Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68036556_68036559delinsTCGCCA1980452469NDUFS8c.596_599delinsTCGC (p.Ile199=)
c.528_531delinsTCGC
c.158_161delinsTCGC (p.Ile53=)
n.448_451delinsTCGC
c.476_479delinsTCGC (p.Ile159=)
11g.68036561_68036563delCA6146574NDUFS8c.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
11g.68036558G>ACA6146577NDUFS8c.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
11g.68036558G>CCA381570310NDUFS8c.598G>C (p.Ala200Pro)
c.530G>C
c.160G>C (p.Ala54Pro)
n.450G>C
c.478G>C (p.Ala160Pro)
11g.68036558G=CA1980452480NDUFS8c.598G= (p.Ala200=)
c.530G=
c.160G= (p.Ala54=)
n.450G=
c.478G= (p.Ala160=)
11g.68036558G>TCA381570316NDUFS8c.598G>T (p.Ala200Ser)
c.530G>T
c.160G>T (p.Ala54Ser)
n.450G>T
c.478G>T (p.Ala160Ser)
11g.68036559C>ACA381570323NDUFS8c.599C>A (p.Ala200Asp)
c.531C>A
c.161C>A (p.Ala54Asp)
n.451C>A
c.479C>A (p.Ala160Asp)
11g.68036559C>GCA381570326NDUFS8c.599C>G (p.Ala200Gly)
c.531C>G
c.161C>G (p.Ala54Gly)
n.451C>G
c.479C>G (p.Ala160Gly)
11g.68036559C>TCA381570328NDUFS8c.599C>T (p.Ala200Val)
c.531C>T
c.161C>T (p.Ala54Val)
n.451C>T
c.479C>T (p.Ala160Val)
11g.68036560_68036566delCA2573320506NDUFS8c.600_606del (p.Ala201SerfsTer?)
c.532_538del
c.162_168del (p.Ala55SerfsTer?)
n.452_458del
c.480_486del (p.Ala161SerfsTer?)
11g.68036560C>ACA475443036NDUFS8c.600C>A (p.Ala200=)
c.532C>A
c.162C>A (p.Ala54=)
n.452C>A
c.480C>A (p.Ala160=)
 dbSNP gnomAD v4
11g.68036560C=CA1980452484NDUFS8c.600C= (p.Ala200=)
c.532C=
c.162C= (p.Ala54=)
n.452C=
c.480C= (p.Ala160=)
11g.68036560C>GCA475443037NDUFS8c.600C>G (p.Ala200=)
c.532C>G
c.162C>G (p.Ala54=)
n.452C>G
c.480C>G (p.Ala160=)
 gnomAD v4
11g.68036560C>TCA6146578NDUFS8c.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
11g.68036561G>ACA6146579NDUFS8c.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
11g.68036561G>CCA381570334NDUFS8c.601G>C (p.Ala201Pro)
c.533G>C
c.163G>C (p.Ala55Pro)
n.453G>C
c.481G>C (p.Ala161Pro)
11g.68036561G=CA1980452489NDUFS8c.601G= (p.Ala201=)
c.533G=
c.163G= (p.Ala55=)
n.453G=
c.481G= (p.Ala161=)
11g.68036561G>TCA224195245NDUFS8c.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
11g.68036562C>ACA381570338NDUFS8c.602C>A (p.Ala201Asp)
c.534C>A
c.164C>A (p.Ala55Asp)
n.454C>A
c.482C>A (p.Ala161Asp)
11g.68036562C>GCA381570340NDUFS8c.602C>G (p.Ala201Gly)
c.534C>G
c.164C>G (p.Ala55Gly)
n.454C>G
c.482C>G (p.Ala161Gly)
11g.68036562C>TCA381570342NDUFS8c.602C>T (p.Ala201Val)
c.534C>T
c.164C>T (p.Ala55Val)
n.454C>T
c.482C>T (p.Ala161Val)
 gnomAD v4
11g.68036563C>ACA475443052NDUFS8c.603C>A (p.Ala201=)
c.535C>A
c.165C>A (p.Ala55=)
n.455C>A
c.483C>A (p.Ala161=)
11g.68036563C=CA1980452493NDUFS8c.603C= (p.Ala201=)
c.535C=
c.165C= (p.Ala55=)
n.455C=
c.483C= (p.Ala161=)
11g.68036563C>GCA475443054NDUFS8c.603C>G (p.Ala201=)
c.535C>G
c.165C>G (p.Ala55=)
n.455C>G
c.483C>G (p.Ala161=)
 dbSNP
11g.68036563C>TCA475443056NDUFS8c.603C>T (p.Ala201=)
c.535C>T
c.165C>T (p.Ala55=)
n.455C>T
c.483C>T (p.Ala161=)
11g.68036564A>CCA381570346NDUFS8c.604A>C (p.Asn202His)
c.536A>C
c.166A>C (p.Asn56His)
n.456A>C
c.484A>C (p.Asn162His)
11g.68036564A>GCA381570347NDUFS8c.604A>G (p.Asn202Asp)
c.536A>G
c.166A>G (p.Asn56Asp)
n.456A>G
c.484A>G (p.Asn162Asp)
 COSMIC
11g.68036564A>TCA381570349NDUFS8c.604A>T (p.Asn202Tyr)
c.536A>T
c.166A>T (p.Asn56Tyr)
n.456A>T
c.484A>T (p.Asn162Tyr)
11g.68036565delCA2574899200NDUFS8c.605del (p.Asn202ThrfsTer?)
c.537del
c.167del (p.Asn56ThrfsTer?)
n.457del
c.485del (p.Asn162ThrfsTer?)
 ClinVar gnomAD v4
11g.68036565A=CA1980452495NDUFS8c.605A= (p.Asn202=)
c.537A=
c.167A= (p.Asn56=)
n.457A=
c.485A= (p.Asn162=)
11g.68036565A>CCA381570353NDUFS8c.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
11g.68036565A>GCA381570357NDUFS8c.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
11g.68036565A>TCA381570360NDUFS8c.605A>T (p.Asn202Ile)
c.537A>T
c.167A>T (p.Asn56Ile)
n.457A>T
c.485A>T (p.Asn162Ile)
11g.68036566C>ACA381570363NDUFS8c.606C>A (p.Asn202Lys)
c.538C>A
c.168C>A (p.Asn56Lys)
n.458C>A
c.486C>A (p.Asn162Lys)
 gnomAD v4
11g.68036566C>GCA381570364NDUFS8c.606C>G (p.Asn202Lys)
c.538C>G
c.168C>G (p.Asn56Lys)
n.458C>G
c.486C>G (p.Asn162Lys)
11g.68036566C>TCA475443069NDUFS8c.606C>T (p.Asn202=)
c.538C>T
c.168C>T (p.Asn56=)
n.458C>T
c.486C>T (p.Asn162=)
11g.68036567A>CCA381570379NDUFS8c.607A>C (p.Ile203Leu)
c.539A>C
c.169A>C (p.Ile57Leu)
n.459A>C
c.487A>C (p.Ile163Leu)
11g.68036567A>GCA381570375NDUFS8c.607A>G (p.Ile203Val)
c.539A>G
c.169A>G (p.Ile57Val)
n.459A>G
c.487A>G (p.Ile163Val)
11g.68036567A>TCA381570369NDUFS8c.607A>T (p.Ile203Phe)
c.539A>T
c.169A>T (p.Ile57Phe)
n.459A>T
c.487A>T (p.Ile163Phe)
11g.68036568T>ACA381570382NDUFS8c.608T>A (p.Ile203Asn)
c.540T>A
c.170T>A (p.Ile57Asn)
n.460T>A
c.488T>A (p.Ile163Asn)
11g.68036568T>CCA381570385NDUFS8c.608T>C (p.Ile203Thr)
c.540T>C
c.170T>C (p.Ile57Thr)
n.460T>C
c.488T>C (p.Ile163Thr)
11g.68036568T>GCA381570387NDUFS8c.608T>G (p.Ile203Ser)
c.540T>G
c.170T>G (p.Ile57Ser)
n.460T>G
c.488T>G (p.Ile163Ser)
11g.68036569C>ACA475443082NDUFS8c.609C>A (p.Ile203=)
c.541C>A
c.171C>A (p.Ile57=)
n.461C>A
c.489C>A (p.Ile163=)
11g.68036569C=CA1980452498NDUFS8c.609C= (p.Ile203=)
c.541C=
c.171C= (p.Ile57=)
n.461C=
c.489C= (p.Ile163=)
11g.68036569C>GCA381570390NDUFS8c.609C>G (p.Ile203Met)
c.541C>G
c.171C>G (p.Ile57Met)
n.461C>G
c.489C>G (p.Ile163Met)
 dbSNP
11g.68036569C>TCA475443085NDUFS8c.609C>T (p.Ile203=)
c.541C>T
c.171C>T (p.Ile57=)
n.461C>T
c.489C>T (p.Ile163=)
11g.68036570C>ACA381570391NDUFS8c.610C>A (p.Gln204Lys)
c.542C>A
c.172C>A (p.Gln58Lys)
n.462C>A
c.490C>A (p.Gln164Lys)
11g.68036570C=CA1980452502NDUFS8c.610C= (p.Gln204=)
c.542C=
c.172C= (p.Gln58=)
n.462C=
c.490C= (p.Gln164=)
11g.68036570C>GCA381570392NDUFS8c.610C>G (p.Gln204Glu)
c.542C>G
c.172C>G (p.Gln58Glu)
n.462C>G
c.490C>G (p.Gln164Glu)
11g.68036570C>TCA6146580NDUFS8c.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
11g.68036571A=CA1980452509NDUFS8c.611A= (p.Gln204=)
c.543A=
c.173A= (p.Gln58=)
n.463A=
c.491A= (p.Gln164=)
11g.68036571A>CCA381570394NDUFS8c.611A>C (p.Gln204Pro)
c.543A>C
c.173A>C (p.Gln58Pro)
n.463A>C
c.491A>C (p.Gln164Pro)
11g.68036571A>GCA381570396NDUFS8c.611A>G (p.Gln204Arg)
c.543A>G
c.173A>G (p.Gln58Arg)
n.463A>G
c.491A>G (p.Gln164Arg)
 gnomAD v4
11g.68036571A>TCA322342NDUFS8c.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
11g.68036572G>ACA475443101NDUFS8c.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
11g.68036572G>CCA381570405NDUFS8c.612G>C (p.Gln204His)
c.544G>C
c.174G>C (p.Gln58His)
n.464G>C
c.492G>C (p.Gln164His)
11g.68036572G=CA1980452512NDUFS8c.612G= (p.Gln204=)
c.544G=
c.174G= (p.Gln58=)
n.464G=
c.492G= (p.Gln164=)
11g.68036572G>TCA381570408NDUFS8c.612G>T (p.Gln204His)
c.544G>T
c.174G>T (p.Gln58His)
n.464G>T
c.492G>T (p.Gln164His)
11g.68036573G>ACA381570413NDUFS8c.613G>A (p.Ala205Thr)
c.545G>A
c.175G>A (p.Ala59Thr)
n.465G>A
c.493G>A (p.Ala165Thr)
11g.68036573G>CCA381570412NDUFS8c.613G>C (p.Ala205Pro)
c.545G>C
c.175G>C (p.Ala59Pro)
n.465G>C
c.493G>C (p.Ala165Pro)
11g.68036573G=CA1980452514NDUFS8c.613G= (p.Ala205=)
c.545G=
c.175G= (p.Ala59=)
n.465G=
c.493G= (p.Ala165=)
11g.68036573G>TCA381570410NDUFS8c.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
11g.68036573_68036577delinsGCTGACA1980452516NDUFS8c.613_617delinsGCTGA (p.Ala205=)
c.545_549delinsGCTGA
c.175_179delinsGCTGA (p.Ala59=)
n.465_469delinsGCTGA
c.493_497delinsGCTGA (p.Ala165=)
11g.68036574C>ACA381570416NDUFS8c.614C>A (p.Ala205Asp)
c.546C>A
c.176C>A (p.Ala59Asp)
n.466C>A
c.494C>A (p.Ala165Asp)
11g.68036574C>GCA381570419NDUFS8c.614C>G (p.Ala205Gly)
c.546C>G
c.176C>G (p.Ala59Gly)
n.466C>G
c.494C>G (p.Ala165Gly)
 gnomAD v4
11g.68036574C>TCA381570418NDUFS8c.614C>T (p.Ala205Val)
c.546C>T
c.176C>T (p.Ala59Val)
n.466C>T
c.494C>T (p.Ala165Val)
11g.68036576_68036579delCA1980452519NDUFS8c.616_619del (p.Asp206ThrfsTer?)
c.548_551del
c.178_181del (p.Asp60ThrfsTer?)
n.468_471del
c.496_499del (p.Asp166ThrfsTer?)
 dbSNP gnomAD v4
11g.68036575T>ACA475443112NDUFS8c.615T>A (p.Ala205=)
c.547T>A
c.177T>A (p.Ala59=)
n.467T>A
c.495T>A (p.Ala165=)
11g.68036575T>CCA475443114NDUFS8c.615T>C (p.Ala205=)
c.547T>C
c.177T>C (p.Ala59=)
n.467T>C
c.495T>C (p.Ala165=)
 gnomAD v4
11g.68036575T>GCA475443116NDUFS8c.615T>G (p.Ala205=)
c.547T>G
c.177T>G (p.Ala59=)
n.467T>G
c.495T>G (p.Ala165=)
11g.68036576G>ACA381570420NDUFS8c.616G>A (p.Asp206Asn)
c.548G>A
c.178G>A (p.Asp60Asn)
n.468G>A
c.496G>A (p.Asp166Asn)
 gnomAD v4
11g.68036576G>CCA381570423NDUFS8c.616G>C (p.Asp206His)
c.548G>C
c.178G>C (p.Asp60His)
n.468G>C
c.496G>C (p.Asp166His)
11g.68036576G>TCA381570421NDUFS8c.616G>T (p.Asp206Tyr)
c.548G>T
c.178G>T (p.Asp60Tyr)
n.468G>T
c.496G>T (p.Asp166Tyr)
11g.68036577A=CA1980452521NDUFS8c.617A= (p.Asp206=)
c.549A=
c.179A= (p.Asp60=)
n.469A=
c.497A= (p.Asp166=)
11g.68036577A>CCA381570426NDUFS8c.617A>C (p.Asp206Ala)
c.549A>C
c.179A>C (p.Asp60Ala)
n.469A>C
c.497A>C (p.Asp166Ala)
11g.68036577A>GCA381570428NDUFS8c.617A>G (p.Asp206Gly)
c.549A>G
c.179A>G (p.Asp60Gly)
n.469A>G
c.497A>G (p.Asp166Gly)
11g.68036577A>TCA381570431NDUFS8c.617A>T (p.Asp206Val)
c.549A>T
c.179A>T (p.Asp60Val)
n.469A>T
c.497A>T (p.Asp166Val)
 dbSNP
11g.68036578C>ACA381570435NDUFS8c.618C>A (p.Asp206Glu)
c.550C>A
c.180C>A (p.Asp60Glu)
n.470C>A
c.498C>A (p.Asp166Glu)
11g.68036578C>GCA381570436NDUFS8c.618C>G (p.Asp206Glu)
c.550C>G
c.180C>G (p.Asp60Glu)
n.470C>G
c.498C>G (p.Asp166Glu)
11g.68036578C>TCA475443129NDUFS8c.618C>T (p.Asp206=)
c.550C>T
c.180C>T (p.Asp60=)
n.470C>T
c.498C>T (p.Asp166=)
11g.68036579T>ACA381570437NDUFS8c.619T>A (p.Tyr207Asn)
c.551T>A
c.181T>A (p.Tyr61Asn)
n.471T>A
c.499T>A (p.Tyr167Asn)
11g.68036579T>CCA381570438NDUFS8c.619T>C (p.Tyr207His)
c.551T>C
c.181T>C (p.Tyr61His)
n.471T>C
c.499T>C (p.Tyr167His)
 dbSNP
11g.68036579T>GCA381570439NDUFS8c.619T>G (p.Tyr207Asp)
c.551T>G
c.181T>G (p.Tyr61Asp)
n.471T>G
c.499T>G (p.Tyr167Asp)
11g.68036579T=CA1980452524NDUFS8c.619T= (p.Tyr207=)
c.551T=
c.181T= (p.Tyr61=)
n.471T=
c.499T= (p.Tyr167=)
11g.68036580A>CCA381570442NDUFS8c.620A>C (p.Tyr207Ser)
c.552A>C
c.182A>C (p.Tyr61Ser)
n.472A>C
c.500A>C (p.Tyr167Ser)
 gnomAD v4
11g.68036580A>GCA381570446NDUFS8c.620A>G (p.Tyr207Cys)
c.552A>G
c.182A>G (p.Tyr61Cys)
n.472A>G
c.500A>G (p.Tyr167Cys)
11g.68036580A>TCA381570455NDUFS8c.620A>T (p.Tyr207Phe)
c.552A>T
c.182A>T (p.Tyr61Phe)
n.472A>T
c.500A>T (p.Tyr167Phe)
 gnomAD v4
11g.68036580_68036583delinsACTTCA1980452528NDUFS8c.620_623delinsACTT (p.Tyr207=)
c.552_555delinsACTT
c.182_185delinsACTT (p.Tyr61=)
n.472_475delinsACTT
c.500_503delinsACTT (p.Tyr167=)
11g.68036581C>ACA381570457NDUFS8c.621C>A (p.Tyr207Ter)
c.553C>A
c.183C>A (p.Tyr61Ter)
n.473C>A
c.501C>A (p.Tyr167Ter)
11g.68036581C=CA1980452532NDUFS8c.621C= (p.Tyr207=)
c.553C=
c.183C= (p.Tyr61=)
n.473C=
c.501C= (p.Tyr167=)
11g.68036581C>GCA6146581NDUFS8c.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
11g.68036581C>TCA475443144NDUFS8c.621C>T (p.Tyr207=)
c.553C>T
c.183C>T (p.Tyr61=)
n.473C>T
c.501C>T (p.Tyr167=)
11g.68036581_68036583delCA1980452530NDUFS8c.621_623del (p.Tyr207Ter)
c.553_555del
c.183_185del (p.Tyr61Ter)
n.473_475del
c.501_503del (p.Tyr167Ter)
 dbSNP gnomAD v4
11g.68036582T>ACA381570460NDUFS8c.622T>A (p.Leu208Met)
c.554T>A
c.184T>A (p.Leu62Met)
n.474T>A
c.502T>A (p.Leu168Met)
11g.68036582T>CCA475443147NDUFS8c.622T>C (p.Leu208=)
c.554T>C
c.184T>C (p.Leu62=)
n.474T>C
c.502T>C (p.Leu168=)
 dbSNP
11g.68036582T>GCA381570461NDUFS8c.622T>G (p.Leu208Val)
c.554T>G
c.184T>G (p.Leu62Val)
n.474T>G
c.502T>G (p.Leu168Val)
11g.68036582T=CA1980452536NDUFS8c.622T= (p.Leu208=)
c.554T=
c.184T= (p.Leu62=)
n.474T=
c.502T= (p.Leu168=)
11g.68036583T>ACA381570462NDUFS8c.623T>A (p.Leu208Ter)
c.555T>A
c.185T>A (p.Leu62Ter)
n.475T>A
c.503T>A (p.Leu168Ter)
 dbSNP
11g.68036583T>CCA381570463NDUFS8c.623T>C (p.Leu208Ser)
c.555T>C
c.185T>C (p.Leu62Ser)
n.475T>C
c.503T>C (p.Leu168Ser)
11g.68036583T>GCA381570464NDUFS8c.623T>G (p.Leu208Trp)
c.555T>G
c.185T>G (p.Leu62Trp)
n.475T>G
c.503T>G (p.Leu168Trp)
11g.68036583T=CA1980452538NDUFS8c.623T= (p.Leu208=)
c.555T=
c.185T= (p.Leu62=)
n.475T=
c.503T= (p.Leu168=)
11g.68036584G>ACA6146582NDUFS8c.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
11g.68036584G>CCA381570468NDUFS8c.624G>C (p.Leu208Phe)
c.556G>C
c.186G>C (p.Leu62Phe)
n.476G>C
c.504G>C (p.Leu168Phe)
11g.68036584G=CA1980452542NDUFS8c.624G= (p.Leu208=)
c.556G=
c.186G= (p.Leu62=)
n.476G=
c.504G= (p.Leu168=)
11g.68036584G>TCA381570474NDUFS8c.624G>T (p.Leu208Phe)
c.556G>T
c.186G>T (p.Leu62Phe)
n.476G>T
c.504G>T (p.Leu168Phe)
11g.68036585T>ACA381570480NDUFS8c.625T>A (p.Tyr209Asn)
c.557T>A
c.187T>A (p.Tyr63Asn)
n.477T>A
c.505T>A (p.Tyr169Asn)
11g.68036585T>CCA381570482NDUFS8c.625T>C (p.Tyr209His)
c.557T>C
c.187T>C (p.Tyr63His)
n.477T>C
c.505T>C (p.Tyr169His)
11g.68036585T>GCA381570486NDUFS8c.625T>G (p.Tyr209Asp)
c.557T>G
c.187T>G (p.Tyr63Asp)
n.477T>G
c.505T>G (p.Tyr169Asp)
11g.68036586A>CCA381570517NDUFS8c.626A>C (p.Tyr209Ser)
c.558A>C
c.188A>C (p.Tyr63Ser)
n.478A>C
c.506A>C (p.Tyr169Ser)
11g.68036586A>GCA381570519NDUFS8c.626A>G (p.Tyr209Cys)
c.558A>G
c.188A>G (p.Tyr63Cys)
n.478A>G
c.506A>G (p.Tyr169Cys)
11g.68036586A>TCA381570490NDUFS8c.626A>T (p.Tyr209Phe)
c.558A>T
c.188A>T (p.Tyr63Phe)
n.478A>T
c.506A>T (p.Tyr169Phe)
11g.68036587T>ACA381570521NDUFS8c.627T>A (p.Tyr209Ter)
c.559T>A
c.189T>A (p.Tyr63Ter)
n.479T>A
c.507T>A (p.Tyr169Ter)
11g.68036587T>CCA475443171NDUFS8c.627T>C (p.Tyr209=)
c.559T>C
c.189T>C (p.Tyr63=)
n.479T>C
c.507T>C (p.Tyr169=)
11g.68036587T>GCA381570522NDUFS8c.627T>G (p.Tyr209Ter)
c.559T>G
c.189T>G (p.Tyr63Ter)
n.479T>G
c.507T>G (p.Tyr169Ter)
11g.68036588C>ACA475443177NDUFS8c.628C>A (p.Arg210=)
c.560C>A
c.190C>A (p.Arg64=)
n.480C>A
c.508C>A (p.Arg170=)
 gnomAD v4
11g.68036588C=CA1980452544NDUFS8c.628C= (p.Arg210=)
c.560C=
c.190C= (p.Arg64=)
n.480C=
c.508C= (p.Arg170=)
11g.68036588C>GCA381570523NDUFS8c.628C>G (p.Arg210Gly)
c.560C>G
c.190C>G (p.Arg64Gly)
n.480C>G
c.508C>G (p.Arg170Gly)
11g.68036588C>TCA224195292NDUFS8c.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
11g.68036589G>ACA224195296NDUFS8c.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
11g.68036589G>CCA381570530NDUFS8c.629G>C (p.Arg210Pro)
c.561G>C
c.191G>C (p.Arg64Pro)
n.481G>C
c.509G>C (p.Arg170Pro)
11g.68036589G=CA1980452547NDUFS8c.629G= (p.Arg210=)
c.561G=
c.191G= (p.Arg64=)
n.481G=
c.509G= (p.Arg170=)
11g.68036589G>TCA381570544NDUFS8c.629G>T (p.Arg210Leu)
c.561G>T
c.191G>T (p.Arg64Leu)
n.481G>T
c.509G>T (p.Arg170Leu)
 dbSNP
11g.68036590G>ACA475443186NDUFS8c.630G>A (p.Arg210=)
c.562G>A
c.192G>A (p.Arg64=)
n.482G>A
c.510G>A (p.Arg170=)
11g.68036590G>CCA475443188NDUFS8c.630G>C (p.Arg210=)
c.562G>C
c.192G>C (p.Arg64=)
n.482G>C
c.510G>C (p.Arg170=)
11g.68036590G>TCA475443190NDUFS8c.630G>T (p.Arg210=)
c.562G>T
c.192G>T (p.Arg64=)
n.482G>T
c.510G>T (p.Arg170=)
11g.68036591T>ACA381570552NDUFS8c.631T>A (p.Ter211Arg)
c.563T>A
c.193T>A (p.Ter65Arg)
n.483T>A
c.511T>A (p.Ter171Arg)
11g.68036591T>CCA381570553NDUFS8c.631T>C (p.Ter211Arg)
c.563T>C
c.193T>C (p.Ter65Arg)
n.483T>C
c.511T>C (p.Ter171Arg)
 dbSNP
11g.68036591T>GCA381570557NDUFS8c.631T>G (p.Ter211Gly)
c.563T>G
c.193T>G (p.Ter65Gly)
n.483T>G
c.511T>G (p.Ter171Gly)
11g.68036591T=CA1980452552NDUFS8c.631T= (p.Ter211=)
c.563T=
c.193T= (p.Ter65=)
n.483T=
c.511T= (p.Ter171=)
11g.68036592G>ACA475443196NDUFS8c.632G>A (p.Ter211=)
c.564G>A
c.194G>A (p.Ter65=)
n.484G>A
c.512G>A (p.Ter171=)
 COSMIC
11g.68036592G>CCA381570561NDUFS8c.632G>C (p.Ter211Ser)
c.564G>C
c.194G>C (p.Ter65Ser)
n.484G>C
c.512G>C (p.Ter171Ser)
11g.68036592G>TCA381570563NDUFS8c.632G>T (p.Ter211Leu)
c.564G>T
c.194G>T (p.Ter65Leu)
n.484G>T
c.512G>T (p.Ter171Leu)
 gnomAD v4
11g.68036593A>CCA381570574NDUFS8c.633A>C (p.Ter211Cys)
c.565A>C
c.195A>C (p.Ter65Cys)
n.485A>C
c.513A>C (p.Ter171Cys)
11g.68036593A>GCA381570577NDUFS8c.633A>G (p.Ter211Trp)
c.565A>G
c.195A>G (p.Ter65Trp)
n.485A>G
c.513A>G (p.Ter171Trp)
11g.68036593A>TCA381570569NDUFS8c.633A>T (p.Ter211Cys)
c.565A>T
c.195A>T (p.Ter65Cys)
n.485A>T
c.513A>T (p.Ter171Cys)
11g.68036594C=CA1980452555NDUFS8c.*1C= (n.*1C=)
c.566C=
n.486C=
11g.68036594C>TCA6146583NDUFS8c.*1C>T (n.*1C>T)
c.566C>T
n.486C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036595G>ACA6146584NDUFS8c.*2G>A (n.*2G>A)
c.567G>A
n.487G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036595G=CA1980452559NDUFS8c.*2G= (n.*2G=)
c.567G=
n.487G=
11g.68036596C=CA1980452565NDUFS8c.*3C= (n.*3C=)
c.568C=
n.488C=
11g.68036596C>TCA600238528NDUFS8c.*3C>T (n.*3C>T)
c.568C>T
n.488C>T
 dbSNP gnomAD v2 gnomAD v4
11g.68036599dupCA224195302NDUFS8c.*6dup (n.*6dup)
c.571dup
n.491dup
 dbSNP
11g.68036598C=CA1980452568NDUFS8c.*5C= (n.*5C=)
c.570C=
n.490C=
11g.68036598C>GCA679544858NDUFS8c.*5C>G (n.*5C>G)
c.570C>G
n.490C>G
 dbSNP gnomAD v3 gnomAD v4
11g.68036599C>TCA2614693182NDUFS8c.*6C>T (n.*6C>T)
c.571C>T
n.491C>T
 gnomAD v4
11g.68036599_68036600insCCTCA2574899201NDUFS8c.*6_*7insCCT (n.*6_*7insCCT)
c.571_572insCCT
n.491_492insCCT
11g.68036601C>ACA2614693184NDUFS8c.*8C>A (n.*8C>A)
c.573C>A
n.493C>A
 gnomAD v4
11g.68036601C=CA1980452570NDUFS8c.*8C= (n.*8C=)
c.573C=
n.493C=
11g.68036601C>TCA939090940NDUFS8c.*8C>T (n.*8C>T)
c.573C>T
n.493C>T
 dbSNP gnomAD v3 gnomAD v4
11g.68036602C=CA1980452572NDUFS8c.*9C= (n.*9C=)
c.574C=
n.494C=
11g.68036602C>TCA6146585NDUFS8c.*9C>T (n.*9C>T)
c.574C>T
n.494C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036603G>ACA6146586NDUFS8c.*10G>A (n.*10G>A)
c.575G>A
n.495G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036603G=CA1980452575NDUFS8c.*10G= (n.*10G=)
c.575G=
n.495G=
11g.68036603G>TCA501207NDUFS8c.*10G>T (n.*10G>T)
c.575G>T
n.495G>T
11g.68036604G>ACA6146587NDUFS8c.*11G>A (n.*11G>A)
c.576G>A
n.496G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68036604G>CCA1980452577NDUFS8c.*11G>C (n.*11G>C)
c.576G>C
n.496G>C
 dbSNP
11g.68036604G=CA1980452579NDUFS8c.*11G= (n.*11G=)
c.576G=
n.496G=
11g.68036604G>TCA916084357NDUFS8c.*11G>T (n.*11G>T)
c.576G>T
n.496G>T
11g.68036605C>TCA2792527957NDUFS8c.*12C>T (n.*12C>T)
c.577C>T
n.497C>T
11g.68036606C=CA1980452582NDUFS8c.*13C= (n.*13C=)
c.578C=
n.498C=
11g.68036606C>GCA679544864NDUFS8c.*13C>G (n.*13C>G)
c.578C>G
n.498C>G
 dbSNP
11g.68036606C>TCA224195306NDUFS8c.*13C>T (n.*13C>T)
c.578C>T
n.498C>T
 gnomAD v4
11g.68036607C>ACA2581027478NDUFS8c.*14C>A (n.*14C>A)
c.579C>A
n.499C>A
11g.68036607C=CA1980452586NDUFS8c.*14C= (n.*14C=)
c.579C=
n.499C=
11g.68036607C>GCA224195310NDUFS8c.*14C>G (n.*14C>G)
c.579C>G
n.499C>G
 dbSNP
11g.68036607C>TCA6146588NDUFS8c.*14C>T (n.*14C>T)
c.579C>T
n.499C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036608G>ACA6146589NDUFS8c.*15G>A (n.*15G>A)
c.580G>A
n.500G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036608G=CA1980452594NDUFS8c.*15G= (n.*15G=)
c.580G=
n.500G=
11g.68036609C=CA1980452597NDUFS8c.*16C= (n.*16C=)
c.581C=
n.501C=
11g.68036609C>TCA600238529NDUFS8c.*16C>T (n.*16C>T)
c.581C>T
n.501C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68036611G>ACA2614693214NDUFS8c.*18G>A (n.*18G>A)
c.583G>A
n.503G>A
 gnomAD v4
11g.68036612C>ACA2574899202NDUFS8c.*19C>A (n.*19C>A)
c.584C>A
n.504C>A
11g.68036612C=CA1980452598NDUFS8c.*19C= (n.*19C=)
c.584C=
n.504C=
11g.68036612C>TCA6146590NDUFS8c.*19C>T (n.*19C>T)
c.584C>T
n.504C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036614C>TCA2614693225NDUFS8c.*21C>T (n.*21C>T)
c.586C>T
n.506C>T
 gnomAD v4
11g.68036615C=CA1980452599NDUFS8c.*22C= (n.*22C=)
c.587C=
n.507C=
11g.68036615C>TCA224195318NDUFS8c.*22C>T (n.*22C>T)
c.587C>T
n.507C>T
 dbSNP gnomAD v4
11g.68036617G>CCA939090952NDUFS8c.*24G>C (n.*24G>C)
c.589G>C
n.509G>C
 dbSNP gnomAD v3 gnomAD v4
11g.68036617G=CA1980452600NDUFS8c.*24G= (n.*24G=)
c.589G=
n.509G=
11g.68036618C>ACA1980452604NDUFS8c.*25C>A (n.*25C>A)
c.590C>A
n.510C>A
 dbSNP gnomAD v4
11g.68036618C=CA1980452602NDUFS8c.*25C= (n.*25C=)
c.590C=
n.510C=
11g.68036618C>GCA1980452605NDUFS8c.*25C>G (n.*25C>G)
c.590C>G
n.510C>G
 dbSNP
11g.68036619T>GCA10631394NDUFS8c.*26T>G (n.*26T>G)
c.591T>G
n.511T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68036619T=CA1980452606NDUFS8c.*26T= (n.*26T=)
c.591T=
n.511T=
11g.68036619dupCA600238530NDUFS8c.*26dup (n.*26dup)
c.591dup
n.511dup
 dbSNP gnomAD v2 gnomAD v4
11g.68036621C>GCA2614693246NDUFS8c.*28C>G (n.*28C>G)
c.593C>G
n.513C>G
 gnomAD v4
11g.68036622C>ACA6146591NDUFS8c.*29C>A (n.*29C>A)
c.594C>A
n.514C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68036622C=CA1980452609NDUFS8c.*29C= (n.*29C=)
c.594C=
n.514C=
11g.68036622C>TCA939090974NDUFS8c.*29C>T (n.*29C>T)
c.594C>T
n.514C>T
 dbSNP gnomAD v3 gnomAD v4
11g.68036623C>ACA2614693257NDUFS8c.*30C>A (n.*30C>A)
c.595C>A
n.515C>A
 gnomAD v4
11g.68036624A=CA1980452611NDUFS8c.*31A= (n.*31A=)
c.596A=
n.516A=
11g.68036624A>CCA600238531NDUFS8c.*31A>C (n.*31A>C)
c.596A>C
n.516A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68036624A>GCA2574899203NDUFS8c.*31A>G (n.*31A>G)
c.596A>G
n.516A>G
11g.68036625A=CA1980452612NDUFS8c.*32A= (n.*32A=)
c.597A=
n.517A=
11g.68036625A>GCA1980452613NDUFS8c.*32A>G (n.*32A>G)
c.597A>G
n.517A>G
 dbSNP gnomAD v4
11g.68036627A>GCA2614693263NDUFS8c.*34A>G (n.*34A>G)
c.599A>G
n.519A>G
 gnomAD v4
11g.68036629A>CCA2614693264NDUFS8c.*36A>C (n.*36A>C)
c.601A>C
n.521A>C
 gnomAD v4
11g.68036632C>ACA2574899204NDUFS8c.*39C>A (n.*39C>A)
c.604C>A
n.524C>A
11g.68036632C=CA1980452616NDUFS8c.*39C= (n.*39C=)
c.604C=
n.524C=
11g.68036632C>TCA6146592NDUFS8c.*39C>T (n.*39C>T)
c.604C>T
n.524C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036632_68036633insCAACCCAACA2792527958NDUFS8c.*39_*40insCAACCCAA (n.*39_*40insCAACCCAA)
c.604_605insCAACCCAA
n.524_525insCAACCCAA
11g.68036633A=CA1980452620NDUFS8c.*40A= (n.*40A=)
c.605A=
n.525A=
11g.68036633A>GCA6146593NDUFS8c.*40A>G (n.*40A>G)
c.605A>G
n.525A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036633A>TCA2614693280NDUFS8c.*40A>T (n.*40A>T)
c.605A>T
n.525A>T
 gnomAD v4
11g.68036634C=CA1980452622NDUFS8c.*41C= (n.*41C=)
c.606C=
n.526C=
11g.68036634C>TCA6146594NDUFS8c.*41C>T (n.*41C>T)
c.606C>T
n.526C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68036635T>ACA2792527959NDUFS8c.*42T>A (n.*42T>A)
c.607T>A
n.527T>A
11g.68036636C>ACA2614693300NDUFS8c.*43C>A (n.*43C>A)
c.608C>A
n.528C>A
 gnomAD v4
11g.68036636C=CA1980452623NDUFS8c.*43C= (n.*43C=)
c.608C=
n.528C=
11g.68036636C>GCA600238532NDUFS8c.*43C>G (n.*43C>G)
c.608C>G
n.528C>G
 dbSNP gnomAD v2 gnomAD v4
11g.68036636C>TCA679544900NDUFS8c.*43C>T (n.*43C>T)
c.608C>T
n.528C>T
 dbSNP gnomAD v4
11g.68036637C=CA1980452624NDUFS8c.*44C= (n.*44C=)
c.609C=
n.529C=
11g.68036637C>GCA2614693310NDUFS8c.*44C>G (n.*44C>G)
c.609C>G
n.529C>G
 gnomAD v4
11g.68036637C>TCA6146595NDUFS8c.*44C>T (n.*44C>T)
c.609C>T
n.529C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036637_68036638delCA2792527960NDUFS8c.*44_*45del (n.*44_*45del)
c.609_610del
n.529_530del
11g.68036638G>ACA6146597NDUFS8c.*45G>A (n.*45G>A)
c.610G>A
n.530G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036638G>CCA6146596NDUFS8c.*45G>C (n.*45G>C)
c.610G>C
n.530G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036638G=CA1980452626NDUFS8c.*45G= (n.*45G=)
c.610G=
n.530G=
11g.68036638G>TCA2614693329NDUFS8c.*45G>T (n.*45G>T)
c.610G>T
n.530G>T
 gnomAD v4
11g.68036639A=CA1980452627NDUFS8c.*46A= (n.*46A=)
c.611A=
n.531A=
11g.68036639A>CCA1980452628NDUFS8c.*46A>C (n.*46A>C)
c.611A>C
n.531A>C
 dbSNP
11g.68036639A>GCA6146598NDUFS8c.*46A>G (n.*46A>G)
c.611A>G
n.531A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036640C=CA1980452629NDUFS8c.*47C= (n.*47C=)
c.612C=
n.532C=
11g.68036640C>TCA6146599NDUFS8c.*47C>T (n.*47C>T)
c.612C>T
n.532C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68036641C=CA1980452630NDUFS8c.*48C= (n.*48C=)
c.613C=
n.533C=
11g.68036641C>GCA600238533NDUFS8c.*48C>G (n.*48C>G)
c.613C>G
n.533C>G
 dbSNP gnomAD v2
11g.68036642C>ACA2614693360NDUFS8c.*49C>A (n.*49C>A)
c.614C>A
n.534C>A
 gnomAD v4
11g.68036642_68036643insAACACA2792527961NDUFS8c.*49_*50insAACA (n.*49_*50insAACA)
c.614_615insAACA
n.534_535insAACA
11g.68036644A>GCA2792527962NDUFS8c.*51A>G (n.*51A>G)
c.616A>G
n.536A>G
11g.68036645C>ACA1980452632NDUFS8c.*52C>A (n.*52C>A)
 dbSNP
11g.68036645C=CA1980452631NDUFS8c.*52C= (n.*52C=)
11g.68036645C>TCA6146600NDUFS8c.*52C>T (n.*52C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68036645_68036646delinsCGCA1980452634NDUFS8c.*52_*53delinsCG (n.*52_*53delinsCG)
11g.68036646G>ACA224195384NDUFS8c.*53G>A (n.*53G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68036646G>CCA2574899205NDUFS8c.*53G>C (n.*53G>C)
 gnomAD v4
11g.68036646G=CA1980452636NDUFS8c.*53G= (n.*53G=)
11g.68036646G>TCA2614693379NDUFS8c.*53G>T (n.*53G>T)
 gnomAD v4
11g.68036647delCA679544931NDUFS8c.*54del (n.*54del)
 dbSNP gnomAD v3 gnomAD v4
11g.68036647G>ACA224195398NDUFS8c.*54G>A (n.*54G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68036647G=CA1980452640NDUFS8c.*54G= (n.*54G=)
11g.68036648C>ACA2614693389 gnomAD v4
11g.68036648C>TCA2614693392 gnomAD v4
11g.68036649C>ACA2614693403 gnomAD v4
11g.68036649C=CA1980452645
11g.68036649C>TCA679544937 dbSNP gnomAD v3 gnomAD v4
11g.68036649_68036654delinsCTCTTGCA1980452644
11g.68036655_68036659delCA679544941 dbSNP
11g.68036652T>GCA2614693410 gnomAD v4
11g.68036652_68036653delCA2574899206
11g.68036653T>CCA679544944 dbSNP gnomAD v4
11g.68036653T=CA1980452649
11g.68036654G>TCA2614693414 gnomAD v4
11g.68036655T>CCA2614693416 gnomAD v4
11g.68036656C>GCA2614693417 gnomAD v4
11g.68036658dupCA2614693421 gnomAD v4
11g.68036658T>ACA2598478702 dbSNP gnomAD v3 gnomAD v4
11g.68036658T>CCA2614693424 gnomAD v4

Number of alleles fetched