=)
c.490-16C= (n.490-16C=)
n.253-16C=
n.370-16C=
c.475-16C= (n.475-16C=)
c.484-16C= (n.484-16C=)
c.394-16C= (n.394-16C=)
c.208-16C= (n.208-16C=)
11g.67610365C>TCA6143202NDUFV1c.511-16C>T (n.511-16C>T)
c.490-16C>T (n.490-16C>T)
n.253-16C>T
n.370-16C>T
c.475-16C>T (n.475-16C>T)
c.484-16C>T (n.484-16C>T)
c.394-16C>T (n.394-16C>T)
c.208-16C>T (n.208-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610366A=CA1980189693NDUFV1c.511-15A= (n.511-15A=)
c.490-15A= (n.490-15A=)
n.253-15A=
n.370-15A=
c.475-15A= (n.475-15A=)
c.484-15A= (n.484-15A=)
c.394-15A= (n.394-15A=)
c.208-15A= (n.208-15A=)
11g.67610366A>GCA6143203NDUFV1c.511-15A>G (n.511-15A>G)
c.490-15A>G (n.490-15A>G)
n.253-15A>G
n.370-15A>G
c.475-15A>G (n.475-15A>G)
c.484-15A>G (n.484-15A>G)
c.394-15A>G (n.394-15A>G)
c.208-15A>G (n.208-15A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610367C>ACA2739270644NDUFV1c.511-14C>A (n.511-14C>A)
c.490-14C>A (n.490-14C>A)
n.253-14C>A
n.370-14C>A
c.475-14C>A (n.475-14C>A)
c.484-14C>A (n.484-14C>A)
c.394-14C>A (n.394-14C>A)
c.208-14C>A (n.208-14C>A)
 ClinVar
11g.67610367C>TCA2614647408NDUFV1c.511-14C>T (n.511-14C>T)
c.490-14C>T (n.490-14C>T)
n.253-14C>T
n.370-14C>T
c.475-14C>T (n.475-14C>T)
c.484-14C>T (n.484-14C>T)
c.394-14C>T (n.394-14C>T)
c.208-14C>T (n.208-14C>T)
 ClinVar gnomAD v4
11g.67610368C=CA1980189696NDUFV1c.511-13C= (n.511-13C=)
c.490-13C= (n.490-13C=)
n.253-13C=
n.370-13C=
c.475-13C= (n.475-13C=)
c.484-13C= (n.484-13C=)
c.394-13C= (n.394-13C=)
c.208-13C= (n.208-13C=)
11g.67610368C>GCA600237132NDUFV1c.511-13C>G (n.511-13C>G)
c.490-13C>G (n.490-13C>G)
n.253-13C>G
n.370-13C>G
c.475-13C>G (n.475-13C>G)
c.484-13C>G (n.484-13C>G)
c.394-13C>G (n.394-13C>G)
c.208-13C>G (n.208-13C>G)
 dbSNP gnomAD v2
11g.67610368C>TCA2574897638NDUFV1c.511-13C>T (n.511-13C>T)
c.490-13C>T (n.490-13C>T)
n.253-13C>T
n.370-13C>T
c.475-13C>T (n.475-13C>T)
c.484-13C>T (n.484-13C>T)
c.394-13C>T (n.394-13C>T)
c.208-13C>T (n.208-13C>T)
 gnomAD v4
11g.67610371delCA2614647409NDUFV1c.511-10del (n.511-10del)
c.490-10del (n.490-10del)
n.253-10del
n.370-10del
c.475-10del (n.475-10del)
c.484-10del (n.484-10del)
c.394-10del (n.394-10del)
c.208-10del (n.208-10del)
 gnomAD v4
11g.67610370T>CCA6143204NDUFV1c.511-11T>C (n.511-11T>C)
c.490-11T>C (n.490-11T>C)
n.253-11T>C
n.370-11T>C
c.475-11T>C (n.475-11T>C)
c.484-11T>C (n.484-11T>C)
c.394-11T>C (n.394-11T>C)
c.208-11T>C (n.208-11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610370T=CA1980189699NDUFV1c.511-11T= (n.511-11T=)
c.490-11T= (n.490-11T=)
n.253-11T=
n.370-11T=
c.475-11T= (n.475-11T=)
c.484-11T= (n.484-11T=)
c.394-11T= (n.394-11T=)
c.208-11T= (n.208-11T=)
11g.67610372G>ACA2574897639NDUFV1c.511-9G>A (n.511-9G>A)
c.490-9G>A (n.490-9G>A)
n.253-9G>A
n.370-9G>A
c.475-9G>A (n.475-9G>A)
c.484-9G>A (n.484-9G>A)
c.394-9G>A (n.394-9G>A)
c.208-9G>A (n.208-9G>A)
 gnomAD v4
11g.67610372G>TCA2739270645NDUFV1c.511-9G>T (n.511-9G>T)
c.490-9G>T (n.490-9G>T)
n.253-9G>T
n.370-9G>T
c.475-9G>T (n.475-9G>T)
c.484-9G>T (n.484-9G>T)
c.394-9G>T (n.394-9G>T)
c.208-9G>T (n.208-9G>T)
 ClinVar
11g.67610374C=CA1980189705NDUFV1c.511-7C= (n.511-7C=)
c.490-7C= (n.490-7C=)
n.253-7C=
n.370-7C=
c.475-7C= (n.475-7C=)
c.484-7C= (n.484-7C=)
c.394-7C= (n.394-7C=)
c.208-7C= (n.208-7C=)
11g.67610374C>GCA1980189708NDUFV1c.511-7C>G (n.511-7C>G)
c.490-7C>G (n.490-7C>G)
n.253-7C>G
n.370-7C>G
c.475-7C>G (n.475-7C>G)
c.484-7C>G (n.484-7C>G)
c.394-7C>G (n.394-7C>G)
c.208-7C>G (n.208-7C>G)
 dbSNP
11g.67610375C>TCA2614647411NDUFV1c.511-6C>T (n.511-6C>T)
c.490-6C>T (n.490-6C>T)
n.253-6C>T
n.370-6C>T
c.475-6C>T (n.475-6C>T)
c.484-6C>T (n.484-6C>T)
c.394-6C>T (n.394-6C>T)
c.208-6C>T (n.208-6C>T)
 gnomAD v4
11g.67610377G>ACA2614647413NDUFV1c.511-4G>A (n.511-4G>A)
c.490-4G>A (n.490-4G>A)
n.253-4G>A
n.370-4G>A
c.475-4G>A (n.475-4G>A)
c.484-4G>A (n.484-4G>A)
c.394-4G>A (n.394-4G>A)
c.208-4G>A (n.208-4G>A)
 gnomAD v4
11g.67610377G>CCA2614647414NDUFV1c.511-4G>C (n.511-4G>C)
c.490-4G>C (n.490-4G>C)
n.253-4G>C
n.370-4G>C
c.475-4G>C (n.475-4G>C)
c.484-4G>C (n.484-4G>C)
c.394-4G>C (n.394-4G>C)
c.208-4G>C (n.208-4G>C)
 gnomAD v4
11g.67610377G=CA1980189712NDUFV1c.511-4G= (n.511-4G=)
c.490-4G= (n.490-4G=)
n.253-4G=
n.370-4G=
c.475-4G= (n.475-4G=)
c.484-4G= (n.484-4G=)
c.394-4G= (n.394-4G=)
c.208-4G= (n.208-4G=)
11g.67610377G>TCA6143205NDUFV1c.511-4G>T (n.511-4G>T)
c.490-4G>T (n.490-4G>T)
n.253-4G>T
n.370-4G>T
c.475-4G>T (n.475-4G>T)
c.484-4G>T (n.484-4G>T)
c.394-4G>T (n.394-4G>T)
c.208-4G>T (n.208-4G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67610378C>TCA2614647415NDUFV1c.511-3C>T (n.511-3C>T)
c.490-3C>T (n.490-3C>T)
n.253-3C>T
n.370-3C>T
c.475-3C>T (n.475-3C>T)
c.484-3C>T (n.484-3C>T)
c.394-3C>T (n.394-3C>T)
c.208-3C>T (n.208-3C>T)
 gnomAD v4
11g.67610379A>CCA381536352NDUFV1c.511-2A>C (n.511-2A>C)
c.490-2A>C (n.490-2A>C)
n.253-2A>C
n.370-2A>C
c.475-2A>C (n.475-2A>C)
c.484-2A>C (n.484-2A>C)
c.394-2A>C (n.394-2A>C)
c.208-2A>C (n.208-2A>C)
11g.67610379A>GCA381536355NDUFV1c.511-2A>G (n.511-2A>G)
c.490-2A>G (n.490-2A>G)
n.253-2A>G
n.370-2A>G
c.475-2A>G (n.475-2A>G)
c.484-2A>G (n.484-2A>G)
c.394-2A>G (n.394-2A>G)
c.208-2A>G (n.208-2A>G)
11g.67610379A>TCA381536359NDUFV1c.511-2A>T (n.511-2A>T)
c.490-2A>T (n.490-2A>T)
n.253-2A>T
n.370-2A>T
c.475-2A>T (n.475-2A>T)
c.484-2A>T (n.484-2A>T)
c.394-2A>T (n.394-2A>T)
c.208-2A>T (n.208-2A>T)
11g.67610380G>ACA381536362NDUFV1c.511-1G>A (n.511-1G>A)
c.490-1G>A (n.490-1G>A)
n.253-1G>A
n.370-1G>A
c.475-1G>A (n.475-1G>A)
c.484-1G>A (n.484-1G>A)
c.394-1G>A (n.394-1G>A)
c.208-1G>A (n.208-1G>A)
11g.67610380G>CCA381536365NDUFV1c.511-1G>C (n.511-1G>C)
c.490-1G>C (n.490-1G>C)
n.253-1G>C
n.370-1G>C
c.475-1G>C (n.475-1G>C)
c.484-1G>C (n.484-1G>C)
c.394-1G>C (n.394-1G>C)
c.208-1G>C (n.208-1G>C)
11g.67610380G>TCA381536367NDUFV1c.511-1G>T (n.511-1G>T)
c.490-1G>T (n.490-1G>T)
n.253-1G>T
n.370-1G>T
c.475-1G>T (n.475-1G>T)
c.484-1G>T (n.484-1G>T)
c.394-1G>T (n.394-1G>T)
c.208-1G>T (n.208-1G>T)
11g.67610381G>ACA381536371NDUFV1c.511G>A (p.Val171Met)
c.490G>A (p.Val164Met)
n.253G>A
n.370G>A
c.475G>A (p.Val159Met)
c.484G>A (p.Val162Met)
c.394G>A (p.Val132Met)
c.208G>A (p.Val70Met)
 COSMIC
11g.67610381G>CCA381536373NDUFV1c.511G>C (p.Val171Leu)
c.490G>C (p.Val164Leu)
n.253G>C
n.370G>C
c.475G>C (p.Val159Leu)
c.484G>C (p.Val162Leu)
c.394G>C (p.Val132Leu)
c.208G>C (p.Val70Leu)
11g.67610381G>TCA381536376NDUFV1c.511G>T (p.Val171Leu)
c.490G>T (p.Val164Leu)
n.253G>T
n.370G>T
c.475G>T (p.Val159Leu)
c.484G>T (p.Val162Leu)
c.394G>T (p.Val132Leu)
c.208G>T (p.Val70Leu)
11g.67610382T>ACA381536381NDUFV1c.512T>A (p.Val171Glu)
c.491T>A (p.Val164Glu)
n.254T>A
n.371T>A
c.476T>A (p.Val159Glu)
c.485T>A (p.Val162Glu)
c.395T>A (p.Val132Glu)
c.209T>A (p.Val70Glu)
11g.67610382T>CCA381536383NDUFV1c.512T>C (p.Val171Ala)
c.491T>C (p.Val164Ala)
n.254T>C
n.371T>C
c.476T>C (p.Val159Ala)
c.485T>C (p.Val162Ala)
c.395T>C (p.Val132Ala)
c.209T>C (p.Val70Ala)
11g.67610382T>GCA381536385NDUFV1c.512T>G (p.Val171Gly)
c.491T>G (p.Val164Gly)
n.254T>G
n.371T>G
c.476T>G (p.Val159Gly)
c.485T>G (p.Val162Gly)
c.395T>G (p.Val132Gly)
c.209T>G (p.Val70Gly)
11g.67610383G>ACA475412068NDUFV1c.513G>A (p.Val171=)
c.492G>A (p.Val164=)
n.255G>A
n.372G>A
c.477G>A (p.Val159=)
c.486G>A (p.Val162=)
c.396G>A (p.Val132=)
c.210G>A (p.Val70=)
 dbSNP gnomAD v2 gnomAD v4
11g.67610383G>CCA475412063NDUFV1c.513G>C (p.Val171=)
c.492G>C (p.Val164=)
n.255G>C
n.372G>C
c.477G>C (p.Val159=)
c.486G>C (p.Val162=)
c.396G>C (p.Val132=)
c.210G>C (p.Val70=)
11g.67610383G=CA1980189715NDUFV1c.513G= (p.Val171=)
c.492G= (p.Val164=)
n.255G=
n.372G=
c.477G= (p.Val159=)
c.486G= (p.Val162=)
c.396G= (p.Val132=)
c.210G= (p.Val70=)
11g.67610383G>TCA475412065NDUFV1c.513G>T (p.Val171=)
c.492G>T (p.Val164=)
n.255G>T
n.372G>T
c.477G>T (p.Val159=)
c.486G>T (p.Val162=)
c.396G>T (p.Val132=)
c.210G>T (p.Val70=)
11g.67610384G>ACA381536394NDUFV1c.514G>A (p.Ala172Thr)
c.493G>A (p.Ala165Thr)
n.256G>A
n.373G>A
c.478G>A (p.Ala160Thr)
c.487G>A (p.Ala163Thr)
c.397G>A (p.Ala133Thr)
c.211G>A (p.Ala71Thr)
11g.67610384G>CCA381536393NDUFV1c.514G>C (p.Ala172Pro)
c.493G>C (p.Ala165Pro)
n.256G>C
n.373G>C
c.478G>C (p.Ala160Pro)
c.487G>C (p.Ala163Pro)
c.397G>C (p.Ala133Pro)
c.211G>C (p.Ala71Pro)
11g.67610384G>TCA381536390NDUFV1c.514G>T (p.Ala172Ser)
c.493G>T (p.Ala165Ser)
n.256G>T
n.373G>T
c.478G>T (p.Ala160Ser)
c.487G>T (p.Ala163Ser)
c.397G>T (p.Ala133Ser)
c.211G>T (p.Ala71Ser)
11g.67610385C>ACA381536404NDUFV1c.515C>A (p.Ala172Asp)
c.494C>A (p.Ala165Asp)
n.257C>A
n.374C>A
c.479C>A (p.Ala160Asp)
c.488C>A (p.Ala163Asp)
c.398C>A (p.Ala133Asp)
c.212C>A (p.Ala71Asp)
11g.67610385C=CA1980189719NDUFV1c.515C= (p.Ala172=)
c.494C= (p.Ala165=)
n.257C=
n.374C=
c.479C= (p.Ala160=)
c.488C= (p.Ala163=)
c.398C= (p.Ala133=)
c.212C= (p.Ala71=)
11g.67610385C>GCA381536398NDUFV1c.515C>G (p.Ala172Gly)
c.494C>G (p.Ala165Gly)
n.257C>G
n.374C>G
c.479C>G (p.Ala160Gly)
c.488C>G (p.Ala163Gly)
c.398C>G (p.Ala133Gly)
c.212C>G (p.Ala71Gly)
11g.67610385C>TCA381536401NDUFV1c.515C>T (p.Ala172Val)
c.494C>T (p.Ala165Val)
n.257C>T
n.374C>T
c.479C>T (p.Ala160Val)
c.488C>T (p.Ala163Val)
c.398C>T (p.Ala133Val)
c.212C>T (p.Ala71Val)
 dbSNP gnomAD v2 gnomAD v4
11g.67610386C>ACA475412084NDUFV1c.516C>A (p.Ala172=)
c.495C>A (p.Ala165=)
n.258C>A
n.375C>A
c.480C>A (p.Ala160=)
c.489C>A (p.Ala163=)
c.399C>A (p.Ala133=)
c.213C>A (p.Ala71=)
11g.67610386C=CA1980189721NDUFV1c.516C= (p.Ala172=)
c.495C= (p.Ala165=)
n.258C=
n.375C=
c.480C= (p.Ala160=)
c.489C= (p.Ala163=)
c.399C= (p.Ala133=)
c.213C= (p.Ala71=)
11g.67610386C>GCA475412082NDUFV1c.516C>G (p.Ala172=)
c.495C>G (p.Ala165=)
n.258C>G
n.375C>G
c.480C>G (p.Ala160=)
c.489C>G (p.Ala163=)
c.399C>G (p.Ala133=)
c.213C>G (p.Ala71=)
11g.67610386C>TCA6143206NDUFV1c.516C>T (p.Ala172=)
c.495C>T (p.Ala165=)
n.258C>T
n.375C>T
c.480C>T (p.Ala160=)
c.489C>T (p.Ala163=)
c.399C>T (p.Ala133=)
c.213C>T (p.Ala71=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610387A>CCA381536409NDUFV1c.517A>C (p.Ile173Leu)
c.496A>C (p.Ile166Leu)
n.259A>C
n.376A>C
c.481A>C (p.Ile161Leu)
c.490A>C (p.Ile164Leu)
c.400A>C (p.Ile134Leu)
c.214A>C (p.Ile72Leu)
11g.67610387A>GCA381536412NDUFV1c.517A>G (p.Ile173Val)
c.496A>G (p.Ile166Val)
n.259A>G
n.376A>G
c.481A>G (p.Ile161Val)
c.490A>G (p.Ile164Val)
c.400A>G (p.Ile134Val)
c.214A>G (p.Ile72Val)
11g.67610387A>TCA381536414NDUFV1c.517A>T (p.Ile173Phe)
c.496A>T (p.Ile166Phe)
n.259A>T
n.376A>T
c.481A>T (p.Ile161Phe)
c.490A>T (p.Ile164Phe)
c.400A>T (p.Ile134Phe)
c.214A>T (p.Ile72Phe)
11g.67610388T>ACA381536419NDUFV1c.518T>A (p.Ile173Asn)
c.497T>A (p.Ile166Asn)
n.260T>A
n.377T>A
c.482T>A (p.Ile161Asn)
c.491T>A (p.Ile164Asn)
c.401T>A (p.Ile134Asn)
c.215T>A (p.Ile72Asn)
 dbSNP
11g.67610388T>CCA381536421NDUFV1c.518T>C (p.Ile173Thr)
c.497T>C (p.Ile166Thr)
n.260T>C
n.377T>C
c.482T>C (p.Ile161Thr)
c.491T>C (p.Ile164Thr)
c.401T>C (p.Ile134Thr)
c.215T>C (p.Ile72Thr)
11g.67610388T>GCA381536424NDUFV1c.518T>G (p.Ile173Ser)
c.497T>G (p.Ile166Ser)
n.260T>G
n.377T>G
c.482T>G (p.Ile161Ser)
c.491T>G (p.Ile164Ser)
c.401T>G (p.Ile134Ser)
c.215T>G (p.Ile72Ser)
11g.67610388T=CA1980189724NDUFV1c.518T= (p.Ile173=)
c.497T= (p.Ile166=)
n.260T=
n.377T=
c.482T= (p.Ile161=)
c.491T= (p.Ile164=)
c.401T= (p.Ile134=)
c.215T= (p.Ile72=)
11g.67610389C>ACA475412096NDUFV1c.519C>A (p.Ile173=)
c.498C>A (p.Ile166=)
n.261C>A
n.378C>A
c.483C>A (p.Ile161=)
c.492C>A (p.Ile164=)
c.402C>A (p.Ile134=)
c.216C>A (p.Ile72=)
11g.67610389C=CA1980189726NDUFV1c.519C= (p.Ile173=)
c.498C= (p.Ile166=)
n.261C=
n.378C=
c.483C= (p.Ile161=)
c.492C= (p.Ile164=)
c.402C= (p.Ile134=)
c.216C= (p.Ile72=)
11g.67610389C>GCA381536426NDUFV1c.519C>G (p.Ile173Met)
c.498C>G (p.Ile166Met)
n.261C>G
n.378C>G
c.483C>G (p.Ile161Met)
c.492C>G (p.Ile164Met)
c.402C>G (p.Ile134Met)
c.216C>G (p.Ile72Met)
11g.67610389C>TCA475412099NDUFV1c.519C>T (p.Ile173=)
c.498C>T (p.Ile166=)
n.261C>T
n.378C>T
c.483C>T (p.Ile161=)
c.492C>T (p.Ile164=)
c.402C>T (p.Ile134=)
c.216C>T (p.Ile72=)
 ClinVar dbSNP
11g.67610390C>ACA475412104NDUFV1c.520C>A (p.Arg174=)
c.499C>A (p.Arg167=)
n.262C>A
n.379C>A
c.484C>A (p.Arg162=)
c.493C>A (p.Arg165=)
c.403C>A (p.Arg135=)
c.217C>A (p.Arg73=)
11g.67610390C=CA1980189735NDUFV1c.520C= (p.Arg174=)
c.499C= (p.Arg167=)
n.262C=
n.379C=
c.484C= (p.Arg162=)
c.493C= (p.Arg165=)
c.403C= (p.Arg135=)
c.217C= (p.Arg73=)
11g.67610390C>GCA381536430NDUFV1c.520C>G (p.Arg174Gly)
c.499C>G (p.Arg167Gly)
n.262C>G
n.379C>G
c.484C>G (p.Arg162Gly)
c.493C>G (p.Arg165Gly)
c.403C>G (p.Arg135Gly)
c.217C>G (p.Arg73Gly)
11g.67610390C>TCA224180083NDUFV1c.520C>T (p.Arg174Ter)
c.499C>T (p.Arg167Ter)
n.262C>T
n.379C>T
c.484C>T (p.Arg162Ter)
c.493C>T (p.Arg165Ter)
c.403C>T (p.Arg135Ter)
c.217C>T (p.Arg73Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610391G>ACA381536439NDUFV1c.521G>A (p.Arg174Gln)
c.500G>A (p.Arg167Gln)
n.263G>A
n.380G>A
c.485G>A (p.Arg162Gln)
c.494G>A (p.Arg165Gln)
c.404G>A (p.Arg135Gln)
c.218G>A (p.Arg73Gln)
 ClinVar dbSNP gnomAD v4
11g.67610391G>CCA381536442NDUFV1c.521G>C (p.Arg174Pro)
c.500G>C (p.Arg167Pro)
n.263G>C
n.380G>C
c.485G>C (p.Arg162Pro)
c.494G>C (p.Arg165Pro)
c.404G>C (p.Arg135Pro)
c.218G>C (p.Arg73Pro)
11g.67610391G=CA1980189741NDUFV1c.521G= (p.Arg174=)
c.500G= (p.Arg167=)
n.263G=
n.380G=
c.485G= (p.Arg162=)
c.494G= (p.Arg165=)
c.404G= (p.Arg135=)
c.218G= (p.Arg73=)
11g.67610391G>TCA381536436NDUFV1c.521G>T (p.Arg174Leu)
c.500G>T (p.Arg167Leu)
n.263G>T
n.380G>T
c.485G>T (p.Arg162Leu)
c.494G>T (p.Arg165Leu)
c.404G>T (p.Arg135Leu)
c.218G>T (p.Arg73Leu)
11g.67610392A>CCA475412112NDUFV1c.522A>C (p.Arg174=)
c.501A>C (p.Arg167=)
n.264A>C
n.381A>C
c.486A>C (p.Arg162=)
c.495A>C (p.Arg165=)
c.405A>C (p.Arg135=)
c.219A>C (p.Arg73=)
11g.67610392A>GCA475412114NDUFV1c.522A>G (p.Arg174=)
c.501A>G (p.Arg167=)
n.264A>G
n.381A>G
c.486A>G (p.Arg162=)
c.495A>G (p.Arg165=)
c.405A>G (p.Arg135=)
c.219A>G (p.Arg73=)
11g.67610392A>TCA475412117NDUFV1c.522A>T (p.Arg174=)
c.501A>T (p.Arg167=)
n.264A>T
n.381A>T
c.486A>T (p.Arg162=)
c.495A>T (p.Arg165=)
c.405A>T (p.Arg135=)
c.219A>T (p.Arg73=)
11g.67610393G>ACA381536446NDUFV1c.523G>A (p.Glu175Lys)
c.502G>A (p.Glu168Lys)
n.265G>A
n.382G>A
c.487G>A (p.Glu163Lys)
c.496G>A (p.Glu166Lys)
c.406G>A (p.Glu136Lys)
c.220G>A (p.Glu74Lys)
c.1G>A (p.Glu1Lys)
11g.67610393G>CCA381536448NDUFV1c.523G>C (p.Glu175Gln)
c.502G>C (p.Glu168Gln)
n.265G>C
n.382G>C
c.487G>C (p.Glu163Gln)
c.496G>C (p.Glu166Gln)
c.406G>C (p.Glu136Gln)
c.220G>C (p.Glu74Gln)
c.1G>C (p.Glu1Gln)
11g.67610393G>TCA381536451NDUFV1c.523G>T (p.Glu175Ter)
c.502G>T (p.Glu168Ter)
n.265G>T
n.382G>T
c.487G>T (p.Glu163Ter)
c.496G>T (p.Glu166Ter)
c.406G>T (p.Glu136Ter)
c.220G>T (p.Glu74Ter)
c.1G>T (p.Glu1Ter)
11g.67610394A>CCA381536454NDUFV1c.524A>C (p.Glu175Ala)
c.503A>C (p.Glu168Ala)
n.266A>C
n.383A>C
c.488A>C (p.Glu163Ala)
c.497A>C (p.Glu166Ala)
c.407A>C (p.Glu136Ala)
c.221A>C (p.Glu74Ala)
c.2A>C (p.Glu1Ala)
11g.67610394A>GCA381536456NDUFV1c.524A>G (p.Glu175Gly)
c.503A>G (p.Glu168Gly)
n.266A>G
n.383A>G
c.488A>G (p.Glu163Gly)
c.497A>G (p.Glu166Gly)
c.407A>G (p.Glu136Gly)
c.221A>G (p.Glu74Gly)
c.2A>G (p.Glu1Gly)
 gnomAD v4
11g.67610394A>TCA381536458NDUFV1c.524A>T (p.Glu175Val)
c.503A>T (p.Glu168Val)
n.266A>T
n.383A>T
c.488A>T (p.Glu163Val)
c.497A>T (p.Glu166Val)
c.407A>T (p.Glu136Val)
c.221A>T (p.Glu74Val)
c.2A>T (p.Glu1Val)
11g.67610395G>ACA475412130NDUFV1c.525G>A (p.Glu175=)
c.504G>A (p.Glu168=)
n.267G>A
n.384G>A
c.489G>A (p.Glu163=)
c.498G>A (p.Glu166=)
c.408G>A (p.Glu136=)
c.222G>A (p.Glu74=)
c.3G>A (p.Glu1=)
 ClinVar dbSNP
11g.67610395G>CCA381536461NDUFV1c.525G>C (p.Glu175Asp)
c.504G>C (p.Glu168Asp)
n.267G>C
n.384G>C
c.489G>C (p.Glu163Asp)
c.498G>C (p.Glu166Asp)
c.408G>C (p.Glu136Asp)
c.222G>C (p.Glu74Asp)
c.3G>C (p.Glu1Asp)
11g.67610395G=CA1980189748NDUFV1c.525G= (p.Glu175=)
c.504G= (p.Glu168=)
n.267G=
n.384G=
c.489G= (p.Glu163=)
c.498G= (p.Glu166=)
c.408G= (p.Glu136=)
c.222G= (p.Glu74=)
c.3G= (p.Glu1=)
11g.67610395G>TCA381536466NDUFV1c.525G>T (p.Glu175Asp)
c.504G>T (p.Glu168Asp)
n.267G>T
n.384G>T
c.489G>T (p.Glu163Asp)
c.498G>T (p.Glu166Asp)
c.408G>T (p.Glu136Asp)
c.222G>T (p.Glu74Asp)
c.3G>T (p.Glu1Asp)
11g.67610396G>ACA381536469NDUFV1c.526G>A (p.Ala176Thr)
c.505G>A (p.Ala169Thr)
n.268G>A
n.385G>A
c.490G>A (p.Ala164Thr)
c.499G>A (p.Ala167Thr)
c.409G>A (p.Ala137Thr)
c.223G>A (p.Ala75Thr)
c.4G>A (p.Ala2Thr)
 gnomAD v4 COSMIC
11g.67610396G>CCA381536472NDUFV1c.526G>C (p.Ala176Pro)
c.505G>C (p.Ala169Pro)
n.268G>C
n.385G>C
c.490G>C (p.Ala164Pro)
c.499G>C (p.Ala167Pro)
c.409G>C (p.Ala137Pro)
c.223G>C (p.Ala75Pro)
c.4G>C (p.Ala2Pro)
11g.67610396G>TCA381536474NDUFV1c.526G>T (p.Ala176Ser)
c.505G>T (p.Ala169Ser)
n.268G>T
n.385G>T
c.490G>T (p.Ala164Ser)
c.499G>T (p.Ala167Ser)
c.409G>T (p.Ala137Ser)
c.223G>T (p.Ala75Ser)
c.4G>T (p.Ala2Ser)
11g.67610397C>ACA381536478NDUFV1c.527C>A (p.Ala176Asp)
c.506C>A (p.Ala169Asp)
n.269C>A
n.386C>A
c.491C>A (p.Ala164Asp)
c.500C>A (p.Ala167Asp)
c.410C>A (p.Ala137Asp)
c.224C>A (p.Ala75Asp)
c.5C>A (p.Ala2Asp)
 gnomAD v4
11g.67610397C=CA1980189751NDUFV1c.527C= (p.Ala176=)
c.506C= (p.Ala169=)
n.269C=
n.386C=
c.491C= (p.Ala164=)
c.500C= (p.Ala167=)
c.410C= (p.Ala137=)
c.224C= (p.Ala75=)
c.5C= (p.Ala2=)
11g.67610397C>GCA381536480NDUFV1c.527C>G (p.Ala176Gly)
c.506C>G (p.Ala169Gly)
n.269C>G
n.386C>G
c.491C>G (p.Ala164Gly)
c.500C>G (p.Ala167Gly)
c.410C>G (p.Ala137Gly)
c.224C>G (p.Ala75Gly)
c.5C>G (p.Ala2Gly)
11g.67610397C>TCA381536483NDUFV1c.527C>T (p.Ala176Val)
c.506C>T (p.Ala169Val)
n.269C>T
n.386C>T
c.491C>T (p.Ala164Val)
c.500C>T (p.Ala167Val)
c.410C>T (p.Ala137Val)
c.224C>T (p.Ala75Val)
c.5C>T (p.Ala2Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610398C>ACA475412141NDUFV1c.528C>A (p.Ala176=)
c.507C>A (p.Ala169=)
n.270C>A
n.387C>A
c.492C>A (p.Ala164=)
c.501C>A (p.Ala167=)
c.411C>A (p.Ala137=)
c.225C>A (p.Ala75=)
c.6C>A (p.Ala2=)
11g.67610398C>GCA475412144NDUFV1c.528C>G (p.Ala176=)
c.507C>G (p.Ala169=)
n.270C>G
n.387C>G
c.492C>G (p.Ala164=)
c.501C>G (p.Ala167=)
c.411C>G (p.Ala137=)
c.225C>G (p.Ala75=)
c.6C>G (p.Ala2=)
11g.67610398C>TCA475412146NDUFV1c.528C>T (p.Ala176=)
c.507C>T (p.Ala169=)
n.270C>T
n.387C>T
c.492C>T (p.Ala164=)
c.501C>T (p.Ala167=)
c.411C>T (p.Ala137=)
c.225C>T (p.Ala75=)
c.6C>T (p.Ala2=)
11g.67610399T>ACA381536489NDUFV1c.529T>A (p.Tyr177Asn)
c.508T>A (p.Tyr170Asn)
n.271T>A
n.388T>A
c.493T>A (p.Tyr165Asn)
c.502T>A (p.Tyr168Asn)
c.412T>A (p.Tyr138Asn)
c.226T>A (p.Tyr76Asn)
c.7T>A (p.Tyr3Asn)
11g.67610399T>CCA224180089NDUFV1c.529T>C (p.Tyr177His)
c.508T>C (p.Tyr170His)
n.271T>C
n.388T>C
c.493T>C (p.Tyr165His)
c.502T>C (p.Tyr168His)
c.412T>C (p.Tyr138His)
c.226T>C (p.Tyr76His)
c.7T>C (p.Tyr3His)
 dbSNP gnomAD v3 gnomAD v4
11g.67610399T>GCA381536487NDUFV1c.529T>G (p.Tyr177Asp)
c.508T>G (p.Tyr170Asp)
n.271T>G
n.388T>G
c.493T>G (p.Tyr165Asp)
c.502T>G (p.Tyr168Asp)
c.412T>G (p.Tyr138Asp)
c.226T>G (p.Tyr76Asp)
c.7T>G (p.Tyr3Asp)
11g.67610399T=CA1980189755NDUFV1c.529T= (p.Tyr177=)
c.508T= (p.Tyr170=)
n.271T=
n.388T=
c.493T= (p.Tyr165=)
c.502T= (p.Tyr168=)
c.412T= (p.Tyr138=)
c.226T= (p.Tyr76=)
c.7T= (p.Tyr3=)
11g.67610400A=CA1980189759NDUFV1c.530A= (p.Tyr177=)
c.509A= (p.Tyr170=)
n.272A=
n.389A=
c.494A= (p.Tyr165=)
c.503A= (p.Tyr168=)
c.413A= (p.Tyr138=)
c.227A= (p.Tyr76=)
c.8A= (p.Tyr3=)
11g.67610400A>CCA381536493NDUFV1c.530A>C (p.Tyr177Ser)
c.509A>C (p.Tyr170Ser)
n.272A>C
n.389A>C
c.494A>C (p.Tyr165Ser)
c.503A>C (p.Tyr168Ser)
c.413A>C (p.Tyr138Ser)
c.227A>C (p.Tyr76Ser)
c.8A>C (p.Tyr3Ser)
11g.67610400A>GCA6143207NDUFV1c.530A>G (p.Tyr177Cys)
c.509A>G (p.Tyr170Cys)
n.272A>G
n.389A>G
c.494A>G (p.Tyr165Cys)
c.503A>G (p.Tyr168Cys)
c.413A>G (p.Tyr138Cys)
c.227A>G (p.Tyr76Cys)
c.8A>G (p.Tyr3Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610400A>TCA381536494NDUFV1c.530A>T (p.Tyr177Phe)
c.509A>T (p.Tyr170Phe)
n.272A>T
n.389A>T
c.494A>T (p.Tyr165Phe)
c.503A>T (p.Tyr168Phe)
c.413A>T (p.Tyr138Phe)
c.227A>T (p.Tyr76Phe)
c.8A>T (p.Tyr3Phe)
11g.67610401T>ACA381536501NDUFV1c.531T>A (p.Tyr177Ter)
c.510T>A (p.Tyr170Ter)
n.273T>A
n.390T>A
c.495T>A (p.Tyr165Ter)
c.504T>A (p.Tyr168Ter)
c.414T>A (p.Tyr138Ter)
c.228T>A (p.Tyr76Ter)
c.9T>A (p.Tyr3Ter)
11g.67610401T>CCA475412161NDUFV1c.531T>C (p.Tyr177=)
c.510T>C (p.Tyr170=)
n.273T>C
n.390T>C
c.495T>C (p.Tyr165=)
c.504T>C (p.Tyr168=)
c.414T>C (p.Tyr138=)
c.228T>C (p.Tyr76=)
c.9T>C (p.Tyr3=)
11g.67610401T>GCA381536503NDUFV1c.531T>G (p.Tyr177Ter)
c.510T>G (p.Tyr170Ter)
n.273T>G
n.390T>G
c.495T>G (p.Tyr165Ter)
c.504T>G (p.Tyr168Ter)
c.414T>G (p.Tyr138Ter)
c.228T>G (p.Tyr76Ter)
c.9T>G (p.Tyr3Ter)
11g.67610402G>ACA381536507NDUFV1c.532G>A (p.Glu178Lys)
c.511G>A (p.Glu171Lys)
n.274G>A
n.391G>A
c.496G>A (p.Glu166Lys)
c.505G>A (p.Glu169Lys)
c.415G>A (p.Glu139Lys)
c.229G>A (p.Glu77Lys)
c.10G>A (p.Glu4Lys)
11g.67610402G>CCA381536510NDUFV1c.532G>C (p.Glu178Gln)
c.511G>C (p.Glu171Gln)
n.274G>C
n.391G>C
c.496G>C (p.Glu166Gln)
c.505G>C (p.Glu169Gln)
c.415G>C (p.Glu139Gln)
c.229G>C (p.Glu77Gln)
c.10G>C (p.Glu4Gln)
11g.67610402G>TCA381536513NDUFV1c.532G>T (p.Glu178Ter)
c.511G>T (p.Glu171Ter)
n.274G>T
n.391G>T
c.496G>T (p.Glu166Ter)
c.505G>T (p.Glu169Ter)
c.415G>T (p.Glu139Ter)
c.229G>T (p.Glu77Ter)
c.10G>T (p.Glu4Ter)
11g.67610403A>CCA381536517NDUFV1c.533A>C (p.Glu178Ala)
c.512A>C (p.Glu171Ala)
n.275A>C
n.392A>C
c.497A>C (p.Glu166Ala)
c.506A>C (p.Glu169Ala)
c.416A>C (p.Glu139Ala)
c.230A>C (p.Glu77Ala)
c.11A>C (p.Glu4Ala)
11g.67610403A>GCA381536519NDUFV1c.533A>G (p.Glu178Gly)
c.512A>G (p.Glu171Gly)
n.275A>G
n.392A>G
c.497A>G (p.Glu166Gly)
c.506A>G (p.Glu169Gly)
c.416A>G (p.Glu139Gly)
c.230A>G (p.Glu77Gly)
c.11A>G (p.Glu4Gly)
11g.67610403A>TCA381536522NDUFV1c.533A>T (p.Glu178Val)
c.512A>T (p.Glu171Val)
n.275A>T
n.392A>T
c.497A>T (p.Glu166Val)
c.506A>T (p.Glu169Val)
c.416A>T (p.Glu139Val)
c.230A>T (p.Glu77Val)
c.11A>T (p.Glu4Val)
11g.67610404G>ACA475412176NDUFV1c.534G>A (p.Glu178=)
c.513G>A (p.Glu171=)
n.276G>A
n.393G>A
c.498G>A (p.Glu166=)
c.507G>A (p.Glu169=)
c.417G>A (p.Glu139=)
c.231G>A (p.Glu77=)
c.12G>A (p.Glu4=)
11g.67610404G>CCA381536525NDUFV1c.534G>C (p.Glu178Asp)
c.513G>C (p.Glu171Asp)
n.276G>C
n.393G>C
c.498G>C (p.Glu166Asp)
c.507G>C (p.Glu169Asp)
c.417G>C (p.Glu139Asp)
c.231G>C (p.Glu77Asp)
c.12G>C (p.Glu4Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.67610404G=CA1980189768NDUFV1c.534G= (p.Glu178=)
c.513G= (p.Glu171=)
n.276G=
n.393G=
c.498G= (p.Glu166=)
c.507G= (p.Glu169=)
c.417G= (p.Glu139=)
c.231G= (p.Glu77=)
c.12G= (p.Glu4=)
11g.67610404G>TCA381536527NDUFV1c.534G>T (p.Glu178Asp)
c.513G>T (p.Glu171Asp)
n.276G>T
n.393G>T
c.498G>T (p.Glu166Asp)
c.507G>T (p.Glu169Asp)
c.417G>T (p.Glu139Asp)
c.231G>T (p.Glu77Asp)
c.12G>T (p.Glu4Asp)
11g.67610405G>ACA381536535NDUFV1c.535G>A (p.Ala179Thr)
c.514G>A (p.Ala172Thr)
n.277G>A
n.394G>A
c.499G>A (p.Ala167Thr)
c.508G>A (p.Ala170Thr)
c.418G>A (p.Ala140Thr)
c.232G>A (p.Ala78Thr)
c.13G>A (p.Ala5Thr)
11g.67610405G>CCA381536533NDUFV1c.535G>C (p.Ala179Pro)
c.514G>C (p.Ala172Pro)
n.277G>C
n.394G>C
c.499G>C (p.Ala167Pro)
c.508G>C (p.Ala170Pro)
c.418G>C (p.Ala140Pro)
c.232G>C (p.Ala78Pro)
c.13G>C (p.Ala5Pro)
11g.67610405G>TCA381536531NDUFV1c.535G>T (p.Ala179Ser)
c.514G>T (p.Ala172Ser)
n.277G>T
n.394G>T
c.499G>T (p.Ala167Ser)
c.508G>T (p.Ala170Ser)
c.418G>T (p.Ala140Ser)
c.232G>T (p.Ala78Ser)
c.13G>T (p.Ala5Ser)
11g.67610406C>ACA381536538NDUFV1c.536C>A (p.Ala179Glu)
c.515C>A (p.Ala172Glu)
n.278C>A
n.395C>A
c.500C>A (p.Ala167Glu)
c.509C>A (p.Ala170Glu)
c.419C>A (p.Ala140Glu)
c.233C>A (p.Ala78Glu)
c.14C>A (p.Ala5Glu)
 gnomAD v4
11g.67610406C=CA1980189771NDUFV1c.536C= (p.Ala179=)
c.515C= (p.Ala172=)
n.278C=
n.395C=
c.500C= (p.Ala167=)
c.509C= (p.Ala170=)
c.419C= (p.Ala140=)
c.233C= (p.Ala78=)
c.14C= (p.Ala5=)
11g.67610406C>GCA381536540NDUFV1c.536C>G (p.Ala179Gly)
c.515C>G (p.Ala172Gly)
n.278C>G
n.395C>G
c.500C>G (p.Ala167Gly)
c.509C>G (p.Ala170Gly)
c.419C>G (p.Ala140Gly)
c.233C>G (p.Ala78Gly)
c.14C>G (p.Ala5Gly)
 dbSNP
11g.67610406C>TCA381536542NDUFV1c.536C>T (p.Ala179Val)
c.515C>T (p.Ala172Val)
n.278C>T
n.395C>T
c.500C>T (p.Ala167Val)
c.509C>T (p.Ala170Val)
c.419C>T (p.Ala140Val)
c.233C>T (p.Ala78Val)
c.14C>T (p.Ala5Val)
 gnomAD v4
11g.67610407A>CCA475412188NDUFV1c.537A>C (p.Ala179=)
c.516A>C (p.Ala172=)
n.279A>C
n.396A>C
c.501A>C (p.Ala167=)
c.510A>C (p.Ala170=)
c.420A>C (p.Ala140=)
c.234A>C (p.Ala78=)
c.15A>C (p.Ala5=)
11g.67610407A>GCA475412190NDUFV1c.537A>G (p.Ala179=)
c.516A>G (p.Ala172=)
n.279A>G
n.396A>G
c.501A>G (p.Ala167=)
c.510A>G (p.Ala170=)
c.420A>G (p.Ala140=)
c.234A>G (p.Ala78=)
c.15A>G (p.Ala5=)
 gnomAD v4
11g.67610407A>TCA475412193NDUFV1c.537A>T (p.Ala179=)
c.516A>T (p.Ala172=)
n.279A>T
n.396A>T
c.501A>T (p.Ala167=)
c.510A>T (p.Ala170=)
c.420A>T (p.Ala140=)
c.234A>T (p.Ala78=)
c.15A>T (p.Ala5=)
 gnomAD v4
11g.67610408G>ACA381536545NDUFV1c.538G>A (p.Gly180Ser)
c.517G>A (p.Gly173Ser)
n.280G>A
n.397G>A
c.502G>A (p.Gly168Ser)
c.511G>A (p.Gly171Ser)
c.421G>A (p.Gly141Ser)
c.235G>A (p.Gly79Ser)
c.16G>A (p.Gly6Ser)
 gnomAD v4
11g.67610408G>CCA381536547NDUFV1c.538G>C (p.Gly180Arg)
c.517G>C (p.Gly173Arg)
n.280G>C
n.397G>C
c.502G>C (p.Gly168Arg)
c.511G>C (p.Gly171Arg)
c.421G>C (p.Gly141Arg)
c.235G>C (p.Gly79Arg)
c.16G>C (p.Gly6Arg)
11g.67610408G>TCA381536549NDUFV1c.538G>T (p.Gly180Cys)
c.517G>T (p.Gly173Cys)
n.280G>T
n.397G>T
c.502G>T (p.Gly168Cys)
c.511G>T (p.Gly171Cys)
c.421G>T (p.Gly141Cys)
c.235G>T (p.Gly79Cys)
c.16G>T (p.Gly6Cys)
 COSMIC
11g.67610409G>ACA381536551NDUFV1c.539G>A (p.Gly180Asp)
c.518G>A (p.Gly173Asp)
n.281G>A
n.398G>A
c.503G>A (p.Gly168Asp)
c.512G>A (p.Gly171Asp)
c.422G>A (p.Gly141Asp)
c.236G>A (p.Gly79Asp)
c.17G>A (p.Gly6Asp)
11g.67610409G>CCA381536553NDUFV1c.539G>C (p.Gly180Ala)
c.518G>C (p.Gly173Ala)
n.281G>C
n.398G>C
c.503G>C (p.Gly168Ala)
c.512G>C (p.Gly171Ala)
c.422G>C (p.Gly141Ala)
c.236G>C (p.Gly79Ala)
c.17G>C (p.Gly6Ala)
11g.67610409G=CA1980189774NDUFV1c.539G= (p.Gly180=)
c.518G= (p.Gly173=)
n.281G=
n.398G=
c.503G= (p.Gly168=)
c.512G= (p.Gly171=)
c.422G= (p.Gly141=)
c.236G= (p.Gly79=)
c.17G= (p.Gly6=)
11g.67610409G>TCA6143208NDUFV1c.539G>T (p.Gly180Val)
c.518G>T (p.Gly173Val)
n.281G>T
n.398G>T
c.503G>T (p.Gly168Val)
c.512G>T (p.Gly171Val)
c.422G>T (p.Gly141Val)
c.236G>T (p.Gly79Val)
c.17G>T (p.Gly6Val)
 dbSNP ExAC gnomAD v2
11g.67610410delCA2614647427NDUFV1c.540del (p.Leu181Ter)
c.519del (p.Leu174Ter)
n.282del
n.399del
c.504del (p.Leu169Ter)
c.513del (p.Leu172Ter)
c.423del (p.Leu142Ter)
c.237del (p.Leu80Ter)
c.18del (p.Leu7Ter)
 gnomAD v4
11g.67610410T>ACA475412212NDUFV1c.540T>A (p.Gly180=)
c.519T>A (p.Gly173=)
n.282T>A
n.399T>A
c.504T>A (p.Gly168=)
c.513T>A (p.Gly171=)
c.423T>A (p.Gly141=)
c.237T>A (p.Gly79=)
c.18T>A (p.Gly6=)
11g.67610410T>CCA475412210NDUFV1c.540T>C (p.Gly180=)
c.519T>C (p.Gly173=)
n.282T>C
n.399T>C
c.504T>C (p.Gly168=)
c.513T>C (p.Gly171=)
c.423T>C (p.Gly141=)
c.237T>C (p.Gly79=)
c.18T>C (p.Gly6=)
11g.67610410T>GCA475412207NDUFV1c.540T>G (p.Gly180=)
c.519T>G (p.Gly173=)
n.282T>G
n.399T>G
c.504T>G (p.Gly168=)
c.513T>G (p.Gly171=)
c.423T>G (p.Gly141=)
c.237T>G (p.Gly79=)
c.18T>G (p.Gly6=)
11g.67610411C>ACA381536557NDUFV1c.541C>A (p.Leu181Met)
c.520C>A (p.Leu174Met)
n.283C>A
n.400C>A
c.505C>A (p.Leu169Met)
c.514C>A (p.Leu172Met)
c.424C>A (p.Leu142Met)
c.238C>A (p.Leu80Met)
c.19C>A (p.Leu7Met)
 gnomAD v4
11g.67610411C=CA1980189781NDUFV1c.541C= (p.Leu181=)
c.520C= (p.Leu174=)
n.283C=
n.400C=
c.505C= (p.Leu169=)
c.514C= (p.Leu172=)
c.424C= (p.Leu142=)
c.238C= (p.Leu80=)
c.19C= (p.Leu7=)
11g.67610411C>GCA381536560NDUFV1c.541C>G (p.Leu181Val)
c.520C>G (p.Leu174Val)
n.283C>G
n.400C>G
c.505C>G (p.Leu169Val)
c.514C>G (p.Leu172Val)
c.424C>G (p.Leu142Val)
c.238C>G (p.Leu80Val)
c.19C>G (p.Leu7Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67610411C>TCA475412219NDUFV1c.541C>T (p.Leu181=)
c.520C>T (p.Leu174=)
n.283C>T
n.400C>T
c.505C>T (p.Leu169=)
c.514C>T (p.Leu172=)
c.424C>T (p.Leu142=)
c.238C>T (p.Leu80=)
c.19C>T (p.Leu7=)
11g.67610412T>ACA381536565NDUFV1c.542T>A (p.Leu181Gln)
c.521T>A (p.Leu174Gln)
n.284T>A
n.401T>A
c.506T>A (p.Leu169Gln)
c.515T>A (p.Leu172Gln)
c.425T>A (p.Leu142Gln)
c.239T>A (p.Leu80Gln)
c.20T>A (p.Leu7Gln)
11g.67610412T>CCA381536568NDUFV1c.542T>C (p.Leu181Pro)
c.521T>C (p.Leu174Pro)
n.284T>C
n.401T>C
c.506T>C (p.Leu169Pro)
c.515T>C (p.Leu172Pro)
c.425T>C (p.Leu142Pro)
c.239T>C (p.Leu80Pro)
c.20T>C (p.Leu7Pro)
11g.67610412T>GCA381536562NDUFV1c.542T>G (p.Leu181Arg)
c.521T>G (p.Leu174Arg)
n.284T>G
n.401T>G
c.506T>G (p.Leu169Arg)
c.515T>G (p.Leu172Arg)
c.425T>G (p.Leu142Arg)
c.239T>G (p.Leu80Arg)
c.20T>G (p.Leu7Arg)
11g.67610413G>ACA475412228NDUFV1c.543G>A (p.Leu181=)
c.522G>A (p.Leu174=)
n.285G>A
n.402G>A
c.507G>A (p.Leu169=)
c.516G>A (p.Leu172=)
c.426G>A (p.Leu142=)
c.240G>A (p.Leu80=)
c.21G>A (p.Leu7=)
 ClinVar
11g.67610413G>CCA6143209NDUFV1c.543G>C (p.Leu181=)
c.522G>C (p.Leu174=)
n.285G>C
n.402G>C
c.507G>C (p.Leu169=)
c.516G>C (p.Leu172=)
c.426G>C (p.Leu142=)
c.240G>C (p.Leu80=)
c.21G>C (p.Leu7=)
 dbSNP ExAC gnomAD v2
11g.67610413G=CA1980189784NDUFV1c.543G= (p.Leu181=)
c.522G= (p.Leu174=)
n.285G=
n.402G=
c.507G= (p.Leu169=)
c.516G= (p.Leu172=)
c.426G= (p.Leu142=)
c.240G= (p.Leu80=)
c.21G= (p.Leu7=)
11g.67610413G>TCA475412233NDUFV1c.543G>T (p.Leu181=)
c.522G>T (p.Leu174=)
n.285G>T
n.402G>T
c.507G>T (p.Leu169=)
c.516G>T (p.Leu172=)
c.426G>T (p.Leu142=)
c.240G>T (p.Leu80=)
c.21G>T (p.Leu7=)
11g.67610414A>CCA381536572NDUFV1c.544A>C (p.Ile182Leu)
c.523A>C (p.Ile175Leu)
n.286A>C
n.403A>C
c.508A>C (p.Ile170Leu)
c.517A>C (p.Ile173Leu)
c.427A>C (p.Ile143Leu)
c.241A>C (p.Ile81Leu)
c.22A>C (p.Ile8Leu)
 gnomAD v4
11g.67610414A>GCA381536573NDUFV1c.544A>G (p.Ile182Val)
c.523A>G (p.Ile175Val)
n.286A>G
n.403A>G
c.508A>G (p.Ile170Val)
c.517A>G (p.Ile173Val)
c.427A>G (p.Ile143Val)
c.241A>G (p.Ile81Val)
c.22A>G (p.Ile8Val)
 gnomAD v4
11g.67610414A>TCA381536575NDUFV1c.544A>T (p.Ile182Phe)
c.523A>T (p.Ile175Phe)
n.286A>T
n.403A>T
c.508A>T (p.Ile170Phe)
c.517A>T (p.Ile173Phe)
c.427A>T (p.Ile143Phe)
c.241A>T (p.Ile81Phe)
c.22A>T (p.Ile8Phe)
11g.67610415T>ACA381536580NDUFV1c.545T>A (p.Ile182Asn)
c.524T>A (p.Ile175Asn)
n.287T>A
n.404T>A
c.509T>A (p.Ile170Asn)
c.518T>A (p.Ile173Asn)
c.428T>A (p.Ile143Asn)
c.242T>A (p.Ile81Asn)
c.23T>A (p.Ile8Asn)
11g.67610415T>CCA381536582NDUFV1c.545T>C (p.Ile182Thr)
c.524T>C (p.Ile175Thr)
n.287T>C
n.404T>C
c.509T>C (p.Ile170Thr)
c.518T>C (p.Ile173Thr)
c.428T>C (p.Ile143Thr)
c.242T>C (p.Ile81Thr)
c.23T>C (p.Ile8Thr)
 ClinVar dbSNP
11g.67610415T>GCA381536585NDUFV1c.545T>G (p.Ile182Ser)
c.524T>G (p.Ile175Ser)
n.287T>G
n.404T>G
c.509T>G (p.Ile170Ser)
c.518T>G (p.Ile173Ser)
c.428T>G (p.Ile143Ser)
c.242T>G (p.Ile81Ser)
c.23T>G (p.Ile8Ser)
11g.67610416T>ACA475412246NDUFV1c.546T>A (p.Ile182=)
c.525T>A (p.Ile175=)
n.288T>A
n.405T>A
c.510T>A (p.Ile170=)
c.519T>A (p.Ile173=)
c.429T>A (p.Ile143=)
c.243T>A (p.Ile81=)
c.24T>A (p.Ile8=)
11g.67610416T>CCA475412249NDUFV1c.546T>C (p.Ile182=)
c.525T>C (p.Ile175=)
n.288T>C
n.405T>C
c.510T>C (p.Ile170=)
c.519T>C (p.Ile173=)
c.429T>C (p.Ile143=)
c.243T>C (p.Ile81=)
c.24T>C (p.Ile8=)
 dbSNP
11g.67610416T>GCA381536588NDUFV1c.546T>G (p.Ile182Met)
c.525T>G (p.Ile175Met)
n.288T>G
n.405T>G
c.510T>G (p.Ile170Met)
c.519T>G (p.Ile173Met)
c.429T>G (p.Ile143Met)
c.243T>G (p.Ile81Met)
c.24T>G (p.Ile8Met)
11g.67610416T=CA1980189787NDUFV1c.546T= (p.Ile182=)
c.525T= (p.Ile175=)
n.288T=
n.405T=
c.510T= (p.Ile170=)
c.519T= (p.Ile173=)
c.429T= (p.Ile143=)
c.243T= (p.Ile81=)
c.24T= (p.Ile8=)
11g.67610417G>ACA381536591NDUFV1c.547G>A (p.Gly183Ser)
c.526G>A (p.Gly176Ser)
n.289G>A
n.406G>A
c.511G>A (p.Gly171Ser)
c.520G>A (p.Gly174Ser)
c.430G>A (p.Gly144Ser)
c.244G>A (p.Gly82Ser)
c.25G>A (p.Gly9Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610417G>CCA381536594NDUFV1c.547G>C (p.Gly183Arg)
c.526G>C (p.Gly176Arg)
n.289G>C
n.406G>C
c.511G>C (p.Gly171Arg)
c.520G>C (p.Gly174Arg)
c.430G>C (p.Gly144Arg)
c.244G>C (p.Gly82Arg)
c.25G>C (p.Gly9Arg)
11g.67610417G=CA1980189798NDUFV1c.547G= (p.Gly183=)
c.526G= (p.Gly176=)
n.289G=
n.406G=
c.511G= (p.Gly171=)
c.520G= (p.Gly174=)
c.430G= (p.Gly144=)
c.244G= (p.Gly82=)
c.25G= (p.Gly9=)
11g.67610417G>TCA381536595NDUFV1c.547G>T (p.Gly183Cys)
c.526G>T (p.Gly176Cys)
n.289G>T
n.406G>T
c.511G>T (p.Gly171Cys)
c.520G>T (p.Gly174Cys)
c.430G>T (p.Gly144Cys)
c.244G>T (p.Gly82Cys)
c.25G>T (p.Gly9Cys)
11g.67610417_67610418delCA645571733NDUFV1c.547_548del (p.Gly183GlnfsTer9)
c.526_527del (p.Gly176GlnfsTer9)
n.289_290del
n.406_407del
c.511_512del (p.Gly171GlnfsTer?)
c.520_521del (p.Gly174GlnfsTer9)
c.430_431del (p.Gly144=)
c.244_245del (p.Gly82GlnfsTer9)
c.526_527del (p.Gly176GlnfsTer?)
c.25_26del (p.Gly9GlnfsTer9)
 COSMIC
11g.67610418G>ACA381536598NDUFV1c.548G>A (p.Gly183Asp)
c.527G>A (p.Gly176Asp)
n.290G>A
n.407G>A
c.512G>A (p.Gly171Asp)
c.521G>A (p.Gly174Asp)
c.431G>A (p.Gly144Asp)
c.245G>A (p.Gly82Asp)
c.26G>A (p.Gly9Asp)
11g.67610418G>CCA381536601NDUFV1c.548G>C (p.Gly183Ala)
c.527G>C (p.Gly176Ala)
n.290G>C
n.407G>C
c.512G>C (p.Gly171Ala)
c.521G>C (p.Gly174Ala)
c.431G>C (p.Gly144Ala)
c.245G>C (p.Gly82Ala)
c.26G>C (p.Gly9Ala)
11g.67610418G>TCA381536604NDUFV1c.548G>T (p.Gly183Val)
c.527G>T (p.Gly176Val)
n.290G>T
n.407G>T
c.512G>T (p.Gly171Val)
c.521G>T (p.Gly174Val)
c.431G>T (p.Gly144Val)
c.245G>T (p.Gly82Val)
c.26G>T (p.Gly9Val)
11g.67610419C>ACA224180110NDUFV1c.549C>A (p.Gly183=)
c.528C>A (p.Gly176=)
n.291C>A
n.408C>A
c.513C>A (p.Gly171=)
c.522C>A (p.Gly174=)
c.432C>A (p.Gly144=)
c.246C>A (p.Gly82=)
c.27C>A (p.Gly9=)
 ClinVar dbSNP gnomAD v4
11g.67610419C=CA1980189813NDUFV1c.549C= (p.Gly183=)
c.528C= (p.Gly176=)
n.291C=
n.408C=
c.513C= (p.Gly171=)
c.522C= (p.Gly174=)
c.432C= (p.Gly144=)
c.246C= (p.Gly82=)
c.27C= (p.Gly9=)
11g.67610419C>GCA292517NDUFV1c.549C>G (p.Gly183=)
c.528C>G (p.Gly176=)
n.291C>G
n.408C>G
c.513C>G (p.Gly171=)
c.522C>G (p.Gly174=)
c.432C>G (p.Gly144=)
c.246C>G (p.Gly82=)
c.27C>G (p.Gly9=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610419C>TCA475412267NDUFV1c.549C>T (p.Gly183=)
c.528C>T (p.Gly176=)
n.291C>T
n.408C>T
c.513C>T (p.Gly171=)
c.522C>T (p.Gly174=)
c.432C>T (p.Gly144=)
c.246C>T (p.Gly82=)
c.27C>T (p.Gly9=)
 gnomAD v4
11g.67610420A>CCA381536611NDUFV1c.550A>C (p.Lys184Gln)
c.529A>C (p.Lys177Gln)
n.292A>C
n.409A>C
c.514A>C (p.Lys172Gln)
c.523A>C (p.Lys175Gln)
c.433A>C
c.247A>C (p.Lys83Gln)
c.28A>C (p.Lys10Gln)
11g.67610420A>GCA381536613NDUFV1c.550A>G (p.Lys184Glu)
c.529A>G (p.Lys177Glu)
n.292A>G
n.409A>G
c.514A>G (p.Lys172Glu)
c.523A>G (p.Lys175Glu)
c.433A>G
c.247A>G (p.Lys83Glu)
c.28A>G (p.Lys10Glu)
11g.67610420A>TCA381536616NDUFV1c.550A>T (p.Lys184Ter)
c.529A>T (p.Lys177Ter)
n.292A>T
n.409A>T
c.514A>T (p.Lys172Ter)
c.523A>T (p.Lys175Ter)
c.433A>T
c.247A>T (p.Lys83Ter)
c.28A>T (p.Lys10Ter)
11g.67610421A>CCA381536621NDUFV1c.551A>C (p.Lys184Thr)
c.530A>C (p.Lys177Thr)
n.293A>C
n.410A>C
c.515A>C (p.Lys172Thr)
c.524A>C (p.Lys175Thr)
c.248A>C (p.Lys83Thr)
c.29A>C (p.Lys10Thr)
11g.67610421A>GCA381536624NDUFV1c.551A>G (p.Lys184Arg)
c.530A>G (p.Lys177Arg)
n.293A>G
n.410A>G
c.515A>G (p.Lys172Arg)
c.524A>G (p.Lys175Arg)
c.248A>G (p.Lys83Arg)
c.29A>G (p.Lys10Arg)
11g.67610421A>TCA381536627NDUFV1c.551A>T (p.Lys184Met)
c.530A>T (p.Lys177Met)
n.293A>T
n.410A>T
c.515A>T (p.Lys172Met)
c.524A>T (p.Lys175Met)
c.248A>T (p.Lys83Met)
c.29A>T (p.Lys10Met)
11g.67610422G>ACA475412280NDUFV1c.552G>A (p.Lys184=)
c.531G>A (p.Lys177=)
n.294G>A
n.411G>A
c.516G>A (p.Lys172=)
c.525G>A (p.Lys175=)
c.249G>A (p.Lys83=)
c.30G>A (p.Lys10=)
11g.67610422G>CCA381536630NDUFV1c.552G>C (p.Lys184Asn)
c.531G>C (p.Lys177Asn)
n.294G>C
n.411G>C
c.516G>C (p.Lys172Asn)
c.525G>C (p.Lys175Asn)
c.249G>C (p.Lys83Asn)
c.30G>C (p.Lys10Asn)
 COSMIC
11g.67610422G>TCA381536633NDUFV1c.552G>T (p.Lys184Asn)
c.531G>T (p.Lys177Asn)
n.294G>T
n.411G>T
c.516G>T (p.Lys172Asn)
c.525G>T (p.Lys175Asn)
c.249G>T (p.Lys83Asn)
c.30G>T (p.Lys10Asn)
11g.67610423A>CCA381536636NDUFV1c.553A>C (p.Asn185His)
c.532A>C (p.Asn178His)
n.295A>C
n.412A>C
c.517A>C (p.Asn173His)
c.526A>C (p.Asn176His)
c.250A>C (p.Asn84His)
c.31A>C (p.Asn11His)
11g.67610423A>GCA381536638NDUFV1c.553A>G (p.Asn185Asp)
c.532A>G (p.Asn178Asp)
n.295A>G
n.412A>G
c.517A>G (p.Asn173Asp)
c.526A>G (p.Asn176Asp)
c.250A>G (p.Asn84Asp)
c.31A>G (p.Asn11Asp)
11g.67610423A>TCA381536640NDUFV1c.553A>T (p.Asn185Tyr)
c.532A>T (p.Asn178Tyr)
n.295A>T
n.412A>T
c.517A>T (p.Asn173Tyr)
c.526A>T (p.Asn176Tyr)
c.250A>T (p.Asn84Tyr)
c.31A>T (p.Asn11Tyr)
11g.67610424A>CCA381536645NDUFV1c.554A>C (p.Asn185Thr)
c.533A>C (p.Asn178Thr)
n.296A>C
n.413A>C
c.518A>C (p.Asn173Thr)
c.527A>C (p.Asn176Thr)
c.251A>C (p.Asn84Thr)
c.32A>C (p.Asn11Thr)
11g.67610424A>GCA381536647NDUFV1c.554A>G (p.Asn185Ser)
c.533A>G (p.Asn178Ser)
n.296A>G
n.413A>G
c.518A>G (p.Asn173Ser)
c.527A>G (p.Asn176Ser)
c.251A>G (p.Asn84Ser)
c.32A>G (p.Asn11Ser)
11g.67610424A>TCA381536651NDUFV1c.554A>T (p.Asn185Ile)
c.533A>T (p.Asn178Ile)
n.296A>T
n.413A>T
c.518A>T (p.Asn173Ile)
c.527A>T (p.Asn176Ile)
c.251A>T (p.Asn84Ile)
c.32A>T (p.Asn11Ile)
11g.67610425T>ACA381536652NDUFV1c.555T>A (p.Asn185Lys)
c.534T>A (p.Asn178Lys)
n.297T>A
n.414T>A
c.519T>A (p.Asn173Lys)
c.528T>A (p.Asn176Lys)
c.252T>A (p.Asn84Lys)
c.33T>A (p.Asn11Lys)
11g.67610425T>CCA475412296NDUFV1c.555T>C (p.Asn185=)
c.534T>C (p.Asn178=)
n.297T>C
n.414T>C
c.519T>C (p.Asn173=)
c.528T>C (p.Asn176=)
c.252T>C (p.Asn84=)
c.33T>C (p.Asn11=)
11g.67610425T>GCA381536655NDUFV1c.555T>G (p.Asn185Lys)
c.534T>G (p.Asn178Lys)
n.297T>G
n.414T>G
c.519T>G (p.Asn173Lys)
c.528T>G (p.Asn176Lys)
c.252T>G (p.Asn84Lys)
c.33T>G (p.Asn11Lys)
11g.67610426G>ACA381536658NDUFV1c.556G>A (p.Ala186Thr)
c.535G>A (p.Ala179Thr)
n.298G>A
n.415G>A
c.520G>A (p.Ala174Thr)
c.529G>A (p.Ala177Thr)
c.253G>A (p.Ala85Thr)
c.535G>A
c.34G>A (p.Ala12Thr)
 gnomAD v4
11g.67610426G>CCA381536664NDUFV1c.556G>C (p.Ala186Pro)
c.535G>C (p.Ala179Pro)
n.298G>C
n.415G>C
c.520G>C (p.Ala174Pro)
c.529G>C (p.Ala177Pro)
c.253G>C (p.Ala85Pro)
c.535G>C
c.34G>C (p.Ala12Pro)
11g.67610426G>TCA381536661NDUFV1c.556G>T (p.Ala186Ser)
c.535G>T (p.Ala179Ser)
n.298G>T
n.415G>T
c.520G>T (p.Ala174Ser)
c.529G>T (p.Ala177Ser)
c.253G>T (p.Ala85Ser)
c.535G>T
c.34G>T (p.Ala12Ser)
11g.67610427C>ACA381536667NDUFV1c.557C>A (p.Ala186Asp)
c.536C>A (p.Ala179Asp)
n.299C>A
n.416C>A
c.521C>A (p.Ala174Asp)
c.530C>A (p.Ala177Asp)
c.254C>A (p.Ala85Asp)
c.35C>A (p.Ala12Asp)
11g.67610427C>GCA381536674NDUFV1c.557C>G (p.Ala186Gly)
c.536C>G (p.Ala179Gly)
n.299C>G
n.416C>G
c.521C>G (p.Ala174Gly)
c.530C>G (p.Ala177Gly)
c.254C>G (p.Ala85Gly)
c.35C>G (p.Ala12Gly)
 gnomAD v4
11g.67610427C>TCA381536669NDUFV1c.557C>T (p.Ala186Val)
c.536C>T (p.Ala179Val)
n.299C>T
n.416C>T
c.521C>T (p.Ala174Val)
c.530C>T (p.Ala177Val)
c.254C>T (p.Ala85Val)
c.35C>T (p.Ala12Val)
 gnomAD v4
11g.67610428T>ACA475412309NDUFV1c.558T>A (p.Ala186=)
c.537T>A (p.Ala179=)
n.300T>A
n.417T>A
c.522T>A (p.Ala174=)
c.531T>A (p.Ala177=)
c.255T>A (p.Ala85=)
c.36T>A (p.Ala12=)
11g.67610428T>CCA475412311NDUFV1c.558T>C (p.Ala186=)
c.537T>C (p.Ala179=)
n.300T>C
n.417T>C
c.522T>C (p.Ala174=)
c.531T>C (p.Ala177=)
c.255T>C (p.Ala85=)
c.36T>C (p.Ala12=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610428T>GCA475412313NDUFV1c.558T>G (p.Ala186=)
c.537T>G (p.Ala179=)
n.300T>G
n.417T>G
c.522T>G (p.Ala174=)
c.531T>G (p.Ala177=)
c.255T>G (p.Ala85=)
c.36T>G (p.Ala12=)
11g.67610428T=CA1980189816NDUFV1c.558T= (p.Ala186=)
c.537T= (p.Ala179=)
n.300T=
n.417T=
c.522T= (p.Ala174=)
c.531T= (p.Ala177=)
c.255T= (p.Ala85=)
c.36T= (p.Ala12=)
11g.67610429T>ACA381536676NDUFV1c.559T>A (p.Cys187Ser)
c.538T>A (p.Cys180Ser)
n.301T>A
n.418T>A
c.523T>A (p.Cys175Ser)
c.532T>A (p.Cys178Ser)
c.256T>A (p.Cys86Ser)
c.37T>A (p.Cys13Ser)
11g.67610429T>CCA381536679NDUFV1c.559T>C (p.Cys187Arg)
c.538T>C (p.Cys180Arg)
n.301T>C
n.418T>C
c.523T>C (p.Cys175Arg)
c.532T>C (p.Cys178Arg)
c.256T>C (p.Cys86Arg)
c.37T>C (p.Cys13Arg)
 gnomAD v4
11g.67610429T>GCA381536681NDUFV1c.559T>G (p.Cys187Gly)
c.538T>G (p.Cys180Gly)
n.301T>G
n.418T>G
c.523T>G (p.Cys175Gly)
c.532T>G (p.Cys178Gly)
c.256T>G (p.Cys86Gly)
c.37T>G (p.Cys13Gly)
11g.67610430G>ACA381536685NDUFV1c.560G>A (p.Cys187Tyr)
c.539G>A (p.Cys180Tyr)
n.302G>A
n.419G>A
c.524G>A (p.Cys175Tyr)
c.533G>A (p.Cys178Tyr)
c.257G>A (p.Cys86Tyr)
c.38G>A (p.Cys13Tyr)
11g.67610430G>CCA6143210NDUFV1c.560G>C (p.Cys187Ser)
c.539G>C (p.Cys180Ser)
n.302G>C
n.419G>C
c.524G>C (p.Cys175Ser)
c.533G>C (p.Cys178Ser)
c.257G>C (p.Cys86Ser)
c.38G>C (p.Cys13Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67610430G=CA1980189822NDUFV1c.560G= (p.Cys187=)
c.539G= (p.Cys180=)
n.302G=
n.419G=
c.524G= (p.Cys175=)
c.533G= (p.Cys178=)
c.257G= (p.Cys86=)
c.38G= (p.Cys13=)
11g.67610430G>TCA381536688NDUFV1c.560G>T (p.Cys187Phe)
c.539G>T (p.Cys180Phe)
n.302G>T
n.419G>T
c.524G>T (p.Cys175Phe)
c.533G>T (p.Cys178Phe)
c.257G>T (p.Cys86Phe)
c.38G>T (p.Cys13Phe)
11g.67610431T>ACA381536690NDUFV1c.561T>A (p.Cys187Ter)
c.540T>A (p.Cys180Ter)
n.303T>A
n.420T>A
c.525T>A (p.Cys175Ter)
c.534T>A (p.Cys178Ter)
c.258T>A (p.Cys86Ter)
c.39T>A (p.Cys13Ter)
11g.67610431T>CCA6143211NDUFV1c.561T>C (p.Cys187=)
c.540T>C (p.Cys180=)
n.303T>C
n.420T>C
c.525T>C (p.Cys175=)
c.534T>C (p.Cys178=)
c.258T>C (p.Cys86=)
c.39T>C (p.Cys13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610431T>GCA381536691NDUFV1c.561T>G (p.Cys187Trp)
c.540T>G (p.Cys180Trp)
n.303T>G
n.420T>G
c.525T>G (p.Cys175Trp)
c.534T>G (p.Cys178Trp)
c.258T>G (p.Cys86Trp)
c.39T>G (p.Cys13Trp)
11g.67610431T=CA1980189834NDUFV1c.561T= (p.Cys187=)
c.540T= (p.Cys180=)
n.303T=
n.420T=
c.525T= (p.Cys175=)
c.534T= (p.Cys178=)
c.258T= (p.Cys86=)
c.39T= (p.Cys13=)
11g.67610432G>ACA381536695NDUFV1c.562G>A (p.Gly188Ser)
c.541G>A (p.Gly181Ser)
n.304G>A
n.421G>A
c.526G>A (p.Gly176Ser)
c.535G>A (p.Gly179Ser)
c.259G>A (p.Gly87Ser)
c.40G>A (p.Gly14Ser)
11g.67610432G>CCA381536696NDUFV1c.562G>C (p.Gly188Arg)
c.541G>C (p.Gly181Arg)
n.304G>C
n.421G>C
c.526G>C (p.Gly176Arg)
c.535G>C (p.Gly179Arg)
c.259G>C (p.Gly87Arg)
c.40G>C (p.Gly14Arg)
11g.67610432G>TCA381536698NDUFV1c.562G>T (p.Gly188Cys)
c.541G>T (p.Gly181Cys)
n.304G>T
n.421G>T
c.526G>T (p.Gly176Cys)
c.535G>T (p.Gly179Cys)
c.259G>T (p.Gly87Cys)
c.40G>T (p.Gly14Cys)
11g.67610433G>ACA6143212NDUFV1c.563G>A (p.Gly188Asp)
c.542G>A (p.Gly181Asp)
n.305G>A
n.422G>A
c.527G>A (p.Gly176Asp)
c.536G>A (p.Gly179Asp)
c.260G>A (p.Gly87Asp)
c.41G>A (p.Gly14Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610433G>CCA381536703NDUFV1c.563G>C (p.Gly188Ala)
c.542G>C (p.Gly181Ala)
n.305G>C
n.422G>C
c.527G>C (p.Gly176Ala)
c.536G>C (p.Gly179Ala)
c.260G>C (p.Gly87Ala)
c.41G>C (p.Gly14Ala)
11g.67610433G=CA1980189843NDUFV1c.563G= (p.Gly188=)
c.542G= (p.Gly181=)
n.305G=
n.422G=
c.527G= (p.Gly176=)
c.536G= (p.Gly179=)
c.260G= (p.Gly87=)
c.41G= (p.Gly14=)
11g.67610433G>TCA381536701NDUFV1c.563G>T (p.Gly188Val)
c.542G>T (p.Gly181Val)
n.305G>T
n.422G>T
c.527G>T (p.Gly176Val)
c.536G>T (p.Gly179Val)
c.260G>T (p.Gly87Val)
c.41G>T (p.Gly14Val)
11g.67610434C>ACA475412340NDUFV1c.564C>A (p.Gly188=)
c.543C>A (p.Gly181=)
n.306C>A
n.423C>A
c.528C>A (p.Gly176=)
c.537C>A (p.Gly179=)
c.261C>A (p.Gly87=)
c.42C>A (p.Gly14=)
11g.67610434C>GCA475412342NDUFV1c.564C>G (p.Gly188=)
c.543C>G (p.Gly181=)
n.306C>G
n.423C>G
c.528C>G (p.Gly176=)
c.537C>G (p.Gly179=)
c.261C>G (p.Gly87=)
c.42C>G (p.Gly14=)
11g.67610434C>TCA475412344NDUFV1c.564C>T (p.Gly188=)
c.543C>T (p.Gly181=)
n.306C>T
n.423C>T
c.528C>T (p.Gly176=)
c.537C>T (p.Gly179=)
c.261C>T (p.Gly87=)
c.42C>T (p.Gly14=)
11g.67610435T>ACA381536705NDUFV1c.565T>A (p.Ser189Thr)
c.544T>A (p.Ser182Thr)
n.307T>A
n.424T>A
c.529T>A (p.Ser177Thr)
c.538T>A (p.Ser180Thr)
c.262T>A (p.Ser88Thr)
c.43T>A (p.Ser15Thr)
11g.67610435T>CCA224180127NDUFV1c.565T>C (p.Ser189Pro)
c.544T>C (p.Ser182Pro)
n.307T>C
n.424T>C
c.529T>C (p.Ser177Pro)
c.538T>C (p.Ser180Pro)
c.262T>C (p.Ser88Pro)
c.43T>C (p.Ser15Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67610435T>GCA381536707NDUFV1c.565T>G (p.Ser189Ala)
c.544T>G (p.Ser182Ala)
n.307T>G
n.424T>G
c.529T>G (p.Ser177Ala)
c.538T>G (p.Ser180Ala)
c.262T>G (p.Ser88Ala)
c.43T>G (p.Ser15Ala)
11g.67610435T=CA1980189850NDUFV1c.565T= (p.Ser189=)
c.544T= (p.Ser182=)
n.307T=
n.424T=
c.529T= (p.Ser177=)
c.538T= (p.Ser180=)
c.262T= (p.Ser88=)
c.43T= (p.Ser15=)
11g.67610436C>ACA381536708NDUFV1c.566C>A (p.Ser189Tyr)
c.545C>A (p.Ser182Tyr)
n.308C>A
n.425C>A
c.530C>A (p.Ser177Tyr)
c.539C>A (p.Ser180Tyr)
c.263C>A (p.Ser88Tyr)
c.44C>A (p.Ser15Tyr)
11g.67610436C=CA1980189859NDUFV1c.566C= (p.Ser189=)
c.545C= (p.Ser182=)
n.308C=
n.425C=
c.530C= (p.Ser177=)
c.539C= (p.Ser180=)
c.263C= (p.Ser88=)
c.44C= (p.Ser15=)
11g.67610436C>GCA6143213NDUFV1c.566C>G (p.Ser189Cys)
c.545C>G (p.Ser182Cys)
n.308C>G
n.425C>G
c.530C>G (p.Ser177Cys)
c.539C>G (p.Ser180Cys)
c.263C>G (p.Ser88Cys)
c.44C>G (p.Ser15Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610436C>TCA6143214NDUFV1c.566C>T (p.Ser189Phe)
c.545C>T (p.Ser182Phe)
n.308C>T
n.425C>T
c.530C>T (p.Ser177Phe)
c.539C>T (p.Ser180Phe)
c.263C>T (p.Ser88Phe)
c.44C>T (p.Ser15Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610437T>ACA475412359NDUFV1c.567T>A (p.Ser189=)
c.546T>A (p.Ser182=)
n.309T>A
n.426T>A
c.531T>A (p.Ser177=)
c.540T>A (p.Ser180=)
c.264T>A (p.Ser88=)
c.45T>A (p.Ser15=)
11g.67610437T>CCA475412361NDUFV1c.567T>C (p.Ser189=)
c.546T>C (p.Ser182=)
n.309T>C
n.426T>C
c.531T>C (p.Ser177=)
c.540T>C (p.Ser180=)
c.264T>C (p.Ser88=)
c.45T>C (p.Ser15=)
 ClinVar dbSNP
11g.67610437T>GCA475412362NDUFV1c.567T>G (p.Ser189=)
c.546T>G (p.Ser182=)
n.309T>G
n.426T>G
c.531T>G (p.Ser177=)
c.540T>G (p.Ser180=)
c.264T>G (p.Ser88=)
c.45T>G (p.Ser15=)
11g.67610438G>ACA381536712NDUFV1c.568G>A (p.Gly190Ser)
c.547G>A (p.Gly183Ser)
n.310G>A
n.427G>A
c.532G>A (p.Gly178Ser)
c.541G>A (p.Gly181Ser)
c.265G>A (p.Gly89Ser)
c.46G>A (p.Gly16Ser)
 gnomAD v4
11g.67610438G>CCA381536714NDUFV1c.568G>C (p.Gly190Arg)
c.547G>C (p.Gly183Arg)
n.310G>C
n.427G>C
c.532G>C (p.Gly178Arg)
c.541G>C (p.Gly181Arg)
c.265G>C (p.Gly89Arg)
c.46G>C (p.Gly16Arg)
11g.67610438G>TCA381536716NDUFV1c.568G>T (p.Gly190Cys)
c.547G>T (p.Gly183Cys)
n.310G>T
n.427G>T
c.532G>T (p.Gly178Cys)
c.541G>T (p.Gly181Cys)
c.265G>T (p.Gly89Cys)
c.46G>T (p.Gly16Cys)
11g.67610439G>ACA381536720NDUFV1c.569G>A (p.Gly190Asp)
c.548G>A (p.Gly183Asp)
n.311G>A
n.428G>A
c.533G>A (p.Gly178Asp)
c.542G>A (p.Gly181Asp)
c.266G>A (p.Gly89Asp)
c.47G>A (p.Gly16Asp)
11g.67610439G>CCA381536723NDUFV1c.569G>C (p.Gly190Ala)
c.548G>C (p.Gly183Ala)
n.311G>C
n.428G>C
c.533G>C (p.Gly178Ala)
c.542G>C (p.Gly181Ala)
c.266G>C (p.Gly89Ala)
c.47G>C (p.Gly16Ala)
11g.67610439G>TCA381536718NDUFV1c.569G>T (p.Gly190Val)
c.548G>T (p.Gly183Val)
n.311G>T
n.428G>T
c.533G>T (p.Gly178Val)
c.542G>T (p.Gly181Val)
c.266G>T (p.Gly89Val)
c.47G>T (p.Gly16Val)
11g.67610440C>ACA475412372NDUFV1c.570C>A (p.Gly190=)
c.549C>A (p.Gly183=)
n.312C>A
n.429C>A
c.534C>A (p.Gly178=)
c.543C>A (p.Gly181=)
c.267C>A (p.Gly89=)
c.48C>A (p.Gly16=)
11g.67610440C>GCA475412374NDUFV1c.570C>G (p.Gly190=)
c.549C>G (p.Gly183=)
n.312C>G
n.429C>G
c.534C>G (p.Gly178=)
c.543C>G (p.Gly181=)
c.267C>G (p.Gly89=)
c.48C>G (p.Gly16=)
11g.67610440C>TCA475412375NDUFV1c.570C>T (p.Gly190=)
c.549C>T (p.Gly183=)
n.312C>T
n.429C>T
c.534C>T (p.Gly178=)
c.543C>T (p.Gly181=)
c.267C>T (p.Gly89=)
c.48C>T (p.Gly16=)
11g.67610441T>ACA381536725NDUFV1c.571T>A (p.Tyr191Asn)
c.550T>A (p.Tyr184Asn)
n.313T>A
n.430T>A
c.535T>A
c.544T>A (p.Tyr182Asn)
c.268T>A (p.Tyr90Asn)
c.49T>A (p.Tyr17Asn)
11g.67610441T>CCA381536727NDUFV1c.571T>C (p.Tyr191His)
c.550T>C (p.Tyr184His)
n.313T>C
n.430T>C
c.535T>C
c.544T>C (p.Tyr182His)
c.268T>C (p.Tyr90His)
c.49T>C (p.Tyr17His)
11g.67610441T>GCA381536728NDUFV1c.571T>G (p.Tyr191Asp)
c.550T>G (p.Tyr184Asp)
n.313T>G
n.430T>G
c.535T>G
c.544T>G (p.Tyr182Asp)
c.268T>G (p.Tyr90Asp)
c.49T>G (p.Tyr17Asp)
11g.67610442A=CA1980189864NDUFV1c.572A= (p.Tyr191=)
c.551A= (p.Tyr184=)
n.314A=
n.431A=
c.545A= (p.Tyr182=)
c.269A= (p.Tyr90=)
c.50A= (p.Tyr17=)
11g.67610442A>CCA381536731NDUFV1c.572A>C (p.Tyr191Ser)
c.551A>C (p.Tyr184Ser)
n.314A>C
n.431A>C
c.545A>C (p.Tyr182Ser)
c.269A>C (p.Tyr90Ser)
c.50A>C (p.Tyr17Ser)
11g.67610442A>GCA381536733NDUFV1c.572A>G (p.Tyr191Cys)
c.551A>G (p.Tyr184Cys)
n.314A>G
n.431A>G
c.545A>G (p.Tyr182Cys)
c.269A>G (p.Tyr90Cys)
c.50A>G (p.Tyr17Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610442A>TCA381536734NDUFV1c.572A>T (p.Tyr191Phe)
c.551A>T (p.Tyr184Phe)
n.314A>T
n.431A>T
c.545A>T (p.Tyr182Phe)
c.269A>T (p.Tyr90Phe)
c.50A>T (p.Tyr17Phe)
11g.67610444_67610446delCA2614647462NDUFV1c.574_576del (p.Asp192del)
c.553_555del (p.Asp185del)
n.316_318del
n.433_435del
c.547_549del (p.Asp183del)
c.271_273del (p.Asp91del)
c.52_54del (p.Asp18del)
 gnomAD v4
11g.67610443T>ACA381536736NDUFV1c.573T>A (p.Tyr191Ter)
c.552T>A (p.Tyr184Ter)
n.315T>A
n.432T>A
c.546T>A (p.Tyr182Ter)
c.270T>A (p.Tyr90Ter)
c.51T>A (p.Tyr17Ter)
11g.67610443T>CCA475412392NDUFV1c.573T>C (p.Tyr191=)
c.552T>C (p.Tyr184=)
n.315T>C
n.432T>C
c.546T>C (p.Tyr182=)
c.270T>C (p.Tyr90=)
c.51T>C (p.Tyr17=)
 ClinVar dbSNP
11g.67610443T>GCA381536738NDUFV1c.573T>G (p.Tyr191Ter)
c.552T>G (p.Tyr184Ter)
n.315T>G
n.432T>G
c.546T>G (p.Tyr182Ter)
c.270T>G (p.Tyr90Ter)
c.51T>G (p.Tyr17Ter)
11g.67610443T=CA1980189869NDUFV1c.573T= (p.Tyr191=)
c.552T= (p.Tyr184=)
n.315T=
n.432T=
c.546T= (p.Tyr182=)
c.270T= (p.Tyr90=)
c.51T= (p.Tyr17=)
11g.67610444G>ACA381536740NDUFV1c.574G>A (p.Asp192Asn)
c.553G>A (p.Asp185Asn)
n.316G>A
n.433G>A
c.547G>A (p.Asp183Asn)
c.271G>A (p.Asp91Asn)
c.52G>A (p.Asp18Asn)
11g.67610444G>CCA381536742NDUFV1c.574G>C (p.Asp192His)
c.553G>C (p.Asp185His)
n.316G>C
n.433G>C
c.547G>C (p.Asp183His)
c.271G>C (p.Asp91His)
c.52G>C (p.Asp18His)
11g.67610444G>TCA381536743NDUFV1c.574G>T (p.Asp192Tyr)
c.553G>T (p.Asp185Tyr)
n.316G>T
n.433G>T
c.547G>T (p.Asp183Tyr)
c.271G>T (p.Asp91Tyr)
c.52G>T (p.Asp18Tyr)
11g.67610445A>CCA381536746NDUFV1c.575A>C (p.Asp192Ala)
c.554A>C (p.Asp185Ala)
n.317A>C
n.434A>C
c.548A>C (p.Asp183Ala)
c.272A>C (p.Asp91Ala)
c.53A>C (p.Asp18Ala)
11g.67610445A>GCA381536747NDUFV1c.575A>G (p.Asp192Gly)
c.554A>G (p.Asp185Gly)
n.317A>G
n.434A>G
c.548A>G (p.Asp183Gly)
c.272A>G (p.Asp91Gly)
c.53A>G (p.Asp18Gly)
11g.67610445A>TCA381536745NDUFV1c.575A>T (p.Asp192Val)
c.554A>T (p.Asp185Val)
n.317A>T
n.434A>T
c.548A>T (p.Asp183Val)
c.272A>T (p.Asp91Val)
c.53A>T (p.Asp18Val)
11g.67610446T>ACA381536748NDUFV1c.576T>A (p.Asp192Glu)
c.555T>A (p.Asp185Glu)
n.318T>A
n.435T>A
c.549T>A (p.Asp183Glu)
c.273T>A (p.Asp91Glu)
c.54T>A (p.Asp18Glu)
11g.67610446T>CCA6143215NDUFV1c.576T>C (p.Asp192=)
c.555T>C (p.Asp185=)
n.318T>C
n.435T>C
c.549T>C (p.Asp183=)
c.273T>C (p.Asp91=)
c.54T>C (p.Asp18=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610446T>GCA381536749NDUFV1c.576T>G (p.Asp192Glu)
c.555T>G (p.Asp185Glu)
n.318T>G
n.435T>G
c.549T>G (p.Asp183Glu)
c.273T>G (p.Asp91Glu)
c.54T>G (p.Asp18Glu)
11g.67610446T=CA1980189874NDUFV1c.576T= (p.Asp192=)
c.555T= (p.Asp185=)
n.318T=
n.435T=
c.549T= (p.Asp183=)
c.273T= (p.Asp91=)
c.54T= (p.Asp18=)
11g.67610447T>ACA381536751NDUFV1c.577T>A (p.Phe193Ile)
c.556T>A (p.Phe186Ile)
n.319T>A
n.436T>A
c.550T>A (p.Phe184Ile)
c.274T>A (p.Phe92Ile)
c.55T>A (p.Phe19Ile)
11g.67610447T>CCA381536753NDUFV1c.577T>C (p.Phe193Leu)
c.556T>C (p.Phe186Leu)
n.319T>C
n.436T>C
c.550T>C (p.Phe184Leu)
c.274T>C (p.Phe92Leu)
c.55T>C (p.Phe19Leu)
11g.67610447T>GCA381536755NDUFV1c.577T>G (p.Phe193Val)
c.556T>G (p.Phe186Val)
n.319T>G
n.436T>G
c.550T>G (p.Phe184Val)
c.274T>G (p.Phe92Val)
c.55T>G (p.Phe19Val)
11g.67610448T>ACA381536761NDUFV1c.578T>A (p.Phe193Tyr)
c.557T>A (p.Phe186Tyr)
n.320T>A
n.437T>A
c.551T>A (p.Phe184Tyr)
c.275T>A (p.Phe92Tyr)
c.56T>A (p.Phe19Tyr)
11g.67610448T>CCA381536774NDUFV1c.578T>C (p.Phe193Ser)
c.557T>C (p.Phe186Ser)
n.320T>C
n.437T>C
c.551T>C (p.Phe184Ser)
c.275T>C (p.Phe92Ser)
c.56T>C (p.Phe19Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.67610448T>GCA381536763NDUFV1c.578T>G (p.Phe193Cys)
c.557T>G (p.Phe186Cys)
n.320T>G
n.437T>G
c.551T>G (p.Phe184Cys)
c.275T>G (p.Phe92Cys)
c.56T>G (p.Phe19Cys)
11g.67610448T=CA1980189875NDUFV1c.578T= (p.Phe193=)
c.557T= (p.Phe186=)
n.320T=
n.437T=
c.551T= (p.Phe184=)
c.275T= (p.Phe92=)
c.56T= (p.Phe19=)
11g.67610449T>ACA381536775NDUFV1c.579T>A (p.Phe193Leu)
c.558T>A (p.Phe186Leu)
n.321T>A
n.438T>A
c.552T>A (p.Phe184Leu)
c.276T>A (p.Phe92Leu)
c.57T>A (p.Phe19Leu)
11g.67610449T>CCA475412421NDUFV1c.579T>C (p.Phe193=)
c.558T>C (p.Phe186=)
n.321T>C
n.438T>C
c.552T>C (p.Phe184=)
c.276T>C (p.Phe92=)
c.57T>C (p.Phe19=)
11g.67610449T>GCA381536776NDUFV1c.579T>G (p.Phe193Leu)
c.558T>G (p.Phe186Leu)
n.321T>G
n.438T>G
c.552T>G (p.Phe184Leu)
c.276T>G (p.Phe92Leu)
c.57T>G (p.Phe19Leu)
11g.67610450G>ACA381536777NDUFV1c.580G>A (p.Asp194Asn)
c.559G>A (p.Asp187Asn)
n.322G>A
n.439G>A
c.553G>A (p.Asp185Asn)
c.277G>A (p.Asp93Asn)
c.58G>A (p.Asp20Asn)
11g.67610450G>CCA381536779NDUFV1c.580G>C (p.Asp194His)
c.559G>C (p.Asp187His)
n.322G>C
n.439G>C
c.553G>C (p.Asp185His)
c.277G>C (p.Asp93His)
c.58G>C (p.Asp20His)
11g.67610450G=CA1980189877NDUFV1c.580G= (p.Asp194=)
c.559G= (p.Asp187=)
n.322G=
n.439G=
c.553G= (p.Asp185=)
c.277G= (p.Asp93=)
c.58G= (p.Asp20=)
11g.67610450G>TCA381536780NDUFV1c.580G>T (p.Asp194Tyr)
c.559G>T (p.Asp187Tyr)
n.322G>T
n.439G>T
c.553G>T (p.Asp185Tyr)
c.277G>T (p.Asp93Tyr)
c.58G>T (p.Asp20Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67610451A>CCA381536784NDUFV1c.581A>C (p.Asp194Ala)
c.560A>C (p.Asp187Ala)
n.323A>C
n.440A>C
c.554A>C (p.Asp185Ala)
c.278A>C (p.Asp93Ala)
c.59A>C (p.Asp20Ala)
11g.67610451A>GCA381536783NDUFV1c.581A>G (p.Asp194Gly)
c.560A>G (p.Asp187Gly)
n.323A>G
n.440A>G
c.554A>G (p.Asp185Gly)
c.278A>G (p.Asp93Gly)
c.59A>G (p.Asp20Gly)
11g.67610451A>TCA381536782NDUFV1c.581A>T (p.Asp194Val)
c.560A>T (p.Asp187Val)
n.323A>T
n.440A>T
c.554A>T (p.Asp185Val)
c.278A>T (p.Asp93Val)
c.59A>T (p.Asp20Val)
11g.67610452C>ACA381536786NDUFV1c.582C>A (p.Asp194Glu)
c.561C>A (p.Asp187Glu)
n.324C>A
n.441C>A
c.555C>A (p.Asp185Glu)
c.279C>A (p.Asp93Glu)
c.60C>A (p.Asp20Glu)
11g.67610452C=CA1980189882NDUFV1c.582C= (p.Asp194=)
c.561C= (p.Asp187=)
n.324C=
n.441C=
c.555C= (p.Asp185=)
c.279C= (p.Asp93=)
c.60C= (p.Asp20=)
11g.67610452C>GCA381536785NDUFV1c.582C>G (p.Asp194Glu)
c.561C>G (p.Asp187Glu)
n.324C>G
n.441C>G
c.555C>G (p.Asp185Glu)
c.279C>G (p.Asp93Glu)
c.60C>G (p.Asp20Glu)
11g.67610452C>TCA6143216NDUFV1c.582C>T (p.Asp194=)
c.561C>T (p.Asp187=)
n.324C>T
n.441C>T
c.555C>T (p.Asp185=)
c.279C>T (p.Asp93=)
c.60C>T (p.Asp20=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610453G>ACA6143217NDUFV1c.583G>A (p.Val195Met)
c.562G>A (p.Val188Met)
n.325G>A
n.442G>A
c.556G>A (p.Val186Met)
c.280G>A (p.Val94Met)
c.61G>A (p.Val21Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610453G>CCA381536792NDUFV1c.583G>C (p.Val195Leu)
c.562G>C (p.Val188Leu)
n.325G>C
n.442G>C
c.556G>C (p.Val186Leu)
c.280G>C (p.Val94Leu)
c.61G>C (p.Val21Leu)
11g.67610453G=CA1980189888NDUFV1c.583G= (p.Val195=)
c.562G= (p.Val188=)
n.325G=
n.442G=
c.556G= (p.Val186=)
c.280G= (p.Val94=)
c.61G= (p.Val21=)
11g.67610453G>TCA381536795NDUFV1c.583G>T (p.Val195Leu)
c.562G>T (p.Val188Leu)
n.325G>T
n.442G>T
c.556G>T (p.Val186Leu)
c.280G>T (p.Val94Leu)
c.61G>T (p.Val21Leu)
 gnomAD v4
11g.67610454T>ACA381536799NDUFV1c.584T>A (p.Val195Glu)
c.563T>A (p.Val188Glu)
n.326T>A
n.443T>A
c.557T>A (p.Val186Glu)
c.281T>A (p.Val94Glu)
c.62T>A (p.Val21Glu)
 gnomAD v4
11g.67610454T>CCA224180164NDUFV1c.584T>C (p.Val195Ala)
c.563T>C (p.Val188Ala)
n.326T>C
n.443T>C
c.557T>C (p.Val186Ala)
c.281T>C (p.Val94Ala)
c.62T>C (p.Val21Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.67610454T>GCA381536802NDUFV1c.584T>G (p.Val195Gly)
c.563T>G (p.Val188Gly)
n.326T>G
n.443T>G
c.557T>G (p.Val186Gly)
c.281T>G (p.Val94Gly)
c.62T>G (p.Val21Gly)
11g.67610454T=CA1980189895NDUFV1c.584T= (p.Val195=)
c.563T= (p.Val188=)
n.326T=
n.443T=
c.557T= (p.Val186=)
c.281T= (p.Val94=)
c.62T= (p.Val21=)
11g.67610455G>ACA6143218NDUFV1c.585G>A (p.Val195=)
c.564G>A (p.Val188=)
n.327G>A
n.444G>A
c.558G>A (p.Val186=)
c.282G>A (p.Val94=)
c.63G>A (p.Val21=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67610455G>CCA475412453NDUFV1c.585G>C (p.Val195=)
c.564G>C (p.Val188=)
n.327G>C
n.444G>C
c.558G>C (p.Val186=)
c.282G>C (p.Val94=)
c.63G>C (p.Val21=)
 dbSNP
11g.67610455G=CA1980189904NDUFV1c.585G= (p.Val195=)
c.564G= (p.Val188=)
n.327G=
n.444G=
c.558G= (p.Val186=)
c.282G= (p.Val94=)
c.63G= (p.Val21=)
11g.67610455G>TCA475412455NDUFV1c.585G>T (p.Val195=)
c.564G>T (p.Val188=)
n.327G>T
n.444G>T
c.558G>T (p.Val186=)
c.282G>T (p.Val94=)
c.63G>T (p.Val21=)
11g.67610456T>ACA381536805NDUFV1c.586T>A (p.Phe196Ile)
c.565T>A (p.Phe189Ile)
n.328T>A
n.445T>A
c.559T>A (p.Phe187Ile)
c.283T>A (p.Phe95Ile)
c.64T>A (p.Phe22Ile)
11g.67610456T>CCA381536807NDUFV1c.586T>C (p.Phe196Leu)
c.565T>C (p.Phe189Leu)
n.328T>C
n.445T>C
c.559T>C (p.Phe187Leu)
c.283T>C (p.Phe95Leu)
c.64T>C (p.Phe22Leu)
11g.67610456T>GCA381536809NDUFV1c.586T>G (p.Phe196Val)
c.565T>G (p.Phe189Val)
n.328T>G
n.445T>G
c.559T>G (p.Phe187Val)
c.283T>G (p.Phe95Val)
c.64T>G (p.Phe22Val)

Number of alleles fetched