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.2527959A= | CA1948196756 | KCNQ1 | n.215A= c.157A= (p.Ser53=) c.418A= (p.Ser140=) c.37A= (p.Ser13=) c.64A= (p.Ser22=) n.287A= c.208A= (p.Ser70=) | |
| 11 | g.2527959A>C | CA379121364 | KCNQ1 | n.215A>C c.157A>C (p.Ser53Arg) c.418A>C (p.Ser140Arg) c.37A>C (p.Ser13Arg) c.64A>C (p.Ser22Arg) n.287A>C c.208A>C (p.Ser70Arg) | |
| 11 | g.2527959A>G | CA007037 | KCNQ1 | n.215A>G c.157A>G (p.Ser53Gly) c.418A>G (p.Ser140Gly) c.37A>G (p.Ser13Gly) c.64A>G (p.Ser22Gly) n.287A>G c.208A>G (p.Ser70Gly) | ClinVar dbSNP |
| 11 | g.2527959A>T | CA379121367 | KCNQ1 | n.215A>T c.157A>T (p.Ser53Cys) c.418A>T (p.Ser140Cys) c.37A>T (p.Ser13Cys) c.64A>T (p.Ser22Cys) n.287A>T c.208A>T (p.Ser70Cys) | |
| 11 | g.2527960G>A | CA379121368 | KCNQ1 | n.216G>A c.158G>A (p.Ser53Asn) c.419G>A (p.Ser140Asn) c.38G>A (p.Ser13Asn) c.65G>A (p.Ser22Asn) n.288G>A c.209G>A (p.Ser70Asn) | |
| 11 | g.2527960G>C | CA379121369 | KCNQ1 | n.216G>C c.158G>C (p.Ser53Thr) c.419G>C (p.Ser140Thr) c.38G>C (p.Ser13Thr) c.65G>C (p.Ser22Thr) n.288G>C c.209G>C (p.Ser70Thr) | |
| 11 | g.2527960G>T | CA379121370 | KCNQ1 | n.216G>T c.158G>T (p.Ser53Ile) c.419G>T (p.Ser140Ile) c.38G>T (p.Ser13Ile) c.65G>T (p.Ser22Ile) n.288G>T c.209G>T (p.Ser70Ile) | |
| 11 | g.2527961C>A | CA379121372 | KCNQ1 | n.217C>A c.159C>A (p.Ser53Arg) c.420C>A (p.Ser140Arg) c.39C>A (p.Ser13Arg) c.66C>A (p.Ser22Arg) n.289C>A c.210C>A (p.Ser70Arg) | ClinVar |
| 11 | g.2527961C= | CA1948196757 | KCNQ1 | n.217C= c.159C= (p.Ser53=) c.420C= (p.Ser140=) c.39C= (p.Ser13=) c.66C= (p.Ser22=) n.289C= c.210C= (p.Ser70=) | |
| 11 | g.2527961C>G | CA379121375 | KCNQ1 | n.217C>G c.159C>G (p.Ser53Arg) c.420C>G (p.Ser140Arg) c.39C>G (p.Ser13Arg) c.66C>G (p.Ser22Arg) n.289C>G c.210C>G (p.Ser70Arg) | |
| 11 | g.2527961C>T | CA037102 | KCNQ1 | n.217C>T c.159C>T (p.Ser53=) c.420C>T (p.Ser140=) c.39C>T (p.Ser13=) c.66C>T (p.Ser22=) n.289C>T c.210C>T (p.Ser70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2527962G>A | CA007045 | KCNQ1 | n.218G>A c.160G>A (p.Val54Met) c.421G>A (p.Val141Met) c.40G>A (p.Val14Met) c.67G>A (p.Val23Met) n.290G>A c.211G>A (p.Val71Met) | ClinVar dbSNP |
| 11 | g.2527962G>C | CA379121377 | KCNQ1 | n.218G>C c.160G>C (p.Val54Leu) c.421G>C (p.Val141Leu) c.40G>C (p.Val14Leu) c.67G>C (p.Val23Leu) n.290G>C c.211G>C (p.Val71Leu) | |
| 11 | g.2527962G= | CA1948196758 | KCNQ1 | n.218G= c.160G= (p.Val54=) c.421G= (p.Val141=) c.40G= (p.Val14=) c.67G= (p.Val23=) n.290G= c.211G= (p.Val71=) | |
| 11 | g.2527962G>T | CA379121378 | KCNQ1 | n.218G>T c.160G>T (p.Val54Leu) c.421G>T (p.Val141Leu) c.40G>T (p.Val14Leu) c.67G>T (p.Val23Leu) n.290G>T c.211G>T (p.Val71Leu) | |
| 11 | g.2527963T>A | CA379121379 | KCNQ1 | n.219T>A c.161T>A (p.Val54Glu) c.422T>A (p.Val141Glu) c.41T>A (p.Val14Glu) c.68T>A (p.Val23Glu) n.291T>A c.212T>A (p.Val71Glu) | |
| 11 | g.2527963T>C | CA379121382 | KCNQ1 | n.219T>C c.161T>C (p.Val54Ala) c.422T>C (p.Val141Ala) c.41T>C (p.Val14Ala) c.68T>C (p.Val23Ala) n.291T>C c.212T>C (p.Val71Ala) | |
| 11 | g.2527963T>G | CA379121384 | KCNQ1 | n.219T>G c.161T>G (p.Val54Gly) c.422T>G (p.Val141Gly) c.41T>G (p.Val14Gly) c.68T>G (p.Val23Gly) n.291T>G c.212T>G (p.Val71Gly) | |
| 11 | g.2527964G>A | CA472038233 | KCNQ1 | n.220G>A c.162G>A (p.Val54=) c.423G>A (p.Val141=) c.42G>A (p.Val14=) c.69G>A (p.Val23=) n.292G>A c.213G>A (p.Val71=) | |
| 11 | g.2527964G>C | CA472038234 | KCNQ1 | n.220G>C c.162G>C (p.Val54=) c.423G>C (p.Val141=) c.42G>C (p.Val14=) c.69G>C (p.Val23=) n.292G>C c.213G>C (p.Val71=) | |
| 11 | g.2527964G>T | CA472038235 | KCNQ1 | n.220G>T c.162G>T (p.Val54=) c.423G>T (p.Val141=) c.42G>T (p.Val14=) c.69G>T (p.Val23=) n.292G>T c.213G>T (p.Val71=) | |
| 11 | g.2527966_2527980del | CA2612002633 | KCNQ1 | c.164_178del (p.Leu55_Glu59del) c.425_439del (p.Leu142_Glu146del) c.44_58del (p.Leu15_Glu19del) c.71_85del (p.Leu24_Glu28del) | gnomAD v4 |
| 11 | g.2527965C>A | CA379121386 | KCNQ1 | n.221C>A c.163C>A (p.Leu55Met) c.424C>A (p.Leu142Met) c.43C>A (p.Leu15Met) c.70C>A (p.Leu24Met) n.293C>A c.214C>A (p.Leu72Met) | |
| 11 | g.2527965C>G | CA379121388 | KCNQ1 | n.221C>G c.163C>G (p.Leu55Val) c.424C>G (p.Leu142Val) c.43C>G (p.Leu15Val) c.70C>G (p.Leu24Val) n.293C>G c.214C>G (p.Leu72Val) | |
| 11 | g.2527965C>T | CA472038236 | KCNQ1 | n.221C>T c.163C>T (p.Leu55=) c.424C>T (p.Leu142=) c.43C>T (p.Leu15=) c.70C>T (p.Leu24=) n.293C>T c.214C>T (p.Leu72=) | |
| 11 | g.2527965_2527966delinsCT | CA1948196759 | KCNQ1 | n.221_222delinsCT c.163_164delinsCT (p.Leu55=) c.424_425delinsCT (p.Leu142=) c.43_44delinsCT (p.Leu15=) c.70_71delinsCT (p.Leu24=) n.293_294delinsCT c.214_215delinsCT (p.Leu72=) | |
| 11 | g.2527966del | CA007054 | KCNQ1 | n.222del c.164del (p.Leu55ArgfsTer?) c.425del (p.Leu142ArgfsTer?) c.44del (p.Leu15ArgfsTer?) c.71del (p.Leu24ArgfsTer?) n.294del c.215del (p.Leu72ArgfsTer?) | ClinVar dbSNP |
| 11 | g.2527966T>A | CA379121391 | KCNQ1 | n.222T>A c.164T>A (p.Leu55Gln) c.425T>A (p.Leu142Gln) c.44T>A (p.Leu15Gln) c.71T>A (p.Leu24Gln) n.294T>A c.215T>A (p.Leu72Gln) | |
| 11 | g.2527966T>C | CA379121401 | KCNQ1 | n.222T>C c.164T>C (p.Leu55Pro) c.425T>C (p.Leu142Pro) c.44T>C (p.Leu15Pro) c.71T>C (p.Leu24Pro) n.294T>C c.215T>C (p.Leu72Pro) | |
| 11 | g.2527966T>G | CA379121404 | KCNQ1 | n.222T>G c.164T>G (p.Leu55Arg) c.425T>G (p.Leu142Arg) c.44T>G (p.Leu15Arg) c.71T>G (p.Leu24Arg) n.294T>G c.215T>G (p.Leu72Arg) | |
| 11 | g.2527967G>A | CA472038237 | KCNQ1 | n.223G>A c.165G>A (p.Leu55=) c.426G>A (p.Leu142=) c.45G>A (p.Leu15=) c.72G>A (p.Leu24=) n.295G>A c.216G>A (p.Leu72=) | ClinVar |
| 11 | g.2527967G>C | CA472038239 | KCNQ1 | n.223G>C c.165G>C (p.Leu55=) c.426G>C (p.Leu142=) c.45G>C (p.Leu15=) c.72G>C (p.Leu24=) n.295G>C c.216G>C (p.Leu72=) | ClinVar gnomAD v4 |
| 11 | g.2527967G>T | CA472038238 | KCNQ1 | n.223G>T c.165G>T (p.Leu55=) c.426G>T (p.Leu142=) c.45G>T (p.Leu15=) c.72G>T (p.Leu24=) n.295G>T c.216G>T (p.Leu72=) | |
| 11 | g.2527968T>A | CA379121409 | KCNQ1 | n.224T>A c.166T>A (p.Ser56Thr) c.427T>A (p.Ser143Thr) c.46T>A (p.Ser16Thr) c.73T>A (p.Ser25Thr) n.296T>A c.217T>A (p.Ser73Thr) | |
| 11 | g.2527968T>C | CA379121411 | KCNQ1 | n.224T>C c.166T>C (p.Ser56Pro) c.427T>C (p.Ser143Pro) c.46T>C (p.Ser16Pro) c.73T>C (p.Ser25Pro) n.296T>C c.217T>C (p.Ser73Pro) | |
| 11 | g.2527968T>G | CA379121413 | KCNQ1 | n.224T>G c.166T>G (p.Ser56Ala) c.427T>G (p.Ser143Ala) c.46T>G (p.Ser16Ala) c.73T>G (p.Ser25Ala) n.296T>G c.217T>G (p.Ser73Ala) | |
| 11 | g.2527969C>A | CA379121417 | KCNQ1 | n.225C>A c.167C>A (p.Ser56Tyr) c.428C>A (p.Ser143Tyr) c.47C>A (p.Ser16Tyr) c.74C>A (p.Ser25Tyr) n.297C>A c.218C>A (p.Ser73Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2527969C= | CA1948196760 | KCNQ1 | n.225C= c.167C= (p.Ser56=) c.428C= (p.Ser143=) c.47C= (p.Ser16=) c.74C= (p.Ser25=) n.297C= c.218C= (p.Ser73=) | |
| 11 | g.2527969C>G | CA379121419 | KCNQ1 | n.225C>G c.167C>G (p.Ser56Cys) c.428C>G (p.Ser143Cys) c.47C>G (p.Ser16Cys) c.74C>G (p.Ser25Cys) n.297C>G c.218C>G (p.Ser73Cys) | |
| 11 | g.2527969C>T | CA007061 | KCNQ1 | n.225C>T c.167C>T (p.Ser56Phe) c.428C>T (p.Ser143Phe) c.47C>T (p.Ser16Phe) c.74C>T (p.Ser25Phe) n.297C>T c.218C>T (p.Ser73Phe) | ClinVar dbSNP |
| 11 | g.2527970C>A | CA472038240 | KCNQ1 | n.226C>A c.168C>A (p.Ser56=) c.429C>A (p.Ser143=) c.48C>A (p.Ser16=) c.75C>A (p.Ser25=) n.298C>A c.219C>A (p.Ser73=) | |
| 11 | g.2527970C>G | CA472038241 | KCNQ1 | n.226C>G c.168C>G (p.Ser56=) c.429C>G (p.Ser143=) c.48C>G (p.Ser16=) c.75C>G (p.Ser25=) n.298C>G c.219C>G (p.Ser73=) | |
| 11 | g.2527970C>T | CA472038242 | KCNQ1 | n.226C>T c.168C>T (p.Ser56=) c.429C>T (p.Ser143=) c.48C>T (p.Ser16=) c.75C>T (p.Ser25=) n.298C>T c.219C>T (p.Ser73=) | |
| 11 | g.2527971A= | CA1948196761 | KCNQ1 | n.227A= c.169A= (p.Thr57=) c.430A= (p.Thr144=) c.49A= (p.Thr17=) c.76A= (p.Thr26=) n.299A= c.220A= (p.Thr74=) | |
| 11 | g.2527971A>C | CA379121423 | KCNQ1 | n.227A>C c.169A>C (p.Thr57Pro) c.430A>C (p.Thr144Pro) c.49A>C (p.Thr17Pro) c.76A>C (p.Thr26Pro) n.299A>C c.220A>C (p.Thr74Pro) | |
| 11 | g.2527971A>G | CA007072 | KCNQ1 | n.227A>G c.169A>G (p.Thr57Ala) c.430A>G (p.Thr144Ala) c.49A>G (p.Thr17Ala) c.76A>G (p.Thr26Ala) n.299A>G c.220A>G (p.Thr74Ala) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2527971A>T | CA379121424 | KCNQ1 | n.227A>T c.169A>T (p.Thr57Ser) c.430A>T (p.Thr144Ser) c.49A>T (p.Thr17Ser) c.76A>T (p.Thr26Ser) n.299A>T c.220A>T (p.Thr74Ser) | |
| 11 | g.2527972C>A | CA379121427 | KCNQ1 | n.228C>A c.170C>A (p.Thr57Asn) c.431C>A (p.Thr144Asn) c.50C>A (p.Thr17Asn) c.77C>A (p.Thr26Asn) n.300C>A c.221C>A (p.Thr74Asn) | |
| 11 | g.2527972C>G | CA379121433 | KCNQ1 | n.228C>G c.170C>G (p.Thr57Ser) c.431C>G (p.Thr144Ser) c.50C>G (p.Thr17Ser) c.77C>G (p.Thr26Ser) n.300C>G c.221C>G (p.Thr74Ser) | |
| 11 | g.2527972C>T | CA379121429 | KCNQ1 | n.228C>T c.170C>T (p.Thr57Ile) c.431C>T (p.Thr144Ile) c.50C>T (p.Thr17Ile) c.77C>T (p.Thr26Ile) n.300C>T c.221C>T (p.Thr74Ile) |