UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68036305G>A | CA6146526 | NDUFS8 | c.425G>A (p.Arg142His) c.357G>A c.371G>A (p.Arg124His) c.*480G>A (n.*480G>A) c.-14G>A (n.-14G>A) n.277G>A c.305G>A (p.Arg102His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036305G>C | CA381569033 | NDUFS8 | c.425G>C (p.Arg142Pro) c.357G>C c.371G>C (p.Arg124Pro) c.*480G>C (n.*480G>C) c.-14G>C (n.-14G>C) n.277G>C c.305G>C (p.Arg102Pro) | |
| 11 | g.68036305G= | CA1980451890 | NDUFS8 | c.425G= (p.Arg142=) c.357G= c.371G= (p.Arg124=) c.*480G= (n.*480G=) c.-14G= (n.-14G=) n.277G= c.305G= (p.Arg102=) | |
| 11 | g.68036305G>T | CA381569036 | NDUFS8 | c.425G>T (p.Arg142Leu) c.357G>T c.371G>T (p.Arg124Leu) c.*480G>T (n.*480G>T) c.-14G>T (n.-14G>T) n.277G>T c.305G>T (p.Arg102Leu) | gnomAD v4 |
| 11 | g.68036306C>A | CA475441265 | NDUFS8 | c.426C>A (p.Arg142=) c.358C>A c.372C>A (p.Arg124=) c.*481C>A (n.*481C>A) c.-13C>A (n.-13C>A) n.278C>A c.306C>A (p.Arg102=) | |
| 11 | g.68036306C= | CA1980451891 | NDUFS8 | c.426C= (p.Arg142=) c.358C= c.372C= (p.Arg124=) c.*481C= (n.*481C=) c.-13C= (n.-13C=) n.278C= c.306C= (p.Arg102=) | |
| 11 | g.68036306C>G | CA6146527 | NDUFS8 | c.426C>G (p.Arg142=) c.358C>G c.372C>G (p.Arg124=) c.*481C>G (n.*481C>G) c.-13C>G (n.-13C>G) n.278C>G c.306C>G (p.Arg102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036306C>T | CA475441268 | NDUFS8 | c.426C>T (p.Arg142=) c.358C>T c.372C>T (p.Arg124=) c.*481C>T (n.*481C>T) c.-13C>T (n.-13C>T) n.278C>T c.306C>T (p.Arg102=) | dbSNP gnomAD v4 |
| 11 | g.68036307T>A | CA381569041 | NDUFS8 | c.427T>A (p.Tyr143Asn) c.359T>A c.373T>A (p.Tyr125Asn) c.*482T>A (n.*482T>A) c.-12T>A (n.-12T>A) n.279T>A c.307T>A (p.Tyr103Asn) | |
| 11 | g.68036307T>C | CA381569044 | NDUFS8 | c.427T>C (p.Tyr143His) c.359T>C c.373T>C (p.Tyr125His) c.*482T>C (n.*482T>C) c.-12T>C (n.-12T>C) n.279T>C c.307T>C (p.Tyr103His) | COSMIC |
| 11 | g.68036307T>G | CA381569047 | NDUFS8 | c.427T>G (p.Tyr143Asp) c.359T>G c.373T>G (p.Tyr125Asp) c.*482T>G (n.*482T>G) c.-12T>G (n.-12T>G) n.279T>G c.307T>G (p.Tyr103Asp) | |
| 11 | g.68036308A= | CA1980451893 | NDUFS8 | c.428A= (p.Tyr143=) c.360A= c.374A= (p.Tyr125=) c.*483A= (n.*483A=) c.-11A= (n.-11A=) n.280A= c.308A= (p.Tyr103=) | |
| 11 | g.68036308A>C | CA381569054 | NDUFS8 | c.428A>C (p.Tyr143Ser) c.360A>C c.374A>C (p.Tyr125Ser) c.*483A>C (n.*483A>C) c.-11A>C (n.-11A>C) n.280A>C c.308A>C (p.Tyr103Ser) | |
| 11 | g.68036308A>G | CA381569051 | NDUFS8 | c.428A>G (p.Tyr143Cys) c.360A>G c.374A>G (p.Tyr125Cys) c.*483A>G (n.*483A>G) c.-11A>G (n.-11A>G) n.280A>G c.308A>G (p.Tyr103Cys) | gnomAD v4 |
| 11 | g.68036308A>T | CA322246 | NDUFS8 | c.428A>T (p.Tyr143Phe) c.360A>T c.374A>T (p.Tyr125Phe) c.*483A>T (n.*483A>T) c.-11A>T (n.-11A>T) n.280A>T c.308A>T (p.Tyr103Phe) | ClinVar dbSNP |
| 11 | g.68036309T>A | CA381569058 | NDUFS8 | c.429T>A (p.Tyr143Ter) c.361T>A c.375T>A (p.Tyr125Ter) c.*484T>A (n.*484T>A) c.-10T>A (n.-10T>A) n.281T>A c.309T>A (p.Tyr103Ter) | |
| 11 | g.68036309T>C | CA6146528 | NDUFS8 | c.429T>C (p.Tyr143=) c.361T>C c.375T>C (p.Tyr125=) c.*484T>C (n.*484T>C) c.-10T>C (n.-10T>C) n.281T>C c.309T>C (p.Tyr103=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036309T>G | CA381569061 | NDUFS8 | c.429T>G (p.Tyr143Ter) c.361T>G c.375T>G (p.Tyr125Ter) c.*484T>G (n.*484T>G) c.-10T>G (n.-10T>G) n.281T>G c.309T>G (p.Tyr103Ter) | |
| 11 | g.68036309T= | CA1980451894 | NDUFS8 | c.429T= (p.Tyr143=) c.361T= c.375T= (p.Tyr125=) c.*484T= (n.*484T=) c.-10T= (n.-10T=) n.281T= c.309T= (p.Tyr103=) | |
| 11 | g.68036309_68036315delinsTGACATC | CA1980451895 | NDUFS8 | c.429_435delinsTGACATC (p.Tyr143=) c.361_367delinsTGACATC c.375_381delinsTGACATC (p.Tyr125=) c.*484_*490delinsTGACATC (n.*484_*490delinsTGACATC) c.-10_-4delinsTGACATC (n.-10_-4delinsTGACATC) n.281_287delinsTGACATC c.309_315delinsTGACATC (p.Tyr103=) | |
| 11 | g.68036310G>A | CA381569064 | NDUFS8 | c.430G>A (p.Asp144Asn) c.362G>A c.376G>A (p.Asp126Asn) c.*485G>A (n.*485G>A) c.-9G>A (n.-9G>A) n.282G>A c.310G>A (p.Asp104Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036310G>C | CA381569068 | NDUFS8 | c.430G>C (p.Asp144His) c.362G>C c.376G>C (p.Asp126His) c.*485G>C (n.*485G>C) c.-9G>C (n.-9G>C) n.282G>C c.310G>C (p.Asp104His) | |
| 11 | g.68036310G= | CA1980451896 | NDUFS8 | c.430G= (p.Asp144=) c.362G= c.376G= (p.Asp126=) c.*485G= (n.*485G=) c.-9G= (n.-9G=) n.282G= c.310G= (p.Asp104=) | |
| 11 | g.68036310G>T | CA381569070 | NDUFS8 | c.430G>T (p.Asp144Tyr) c.362G>T c.376G>T (p.Asp126Tyr) c.*485G>T (n.*485G>T) c.-9G>T (n.-9G>T) n.282G>T c.310G>T (p.Asp104Tyr) | |
| 11 | g.68036315_68036320del | CA679544341 | NDUFS8 | c.435_440del (p.Ile145_Asp146del) c.367_372del c.381_386del (p.Ile127_Asp128del) c.*490_*495del (n.*490_*495del) c.-4_2del (n.-4_2del) n.287_292del c.315_320del (p.Ile105_Asp106del) | dbSNP |
| 11 | g.68036311A>C | CA381569082 | NDUFS8 | c.431A>C (p.Asp144Ala) c.363A>C c.377A>C (p.Asp126Ala) c.*486A>C (n.*486A>C) c.-8A>C (n.-8A>C) n.283A>C c.311A>C (p.Asp104Ala) | |
| 11 | g.68036311A>G | CA381569089 | NDUFS8 | c.431A>G (p.Asp144Gly) c.363A>G c.377A>G (p.Asp126Gly) c.*486A>G (n.*486A>G) c.-8A>G (n.-8A>G) n.283A>G c.311A>G (p.Asp104Gly) | |
| 11 | g.68036311A>T | CA381569088 | NDUFS8 | c.431A>T (p.Asp144Val) c.363A>T c.377A>T (p.Asp126Val) c.*486A>T (n.*486A>T) c.-8A>T (n.-8A>T) n.283A>T c.311A>T (p.Asp104Val) | |
| 11 | g.68036312C>A | CA381569091 | NDUFS8 | c.432C>A (p.Asp144Glu) c.364C>A c.378C>A (p.Asp126Glu) c.*487C>A (n.*487C>A) c.-7C>A (n.-7C>A) n.284C>A c.312C>A (p.Asp104Glu) | |
| 11 | g.68036312C= | CA1980451900 | NDUFS8 | c.432C= (p.Asp144=) c.364C= c.378C= (p.Asp126=) c.*487C= (n.*487C=) c.-7C= (n.-7C=) n.284C= c.312C= (p.Asp104=) | |
| 11 | g.68036312C>G | CA381569094 | NDUFS8 | c.432C>G (p.Asp144Glu) c.364C>G c.378C>G (p.Asp126Glu) c.*487C>G (n.*487C>G) c.-7C>G (n.-7C>G) n.284C>G c.312C>G (p.Asp104Glu) | |
| 11 | g.68036312C>T | CA6146529 | NDUFS8 | c.432C>T (p.Asp144=) c.364C>T c.378C>T (p.Asp126=) c.*487C>T (n.*487C>T) c.-7C>T (n.-7C>T) n.284C>T c.312C>T (p.Asp104=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036313A= | CA1980451901 | NDUFS8 | c.433A= (p.Ile145=) c.365A= c.379A= (p.Ile127=) c.*488A= (n.*488A=) c.-6A= (n.-6A=) n.285A= c.313A= (p.Ile105=) | |
| 11 | g.68036313A>C | CA381569097 | NDUFS8 | c.433A>C (p.Ile145Leu) c.365A>C c.379A>C (p.Ile127Leu) c.*488A>C (n.*488A>C) c.-6A>C (n.-6A>C) n.285A>C c.313A>C (p.Ile105Leu) | |
| 11 | g.68036313A>G | CA6146530 | NDUFS8 | c.433A>G (p.Ile145Val) c.365A>G c.379A>G (p.Ile127Val) c.*488A>G (n.*488A>G) c.-6A>G (n.-6A>G) n.285A>G c.313A>G (p.Ile105Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036313A>T | CA381569100 | NDUFS8 | c.433A>T (p.Ile145Phe) c.365A>T c.379A>T (p.Ile127Phe) c.*488A>T (n.*488A>T) c.-6A>T (n.-6A>T) n.285A>T c.313A>T (p.Ile105Phe) | |
| 11 | g.68036314T>A | CA381569103 | NDUFS8 | c.434T>A (p.Ile145Asn) c.366T>A c.380T>A (p.Ile127Asn) c.*489T>A (n.*489T>A) c.-5T>A (n.-5T>A) n.286T>A c.314T>A (p.Ile105Asn) | |
| 11 | g.68036314T>C | CA381569106 | NDUFS8 | c.434T>C (p.Ile145Thr) c.366T>C c.380T>C (p.Ile127Thr) c.*489T>C (n.*489T>C) c.-5T>C (n.-5T>C) n.286T>C c.314T>C (p.Ile105Thr) | dbSNP gnomAD v4 |
| 11 | g.68036314T>G | CA381569107 | NDUFS8 | c.434T>G (p.Ile145Ser) c.366T>G c.380T>G (p.Ile127Ser) c.*489T>G (n.*489T>G) c.-5T>G (n.-5T>G) n.286T>G c.314T>G (p.Ile105Ser) | |
| 11 | g.68036314T= | CA1980451902 | NDUFS8 | c.434T= (p.Ile145=) c.366T= c.380T= (p.Ile127=) c.*489T= (n.*489T=) c.-5T= (n.-5T=) n.286T= c.314T= (p.Ile105=) | |
| 11 | g.68036315C>A | CA6146531 | NDUFS8 | c.435C>A (p.Ile145=) c.367C>A c.381C>A (p.Ile127=) c.*490C>A (n.*490C>A) c.-4C>A (n.-4C>A) n.287C>A c.315C>A (p.Ile105=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036315C= | CA1980451903 | NDUFS8 | c.435C= (p.Ile145=) c.367C= c.381C= (p.Ile127=) c.*490C= (n.*490C=) c.-4C= (n.-4C=) n.287C= c.315C= (p.Ile105=) | |
| 11 | g.68036315C>G | CA381569112 | NDUFS8 | c.435C>G (p.Ile145Met) c.367C>G c.381C>G (p.Ile127Met) c.*490C>G (n.*490C>G) c.-4C>G (n.-4C>G) n.287C>G c.315C>G (p.Ile105Met) | |
| 11 | g.68036315C>T | CA6146532 | NDUFS8 | c.435C>T (p.Ile145=) c.367C>T c.381C>T (p.Ile127=) c.*490C>T (n.*490C>T) c.-4C>T (n.-4C>T) n.287C>T c.315C>T (p.Ile105=) | dbSNP ExAC gnomAD v4 COSMIC |
| 11 | g.68036316G>A | CA6146533 | NDUFS8 | c.436G>A (p.Asp146Asn) c.368G>A c.382G>A (p.Asp128Asn) c.*491G>A (n.*491G>A) c.-3G>A (n.-3G>A) n.288G>A c.316G>A (p.Asp106Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68036316G>C | CA381569124 | NDUFS8 | c.436G>C (p.Asp146His) c.368G>C c.382G>C (p.Asp128His) c.*491G>C (n.*491G>C) c.-3G>C (n.-3G>C) n.288G>C c.316G>C (p.Asp106His) | |
| 11 | g.68036316G= | CA1980451906 | NDUFS8 | c.436G= (p.Asp146=) c.368G= c.382G= (p.Asp128=) c.*491G= (n.*491G=) c.-3G= (n.-3G=) n.288G= c.316G= (p.Asp106=) | |
| 11 | g.68036316G>T | CA381569122 | NDUFS8 | c.436G>T (p.Asp146Tyr) c.368G>T c.382G>T (p.Asp128Tyr) c.*491G>T (n.*491G>T) c.-3G>T (n.-3G>T) n.288G>T c.316G>T (p.Asp106Tyr) | |
| 11 | g.68036317A>C | CA381569128 | NDUFS8 | c.437A>C (p.Asp146Ala) c.369A>C c.383A>C (p.Asp128Ala) c.*492A>C (n.*492A>C) c.-2A>C (n.-2A>C) n.289A>C c.317A>C (p.Asp106Ala) | |
| 11 | g.68036317A>G | CA381569131 | NDUFS8 | c.437A>G (p.Asp146Gly) c.369A>G c.383A>G (p.Asp128Gly) c.*492A>G (n.*492A>G) c.-2A>G (n.-2A>G) n.289A>G c.317A>G (p.Asp106Gly) | |
| 11 | g.68036317A>T | CA381569134 | NDUFS8 | c.437A>T (p.Asp146Val) c.369A>T c.383A>T (p.Asp128Val) c.*492A>T (n.*492A>T) c.-2A>T (n.-2A>T) n.289A>T c.317A>T (p.Asp106Val) | |
| 11 | g.68036318C>A | CA381569136 | NDUFS8 | c.438C>A (p.Asp146Glu) c.370C>A c.384C>A (p.Asp128Glu) c.*493C>A (n.*493C>A) c.-1C>A (n.-1C>A) n.290C>A c.318C>A (p.Asp106Glu) | |
| 11 | g.68036318C>G | CA381569138 | NDUFS8 | c.438C>G (p.Asp146Glu) c.370C>G c.384C>G (p.Asp128Glu) c.*493C>G (n.*493C>G) c.-1C>G (n.-1C>G) n.290C>G c.318C>G (p.Asp106Glu) | |
| 11 | g.68036318C>T | CA475441325 | NDUFS8 | c.438C>T (p.Asp146=) c.370C>T c.384C>T (p.Asp128=) c.*493C>T (n.*493C>T) c.-1C>T (n.-1C>T) n.290C>T c.318C>T (p.Asp106=) | gnomAD v4 |
| 11 | g.68036319A= | CA1980451908 | NDUFS8 | c.439A= (p.Met147=) c.371A= c.385A= (p.Met129=) c.*494A= (n.*494A=) c.1A= (p.Met1=) n.291A= c.319A= (p.Met107=) | |
| 11 | g.68036319A>C | CA381569152 | NDUFS8 | c.439A>C (p.Met147Leu) c.371A>C c.385A>C (p.Met129Leu) c.*494A>C (n.*494A>C) c.1A>C (p.Met1Leu) n.291A>C c.319A>C (p.Met107Leu) | dbSNP |
| 11 | g.68036319A>G | CA381569149 | NDUFS8 | c.439A>G (p.Met147Val) c.371A>G c.385A>G (p.Met129Val) c.*494A>G (n.*494A>G) c.1A>G (p.Met1Val) n.291A>G c.319A>G (p.Met107Val) | |
| 11 | g.68036319A>T | CA381569147 | NDUFS8 | c.439A>T (p.Met147Leu) c.371A>T c.385A>T (p.Met129Leu) c.*494A>T (n.*494A>T) c.1A>T (p.Met1Leu) n.291A>T c.319A>T (p.Met107Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036320T>A | CA381569156 | NDUFS8 | c.440T>A (p.Met147Lys) c.372T>A c.386T>A (p.Met129Lys) c.*495T>A (n.*495T>A) c.2T>A (p.Met1Lys) n.292T>A c.320T>A (p.Met107Lys) | |
| 11 | g.68036320T>C | CA381569162 | NDUFS8 | c.440T>C (p.Met147Thr) c.372T>C c.386T>C (p.Met129Thr) c.*495T>C (n.*495T>C) c.2T>C (p.Met1Thr) n.292T>C c.320T>C (p.Met107Thr) | |
| 11 | g.68036320T>G | CA381569165 | NDUFS8 | c.440T>G (p.Met147Arg) c.372T>G c.386T>G (p.Met129Arg) c.*495T>G (n.*495T>G) c.2T>G (p.Met1Arg) n.292T>G c.320T>G (p.Met107Arg) | |
| 11 | g.68036321G>A | CA381569169 | NDUFS8 | c.441G>A (p.Met147Ile) c.373G>A c.387G>A (p.Met129Ile) c.*496G>A (n.*496G>A) c.3G>A (p.Met1Ile) n.293G>A c.321G>A (p.Met107Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036321G>C | CA381569172 | NDUFS8 | c.441G>C (p.Met147Ile) c.373G>C c.387G>C (p.Met129Ile) c.*496G>C (n.*496G>C) c.3G>C (p.Met1Ile) n.293G>C c.321G>C (p.Met107Ile) | ClinVar dbSNP |
| 11 | g.68036321G= | CA1980451910 | NDUFS8 | c.441G= (p.Met147=) c.373G= c.387G= (p.Met129=) c.*496G= (n.*496G=) c.3G= (p.Met1=) n.293G= c.321G= (p.Met107=) | |
| 11 | g.68036321G>T | CA381569174 | NDUFS8 | c.441G>T (p.Met147Ile) c.373G>T c.387G>T (p.Met129Ile) c.*496G>T (n.*496G>T) c.3G>T (p.Met1Ile) n.293G>T c.321G>T (p.Met107Ile) | gnomAD v4 |
| 11 | g.68036322A= | CA1980451912 | NDUFS8 | c.442A= (p.Thr148=) c.374A= c.388A= (p.Thr130=) c.*497A= (n.*497A=) c.4A= (p.Thr2=) n.294A= c.322A= (p.Thr108=) | |
| 11 | g.68036322A>C | CA381569176 | NDUFS8 | c.442A>C (p.Thr148Pro) c.374A>C c.388A>C (p.Thr130Pro) c.*497A>C (n.*497A>C) c.4A>C (p.Thr2Pro) n.294A>C c.322A>C (p.Thr108Pro) | |
| 11 | g.68036322A>G | CA381569183 | NDUFS8 | c.442A>G (p.Thr148Ala) c.374A>G c.388A>G (p.Thr130Ala) c.*497A>G (n.*497A>G) c.4A>G (p.Thr2Ala) n.294A>G c.322A>G (p.Thr108Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036322A>T | CA381569179 | NDUFS8 | c.442A>T (p.Thr148Ser) c.374A>T c.388A>T (p.Thr130Ser) c.*497A>T (n.*497A>T) c.4A>T (p.Thr2Ser) n.294A>T c.322A>T (p.Thr108Ser) | dbSNP |
| 11 | g.68036323C>A | CA381569187 | NDUFS8 | c.443C>A (p.Thr148Asn) c.375C>A c.389C>A (p.Thr130Asn) c.*498C>A (n.*498C>A) c.5C>A (p.Thr2Asn) n.295C>A c.323C>A (p.Thr108Asn) | |
| 11 | g.68036323C= | CA1980451914 | NDUFS8 | c.443C= (p.Thr148=) c.375C= c.389C= (p.Thr130=) c.*498C= (n.*498C=) c.5C= (p.Thr2=) n.295C= c.323C= (p.Thr108=) | |
| 11 | g.68036323C>G | CA381569189 | NDUFS8 | c.443C>G (p.Thr148Ser) c.375C>G c.389C>G (p.Thr130Ser) c.*498C>G (n.*498C>G) c.5C>G (p.Thr2Ser) n.295C>G c.323C>G (p.Thr108Ser) | |
| 11 | g.68036323C>T | CA381569190 | NDUFS8 | c.443C>T (p.Thr148Ile) c.375C>T c.389C>T (p.Thr130Ile) c.*498C>T (n.*498C>T) c.5C>T (p.Thr2Ile) n.295C>T c.323C>T (p.Thr108Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036324C>A | CA475441355 | NDUFS8 | c.444C>A (p.Thr148=) c.376C>A c.390C>A (p.Thr130=) c.*499C>A (n.*499C>A) c.6C>A (p.Thr2=) n.296C>A c.324C>A (p.Thr108=) | |
| 11 | g.68036324C= | CA1980451916 | NDUFS8 | c.444C= (p.Thr148=) c.376C= c.390C= (p.Thr130=) c.*499C= (n.*499C=) c.6C= (p.Thr2=) n.296C= c.324C= (p.Thr108=) | |
| 11 | g.68036324C>G | CA475441352 | NDUFS8 | c.444C>G (p.Thr148=) c.376C>G c.390C>G (p.Thr130=) c.*499C>G (n.*499C>G) c.6C>G (p.Thr2=) n.296C>G c.324C>G (p.Thr108=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036324C>T | CA475441354 | NDUFS8 | c.444C>T (p.Thr148=) c.376C>T c.390C>T (p.Thr130=) c.*499C>T (n.*499C>T) c.6C>T (p.Thr2=) n.296C>T c.324C>T (p.Thr108=) | gnomAD v4 |
| 11 | g.68036325A>C | CA381569193 | NDUFS8 | c.445A>C (p.Lys149Gln) c.377A>C c.391A>C (p.Lys131Gln) c.*500A>C (n.*500A>C) c.7A>C (p.Lys3Gln) n.297A>C c.325A>C (p.Lys109Gln) | |
| 11 | g.68036325A>G | CA381569196 | NDUFS8 | c.445A>G (p.Lys149Glu) c.377A>G c.391A>G (p.Lys131Glu) c.*500A>G (n.*500A>G) c.7A>G (p.Lys3Glu) n.297A>G c.325A>G (p.Lys109Glu) | |
| 11 | g.68036325A>T | CA381569199 | NDUFS8 | c.445A>T (p.Lys149Ter) c.377A>T c.391A>T (p.Lys131Ter) c.*500A>T (n.*500A>T) c.7A>T (p.Lys3Ter) n.297A>T c.325A>T (p.Lys109Ter) | |
| 11 | g.68036326A>C | CA381569201 | NDUFS8 | c.446A>C (p.Lys149Thr) c.378A>C c.392A>C (p.Lys131Thr) c.*501A>C (n.*501A>C) c.8A>C (p.Lys3Thr) n.298A>C c.326A>C (p.Lys109Thr) | |
| 11 | g.68036326A>G | CA381569203 | NDUFS8 | c.446A>G (p.Lys149Arg) c.378A>G c.392A>G (p.Lys131Arg) c.*501A>G (n.*501A>G) c.8A>G (p.Lys3Arg) n.298A>G c.326A>G (p.Lys109Arg) | |
| 11 | g.68036326A>T | CA381569205 | NDUFS8 | c.446A>T (p.Lys149Met) c.378A>T c.392A>T (p.Lys131Met) c.*501A>T (n.*501A>T) c.8A>T (p.Lys3Met) n.298A>T c.326A>T (p.Lys109Met) | |
| 11 | g.68036327G>A | CA475441367 | NDUFS8 | c.447G>A (p.Lys149=) c.379G>A c.393G>A (p.Lys131=) c.*502G>A (n.*502G>A) c.9G>A (p.Lys3=) n.299G>A c.327G>A (p.Lys109=) | dbSNP |
| 11 | g.68036327G>C | CA381569207 | NDUFS8 | c.447G>C (p.Lys149Asn) c.379G>C c.393G>C (p.Lys131Asn) c.*502G>C (n.*502G>C) c.9G>C (p.Lys3Asn) n.299G>C c.327G>C (p.Lys109Asn) | |
| 11 | g.68036327G= | CA1980451917 | NDUFS8 | c.447G= (p.Lys149=) c.379G= c.393G= (p.Lys131=) c.*502G= (n.*502G=) c.9G= (p.Lys3=) n.299G= c.327G= (p.Lys109=) | |
| 11 | g.68036327G>T | CA381569209 | NDUFS8 | c.447G>T (p.Lys149Asn) c.379G>T c.393G>T (p.Lys131Asn) c.*502G>T (n.*502G>T) c.9G>T (p.Lys3Asn) n.299G>T c.327G>T (p.Lys109Asn) | |
| 11 | g.68036328T>A | CA381569212 | NDUFS8 | c.448T>A (p.Cys150Ser) c.380T>A c.394T>A (p.Cys132Ser) c.*503T>A (n.*503T>A) c.10T>A (p.Cys4Ser) n.300T>A c.328T>A (p.Cys110Ser) | |
| 11 | g.68036328T>C | CA381569217 | NDUFS8 | c.448T>C (p.Cys150Arg) c.380T>C c.394T>C (p.Cys132Arg) c.*503T>C (n.*503T>C) c.10T>C (p.Cys4Arg) n.300T>C c.328T>C (p.Cys110Arg) | |
| 11 | g.68036328T>G | CA381569214 | NDUFS8 | c.448T>G (p.Cys150Gly) c.380T>G c.394T>G (p.Cys132Gly) c.*503T>G (n.*503T>G) c.10T>G (p.Cys4Gly) n.300T>G c.328T>G (p.Cys110Gly) | |
| 11 | g.68036329G>A | CA381569220 | NDUFS8 | c.449G>A (p.Cys150Tyr) c.381G>A c.395G>A (p.Cys132Tyr) c.*504G>A (n.*504G>A) c.11G>A (p.Cys4Tyr) n.301G>A c.329G>A (p.Cys110Tyr) | dbSNP |
| 11 | g.68036329G>C | CA381569226 | NDUFS8 | c.449G>C (p.Cys150Ser) c.381G>C c.395G>C (p.Cys132Ser) c.*504G>C (n.*504G>C) c.11G>C (p.Cys4Ser) n.301G>C c.329G>C (p.Cys110Ser) | |
| 11 | g.68036329G= | CA1980451919 | NDUFS8 | c.449G= (p.Cys150=) c.381G= c.395G= (p.Cys132=) c.*504G= (n.*504G=) c.11G= (p.Cys4=) n.301G= c.329G= (p.Cys110=) | |
| 11 | g.68036329G>T | CA381569223 | NDUFS8 | c.449G>T (p.Cys150Phe) c.381G>T c.395G>T (p.Cys132Phe) c.*504G>T (n.*504G>T) c.11G>T (p.Cys4Phe) n.301G>T c.329G>T (p.Cys110Phe) | |
| 11 | g.68036330C>A | CA381569228 | NDUFS8 | c.450C>A (p.Cys150Ter) c.382C>A c.396C>A (p.Cys132Ter) c.*505C>A (n.*505C>A) c.12C>A (p.Cys4Ter) n.302C>A c.330C>A (p.Cys110Ter) | |
| 11 | g.68036330C= | CA1980451922 | NDUFS8 | c.450C= (p.Cys150=) c.382C= c.396C= (p.Cys132=) c.*505C= (n.*505C=) c.12C= (p.Cys4=) n.302C= c.330C= (p.Cys110=) | |
| 11 | g.68036330C>G | CA381569230 | NDUFS8 | c.450C>G (p.Cys150Trp) c.382C>G c.396C>G (p.Cys132Trp) c.*505C>G (n.*505C>G) c.12C>G (p.Cys4Trp) n.302C>G c.330C>G (p.Cys110Trp) | |
| 11 | g.68036330C>T | CA475442305 | NDUFS8 | c.450C>T (p.Cys150=) c.382C>T c.396C>T (p.Cys132=) c.*505C>T (n.*505C>T) c.12C>T (p.Cys4=) n.302C>T c.330C>T (p.Cys110=) | dbSNP gnomAD v4 |
| 11 | g.68036331A= | CA1980451924 | NDUFS8 | c.451A= (p.Ile151=) c.383A= c.397A= (p.Ile133=) c.*506A= (n.*506A=) c.13A= (p.Ile5=) n.303A= c.331A= (p.Ile111=) | |
| 11 | g.68036331A>C | CA381569233 | NDUFS8 | c.451A>C (p.Ile151Leu) c.383A>C c.397A>C (p.Ile133Leu) c.*506A>C (n.*506A>C) c.13A>C (p.Ile5Leu) n.303A>C c.331A>C (p.Ile111Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036331A>G | CA381569235 | NDUFS8 | c.451A>G (p.Ile151Val) c.383A>G c.397A>G (p.Ile133Val) c.*506A>G (n.*506A>G) c.13A>G (p.Ile5Val) n.303A>G c.331A>G (p.Ile111Val) | gnomAD v4 |
| 11 | g.68036331A>T | CA381569238 | NDUFS8 | c.451A>T (p.Ile151Phe) c.383A>T c.397A>T (p.Ile133Phe) c.*506A>T (n.*506A>T) c.13A>T (p.Ile5Phe) n.303A>T c.331A>T (p.Ile111Phe) | |
| 11 | g.68036332T>A | CA381569241 | NDUFS8 | c.452T>A (p.Ile151Asn) c.384T>A c.398T>A (p.Ile133Asn) c.*507T>A (n.*507T>A) c.14T>A (p.Ile5Asn) n.304T>A c.332T>A (p.Ile111Asn) | |
| 11 | g.68036332T>C | CA381569244 | NDUFS8 | c.452T>C (p.Ile151Thr) c.384T>C c.398T>C (p.Ile133Thr) c.*507T>C (n.*507T>C) c.14T>C (p.Ile5Thr) n.304T>C c.332T>C (p.Ile111Thr) | |
| 11 | g.68036332T>G | CA381569246 | NDUFS8 | c.452T>G (p.Ile151Ser) c.384T>G c.398T>G (p.Ile133Ser) c.*507T>G (n.*507T>G) c.14T>G (p.Ile5Ser) n.304T>G c.332T>G (p.Ile111Ser) | |
| 11 | g.68036333C>A | CA475442318 | NDUFS8 | c.453C>A (p.Ile151=) c.385C>A c.399C>A (p.Ile133=) c.*508C>A (n.*508C>A) c.15C>A (p.Ile5=) n.305C>A c.333C>A (p.Ile111=) | |
| 11 | g.68036333C= | CA1980451928 | NDUFS8 | c.453C= (p.Ile151=) c.385C= c.399C= (p.Ile133=) c.*508C= (n.*508C=) c.15C= (p.Ile5=) n.305C= c.333C= (p.Ile111=) | |
| 11 | g.68036333C>G | CA381569249 | NDUFS8 | c.453C>G (p.Ile151Met) c.385C>G c.399C>G (p.Ile133Met) c.*508C>G (n.*508C>G) c.15C>G (p.Ile5Met) n.305C>G c.333C>G (p.Ile111Met) | |
| 11 | g.68036333C>T | CA475442321 | NDUFS8 | c.453C>T (p.Ile151=) c.385C>T c.399C>T (p.Ile133=) c.*508C>T (n.*508C>T) c.15C>T (p.Ile5=) n.305C>T c.333C>T (p.Ile111=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036334T>A | CA381569253 | NDUFS8 | c.454T>A (p.Tyr152Asn) c.386T>A c.400T>A (p.Tyr134Asn) c.*509T>A (n.*509T>A) c.16T>A (p.Tyr6Asn) n.306T>A c.334T>A (p.Tyr112Asn) | |
| 11 | g.68036334T>C | CA381569254 | NDUFS8 | c.454T>C (p.Tyr152His) c.386T>C c.400T>C (p.Tyr134His) c.*509T>C (n.*509T>C) c.16T>C (p.Tyr6His) n.306T>C c.334T>C (p.Tyr112His) | ClinVar dbSNP |
| 11 | g.68036334T>G | CA381569257 | NDUFS8 | c.454T>G (p.Tyr152Asp) c.386T>G c.400T>G (p.Tyr134Asp) c.*509T>G (n.*509T>G) c.16T>G (p.Tyr6Asp) n.306T>G c.334T>G (p.Tyr112Asp) | |
| 11 | g.68036334T= | CA1980451930 | NDUFS8 | c.454T= (p.Tyr152=) c.386T= c.400T= (p.Tyr134=) c.*509T= (n.*509T=) c.16T= (p.Tyr6=) n.306T= c.334T= (p.Tyr112=) | |
| 11 | g.68036335A= | CA1980451932 | NDUFS8 | c.455A= (p.Tyr152=) c.387A= c.401A= (p.Tyr134=) c.*510A= (n.*510A=) c.17A= (p.Tyr6=) n.307A= c.335A= (p.Tyr112=) | |
| 11 | g.68036335A>C | CA381569262 | NDUFS8 | c.455A>C (p.Tyr152Ser) c.387A>C c.401A>C (p.Tyr134Ser) c.*510A>C (n.*510A>C) c.17A>C (p.Tyr6Ser) n.307A>C c.335A>C (p.Tyr112Ser) | |
| 11 | g.68036335A>G | CA381569265 | NDUFS8 | c.455A>G (p.Tyr152Cys) c.387A>G c.401A>G (p.Tyr134Cys) c.*510A>G (n.*510A>G) c.17A>G (p.Tyr6Cys) n.307A>G c.335A>G (p.Tyr112Cys) | |
| 11 | g.68036335A>T | CA381569263 | NDUFS8 | c.455A>T (p.Tyr152Phe) c.387A>T c.401A>T (p.Tyr134Phe) c.*510A>T (n.*510A>T) c.17A>T (p.Tyr6Phe) n.307A>T c.335A>T (p.Tyr112Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036336C>A | CA381569269 | NDUFS8 | c.456C>A (p.Tyr152Ter) c.388C>A c.402C>A (p.Tyr134Ter) c.*511C>A (n.*511C>A) c.18C>A (p.Tyr6Ter) n.308C>A c.336C>A (p.Tyr112Ter) | |
| 11 | g.68036336C= | CA1980451937 | NDUFS8 | c.456C= (p.Tyr152=) c.388C= c.402C= (p.Tyr134=) c.*511C= (n.*511C=) c.18C= (p.Tyr6=) n.308C= c.336C= (p.Tyr112=) | |
| 11 | g.68036336C>G | CA381569272 | NDUFS8 | c.456C>G (p.Tyr152Ter) c.388C>G c.402C>G (p.Tyr134Ter) c.*511C>G (n.*511C>G) c.18C>G (p.Tyr6Ter) n.308C>G c.336C>G (p.Tyr112Ter) | |
| 11 | g.68036336C>T | CA6146534 | NDUFS8 | c.456C>T (p.Tyr152=) c.388C>T c.402C>T (p.Tyr134=) c.*511C>T (n.*511C>T) c.18C>T (p.Tyr6=) n.308C>T c.336C>T (p.Tyr112=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036337T>A | CA381569273 | NDUFS8 | c.457T>A (p.Cys153Ser) c.389T>A c.403T>A (p.Cys135Ser) c.*512T>A (n.*512T>A) c.19T>A (p.Cys7Ser) n.309T>A c.337T>A (p.Cys113Ser) | |
| 11 | g.68036337T>C | CA381569280 | NDUFS8 | c.457T>C (p.Cys153Arg) c.389T>C c.403T>C (p.Cys135Arg) c.*512T>C (n.*512T>C) c.19T>C (p.Cys7Arg) n.309T>C c.337T>C (p.Cys113Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036337T>G | CA381569281 | NDUFS8 | c.457T>G (p.Cys153Gly) c.389T>G c.403T>G (p.Cys135Gly) c.*512T>G (n.*512T>G) c.19T>G (p.Cys7Gly) n.309T>G c.337T>G (p.Cys113Gly) | |
| 11 | g.68036337T= | CA1980451939 | NDUFS8 | c.457T= (p.Cys153=) c.389T= c.403T= (p.Cys135=) c.*512T= (n.*512T=) c.19T= (p.Cys7=) n.309T= c.337T= (p.Cys113=) | |
| 11 | g.68036338G>A | CA381569283 | NDUFS8 | c.458G>A (p.Cys153Tyr) c.390G>A c.404G>A (p.Cys135Tyr) c.*513G>A (n.*513G>A) c.20G>A (p.Cys7Tyr) n.310G>A c.338G>A (p.Cys113Tyr) | |
| 11 | g.68036338G>C | CA381569286 | NDUFS8 | c.458G>C (p.Cys153Ser) c.390G>C c.404G>C (p.Cys135Ser) c.*513G>C (n.*513G>C) c.20G>C (p.Cys7Ser) n.310G>C c.338G>C (p.Cys113Ser) | gnomAD v4 |
| 11 | g.68036338G>T | CA381569294 | NDUFS8 | c.458G>T (p.Cys153Phe) c.390G>T c.404G>T (p.Cys135Phe) c.*513G>T (n.*513G>T) c.20G>T (p.Cys7Phe) n.310G>T c.338G>T (p.Cys113Phe) | |
| 11 | g.68036339C>A | CA381569296 | NDUFS8 | c.459C>A (p.Cys153Ter) c.391C>A c.405C>A (p.Cys135Ter) c.*514C>A (n.*514C>A) c.21C>A (p.Cys7Ter) n.311C>A c.339C>A (p.Cys113Ter) | |
| 11 | g.68036339C= | CA1980451944 | NDUFS8 | c.459C= (p.Cys153=) c.391C= c.405C= (p.Cys135=) c.*514C= (n.*514C=) c.21C= (p.Cys7=) n.311C= c.339C= (p.Cys113=) | |
| 11 | g.68036339C>G | CA381569298 | NDUFS8 | c.459C>G (p.Cys153Trp) c.391C>G c.405C>G (p.Cys135Trp) c.*514C>G (n.*514C>G) c.21C>G (p.Cys7Trp) n.311C>G c.339C>G (p.Cys113Trp) | |
| 11 | g.68036339C>T | CA6146535 | NDUFS8 | c.459C>T (p.Cys153=) c.391C>T c.405C>T (p.Cys135=) c.*514C>T (n.*514C>T) c.21C>T (p.Cys7=) n.311C>T c.339C>T (p.Cys113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036340G>A | CA224194909 | NDUFS8 | c.460G>A (p.Gly154Ser) c.392G>A c.406G>A (p.Gly136Ser) c.*515G>A (n.*515G>A) c.22G>A (p.Gly8Ser) n.312G>A c.340G>A (p.Gly114Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036340G>C | CA381569303 | NDUFS8 | c.460G>C (p.Gly154Arg) c.392G>C c.406G>C (p.Gly136Arg) c.*515G>C (n.*515G>C) c.22G>C (p.Gly8Arg) n.312G>C c.340G>C (p.Gly114Arg) | |
| 11 | g.68036340G= | CA1980451950 | NDUFS8 | c.460G= (p.Gly154=) c.392G= c.406G= (p.Gly136=) c.*515G= (n.*515G=) c.22G= (p.Gly8=) n.312G= c.340G= (p.Gly114=) | |
| 11 | g.68036340G>T | CA381569305 | NDUFS8 | c.460G>T (p.Gly154Cys) c.392G>T c.406G>T (p.Gly136Cys) c.*515G>T (n.*515G>T) c.22G>T (p.Gly8Cys) n.312G>T c.340G>T (p.Gly114Cys) | |
| 11 | g.68036341G>A | CA381569309 | NDUFS8 | c.461G>A (p.Gly154Asp) c.393G>A c.407G>A (p.Gly136Asp) c.*516G>A (n.*516G>A) c.23G>A (p.Gly8Asp) n.313G>A c.341G>A (p.Gly114Asp) | |
| 11 | g.68036341G>C | CA381569311 | NDUFS8 | c.461G>C (p.Gly154Ala) c.393G>C c.407G>C (p.Gly136Ala) c.*516G>C (n.*516G>C) c.23G>C (p.Gly8Ala) n.313G>C c.341G>C (p.Gly114Ala) | |
| 11 | g.68036341G>T | CA381569313 | NDUFS8 | c.461G>T (p.Gly154Val) c.393G>T c.407G>T (p.Gly136Val) c.*516G>T (n.*516G>T) c.23G>T (p.Gly8Val) n.313G>T c.341G>T (p.Gly114Val) | gnomAD v4 |
| 11 | g.68036342C>A | CA6146536 | NDUFS8 | c.462C>A (p.Gly154=) c.394C>A c.408C>A (p.Gly136=) c.*517C>A (n.*517C>A) c.24C>A (p.Gly8=) n.314C>A c.342C>A (p.Gly114=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036342C= | CA1980451955 | NDUFS8 | c.462C= (p.Gly154=) c.394C= c.408C= (p.Gly136=) c.*517C= (n.*517C=) c.24C= (p.Gly8=) n.314C= c.342C= (p.Gly114=) | |
| 11 | g.68036342C>G | CA475442358 | NDUFS8 | c.462C>G (p.Gly154=) c.394C>G c.408C>G (p.Gly136=) c.*517C>G (n.*517C>G) c.24C>G (p.Gly8=) n.314C>G c.342C>G (p.Gly114=) | |
| 11 | g.68036342C>T | CA475442360 | NDUFS8 | c.462C>T (p.Gly154=) c.394C>T c.408C>T (p.Gly136=) c.*517C>T (n.*517C>T) c.24C>T (p.Gly8=) n.314C>T c.342C>T (p.Gly114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036342_68036343del | CA2504381522 | NDUFS8 | c.462_463del (p.Phe155LeufsTer17) c.394_395del c.408_409del (p.Phe137LeufsTer?) c.*517_*518del (n.*517_*518del) c.24_25del (p.Phe9LeufsTer17) n.314_315del c.342_343del (p.Phe115LeufsTer17) | |
| 11 | g.68036343T>A | CA381569317 | NDUFS8 | c.463T>A (p.Phe155Ile) c.395T>A c.409T>A (p.Phe137Ile) c.*518T>A (n.*518T>A) c.25T>A (p.Phe9Ile) n.315T>A c.343T>A (p.Phe115Ile) | gnomAD v3 gnomAD v4 |
| 11 | g.68036343T>C | CA381569320 | NDUFS8 | c.463T>C (p.Phe155Leu) c.395T>C c.409T>C (p.Phe137Leu) c.*518T>C (n.*518T>C) c.25T>C (p.Phe9Leu) n.315T>C c.343T>C (p.Phe115Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036343T>G | CA381569322 | NDUFS8 | c.463T>G (p.Phe155Val) c.395T>G c.409T>G (p.Phe137Val) c.*518T>G (n.*518T>G) c.25T>G (p.Phe9Val) n.315T>G c.343T>G (p.Phe115Val) | |
| 11 | g.68036343T= | CA1980451961 | NDUFS8 | c.463T= (p.Phe155=) c.395T= c.409T= (p.Phe137=) c.*518T= (n.*518T=) c.25T= (p.Phe9=) n.315T= c.343T= (p.Phe115=) | |
| 11 | g.68036344T>A | CA381569325 | NDUFS8 | c.464T>A (p.Phe155Tyr) c.396T>A c.410T>A (p.Phe137Tyr) c.*519T>A (n.*519T>A) c.26T>A (p.Phe9Tyr) n.316T>A c.344T>A (p.Phe115Tyr) | |
| 11 | g.68036344T>C | CA381569326 | NDUFS8 | c.464T>C (p.Phe155Ser) c.396T>C c.410T>C (p.Phe137Ser) c.*519T>C (n.*519T>C) c.26T>C (p.Phe9Ser) n.316T>C c.344T>C (p.Phe115Ser) | |
| 11 | g.68036344T>G | CA381569327 | NDUFS8 | c.464T>G (p.Phe155Cys) c.396T>G c.410T>G (p.Phe137Cys) c.*519T>G (n.*519T>G) c.26T>G (p.Phe9Cys) n.316T>G c.344T>G (p.Phe115Cys) | |
| 11 | g.68036345C>A | CA381569329 | NDUFS8 | c.465C>A (p.Phe155Leu) c.397C>A c.411C>A (p.Phe137Leu) c.*520C>A (n.*520C>A) c.27C>A (p.Phe9Leu) n.317C>A c.345C>A (p.Phe115Leu) | |
| 11 | g.68036345C= | CA1980451964 | NDUFS8 | c.465C= (p.Phe155=) c.397C= c.411C= (p.Phe137=) c.*520C= (n.*520C=) c.27C= (p.Phe9=) n.317C= c.345C= (p.Phe115=) | |
| 11 | g.68036345C>G | CA381569328 | NDUFS8 | c.465C>G (p.Phe155Leu) c.397C>G c.411C>G (p.Phe137Leu) c.*520C>G (n.*520C>G) c.27C>G (p.Phe9Leu) n.317C>G c.345C>G (p.Phe115Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036345C>T | CA475442373 | NDUFS8 | c.465C>T (p.Phe155=) c.397C>T c.411C>T (p.Phe137=) c.*520C>T (n.*520C>T) c.27C>T (p.Phe9=) n.317C>T c.345C>T (p.Phe115=) | dbSNP gnomAD v2 |
| 11 | g.68036346T>A | CA381569331 | NDUFS8 | c.466T>A (p.Cys156Ser) c.398T>A c.412T>A (p.Cys138Ser) c.*521T>A (n.*521T>A) c.28T>A (p.Cys10Ser) n.318T>A c.346T>A (p.Cys116Ser) | |
| 11 | g.68036346T>C | CA381569334 | NDUFS8 | c.466T>C (p.Cys156Arg) c.398T>C c.412T>C (p.Cys138Arg) c.*521T>C (n.*521T>C) c.28T>C (p.Cys10Arg) n.318T>C c.346T>C (p.Cys116Arg) | dbSNP gnomAD v2 |
| 11 | g.68036346T>G | CA381569335 | NDUFS8 | c.466T>G (p.Cys156Gly) c.398T>G c.412T>G (p.Cys138Gly) c.*521T>G (n.*521T>G) c.28T>G (p.Cys10Gly) n.318T>G c.346T>G (p.Cys116Gly) | |
| 11 | g.68036346T= | CA1980451968 | NDUFS8 | c.466T= (p.Cys156=) c.398T= c.412T= (p.Cys138=) c.*521T= (n.*521T=) c.28T= (p.Cys10=) n.318T= c.346T= (p.Cys116=) | |
| 11 | g.68036346_68036347dup | CA2531200648 | NDUFS8 | c.466_467dup (p.Gln157AlafsTer?) c.398_399dup c.412_413dup (p.Cys138=) c.*521_*522dup (n.*521_*522dup) c.28_29dup (p.Gln11AlafsTer?) n.318_319dup c.346_347dup (p.Gln117AlafsTer?) | |
| 11 | g.68036347G>A | CA381569338 | NDUFS8 | c.467G>A (p.Cys156Tyr) c.399G>A c.413G>A (p.Cys138Tyr) c.*522G>A (n.*522G>A) c.29G>A (p.Cys10Tyr) n.319G>A c.347G>A (p.Cys116Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036347G>C | CA381569339 | NDUFS8 | c.467G>C (p.Cys156Ser) c.399G>C c.413G>C (p.Cys138Ser) c.*522G>C (n.*522G>C) c.29G>C (p.Cys10Ser) n.319G>C c.347G>C (p.Cys116Ser) | |
| 11 | g.68036347G= | CA1980451972 | NDUFS8 | c.467G= (p.Cys156=) c.399G= c.413G= (p.Cys138=) c.*522G= (n.*522G=) c.29G= (p.Cys10=) n.319G= c.347G= (p.Cys116=) | |
| 11 | g.68036347G>T | CA381569340 | NDUFS8 | c.467G>T (p.Cys156Phe) c.399G>T c.413G>T (p.Cys138Phe) c.*522G>T (n.*522G>T) c.29G>T (p.Cys10Phe) n.319G>T c.347G>T (p.Cys116Phe) | |
| 11 | g.68036348C>A | CA381569341 | NDUFS8 | c.468C>A (p.Cys156Ter) c.400C>A c.414C>A (p.Cys138Ter) c.*523C>A (n.*523C>A) c.30C>A (p.Cys10Ter) n.320C>A c.348C>A (p.Cys116Ter) | |
| 11 | g.68036348C>G | CA381569342 | NDUFS8 | c.468C>G (p.Cys156Trp) c.400C>G c.414C>G (p.Cys138Trp) c.*523C>G (n.*523C>G) c.30C>G (p.Cys10Trp) n.320C>G c.348C>G (p.Cys116Trp) | |
| 11 | g.68036348C>T | CA475442385 | NDUFS8 | c.468C>T (p.Cys156=) c.400C>T c.414C>T (p.Cys138=) c.*523C>T (n.*523C>T) c.30C>T (p.Cys10=) n.320C>T c.348C>T (p.Cys116=) | dbSNP |
| 11 | g.68036349C>A | CA381569343 | NDUFS8 | c.469C>A (p.Gln157Lys) c.401C>A c.*524C>A (n.*524C>A) c.31C>A (p.Gln11Lys) n.321C>A c.349C>A (p.Gln117Lys) | |
| 11 | g.68036349C>G | CA381569345 | NDUFS8 | c.469C>G (p.Gln157Glu) c.401C>G c.*524C>G (n.*524C>G) c.31C>G (p.Gln11Glu) n.321C>G c.349C>G (p.Gln117Glu) | dbSNP |
| 11 | g.68036349C>T | CA381569348 | NDUFS8 | c.469C>T (p.Gln157Ter) c.401C>T c.*524C>T (n.*524C>T) c.31C>T (p.Gln11Ter) n.321C>T c.349C>T (p.Gln117Ter) | |
| 11 | g.68036350A>C | CA381569349 | NDUFS8 | c.470A>C (p.Gln157Pro) c.402A>C c.*525A>C (n.*525A>C) c.32A>C (p.Gln11Pro) n.322A>C c.350A>C (p.Gln117Pro) | |
| 11 | g.68036350A>G | CA381569350 | NDUFS8 | c.470A>G (p.Gln157Arg) c.402A>G c.*525A>G (n.*525A>G) c.32A>G (p.Gln11Arg) n.322A>G c.350A>G (p.Gln117Arg) | |
| 11 | g.68036350A>T | CA381569351 | NDUFS8 | c.470A>T (p.Gln157Leu) c.402A>T c.*525A>T (n.*525A>T) c.32A>T (p.Gln11Leu) n.322A>T c.350A>T (p.Gln117Leu) | |
| 11 | g.68036351G>A | CA475442396 | NDUFS8 | c.471G>A (p.Gln157=) c.403G>A c.*526G>A (n.*526G>A) c.33G>A (p.Gln11=) n.323G>A c.351G>A (p.Gln117=) | |
| 11 | g.68036351G>C | CA381569353 | NDUFS8 | c.471G>C (p.Gln157His) c.403G>C c.*526G>C (n.*526G>C) c.33G>C (p.Gln11His) n.323G>C c.351G>C (p.Gln117His) | gnomAD v4 |
| 11 | g.68036351G>T | CA381569352 | NDUFS8 | c.471G>T (p.Gln157His) c.403G>T c.*526G>T (n.*526G>T) c.33G>T (p.Gln11His) n.323G>T c.351G>T (p.Gln117His) | |
| 11 | g.68036352G>A | CA381569355 | NDUFS8 | c.472G>A (p.Glu158Lys) c.404G>A c.*527G>A (n.*527G>A) c.34G>A (p.Glu12Lys) n.324G>A c.352G>A (p.Glu118Lys) | |
| 11 | g.68036352G>C | CA381569358 | NDUFS8 | c.472G>C (p.Glu158Gln) c.404G>C c.*527G>C (n.*527G>C) c.34G>C (p.Glu12Gln) n.324G>C c.352G>C (p.Glu118Gln) | |
| 11 | g.68036352G>T | CA381569357 | NDUFS8 | c.472G>T (p.Glu158Ter) c.404G>T c.*527G>T (n.*527G>T) c.34G>T (p.Glu12Ter) n.324G>T c.352G>T (p.Glu118Ter) | |
| 11 | g.68036353A= | CA1980451977 | NDUFS8 | c.473A= (p.Glu158=) c.405A= c.*528A= (n.*528A=) c.35A= (p.Glu12=) n.325A= c.353A= (p.Glu118=) | |
| 11 | g.68036353A>C | CA381569360 | NDUFS8 | c.473A>C (p.Glu158Ala) c.405A>C c.*528A>C (n.*528A>C) c.35A>C (p.Glu12Ala) n.325A>C c.353A>C (p.Glu118Ala) | dbSNP |
| 11 | g.68036353A>G | CA381569364 | NDUFS8 | c.473A>G (p.Glu158Gly) c.405A>G c.*528A>G (n.*528A>G) c.35A>G (p.Glu12Gly) n.325A>G c.353A>G (p.Glu118Gly) | |
| 11 | g.68036353A>T | CA381569362 | NDUFS8 | c.473A>T (p.Glu158Val) c.405A>T c.*528A>T (n.*528A>T) c.35A>T (p.Glu12Val) n.325A>T c.353A>T (p.Glu118Val) | |
| 11 | g.68036354G>A | CA475442406 | NDUFS8 | c.474G>A (p.Glu158=) c.406G>A c.*529G>A (n.*529G>A) c.36G>A (p.Glu12=) n.326G>A c.354G>A (p.Glu118=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036354G>C | CA381569365 | NDUFS8 | c.474G>C (p.Glu158Asp) c.406G>C c.*529G>C (n.*529G>C) c.36G>C (p.Glu12Asp) n.326G>C c.354G>C (p.Glu118Asp) | |
| 11 | g.68036354G= | CA1980451981 | NDUFS8 | c.474G= (p.Glu158=) c.406G= c.*529G= (n.*529G=) c.36G= (p.Glu12=) n.326G= c.354G= (p.Glu118=) | |
| 11 | g.68036354G>T | CA381569366 | NDUFS8 | c.474G>T (p.Glu158Asp) c.406G>T c.*529G>T (n.*529G>T) c.36G>T (p.Glu12Asp) n.326G>T c.354G>T (p.Glu118Asp) | |
| 11 | g.68036355G>A | CA381569368 | NDUFS8 | c.475G>A (p.Ala159Thr) c.407G>A c.*530G>A (n.*530G>A) c.37G>A (p.Ala13Thr) n.327G>A c.355G>A (p.Ala119Thr) | gnomAD v4 |
| 11 | g.68036355G>C | CA381569371 | NDUFS8 | c.475G>C (p.Ala159Pro) c.407G>C c.*530G>C (n.*530G>C) c.37G>C (p.Ala13Pro) n.327G>C c.355G>C (p.Ala119Pro) | |
| 11 | g.68036355G= | CA1980451985 | NDUFS8 | c.475G= (p.Ala159=) c.407G= c.*530G= (n.*530G=) c.37G= (p.Ala13=) n.327G= c.355G= (p.Ala119=) | |
| 11 | g.68036355G>T | CA381569369 | NDUFS8 | c.475G>T (p.Ala159Ser) c.407G>T c.*530G>T (n.*530G>T) c.37G>T (p.Ala13Ser) n.327G>T c.355G>T (p.Ala119Ser) | dbSNP |
| 11 | g.68036356C>A | CA130613 | NDUFS8 | c.476C>A (p.Ala159Asp) c.408C>A c.*531C>A (n.*531C>A) c.38C>A (p.Ala13Asp) n.328C>A c.356C>A (p.Ala119Asp) | ClinVar dbSNP |
| 11 | g.68036356C= | CA1980451988 | NDUFS8 | c.476C= (p.Ala159=) c.408C= c.*531C= (n.*531C=) c.38C= (p.Ala13=) n.328C= c.356C= (p.Ala119=) | |
| 11 | g.68036356C>G | CA381569374 | NDUFS8 | c.476C>G (p.Ala159Gly) c.408C>G c.*531C>G (n.*531C>G) c.38C>G (p.Ala13Gly) n.328C>G c.356C>G (p.Ala119Gly) | |
| 11 | g.68036356C>T | CA381569373 | NDUFS8 | c.476C>T (p.Ala159Val) c.408C>T c.*531C>T (n.*531C>T) c.38C>T (p.Ala13Val) n.328C>T c.356C>T (p.Ala119Val) | |
| 11 | g.68036357C>A | CA475442417 | NDUFS8 | c.477C>A (p.Ala159=) c.409C>A c.*532C>A (n.*532C>A) c.39C>A (p.Ala13=) n.329C>A c.357C>A (p.Ala119=) | dbSNP |
| 11 | g.68036357C= | CA1980451994 | NDUFS8 | c.477C= (p.Ala159=) c.409C= c.*532C= (n.*532C=) c.39C= (p.Ala13=) n.329C= c.357C= (p.Ala119=) | |
| 11 | g.68036357C>G | CA475442421 | NDUFS8 | c.477C>G (p.Ala159=) c.409C>G c.*532C>G (n.*532C>G) c.39C>G (p.Ala13=) n.329C>G c.357C>G (p.Ala119=) | gnomAD v3 gnomAD v4 |
| 11 | g.68036357C>T | CA475442419 | NDUFS8 | c.477C>T (p.Ala159=) c.409C>T c.*532C>T (n.*532C>T) c.39C>T (p.Ala13=) n.329C>T c.357C>T (p.Ala119=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036358T>A | CA381569376 | NDUFS8 | c.478T>A (p.Cys160Ser) c.410T>A c.*533T>A (n.*533T>A) c.40T>A (p.Cys14Ser) n.330T>A c.358T>A (p.Cys120Ser) | |
| 11 | g.68036358T>C | CA381569380 | NDUFS8 | c.478T>C (p.Cys160Arg) c.410T>C c.*533T>C (n.*533T>C) c.40T>C (p.Cys14Arg) n.330T>C c.358T>C (p.Cys120Arg) | |
| 11 | g.68036358T>G | CA381569378 | NDUFS8 | c.478T>G (p.Cys160Gly) c.410T>G c.*533T>G (n.*533T>G) c.40T>G (p.Cys14Gly) n.330T>G c.358T>G (p.Cys120Gly) | |
| 11 | g.68036359G>A | CA381569383 | NDUFS8 | c.479G>A (p.Cys160Tyr) c.411G>A c.*534G>A (n.*534G>A) c.41G>A (p.Cys14Tyr) n.331G>A c.359G>A (p.Cys120Tyr) | |
| 11 | g.68036359G>C | CA381569385 | NDUFS8 | c.479G>C (p.Cys160Ser) c.411G>C c.*534G>C (n.*534G>C) c.41G>C (p.Cys14Ser) n.331G>C c.359G>C (p.Cys120Ser) | |
| 11 | g.68036359G>T | CA381569384 | NDUFS8 | c.479G>T (p.Cys160Phe) c.411G>T c.*534G>T (n.*534G>T) c.41G>T (p.Cys14Phe) n.331G>T c.359G>T (p.Cys120Phe) | |
| 11 | g.68036360del | CA2792527944 | NDUFS8 | c.480del (p.Val162TrpfsTer?) c.412del c.*535del (n.*535del) c.42del (p.Val16TrpfsTer?) n.332del c.360del (p.Val122TrpfsTer?) | |
| 11 | g.68036360T>A | CA381569387 | NDUFS8 | c.480T>A (p.Cys160Ter) c.412T>A c.*535T>A (n.*535T>A) c.42T>A (p.Cys14Ter) n.332T>A c.360T>A (p.Cys120Ter) | |
| 11 | g.68036360T>C | CA475442433 | NDUFS8 | c.480T>C (p.Cys160=) c.412T>C c.*535T>C (n.*535T>C) c.42T>C (p.Cys14=) n.332T>C c.360T>C (p.Cys120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036360T>G | CA381569389 | NDUFS8 | c.480T>G (p.Cys160Trp) c.412T>G c.*535T>G (n.*535T>G) c.42T>G (p.Cys14Trp) n.332T>G c.360T>G (p.Cys120Trp) | dbSNP |
| 11 | g.68036360T= | CA1980451999 | NDUFS8 | c.480T= (p.Cys160=) c.412T= c.*535T= (n.*535T=) c.42T= (p.Cys14=) n.332T= c.360T= (p.Cys120=) | |
| 11 | g.68036361C>A | CA320413 | NDUFS8 | c.481C>A (p.Pro161Thr) c.413C>A c.*536C>A (n.*536C>A) c.43C>A (p.Pro15Thr) n.333C>A c.361C>A (p.Pro121Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036361C= | CA1980452001 | NDUFS8 | c.481C= (p.Pro161=) c.413C= c.*536C= (n.*536C=) c.43C= (p.Pro15=) n.333C= c.361C= (p.Pro121=) | |
| 11 | g.68036361C>G | CA381569392 | NDUFS8 | c.481C>G (p.Pro161Ala) c.413C>G c.*536C>G (n.*536C>G) c.43C>G (p.Pro15Ala) n.333C>G c.361C>G (p.Pro121Ala) | gnomAD v4 |
| 11 | g.68036361C>T | CA381569396 | NDUFS8 | c.481C>T (p.Pro161Ser) c.413C>T c.*536C>T (n.*536C>T) c.43C>T (p.Pro15Ser) n.333C>T c.361C>T (p.Pro121Ser) | dbSNP |
| 11 | g.68036361_68036362insGCGA | CA2614692192 | NDUFS8 | c.481_482insGCGA (p.Pro161ArgfsTer13) c.413_414insGCGA c.*536_*537insGCGA (n.*536_*537insGCGA) c.43_44insGCGA (p.Pro15ArgfsTer13) n.333_334insGCGA c.361_362insGCGA (p.Pro121ArgfsTer13) | gnomAD v4 |
| 11 | g.68036362C>A | CA381569398 | NDUFS8 | c.482C>A (p.Pro161His) c.414C>A c.*537C>A (n.*537C>A) c.44C>A (p.Pro15His) n.334C>A c.362C>A (p.Pro121His) | |
| 11 | g.68036362C>G | CA381569400 | NDUFS8 | c.482C>G (p.Pro161Arg) c.414C>G c.*537C>G (n.*537C>G) c.44C>G (p.Pro15Arg) n.334C>G c.362C>G (p.Pro121Arg) | |
| 11 | g.68036362C>T | CA381569402 | NDUFS8 | c.482C>T (p.Pro161Leu) c.414C>T c.*537C>T (n.*537C>T) c.44C>T (p.Pro15Leu) n.334C>T c.362C>T (p.Pro121Leu) | |
| 11 | g.68036363C>A | CA475442444 | NDUFS8 | c.483C>A (p.Pro161=) c.415C>A c.*538C>A (n.*538C>A) c.45C>A (p.Pro15=) n.335C>A c.363C>A (p.Pro121=) | |
| 11 | g.68036363C= | CA1980452004 | NDUFS8 | c.483C= (p.Pro161=) c.415C= c.*538C= (n.*538C=) c.45C= (p.Pro15=) n.335C= c.363C= (p.Pro121=) | |
| 11 | g.68036363C>G | CA475442446 | NDUFS8 | c.483C>G (p.Pro161=) c.415C>G c.*538C>G (n.*538C>G) c.45C>G (p.Pro15=) n.335C>G c.363C>G (p.Pro121=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036363C>T | CA6146537 | NDUFS8 | c.483C>T (p.Pro161=) c.415C>T c.*538C>T (n.*538C>T) c.45C>T (p.Pro15=) n.335C>T c.363C>T (p.Pro121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68036364G>A | CA381569408 | NDUFS8 | c.484G>A (p.Val162Met) c.416G>A c.*539G>A (n.*539G>A) c.46G>A (p.Val16Met) n.336G>A c.364G>A (p.Val122Met) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68036364G>C | CA381569406 | NDUFS8 | c.484G>C (p.Val162Leu) c.416G>C c.*539G>C (n.*539G>C) c.46G>C (p.Val16Leu) n.336G>C c.364G>C (p.Val122Leu) | |
| 11 | g.68036364G= | CA1980452010 | NDUFS8 | c.484G= (p.Val162=) c.416G= c.*539G= (n.*539G=) c.46G= (p.Val16=) n.336G= c.364G= (p.Val122=) | |
| 11 | g.68036364G>T | CA381569404 | NDUFS8 | c.484G>T (p.Val162Leu) c.416G>T c.*539G>T (n.*539G>T) c.46G>T (p.Val16Leu) n.336G>T c.364G>T (p.Val122Leu) | |
| 11 | g.68036364_68036365insACCGA | CA2792527945 | NDUFS8 | c.484_485insACCGA (p.Val162AspfsTer?) c.416_417insACCGA c.*539_*540insACCGA (n.*539_*540insACCGA) c.46_47insACCGA (p.Val16AspfsTer?) n.336_337insACCGA c.364_365insACCGA (p.Val122AspfsTer?) | |
| 11 | g.68036365T>A | CA381569410 | NDUFS8 | c.485T>A (p.Val162Glu) c.417T>A c.*540T>A (n.*540T>A) c.47T>A (p.Val16Glu) n.337T>A c.365T>A (p.Val122Glu) | |
| 11 | g.68036365T>C | CA381569412 | NDUFS8 | c.485T>C (p.Val162Ala) c.417T>C c.*540T>C (n.*540T>C) c.47T>C (p.Val16Ala) n.337T>C c.365T>C (p.Val122Ala) | |
| 11 | g.68036365T>G | CA381569414 | NDUFS8 | c.485T>G (p.Val162Gly) c.417T>G c.*540T>G (n.*540T>G) c.47T>G (p.Val16Gly) n.337T>G c.365T>G (p.Val122Gly) | |
| 11 | g.68036366G>A | CA475442456 | NDUFS8 | c.486G>A (p.Val162=) c.418G>A c.*541G>A (n.*541G>A) c.48G>A (p.Val16=) n.338G>A c.366G>A (p.Val122=) | gnomAD v3 gnomAD v4 |
| 11 | g.68036366G>C | CA475442458 | NDUFS8 | c.486G>C (p.Val162=) c.418G>C c.*541G>C (n.*541G>C) c.48G>C (p.Val16=) n.338G>C c.366G>C (p.Val122=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036366G= | CA1980452014 | NDUFS8 | c.486G= (p.Val162=) c.418G= c.*541G= (n.*541G=) c.48G= (p.Val16=) n.338G= c.366G= (p.Val122=) | |
| 11 | g.68036366G>T | CA475442460 | NDUFS8 | c.486G>T (p.Val162=) c.418G>T c.*541G>T (n.*541G>T) c.48G>T (p.Val16=) n.338G>T c.366G>T (p.Val122=) | |
| 11 | g.68036366_68036367insC | CA2792527946 | NDUFS8 | c.486_487insC (p.Asp163ArgfsTer10) c.418_419insC c.*541_*542insC (n.*541_*542insC) c.48_49insC (p.Asp17ArgfsTer10) n.338_339insC c.366_367insC (p.Asp123ArgfsTer10) | |
| 11 | g.68036367G>A | CA381569416 | NDUFS8 | c.487G>A (p.Asp163Asn) c.419G>A c.*542G>A (n.*542G>A) c.49G>A (p.Asp17Asn) n.339G>A c.367G>A (p.Asp123Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036367G>C | CA381569417 | NDUFS8 | c.487G>C (p.Asp163His) c.419G>C c.*542G>C (n.*542G>C) c.49G>C (p.Asp17His) n.339G>C c.367G>C (p.Asp123His) | gnomAD v4 |
| 11 | g.68036367G= | CA1980452019 | NDUFS8 | c.487G= (p.Asp163=) c.419G= c.*542G= (n.*542G=) c.49G= (p.Asp17=) n.339G= c.367G= (p.Asp123=) | |
| 11 | g.68036367G>T | CA381569419 | NDUFS8 | c.487G>T (p.Asp163Tyr) c.419G>T c.*542G>T (n.*542G>T) c.49G>T (p.Asp17Tyr) n.339G>T c.367G>T (p.Asp123Tyr) | |
| 11 | g.68036368A>C | CA381569421 | NDUFS8 | c.488A>C (p.Asp163Ala) c.420A>C c.*543A>C (n.*543A>C) c.50A>C (p.Asp17Ala) n.340A>C c.368A>C (p.Asp123Ala) | |
| 11 | g.68036368A>G | CA381569423 | NDUFS8 | c.488A>G (p.Asp163Gly) c.420A>G c.*543A>G (n.*543A>G) c.50A>G (p.Asp17Gly) n.340A>G c.368A>G (p.Asp123Gly) | |
| 11 | g.68036368A>T | CA381569425 | NDUFS8 | c.488A>T (p.Asp163Val) c.420A>T c.*543A>T (n.*543A>T) c.50A>T (p.Asp17Val) n.340A>T c.368A>T (p.Asp123Val) | |
| 11 | g.68036369T>A | CA381569427 | NDUFS8 | c.489T>A (p.Asp163Glu) c.421T>A c.*544T>A (n.*544T>A) c.51T>A (p.Asp17Glu) n.341T>A c.369T>A (p.Asp123Glu) | |
| 11 | g.68036369T>C | CA475442472 | NDUFS8 | c.489T>C (p.Asp163=) c.421T>C c.*544T>C (n.*544T>C) c.51T>C (p.Asp17=) n.341T>C c.369T>C (p.Asp123=) | dbSNP COSMIC |
| 11 | g.68036369T>G | CA6146538 | NDUFS8 | c.489T>G (p.Asp163Glu) c.421T>G c.*544T>G (n.*544T>G) c.51T>G (p.Asp17Glu) n.341T>G c.369T>G (p.Asp123Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036369T= | CA1980452022 | NDUFS8 | c.489T= (p.Asp163=) c.421T= c.*544T= (n.*544T=) c.51T= (p.Asp17=) n.341T= c.369T= (p.Asp123=) | |
| 11 | g.68036369dup | CA2792527947 | NDUFS8 | c.489dup (p.Ala164CysfsTer9) c.421dup c.*544dup (n.*544dup) c.51dup (p.Ala18CysfsTer9) n.341dup c.369dup (p.Ala124CysfsTer9) | |
| 11 | g.68036370G>A | CA381569432 | NDUFS8 | c.490G>A (p.Ala164Thr) c.422G>A c.*545G>A (n.*545G>A) c.52G>A (p.Ala18Thr) n.342G>A c.370G>A (p.Ala124Thr) | |
| 11 | g.68036370G>C | CA381569433 | NDUFS8 | c.490G>C (p.Ala164Pro) c.422G>C c.*545G>C (n.*545G>C) c.52G>C (p.Ala18Pro) n.342G>C c.370G>C (p.Ala124Pro) | |
| 11 | g.68036370G>T | CA381569430 | NDUFS8 | c.490G>T (p.Ala164Ser) c.422G>T c.*545G>T (n.*545G>T) c.52G>T (p.Ala18Ser) n.342G>T c.370G>T (p.Ala124Ser) | |
| 11 | g.68036370_68036371insTGGAAAC | CA2792527948 | NDUFS8 | c.490_491insTGGAAAC (p.Ala164ValfsTer11) c.422_423insTGGAAAC c.*545_*546insTGGAAAC (n.*545_*546insTGGAAAC) c.52_53insTGGAAAC (p.Ala18ValfsTer11) n.342_343insTGGAAAC c.370_371insTGGAAAC (p.Ala124ValfsTer11) | |
| 11 | g.68036371C>A | CA381569437 | NDUFS8 | c.491C>A (p.Ala164Asp) c.423C>A c.*546C>A (n.*546C>A) c.53C>A (p.Ala18Asp) n.343C>A c.371C>A (p.Ala124Asp) | |
| 11 | g.68036371C>G | CA381569439 | NDUFS8 | c.491C>G (p.Ala164Gly) c.423C>G c.*546C>G (n.*546C>G) c.53C>G (p.Ala18Gly) n.343C>G c.371C>G (p.Ala124Gly) | |
| 11 | g.68036371C>T | CA381569441 | NDUFS8 | c.491C>T (p.Ala164Val) c.423C>T c.*546C>T (n.*546C>T) c.53C>T (p.Ala18Val) n.343C>T c.371C>T (p.Ala124Val) | gnomAD v4 |
| 11 | g.68036372C>A | CA475442483 | NDUFS8 | c.492C>A (p.Ala164=) c.424C>A c.*547C>A (n.*547C>A) c.54C>A (p.Ala18=) n.344C>A c.372C>A (p.Ala124=) | |
| 11 | g.68036372C= | CA1980452023 | NDUFS8 | c.492C= (p.Ala164=) c.424C= c.*547C= (n.*547C=) c.54C= (p.Ala18=) n.344C= c.372C= (p.Ala124=) | |
| 11 | g.68036372C>G | CA475442486 | NDUFS8 | c.492C>G (p.Ala164=) c.424C>G c.*547C>G (n.*547C>G) c.54C>G (p.Ala18=) n.344C>G c.372C>G (p.Ala124=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036372C>T | CA224194945 | NDUFS8 | c.492C>T (p.Ala164=) c.424C>T c.*547C>T (n.*547C>T) c.54C>T (p.Ala18=) n.344C>T c.372C>T (p.Ala124=) | dbSNP COSMIC |
| 11 | g.68036373A= | CA1980452027 | NDUFS8 | c.493A= (p.Ile165=) c.425A= c.*548A= (n.*548A=) c.55A= (p.Ile19=) n.345A= c.373A= (p.Ile125=) | |
| 11 | g.68036373A>C | CA381569443 | NDUFS8 | c.493A>C (p.Ile165Leu) c.425A>C c.*548A>C (n.*548A>C) c.55A>C (p.Ile19Leu) n.345A>C c.373A>C (p.Ile125Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036373A>G | CA381569445 | NDUFS8 | c.493A>G (p.Ile165Val) c.425A>G c.*548A>G (n.*548A>G) c.55A>G (p.Ile19Val) n.345A>G c.373A>G (p.Ile125Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036373A>T | CA381569447 | NDUFS8 | c.493A>T (p.Ile165Phe) c.425A>T c.*548A>T (n.*548A>T) c.55A>T (p.Ile19Phe) n.345A>T c.373A>T (p.Ile125Phe) | |
| 11 | g.68036374T>A | CA381569448 | NDUFS8 | c.494T>A (p.Ile165Asn) c.426T>A c.*549T>A (n.*549T>A) c.56T>A (p.Ile19Asn) n.346T>A c.374T>A (p.Ile125Asn) | |
| 11 | g.68036374T>C | CA381569450 | NDUFS8 | c.494T>C (p.Ile165Thr) c.426T>C c.*549T>C (n.*549T>C) c.56T>C (p.Ile19Thr) n.346T>C c.374T>C (p.Ile125Thr) | |
| 11 | g.68036374T>G | CA381569452 | NDUFS8 | c.494T>G (p.Ile165Ser) c.426T>G c.*549T>G (n.*549T>G) c.56T>G (p.Ile19Ser) n.346T>G c.374T>G (p.Ile125Ser) | |
| 11 | g.68036375C>A | CA475442500 | NDUFS8 | c.495C>A (p.Ile165=) c.427C>A c.*550C>A (n.*550C>A) c.57C>A (p.Ile19=) n.347C>A c.375C>A (p.Ile125=) | |
| 11 | g.68036375C= | CA1980452030 | NDUFS8 | c.495C= (p.Ile165=) c.427C= c.*550C= (n.*550C=) c.57C= (p.Ile19=) n.347C= c.375C= (p.Ile125=) | |
| 11 | g.68036375C>G | CA381569453 | NDUFS8 | c.495C>G (p.Ile165Met) c.427C>G c.*550C>G (n.*550C>G) c.57C>G (p.Ile19Met) n.347C>G c.375C>G (p.Ile125Met) | |
| 11 | g.68036375C>T | CA6146539 | NDUFS8 | c.495C>T (p.Ile165=) c.427C>T c.*550C>T (n.*550C>T) c.57C>T (p.Ile19=) n.347C>T c.375C>T (p.Ile125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036376G>A | CA6146540 | NDUFS8 | c.496G>A (p.Val166Ile) c.428G>A c.*551G>A (n.*551G>A) c.58G>A (p.Val20Ile) n.348G>A c.376G>A (p.Val126Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036376G>C | CA381569456 | NDUFS8 | c.496G>C (p.Val166Leu) c.428G>C c.*551G>C (n.*551G>C) c.58G>C (p.Val20Leu) n.348G>C c.376G>C (p.Val126Leu) | |
| 11 | g.68036376G= | CA1980452034 | NDUFS8 | c.496G= (p.Val166=) c.428G= c.*551G= (n.*551G=) c.58G= (p.Val20=) n.348G= c.376G= (p.Val126=) | |
| 11 | g.68036376G>T | CA381569457 | NDUFS8 | c.496G>T (p.Val166Phe) c.428G>T c.*551G>T (n.*551G>T) c.58G>T (p.Val20Phe) n.348G>T c.376G>T (p.Val126Phe) | |
| 11 | g.68036377T>A | CA381569458 | NDUFS8 | c.497T>A (p.Val166Asp) c.429T>A c.*552T>A (n.*552T>A) c.59T>A (p.Val20Asp) n.349T>A c.377T>A (p.Val126Asp) | |
| 11 | g.68036377T>C | CA381569460 | NDUFS8 | c.497T>C (p.Val166Ala) c.429T>C c.*552T>C (n.*552T>C) c.59T>C (p.Val20Ala) n.349T>C c.377T>C (p.Val126Ala) | |
| 11 | g.68036377T>G | CA381569462 | NDUFS8 | c.497T>G (p.Val166Gly) c.429T>G c.*552T>G (n.*552T>G) c.59T>G (p.Val20Gly) n.349T>G c.377T>G (p.Val126Gly) | |
| 11 | g.68036378C>A | CA475442508 | NDUFS8 | c.498C>A (p.Val166=) c.430C>A c.*553C>A (n.*553C>A) c.60C>A (p.Val20=) n.350C>A c.378C>A (p.Val126=) | |
| 11 | g.68036378C= | CA1980452035 | NDUFS8 | c.498C= (p.Val166=) c.430C= c.*553C= (n.*553C=) c.60C= (p.Val20=) n.350C= c.378C= (p.Val126=) | |
| 11 | g.68036378C>G | CA475442511 | NDUFS8 | c.498C>G (p.Val166=) c.430C>G c.*553C>G (n.*553C>G) c.60C>G (p.Val20=) n.350C>G c.378C>G (p.Val126=) | |
| 11 | g.68036378C>T | CA6146541 | NDUFS8 | c.498C>T (p.Val166=) c.430C>T c.*553C>T (n.*553C>T) c.60C>T (p.Val20=) n.350C>T c.378C>T (p.Val126=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036379G>A | CA381569465 | NDUFS8 | c.499G>A (p.Glu167Lys) c.431G>A c.*554G>A (n.*554G>A) c.61G>A (p.Glu21Lys) n.351G>A c.379G>A (p.Glu127Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036379G>C | CA381569467 | NDUFS8 | c.499G>C (p.Glu167Gln) c.431G>C c.*554G>C (n.*554G>C) c.61G>C (p.Glu21Gln) n.351G>C c.379G>C (p.Glu127Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036379G= | CA1980452037 | NDUFS8 | c.499G= (p.Glu167=) c.431G= c.*554G= (n.*554G=) c.61G= (p.Glu21=) n.351G= c.379G= (p.Glu127=) | |
| 11 | g.68036379G>T | CA381569469 | NDUFS8 | c.499G>T (p.Glu167Ter) c.431G>T c.*554G>T (n.*554G>T) c.61G>T (p.Glu21Ter) n.351G>T c.379G>T (p.Glu127Ter) | gnomAD v4 |
| 11 | g.68036380A>C | CA381569473 | NDUFS8 | c.500A>C (p.Glu167Ala) c.432A>C c.*555A>C (n.*555A>C) c.62A>C (p.Glu21Ala) n.352A>C c.380A>C (p.Glu127Ala) | |
| 11 | g.68036380A>G | CA381569474 | NDUFS8 | c.500A>G (p.Glu167Gly) c.432A>G c.*555A>G (n.*555A>G) c.62A>G (p.Glu21Gly) n.352A>G c.380A>G (p.Glu127Gly) | |
| 11 | g.68036380A>T | CA381569476 | NDUFS8 | c.500A>T (p.Glu167Val) c.432A>T c.*555A>T (n.*555A>T) c.62A>T (p.Glu21Val) n.352A>T c.380A>T (p.Glu127Val) | |
| 11 | g.68036383_68036462del | CA2792527949 | NDUFS8 | c.501+2_502del c.433+2_434del c.*556+2_*557del c.63+2_64del n.353+2_354del c.381+2_382del | |
| 11 | g.68036381G>A | CA475442521 | NDUFS8 | c.501G>A (p.Glu167=) c.433G>A c.*556G>A (n.*556G>A) c.63G>A (p.Glu21=) n.353G>A c.381G>A (p.Glu127=) | |
| 11 | g.68036381G>C | CA381569478 | NDUFS8 | c.501G>C (p.Glu167Asp) c.433G>C c.*556G>C (n.*556G>C) c.63G>C (p.Glu21Asp) n.353G>C c.381G>C (p.Glu127Asp) | |
| 11 | g.68036381G>T | CA381569479 | NDUFS8 | c.501G>T (p.Glu167Asp) c.433G>T c.*556G>T (n.*556G>T) c.63G>T (p.Glu21Asp) n.353G>T c.381G>T (p.Glu127Asp) | |
| 11 | g.68036382G>A | CA381569485 | NDUFS8 | c.501+1G>A (n.501+1G>A) c.433+1G>A c.*556+1G>A (n.*556+1G>A) c.63+1G>A (n.63+1G>A) n.353+1G>A c.381+1G>A (n.381+1G>A) | |
| 11 | g.68036382G>C | CA381569483 | NDUFS8 | c.501+1G>C (n.501+1G>C) c.433+1G>C c.*556+1G>C (n.*556+1G>C) c.63+1G>C (n.63+1G>C) n.353+1G>C c.381+1G>C (n.381+1G>C) | |
| 11 | g.68036382G>T | CA381569481 | NDUFS8 | c.501+1G>T (n.501+1G>T) c.433+1G>T c.*556+1G>T (n.*556+1G>T) c.63+1G>T (n.63+1G>T) n.353+1G>T c.381+1G>T (n.381+1G>T) | COSMIC |
| 11 | g.68036383C>A | CA381569487 | NDUFS8 | c.501+2C>A (n.501+2C>A) c.433+2C>A c.*556+2C>A (n.*556+2C>A) c.63+2C>A (n.63+2C>A) n.353+2C>A c.381+2C>A (n.381+2C>A) | |
| 11 | g.68036383C>G | CA381569494 | NDUFS8 | c.501+2C>G (n.501+2C>G) c.433+2C>G c.*556+2C>G (n.*556+2C>G) c.63+2C>G (n.63+2C>G) n.353+2C>G c.381+2C>G (n.381+2C>G) | |
| 11 | g.68036383C>T | CA381569488 | NDUFS8 | c.501+2C>T (n.501+2C>T) c.433+2C>T c.*556+2C>T (n.*556+2C>T) c.63+2C>T (n.63+2C>T) n.353+2C>T c.381+2C>T (n.381+2C>T) | |
| 11 | g.68036383_68036385del | CA2792527950 | NDUFS8 | c.501+2_501+4del (n.501+2_501+4del) c.433+2_433+4del c.*556+2_*556+4del (n.*556+2_*556+4del) c.63+2_63+4del (n.63+2_63+4del) n.353+2_353+4del c.381+2_381+4del (n.381+2_381+4del) | |
| 11 | g.68036385C= | CA1980452041 | NDUFS8 | c.501+4C= (n.501+4C=) c.433+4C= c.*556+4C= (n.*556+4C=) c.63+4C= (n.63+4C=) n.353+4C= c.381+4C= (n.381+4C=) | |
| 11 | g.68036385C>T | CA6146542 | NDUFS8 | c.501+4C>T (n.501+4C>T) c.433+4C>T c.*556+4C>T (n.*556+4C>T) c.63+4C>T (n.63+4C>T) n.353+4C>T c.381+4C>T (n.381+4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036386G>A | CA6146543 | NDUFS8 | c.501+5G>A (n.501+5G>A) c.433+5G>A c.*556+5G>A (n.*556+5G>A) c.63+5G>A (n.63+5G>A) n.353+5G>A c.381+5G>A (n.381+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036386G>C | CA2614692288 | NDUFS8 | c.501+5G>C (n.501+5G>C) c.433+5G>C c.*556+5G>C (n.*556+5G>C) c.63+5G>C (n.63+5G>C) n.353+5G>C c.381+5G>C (n.381+5G>C) | gnomAD v4 |
| 11 | g.68036386G= | CA1980452042 | NDUFS8 | c.501+5G= (n.501+5G=) c.433+5G= c.*556+5G= (n.*556+5G=) c.63+5G= (n.63+5G=) n.353+5G= c.381+5G= (n.381+5G=) | |
| 11 | g.68036386G>T | CA600238517 | NDUFS8 | c.501+5G>T (n.501+5G>T) c.433+5G>T c.*556+5G>T (n.*556+5G>T) c.63+5G>T (n.63+5G>T) n.353+5G>T c.381+5G>T (n.381+5G>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68036388G>A | CA6146544 | NDUFS8 | c.501+7G>A (n.501+7G>A) c.433+7G>A c.*556+7G>A (n.*556+7G>A) c.63+7G>A (n.63+7G>A) n.353+7G>A c.381+7G>A (n.381+7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036388G= | CA1980452048 | NDUFS8 | c.501+7G= (n.501+7G=) c.433+7G= c.*556+7G= (n.*556+7G=) c.63+7G= (n.63+7G=) n.353+7G= c.381+7G= (n.381+7G=) | |
| 11 | g.68036388_68036394del | CA2792527951 | NDUFS8 | c.501+7_501+13del (n.501+7_501+13del) c.433+7_433+13del c.*556+7_*556+13del (n.*556+7_*556+13del) c.63+7_63+13del (n.63+7_63+13del) n.353+7_353+13del c.381+7_381+13del (n.381+7_381+13del) | |
| 11 | g.68036388_68036412delinsGAGGCCCCCGGGTGGGAGGGGGCCT | CA1980452046 | NDUFS8 | c.501+7_501+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT (n.501+7_501+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT) c.433+7_433+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT c.*556+7_*556+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT (n.*556+7_*556+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT) c.63+7_63+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT (n.63+7_63+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT) n.353+7_353+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT c.381+7_381+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT (n.381+7_381+31delinsGAGGCCCCCGGGTGGGAGGGGGCCT) | |
| 11 | g.68036389A= | CA1980452050 | NDUFS8 | c.501+8A= (n.501+8A=) c.433+8A= c.*556+8A= (n.*556+8A=) c.63+8A= (n.63+8A=) n.353+8A= c.381+8A= (n.381+8A=) | |
| 11 | g.68036389A>T | CA1980452052 | NDUFS8 | c.501+8A>T (n.501+8A>T) c.433+8A>T c.*556+8A>T (n.*556+8A>T) c.63+8A>T (n.63+8A>T) n.353+8A>T c.381+8A>T (n.381+8A>T) | dbSNP gnomAD v4 |
| 11 | g.68036389_68036412del | CA600238518 | NDUFS8 | c.501+8_501+31del (n.501+8_501+31del) c.433+8_433+31del c.*556+8_*556+31del (n.*556+8_*556+31del) c.63+8_63+31del (n.63+8_63+31del) n.353+8_353+31del c.381+8_381+31del (n.381+8_381+31del) | dbSNP gnomAD v2 |
| 11 | g.68036390G>A | CA2516135083 | NDUFS8 | c.501+9G>A (n.501+9G>A) c.433+9G>A c.*556+9G>A (n.*556+9G>A) c.63+9G>A (n.63+9G>A) n.353+9G>A c.381+9G>A (n.381+9G>A) | gnomAD v4 |
| 11 | g.68036391_68036392delinsGC | CA1980452053 | NDUFS8 | c.501+10_501+11delinsGC (n.501+10_501+11delinsGC) c.433+10_433+11delinsGC c.*556+10_*556+11delinsGC (n.*556+10_*556+11delinsGC) c.63+10_63+11delinsGC (n.63+10_63+11delinsGC) n.353+10_353+11delinsGC c.381+10_381+11delinsGC (n.381+10_381+11delinsGC) | |
| 11 | g.68036392C>T | CA2614692326 | NDUFS8 | c.501+11C>T (n.501+11C>T) c.433+11C>T c.*556+11C>T (n.*556+11C>T) c.63+11C>T (n.63+11C>T) n.353+11C>T c.381+11C>T (n.381+11C>T) | gnomAD v4 |
| 11 | g.68036396del | CA600238519 | NDUFS8 | c.501+15del (n.501+15del) c.433+15del c.*556+15del (n.*556+15del) c.63+15del (n.63+15del) n.353+15del c.381+15del (n.381+15del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036393C= | CA1980452056 | NDUFS8 | c.501+12C= (n.501+12C=) c.433+12C= c.*556+12C= (n.*556+12C=) c.63+12C= (n.63+12C=) n.353+12C= c.381+12C= (n.381+12C=) | |
| 11 | g.68036393C>G | CA10631392 | NDUFS8 | c.501+12C>G (n.501+12C>G) c.433+12C>G c.*556+12C>G (n.*556+12C>G) c.63+12C>G (n.63+12C>G) n.353+12C>G c.381+12C>G (n.381+12C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036393_68036394insG | CA918904578 | NDUFS8 | c.501+12_501+13insG (n.501+12_501+13insG) c.433+12_433+13insG c.*556+12_*556+13insG (n.*556+12_*556+13insG) c.63+12_63+13insG (n.63+12_63+13insG) n.353+12_353+13insG c.381+12_381+13insG (n.381+12_381+13insG) | dbSNP |
| 11 | g.68036394C= | CA1980452063 | NDUFS8 | c.501+13C= (n.501+13C=) c.433+13C= c.*556+13C= (n.*556+13C=) c.63+13C= (n.63+13C=) n.353+13C= c.381+13C= (n.381+13C=) | |
| 11 | g.68036394C>T | CA6146545 | NDUFS8 | c.501+13C>T (n.501+13C>T) c.433+13C>T c.*556+13C>T (n.*556+13C>T) c.63+13C>T (n.63+13C>T) n.353+13C>T c.381+13C>T (n.381+13C>T) | dbSNP ExAC gnomAD v2 |
| 11 | g.68036395C>G | CA2574899192 | NDUFS8 | c.501+14C>G (n.501+14C>G) c.433+14C>G c.*556+14C>G (n.*556+14C>G) c.63+14C>G (n.63+14C>G) n.353+14C>G c.381+14C>G (n.381+14C>G) | |
| 11 | g.68036396C= | CA1980452065 | NDUFS8 | c.501+15C= (n.501+15C=) c.433+15C= c.*556+15C= (n.*556+15C=) c.63+15C= (n.63+15C=) n.353+15C= c.381+15C= (n.381+15C=) | |
| 11 | g.68036396C>G | CA2614692341 | NDUFS8 | c.501+15C>G (n.501+15C>G) c.433+15C>G c.*556+15C>G (n.*556+15C>G) c.63+15C>G (n.63+15C>G) n.353+15C>G c.381+15C>G (n.381+15C>G) | gnomAD v4 |
| 11 | g.68036396C>T | CA6146546 | NDUFS8 | c.501+15C>T (n.501+15C>T) c.433+15C>T c.*556+15C>T (n.*556+15C>T) c.63+15C>T (n.63+15C>T) n.353+15C>T c.381+15C>T (n.381+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036397G>A | CA6146547 | NDUFS8 | c.501+16G>A (n.501+16G>A) c.433+16G>A c.*556+16G>A (n.*556+16G>A) c.63+16G>A (n.63+16G>A) n.353+16G>A c.381+16G>A (n.381+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036397G= | CA1980452068 | NDUFS8 | c.501+16G= (n.501+16G=) c.433+16G= c.*556+16G= (n.*556+16G=) c.63+16G= (n.63+16G=) n.353+16G= c.381+16G= (n.381+16G=) | |
| 11 | g.68036397G>T | CA600238520 | NDUFS8 | c.501+16G>T (n.501+16G>T) c.433+16G>T c.*556+16G>T (n.*556+16G>T) c.63+16G>T (n.63+16G>T) n.353+16G>T c.381+16G>T (n.381+16G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036398G>A | CA939090884 | NDUFS8 | c.501+17G>A (n.501+17G>A) c.433+17G>A c.*556+17G>A (n.*556+17G>A) c.63+17G>A (n.63+17G>A) n.353+17G>A c.381+17G>A (n.381+17G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036398G>C | CA2574899193 | NDUFS8 | c.501+17G>C (n.501+17G>C) c.433+17G>C c.*556+17G>C (n.*556+17G>C) c.63+17G>C (n.63+17G>C) n.353+17G>C c.381+17G>C (n.381+17G>C) | gnomAD v4 |
| 11 | g.68036398G= | CA1980452070 | NDUFS8 | c.501+17G= (n.501+17G=) c.433+17G= c.*556+17G= (n.*556+17G=) c.63+17G= (n.63+17G=) n.353+17G= c.381+17G= (n.381+17G=) | |
| 11 | g.68036398G>T | CA2614692368 | NDUFS8 | c.501+17G>T (n.501+17G>T) c.433+17G>T c.*556+17G>T (n.*556+17G>T) c.63+17G>T (n.63+17G>T) n.353+17G>T c.381+17G>T (n.381+17G>T) | gnomAD v4 |
| 11 | g.68036398_68036467del | CA2792527952 | NDUFS8 | c.501+17_507del c.433+17_439del c.*556+17_*562del c.63+17_69del n.353+17_359del c.381+17_387del | |
| 11 | g.68036400T>C | CA600238521 | NDUFS8 | c.501+19T>C (n.501+19T>C) c.433+19T>C c.*556+19T>C (n.*556+19T>C) c.63+19T>C (n.63+19T>C) n.353+19T>C c.381+19T>C (n.381+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036400T>G | CA1980452074 | NDUFS8 | c.501+19T>G (n.501+19T>G) c.433+19T>G c.*556+19T>G (n.*556+19T>G) c.63+19T>G (n.63+19T>G) n.353+19T>G c.381+19T>G (n.381+19T>G) | dbSNP gnomAD v4 |
| 11 | g.68036400T= | CA1980452072 | NDUFS8 | c.501+19T= (n.501+19T=) c.433+19T= c.*556+19T= (n.*556+19T=) c.63+19T= (n.63+19T=) n.353+19T= c.381+19T= (n.381+19T=) | |
| 11 | g.68036402G>A | CA2614692383 | NDUFS8 | c.501+21G>A (n.501+21G>A) c.433+21G>A c.*556+21G>A (n.*556+21G>A) c.63+21G>A (n.63+21G>A) n.353+21G>A c.381+21G>A (n.381+21G>A) | gnomAD v4 |
| 11 | g.68036403G>A | CA6146548 | NDUFS8 | c.501+22G>A (n.501+22G>A) c.433+22G>A c.*556+22G>A (n.*556+22G>A) c.63+22G>A (n.63+22G>A) n.353+22G>A c.381+22G>A (n.381+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036403G= | CA1980452076 | NDUFS8 | c.501+22G= (n.501+22G=) c.433+22G= c.*556+22G= (n.*556+22G=) c.63+22G= (n.63+22G=) n.353+22G= c.381+22G= (n.381+22G=) | |
| 11 | g.68036409dup | CA2792527953 | NDUFS8 | c.501+28dup (n.501+28dup) c.433+28dup c.*556+28dup (n.*556+28dup) c.63+28dup (n.63+28dup) n.353+28dup c.381+28dup (n.381+28dup) |