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 |
|---|---|---|---|---|---|
| X | g.19355707T>A | CA412394759 | PDHA1 | c.802T>A (p.Cys268Ser) c.*473T>A (n.*473T>A) c.865T>A (p.Cys289Ser) c.895T>A (p.Cys299Ser) n.576T>A c.*113T>A (n.*113T>A) c.*236T>A (n.*236T>A) c.781T>A (p.Cys261Ser) c.-63T>A (n.-63T>A) n.209T>A c.688T>A (p.Cys230Ser) c.916T>A (p.Cys306Ser) c.823T>A (p.Cys275Ser) | |
| X | g.19355707T>C | CA412394760 | PDHA1 | c.802T>C (p.Cys268Arg) c.*473T>C (n.*473T>C) c.865T>C (p.Cys289Arg) c.895T>C (p.Cys299Arg) n.576T>C c.*113T>C (n.*113T>C) c.*236T>C (n.*236T>C) c.781T>C (p.Cys261Arg) c.-63T>C (n.-63T>C) n.209T>C c.688T>C (p.Cys230Arg) c.916T>C (p.Cys306Arg) c.823T>C (p.Cys275Arg) | |
| X | g.19355707T>G | CA412394761 | PDHA1 | c.802T>G (p.Cys268Gly) c.*473T>G (n.*473T>G) c.865T>G (p.Cys289Gly) c.895T>G (p.Cys299Gly) n.576T>G c.*113T>G (n.*113T>G) c.*236T>G (n.*236T>G) c.781T>G (p.Cys261Gly) c.-63T>G (n.-63T>G) n.209T>G c.688T>G (p.Cys230Gly) c.916T>G (p.Cys306Gly) c.823T>G (p.Cys275Gly) | |
| X | g.19355708G>A | CA412394764 | PDHA1 | c.803G>A (p.Cys268Tyr) c.*474G>A (n.*474G>A) c.866G>A (p.Cys289Tyr) c.896G>A (p.Cys299Tyr) n.577G>A c.*114G>A (n.*114G>A) c.*237G>A (n.*237G>A) c.782G>A (p.Cys261Tyr) c.-62G>A (n.-62G>A) n.210G>A c.689G>A (p.Cys230Tyr) c.917G>A (p.Cys306Tyr) c.824G>A (p.Cys275Tyr) | |
| X | g.19355708G>C | CA412394762 | PDHA1 | c.803G>C (p.Cys268Ser) c.*474G>C (n.*474G>C) c.866G>C (p.Cys289Ser) c.896G>C (p.Cys299Ser) n.577G>C c.*114G>C (n.*114G>C) c.*237G>C (n.*237G>C) c.782G>C (p.Cys261Ser) c.-62G>C (n.-62G>C) n.210G>C c.689G>C (p.Cys230Ser) c.917G>C (p.Cys306Ser) c.824G>C (p.Cys275Ser) | |
| X | g.19355708G>T | CA412394763 | PDHA1 | c.803G>T (p.Cys268Phe) c.*474G>T (n.*474G>T) c.866G>T (p.Cys289Phe) c.896G>T (p.Cys299Phe) n.577G>T c.*114G>T (n.*114G>T) c.*237G>T (n.*237G>T) c.782G>T (p.Cys261Phe) c.-62G>T (n.-62G>T) n.210G>T c.689G>T (p.Cys230Phe) c.917G>T (p.Cys306Phe) c.824G>T (p.Cys275Phe) | |
| X | g.19355709C>A | CA412394765 | PDHA1 | c.804C>A (p.Cys268Ter) c.*475C>A (n.*475C>A) c.867C>A (p.Cys289Ter) c.897C>A (p.Cys299Ter) n.578C>A c.*115C>A (n.*115C>A) c.*238C>A (n.*238C>A) c.783C>A (p.Cys261Ter) c.-61C>A (n.-61C>A) n.211C>A c.690C>A (p.Cys230Ter) c.918C>A (p.Cys306Ter) c.825C>A (p.Cys275Ter) | |
| X | g.19355709C= | CA2418223747 | PDHA1 | c.804C= (p.Cys268=) c.*475C= (n.*475C=) c.867C= (p.Cys289=) c.897C= (p.Cys299=) n.578C= c.*115C= (n.*115C=) c.*238C= (n.*238C=) c.783C= (p.Cys261=) c.-61C= (n.-61C=) n.211C= c.690C= (p.Cys230=) c.918C= (p.Cys306=) c.825C= (p.Cys275=) | |
| X | g.19355709C>G | CA412394766 | PDHA1 | c.804C>G (p.Cys268Trp) c.*475C>G (n.*475C>G) c.867C>G (p.Cys289Trp) c.897C>G (p.Cys299Trp) n.578C>G c.*115C>G (n.*115C>G) c.*238C>G (n.*238C>G) c.783C>G (p.Cys261Trp) c.-61C>G (n.-61C>G) n.211C>G c.690C>G (p.Cys230Trp) c.918C>G (p.Cys306Trp) c.825C>G (p.Cys275Trp) | |
| X | g.19355709C>T | CA515486091 | PDHA1 | c.804C>T (p.Cys268=) c.*475C>T (n.*475C>T) c.867C>T (p.Cys289=) c.897C>T (p.Cys299=) n.578C>T c.*115C>T (n.*115C>T) c.*238C>T (n.*238C>T) c.783C>T (p.Cys261=) c.-61C>T (n.-61C>T) n.211C>T c.690C>T (p.Cys230=) c.918C>T (p.Cys306=) c.825C>T (p.Cys275=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.19355710G>A | CA204901 | PDHA1 | c.805G>A (p.Val269Ile) c.*476G>A (n.*476G>A) c.868G>A (p.Val290Ile) c.898G>A (p.Val300Ile) n.579G>A c.*116G>A (n.*116G>A) c.*239G>A (n.*239G>A) c.784G>A (p.Val262Ile) c.-60G>A (n.-60G>A) n.212G>A c.691G>A (p.Val231Ile) c.919G>A (p.Val307Ile) c.826G>A (p.Val276Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19355710G>C | CA412394767 | PDHA1 | c.805G>C (p.Val269Leu) c.*476G>C (n.*476G>C) c.868G>C (p.Val290Leu) c.898G>C (p.Val300Leu) n.579G>C c.*116G>C (n.*116G>C) c.*239G>C (n.*239G>C) c.784G>C (p.Val262Leu) c.-60G>C (n.-60G>C) n.212G>C c.691G>C (p.Val231Leu) c.919G>C (p.Val307Leu) c.826G>C (p.Val276Leu) | |
| X | g.19355710G= | CA2418223748 | PDHA1 | c.805G= (p.Val269=) c.*476G= (n.*476G=) c.868G= (p.Val290=) c.898G= (p.Val300=) n.579G= c.*116G= (n.*116G=) c.*239G= (n.*239G=) c.784G= (p.Val262=) c.-60G= (n.-60G=) n.212G= c.691G= (p.Val231=) c.919G= (p.Val307=) c.826G= (p.Val276=) | |
| X | g.19355710G>T | CA412394768 | PDHA1 | c.805G>T (p.Val269Phe) c.*476G>T (n.*476G>T) c.868G>T (p.Val290Phe) c.898G>T (p.Val300Phe) n.579G>T c.*116G>T (n.*116G>T) c.*239G>T (n.*239G>T) c.784G>T (p.Val262Phe) c.-60G>T (n.-60G>T) n.212G>T c.691G>T (p.Val231Phe) c.919G>T (p.Val307Phe) c.826G>T (p.Val276Phe) | ClinVar |
| X | g.19355711T>A | CA412394771 | PDHA1 | c.806T>A (p.Val269Asp) c.*477T>A (n.*477T>A) c.869T>A (p.Val290Asp) c.899T>A (p.Val300Asp) n.580T>A c.*117T>A (n.*117T>A) c.*240T>A (n.*240T>A) c.785T>A (p.Val262Asp) c.-59T>A (n.-59T>A) n.213T>A c.692T>A (p.Val231Asp) c.920T>A (p.Val307Asp) c.827T>A (p.Val276Asp) | |
| X | g.19355711T>C | CA412394769 | PDHA1 | c.806T>C (p.Val269Ala) c.*477T>C (n.*477T>C) c.869T>C (p.Val290Ala) c.899T>C (p.Val300Ala) n.580T>C c.*117T>C (n.*117T>C) c.*240T>C (n.*240T>C) c.785T>C (p.Val262Ala) c.-59T>C (n.-59T>C) n.213T>C c.692T>C (p.Val231Ala) c.920T>C (p.Val307Ala) c.827T>C (p.Val276Ala) | |
| X | g.19355711T>G | CA412394770 | PDHA1 | c.806T>G (p.Val269Gly) c.*477T>G (n.*477T>G) c.869T>G (p.Val290Gly) c.899T>G (p.Val300Gly) n.580T>G c.*117T>G (n.*117T>G) c.*240T>G (n.*240T>G) c.785T>G (p.Val262Gly) c.-59T>G (n.-59T>G) n.213T>G c.692T>G (p.Val231Gly) c.920T>G (p.Val307Gly) c.827T>G (p.Val276Gly) | |
| X | g.19355712C>A | CA515486092 | PDHA1 | c.807C>A (p.Val269=) c.*478C>A (n.*478C>A) c.870C>A (p.Val290=) c.900C>A (p.Val300=) n.581C>A c.*118C>A (n.*118C>A) c.*241C>A (n.*241C>A) c.786C>A (p.Val262=) c.-58C>A (n.-58C>A) n.214C>A c.693C>A (p.Val231=) c.921C>A (p.Val307=) c.828C>A (p.Val276=) | gnomAD v4 |
| X | g.19355712C>G | CA515486093 | PDHA1 | c.807C>G (p.Val269=) c.*478C>G (n.*478C>G) c.870C>G (p.Val290=) c.900C>G (p.Val300=) n.581C>G c.*118C>G (n.*118C>G) c.*241C>G (n.*241C>G) c.786C>G (p.Val262=) c.-58C>G (n.-58C>G) n.214C>G c.693C>G (p.Val231=) c.921C>G (p.Val307=) c.828C>G (p.Val276=) | |
| X | g.19355712C>T | CA515486094 | PDHA1 | c.807C>T (p.Val269=) c.*478C>T (n.*478C>T) c.870C>T (p.Val290=) c.900C>T (p.Val300=) n.581C>T c.*118C>T (n.*118C>T) c.*241C>T (n.*241C>T) c.786C>T (p.Val262=) c.-58C>T (n.-58C>T) n.214C>T c.693C>T (p.Val231=) c.921C>T (p.Val307=) c.828C>T (p.Val276=) | |
| X | g.19355713C>A | CA515486095 | PDHA1 | c.808C>A (p.Arg270=) c.*479C>A (n.*479C>A) c.871C>A (p.Arg291=) c.901C>A (p.Arg301=) n.582C>A c.*119C>A (n.*119C>A) c.*242C>A (n.*242C>A) c.787C>A (p.Arg263=) c.-57C>A (n.-57C>A) n.215C>A c.694C>A (p.Arg232=) c.922C>A (p.Arg308=) c.829C>A (p.Arg277=) | gnomAD v4 |
| X | g.19355713C= | CA2418223749 | PDHA1 | c.808C= (p.Arg270=) c.*479C= (n.*479C=) c.871C= (p.Arg291=) c.901C= (p.Arg301=) n.582C= c.*119C= (n.*119C=) c.*242C= (n.*242C=) c.787C= (p.Arg263=) c.-57C= (n.-57C=) n.215C= c.694C= (p.Arg232=) c.922C= (p.Arg308=) c.829C= (p.Arg277=) | |
| X | g.19355713C>G | CA121213 | PDHA1 | c.808C>G (p.Arg270Gly) c.*479C>G (n.*479C>G) c.871C>G (p.Arg291Gly) c.901C>G (p.Arg301Gly) n.582C>G c.*119C>G (n.*119C>G) c.*242C>G (n.*242C>G) c.787C>G (p.Arg263Gly) c.-57C>G (n.-57C>G) n.215C>G c.694C>G (p.Arg232Gly) c.922C>G (p.Arg308Gly) c.829C>G (p.Arg277Gly) | ClinVar dbSNP |
| X | g.19355713C>T | CA412394772 | PDHA1 | c.808C>T (p.Arg270Ter) c.*479C>T (n.*479C>T) c.871C>T (p.Arg291Ter) c.901C>T (p.Arg301Ter) n.582C>T c.*119C>T (n.*119C>T) c.*242C>T (n.*242C>T) c.787C>T (p.Arg263Ter) c.-57C>T (n.-57C>T) n.215C>T c.694C>T (p.Arg232Ter) c.922C>T (p.Arg308Ter) c.829C>T (p.Arg277Ter) | ClinVar dbSNP |
| X | g.19355713_19355715delinsCGA | CA2418223750 | PDHA1 | c.808_810delinsCGA (p.Arg270=) c.*479_*481delinsCGA (n.*479_*481delinsCGA) c.871_873delinsCGA (p.Arg291=) c.901_903delinsCGA (p.Arg301=) n.582_584delinsCGA c.*119_*121delinsCGA (n.*119_*121delinsCGA) c.*242_*244delinsCGA (n.*242_*244delinsCGA) c.787_789delinsCGA (p.Arg263=) c.-57_-55delinsCGA (n.-57_-55delinsCGA) n.215_217delinsCGA c.694_696delinsCGA (p.Arg232=) c.922_924delinsCGA (p.Arg308=) c.829_831delinsCGA (p.Arg277=) | |
| X | g.19355714G>A | CA412394773 | PDHA1 | c.809G>A (p.Arg270Gln) c.*480G>A (n.*480G>A) c.872G>A (p.Arg291Gln) c.902G>A (p.Arg301Gln) n.583G>A c.*120G>A (n.*120G>A) c.*243G>A (n.*243G>A) c.788G>A (p.Arg263Gln) c.-56G>A (n.-56G>A) n.216G>A c.695G>A (p.Arg232Gln) c.923G>A (p.Arg308Gln) c.830G>A (p.Arg277Gln) | ClinVar gnomAD v4 |
| X | g.19355714G>C | CA412394774 | PDHA1 | c.809G>C (p.Arg270Pro) c.*480G>C (n.*480G>C) c.872G>C (p.Arg291Pro) c.902G>C (p.Arg301Pro) n.583G>C c.*120G>C (n.*120G>C) c.*243G>C (n.*243G>C) c.788G>C (p.Arg263Pro) c.-56G>C (n.-56G>C) n.216G>C c.695G>C (p.Arg232Pro) c.923G>C (p.Arg308Pro) c.830G>C (p.Arg277Pro) | ClinVar dbSNP |
| X | g.19355714G= | CA2418223751 | PDHA1 | c.809G= (p.Arg270=) c.*480G= (n.*480G=) c.872G= (p.Arg291=) c.902G= (p.Arg301=) n.583G= c.*120G= (n.*120G=) c.*243G= (n.*243G=) c.788G= (p.Arg263=) c.-56G= (n.-56G=) n.216G= c.695G= (p.Arg232=) c.923G= (p.Arg308=) c.830G= (p.Arg277=) | |
| X | g.19355714G>T | CA412394775 | PDHA1 | c.809G>T (p.Arg270Leu) c.*480G>T (n.*480G>T) c.872G>T (p.Arg291Leu) c.902G>T (p.Arg301Leu) n.583G>T c.*120G>T (n.*120G>T) c.*243G>T (n.*243G>T) c.788G>T (p.Arg263Leu) c.-56G>T (n.-56G>T) n.216G>T c.695G>T (p.Arg232Leu) c.923G>T (p.Arg308Leu) c.830G>T (p.Arg277Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.19355717_19355718del | CA891862975 | PDHA1 | c.812_813del (p.Glu271GlyfsTer10) c.*483_*484del (n.*483_*484del) c.875_876del (p.Glu292GlyfsTer10) c.905_906del (p.Glu302GlyfsTer10) n.586_587del c.*123_*124del (n.*123_*124del) c.*246_*247del (n.*246_*247del) c.791_792del (p.Glu264GlyfsTer10) c.-53_-52del (n.-53_-52del) n.219_220del c.698_699del (p.Glu233GlyfsTer10) c.926_927del (p.Glu309GlyfsTer10) c.833_834del (p.Glu278GlyfsTer10) | ClinVar dbSNP |
| X | g.19355715A>C | CA515486096 | PDHA1 | c.810A>C (p.Arg270=) c.*481A>C (n.*481A>C) c.873A>C (p.Arg291=) c.903A>C (p.Arg301=) n.584A>C c.*121A>C (n.*121A>C) c.*244A>C (n.*244A>C) c.789A>C (p.Arg263=) c.-55A>C (n.-55A>C) n.217A>C c.696A>C (p.Arg232=) c.924A>C (p.Arg308=) c.831A>C (p.Arg277=) | |
| X | g.19355715A>G | CA515486097 | PDHA1 | c.810A>G (p.Arg270=) c.*481A>G (n.*481A>G) c.873A>G (p.Arg291=) c.903A>G (p.Arg301=) n.584A>G c.*121A>G (n.*121A>G) c.*244A>G (n.*244A>G) c.789A>G (p.Arg263=) c.-55A>G (n.-55A>G) n.217A>G c.696A>G (p.Arg232=) c.924A>G (p.Arg308=) c.831A>G (p.Arg277=) | |
| X | g.19355715A>T | CA515486098 | PDHA1 | c.810A>T (p.Arg270=) c.*481A>T (n.*481A>T) c.873A>T (p.Arg291=) c.903A>T (p.Arg301=) n.584A>T c.*121A>T (n.*121A>T) c.*244A>T (n.*244A>T) c.789A>T (p.Arg263=) c.-55A>T (n.-55A>T) n.217A>T c.696A>T (p.Arg232=) c.924A>T (p.Arg308=) c.831A>T (p.Arg277=) | |
| X | g.19355716G>A | CA412394776 | PDHA1 | c.811G>A (p.Glu271Lys) c.*482G>A (n.*482G>A) c.874G>A (p.Glu292Lys) c.904G>A (p.Glu302Lys) n.585G>A c.*122G>A (n.*122G>A) c.*245G>A (n.*245G>A) c.790G>A (p.Glu264Lys) c.-54G>A (n.-54G>A) n.218G>A c.697G>A (p.Glu233Lys) c.925G>A (p.Glu309Lys) c.832G>A (p.Glu278Lys) | ClinVar COSMIC COSMIC COSMIC |
| X | g.19355716G>C | CA10363116 | PDHA1 | c.811G>C (p.Glu271Gln) c.*482G>C (n.*482G>C) c.874G>C (p.Glu292Gln) c.904G>C (p.Glu302Gln) n.585G>C c.*122G>C (n.*122G>C) c.*245G>C (n.*245G>C) c.790G>C (p.Glu264Gln) c.-54G>C (n.-54G>C) n.218G>C c.697G>C (p.Glu233Gln) c.925G>C (p.Glu309Gln) c.832G>C (p.Glu278Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19355716G= | CA2418223752 | PDHA1 | c.811G= (p.Glu271=) c.*482G= (n.*482G=) c.874G= (p.Glu292=) c.904G= (p.Glu302=) n.585G= c.*122G= (n.*122G=) c.*245G= (n.*245G=) c.790G= (p.Glu264=) c.-54G= (n.-54G=) n.218G= c.697G= (p.Glu233=) c.925G= (p.Glu309=) c.832G= (p.Glu278=) | |
| X | g.19355716G>T | CA412394777 | PDHA1 | c.811G>T (p.Glu271Ter) c.*482G>T (n.*482G>T) c.874G>T (p.Glu292Ter) c.904G>T (p.Glu302Ter) n.585G>T c.*122G>T (n.*122G>T) c.*245G>T (n.*245G>T) c.790G>T (p.Glu264Ter) c.-54G>T (n.-54G>T) n.218G>T c.697G>T (p.Glu233Ter) c.925G>T (p.Glu309Ter) c.832G>T (p.Glu278Ter) | |
| X | g.19355717A>C | CA412394778 | PDHA1 | c.812A>C (p.Glu271Ala) c.*483A>C (n.*483A>C) c.875A>C (p.Glu292Ala) c.905A>C (p.Glu302Ala) n.586A>C c.*123A>C (n.*123A>C) c.*246A>C (n.*246A>C) c.791A>C (p.Glu264Ala) c.-53A>C (n.-53A>C) n.219A>C c.698A>C (p.Glu233Ala) c.926A>C (p.Glu309Ala) c.833A>C (p.Glu278Ala) | |
| X | g.19355717A>G | CA412394779 | PDHA1 | c.812A>G (p.Glu271Gly) c.*483A>G (n.*483A>G) c.875A>G (p.Glu292Gly) c.905A>G (p.Glu302Gly) n.586A>G c.*123A>G (n.*123A>G) c.*246A>G (n.*246A>G) c.791A>G (p.Glu264Gly) c.-53A>G (n.-53A>G) n.219A>G c.698A>G (p.Glu233Gly) c.926A>G (p.Glu309Gly) c.833A>G (p.Glu278Gly) | |
| X | g.19355717A>T | CA412394780 | PDHA1 | c.812A>T (p.Glu271Val) c.*483A>T (n.*483A>T) c.875A>T (p.Glu292Val) c.905A>T (p.Glu302Val) n.586A>T c.*123A>T (n.*123A>T) c.*246A>T (n.*246A>T) c.791A>T (p.Glu264Val) c.-53A>T (n.-53A>T) n.219A>T c.698A>T (p.Glu233Val) c.926A>T (p.Glu309Val) c.833A>T (p.Glu278Val) | |
| X | g.19355718G>A | CA515486099 | PDHA1 | c.813G>A (p.Glu271=) c.*484G>A (n.*484G>A) c.876G>A (p.Glu292=) c.906G>A (p.Glu302=) n.587G>A c.*124G>A (n.*124G>A) c.*247G>A (n.*247G>A) c.792G>A (p.Glu264=) c.-52G>A (n.-52G>A) n.220G>A c.699G>A (p.Glu233=) c.927G>A (p.Glu309=) c.834G>A (p.Glu278=) | gnomAD v4 |
| X | g.19355718G>C | CA412394781 | PDHA1 | c.813G>C (p.Glu271Asp) c.*484G>C (n.*484G>C) c.876G>C (p.Glu292Asp) c.906G>C (p.Glu302Asp) n.587G>C c.*124G>C (n.*124G>C) c.*247G>C (n.*247G>C) c.792G>C (p.Glu264Asp) c.-52G>C (n.-52G>C) n.220G>C c.699G>C (p.Glu233Asp) c.927G>C (p.Glu309Asp) c.834G>C (p.Glu278Asp) | |
| X | g.19355718G>T | CA412394782 | PDHA1 | c.813G>T (p.Glu271Asp) c.*484G>T (n.*484G>T) c.876G>T (p.Glu292Asp) c.906G>T (p.Glu302Asp) n.587G>T c.*124G>T (n.*124G>T) c.*247G>T (n.*247G>T) c.792G>T (p.Glu264Asp) c.-52G>T (n.-52G>T) n.220G>T c.699G>T (p.Glu233Asp) c.927G>T (p.Glu309Asp) c.834G>T (p.Glu278Asp) | |
| X | g.19355719G>A | CA412394783 | PDHA1 | c.814G>A (p.Ala272Thr) c.*485G>A (n.*485G>A) c.877G>A (p.Ala293Thr) c.907G>A (p.Ala303Thr) n.588G>A c.*125G>A (n.*125G>A) c.*248G>A (n.*248G>A) c.793G>A (p.Ala265Thr) c.-51G>A (n.-51G>A) n.221G>A c.700G>A (p.Ala234Thr) c.928G>A (p.Ala310Thr) c.835G>A (p.Ala279Thr) | |
| X | g.19355719G>C | CA412394785 | PDHA1 | c.814G>C (p.Ala272Pro) c.*485G>C (n.*485G>C) c.877G>C (p.Ala293Pro) c.907G>C (p.Ala303Pro) n.588G>C c.*125G>C (n.*125G>C) c.*248G>C (n.*248G>C) c.793G>C (p.Ala265Pro) c.-51G>C (n.-51G>C) n.221G>C c.700G>C (p.Ala234Pro) c.928G>C (p.Ala310Pro) c.835G>C (p.Ala279Pro) | |
| X | g.19355719G>T | CA412394784 | PDHA1 | c.814G>T (p.Ala272Ser) c.*485G>T (n.*485G>T) c.877G>T (p.Ala293Ser) c.907G>T (p.Ala303Ser) n.588G>T c.*125G>T (n.*125G>T) c.*248G>T (n.*248G>T) c.793G>T (p.Ala265Ser) c.-51G>T (n.-51G>T) n.221G>T c.700G>T (p.Ala234Ser) c.928G>T (p.Ala310Ser) c.835G>T (p.Ala279Ser) | |
| X | g.19355720C>A | CA412394786 | PDHA1 | c.815C>A (p.Ala272Glu) c.*486C>A (n.*486C>A) c.878C>A (p.Ala293Glu) c.908C>A (p.Ala303Glu) n.589C>A c.*126C>A (n.*126C>A) c.*249C>A (n.*249C>A) c.794C>A (p.Ala265Glu) c.-50C>A (n.-50C>A) n.222C>A c.701C>A (p.Ala234Glu) c.929C>A (p.Ala310Glu) c.836C>A (p.Ala279Glu) | |
| X | g.19355720C= | CA2418223753 | PDHA1 | c.815C= (p.Ala272=) c.*486C= (n.*486C=) c.878C= (p.Ala293=) c.908C= (p.Ala303=) n.589C= c.*126C= (n.*126C=) c.*249C= (n.*249C=) c.794C= (p.Ala265=) c.-50C= (n.-50C=) n.222C= c.701C= (p.Ala234=) c.929C= (p.Ala310=) c.836C= (p.Ala279=) | |
| X | g.19355720C>G | CA412394787 | PDHA1 | c.815C>G (p.Ala272Gly) c.*486C>G (n.*486C>G) c.878C>G (p.Ala293Gly) c.908C>G (p.Ala303Gly) n.589C>G c.*126C>G (n.*126C>G) c.*249C>G (n.*249C>G) c.794C>G (p.Ala265Gly) c.-50C>G (n.-50C>G) n.222C>G c.701C>G (p.Ala234Gly) c.929C>G (p.Ala310Gly) c.836C>G (p.Ala279Gly) | |
| X | g.19355720C>T | CA412394788 | PDHA1 | c.815C>T (p.Ala272Val) c.*486C>T (n.*486C>T) c.878C>T (p.Ala293Val) c.908C>T (p.Ala303Val) n.589C>T c.*126C>T (n.*126C>T) c.*249C>T (n.*249C>T) c.794C>T (p.Ala265Val) c.-50C>T (n.-50C>T) n.222C>T c.701C>T (p.Ala234Val) c.929C>T (p.Ala310Val) c.836C>T (p.Ala279Val) | dbSNP gnomAD v4 |