Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68036513_68036516delinsAAGG | CA1980452371 | NDUFS8 | c.553_556delinsAAGG (p.Lys185=) c.485_488delinsAAGG c.*608_*611delinsAAGG (n.*608_*611delinsAAGG) c.115_118delinsAAGG (p.Lys39=) n.405_408delinsAAGG c.433_436delinsAAGG (p.Lys145=) | |
11 | g.68036516_68036518del | CA6146565 | NDUFS8 | c.556_558del (p.Glu186del) c.488_490del c.*611_*613del (n.*611_*613del) c.118_120del (p.Glu40del) n.408_410del c.436_438del (p.Glu146del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036515G>A | CA475442845 | NDUFS8 | c.555G>A (p.Lys185=) c.487G>A c.*610G>A (n.*610G>A) c.117G>A (p.Lys39=) n.407G>A c.435G>A (p.Lys145=) | |
11 | g.68036515G>C | CA381569884 | NDUFS8 | c.555G>C (p.Lys185Asn) c.487G>C c.*610G>C (n.*610G>C) c.117G>C (p.Lys39Asn) n.407G>C c.435G>C (p.Lys145Asn) | |
11 | g.68036515G>T | CA381569886 | NDUFS8 | c.555G>T (p.Lys185Asn) c.487G>T c.*610G>T (n.*610G>T) c.117G>T (p.Lys39Asn) n.407G>T c.435G>T (p.Lys145Asn) | |
11 | g.68036516G>A | CA381569891 | NDUFS8 | c.556G>A (p.Glu186Lys) c.488G>A c.*611G>A (n.*611G>A) c.118G>A (p.Glu40Lys) n.408G>A c.436G>A (p.Glu146Lys) | |
11 | g.68036516G>C | CA381569894 | NDUFS8 | c.556G>C (p.Glu186Gln) c.488G>C c.*611G>C (n.*611G>C) c.118G>C (p.Glu40Gln) n.408G>C c.436G>C (p.Glu146Gln) | |
11 | g.68036516G>T | CA381569896 | NDUFS8 | c.556G>T (p.Glu186Ter) c.488G>T c.*611G>T (n.*611G>T) c.118G>T (p.Glu40Ter) n.408G>T c.436G>T (p.Glu146Ter) | |
11 | g.68036517A>C | CA381569899 | NDUFS8 | c.557A>C (p.Glu186Ala) c.489A>C c.*612A>C (n.*612A>C) c.119A>C (p.Glu40Ala) n.409A>C c.437A>C (p.Glu146Ala) | |
11 | g.68036517A>G | CA381569902 | NDUFS8 | c.557A>G (p.Glu186Gly) c.489A>G c.*612A>G (n.*612A>G) c.119A>G (p.Glu40Gly) n.409A>G c.437A>G (p.Glu146Gly) | |
11 | g.68036517A>T | CA381569905 | NDUFS8 | c.557A>T (p.Glu186Val) c.489A>T c.*612A>T (n.*612A>T) c.119A>T (p.Glu40Val) n.409A>T c.437A>T (p.Glu146Val) | |
11 | g.68036518G>A | CA475442857 | NDUFS8 | c.558G>A (p.Glu186=) c.490G>A c.*613G>A (n.*613G>A) c.120G>A (p.Glu40=) n.410G>A c.438G>A (p.Glu146=) | |
11 | g.68036518G>C | CA381569911 | NDUFS8 | c.558G>C (p.Glu186Asp) c.490G>C c.*613G>C (n.*613G>C) c.120G>C (p.Glu40Asp) n.410G>C c.438G>C (p.Glu146Asp) | |
11 | g.68036518G>T | CA381569909 | NDUFS8 | c.558G>T (p.Glu186Asp) c.490G>T c.*613G>T (n.*613G>T) c.120G>T (p.Glu40Asp) n.410G>T c.438G>T (p.Glu146Asp) | |
11 | g.68036519A>C | CA381569914 | NDUFS8 | c.559A>C (p.Lys187Gln) c.491A>C c.*614A>C (n.*614A>C) c.121A>C (p.Lys41Gln) n.411A>C c.439A>C (p.Lys147Gln) | |
11 | g.68036519A>G | CA381569916 | NDUFS8 | c.559A>G (p.Lys187Glu) c.491A>G c.*614A>G (n.*614A>G) c.121A>G (p.Lys41Glu) n.411A>G c.439A>G (p.Lys147Glu) | gnomAD v4 |
11 | g.68036519A>T | CA381569919 | NDUFS8 | c.559A>T (p.Lys187Ter) c.491A>T c.*614A>T (n.*614A>T) c.121A>T (p.Lys41Ter) n.411A>T c.439A>T (p.Lys147Ter) | |
11 | g.68036520A= | CA1980452381 | NDUFS8 | c.560A= (p.Lys187=) c.492A= c.*615A= (n.*615A=) c.122A= (p.Lys41=) n.412A= c.440A= (p.Lys147=) | |
11 | g.68036520A>C | CA381569921 | NDUFS8 | c.560A>C (p.Lys187Thr) c.492A>C c.*615A>C (n.*615A>C) c.122A>C (p.Lys41Thr) n.412A>C c.440A>C (p.Lys147Thr) | dbSNP |
11 | g.68036520A>G | CA381569924 | NDUFS8 | c.560A>G (p.Lys187Arg) c.492A>G c.*615A>G (n.*615A>G) c.122A>G (p.Lys41Arg) n.412A>G c.440A>G (p.Lys147Arg) | |
11 | g.68036520A>T | CA381569927 | NDUFS8 | c.560A>T (p.Lys187Met) c.492A>T c.*615A>T (n.*615A>T) c.122A>T (p.Lys41Met) n.412A>T c.440A>T (p.Lys147Met) | |
11 | g.68036521G>A | CA475442867 | NDUFS8 | c.561G>A (p.Lys187=) c.493G>A c.*616G>A (n.*616G>A) c.123G>A (p.Lys41=) n.413G>A c.441G>A (p.Lys147=) | |
11 | g.68036521G>C | CA381569929 | NDUFS8 | c.561G>C (p.Lys187Asn) c.493G>C c.*616G>C (n.*616G>C) c.123G>C (p.Lys41Asn) n.413G>C c.441G>C (p.Lys147Asn) | |
11 | g.68036521G>T | CA381569931 | NDUFS8 | c.561G>T (p.Lys187Asn) c.493G>T c.*616G>T (n.*616G>T) c.123G>T (p.Lys41Asn) n.413G>T c.441G>T (p.Lys147Asn) | |
11 | g.68036522T>A | CA381569935 | NDUFS8 | c.562T>A (p.Leu188Met) c.494T>A c.*617T>A (n.*617T>A) c.124T>A (p.Leu42Met) n.414T>A c.442T>A (p.Leu148Met) | |
11 | g.68036522T>C | CA475442875 | NDUFS8 | c.562T>C (p.Leu188=) c.494T>C c.*617T>C (n.*617T>C) c.124T>C (p.Leu42=) n.414T>C c.442T>C (p.Leu148=) | dbSNP |
11 | g.68036522T>G | CA381569939 | NDUFS8 | c.562T>G (p.Leu188Val) c.494T>G c.*617T>G (n.*617T>G) c.124T>G (p.Leu42Val) n.414T>G c.442T>G (p.Leu148Val) | |
11 | g.68036522T= | CA1980452385 | NDUFS8 | c.562T= (p.Leu188=) c.494T= c.*617T= (n.*617T=) c.124T= (p.Leu42=) n.414T= c.442T= (p.Leu148=) | |
11 | g.68036523T>A | CA381569945 | NDUFS8 | c.563T>A (p.Leu188Ter) c.495T>A c.*618T>A (n.*618T>A) c.125T>A (p.Leu42Ter) n.415T>A c.443T>A (p.Leu148Ter) | |
11 | g.68036523T>C | CA6146567 | NDUFS8 | c.563T>C (p.Leu188Ser) c.495T>C c.*618T>C (n.*618T>C) c.125T>C (p.Leu42Ser) n.415T>C c.443T>C (p.Leu148Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036523T>G | CA381569958 | NDUFS8 | c.563T>G (p.Leu188Trp) c.495T>G c.*618T>G (n.*618T>G) c.125T>G (p.Leu42Trp) n.415T>G c.443T>G (p.Leu148Trp) | |
11 | g.68036523T= | CA1980452389 | NDUFS8 | c.563T= (p.Leu188=) c.495T= c.*618T= (n.*618T=) c.125T= (p.Leu42=) n.415T= c.443T= (p.Leu148=) | |
11 | g.68036524G>A | CA475442883 | NDUFS8 | c.564G>A (p.Leu188=) c.496G>A c.*619G>A (n.*619G>A) c.126G>A (p.Leu42=) n.416G>A c.444G>A (p.Leu148=) | dbSNP |
11 | g.68036524G>C | CA381569963 | NDUFS8 | c.564G>C (p.Leu188Phe) c.496G>C c.*619G>C (n.*619G>C) c.126G>C (p.Leu42Phe) n.416G>C c.444G>C (p.Leu148Phe) | |
11 | g.68036524G= | CA1980452394 | NDUFS8 | c.564G= (p.Leu188=) c.496G= c.*619G= (n.*619G=) c.126G= (p.Leu42=) n.416G= c.444G= (p.Leu148=) | |
11 | g.68036524G>T | CA381569960 | NDUFS8 | c.564G>T (p.Leu188Phe) c.496G>T c.*619G>T (n.*619G>T) c.126G>T (p.Leu42Phe) n.416G>T c.444G>T (p.Leu148Phe) | |
11 | g.68036525C>A | CA381569966 | NDUFS8 | c.565C>A (p.Leu189Ile) c.497C>A c.*620C>A (n.*620C>A) c.127C>A (p.Leu43Ile) n.417C>A c.445C>A (p.Leu149Ile) | |
11 | g.68036525C= | CA1980452397 | NDUFS8 | c.565C= (p.Leu189=) c.497C= c.*620C= (n.*620C=) c.127C= (p.Leu43=) n.417C= c.445C= (p.Leu149=) | |
11 | g.68036525C>G | CA381569973 | NDUFS8 | c.565C>G (p.Leu189Val) c.497C>G c.*620C>G (n.*620C>G) c.127C>G (p.Leu43Val) n.417C>G c.445C>G (p.Leu149Val) | |
11 | g.68036525C>T | CA381569971 | NDUFS8 | c.565C>T (p.Leu189Phe) c.497C>T c.*620C>T (n.*620C>T) c.127C>T (p.Leu43Phe) n.417C>T c.445C>T (p.Leu149Phe) | dbSNP |
11 | g.68036526T>A | CA381569975 | NDUFS8 | c.566T>A (p.Leu189His) c.498T>A c.*621T>A (n.*621T>A) c.128T>A (p.Leu43His) n.418T>A c.446T>A (p.Leu149His) | |
11 | g.68036526T>C | CA381569976 | NDUFS8 | c.566T>C (p.Leu189Pro) c.498T>C c.*621T>C (n.*621T>C) c.128T>C (p.Leu43Pro) n.418T>C c.446T>C (p.Leu149Pro) | |
11 | g.68036526T>G | CA381569977 | NDUFS8 | c.566T>G (p.Leu189Arg) c.498T>G c.*621T>G (n.*621T>G) c.128T>G (p.Leu43Arg) n.418T>G c.446T>G (p.Leu149Arg) | |
11 | g.68036526_68036529delinsTCAA | CA1980452400 | NDUFS8 | c.566_569delinsTCAA (p.Leu189=) c.498_501delinsTCAA c.*621_*624delinsTCAA (n.*621_*624delinsTCAA) c.128_131delinsTCAA (p.Leu43=) n.418_421delinsTCAA c.446_449delinsTCAA (p.Leu149=) | |
11 | g.68036527C>A | CA475442896 | NDUFS8 | c.567C>A (p.Leu189=) c.499C>A c.*622C>A (n.*622C>A) c.129C>A (p.Leu43=) n.419C>A c.447C>A (p.Leu149=) | |
11 | g.68036527C= | CA1980452406 | NDUFS8 | c.567C= (p.Leu189=) c.499C= c.*622C= (n.*622C=) c.129C= (p.Leu43=) n.419C= c.447C= (p.Leu149=) | |
11 | g.68036527C>G | CA475442898 | NDUFS8 | c.567C>G (p.Leu189=) c.499C>G c.*622C>G (n.*622C>G) c.129C>G (p.Leu43=) n.419C>G c.447C>G (p.Leu149=) | |
11 | g.68036527C>T | CA6146568 | NDUFS8 | c.567C>T (p.Leu189=) c.499C>T c.*622C>T (n.*622C>T) c.129C>T (p.Leu43=) n.419C>T c.447C>T (p.Leu149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036531_68036533del | CA679544723 | NDUFS8 | c.571_573del (p.Asn191del) c.503_505del c.*626_*628del (n.*626_*628del) c.133_135del (p.Asn45del) n.423_425del c.451_453del (p.Asn151del) | dbSNP gnomAD v4 |
11 | g.68036528A>C | CA381569981 | NDUFS8 | c.568A>C (p.Asn190His) c.500A>C c.*623A>C (n.*623A>C) c.130A>C (p.Asn44His) n.420A>C c.448A>C (p.Asn150His) | |
11 | g.68036528A>G | CA381569985 | NDUFS8 | c.568A>G (p.Asn190Asp) c.500A>G c.*623A>G (n.*623A>G) c.130A>G (p.Asn44Asp) n.420A>G c.448A>G (p.Asn150Asp) | |
11 | g.68036528A>T | CA381569987 | NDUFS8 | c.568A>T (p.Asn190Tyr) c.500A>T c.*623A>T (n.*623A>T) c.130A>T (p.Asn44Tyr) n.420A>T c.448A>T (p.Asn150Tyr) | |
11 | g.68036529A>C | CA381570009 | NDUFS8 | c.569A>C (p.Asn190Thr) c.501A>C c.*624A>C (n.*624A>C) c.131A>C (p.Asn44Thr) n.421A>C c.449A>C (p.Asn150Thr) | |
11 | g.68036529A>G | CA381570000 | NDUFS8 | c.569A>G (p.Asn190Ser) c.501A>G c.*624A>G (n.*624A>G) c.131A>G (p.Asn44Ser) n.421A>G c.449A>G (p.Asn150Ser) | |
11 | g.68036529A>T | CA381570003 | NDUFS8 | c.569A>T (p.Asn190Ile) c.501A>T c.*624A>T (n.*624A>T) c.131A>T (p.Asn44Ile) n.421A>T c.449A>T (p.Asn150Ile) | |
11 | g.68036530C>A | CA381570020 | NDUFS8 | c.570C>A (p.Asn190Lys) c.502C>A c.*625C>A (n.*625C>A) c.132C>A (p.Asn44Lys) n.422C>A c.450C>A (p.Asn150Lys) | |
11 | g.68036530C>G | CA381570023 | NDUFS8 | c.570C>G (p.Asn190Lys) c.502C>G c.*625C>G (n.*625C>G) c.132C>G (p.Asn44Lys) n.422C>G c.450C>G (p.Asn150Lys) | |
11 | g.68036530C>T | CA475442913 | NDUFS8 | c.570C>T (p.Asn190=) c.502C>T c.*625C>T (n.*625C>T) c.132C>T (p.Asn44=) n.422C>T c.450C>T (p.Asn150=) | |
11 | g.68036531A>C | CA381570029 | NDUFS8 | c.571A>C (p.Asn191His) c.503A>C c.*626A>C (n.*626A>C) c.133A>C (p.Asn45His) n.423A>C c.451A>C (p.Asn151His) | |
11 | g.68036531A>G | CA381570032 | NDUFS8 | c.571A>G (p.Asn191Asp) c.503A>G c.*626A>G (n.*626A>G) c.133A>G (p.Asn45Asp) n.423A>G c.451A>G (p.Asn151Asp) | |
11 | g.68036531A>T | CA381570038 | NDUFS8 | c.571A>T (p.Asn191Tyr) c.503A>T c.*626A>T (n.*626A>T) c.133A>T (p.Asn45Tyr) n.423A>T c.451A>T (p.Asn151Tyr) | |
11 | g.68036532A>C | CA381570044 | NDUFS8 | c.572A>C (p.Asn191Thr) c.504A>C c.*627A>C (n.*627A>C) c.134A>C (p.Asn45Thr) n.424A>C c.452A>C (p.Asn151Thr) | |
11 | g.68036532A>G | CA381570042 | NDUFS8 | c.572A>G (p.Asn191Ser) c.504A>G c.*627A>G (n.*627A>G) c.134A>G (p.Asn45Ser) n.424A>G c.452A>G (p.Asn151Ser) | |
11 | g.68036532A>T | CA381570043 | NDUFS8 | c.572A>T (p.Asn191Ile) c.504A>T c.*627A>T (n.*627A>T) c.134A>T (p.Asn45Ile) n.424A>T c.452A>T (p.Asn151Ile) | |
11 | g.68036533C>A | CA6146570 | NDUFS8 | c.573C>A (p.Asn191Lys) c.505C>A c.*628C>A (n.*628C>A) c.135C>A (p.Asn45Lys) n.425C>A c.453C>A (p.Asn151Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036533C= | CA1980452415 | NDUFS8 | c.573C= (p.Asn191=) c.505C= c.*628C= (n.*628C=) c.135C= (p.Asn45=) n.425C= c.453C= (p.Asn151=) | |
11 | g.68036533C>G | CA381570046 | NDUFS8 | c.573C>G (p.Asn191Lys) c.505C>G c.*628C>G (n.*628C>G) c.135C>G (p.Asn45Lys) n.425C>G c.453C>G (p.Asn151Lys) | |
11 | g.68036533C>T | CA6146569 | NDUFS8 | c.573C>T (p.Asn191=) c.505C>T c.*628C>T (n.*628C>T) c.135C>T (p.Asn45=) n.425C>T c.453C>T (p.Asn151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036534G>A | CA381570056 | NDUFS8 | c.574G>A (p.Gly192Arg) c.506G>A c.*629G>A (n.*629G>A) c.136G>A (p.Gly46Arg) n.426G>A c.454G>A (p.Gly152Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036534G>C | CA381570058 | NDUFS8 | c.574G>C (p.Gly192Arg) c.506G>C c.*629G>C (n.*629G>C) c.136G>C (p.Gly46Arg) n.426G>C c.454G>C (p.Gly152Arg) | |
11 | g.68036534G= | CA1980452423 | NDUFS8 | c.574G= (p.Gly192=) c.506G= c.*629G= (n.*629G=) c.136G= (p.Gly46=) n.426G= c.454G= (p.Gly152=) | |
11 | g.68036534G>T | CA381570061 | NDUFS8 | c.574G>T (p.Gly192Trp) c.506G>T c.*629G>T (n.*629G>T) c.136G>T (p.Gly46Trp) n.426G>T c.454G>T (p.Gly152Trp) | |
11 | g.68036537dup | CA224195136 | NDUFS8 | c.577dup (p.Asp193GlyfsTer14) c.509dup c.139dup (p.Asp47GlyfsTer14) n.429dup c.457dup (p.Asp153GlyfsTer14) | dbSNP |
11 | g.68036535G>A | CA381570064 | NDUFS8 | c.575G>A (p.Gly192Glu) c.507G>A c.*630G>A (n.*630G>A) c.137G>A (p.Gly46Glu) n.427G>A c.455G>A (p.Gly152Glu) | |
11 | g.68036535G>C | CA381570067 | NDUFS8 | c.575G>C (p.Gly192Ala) c.507G>C c.*630G>C (n.*630G>C) c.137G>C (p.Gly46Ala) n.427G>C c.455G>C (p.Gly152Ala) | |
11 | g.68036535G>T | CA381570073 | NDUFS8 | c.575G>T (p.Gly192Val) c.507G>T c.*630G>T (n.*630G>T) c.137G>T (p.Gly46Val) n.427G>T c.455G>T (p.Gly152Val) | |
11 | g.68036536G>A | CA475442936 | NDUFS8 | c.576G>A (p.Gly192=) c.508G>A c.*631G>A (n.*631G>A) c.138G>A (p.Gly46=) n.428G>A c.456G>A (p.Gly152=) | |
11 | g.68036536G>C | CA475442939 | NDUFS8 | c.576G>C (p.Gly192=) c.508G>C c.*631G>C (n.*631G>C) c.138G>C (p.Gly46=) n.428G>C c.456G>C (p.Gly152=) | |
11 | g.68036536G= | CA1980452428 | NDUFS8 | c.576G= (p.Gly192=) c.508G= c.*631G= (n.*631G=) c.138G= (p.Gly46=) n.428G= c.456G= (p.Gly152=) | |
11 | g.68036536G>T | CA16606993 | NDUFS8 | c.576G>T (p.Gly192=) c.508G>T c.*631G>T (n.*631G>T) c.138G>T (p.Gly46=) n.428G>T c.456G>T (p.Gly152=) | ClinVar dbSNP gnomAD v4 |
11 | g.68036537G>A | CA6146571 | NDUFS8 | c.577G>A (p.Asp193Asn) c.509G>A c.*632G>A (n.*632G>A) c.139G>A (p.Asp47Asn) n.429G>A c.457G>A (p.Asp153Asn) | dbSNP ExAC |
11 | g.68036537G>C | CA381570077 | NDUFS8 | c.577G>C (p.Asp193His) c.509G>C c.*632G>C (n.*632G>C) c.139G>C (p.Asp47His) n.429G>C c.457G>C (p.Asp153His) | |
11 | g.68036537G= | CA1980452433 | NDUFS8 | c.577G= (p.Asp193=) c.509G= c.*632G= (n.*632G=) c.139G= (p.Asp47=) n.429G= c.457G= (p.Asp153=) | |
11 | g.68036537G>T | CA381570080 | NDUFS8 | c.577G>T (p.Asp193Tyr) c.509G>T c.*632G>T (n.*632G>T) c.139G>T (p.Asp47Tyr) n.429G>T c.457G>T (p.Asp153Tyr) | |
11 | g.68036538A= | CA1980452437 | NDUFS8 | c.578A= (p.Asp193=) c.510A= c.140A= (p.Asp47=) n.430A= c.458A= (p.Asp153=) | |
11 | g.68036538A>C | CA381570084 | NDUFS8 | c.578A>C (p.Asp193Ala) c.510A>C c.140A>C (p.Asp47Ala) n.430A>C c.458A>C (p.Asp153Ala) | |
11 | g.68036538A>G | CA381570090 | NDUFS8 | c.578A>G (p.Asp193Gly) c.510A>G c.140A>G (p.Asp47Gly) n.430A>G c.458A>G (p.Asp153Gly) | dbSNP gnomAD v4 |
11 | g.68036538A>T | CA381570087 | NDUFS8 | c.578A>T (p.Asp193Val) c.510A>T c.140A>T (p.Asp47Val) n.430A>T c.458A>T (p.Asp153Val) | |
11 | g.68036539C>A | CA381570092 | NDUFS8 | c.579C>A (p.Asp193Glu) c.511C>A c.141C>A (p.Asp47Glu) n.431C>A c.459C>A (p.Asp153Glu) | |
11 | g.68036539C= | CA1980452439 | NDUFS8 | c.579C= (p.Asp193=) c.511C= c.141C= (p.Asp47=) n.431C= c.459C= (p.Asp153=) | |
11 | g.68036539C>G | CA381570096 | NDUFS8 | c.579C>G (p.Asp193Glu) c.511C>G c.141C>G (p.Asp47Glu) n.431C>G c.459C>G (p.Asp153Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68036539C>T | CA475442956 | NDUFS8 | c.579C>T (p.Asp193=) c.511C>T c.141C>T (p.Asp47=) n.431C>T c.459C>T (p.Asp153=) | |
11 | g.68036540A>C | CA381570099 | NDUFS8 | c.580A>C (p.Lys194Gln) c.512A>C c.142A>C (p.Lys48Gln) n.432A>C c.460A>C (p.Lys154Gln) | |
11 | g.68036540A>G | CA381570101 | NDUFS8 | c.580A>G (p.Lys194Glu) c.512A>G c.142A>G (p.Lys48Glu) n.432A>G c.460A>G (p.Lys154Glu) | |
11 | g.68036540A>T | CA381570104 | NDUFS8 | c.580A>T (p.Lys194Ter) c.512A>T c.142A>T (p.Lys48Ter) n.432A>T c.460A>T (p.Lys154Ter) | |
11 | g.68036541A>C | CA381570111 | NDUFS8 | c.581A>C (p.Lys194Thr) c.513A>C c.143A>C (p.Lys48Thr) n.433A>C c.461A>C (p.Lys154Thr) | |
11 | g.68036541A>G | CA381570112 | NDUFS8 | c.581A>G (p.Lys194Arg) c.513A>G c.143A>G (p.Lys48Arg) n.433A>G c.461A>G (p.Lys154Arg) | |
11 | g.68036541A>T | CA381570118 | NDUFS8 | c.581A>T (p.Lys194Met) c.513A>T c.143A>T (p.Lys48Met) n.433A>T c.461A>T (p.Lys154Met) | |
11 | g.68036542G>A | CA475442967 | NDUFS8 | c.582G>A (p.Lys194=) c.514G>A c.144G>A (p.Lys48=) n.434G>A c.462G>A (p.Lys154=) | dbSNP gnomAD v4 |
11 | g.68036542G>C | CA381570120 | NDUFS8 | c.582G>C (p.Lys194Asn) c.514G>C c.144G>C (p.Lys48Asn) n.434G>C c.462G>C (p.Lys154Asn) | |
11 | g.68036542G= | CA1980452443 | NDUFS8 | c.582G= (p.Lys194=) c.514G= c.144G= (p.Lys48=) n.434G= c.462G= (p.Lys154=) | |
11 | g.68036542G>T | CA381570122 | NDUFS8 | c.582G>T (p.Lys194Asn) c.514G>T c.144G>T (p.Lys48Asn) n.434G>T c.462G>T (p.Lys154Asn) | |
11 | g.68036543T>A | CA381570125 | NDUFS8 | c.583T>A (p.Trp195Arg) c.515T>A c.145T>A (p.Trp49Arg) n.435T>A c.463T>A (p.Trp155Arg) | |
11 | g.68036543T>C | CA381570136 | NDUFS8 | c.583T>C (p.Trp195Arg) c.515T>C c.145T>C (p.Trp49Arg) n.435T>C c.463T>C (p.Trp155Arg) | |
11 | g.68036543T>G | CA381570139 | NDUFS8 | c.583T>G (p.Trp195Gly) c.515T>G c.145T>G (p.Trp49Gly) n.435T>G c.463T>G (p.Trp155Gly) | |
11 | g.68036544G>A | CA381570148 | NDUFS8 | c.584G>A (p.Trp195Ter) c.516G>A c.146G>A (p.Trp49Ter) n.436G>A c.464G>A (p.Trp155Ter) | |
11 | g.68036544G>C | CA381570141 | NDUFS8 | c.584G>C (p.Trp195Ser) c.516G>C c.146G>C (p.Trp49Ser) n.436G>C c.464G>C (p.Trp155Ser) | gnomAD v4 |
11 | g.68036544G>T | CA381570145 | NDUFS8 | c.584G>T (p.Trp195Leu) c.516G>T c.146G>T (p.Trp49Leu) n.436G>T c.464G>T (p.Trp155Leu) | |
11 | g.68036545G>A | CA381570155 | NDUFS8 | c.585G>A (p.Trp195Ter) c.517G>A c.147G>A (p.Trp49Ter) n.437G>A c.465G>A (p.Trp155Ter) | ClinVar dbSNP |
11 | g.68036545G>C | CA381570167 | NDUFS8 | c.585G>C (p.Trp195Cys) c.517G>C c.147G>C (p.Trp49Cys) n.437G>C c.465G>C (p.Trp155Cys) | |
11 | g.68036545G>T | CA381570170 | NDUFS8 | c.585G>T (p.Trp195Cys) c.517G>T c.147G>T (p.Trp49Cys) n.437G>T c.465G>T (p.Trp155Cys) | |
11 | g.68036546G>A | CA381570175 | NDUFS8 | c.586G>A (p.Glu196Lys) c.518G>A c.148G>A (p.Glu50Lys) n.438G>A c.466G>A (p.Glu156Lys) | gnomAD v4 |
11 | g.68036546G>C | CA381570177 | NDUFS8 | c.586G>C (p.Glu196Gln) c.518G>C c.148G>C (p.Glu50Gln) n.438G>C c.466G>C (p.Glu156Gln) | |
11 | g.68036546G>T | CA381570180 | NDUFS8 | c.586G>T (p.Glu196Ter) c.518G>T c.148G>T (p.Glu50Ter) n.438G>T c.466G>T (p.Glu156Ter) | |
11 | g.68036547A= | CA1980452446 | NDUFS8 | c.587A= (p.Glu196=) c.519A= c.149A= (p.Glu50=) n.439A= c.467A= (p.Glu156=) | |
11 | g.68036547A>C | CA381570183 | NDUFS8 | c.587A>C (p.Glu196Ala) c.519A>C c.149A>C (p.Glu50Ala) n.439A>C c.467A>C (p.Glu156Ala) | |
11 | g.68036547A>G | CA381570185 | NDUFS8 | c.587A>G (p.Glu196Gly) c.519A>G c.149A>G (p.Glu50Gly) n.439A>G c.467A>G (p.Glu156Gly) | dbSNP |
11 | g.68036547A>T | CA381570188 | NDUFS8 | c.587A>T (p.Glu196Val) c.519A>T c.149A>T (p.Glu50Val) n.439A>T c.467A>T (p.Glu156Val) | |
11 | g.68036548G>A | CA475442993 | NDUFS8 | c.588G>A (p.Glu196=) c.520G>A c.150G>A (p.Glu50=) n.440G>A c.468G>A (p.Glu156=) | |
11 | g.68036548G>C | CA381570194 | NDUFS8 | c.588G>C (p.Glu196Asp) c.520G>C c.150G>C (p.Glu50Asp) n.440G>C c.468G>C (p.Glu156Asp) | |
11 | g.68036548G= | CA1980452448 | NDUFS8 | c.588G= (p.Glu196=) c.520G= c.150G= (p.Glu50=) n.440G= c.468G= (p.Glu156=) | |
11 | g.68036548G>T | CA381570196 | NDUFS8 | c.588G>T (p.Glu196Asp) c.520G>T c.150G>T (p.Glu50Asp) n.440G>T c.468G>T (p.Glu156Asp) | dbSNP gnomAD v2 |
11 | g.68036549G>A | CA381570200 | NDUFS8 | c.589G>A (p.Ala197Thr) c.521G>A c.151G>A (p.Ala51Thr) n.441G>A c.469G>A (p.Ala157Thr) | dbSNP |
11 | g.68036549G>C | CA381570209 | NDUFS8 | c.589G>C (p.Ala197Pro) c.521G>C c.151G>C (p.Ala51Pro) n.441G>C c.469G>C (p.Ala157Pro) | |
11 | g.68036549G= | CA1980452451 | NDUFS8 | c.589G= (p.Ala197=) c.521G= c.151G= (p.Ala51=) n.441G= c.469G= (p.Ala157=) | |
11 | g.68036549G>T | CA381570206 | NDUFS8 | c.589G>T (p.Ala197Ser) c.521G>T c.151G>T (p.Ala51Ser) n.441G>T c.469G>T (p.Ala157Ser) | |
11 | g.68036550C>A | CA381570225 | NDUFS8 | c.590C>A (p.Ala197Asp) c.522C>A c.152C>A (p.Ala51Asp) n.442C>A c.470C>A (p.Ala157Asp) | |
11 | g.68036550C>G | CA381570229 | NDUFS8 | c.590C>G (p.Ala197Gly) c.522C>G c.152C>G (p.Ala51Gly) n.442C>G c.470C>G (p.Ala157Gly) | |
11 | g.68036550C>T | CA381570231 | NDUFS8 | c.590C>T (p.Ala197Val) c.522C>T c.152C>T (p.Ala51Val) n.442C>T c.470C>T (p.Ala157Val) | |
11 | g.68036551C>A | CA475443008 | NDUFS8 | c.591C>A (p.Ala197=) c.523C>A c.153C>A (p.Ala51=) n.443C>A c.471C>A (p.Ala157=) | |
11 | g.68036551C= | CA1980452455 | NDUFS8 | c.591C= (p.Ala197=) c.523C= c.153C= (p.Ala51=) n.443C= c.471C= (p.Ala157=) | |
11 | g.68036551C>G | CA224195140 | NDUFS8 | c.591C>G (p.Ala197=) c.523C>G c.153C>G (p.Ala51=) n.443C>G c.471C>G (p.Ala157=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68036551C>T | CA6146572 | NDUFS8 | c.591C>T (p.Ala197=) c.523C>T c.153C>T (p.Ala51=) n.443C>T c.471C>T (p.Ala157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036552G>A | CA381570238 | NDUFS8 | c.592G>A (p.Glu198Lys) c.524G>A c.154G>A (p.Glu52Lys) n.444G>A c.472G>A (p.Glu158Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036552G>C | CA381570242 | NDUFS8 | c.592G>C (p.Glu198Gln) c.524G>C c.154G>C (p.Glu52Gln) n.444G>C c.472G>C (p.Glu158Gln) | dbSNP gnomAD v4 |
11 | g.68036552G= | CA1980452458 | NDUFS8 | c.592G= (p.Glu198=) c.524G= c.154G= (p.Glu52=) n.444G= c.472G= (p.Glu158=) | |
11 | g.68036552G>T | CA381570245 | NDUFS8 | c.592G>T (p.Glu198Ter) c.524G>T c.154G>T (p.Glu52Ter) n.444G>T c.472G>T (p.Glu158Ter) | |
11 | g.68036553A= | CA1980452462 | NDUFS8 | c.593A= (p.Glu198=) c.525A= c.155A= (p.Glu52=) n.445A= c.473A= (p.Glu158=) | |
11 | g.68036553A>C | CA381570257 | NDUFS8 | c.593A>C (p.Glu198Ala) c.525A>C c.155A>C (p.Glu52Ala) n.445A>C c.473A>C (p.Glu158Ala) | |
11 | g.68036553A>G | CA224195149 | NDUFS8 | c.593A>G (p.Glu198Gly) c.525A>G c.155A>G (p.Glu52Gly) n.445A>G c.473A>G (p.Glu158Gly) | dbSNP |
11 | g.68036553A>T | CA381570254 | NDUFS8 | c.593A>T (p.Glu198Val) c.525A>T c.155A>T (p.Glu52Val) n.445A>T c.473A>T (p.Glu158Val) | |
11 | g.68036554G>A | CA475443022 | NDUFS8 | c.594G>A (p.Glu198=) c.526G>A c.156G>A (p.Glu52=) n.446G>A c.474G>A (p.Glu158=) | gnomAD v4 |
11 | g.68036554G>C | CA381570261 | NDUFS8 | c.594G>C (p.Glu198Asp) c.526G>C c.156G>C (p.Glu52Asp) n.446G>C c.474G>C (p.Glu158Asp) | |
11 | g.68036554G= | CA1980452466 | NDUFS8 | c.594G= (p.Glu198=) c.526G= c.156G= (p.Glu52=) n.446G= c.474G= (p.Glu158=) | |
11 | g.68036554G>T | CA6146573 | NDUFS8 | c.594G>T (p.Glu198Asp) c.526G>T c.156G>T (p.Glu52Asp) n.446G>T c.474G>T (p.Glu158Asp) | dbSNP ExAC gnomAD v2 |
11 | g.68036555A>C | CA381570271 | NDUFS8 | c.595A>C (p.Ile199Leu) c.527A>C c.157A>C (p.Ile53Leu) n.447A>C c.475A>C (p.Ile159Leu) | |
11 | g.68036555A>G | CA381570275 | NDUFS8 | c.595A>G (p.Ile199Val) c.527A>G c.157A>G (p.Ile53Val) n.447A>G c.475A>G (p.Ile159Val) | |
11 | g.68036555A>T | CA381570279 | NDUFS8 | c.595A>T (p.Ile199Phe) c.527A>T c.157A>T (p.Ile53Phe) n.447A>T c.475A>T (p.Ile159Phe) | |
11 | g.68036556T>A | CA381570281 | NDUFS8 | c.596T>A (p.Ile199Asn) c.528T>A c.158T>A (p.Ile53Asn) n.448T>A c.476T>A (p.Ile159Asn) | |
11 | g.68036556T>C | CA381570287 | NDUFS8 | c.596T>C (p.Ile199Thr) c.528T>C c.158T>C (p.Ile53Thr) n.448T>C c.476T>C (p.Ile159Thr) | |
11 | g.68036556T>G | CA381570284 | NDUFS8 | c.596T>G (p.Ile199Ser) c.528T>G c.158T>G (p.Ile53Ser) n.448T>G c.476T>G (p.Ile159Ser) | |
11 | g.68036556_68036559delinsTCGC | CA1980452469 | NDUFS8 | c.596_599delinsTCGC (p.Ile199=) c.528_531delinsTCGC c.158_161delinsTCGC (p.Ile53=) n.448_451delinsTCGC c.476_479delinsTCGC (p.Ile159=) | |
11 | g.68036557del | CA2614692982 | NDUFS8 | c.597del (p.Ile199MetfsTer?) c.529del c.159del (p.Ile53MetfsTer?) n.449del c.477del (p.Ile159MetfsTer?) | gnomAD v4 |
11 | g.68036557C>A | CA224195190 | NDUFS8 | c.597C>A (p.Ile199=) c.529C>A c.159C>A (p.Ile53=) n.449C>A c.477C>A (p.Ile159=) | dbSNP |
11 | g.68036557C= | CA1980452474 | NDUFS8 | c.597C= (p.Ile199=) c.529C= c.159C= (p.Ile53=) n.449C= c.477C= (p.Ile159=) | |
11 | g.68036557C>G | CA6146576 | NDUFS8 | c.597C>G (p.Ile199Met) c.529C>G c.159C>G (p.Ile53Met) n.449C>G c.477C>G (p.Ile159Met) | dbSNP ExAC |
11 | g.68036557C>T | CA6146575 | NDUFS8 | c.597C>T (p.Ile199=) c.529C>T c.159C>T (p.Ile53=) n.449C>T c.477C>T (p.Ile159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036561_68036563del | CA6146574 | NDUFS8 | c.601_603del (p.Ala201del) c.533_535del c.163_165del (p.Ala55del) n.453_455del c.481_483del (p.Ala161del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036558G>A | CA6146577 | NDUFS8 | c.598G>A (p.Ala200Thr) c.530G>A c.160G>A (p.Ala54Thr) n.450G>A c.478G>A (p.Ala160Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036558G>C | CA381570310 | NDUFS8 | c.598G>C (p.Ala200Pro) c.530G>C c.160G>C (p.Ala54Pro) n.450G>C c.478G>C (p.Ala160Pro) | |
11 | g.68036558G= | CA1980452480 | NDUFS8 | c.598G= (p.Ala200=) c.530G= c.160G= (p.Ala54=) n.450G= c.478G= (p.Ala160=) | |
11 | g.68036558G>T | CA381570316 | NDUFS8 | c.598G>T (p.Ala200Ser) c.530G>T c.160G>T (p.Ala54Ser) n.450G>T c.478G>T (p.Ala160Ser) | |
11 | g.68036559C>A | CA381570323 | NDUFS8 | c.599C>A (p.Ala200Asp) c.531C>A c.161C>A (p.Ala54Asp) n.451C>A c.479C>A (p.Ala160Asp) | |
11 | g.68036559C>G | CA381570326 | NDUFS8 | c.599C>G (p.Ala200Gly) c.531C>G c.161C>G (p.Ala54Gly) n.451C>G c.479C>G (p.Ala160Gly) | |
11 | g.68036559C>T | CA381570328 | NDUFS8 | c.599C>T (p.Ala200Val) c.531C>T c.161C>T (p.Ala54Val) n.451C>T c.479C>T (p.Ala160Val) | |
11 | g.68036560_68036566del | CA2573320506 | NDUFS8 | c.600_606del (p.Ala201SerfsTer?) c.532_538del c.162_168del (p.Ala55SerfsTer?) n.452_458del c.480_486del (p.Ala161SerfsTer?) | |
11 | g.68036560C>A | CA475443036 | NDUFS8 | c.600C>A (p.Ala200=) c.532C>A c.162C>A (p.Ala54=) n.452C>A c.480C>A (p.Ala160=) | dbSNP gnomAD v4 |
11 | g.68036560C= | CA1980452484 | NDUFS8 | c.600C= (p.Ala200=) c.532C= c.162C= (p.Ala54=) n.452C= c.480C= (p.Ala160=) | |
11 | g.68036560C>G | CA475443037 | NDUFS8 | c.600C>G (p.Ala200=) c.532C>G c.162C>G (p.Ala54=) n.452C>G c.480C>G (p.Ala160=) | gnomAD v4 |
11 | g.68036560C>T | CA6146578 | NDUFS8 | c.600C>T (p.Ala200=) c.532C>T c.162C>T (p.Ala54=) n.452C>T c.480C>T (p.Ala160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036561G>A | CA6146579 | NDUFS8 | c.601G>A (p.Ala201Thr) c.533G>A c.163G>A (p.Ala55Thr) n.453G>A c.481G>A (p.Ala161Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036561G>C | CA381570334 | NDUFS8 | c.601G>C (p.Ala201Pro) c.533G>C c.163G>C (p.Ala55Pro) n.453G>C c.481G>C (p.Ala161Pro) | |
11 | g.68036561G= | CA1980452489 | NDUFS8 | c.601G= (p.Ala201=) c.533G= c.163G= (p.Ala55=) n.453G= c.481G= (p.Ala161=) | |
11 | g.68036561G>T | CA224195245 | NDUFS8 | c.601G>T (p.Ala201Ser) c.533G>T c.163G>T (p.Ala55Ser) n.453G>T c.481G>T (p.Ala161Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036562C>A | CA381570338 | NDUFS8 | c.602C>A (p.Ala201Asp) c.534C>A c.164C>A (p.Ala55Asp) n.454C>A c.482C>A (p.Ala161Asp) | |
11 | g.68036562C>G | CA381570340 | NDUFS8 | c.602C>G (p.Ala201Gly) c.534C>G c.164C>G (p.Ala55Gly) n.454C>G c.482C>G (p.Ala161Gly) | |
11 | g.68036562C>T | CA381570342 | NDUFS8 | c.602C>T (p.Ala201Val) c.534C>T c.164C>T (p.Ala55Val) n.454C>T c.482C>T (p.Ala161Val) | gnomAD v4 |
11 | g.68036563C>A | CA475443052 | NDUFS8 | c.603C>A (p.Ala201=) c.535C>A c.165C>A (p.Ala55=) n.455C>A c.483C>A (p.Ala161=) | |
11 | g.68036563C= | CA1980452493 | NDUFS8 | c.603C= (p.Ala201=) c.535C= c.165C= (p.Ala55=) n.455C= c.483C= (p.Ala161=) | |
11 | g.68036563C>G | CA475443054 | NDUFS8 | c.603C>G (p.Ala201=) c.535C>G c.165C>G (p.Ala55=) n.455C>G c.483C>G (p.Ala161=) | dbSNP |
11 | g.68036563C>T | CA475443056 | NDUFS8 | c.603C>T (p.Ala201=) c.535C>T c.165C>T (p.Ala55=) n.455C>T c.483C>T (p.Ala161=) | |
11 | g.68036564A>C | CA381570346 | NDUFS8 | c.604A>C (p.Asn202His) c.536A>C c.166A>C (p.Asn56His) n.456A>C c.484A>C (p.Asn162His) | |
11 | g.68036564A>G | CA381570347 | NDUFS8 | c.604A>G (p.Asn202Asp) c.536A>G c.166A>G (p.Asn56Asp) n.456A>G c.484A>G (p.Asn162Asp) | COSMIC |
11 | g.68036564A>T | CA381570349 | NDUFS8 | c.604A>T (p.Asn202Tyr) c.536A>T c.166A>T (p.Asn56Tyr) n.456A>T c.484A>T (p.Asn162Tyr) | |
11 | g.68036565del | CA2574899200 | NDUFS8 | c.605del (p.Asn202ThrfsTer?) c.537del c.167del (p.Asn56ThrfsTer?) n.457del c.485del (p.Asn162ThrfsTer?) | ClinVar gnomAD v4 |
11 | g.68036565A= | CA1980452495 | NDUFS8 | c.605A= (p.Asn202=) c.537A= c.167A= (p.Asn56=) n.457A= c.485A= (p.Asn162=) | |
11 | g.68036565A>C | CA381570353 | NDUFS8 | c.605A>C (p.Asn202Thr) c.537A>C c.167A>C (p.Asn56Thr) n.457A>C c.485A>C (p.Asn162Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036565A>G | CA381570357 | NDUFS8 | c.605A>G (p.Asn202Ser) c.537A>G c.167A>G (p.Asn56Ser) n.457A>G c.485A>G (p.Asn162Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036565A>T | CA381570360 | NDUFS8 | c.605A>T (p.Asn202Ile) c.537A>T c.167A>T (p.Asn56Ile) n.457A>T c.485A>T (p.Asn162Ile) | |
11 | g.68036566C>A | CA381570363 | NDUFS8 | c.606C>A (p.Asn202Lys) c.538C>A c.168C>A (p.Asn56Lys) n.458C>A c.486C>A (p.Asn162Lys) | gnomAD v4 |
11 | g.68036566C>G | CA381570364 | NDUFS8 | c.606C>G (p.Asn202Lys) c.538C>G c.168C>G (p.Asn56Lys) n.458C>G c.486C>G (p.Asn162Lys) | |
11 | g.68036566C>T | CA475443069 | NDUFS8 | c.606C>T (p.Asn202=) c.538C>T c.168C>T (p.Asn56=) n.458C>T c.486C>T (p.Asn162=) | |
11 | g.68036567A>C | CA381570379 | NDUFS8 | c.607A>C (p.Ile203Leu) c.539A>C c.169A>C (p.Ile57Leu) n.459A>C c.487A>C (p.Ile163Leu) | |
11 | g.68036567A>G | CA381570375 | NDUFS8 | c.607A>G (p.Ile203Val) c.539A>G c.169A>G (p.Ile57Val) n.459A>G c.487A>G (p.Ile163Val) | |
11 | g.68036567A>T | CA381570369 | NDUFS8 | c.607A>T (p.Ile203Phe) c.539A>T c.169A>T (p.Ile57Phe) n.459A>T c.487A>T (p.Ile163Phe) | |
11 | g.68036568T>A | CA381570382 | NDUFS8 | c.608T>A (p.Ile203Asn) c.540T>A c.170T>A (p.Ile57Asn) n.460T>A c.488T>A (p.Ile163Asn) | |
11 | g.68036568T>C | CA381570385 | NDUFS8 | c.608T>C (p.Ile203Thr) c.540T>C c.170T>C (p.Ile57Thr) n.460T>C c.488T>C (p.Ile163Thr) | |
11 | g.68036568T>G | CA381570387 | NDUFS8 | c.608T>G (p.Ile203Ser) c.540T>G c.170T>G (p.Ile57Ser) n.460T>G c.488T>G (p.Ile163Ser) | |
11 | g.68036569C>A | CA475443082 | NDUFS8 | c.609C>A (p.Ile203=) c.541C>A c.171C>A (p.Ile57=) n.461C>A c.489C>A (p.Ile163=) | |
11 | g.68036569C= | CA1980452498 | NDUFS8 | c.609C= (p.Ile203=) c.541C= c.171C= (p.Ile57=) n.461C= c.489C= (p.Ile163=) | |
11 | g.68036569C>G | CA381570390 | NDUFS8 | c.609C>G (p.Ile203Met) c.541C>G c.171C>G (p.Ile57Met) n.461C>G c.489C>G (p.Ile163Met) | dbSNP |
11 | g.68036569C>T | CA475443085 | NDUFS8 | c.609C>T (p.Ile203=) c.541C>T c.171C>T (p.Ile57=) n.461C>T c.489C>T (p.Ile163=) | |
11 | g.68036570C>A | CA381570391 | NDUFS8 | c.610C>A (p.Gln204Lys) c.542C>A c.172C>A (p.Gln58Lys) n.462C>A c.490C>A (p.Gln164Lys) | |
11 | g.68036570C= | CA1980452502 | NDUFS8 | c.610C= (p.Gln204=) c.542C= c.172C= (p.Gln58=) n.462C= c.490C= (p.Gln164=) | |
11 | g.68036570C>G | CA381570392 | NDUFS8 | c.610C>G (p.Gln204Glu) c.542C>G c.172C>G (p.Gln58Glu) n.462C>G c.490C>G (p.Gln164Glu) | |
11 | g.68036570C>T | CA6146580 | NDUFS8 | c.610C>T (p.Gln204Ter) c.542C>T c.172C>T (p.Gln58Ter) n.462C>T c.490C>T (p.Gln164Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036571A= | CA1980452509 | NDUFS8 | c.611A= (p.Gln204=) c.543A= c.173A= (p.Gln58=) n.463A= c.491A= (p.Gln164=) | |
11 | g.68036571A>C | CA381570394 | NDUFS8 | c.611A>C (p.Gln204Pro) c.543A>C c.173A>C (p.Gln58Pro) n.463A>C c.491A>C (p.Gln164Pro) | |
11 | g.68036571A>G | CA381570396 | NDUFS8 | c.611A>G (p.Gln204Arg) c.543A>G c.173A>G (p.Gln58Arg) n.463A>G c.491A>G (p.Gln164Arg) | gnomAD v4 |
11 | g.68036571A>T | CA322342 | NDUFS8 | c.611A>T (p.Gln204Leu) c.543A>T c.173A>T (p.Gln58Leu) n.463A>T c.491A>T (p.Gln164Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036572G>A | CA475443101 | NDUFS8 | c.612G>A (p.Gln204=) c.544G>A c.174G>A (p.Gln58=) n.464G>A c.492G>A (p.Gln164=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68036572G>C | CA381570405 | NDUFS8 | c.612G>C (p.Gln204His) c.544G>C c.174G>C (p.Gln58His) n.464G>C c.492G>C (p.Gln164His) | |
11 | g.68036572G= | CA1980452512 | NDUFS8 | c.612G= (p.Gln204=) c.544G= c.174G= (p.Gln58=) n.464G= c.492G= (p.Gln164=) | |
11 | g.68036572G>T | CA381570408 | NDUFS8 | c.612G>T (p.Gln204His) c.544G>T c.174G>T (p.Gln58His) n.464G>T c.492G>T (p.Gln164His) | |
11 | g.68036573G>A | CA381570413 | NDUFS8 | c.613G>A (p.Ala205Thr) c.545G>A c.175G>A (p.Ala59Thr) n.465G>A c.493G>A (p.Ala165Thr) | |
11 | g.68036573G>C | CA381570412 | NDUFS8 | c.613G>C (p.Ala205Pro) c.545G>C c.175G>C (p.Ala59Pro) n.465G>C c.493G>C (p.Ala165Pro) | |
11 | g.68036573G= | CA1980452514 | NDUFS8 | c.613G= (p.Ala205=) c.545G= c.175G= (p.Ala59=) n.465G= c.493G= (p.Ala165=) | |
11 | g.68036573G>T | CA381570410 | NDUFS8 | c.613G>T (p.Ala205Ser) c.545G>T c.175G>T (p.Ala59Ser) n.465G>T c.493G>T (p.Ala165Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036573_68036577delinsGCTGA | CA1980452516 | NDUFS8 | c.613_617delinsGCTGA (p.Ala205=) c.545_549delinsGCTGA c.175_179delinsGCTGA (p.Ala59=) n.465_469delinsGCTGA c.493_497delinsGCTGA (p.Ala165=) | |
11 | g.68036574C>A | CA381570416 | NDUFS8 | c.614C>A (p.Ala205Asp) c.546C>A c.176C>A (p.Ala59Asp) n.466C>A c.494C>A (p.Ala165Asp) | |
11 | g.68036574C>G | CA381570419 | NDUFS8 | c.614C>G (p.Ala205Gly) c.546C>G c.176C>G (p.Ala59Gly) n.466C>G c.494C>G (p.Ala165Gly) | gnomAD v4 |
11 | g.68036574C>T | CA381570418 | NDUFS8 | c.614C>T (p.Ala205Val) c.546C>T c.176C>T (p.Ala59Val) n.466C>T c.494C>T (p.Ala165Val) | |
11 | g.68036576_68036579del | CA1980452519 | NDUFS8 | c.616_619del (p.Asp206ThrfsTer?) c.548_551del c.178_181del (p.Asp60ThrfsTer?) n.468_471del c.496_499del (p.Asp166ThrfsTer?) | dbSNP gnomAD v4 |
11 | g.68036575T>A | CA475443112 | NDUFS8 | c.615T>A (p.Ala205=) c.547T>A c.177T>A (p.Ala59=) n.467T>A c.495T>A (p.Ala165=) | |
11 | g.68036575T>C | CA475443114 | NDUFS8 | c.615T>C (p.Ala205=) c.547T>C c.177T>C (p.Ala59=) n.467T>C c.495T>C (p.Ala165=) | gnomAD v4 |
11 | g.68036575T>G | CA475443116 | NDUFS8 | c.615T>G (p.Ala205=) c.547T>G c.177T>G (p.Ala59=) n.467T>G c.495T>G (p.Ala165=) | |
11 | g.68036576G>A | CA381570420 | NDUFS8 | c.616G>A (p.Asp206Asn) c.548G>A c.178G>A (p.Asp60Asn) n.468G>A c.496G>A (p.Asp166Asn) | gnomAD v4 |
11 | g.68036576G>C | CA381570423 | NDUFS8 | c.616G>C (p.Asp206His) c.548G>C c.178G>C (p.Asp60His) n.468G>C c.496G>C (p.Asp166His) | |
11 | g.68036576G>T | CA381570421 | NDUFS8 | c.616G>T (p.Asp206Tyr) c.548G>T c.178G>T (p.Asp60Tyr) n.468G>T c.496G>T (p.Asp166Tyr) | |
11 | g.68036577A= | CA1980452521 | NDUFS8 | c.617A= (p.Asp206=) c.549A= c.179A= (p.Asp60=) n.469A= c.497A= (p.Asp166=) | |
11 | g.68036577A>C | CA381570426 | NDUFS8 | c.617A>C (p.Asp206Ala) c.549A>C c.179A>C (p.Asp60Ala) n.469A>C c.497A>C (p.Asp166Ala) | |
11 | g.68036577A>G | CA381570428 | NDUFS8 | c.617A>G (p.Asp206Gly) c.549A>G c.179A>G (p.Asp60Gly) n.469A>G c.497A>G (p.Asp166Gly) | |
11 | g.68036577A>T | CA381570431 | NDUFS8 | c.617A>T (p.Asp206Val) c.549A>T c.179A>T (p.Asp60Val) n.469A>T c.497A>T (p.Asp166Val) | dbSNP |
11 | g.68036578C>A | CA381570435 | NDUFS8 | c.618C>A (p.Asp206Glu) c.550C>A c.180C>A (p.Asp60Glu) n.470C>A c.498C>A (p.Asp166Glu) | |
11 | g.68036578C>G | CA381570436 | NDUFS8 | c.618C>G (p.Asp206Glu) c.550C>G c.180C>G (p.Asp60Glu) n.470C>G c.498C>G (p.Asp166Glu) | |
11 | g.68036578C>T | CA475443129 | NDUFS8 | c.618C>T (p.Asp206=) c.550C>T c.180C>T (p.Asp60=) n.470C>T c.498C>T (p.Asp166=) | |
11 | g.68036579T>A | CA381570437 | NDUFS8 | c.619T>A (p.Tyr207Asn) c.551T>A c.181T>A (p.Tyr61Asn) n.471T>A c.499T>A (p.Tyr167Asn) | |
11 | g.68036579T>C | CA381570438 | NDUFS8 | c.619T>C (p.Tyr207His) c.551T>C c.181T>C (p.Tyr61His) n.471T>C c.499T>C (p.Tyr167His) | dbSNP |
11 | g.68036579T>G | CA381570439 | NDUFS8 | c.619T>G (p.Tyr207Asp) c.551T>G c.181T>G (p.Tyr61Asp) n.471T>G c.499T>G (p.Tyr167Asp) | |
11 | g.68036579T= | CA1980452524 | NDUFS8 | c.619T= (p.Tyr207=) c.551T= c.181T= (p.Tyr61=) n.471T= c.499T= (p.Tyr167=) | |
11 | g.68036580A>C | CA381570442 | NDUFS8 | c.620A>C (p.Tyr207Ser) c.552A>C c.182A>C (p.Tyr61Ser) n.472A>C c.500A>C (p.Tyr167Ser) | gnomAD v4 |
11 | g.68036580A>G | CA381570446 | NDUFS8 | c.620A>G (p.Tyr207Cys) c.552A>G c.182A>G (p.Tyr61Cys) n.472A>G c.500A>G (p.Tyr167Cys) | |
11 | g.68036580A>T | CA381570455 | NDUFS8 | c.620A>T (p.Tyr207Phe) c.552A>T c.182A>T (p.Tyr61Phe) n.472A>T c.500A>T (p.Tyr167Phe) | gnomAD v4 |
11 | g.68036580_68036583delinsACTT | CA1980452528 | NDUFS8 | c.620_623delinsACTT (p.Tyr207=) c.552_555delinsACTT c.182_185delinsACTT (p.Tyr61=) n.472_475delinsACTT c.500_503delinsACTT (p.Tyr167=) | |
11 | g.68036581C>A | CA381570457 | NDUFS8 | c.621C>A (p.Tyr207Ter) c.553C>A c.183C>A (p.Tyr61Ter) n.473C>A c.501C>A (p.Tyr167Ter) | |
11 | g.68036581C= | CA1980452532 | NDUFS8 | c.621C= (p.Tyr207=) c.553C= c.183C= (p.Tyr61=) n.473C= c.501C= (p.Tyr167=) | |
11 | g.68036581C>G | CA6146581 | NDUFS8 | c.621C>G (p.Tyr207Ter) c.553C>G c.183C>G (p.Tyr61Ter) n.473C>G c.501C>G (p.Tyr167Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036581C>T | CA475443144 | NDUFS8 | c.621C>T (p.Tyr207=) c.553C>T c.183C>T (p.Tyr61=) n.473C>T c.501C>T (p.Tyr167=) | |
11 | g.68036581_68036583del | CA1980452530 | NDUFS8 | c.621_623del (p.Tyr207Ter) c.553_555del c.183_185del (p.Tyr61Ter) n.473_475del c.501_503del (p.Tyr167Ter) | dbSNP gnomAD v4 |
11 | g.68036582T>A | CA381570460 | NDUFS8 | c.622T>A (p.Leu208Met) c.554T>A c.184T>A (p.Leu62Met) n.474T>A c.502T>A (p.Leu168Met) | |
11 | g.68036582T>C | CA475443147 | NDUFS8 | c.622T>C (p.Leu208=) c.554T>C c.184T>C (p.Leu62=) n.474T>C c.502T>C (p.Leu168=) | dbSNP |
11 | g.68036582T>G | CA381570461 | NDUFS8 | c.622T>G (p.Leu208Val) c.554T>G c.184T>G (p.Leu62Val) n.474T>G c.502T>G (p.Leu168Val) | |
11 | g.68036582T= | CA1980452536 | NDUFS8 | c.622T= (p.Leu208=) c.554T= c.184T= (p.Leu62=) n.474T= c.502T= (p.Leu168=) | |
11 | g.68036583T>A | CA381570462 | NDUFS8 | c.623T>A (p.Leu208Ter) c.555T>A c.185T>A (p.Leu62Ter) n.475T>A c.503T>A (p.Leu168Ter) | dbSNP |
11 | g.68036583T>C | CA381570463 | NDUFS8 | c.623T>C (p.Leu208Ser) c.555T>C c.185T>C (p.Leu62Ser) n.475T>C c.503T>C (p.Leu168Ser) | |
11 | g.68036583T>G | CA381570464 | NDUFS8 | c.623T>G (p.Leu208Trp) c.555T>G c.185T>G (p.Leu62Trp) n.475T>G c.503T>G (p.Leu168Trp) | |
11 | g.68036583T= | CA1980452538 | NDUFS8 | c.623T= (p.Leu208=) c.555T= c.185T= (p.Leu62=) n.475T= c.503T= (p.Leu168=) | |
11 | g.68036584G>A | CA6146582 | NDUFS8 | c.624G>A (p.Leu208=) c.556G>A c.186G>A (p.Leu62=) n.476G>A c.504G>A (p.Leu168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036584G>C | CA381570468 | NDUFS8 | c.624G>C (p.Leu208Phe) c.556G>C c.186G>C (p.Leu62Phe) n.476G>C c.504G>C (p.Leu168Phe) | |
11 | g.68036584G= | CA1980452542 | NDUFS8 | c.624G= (p.Leu208=) c.556G= c.186G= (p.Leu62=) n.476G= c.504G= (p.Leu168=) | |
11 | g.68036584G>T | CA381570474 | NDUFS8 | c.624G>T (p.Leu208Phe) c.556G>T c.186G>T (p.Leu62Phe) n.476G>T c.504G>T (p.Leu168Phe) | |
11 | g.68036585T>A | CA381570480 | NDUFS8 | c.625T>A (p.Tyr209Asn) c.557T>A c.187T>A (p.Tyr63Asn) n.477T>A c.505T>A (p.Tyr169Asn) | |
11 | g.68036585T>C | CA381570482 | NDUFS8 | c.625T>C (p.Tyr209His) c.557T>C c.187T>C (p.Tyr63His) n.477T>C c.505T>C (p.Tyr169His) | |
11 | g.68036585T>G | CA381570486 | NDUFS8 | c.625T>G (p.Tyr209Asp) c.557T>G c.187T>G (p.Tyr63Asp) n.477T>G c.505T>G (p.Tyr169Asp) | |
11 | g.68036586A>C | CA381570517 | NDUFS8 | c.626A>C (p.Tyr209Ser) c.558A>C c.188A>C (p.Tyr63Ser) n.478A>C c.506A>C (p.Tyr169Ser) | |
11 | g.68036586A>G | CA381570519 | NDUFS8 | c.626A>G (p.Tyr209Cys) c.558A>G c.188A>G (p.Tyr63Cys) n.478A>G c.506A>G (p.Tyr169Cys) | |
11 | g.68036586A>T | CA381570490 | NDUFS8 | c.626A>T (p.Tyr209Phe) c.558A>T c.188A>T (p.Tyr63Phe) n.478A>T c.506A>T (p.Tyr169Phe) | |
11 | g.68036587T>A | CA381570521 | NDUFS8 | c.627T>A (p.Tyr209Ter) c.559T>A c.189T>A (p.Tyr63Ter) n.479T>A c.507T>A (p.Tyr169Ter) | |
11 | g.68036587T>C | CA475443171 | NDUFS8 | c.627T>C (p.Tyr209=) c.559T>C c.189T>C (p.Tyr63=) n.479T>C c.507T>C (p.Tyr169=) | |
11 | g.68036587T>G | CA381570522 | NDUFS8 | c.627T>G (p.Tyr209Ter) c.559T>G c.189T>G (p.Tyr63Ter) n.479T>G c.507T>G (p.Tyr169Ter) | |
11 | g.68036588C>A | CA475443177 | NDUFS8 | c.628C>A (p.Arg210=) c.560C>A c.190C>A (p.Arg64=) n.480C>A c.508C>A (p.Arg170=) | gnomAD v4 |
11 | g.68036588C= | CA1980452544 | NDUFS8 | c.628C= (p.Arg210=) c.560C= c.190C= (p.Arg64=) n.480C= c.508C= (p.Arg170=) | |
11 | g.68036588C>G | CA381570523 | NDUFS8 | c.628C>G (p.Arg210Gly) c.560C>G c.190C>G (p.Arg64Gly) n.480C>G c.508C>G (p.Arg170Gly) | |
11 | g.68036588C>T | CA224195292 | NDUFS8 | c.628C>T (p.Arg210Trp) c.560C>T c.190C>T (p.Arg64Trp) n.480C>T c.508C>T (p.Arg170Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036589G>A | CA224195296 | NDUFS8 | c.629G>A (p.Arg210Gln) c.561G>A c.191G>A (p.Arg64Gln) n.481G>A c.509G>A (p.Arg170Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036589G>C | CA381570530 | NDUFS8 | c.629G>C (p.Arg210Pro) c.561G>C c.191G>C (p.Arg64Pro) n.481G>C c.509G>C (p.Arg170Pro) | |
11 | g.68036589G= | CA1980452547 | NDUFS8 | c.629G= (p.Arg210=) c.561G= c.191G= (p.Arg64=) n.481G= c.509G= (p.Arg170=) | |
11 | g.68036589G>T | CA381570544 | NDUFS8 | c.629G>T (p.Arg210Leu) c.561G>T c.191G>T (p.Arg64Leu) n.481G>T c.509G>T (p.Arg170Leu) | dbSNP |
11 | g.68036590G>A | CA475443186 | NDUFS8 | c.630G>A (p.Arg210=) c.562G>A c.192G>A (p.Arg64=) n.482G>A c.510G>A (p.Arg170=) | |
11 | g.68036590G>C | CA475443188 | NDUFS8 | c.630G>C (p.Arg210=) c.562G>C c.192G>C (p.Arg64=) n.482G>C c.510G>C (p.Arg170=) | |
11 | g.68036590G>T | CA475443190 | NDUFS8 | c.630G>T (p.Arg210=) c.562G>T c.192G>T (p.Arg64=) n.482G>T c.510G>T (p.Arg170=) | |
11 | g.68036591T>A | CA381570552 | NDUFS8 | c.631T>A (p.Ter211Arg) c.563T>A c.193T>A (p.Ter65Arg) n.483T>A c.511T>A (p.Ter171Arg) | |
11 | g.68036591T>C | CA381570553 | NDUFS8 | c.631T>C (p.Ter211Arg) c.563T>C c.193T>C (p.Ter65Arg) n.483T>C c.511T>C (p.Ter171Arg) | dbSNP |
11 | g.68036591T>G | CA381570557 | NDUFS8 | c.631T>G (p.Ter211Gly) c.563T>G c.193T>G (p.Ter65Gly) n.483T>G c.511T>G (p.Ter171Gly) | |
11 | g.68036591T= | CA1980452552 | NDUFS8 | c.631T= (p.Ter211=) c.563T= c.193T= (p.Ter65=) n.483T= c.511T= (p.Ter171=) | |
11 | g.68036592G>A | CA475443196 | NDUFS8 | c.632G>A (p.Ter211=) c.564G>A c.194G>A (p.Ter65=) n.484G>A c.512G>A (p.Ter171=) | COSMIC |
11 | g.68036592G>C | CA381570561 | NDUFS8 | c.632G>C (p.Ter211Ser) c.564G>C c.194G>C (p.Ter65Ser) n.484G>C c.512G>C (p.Ter171Ser) | |
11 | g.68036592G>T | CA381570563 | NDUFS8 | c.632G>T (p.Ter211Leu) c.564G>T c.194G>T (p.Ter65Leu) n.484G>T c.512G>T (p.Ter171Leu) | gnomAD v4 |
11 | g.68036593A>C | CA381570574 | NDUFS8 | c.633A>C (p.Ter211Cys) c.565A>C c.195A>C (p.Ter65Cys) n.485A>C c.513A>C (p.Ter171Cys) | |
11 | g.68036593A>G | CA381570577 | NDUFS8 | c.633A>G (p.Ter211Trp) c.565A>G c.195A>G (p.Ter65Trp) n.485A>G c.513A>G (p.Ter171Trp) | |
11 | g.68036593A>T | CA381570569 | NDUFS8 | c.633A>T (p.Ter211Cys) c.565A>T c.195A>T (p.Ter65Cys) n.485A>T c.513A>T (p.Ter171Cys) | |
11 | g.68036594C= | CA1980452555 | NDUFS8 | c.*1C= (n.*1C=) c.566C= n.486C= | |
11 | g.68036594C>T | CA6146583 | NDUFS8 | c.*1C>T (n.*1C>T) c.566C>T n.486C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036595G>A | CA6146584 | NDUFS8 | c.*2G>A (n.*2G>A) c.567G>A n.487G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036595G= | CA1980452559 | NDUFS8 | c.*2G= (n.*2G=) c.567G= n.487G= | |
11 | g.68036596C= | CA1980452565 | NDUFS8 | c.*3C= (n.*3C=) c.568C= n.488C= | |
11 | g.68036596C>T | CA600238528 | NDUFS8 | c.*3C>T (n.*3C>T) c.568C>T n.488C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036599dup | CA224195302 | NDUFS8 | c.*6dup (n.*6dup) c.571dup n.491dup | dbSNP |
11 | g.68036598C= | CA1980452568 | NDUFS8 | c.*5C= (n.*5C=) c.570C= n.490C= | |
11 | g.68036598C>G | CA679544858 | NDUFS8 | c.*5C>G (n.*5C>G) c.570C>G n.490C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68036599C>T | CA2614693182 | NDUFS8 | c.*6C>T (n.*6C>T) c.571C>T n.491C>T | gnomAD v4 |
11 | g.68036599_68036600insCCT | CA2574899201 | NDUFS8 | c.*6_*7insCCT (n.*6_*7insCCT) c.571_572insCCT n.491_492insCCT | |
11 | g.68036601C>A | CA2614693184 | NDUFS8 | c.*8C>A (n.*8C>A) c.573C>A n.493C>A | gnomAD v4 |
11 | g.68036601C= | CA1980452570 | NDUFS8 | c.*8C= (n.*8C=) c.573C= n.493C= | |
11 | g.68036601C>T | CA939090940 | NDUFS8 | c.*8C>T (n.*8C>T) c.573C>T n.493C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68036602C>A | CA2838357012 | NDUFS8 | c.*9C>A (n.*9C>A) c.574C>A n.494C>A | |
11 | g.68036602C= | CA1980452572 | NDUFS8 | c.*9C= (n.*9C=) c.574C= n.494C= | |
11 | g.68036602C>T | CA6146585 | NDUFS8 | c.*9C>T (n.*9C>T) c.574C>T n.494C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036603G>A | CA6146586 | NDUFS8 | c.*10G>A (n.*10G>A) c.575G>A n.495G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036603G= | CA1980452575 | NDUFS8 | c.*10G= (n.*10G=) c.575G= n.495G= | |
11 | g.68036603G>T | CA501207 | NDUFS8 | c.*10G>T (n.*10G>T) c.575G>T n.495G>T | |
11 | g.68036604G>A | CA6146587 | NDUFS8 | c.*11G>A (n.*11G>A) c.576G>A n.496G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036604G>C | CA1980452577 | NDUFS8 | c.*11G>C (n.*11G>C) c.576G>C n.496G>C | dbSNP |
11 | g.68036604G= | CA1980452579 | NDUFS8 | c.*11G= (n.*11G=) c.576G= n.496G= | |
11 | g.68036604G>T | CA916084357 | NDUFS8 | c.*11G>T (n.*11G>T) c.576G>T n.496G>T | |
11 | g.68036605C>T | CA2792527957 | NDUFS8 | c.*12C>T (n.*12C>T) c.577C>T n.497C>T | |
11 | g.68036606C= | CA1980452582 | NDUFS8 | c.*13C= (n.*13C=) c.578C= n.498C= | |
11 | g.68036606C>G | CA679544864 | NDUFS8 | c.*13C>G (n.*13C>G) c.578C>G n.498C>G | dbSNP |
11 | g.68036606C>T | CA224195306 | NDUFS8 | c.*13C>T (n.*13C>T) c.578C>T n.498C>T | gnomAD v4 |
11 | g.68036607C>A | CA2581027478 | NDUFS8 | c.*14C>A (n.*14C>A) c.579C>A n.499C>A | |
11 | g.68036607C= | CA1980452586 | NDUFS8 | c.*14C= (n.*14C=) c.579C= n.499C= | |
11 | g.68036607C>G | CA224195310 | NDUFS8 | c.*14C>G (n.*14C>G) c.579C>G n.499C>G | dbSNP |
11 | g.68036607C>T | CA6146588 | NDUFS8 | c.*14C>T (n.*14C>T) c.579C>T n.499C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036608G>A | CA6146589 | NDUFS8 | c.*15G>A (n.*15G>A) c.580G>A n.500G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036608G= | CA1980452594 | NDUFS8 | c.*15G= (n.*15G=) c.580G= n.500G= | |
11 | g.68036609C= | CA1980452597 | NDUFS8 | c.*16C= (n.*16C=) c.581C= n.501C= | |
11 | g.68036609C>T | CA600238529 | NDUFS8 | c.*16C>T (n.*16C>T) c.581C>T n.501C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036611G>A | CA2614693214 | NDUFS8 | c.*18G>A (n.*18G>A) c.583G>A n.503G>A | gnomAD v4 |
11 | g.68036612C>A | CA2574899202 | NDUFS8 | c.*19C>A (n.*19C>A) c.584C>A n.504C>A | |
11 | g.68036612C= | CA1980452598 | NDUFS8 | c.*19C= (n.*19C=) c.584C= n.504C= | |
11 | g.68036612C>T | CA6146590 | NDUFS8 | c.*19C>T (n.*19C>T) c.584C>T n.504C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036614C>T | CA2614693225 | NDUFS8 | c.*21C>T (n.*21C>T) c.586C>T n.506C>T | gnomAD v4 |
11 | g.68036615C= | CA1980452599 | NDUFS8 | c.*22C= (n.*22C=) c.587C= n.507C= | |
11 | g.68036615C>T | CA224195318 | NDUFS8 | c.*22C>T (n.*22C>T) c.587C>T n.507C>T | dbSNP gnomAD v4 |