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 |
|---|---|---|---|---|---|
| 8 | g.132175473C>A | CA372290332 | KCNQ3 | c.913G>T (p.Asp305Tyr) c.553G>T (p.Asp185Tyr) c.586G>T (p.Asp196Tyr) c.563G>T n.691G>T c.550G>T (p.Asp184Tyr) c.-244G>T (n.-244G>T) c.205G>T (p.Asp69Tyr) c.691G>T (p.Asp231Tyr) | ClinVar dbSNP |
| 8 | g.132175473C= | CA1820664522 | KCNQ3 | c.913G= (p.Asp305=) c.553G= (p.Asp185=) c.586G= (p.Asp196=) c.563G= n.691G= c.550G= (p.Asp184=) c.-244G= (n.-244G=) c.205G= (p.Asp69=) c.691G= (p.Asp231=) | |
| 8 | g.132175473C>G | CA372290333 | KCNQ3 | c.913G>C (p.Asp305His) c.553G>C (p.Asp185His) c.586G>C (p.Asp196His) c.563G>C n.691G>C c.550G>C (p.Asp184His) c.-244G>C (n.-244G>C) c.205G>C (p.Asp69His) c.691G>C (p.Asp231His) | |
| 8 | g.132175473C>T | CA372290334 | KCNQ3 | c.913G>A (p.Asp305Asn) c.553G>A (p.Asp185Asn) c.586G>A (p.Asp196Asn) c.563G>A n.691G>A c.550G>A (p.Asp184Asn) c.-244G>A (n.-244G>A) c.205G>A (p.Asp69Asn) c.691G>A (p.Asp231Asn) | |
| 8 | g.132175474T>A | CA463070357 | KCNQ3 | c.912A>T (p.Ala304=) c.552A>T (p.Ala184=) c.585A>T (p.Ala195=) c.562A>T n.690A>T c.549A>T (p.Ala183=) c.-245A>T (n.-245A>T) c.204A>T (p.Ala68=) c.690A>T (p.Ala230=) | |
| 8 | g.132175474T>C | CA4880816 | KCNQ3 | c.912A>G (p.Ala304=) c.552A>G (p.Ala184=) c.585A>G (p.Ala195=) c.562A>G n.690A>G c.549A>G (p.Ala183=) c.-245A>G (n.-245A>G) c.204A>G (p.Ala68=) c.690A>G (p.Ala230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175474T>G | CA463070358 | KCNQ3 | c.912A>C (p.Ala304=) c.552A>C (p.Ala184=) c.585A>C (p.Ala195=) c.562A>C n.690A>C c.549A>C (p.Ala183=) c.-245A>C (n.-245A>C) c.204A>C (p.Ala68=) c.690A>C (p.Ala230=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132175474T= | CA1820664523 | KCNQ3 | c.912A= (p.Ala304=) c.552A= (p.Ala184=) c.585A= (p.Ala195=) c.562A= n.690A= c.549A= (p.Ala183=) c.-245A= (n.-245A=) c.204A= (p.Ala68=) c.690A= (p.Ala230=) | |
| 8 | g.132175475G>A | CA372290337 | KCNQ3 | c.911C>T (p.Ala304Val) c.551C>T (p.Ala184Val) c.584C>T (p.Ala195Val) c.561C>T n.689C>T c.548C>T (p.Ala183Val) c.-246C>T (n.-246C>T) c.203C>T (p.Ala68Val) c.689C>T (p.Ala230Val) | |
| 8 | g.132175475G>C | CA372290335 | KCNQ3 | c.911C>G (p.Ala304Gly) c.551C>G (p.Ala184Gly) c.584C>G (p.Ala195Gly) c.561C>G n.689C>G c.548C>G (p.Ala183Gly) c.-246C>G (n.-246C>G) c.203C>G (p.Ala68Gly) c.689C>G (p.Ala230Gly) | gnomAD v4 |
| 8 | g.132175475G>T | CA372290336 | KCNQ3 | c.911C>A (p.Ala304Glu) c.551C>A (p.Ala184Glu) c.584C>A (p.Ala195Glu) c.561C>A n.689C>A c.548C>A (p.Ala183Glu) c.-246C>A (n.-246C>A) c.203C>A (p.Ala68Glu) c.689C>A (p.Ala230Glu) | gnomAD v4 |
| 8 | g.132175476C>A | CA372290338 | KCNQ3 | c.910G>T (p.Ala304Ser) c.550G>T (p.Ala184Ser) c.583G>T (p.Ala195Ser) c.560G>T n.688G>T c.547G>T (p.Ala183Ser) c.-247G>T (n.-247G>T) c.202G>T (p.Ala68Ser) c.688G>T (p.Ala230Ser) | |
| 8 | g.132175476C>G | CA372290339 | KCNQ3 | c.910G>C (p.Ala304Pro) c.550G>C (p.Ala184Pro) c.583G>C (p.Ala195Pro) c.560G>C n.688G>C c.547G>C (p.Ala183Pro) c.-247G>C (n.-247G>C) c.202G>C (p.Ala68Pro) c.688G>C (p.Ala230Pro) | |
| 8 | g.132175476C>T | CA372290340 | KCNQ3 | c.910G>A (p.Ala304Thr) c.550G>A (p.Ala184Thr) c.583G>A (p.Ala195Thr) c.560G>A n.688G>A c.547G>A (p.Ala183Thr) c.-247G>A (n.-247G>A) c.202G>A (p.Ala68Thr) c.688G>A (p.Ala230Thr) | |
| 8 | g.132175477A>C | CA372290341 | KCNQ3 | c.909T>G (p.Tyr303Ter) c.549T>G (p.Tyr183Ter) c.582T>G (p.Tyr194Ter) c.559T>G n.687T>G c.546T>G (p.Tyr182Ter) c.-248T>G (n.-248T>G) c.201T>G (p.Tyr67Ter) c.687T>G (p.Tyr229Ter) | |
| 8 | g.132175477A>G | CA463070359 | KCNQ3 | c.909T>C (p.Tyr303=) c.549T>C (p.Tyr183=) c.582T>C (p.Tyr194=) c.559T>C n.687T>C c.546T>C (p.Tyr182=) c.-248T>C (n.-248T>C) c.201T>C (p.Tyr67=) c.687T>C (p.Tyr229=) | |
| 8 | g.132175477A>T | CA372290342 | KCNQ3 | c.909T>A (p.Tyr303Ter) c.549T>A (p.Tyr183Ter) c.582T>A (p.Tyr194Ter) c.559T>A n.687T>A c.546T>A (p.Tyr182Ter) c.-248T>A (n.-248T>A) c.201T>A (p.Tyr67Ter) c.687T>A (p.Tyr229Ter) | |
| 8 | g.132175478T>A | CA372290343 | KCNQ3 | c.908A>T (p.Tyr303Phe) c.548A>T (p.Tyr183Phe) c.581A>T (p.Tyr194Phe) c.558A>T n.686A>T c.545A>T (p.Tyr182Phe) c.-249A>T (n.-249A>T) c.200A>T (p.Tyr67Phe) c.686A>T (p.Tyr229Phe) | |
| 8 | g.132175478T>C | CA372290344 | KCNQ3 | c.908A>G (p.Tyr303Cys) c.548A>G (p.Tyr183Cys) c.581A>G (p.Tyr194Cys) c.558A>G n.686A>G c.545A>G (p.Tyr182Cys) c.-249A>G (n.-249A>G) c.200A>G (p.Tyr67Cys) c.686A>G (p.Tyr229Cys) | |
| 8 | g.132175478T>G | CA372290345 | KCNQ3 | c.908A>C (p.Tyr303Ser) c.548A>C (p.Tyr183Ser) c.581A>C (p.Tyr194Ser) c.558A>C n.686A>C c.545A>C (p.Tyr182Ser) c.-249A>C (n.-249A>C) c.200A>C (p.Tyr67Ser) c.686A>C (p.Tyr229Ser) | |
| 8 | g.132175479A>C | CA372290346 | KCNQ3 | c.907T>G (p.Tyr303Asp) c.547T>G (p.Tyr183Asp) c.580T>G (p.Tyr194Asp) c.557T>G n.685T>G c.544T>G (p.Tyr182Asp) c.-250T>G (n.-250T>G) c.199T>G (p.Tyr67Asp) c.685T>G (p.Tyr229Asp) | |
| 8 | g.132175479A>G | CA372290347 | KCNQ3 | c.907T>C (p.Tyr303His) c.547T>C (p.Tyr183His) c.580T>C (p.Tyr194His) c.557T>C n.685T>C c.544T>C (p.Tyr182His) c.-250T>C (n.-250T>C) c.199T>C (p.Tyr67His) c.685T>C (p.Tyr229His) | |
| 8 | g.132175479A>T | CA372290348 | KCNQ3 | c.907T>A (p.Tyr303Asn) c.547T>A (p.Tyr183Asn) c.580T>A (p.Tyr194Asn) c.557T>A n.685T>A c.544T>A (p.Tyr182Asn) c.-250T>A (n.-250T>A) c.199T>A (p.Tyr67Asn) c.685T>A (p.Tyr229Asn) | |
| 8 | g.132175480G>A | CA463070360 | KCNQ3 | c.906C>T (p.Thr302=) c.546C>T (p.Thr182=) c.579C>T (p.Thr193=) c.556C>T n.684C>T c.543C>T (p.Thr181=) c.-251C>T (n.-251C>T) c.198C>T (p.Thr66=) c.684C>T (p.Thr228=) | |
| 8 | g.132175480G>C | CA463070361 | KCNQ3 | c.906C>G (p.Thr302=) c.546C>G (p.Thr182=) c.579C>G (p.Thr193=) c.556C>G n.684C>G c.543C>G (p.Thr181=) c.-251C>G (n.-251C>G) c.198C>G (p.Thr66=) c.684C>G (p.Thr228=) | |
| 8 | g.132175480G>T | CA463070362 | KCNQ3 | c.906C>A (p.Thr302=) c.546C>A (p.Thr182=) c.579C>A (p.Thr193=) c.556C>A n.684C>A c.543C>A (p.Thr181=) c.-251C>A (n.-251C>A) c.198C>A (p.Thr66=) c.684C>A (p.Thr228=) | |
| 8 | g.132175481G>A | CA372290349 | KCNQ3 | c.905C>T (p.Thr302Ile) c.545C>T (p.Thr182Ile) c.578C>T (p.Thr193Ile) c.555C>T n.683C>T c.542C>T (p.Thr181Ile) c.-252C>T (n.-252C>T) c.197C>T (p.Thr66Ile) c.683C>T (p.Thr228Ile) | |
| 8 | g.132175481G>C | CA372290350 | KCNQ3 | c.905C>G (p.Thr302Ser) c.545C>G (p.Thr182Ser) c.578C>G (p.Thr193Ser) c.555C>G n.683C>G c.542C>G (p.Thr181Ser) c.-252C>G (n.-252C>G) c.197C>G (p.Thr66Ser) c.683C>G (p.Thr228Ser) | |
| 8 | g.132175481G= | CA1820664524 | KCNQ3 | c.905C= (p.Thr302=) c.545C= (p.Thr182=) c.578C= (p.Thr193=) c.555C= n.683C= c.542C= (p.Thr181=) c.-252C= (n.-252C=) c.197C= (p.Thr66=) c.683C= (p.Thr228=) | |
| 8 | g.132175481G>T | CA186223485 | KCNQ3 | c.905C>A (p.Thr302Asn) c.545C>A (p.Thr182Asn) c.578C>A (p.Thr193Asn) c.555C>A n.683C>A c.542C>A (p.Thr181Asn) c.-252C>A (n.-252C>A) c.197C>A (p.Thr66Asn) c.683C>A (p.Thr228Asn) | dbSNP |
| 8 | g.132175482T>A | CA372290351 | KCNQ3 | c.904A>T (p.Thr302Ser) c.544A>T (p.Thr182Ser) c.577A>T (p.Thr193Ser) c.554A>T n.682A>T c.541A>T (p.Thr181Ser) c.-253A>T (n.-253A>T) c.196A>T (p.Thr66Ser) c.682A>T (p.Thr228Ser) | |
| 8 | g.132175482T>C | CA372290352 | KCNQ3 | c.904A>G (p.Thr302Ala) c.544A>G (p.Thr182Ala) c.577A>G (p.Thr193Ala) c.554A>G n.682A>G c.541A>G (p.Thr181Ala) c.-253A>G (n.-253A>G) c.196A>G (p.Thr66Ala) c.682A>G (p.Thr228Ala) | |
| 8 | g.132175482T>G | CA372290353 | KCNQ3 | c.904A>C (p.Thr302Pro) c.544A>C (p.Thr182Pro) c.577A>C (p.Thr193Pro) c.554A>C n.682A>C c.541A>C (p.Thr181Pro) c.-253A>C (n.-253A>C) c.196A>C (p.Thr66Pro) c.682A>C (p.Thr228Pro) | |
| 8 | g.132175483C>A | CA4880817 | KCNQ3 | c.903G>T (p.Glu301Asp) c.543G>T (p.Glu181Asp) c.576G>T (p.Glu192Asp) c.553G>T n.681G>T c.540G>T (p.Glu180Asp) c.-254G>T (n.-254G>T) c.195G>T (p.Glu65Asp) c.681G>T (p.Glu227Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132175483C= | CA1820664525 | KCNQ3 | c.903G= (p.Glu301=) c.543G= (p.Glu181=) c.576G= (p.Glu192=) c.553G= n.681G= c.540G= (p.Glu180=) c.-254G= (n.-254G=) c.195G= (p.Glu65=) c.681G= (p.Glu227=) | |
| 8 | g.132175483C>G | CA372290354 | KCNQ3 | c.903G>C (p.Glu301Asp) c.543G>C (p.Glu181Asp) c.576G>C (p.Glu192Asp) c.553G>C n.681G>C c.540G>C (p.Glu180Asp) c.-254G>C (n.-254G>C) c.195G>C (p.Glu65Asp) c.681G>C (p.Glu227Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132175483C>T | CA463070363 | KCNQ3 | c.903G>A (p.Glu301=) c.543G>A (p.Glu181=) c.576G>A (p.Glu192=) c.553G>A n.681G>A c.540G>A (p.Glu180=) c.-254G>A (n.-254G>A) c.195G>A (p.Glu65=) c.681G>A (p.Glu227=) | ClinVar dbSNP |
| 8 | g.132175484T>A | CA372290355 | KCNQ3 | c.902A>T (p.Glu301Val) c.542A>T (p.Glu181Val) c.575A>T (p.Glu192Val) c.552A>T n.680A>T c.539A>T (p.Glu180Val) c.-255A>T (n.-255A>T) c.194A>T (p.Glu65Val) c.680A>T (p.Glu227Val) | |
| 8 | g.132175484T>C | CA372290356 | KCNQ3 | c.902A>G (p.Glu301Gly) c.542A>G (p.Glu181Gly) c.575A>G (p.Glu192Gly) c.552A>G n.680A>G c.539A>G (p.Glu180Gly) c.-255A>G (n.-255A>G) c.194A>G (p.Glu65Gly) c.680A>G (p.Glu227Gly) | |
| 8 | g.132175484T>G | CA372290357 | KCNQ3 | c.902A>C (p.Glu301Ala) c.542A>C (p.Glu181Ala) c.575A>C (p.Glu192Ala) c.552A>C n.680A>C c.539A>C (p.Glu180Ala) c.-255A>C (n.-255A>C) c.194A>C (p.Glu65Ala) c.680A>C (p.Glu227Ala) | |
| 8 | g.132175485C>A | CA372290358 | KCNQ3 | c.901G>T (p.Glu301Ter) c.541G>T (p.Glu181Ter) c.574G>T (p.Glu192Ter) c.551G>T n.679G>T c.538G>T (p.Glu180Ter) c.-256G>T (n.-256G>T) c.193G>T (p.Glu65Ter) c.679G>T (p.Glu227Ter) | |
| 8 | g.132175485C>G | CA372290359 | KCNQ3 | c.901G>C (p.Glu301Gln) c.541G>C (p.Glu181Gln) c.574G>C (p.Glu192Gln) c.551G>C n.679G>C c.538G>C (p.Glu180Gln) c.-256G>C (n.-256G>C) c.193G>C (p.Glu65Gln) c.679G>C (p.Glu227Gln) | |
| 8 | g.132175485C>T | CA372290360 | KCNQ3 | c.901G>A (p.Glu301Lys) c.541G>A (p.Glu181Lys) c.574G>A (p.Glu192Lys) c.551G>A n.679G>A c.538G>A (p.Glu180Lys) c.-256G>A (n.-256G>A) c.193G>A (p.Glu65Lys) c.679G>A (p.Glu227Lys) | |
| 8 | g.132175486A>C | CA372290362 | KCNQ3 | c.900T>G (p.Phe300Leu) c.540T>G (p.Phe180Leu) c.573T>G (p.Phe191Leu) c.550T>G n.678T>G c.537T>G (p.Phe179Leu) c.-257T>G (n.-257T>G) c.192T>G (p.Phe64Leu) c.678T>G (p.Phe226Leu) | COSMIC |
| 8 | g.132175486A>G | CA463070364 | KCNQ3 | c.900T>C (p.Phe300=) c.540T>C (p.Phe180=) c.573T>C (p.Phe191=) c.550T>C n.678T>C c.537T>C (p.Phe179=) c.-257T>C (n.-257T>C) c.192T>C (p.Phe64=) c.678T>C (p.Phe226=) | gnomAD v4 |
| 8 | g.132175486A>T | CA372290361 | KCNQ3 | c.900T>A (p.Phe300Leu) c.540T>A (p.Phe180Leu) c.573T>A (p.Phe191Leu) c.550T>A n.678T>A c.537T>A (p.Phe179Leu) c.-257T>A (n.-257T>A) c.192T>A (p.Phe64Leu) c.678T>A (p.Phe226Leu) | |
| 8 | g.132175487A= | CA1820664526 | KCNQ3 | c.899T= (p.Phe300=) c.539T= (p.Phe180=) c.572T= (p.Phe191=) c.549T= n.677T= c.536T= (p.Phe179=) c.-258T= (n.-258T=) c.191T= (p.Phe64=) c.677T= (p.Phe226=) | |
| 8 | g.132175487A>C | CA372290363 | KCNQ3 | c.899T>G (p.Phe300Cys) c.539T>G (p.Phe180Cys) c.572T>G (p.Phe191Cys) c.549T>G n.677T>G c.536T>G (p.Phe179Cys) c.-258T>G (n.-258T>G) c.191T>G (p.Phe64Cys) c.677T>G (p.Phe226Cys) | ClinVar dbSNP |
| 8 | g.132175487A>G | CA372290365 | KCNQ3 | c.899T>C (p.Phe300Ser) c.539T>C (p.Phe180Ser) c.572T>C (p.Phe191Ser) c.549T>C n.677T>C c.536T>C (p.Phe179Ser) c.-258T>C (n.-258T>C) c.191T>C (p.Phe64Ser) c.677T>C (p.Phe226Ser) | ClinVar dbSNP |
| 8 | g.132175487A>T | CA372290364 | KCNQ3 | c.899T>A (p.Phe300Tyr) c.539T>A (p.Phe180Tyr) c.572T>A (p.Phe191Tyr) c.549T>A n.677T>A c.536T>A (p.Phe179Tyr) c.-258T>A (n.-258T>A) c.191T>A (p.Phe64Tyr) c.677T>A (p.Phe226Tyr) |