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.113412648C>A | CA382649807 | DRD2 | c.1046G>T (p.Gly349Val) c.959G>T (p.Gly320Val) c.1052G>T (p.Gly351Val) c.1043G>T (p.Gly348Val) | |
| 11 | g.113412648C>G | CA382649808 | DRD2 | c.1046G>C (p.Gly349Ala) c.959G>C (p.Gly320Ala) c.1052G>C (p.Gly351Ala) c.1043G>C (p.Gly348Ala) | |
| 11 | g.113412648C>T | CA382649810 | DRD2 | c.1046G>A (p.Gly349Asp) c.959G>A (p.Gly320Asp) c.1052G>A (p.Gly351Asp) c.1043G>A (p.Gly348Asp) | |
| 11 | g.113412648_113412649dup | CA671865347 | DRD2 | c.1045_1046dup (p.Lys350AlafsTer10) c.958_959dup (p.Lys321AlafsTer10) c.1051_1052dup (p.Lys352AlafsTer10) c.1042_1043dup (p.Lys349AlafsTer10) | dbSNP |
| 11 | g.113412649C>A | CA382649813 | DRD2 | c.1045G>T (p.Gly349Cys) c.958G>T (p.Gly320Cys) c.1051G>T (p.Gly351Cys) c.1042G>T (p.Gly348Cys) | |
| 11 | g.113412649C>G | CA382649814 | DRD2 | c.1045G>C (p.Gly349Arg) c.958G>C (p.Gly320Arg) c.1051G>C (p.Gly351Arg) c.1042G>C (p.Gly348Arg) | |
| 11 | g.113412649C>T | CA382649816 | DRD2 | c.1045G>A (p.Gly349Ser) c.958G>A (p.Gly320Ser) c.1051G>A (p.Gly351Ser) c.1042G>A (p.Gly348Ser) | |
| 11 | g.113412650A>C | CA382649818 | DRD2 | c.1044T>G (p.Asn348Lys) c.957T>G (p.Asn319Lys) c.1050T>G (p.Asn350Lys) c.1041T>G (p.Asn347Lys) | |
| 11 | g.113412650A>G | CA477043084 | DRD2 | c.1044T>C (p.Asn348=) c.957T>C (p.Asn319=) c.1050T>C (p.Asn350=) c.1041T>C (p.Asn347=) | |
| 11 | g.113412650A>T | CA382649820 | DRD2 | c.1044T>A (p.Asn348Lys) c.957T>A (p.Asn319Lys) c.1050T>A (p.Asn350Lys) c.1041T>A (p.Asn347Lys) | |
| 11 | g.113412651T>A | CA382649822 | DRD2 | c.1043A>T (p.Asn348Ile) c.956A>T (p.Asn319Ile) c.1049A>T (p.Asn350Ile) c.1040A>T (p.Asn347Ile) | |
| 11 | g.113412651T>C | CA6281206 | DRD2 | c.1043A>G (p.Asn348Ser) c.956A>G (p.Asn319Ser) c.1049A>G (p.Asn350Ser) c.1040A>G (p.Asn347Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412651T>G | CA382649824 | DRD2 | c.1043A>C (p.Asn348Thr) c.956A>C (p.Asn319Thr) c.1049A>C (p.Asn350Thr) c.1040A>C (p.Asn347Thr) | |
| 11 | g.113412651T= | CA2001167958 | DRD2 | c.1043A= (p.Asn348=) c.956A= (p.Asn319=) c.1049A= (p.Asn350=) c.1040A= (p.Asn347=) | |
| 11 | g.113412652T>A | CA382649826 | DRD2 | c.1042A>T (p.Asn348Tyr) c.955A>T (p.Asn319Tyr) c.1048A>T (p.Asn350Tyr) c.1039A>T (p.Asn347Tyr) | |
| 11 | g.113412652T>C | CA382649830 | DRD2 | c.1042A>G (p.Asn348Asp) c.955A>G (p.Asn319Asp) c.1048A>G (p.Asn350Asp) c.1039A>G (p.Asn347Asp) | |
| 11 | g.113412652T>G | CA382649828 | DRD2 | c.1042A>C (p.Asn348His) c.955A>C (p.Asn319His) c.1048A>C (p.Asn350His) c.1039A>C (p.Asn347His) | |
| 11 | g.113412653G>A | CA477043085 | DRD2 | c.1041C>T (p.Pro347=) c.954C>T (p.Pro318=) c.1047C>T (p.Pro349=) c.1038C>T (p.Pro346=) | |
| 11 | g.113412653G>C | CA477043086 | DRD2 | c.1041C>G (p.Pro347=) c.954C>G (p.Pro318=) c.1047C>G (p.Pro349=) c.1038C>G (p.Pro346=) | |
| 11 | g.113412653G>T | CA477043087 | DRD2 | c.1041C>A (p.Pro347=) c.954C>A (p.Pro318=) c.1047C>A (p.Pro349=) c.1038C>A (p.Pro346=) | |
| 11 | g.113412654G>A | CA228625629 | DRD2 | c.1040C>T (p.Pro347Leu) c.953C>T (p.Pro318Leu) c.1046C>T (p.Pro349Leu) c.1037C>T (p.Pro346Leu) | dbSNP COSMIC |
| 11 | g.113412654G>C | CA382649835 | DRD2 | c.1040C>G (p.Pro347Arg) c.953C>G (p.Pro318Arg) c.1046C>G (p.Pro349Arg) c.1037C>G (p.Pro346Arg) | |
| 11 | g.113412654G= | CA2001167959 | DRD2 | c.1040C= (p.Pro347=) c.953C= (p.Pro318=) c.1046C= (p.Pro349=) c.1037C= (p.Pro346=) | |
| 11 | g.113412654G>T | CA382649833 | DRD2 | c.1040C>A (p.Pro347His) c.953C>A (p.Pro318His) c.1046C>A (p.Pro349His) c.1037C>A (p.Pro346His) | |
| 11 | g.113412655G>A | CA228625632 | DRD2 | c.1039C>T (p.Pro347Ser) c.952C>T (p.Pro318Ser) c.1045C>T (p.Pro349Ser) c.1036C>T (p.Pro346Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113412655G>C | CA382649838 | DRD2 | c.1039C>G (p.Pro347Ala) c.952C>G (p.Pro318Ala) c.1045C>G (p.Pro349Ala) c.1036C>G (p.Pro346Ala) | |
| 11 | g.113412655G= | CA2001167960 | DRD2 | c.1039C= (p.Pro347=) c.952C= (p.Pro318=) c.1045C= (p.Pro349=) c.1036C= (p.Pro346=) | |
| 11 | g.113412655G>T | CA382649840 | DRD2 | c.1039C>A (p.Pro347Thr) c.952C>A (p.Pro318Thr) c.1045C>A (p.Pro349Thr) c.1036C>A (p.Pro346Thr) | |
| 11 | g.113412656C>A | CA382649841 | DRD2 | c.1038G>T (p.Met346Ile) c.951G>T (p.Met317Ile) c.1044G>T (p.Met348Ile) c.1035G>T (p.Met345Ile) | |
| 11 | g.113412656C>G | CA382649843 | DRD2 | c.1038G>C (p.Met346Ile) c.951G>C (p.Met317Ile) c.1044G>C (p.Met348Ile) c.1035G>C (p.Met345Ile) | |
| 11 | g.113412656C>T | CA382649845 | DRD2 | c.1038G>A (p.Met346Ile) c.951G>A (p.Met317Ile) c.1044G>A (p.Met348Ile) c.1035G>A (p.Met345Ile) | |
| 11 | g.113412657A= | CA2001167961 | DRD2 | c.1037T= (p.Met346=) c.950T= (p.Met317=) c.1043T= (p.Met348=) c.1034T= (p.Met345=) | |
| 11 | g.113412657A>C | CA382649847 | DRD2 | c.1037T>G (p.Met346Arg) c.950T>G (p.Met317Arg) c.1043T>G (p.Met348Arg) c.1034T>G (p.Met345Arg) | |
| 11 | g.113412657A>G | CA382649849 | DRD2 | c.1037T>C (p.Met346Thr) c.950T>C (p.Met317Thr) c.1043T>C (p.Met348Thr) c.1034T>C (p.Met345Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113412657A>T | CA382649851 | DRD2 | c.1037T>A (p.Met346Lys) c.950T>A (p.Met317Lys) c.1043T>A (p.Met348Lys) c.1034T>A (p.Met345Lys) | |
| 11 | g.113412658T>A | CA382649853 | DRD2 | c.1036A>T (p.Met346Leu) c.949A>T (p.Met317Leu) c.1042A>T (p.Met348Leu) c.1033A>T (p.Met345Leu) | |
| 11 | g.113412658T>C | CA382649856 | DRD2 | c.1036A>G (p.Met346Val) c.949A>G (p.Met317Val) c.1042A>G (p.Met348Val) c.1033A>G (p.Met345Val) | |
| 11 | g.113412658T>G | CA382649857 | DRD2 | c.1036A>C (p.Met346Leu) c.949A>C (p.Met317Leu) c.1042A>C (p.Met348Leu) c.1033A>C (p.Met345Leu) | |
| 11 | g.113412659G>A | CA477043090 | DRD2 | c.1035C>T (p.Thr345=) c.948C>T (p.Thr316=) c.1041C>T (p.Thr347=) c.1032C>T (p.Thr344=) | |
| 11 | g.113412659G>C | CA477043089 | DRD2 | c.1035C>G (p.Thr345=) c.948C>G (p.Thr316=) c.1041C>G (p.Thr347=) c.1032C>G (p.Thr344=) | |
| 11 | g.113412659G>T | CA477043088 | DRD2 | c.1035C>A (p.Thr345=) c.948C>A (p.Thr316=) c.1041C>A (p.Thr347=) c.1032C>A (p.Thr344=) | |
| 11 | g.113412660G>A | CA382649860 | DRD2 | c.1034C>T (p.Thr345Ile) c.947C>T (p.Thr316Ile) c.1040C>T (p.Thr347Ile) c.1031C>T (p.Thr344Ile) | |
| 11 | g.113412660G>C | CA382649858 | DRD2 | c.1034C>G (p.Thr345Ser) c.947C>G (p.Thr316Ser) c.1040C>G (p.Thr347Ser) c.1031C>G (p.Thr344Ser) | |
| 11 | g.113412660G>T | CA382649859 | DRD2 | c.1034C>A (p.Thr345Asn) c.947C>A (p.Thr316Asn) c.1040C>A (p.Thr347Asn) c.1031C>A (p.Thr344Asn) | dbSNP COSMIC COSMIC |
| 11 | g.113412661T>A | CA382649862 | DRD2 | c.1033A>T (p.Thr345Ser) c.946A>T (p.Thr316Ser) c.1039A>T (p.Thr347Ser) c.1030A>T (p.Thr344Ser) | |
| 11 | g.113412661T>C | CA382649864 | DRD2 | c.1033A>G (p.Thr345Ala) c.946A>G (p.Thr316Ala) c.1039A>G (p.Thr347Ala) c.1030A>G (p.Thr344Ala) | |
| 11 | g.113412661T>G | CA382649865 | DRD2 | c.1033A>C (p.Thr345Pro) c.946A>C (p.Thr316Pro) c.1039A>C (p.Thr347Pro) c.1030A>C (p.Thr344Pro) | |
| 11 | g.113412662C>A | CA382649867 | DRD2 | c.1032G>T (p.Gln344His) c.945G>T (p.Gln315His) c.1038G>T (p.Gln346His) c.1029G>T (p.Gln343His) | |
| 11 | g.113412662C>G | CA382649869 | DRD2 | c.1032G>C (p.Gln344His) c.945G>C (p.Gln315His) c.1038G>C (p.Gln346His) c.1029G>C (p.Gln343His) | |
| 11 | g.113412662C>T | CA477043091 | DRD2 | c.1032G>A (p.Gln344=) c.945G>A (p.Gln315=) c.1038G>A (p.Gln346=) c.1029G>A (p.Gln343=) | COSMIC COSMIC |