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 |
|---|---|---|---|---|---|
| 19 | g.41012326G>A | CA507537555 | CYP2B6 | c.993G>A (p.Val331=) c.1017G>A c.285G>A (p.Val95=) n.488G>A c.513G>A (p.Val171=) c.402G>A (p.Val134=) c.393G>A (p.Val131=) | |
| 19 | g.41012326G>C | CA507537556 | CYP2B6 | c.993G>C (p.Val331=) c.1017G>C c.285G>C (p.Val95=) n.488G>C c.513G>C (p.Val171=) c.402G>C (p.Val134=) c.393G>C (p.Val131=) | |
| 19 | g.41012326G>T | CA507537558 | CYP2B6 | c.993G>T (p.Val331=) c.1017G>T c.285G>T (p.Val95=) n.488G>T c.513G>T (p.Val171=) c.402G>T (p.Val134=) c.393G>T (p.Val131=) | |
| 19 | g.41012327A= | CA2336260301 | CYP2B6 | c.994A= (p.Ile332=) c.1018A= c.286A= (p.Ile96=) n.489A= c.514A= (p.Ile172=) c.403A= (p.Ile135=) c.394A= (p.Ile132=) | |
| 19 | g.41012327A>C | CA405984228 | CYP2B6 | c.994A>C (p.Ile332Leu) c.1018A>C c.286A>C (p.Ile96Leu) n.489A>C c.514A>C (p.Ile172Leu) c.403A>C (p.Ile135Leu) c.394A>C (p.Ile132Leu) | |
| 19 | g.41012327A>G | CA9455442 | CYP2B6 | c.994A>G (p.Ile332Val) c.1018A>G c.286A>G (p.Ile96Val) n.489A>G c.514A>G (p.Ile172Val) c.403A>G (p.Ile135Val) c.394A>G (p.Ile132Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41012327A>T | CA9455441 | CYP2B6 | c.994A>T (p.Ile332Phe) c.1018A>T c.286A>T (p.Ile96Phe) n.489A>T c.514A>T (p.Ile172Phe) c.403A>T (p.Ile135Phe) c.394A>T (p.Ile132Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012328T>A | CA405984233 | CYP2B6 | c.995T>A (p.Ile332Asn) c.1019T>A c.287T>A (p.Ile96Asn) n.490T>A c.515T>A (p.Ile172Asn) c.404T>A (p.Ile135Asn) c.395T>A (p.Ile132Asn) | |
| 19 | g.41012328T>C | CA9455443 | CYP2B6 | c.995T>C (p.Ile332Thr) c.1019T>C c.287T>C (p.Ile96Thr) n.490T>C c.515T>C (p.Ile172Thr) c.404T>C (p.Ile135Thr) c.395T>C (p.Ile132Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41012328T>G | CA405984232 | CYP2B6 | c.995T>G (p.Ile332Ser) c.1019T>G c.287T>G (p.Ile96Ser) n.490T>G c.515T>G (p.Ile172Ser) c.404T>G (p.Ile135Ser) c.395T>G (p.Ile132Ser) | |
| 19 | g.41012328T= | CA2336260302 | CYP2B6 | c.995T= (p.Ile332=) c.1019T= c.287T= (p.Ile96=) n.490T= c.515T= (p.Ile172=) c.404T= (p.Ile135=) c.395T= (p.Ile132=) | |
| 19 | g.41012329T>A | CA507537561 | CYP2B6 | c.996T>A (p.Ile332=) c.1020T>A c.288T>A (p.Ile96=) n.491T>A c.516T>A (p.Ile172=) c.405T>A (p.Ile135=) c.396T>A (p.Ile132=) | |
| 19 | g.41012329T>C | CA9455444 | CYP2B6 | c.996T>C (p.Ile332=) c.1020T>C c.288T>C (p.Ile96=) n.491T>C c.516T>C (p.Ile172=) c.405T>C (p.Ile135=) c.396T>C (p.Ile132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012329T>G | CA405984236 | CYP2B6 | c.996T>G (p.Ile332Met) c.1020T>G c.288T>G (p.Ile96Met) n.491T>G c.516T>G (p.Ile172Met) c.405T>G (p.Ile135Met) c.396T>G (p.Ile132Met) | |
| 19 | g.41012329T= | CA2336260303 | CYP2B6 | c.996T= (p.Ile332=) c.1020T= c.288T= (p.Ile96=) n.491T= c.516T= (p.Ile172=) c.405T= (p.Ile135=) c.396T= (p.Ile132=) | |
| 19 | g.41012330G>A | CA9455445 | CYP2B6 | c.997G>A (p.Gly333Ser) c.1021G>A c.289G>A (p.Gly97Ser) n.492G>A c.517G>A (p.Gly173Ser) c.406G>A (p.Gly136Ser) c.397G>A (p.Gly133Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012330G>C | CA405984239 | CYP2B6 | c.997G>C (p.Gly333Arg) c.1021G>C c.289G>C (p.Gly97Arg) n.492G>C c.517G>C (p.Gly173Arg) c.406G>C (p.Gly136Arg) c.397G>C (p.Gly133Arg) | |
| 19 | g.41012330G= | CA2336260304 | CYP2B6 | c.997G= (p.Gly333=) c.1021G= c.289G= (p.Gly97=) n.492G= c.517G= (p.Gly173=) c.406G= (p.Gly136=) c.397G= (p.Gly133=) | |
| 19 | g.41012330G>T | CA405984241 | CYP2B6 | c.997G>T (p.Gly333Cys) c.1021G>T c.289G>T (p.Gly97Cys) n.492G>T c.517G>T (p.Gly173Cys) c.406G>T (p.Gly136Cys) c.397G>T (p.Gly133Cys) | |
| 19 | g.41012331G>A | CA405984243 | CYP2B6 | c.998G>A (p.Gly333Asp) c.1022G>A c.290G>A (p.Gly97Asp) n.493G>A c.518G>A (p.Gly173Asp) c.407G>A (p.Gly136Asp) c.398G>A (p.Gly133Asp) | dbSNP gnomAD v4 |
| 19 | g.41012331G>C | CA405984245 | CYP2B6 | c.998G>C (p.Gly333Ala) c.1022G>C c.290G>C (p.Gly97Ala) n.493G>C c.518G>C (p.Gly173Ala) c.407G>C (p.Gly136Ala) c.398G>C (p.Gly133Ala) | |
| 19 | g.41012331G= | CA2336260305 | CYP2B6 | c.998G= (p.Gly333=) c.1022G= c.290G= (p.Gly97=) n.493G= c.518G= (p.Gly173=) c.407G= (p.Gly136=) c.398G= (p.Gly133=) | |
| 19 | g.41012331G>T | CA405984246 | CYP2B6 | c.998G>T (p.Gly333Val) c.1022G>T c.290G>T (p.Gly97Val) n.493G>T c.518G>T (p.Gly173Val) c.407G>T (p.Gly136Val) c.398G>T (p.Gly133Val) | |
| 19 | g.41012332C>A | CA507537562 | CYP2B6 | c.999C>A (p.Gly333=) c.1023C>A c.291C>A (p.Gly97=) n.494C>A c.519C>A (p.Gly173=) c.408C>A (p.Gly136=) c.399C>A (p.Gly133=) | |
| 19 | g.41012332C= | CA2336260306 | CYP2B6 | c.999C= (p.Gly333=) c.1023C= c.291C= (p.Gly97=) n.494C= c.519C= (p.Gly173=) c.408C= (p.Gly136=) c.399C= (p.Gly133=) | |
| 19 | g.41012332C>G | CA507537563 | CYP2B6 | c.999C>G (p.Gly333=) c.1023C>G c.291C>G (p.Gly97=) n.494C>G c.519C>G (p.Gly173=) c.408C>G (p.Gly136=) c.399C>G (p.Gly133=) | |
| 19 | g.41012332C>T | CA507537564 | CYP2B6 | c.999C>T (p.Gly333=) c.1023C>T c.291C>T (p.Gly97=) n.494C>T c.519C>T (p.Gly173=) c.408C>T (p.Gly136=) c.399C>T (p.Gly133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012333C>A | CA405984248 | CYP2B6 | c.1000C>A (p.Pro334Thr) c.1024C>A c.292C>A (p.Pro98Thr) n.495C>A c.520C>A (p.Pro174Thr) c.409C>A (p.Pro137Thr) c.400C>A (p.Pro134Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41012333C= | CA2336260307 | CYP2B6 | c.1000C= (p.Pro334=) c.1024C= c.292C= (p.Pro98=) n.495C= c.520C= (p.Pro174=) c.409C= (p.Pro137=) c.400C= (p.Pro134=) | |
| 19 | g.41012333C>G | CA405984250 | CYP2B6 | c.1000C>G (p.Pro334Ala) c.1024C>G c.292C>G (p.Pro98Ala) n.495C>G c.520C>G (p.Pro174Ala) c.409C>G (p.Pro137Ala) c.400C>G (p.Pro134Ala) | |
| 19 | g.41012333C>T | CA405984252 | CYP2B6 | c.1000C>T (p.Pro334Ser) c.1024C>T c.292C>T (p.Pro98Ser) n.495C>T c.520C>T (p.Pro174Ser) c.409C>T (p.Pro137Ser) c.400C>T (p.Pro134Ser) | |
| 19 | g.41012334C>A | CA405984253 | CYP2B6 | c.1001C>A (p.Pro334Gln) c.1025C>A c.293C>A (p.Pro98Gln) n.496C>A c.521C>A (p.Pro174Gln) c.410C>A (p.Pro137Gln) c.401C>A (p.Pro134Gln) | |
| 19 | g.41012334C>G | CA405984257 | CYP2B6 | c.1001C>G (p.Pro334Arg) c.1025C>G c.293C>G (p.Pro98Arg) n.496C>G c.521C>G (p.Pro174Arg) c.410C>G (p.Pro137Arg) c.401C>G (p.Pro134Arg) | |
| 19 | g.41012334C>T | CA405984255 | CYP2B6 | c.1001C>T (p.Pro334Leu) c.1025C>T c.293C>T (p.Pro98Leu) n.496C>T c.521C>T (p.Pro174Leu) c.410C>T (p.Pro137Leu) c.401C>T (p.Pro134Leu) | |
| 19 | g.41012335A= | CA2336260308 | CYP2B6 | c.1002A= (p.Pro334=) c.1026A= c.294A= (p.Pro98=) n.497A= c.522A= (p.Pro174=) c.411A= (p.Pro137=) c.402A= (p.Pro134=) | |
| 19 | g.41012335A>C | CA507537566 | CYP2B6 | c.1002A>C (p.Pro334=) c.1026A>C c.294A>C (p.Pro98=) n.497A>C c.522A>C (p.Pro174=) c.411A>C (p.Pro137=) c.402A>C (p.Pro134=) | |
| 19 | g.41012335A>G | CA507537567 | CYP2B6 | c.1002A>G (p.Pro334=) c.1026A>G c.294A>G (p.Pro98=) n.497A>G c.522A>G (p.Pro174=) c.411A>G (p.Pro137=) c.402A>G (p.Pro134=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41012335A>T | CA507537568 | CYP2B6 | c.1002A>T (p.Pro334=) c.1026A>T c.294A>T (p.Pro98=) n.497A>T c.522A>T (p.Pro174=) c.411A>T (p.Pro137=) c.402A>T (p.Pro134=) | |
| 19 | g.41012336C>A | CA405984259 | CYP2B6 | c.1003C>A (p.His335Asn) c.1027C>A c.295C>A (p.His99Asn) n.498C>A c.523C>A (p.His175Asn) c.412C>A (p.His138Asn) c.403C>A (p.His135Asn) | |
| 19 | g.41012336C>G | CA405984261 | CYP2B6 | c.1003C>G (p.His335Asp) c.1027C>G c.295C>G (p.His99Asp) n.498C>G c.523C>G (p.His175Asp) c.412C>G (p.His138Asp) c.403C>G (p.His135Asp) | |
| 19 | g.41012336C>T | CA405984263 | CYP2B6 | c.1003C>T (p.His335Tyr) c.1027C>T c.295C>T (p.His99Tyr) n.498C>T c.523C>T (p.His175Tyr) c.412C>T (p.His138Tyr) c.403C>T (p.His135Tyr) | gnomAD v4 |
| 19 | g.41012337A= | CA2336260309 | CYP2B6 | c.1004A= (p.His335=) c.1028A= c.296A= (p.His99=) n.499A= c.524A= (p.His175=) c.413A= (p.His138=) c.404A= (p.His135=) | |
| 19 | g.41012337A>C | CA405984265 | CYP2B6 | c.1004A>C (p.His335Pro) c.1028A>C c.296A>C (p.His99Pro) n.499A>C c.524A>C (p.His175Pro) c.413A>C (p.His138Pro) c.404A>C (p.His135Pro) | |
| 19 | g.41012337A>G | CA405984267 | CYP2B6 | c.1004A>G (p.His335Arg) c.1028A>G c.296A>G (p.His99Arg) n.499A>G c.524A>G (p.His175Arg) c.413A>G (p.His138Arg) c.404A>G (p.His135Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41012337A>T | CA405984269 | CYP2B6 | c.1004A>T (p.His335Leu) c.1028A>T c.296A>T (p.His99Leu) n.499A>T c.524A>T (p.His175Leu) c.413A>T (p.His138Leu) c.404A>T (p.His135Leu) | |
| 19 | g.41012338T>A | CA405984271 | CYP2B6 | c.1005T>A (p.His335Gln) c.1029T>A c.297T>A (p.His99Gln) n.500T>A c.525T>A (p.His175Gln) c.414T>A (p.His138Gln) c.405T>A (p.His135Gln) | |
| 19 | g.41012338T>C | CA507537570 | CYP2B6 | c.1005T>C (p.His335=) c.1029T>C c.297T>C (p.His99=) n.500T>C c.525T>C (p.His175=) c.414T>C (p.His138=) c.405T>C (p.His135=) | |
| 19 | g.41012338T>G | CA405984273 | CYP2B6 | c.1005T>G (p.His335Gln) c.1029T>G c.297T>G (p.His99Gln) n.500T>G c.525T>G (p.His175Gln) c.414T>G (p.His138Gln) c.405T>G (p.His135Gln) | |
| 19 | g.41012339C>A | CA405984275 | CYP2B6 | c.1006C>A (p.Arg336Ser) c.1030C>A c.298C>A (p.Arg100Ser) n.501C>A c.526C>A (p.Arg176Ser) c.415C>A (p.Arg139Ser) c.406C>A (p.Arg136Ser) | COSMIC |
| 19 | g.41012339C= | CA2336260310 | CYP2B6 | c.1006C= (p.Arg336=) c.1030C= c.298C= (p.Arg100=) n.501C= c.526C= (p.Arg176=) c.415C= (p.Arg139=) c.406C= (p.Arg136=) |