UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113412766G>A | CA6281229 | DRD2 | c.928C>T (p.Pro310Ser) c.841C>T (p.Pro281Ser) c.934C>T (p.Pro312Ser) c.925C>T (p.Pro309Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412766G>C | CA382650299 | DRD2 | c.928C>G (p.Pro310Ala) c.841C>G (p.Pro281Ala) c.934C>G (p.Pro312Ala) c.925C>G (p.Pro309Ala) | |
| 11 | g.113412766G= | CA2001168009 | DRD2 | c.928C= (p.Pro310=) c.841C= (p.Pro281=) c.934C= (p.Pro312=) c.925C= (p.Pro309=) | |
| 11 | g.113412766G>T | CA382650297 | DRD2 | c.928C>A (p.Pro310Thr) c.841C>A (p.Pro281Thr) c.934C>A (p.Pro312Thr) c.925C>A (p.Pro309Thr) | |
| 11 | g.113412767G>A | CA477043216 | DRD2 | c.927C>T (p.Asp309=) c.840C>T (p.Asp280=) c.933C>T (p.Asp311=) c.924C>T (p.Asp308=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113412767G>C | CA382650301 | DRD2 | c.927C>G (p.Asp309Glu) c.840C>G (p.Asp280Glu) c.933C>G (p.Asp311Glu) c.924C>G (p.Asp308Glu) | |
| 11 | g.113412767G= | CA2001168010 | DRD2 | c.927C= (p.Asp309=) c.840C= (p.Asp280=) c.933C= (p.Asp311=) c.924C= (p.Asp308=) | |
| 11 | g.113412767G>T | CA382650303 | DRD2 | c.927C>A (p.Asp309Glu) c.840C>A (p.Asp280Glu) c.933C>A (p.Asp311Glu) c.924C>A (p.Asp308Glu) | |
| 11 | g.113412768T>A | CA382650305 | DRD2 | c.926A>T (p.Asp309Val) c.839A>T (p.Asp280Val) c.932A>T (p.Asp311Val) c.923A>T (p.Asp308Val) | |
| 11 | g.113412768T>C | CA382650306 | DRD2 | c.926A>G (p.Asp309Gly) c.839A>G (p.Asp280Gly) c.932A>G (p.Asp311Gly) c.923A>G (p.Asp308Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412768T>G | CA382650308 | DRD2 | c.926A>C (p.Asp309Ala) c.839A>C (p.Asp280Ala) c.932A>C (p.Asp311Ala) c.923A>C (p.Asp308Ala) | dbSNP |
| 11 | g.113412768T= | CA2001168011 | DRD2 | c.926A= (p.Asp309=) c.839A= (p.Asp280=) c.932A= (p.Asp311=) c.923A= (p.Asp308=) | |
| 11 | g.113412769C>A | CA382650310 | DRD2 | c.925G>T (p.Asp309Tyr) c.838G>T (p.Asp280Tyr) c.931G>T (p.Asp311Tyr) c.922G>T (p.Asp308Tyr) | |
| 11 | g.113412769C= | CA2001168012 | DRD2 | c.925G= (p.Asp309=) c.838G= (p.Asp280=) c.931G= (p.Asp311=) c.922G= (p.Asp308=) | |
| 11 | g.113412769C>G | CA382650312 | DRD2 | c.925G>C (p.Asp309His) c.838G>C (p.Asp280His) c.931G>C (p.Asp311His) c.922G>C (p.Asp308His) | |
| 11 | g.113412769C>T | CA6281230 | DRD2 | c.925G>A (p.Asp309Asn) c.838G>A (p.Asp280Asn) c.931G>A (p.Asp311Asn) c.922G>A (p.Asp308Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412770G>A | CA6281231 | DRD2 | c.924C>T (p.Pro308=) c.837C>T (p.Pro279=) c.930C>T (p.Pro310=) c.921C>T (p.Pro307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412770G>C | CA477043220 | DRD2 | c.924C>G (p.Pro308=) c.837C>G (p.Pro279=) c.930C>G (p.Pro310=) c.921C>G (p.Pro307=) | |
| 11 | g.113412770G= | CA2001168013 | DRD2 | c.924C= (p.Pro308=) c.837C= (p.Pro279=) c.930C= (p.Pro310=) c.921C= (p.Pro307=) | |
| 11 | g.113412770G>T | CA477043221 | DRD2 | c.924C>A (p.Pro308=) c.837C>A (p.Pro279=) c.930C>A (p.Pro310=) c.921C>A (p.Pro307=) | |
| 11 | g.113412770_113412771insC | CA942360410 | DRD2 | c.923_924insG (p.Asp309ArgfsTer?) c.836_837insG (p.Asp280ArgfsTer?) c.929_930insG (p.Asp311ArgfsTer?) c.920_921insG (p.Asp308ArgfsTer?) | gnomAD v3 gnomAD v4 |
| 11 | g.113412771G>A | CA382650316 | DRD2 | c.923C>T (p.Pro308Leu) c.836C>T (p.Pro279Leu) c.929C>T (p.Pro310Leu) c.920C>T (p.Pro307Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113412771G>C | CA382650317 | DRD2 | c.923C>G (p.Pro308Arg) c.836C>G (p.Pro279Arg) c.929C>G (p.Pro310Arg) c.920C>G (p.Pro307Arg) | gnomAD v3 gnomAD v4 |
| 11 | g.113412771G= | CA2001168014 | DRD2 | c.923C= (p.Pro308=) c.836C= (p.Pro279=) c.929C= (p.Pro310=) c.920C= (p.Pro307=) | |
| 11 | g.113412771G>T | CA382650320 | DRD2 | c.923C>A (p.Pro308His) c.836C>A (p.Pro279His) c.929C>A (p.Pro310His) c.920C>A (p.Pro307His) | |
| 11 | g.113412772G>A | CA228625679 | DRD2 | c.922C>T (p.Pro308Ser) c.835C>T (p.Pro279Ser) c.928C>T (p.Pro310Ser) c.919C>T (p.Pro307Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412772G>C | CA382650323 | DRD2 | c.922C>G (p.Pro308Ala) c.835C>G (p.Pro279Ala) c.928C>G (p.Pro310Ala) c.919C>G (p.Pro307Ala) | |
| 11 | g.113412772G= | CA2001168015 | DRD2 | c.922C= (p.Pro308=) c.835C= (p.Pro279=) c.928C= (p.Pro310=) c.919C= (p.Pro307=) | |
| 11 | g.113412772G>T | CA382650321 | DRD2 | c.922C>A (p.Pro308Thr) c.835C>A (p.Pro279Thr) c.928C>A (p.Pro310Thr) c.919C>A (p.Pro307Thr) | |
| 11 | g.113412773G>A | CA477043224 | DRD2 | c.921C>T (p.Leu307=) c.834C>T (p.Leu278=) c.927C>T (p.Leu309=) c.918C>T (p.Leu306=) | gnomAD v4 |
| 11 | g.113412773G>C | CA477043226 | DRD2 | c.921C>G (p.Leu307=) c.834C>G (p.Leu278=) c.927C>G (p.Leu309=) c.918C>G (p.Leu306=) | |
| 11 | g.113412773G>T | CA477043229 | DRD2 | c.921C>A (p.Leu307=) c.834C>A (p.Leu278=) c.927C>A (p.Leu309=) c.918C>A (p.Leu306=) | gnomAD v3 gnomAD v4 |
| 11 | g.113412774A>C | CA382650325 | DRD2 | c.920T>G (p.Leu307Arg) c.833T>G (p.Leu278Arg) c.926T>G (p.Leu309Arg) c.917T>G (p.Leu306Arg) | |
| 11 | g.113412774A>G | CA382650326 | DRD2 | c.920T>C (p.Leu307Pro) c.833T>C (p.Leu278Pro) c.926T>C (p.Leu309Pro) c.917T>C (p.Leu306Pro) | |
| 11 | g.113412774A>T | CA382650327 | DRD2 | c.920T>A (p.Leu307His) c.833T>A (p.Leu278His) c.926T>A (p.Leu309His) c.917T>A (p.Leu306His) | |
| 11 | g.113412775G>A | CA382650330 | DRD2 | c.919C>T (p.Leu307Phe) c.832C>T (p.Leu278Phe) c.925C>T (p.Leu309Phe) c.916C>T (p.Leu306Phe) | |
| 11 | g.113412775G>C | CA382650331 | DRD2 | c.919C>G (p.Leu307Val) c.832C>G (p.Leu278Val) c.925C>G (p.Leu309Val) c.916C>G (p.Leu306Val) | gnomAD v4 |
| 11 | g.113412775G>T | CA382650332 | DRD2 | c.919C>A (p.Leu307Ile) c.832C>A (p.Leu278Ile) c.925C>A (p.Leu309Ile) c.916C>A (p.Leu306Ile) | |
| 11 | g.113412775_113412777del | CA942360420 | DRD2 | c.917_919del (p.Thr306_Leu307delinsIle) c.830_832del (p.Thr277_Leu278delinsIle) c.923_925del (p.Thr308_Leu309delinsIle) c.914_916del (p.Thr305_Leu306delinsIle) | gnomAD v3 gnomAD v4 |
| 11 | g.113412776A>C | CA477043236 | DRD2 | c.918T>G (p.Thr306=) c.831T>G (p.Thr277=) c.924T>G (p.Thr308=) c.915T>G (p.Thr305=) | |
| 11 | g.113412776A>G | CA477043237 | DRD2 | c.918T>C (p.Thr306=) c.831T>C (p.Thr277=) c.924T>C (p.Thr308=) c.915T>C (p.Thr305=) | gnomAD v3 gnomAD v4 |
| 11 | g.113412776A>T | CA477043238 | DRD2 | c.918T>A (p.Thr306=) c.831T>A (p.Thr277=) c.924T>A (p.Thr308=) c.915T>A (p.Thr305=) | |
| 11 | g.113412777G>A | CA382650336 | DRD2 | c.917C>T (p.Thr306Ile) c.830C>T (p.Thr277Ile) c.923C>T (p.Thr308Ile) c.914C>T (p.Thr305Ile) | dbSNP |
| 11 | g.113412777G>C | CA382650334 | DRD2 | c.917C>G (p.Thr306Ser) c.830C>G (p.Thr277Ser) c.923C>G (p.Thr308Ser) c.914C>G (p.Thr305Ser) | |
| 11 | g.113412777G= | CA2001168016 | DRD2 | c.917C= (p.Thr306=) c.830C= (p.Thr277=) c.923C= (p.Thr308=) c.914C= (p.Thr305=) | |
| 11 | g.113412777G>T | CA382650335 | DRD2 | c.917C>A (p.Thr306Asn) c.830C>A (p.Thr277Asn) c.923C>A (p.Thr308Asn) c.914C>A (p.Thr305Asn) | |
| 11 | g.113412778T>A | CA382650339 | DRD2 | c.916A>T (p.Thr306Ser) c.829A>T (p.Thr277Ser) c.922A>T (p.Thr308Ser) c.913A>T (p.Thr305Ser) | |
| 11 | g.113412778T>C | CA382650340 | DRD2 | c.916A>G (p.Thr306Ala) c.829A>G (p.Thr277Ala) c.922A>G (p.Thr308Ala) c.913A>G (p.Thr305Ala) | gnomAD v4 |
| 11 | g.113412778T>G | CA382650342 | DRD2 | c.916A>C (p.Thr306Pro) c.829A>C (p.Thr277Pro) c.922A>C (p.Thr308Pro) c.913A>C (p.Thr305Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113412778T= | CA2001168017 | DRD2 | c.916A= (p.Thr306=) c.829A= (p.Thr277=) c.922A= (p.Thr308=) c.913A= (p.Thr305=) |