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.37805018_37805020delinsATC | CA2695233196 | CYBB | c.*673_*675delinsATC (n.*673_*675delinsATC) c.1068_1070delinsATC (p.Asp356_Gly357delinsGluSer) c.1164_1166delinsATC (p.Asp388_Gly389delinsGluSer) c.171+379018_171+379020delinsATC (n.171+379018_171+379020delinsATC) c.858_860delinsATC (p.Asp286_Gly287delinsGluSer) | |
| X | g.37805021del | CA2695233197 | CYBB | c.*676del (n.*676del) c.1071del (p.Phe359LeufsTer14) c.1167del (p.Phe391LeufsTer14) c.171+379021del (n.171+379021del) c.861del (p.Phe289LeufsTer14) | |
| X | g.37805020G>A | CA219677 | CYBB | c.*675G>A (n.*675G>A) c.1070G>A (p.Gly357Glu) c.1166G>A (p.Gly389Glu) c.171+379020G>A (n.171+379020G>A) c.860G>A (p.Gly287Glu) | ClinVar dbSNP |
| X | g.37805020G>C | CA121232 | CYBB | c.*675G>C (n.*675G>C) c.1070G>C (p.Gly357Ala) c.1166G>C (p.Gly389Ala) c.171+379020G>C (n.171+379020G>C) c.860G>C (p.Gly287Ala) | ClinVar dbSNP |
| X | g.37805020G= | CA2424683353 | CYBB | c.*675G= (n.*675G=) c.1070G= (p.Gly357=) c.1166G= (p.Gly389=) c.171+379020G= (n.171+379020G=) c.860G= (p.Gly287=) | |
| X | g.37805020G>T | CA412977635 | CYBB | c.*675G>T (n.*675G>T) c.1070G>T (p.Gly357Val) c.1166G>T (p.Gly389Val) c.171+379020G>T (n.171+379020G>T) c.860G>T (p.Gly287Val) | |
| X | g.37805020_37805023delinsTGTTCAG | CA2695233198 | CYBB | c.*675_*678delinsTGTTCAG (n.*675_*678delinsTGTTCAG) c.1070_1073delinsTGTTCAG (p.Gly357_Pro358delinsValPheSer) c.1166_1169delinsTGTTCAG (p.Gly389_Pro390delinsValPheSer) c.171+379020_171+379023delinsTGTTCAG (n.171+379020_171+379023delinsTGTTCAG) c.860_863delinsTGTTCAG (p.Gly287_Pro288delinsValPheSer) | |
| X | g.37805021G>A | CA515677320 | CYBB | c.*676G>A (n.*676G>A) c.1071G>A (p.Gly357=) c.1167G>A (p.Gly389=) c.171+379021G>A (n.171+379021G>A) c.861G>A (p.Gly287=) | gnomAD v4 |
| X | g.37805021G>C | CA515677323 | CYBB | c.*676G>C (n.*676G>C) c.1071G>C (p.Gly357=) c.1167G>C (p.Gly389=) c.171+379021G>C (n.171+379021G>C) c.861G>C (p.Gly287=) | |
| X | g.37805021G>T | CA515677325 | CYBB | c.*676G>T (n.*676G>T) c.1071G>T (p.Gly357=) c.1167G>T (p.Gly389=) c.171+379021G>T (n.171+379021G>T) c.861G>T (p.Gly287=) | |
| X | g.37805024_37805036del | CA2695233199 | CYBB | c.*679_*691del (n.*679_*691del) c.1074_1086del (p.Phe359ValfsTer10) c.1170_1182del (p.Phe391ValfsTer10) c.171+379024_171+379036del (n.171+379024_171+379036del) c.864_876del (p.Phe289ValfsTer10) | |
| X | g.37805022C>A | CA412977636 | CYBB | c.*677C>A (n.*677C>A) c.1072C>A (p.Pro358Thr) c.1168C>A (p.Pro390Thr) c.171+379022C>A (n.171+379022C>A) c.862C>A (p.Pro288Thr) | |
| X | g.37805022C>G | CA412977637 | CYBB | c.*677C>G (n.*677C>G) c.1072C>G (p.Pro358Ala) c.1168C>G (p.Pro390Ala) c.171+379022C>G (n.171+379022C>G) c.862C>G (p.Pro288Ala) | |
| X | g.37805022C>T | CA412977638 | CYBB | c.*677C>T (n.*677C>T) c.1072C>T (p.Pro358Ser) c.1168C>T (p.Pro390Ser) c.171+379022C>T (n.171+379022C>T) c.862C>T (p.Pro288Ser) | |
| X | g.37805024del | CA2695233200 | CYBB | c.*679del (n.*679del) c.1074del (p.Phe359LeufsTer14) c.1170del (p.Phe391LeufsTer14) c.171+379024del (n.171+379024del) c.864del (p.Phe289LeufsTer14) | |
| X | g.37805023C>A | CA412977639 | CYBB | c.*678C>A (n.*678C>A) c.1073C>A (p.Pro358His) c.1169C>A (p.Pro390His) c.171+379023C>A (n.171+379023C>A) c.863C>A (p.Pro288His) | |
| X | g.37805023C= | CA2424683354 | CYBB | c.*678C= (n.*678C=) c.1073C= (p.Pro358=) c.1169C= (p.Pro390=) c.171+379023C= (n.171+379023C=) c.863C= (p.Pro288=) | |
| X | g.37805023C>G | CA412977640 | CYBB | c.*678C>G (n.*678C>G) c.1073C>G (p.Pro358Arg) c.1169C>G (p.Pro390Arg) c.171+379023C>G (n.171+379023C>G) c.863C>G (p.Pro288Arg) | |
| X | g.37805023C>T | CA412977641 | CYBB | c.*678C>T (n.*678C>T) c.1073C>T (p.Pro358Leu) c.1169C>T (p.Pro390Leu) c.171+379023C>T (n.171+379023C>T) c.863C>T (p.Pro288Leu) | ClinVar dbSNP |
| X | g.37805024C>A | CA515677337 | CYBB | c.*679C>A (n.*679C>A) c.1074C>A (p.Pro358=) c.1170C>A (p.Pro390=) c.171+379024C>A (n.171+379024C>A) c.864C>A (p.Pro288=) | |
| X | g.37805024C= | CA2424683355 | CYBB | c.*679C= (n.*679C=) c.1074C= (p.Pro358=) c.1170C= (p.Pro390=) c.171+379024C= (n.171+379024C=) c.864C= (p.Pro288=) | |
| X | g.37805024C>G | CA515677339 | CYBB | c.*679C>G (n.*679C>G) c.1074C>G (p.Pro358=) c.1170C>G (p.Pro390=) c.171+379024C>G (n.171+379024C>G) c.864C>G (p.Pro288=) | |
| X | g.37805024C>T | CA515677342 | CYBB | c.*679C>T (n.*679C>T) c.1074C>T (p.Pro358=) c.1170C>T (p.Pro390=) c.171+379024C>T (n.171+379024C>T) c.864C>T (p.Pro288=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.37805025T>A | CA412977642 | CYBB | c.*680T>A (n.*680T>A) c.1075T>A (p.Phe359Ile) c.1171T>A (p.Phe391Ile) c.171+379025T>A (n.171+379025T>A) c.865T>A (p.Phe289Ile) | |
| X | g.37805025T>C | CA412977643 | CYBB | c.*680T>C (n.*680T>C) c.1075T>C (p.Phe359Leu) c.1171T>C (p.Phe391Leu) c.171+379025T>C (n.171+379025T>C) c.865T>C (p.Phe289Leu) | |
| X | g.37805025T>G | CA412977644 | CYBB | c.*680T>G (n.*680T>G) c.1075T>G (p.Phe359Val) c.1171T>G (p.Phe391Val) c.171+379025T>G (n.171+379025T>G) c.865T>G (p.Phe289Val) | |
| X | g.37805026T>A | CA412977646 | CYBB | c.*681T>A (n.*681T>A) c.1076T>A (p.Phe359Tyr) c.1172T>A (p.Phe391Tyr) c.171+379026T>A (n.171+379026T>A) c.866T>A (p.Phe289Tyr) | |
| X | g.37805026T>C | CA412977647 | CYBB | c.*681T>C (n.*681T>C) c.1076T>C (p.Phe359Ser) c.1172T>C (p.Phe391Ser) c.171+379026T>C (n.171+379026T>C) c.866T>C (p.Phe289Ser) | |
| X | g.37805026T>G | CA412977645 | CYBB | c.*681T>G (n.*681T>G) c.1076T>G (p.Phe359Cys) c.1172T>G (p.Phe391Cys) c.171+379026T>G (n.171+379026T>G) c.866T>G (p.Phe289Cys) | |
| X | g.37805027T>A | CA412977648 | CYBB | c.*682T>A (n.*682T>A) c.1077T>A (p.Phe359Leu) c.1173T>A (p.Phe391Leu) c.171+379027T>A (n.171+379027T>A) c.867T>A (p.Phe289Leu) | dbSNP |
| X | g.37805027T>C | CA10383848 | CYBB | c.*682T>C (n.*682T>C) c.1077T>C (p.Phe359=) c.1173T>C (p.Phe391=) c.171+379027T>C (n.171+379027T>C) c.867T>C (p.Phe289=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.37805027T>G | CA412977649 | CYBB | c.*682T>G (n.*682T>G) c.1077T>G (p.Phe359Leu) c.1173T>G (p.Phe391Leu) c.171+379027T>G (n.171+379027T>G) c.867T>G (p.Phe289Leu) | |
| X | g.37805027T= | CA2424683356 | CYBB | c.*682T= (n.*682T=) c.1077T= (p.Phe359=) c.1173T= (p.Phe391=) c.171+379027T= (n.171+379027T=) c.867T= (p.Phe289=) | |
| X | g.37805028G>A | CA412977650 | CYBB | c.*683G>A (n.*683G>A) c.1078G>A (p.Gly360Ser) c.1174G>A (p.Gly392Ser) c.171+379028G>A (n.171+379028G>A) c.868G>A (p.Gly290Ser) | |
| X | g.37805028G>C | CA412977651 | CYBB | c.*683G>C (n.*683G>C) c.1078G>C (p.Gly360Arg) c.1174G>C (p.Gly392Arg) c.171+379028G>C (n.171+379028G>C) c.868G>C (p.Gly290Arg) | |
| X | g.37805028G>T | CA412977652 | CYBB | c.*683G>T (n.*683G>T) c.1078G>T (p.Gly360Cys) c.1174G>T (p.Gly392Cys) c.171+379028G>T (n.171+379028G>T) c.868G>T (p.Gly290Cys) | |
| X | g.37805029G>A | CA412977653 | CYBB | c.*684G>A (n.*684G>A) c.1079G>A (p.Gly360Asp) c.1175G>A (p.Gly392Asp) c.171+379029G>A (n.171+379029G>A) c.869G>A (p.Gly290Asp) | COSMIC |
| X | g.37805029G>C | CA412977654 | CYBB | c.*684G>C (n.*684G>C) c.1079G>C (p.Gly360Ala) c.1175G>C (p.Gly392Ala) c.171+379029G>C (n.171+379029G>C) c.869G>C (p.Gly290Ala) | |
| X | g.37805029G>T | CA412977655 | CYBB | c.*684G>T (n.*684G>T) c.1079G>T (p.Gly360Val) c.1175G>T (p.Gly392Val) c.171+379029G>T (n.171+379029G>T) c.869G>T (p.Gly290Val) | |
| X | g.37805030C>A | CA515677371 | CYBB | c.*685C>A (n.*685C>A) c.1080C>A (p.Gly360=) c.1176C>A (p.Gly392=) c.171+379030C>A (n.171+379030C>A) c.870C>A (p.Gly290=) | |
| X | g.37805030C>G | CA515677373 | CYBB | c.*685C>G (n.*685C>G) c.1080C>G (p.Gly360=) c.1176C>G (p.Gly392=) c.171+379030C>G (n.171+379030C>G) c.870C>G (p.Gly290=) | |
| X | g.37805030C>T | CA515677376 | CYBB | c.*685C>T (n.*685C>T) c.1080C>T (p.Gly360=) c.1176C>T (p.Gly392=) c.171+379030C>T (n.171+379030C>T) c.870C>T (p.Gly290=) | gnomAD v4 |
| X | g.37805031del | CA2695233201 | CYBB | c.*686del (n.*686del) c.1081del (p.Thr361LeufsTer12) c.1177del (p.Thr393LeufsTer12) c.171+379031del (n.171+379031del) c.871del (p.Thr291LeufsTer12) | |
| X | g.37805031A>C | CA412977656 | CYBB | c.*686A>C (n.*686A>C) c.1081A>C (p.Thr361Pro) c.1177A>C (p.Thr393Pro) c.171+379031A>C (n.171+379031A>C) c.871A>C (p.Thr291Pro) | |
| X | g.37805031A>G | CA412977657 | CYBB | c.*686A>G (n.*686A>G) c.1081A>G (p.Thr361Ala) c.1177A>G (p.Thr393Ala) c.171+379031A>G (n.171+379031A>G) c.871A>G (p.Thr291Ala) | |
| X | g.37805031A>T | CA412977658 | CYBB | c.*686A>T (n.*686A>T) c.1081A>T (p.Thr361Ser) c.1177A>T (p.Thr393Ser) c.171+379031A>T (n.171+379031A>T) c.871A>T (p.Thr291Ser) | |
| X | g.37805032C>A | CA412977659 | CYBB | c.*687C>A (n.*687C>A) c.1082C>A (p.Thr361Asn) c.1178C>A (p.Thr393Asn) c.171+379032C>A (n.171+379032C>A) c.872C>A (p.Thr291Asn) | |
| X | g.37805032C>G | CA412977660 | CYBB | c.*687C>G (n.*687C>G) c.1082C>G (p.Thr361Ser) c.1178C>G (p.Thr393Ser) c.171+379032C>G (n.171+379032C>G) c.872C>G (p.Thr291Ser) | |
| X | g.37805032C>T | CA412977661 | CYBB | c.*687C>T (n.*687C>T) c.1082C>T (p.Thr361Ile) c.1178C>T (p.Thr393Ile) c.171+379032C>T (n.171+379032C>T) c.872C>T (p.Thr291Ile) | |
| X | g.37805033T>A | CA515677390 | CYBB | c.*688T>A (n.*688T>A) c.1083T>A (p.Thr361=) c.1179T>A (p.Thr393=) c.171+379033T>A (n.171+379033T>A) c.873T>A (p.Thr291=) |