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 |
|---|---|---|---|---|---|
| 5 | g.41853435A= | CA1541862297 | OXCT1 | c.398T= (p.Val133=) n.574T= c.419T= (p.Val140=) n.465T= n.575T= | |
| 5 | g.41853435A>C | CA359629283 | OXCT1 | c.398T>G (p.Val133Gly) n.574T>G c.419T>G (p.Val140Gly) n.465T>G n.575T>G | |
| 5 | g.41853435A>G | CA359629284 | OXCT1 | c.398T>C (p.Val133Ala) n.574T>C c.419T>C (p.Val140Ala) n.465T>C n.575T>C | |
| 5 | g.41853435A>T | CA031415 | OXCT1 | c.398T>A (p.Val133Glu) n.574T>A c.419T>A (p.Val140Glu) n.465T>A n.575T>A | dbSNP |
| 5 | g.[41853435A>T;41862656G>A] | CA031445 | OXCT1 | c.[173C>T;398T>A] (p.[Thr58Met;Val133Glu]) n.[349C>T;574T>A] c.[194C>T;419T>A] (p.[Thr65Met;Val140Glu]) n.[240C>T;465T>A] n.[350C>T;575T>A] | ClinVar |
| 5 | g.41853436C>A | CA359629285 | OXCT1 | c.397G>T (p.Val133Leu) n.573G>T c.418G>T (p.Val140Leu) n.464G>T n.574G>T | |
| 5 | g.41853436C>G | CA359629286 | OXCT1 | c.397G>C (p.Val133Leu) n.573G>C c.418G>C (p.Val140Leu) n.464G>C n.574G>C | |
| 5 | g.41853436C>T | CA359629287 | OXCT1 | c.397G>A (p.Val133Met) n.573G>A c.418G>A (p.Val140Met) n.464G>A n.574G>A | |
| 5 | g.41853437T>A | CA359629288 | OXCT1 | c.396A>T (p.Glu132Asp) n.572A>T c.417A>T (p.Glu139Asp) n.463A>T n.573A>T | |
| 5 | g.41853437T>C | CA443813147 | OXCT1 | c.396A>G (p.Glu132=) n.572A>G c.417A>G (p.Glu139=) n.463A>G n.573A>G | |
| 5 | g.41853437T>G | CA359629289 | OXCT1 | c.396A>C (p.Glu132Asp) n.572A>C c.417A>C (p.Glu139Asp) n.463A>C n.573A>C | |
| 5 | g.41853438T>A | CA359629290 | OXCT1 | c.395A>T (p.Glu132Val) n.571A>T c.416A>T (p.Glu139Val) n.462A>T n.572A>T | |
| 5 | g.41853438T>C | CA359629291 | OXCT1 | c.395A>G (p.Glu132Gly) n.571A>G c.416A>G (p.Glu139Gly) n.462A>G n.572A>G | |
| 5 | g.41853438T>G | CA359629292 | OXCT1 | c.395A>C (p.Glu132Ala) n.571A>C c.416A>C (p.Glu139Ala) n.462A>C n.572A>C | |
| 5 | g.41853439C>A | CA359629293 | OXCT1 | c.394G>T (p.Glu132Ter) n.570G>T c.415G>T (p.Glu139Ter) n.461G>T n.571G>T | |
| 5 | g.41853439C>G | CA359629294 | OXCT1 | c.394G>C (p.Glu132Gln) n.570G>C c.415G>C (p.Glu139Gln) n.461G>C n.571G>C | |
| 5 | g.41853439C>T | CA359629295 | OXCT1 | c.394G>A (p.Glu132Lys) n.570G>A c.415G>A (p.Glu139Lys) n.461G>A n.571G>A | |
| 5 | g.41853440T>A | CA359629296 | OXCT1 | c.393A>T (p.Leu131Phe) n.569A>T c.414A>T (p.Leu138Phe) n.460A>T n.570A>T | |
| 5 | g.41853440T>C | CA443813156 | OXCT1 | c.393A>G (p.Leu131=) n.569A>G c.414A>G (p.Leu138=) n.460A>G n.570A>G | gnomAD v4 |
| 5 | g.41853440T>G | CA359629297 | OXCT1 | c.393A>C (p.Leu131Phe) n.569A>C c.414A>C (p.Leu138Phe) n.460A>C n.570A>C | |
| 5 | g.41853441A>C | CA359629298 | OXCT1 | c.392T>G (p.Leu131Ter) n.568T>G c.413T>G (p.Leu138Ter) n.459T>G n.569T>G | |
| 5 | g.41853441A>G | CA359629299 | OXCT1 | c.392T>C (p.Leu131Ser) n.568T>C c.413T>C (p.Leu138Ser) n.459T>C n.569T>C | |
| 5 | g.41853441A>T | CA359629300 | OXCT1 | c.392T>A (p.Leu131Ter) n.568T>A c.413T>A (p.Leu138Ter) n.459T>A n.569T>A | |
| 5 | g.41853442A>C | CA359629301 | OXCT1 | c.391T>G (p.Leu131Val) n.567T>G c.412T>G (p.Leu138Val) n.458T>G n.568T>G | |
| 5 | g.41853442A>G | CA443813164 | OXCT1 | c.391T>C (p.Leu131=) n.567T>C c.412T>C (p.Leu138=) n.458T>C n.568T>C | |
| 5 | g.41853442A>T | CA359629302 | OXCT1 | c.391T>A (p.Leu131Ile) n.567T>A c.412T>A (p.Leu138Ile) n.458T>A n.568T>A | |
| 5 | g.41853443T>A | CA359629303 | OXCT1 | c.390A>T (p.Glu130Asp) n.566A>T c.411A>T (p.Glu137Asp) n.457A>T n.567A>T | |
| 5 | g.41853443T>C | CA117805939 | OXCT1 | c.390A>G (p.Glu130=) n.566A>G c.411A>G (p.Glu137=) n.457A>G n.567A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.41853443T>G | CA359629304 | OXCT1 | c.390A>C (p.Glu130Asp) n.566A>C c.411A>C (p.Glu137Asp) n.457A>C n.567A>C | |
| 5 | g.41853443T= | CA1541862302 | OXCT1 | c.390A= (p.Glu130=) n.566A= c.411A= (p.Glu137=) n.457A= n.567A= | |
| 5 | g.41853444T>A | CA359629305 | OXCT1 | c.389A>T (p.Glu130Val) n.565A>T c.410A>T (p.Glu137Val) n.456A>T n.566A>T | |
| 5 | g.41853444T>C | CA359629306 | OXCT1 | c.389A>G (p.Glu130Gly) n.565A>G c.410A>G (p.Glu137Gly) n.456A>G n.566A>G | |
| 5 | g.41853444T>G | CA359629307 | OXCT1 | c.389A>C (p.Glu130Ala) n.565A>C c.410A>C (p.Glu137Ala) n.456A>C n.566A>C | |
| 5 | g.41853445C>A | CA359629308 | OXCT1 | c.388G>T (p.Glu130Ter) n.564G>T c.409G>T (p.Glu137Ter) n.455G>T n.565G>T | |
| 5 | g.41853445C>G | CA359629310 | OXCT1 | c.388G>C (p.Glu130Gln) n.564G>C c.409G>C (p.Glu137Gln) n.455G>C n.565G>C | |
| 5 | g.41853445C>T | CA359629309 | OXCT1 | c.388G>A (p.Glu130Lys) n.564G>A c.409G>A (p.Glu137Lys) n.455G>A n.565G>A | |
| 5 | g.41853446A= | CA1541862305 | OXCT1 | c.387T= (p.Gly129=) n.563T= c.408T= (p.Gly136=) n.454T= n.564T= | |
| 5 | g.41853446A>C | CA3253621 | OXCT1 | c.387T>G (p.Gly129=) n.563T>G c.408T>G (p.Gly136=) n.454T>G n.564T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.41853446A>G | CA443813182 | OXCT1 | c.387T>C (p.Gly129=) n.563T>C c.408T>C (p.Gly136=) n.454T>C n.564T>C | |
| 5 | g.41853446A>T | CA443813184 | OXCT1 | c.387T>A (p.Gly129=) n.563T>A c.408T>A (p.Gly136=) n.454T>A n.564T>A | |
| 5 | g.41853447C>A | CA359629311 | OXCT1 | c.386G>T (p.Gly129Val) n.562G>T c.407G>T (p.Gly136Val) n.453G>T n.563G>T | |
| 5 | g.41853447C>G | CA359629312 | OXCT1 | c.386G>C (p.Gly129Ala) n.562G>C c.407G>C (p.Gly136Ala) n.453G>C n.563G>C | |
| 5 | g.41853447C>T | CA359629313 | OXCT1 | c.386G>A (p.Gly129Asp) n.562G>A c.407G>A (p.Gly136Asp) n.453G>A n.563G>A | |
| 5 | g.41853448C>A | CA359629314 | OXCT1 | c.385G>T (p.Gly129Cys) n.561G>T c.406G>T (p.Gly136Cys) n.452G>T n.562G>T | |
| 5 | g.41853448C>G | CA359629315 | OXCT1 | c.385G>C (p.Gly129Arg) n.561G>C c.406G>C (p.Gly136Arg) n.452G>C n.562G>C | |
| 5 | g.41853448C>T | CA359629316 | OXCT1 | c.385G>A (p.Gly129Ser) n.561G>A c.406G>A (p.Gly136Ser) n.452G>A n.562G>A | |
| 5 | g.41853449A>C | CA443813193 | OXCT1 | c.384T>G (p.Ser128=) n.560T>G c.405T>G (p.Ser135=) n.451T>G n.561T>G | |
| 5 | g.41853449A>G | CA443813195 | OXCT1 | c.384T>C (p.Ser128=) n.560T>C c.405T>C (p.Ser135=) n.451T>C n.561T>C | |
| 5 | g.41853449A>T | CA443813196 | OXCT1 | c.384T>A (p.Ser128=) n.560T>A c.405T>A (p.Ser135=) n.451T>A n.561T>A | |
| 5 | g.41853450G>A | CA359629319 | OXCT1 | c.383C>T (p.Ser128Phe) n.559C>T c.404C>T (p.Ser135Phe) n.450C>T n.560C>T |