WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68036506_68036507del | CA381569782 | NDUFS8 | c.546_547del (p.Tyr183GlnfsTer23) c.478_479del c.546_547del (p.Tyr183GlnfsTer?) c.*601_*602del (n.*601_*602del) c.108_109del (p.Tyr37GlnfsTer23) n.398_399del c.426_427del (p.Tyr143GlnfsTer23) | |
| 11 | g.68036507T>A | CA381569787 | NDUFS8 | c.547T>A (p.Tyr183Asn) c.479T>A c.*602T>A (n.*602T>A) c.109T>A (p.Tyr37Asn) n.399T>A c.427T>A (p.Tyr143Asn) | |
| 11 | g.68036507T>C | CA381569789 | NDUFS8 | c.547T>C (p.Tyr183His) c.479T>C c.*602T>C (n.*602T>C) c.109T>C (p.Tyr37His) n.399T>C c.427T>C (p.Tyr143His) | |
| 11 | g.68036507T>G | CA381569791 | NDUFS8 | c.547T>G (p.Tyr183Asp) c.479T>G c.*602T>G (n.*602T>G) c.109T>G (p.Tyr37Asp) n.399T>G c.427T>G (p.Tyr143Asp) | |
| 11 | g.68036507_68036510delinsTACA | CA1980452351 | NDUFS8 | c.547_550delinsTACA (p.Tyr183=) c.479_482delinsTACA c.*602_*605delinsTACA (n.*602_*605delinsTACA) c.109_112delinsTACA (p.Tyr37=) n.399_402delinsTACA c.427_430delinsTACA (p.Tyr143=) | |
| 11 | g.68036508A>C | CA381569802 | NDUFS8 | c.548A>C (p.Tyr183Ser) c.480A>C c.*603A>C (n.*603A>C) c.110A>C (p.Tyr37Ser) n.400A>C c.428A>C (p.Tyr143Ser) | |
| 11 | g.68036508A>G | CA381569794 | NDUFS8 | c.548A>G (p.Tyr183Cys) c.480A>G c.*603A>G (n.*603A>G) c.110A>G (p.Tyr37Cys) n.400A>G c.428A>G (p.Tyr143Cys) | dbSNP gnomAD v4 |
| 11 | g.68036508A>T | CA381569798 | NDUFS8 | c.548A>T (p.Tyr183Phe) c.480A>T c.*603A>T (n.*603A>T) c.110A>T (p.Tyr37Phe) n.400A>T c.428A>T (p.Tyr143Phe) | |
| 11 | g.68036512_68036514del | CA600238543 | NDUFS8 | c.552_554del (p.Asn184del) c.484_486del c.*607_*609del (n.*607_*609del) c.114_116del (p.Asn38del) n.404_406del c.432_434del (p.Asn144del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036509C>A | CA381569803 | NDUFS8 | c.549C>A (p.Tyr183Ter) c.481C>A c.*604C>A (n.*604C>A) c.111C>A (p.Tyr37Ter) n.401C>A c.429C>A (p.Tyr143Ter) | |
| 11 | g.68036509C= | CA1980452357 | NDUFS8 | c.549C= (p.Tyr183=) c.481C= c.*604C= (n.*604C=) c.111C= (p.Tyr37=) n.401C= c.429C= (p.Tyr143=) | |
| 11 | g.68036509C>G | CA381569806 | NDUFS8 | c.549C>G (p.Tyr183Ter) c.481C>G c.*604C>G (n.*604C>G) c.111C>G (p.Tyr37Ter) n.401C>G c.429C>G (p.Tyr143Ter) | |
| 11 | g.68036509C>T | CA475442819 | NDUFS8 | c.549C>T (p.Tyr183=) c.481C>T c.*604C>T (n.*604C>T) c.111C>T (p.Tyr37=) n.401C>T c.429C>T (p.Tyr143=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036510A= | CA1980452360 | NDUFS8 | c.550A= (p.Asn184=) c.482A= c.*605A= (n.*605A=) c.112A= (p.Asn38=) n.402A= c.430A= (p.Asn144=) | |
| 11 | g.68036510A>C | CA381569811 | NDUFS8 | c.550A>C (p.Asn184His) c.482A>C c.*605A>C (n.*605A>C) c.112A>C (p.Asn38His) n.402A>C c.430A>C (p.Asn144His) | |
| 11 | g.68036510A>G | CA381569814 | NDUFS8 | c.550A>G (p.Asn184Asp) c.482A>G c.*605A>G (n.*605A>G) c.112A>G (p.Asn38Asp) n.402A>G c.430A>G (p.Asn144Asp) | dbSNP |
| 11 | g.68036510A>T | CA381569816 | NDUFS8 | c.550A>T (p.Asn184Tyr) c.482A>T c.*605A>T (n.*605A>T) c.112A>T (p.Asn38Tyr) n.402A>T c.430A>T (p.Asn144Tyr) | |
| 11 | g.68036511A= | CA1980452365 | NDUFS8 | c.551A= (p.Asn184=) c.483A= c.*606A= (n.*606A=) c.113A= (p.Asn38=) n.403A= c.431A= (p.Asn144=) | |
| 11 | g.68036511A>C | CA381569835 | NDUFS8 | c.551A>C (p.Asn184Thr) c.483A>C c.*606A>C (n.*606A>C) c.113A>C (p.Asn38Thr) n.403A>C c.431A>C (p.Asn144Thr) | |
| 11 | g.68036511A>G | CA381569837 | NDUFS8 | c.551A>G (p.Asn184Ser) c.483A>G c.*606A>G (n.*606A>G) c.113A>G (p.Asn38Ser) n.403A>G c.431A>G (p.Asn144Ser) | |
| 11 | g.68036511A>T | CA381569840 | NDUFS8 | c.551A>T (p.Asn184Ile) c.483A>T c.*606A>T (n.*606A>T) c.113A>T (p.Asn38Ile) n.403A>T c.431A>T (p.Asn144Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036511_68036512delinsAC | CA1980452364 | NDUFS8 | c.551_552delinsAC (p.Asn184=) c.483_484delinsAC c.*606_*607delinsAC (n.*606_*607delinsAC) c.113_114delinsAC (p.Asn38=) n.403_404delinsAC c.431_432delinsAC (p.Asn144=) | |
| 11 | g.68036512del | CA6146564 | NDUFS8 | c.552del (p.Asn184LysfsTer?) c.484del c.*607del (n.*607del) c.114del (p.Asn38LysfsTer?) n.404del c.432del (p.Asn144LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036512C>A | CA381569843 | NDUFS8 | c.552C>A (p.Asn184Lys) c.484C>A c.*607C>A (n.*607C>A) c.114C>A (p.Asn38Lys) n.404C>A c.432C>A (p.Asn144Lys) | |
| 11 | g.68036512C>G | CA381569846 | NDUFS8 | c.552C>G (p.Asn184Lys) c.484C>G c.*607C>G (n.*607C>G) c.114C>G (p.Asn38Lys) n.404C>G c.432C>G (p.Asn144Lys) | |
| 11 | g.68036512C>T | CA475442828 | NDUFS8 | c.552C>T (p.Asn184=) c.484C>T c.*607C>T (n.*607C>T) c.114C>T (p.Asn38=) n.404C>T c.432C>T (p.Asn144=) | |
| 11 | g.68036513A>C | CA381569858 | NDUFS8 | c.553A>C (p.Lys185Gln) c.485A>C c.553A>C c.*608A>C (n.*608A>C) c.115A>C (p.Lys39Gln) n.405A>C c.433A>C (p.Lys145Gln) | |
| 11 | g.68036513A>G | CA381569855 | NDUFS8 | c.553A>G (p.Lys185Glu) c.485A>G c.553A>G c.*608A>G (n.*608A>G) c.115A>G (p.Lys39Glu) n.405A>G c.433A>G (p.Lys145Glu) | gnomAD v4 |
| 11 | g.68036513A>T | CA381569852 | NDUFS8 | c.553A>T (p.Lys185Ter) c.485A>T c.553A>T c.*608A>T (n.*608A>T) c.115A>T (p.Lys39Ter) n.405A>T c.433A>T (p.Lys145Ter) | |
| 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.68036514A= | CA1980452376 | NDUFS8 | c.554A= (p.Lys185=) c.486A= c.554A= c.*609A= (n.*609A=) c.116A= (p.Lys39=) n.406A= c.434A= (p.Lys145=) | |
| 11 | g.68036514A>C | CA381569865 | NDUFS8 | c.554A>C (p.Lys185Thr) c.486A>C c.554A>C c.*609A>C (n.*609A>C) c.116A>C (p.Lys39Thr) n.406A>C c.434A>C (p.Lys145Thr) | |
| 11 | g.68036514A>G | CA381569874 | NDUFS8 | c.554A>G (p.Lys185Arg) c.486A>G c.554A>G c.*609A>G (n.*609A>G) c.116A>G (p.Lys39Arg) n.406A>G c.434A>G (p.Lys145Arg) | |
| 11 | g.68036514A>T | CA6146566 | NDUFS8 | c.554A>T (p.Lys185Met) c.486A>T c.554A>T c.*609A>T (n.*609A>T) c.116A>T (p.Lys39Met) n.406A>T c.434A>T (p.Lys145Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |