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.17387719T>A | CA379774117 | KCNJ11 | c.145A>T (p.Ile49Phe) c.112A>T (p.Ile38Phe) c.373A>T (p.Ile125Phe) c.390A>T n.531A>T | |
| 11 | g.17387719T>C | CA379774119 | KCNJ11 | c.145A>G (p.Ile49Val) c.112A>G (p.Ile38Val) c.373A>G (p.Ile125Val) c.390A>G n.531A>G | |
| 11 | g.17387719T>G | CA379774121 | KCNJ11 | c.145A>C (p.Ile49Leu) c.112A>C (p.Ile38Leu) c.373A>C (p.Ile125Leu) c.390A>C n.531A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387719T= | CA1955119363 | KCNJ11 | c.145A= (p.Ile49=) c.112A= (p.Ile38=) c.373A= (p.Ile125=) c.390A= n.531A= | |
| 11 | g.17387720G>A | CA473515618 | KCNJ11 | c.144C>T (p.Ser48=) c.111C>T (p.Ser37=) c.372C>T (p.Ser124=) c.389C>T n.530C>T | |
| 11 | g.17387720G>C | CA473515619 | KCNJ11 | c.144C>G (p.Ser48=) c.111C>G (p.Ser37=) c.372C>G (p.Ser124=) c.389C>G n.530C>G | |
| 11 | g.17387720G>T | CA473515620 | KCNJ11 | c.144C>A (p.Ser48=) c.111C>A (p.Ser37=) c.372C>A (p.Ser124=) c.389C>A n.530C>A | |
| 11 | g.17387721G>A | CA379774123 | KCNJ11 | c.143C>T (p.Ser48Phe) c.110C>T (p.Ser37Phe) c.371C>T (p.Ser124Phe) c.388C>T n.529C>T | |
| 11 | g.17387721G>C | CA379774125 | KCNJ11 | c.143C>G (p.Ser48Cys) c.110C>G (p.Ser37Cys) c.371C>G (p.Ser124Cys) c.388C>G n.529C>G | |
| 11 | g.17387721G>T | CA379774127 | KCNJ11 | c.143C>A (p.Ser48Tyr) c.110C>A (p.Ser37Tyr) c.371C>A (p.Ser124Tyr) c.388C>A n.529C>A | |
| 11 | g.17387722A>C | CA379774132 | KCNJ11 | c.142T>G (p.Ser48Ala) c.109T>G (p.Ser37Ala) c.370T>G (p.Ser124Ala) c.387T>G n.528T>G | |
| 11 | g.17387722A>G | CA379774129 | KCNJ11 | c.142T>C (p.Ser48Pro) c.109T>C (p.Ser37Pro) c.370T>C (p.Ser124Pro) c.387T>C n.528T>C | |
| 11 | g.17387722A>T | CA379774131 | KCNJ11 | c.142T>A (p.Ser48Thr) c.109T>A (p.Ser37Thr) c.370T>A (p.Ser124Thr) c.387T>A n.528T>A | |
| 11 | g.17387723G>A | CA473515624 | KCNJ11 | c.141C>T (p.Phe47=) c.108C>T (p.Phe36=) c.369C>T (p.Phe123=) c.386C>T n.527C>T | |
| 11 | g.17387723G>C | CA379774134 | KCNJ11 | c.141C>G (p.Phe47Leu) c.108C>G (p.Phe36Leu) c.369C>G (p.Phe123Leu) c.386C>G n.527C>G | |
| 11 | g.17387723G= | CA1955119364 | KCNJ11 | c.141C= (p.Phe47=) c.108C= (p.Phe36=) c.369C= (p.Phe123=) c.386C= n.527C= | |
| 11 | g.17387723G>T | CA379774135 | KCNJ11 | c.141C>A (p.Phe47Leu) c.108C>A (p.Phe36Leu) c.369C>A (p.Phe123Leu) c.386C>A n.527C>A | |
| 11 | g.17387724A>C | CA379774137 | KCNJ11 | c.140T>G (p.Phe47Cys) c.107T>G (p.Phe36Cys) c.368T>G (p.Phe123Cys) c.385T>G n.526T>G | |
| 11 | g.17387724A>G | CA379774139 | KCNJ11 | c.140T>C (p.Phe47Ser) c.107T>C (p.Phe36Ser) c.368T>C (p.Phe123Ser) c.385T>C n.526T>C | |
| 11 | g.17387724A>T | CA379774141 | KCNJ11 | c.140T>A (p.Phe47Tyr) c.107T>A (p.Phe36Tyr) c.368T>A (p.Phe123Tyr) c.385T>A n.526T>A | |
| 11 | g.17387727dup | CA658797595 | KCNJ11 | c.140dup (p.Ser48LeufsTer3) c.107dup (p.Ser37LeufsTer3) c.368dup (p.Ser124LeufsTer3) c.385dup n.526dup | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387725A= | CA1955119365 | KCNJ11 | c.139T= (p.Phe47=) c.106T= (p.Phe36=) c.367T= (p.Phe123=) c.384T= n.525T= | |
| 11 | g.17387725A>C | CA379774143 | KCNJ11 | c.139T>G (p.Phe47Val) c.106T>G (p.Phe36Val) c.367T>G (p.Phe123Val) c.384T>G n.525T>G | |
| 11 | g.17387725A>G | CA379774145 | KCNJ11 | c.139T>C (p.Phe47Leu) c.106T>C (p.Phe36Leu) c.367T>C (p.Phe123Leu) c.384T>C n.525T>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387725A>T | CA379774147 | KCNJ11 | c.139T>A (p.Phe47Ile) c.106T>A (p.Phe36Ile) c.367T>A (p.Phe123Ile) c.384T>A n.525T>A | |
| 11 | g.17387725_17387729delinsAAAGG | CA1955119366 | KCNJ11 | c.135_139delinsCCTTT (p.Phe45=) c.102_106delinsCCTTT (p.Phe34=) c.363_367delinsCCTTT (p.Phe121=) c.380_384delinsCCTTT n.521_525delinsCCTTT | |
| 11 | g.17387727_17387731del | CA912971884 | KCNJ11 | c.135_139del (p.Phe47HisfsTer2) c.102_106del (p.Phe36HisfsTer2) c.363_367del (p.Phe123HisfsTer2) c.380_384del n.521_525del | |
| 11 | g.17387726_17387751del | CA2695213246 | KCNJ11 | c.114_139del (p.His39LeufsTer3) c.81_106del (p.His28LeufsTer3) c.342_367del (p.His115LeufsTer3) c.359_384del n.500_525del | |
| 11 | g.17387726A>C | CA473515627 | KCNJ11 | c.138T>G (p.Leu46=) c.105T>G (p.Leu35=) c.366T>G (p.Leu122=) c.383T>G n.524T>G | |
| 11 | g.17387726A>G | CA473515628 | KCNJ11 | c.138T>C (p.Leu46=) c.105T>C (p.Leu35=) c.366T>C (p.Leu122=) c.383T>C n.524T>C | gnomAD v4 |
| 11 | g.17387726A>T | CA473515629 | KCNJ11 | c.138T>A (p.Leu46=) c.105T>A (p.Leu35=) c.366T>A (p.Leu122=) c.383T>A n.524T>A | |
| 11 | g.17387730_17387733del | CA658822455 | KCNJ11 | c.135_138del (p.Leu46SerfsTer7) c.102_105del (p.Leu35SerfsTer7) c.363_366del (p.Leu122SerfsTer7) c.380_383del n.521_524del | ClinVar dbSNP |
| 11 | g.17387727A= | CA1955119367 | KCNJ11 | c.137T= (p.Leu46=) c.104T= (p.Leu35=) c.365T= (p.Leu122=) c.382T= n.523T= | |
| 11 | g.17387727A>C | CA379774148 | KCNJ11 | c.137T>G (p.Leu46Arg) c.104T>G (p.Leu35Arg) c.365T>G (p.Leu122Arg) c.382T>G n.523T>G | COSMIC |
| 11 | g.17387727A>G | CA379774149 | KCNJ11 | c.137T>C (p.Leu46Pro) c.104T>C (p.Leu35Pro) c.365T>C (p.Leu122Pro) c.382T>C n.523T>C | ClinVar dbSNP |
| 11 | g.17387727A>T | CA379774151 | KCNJ11 | c.137T>A (p.Leu46His) c.104T>A (p.Leu35His) c.365T>A (p.Leu122His) c.382T>A n.523T>A | |
| 11 | g.17387728G>A | CA379774157 | KCNJ11 | c.136C>T (p.Leu46Phe) c.103C>T (p.Leu35Phe) c.364C>T (p.Leu122Phe) c.381C>T n.522C>T | gnomAD v4 COSMIC |
| 11 | g.17387728G>C | CA379774155 | KCNJ11 | c.136C>G (p.Leu46Val) c.103C>G (p.Leu35Val) c.364C>G (p.Leu122Val) c.381C>G n.522C>G | |
| 11 | g.17387728G>T | CA379774153 | KCNJ11 | c.136C>A (p.Leu46Ile) c.103C>A (p.Leu35Ile) c.364C>A (p.Leu122Ile) c.381C>A n.522C>A | |
| 11 | g.17387729G>A | CA473515631 | KCNJ11 | c.135C>T (p.Phe45=) c.102C>T (p.Phe34=) c.363C>T (p.Phe121=) c.380C>T n.521C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.17387729G>C | CA379774158 | KCNJ11 | c.135C>G (p.Phe45Leu) c.102C>G (p.Phe34Leu) c.363C>G (p.Phe121Leu) c.380C>G n.521C>G | |
| 11 | g.17387729G= | CA1955119368 | KCNJ11 | c.135C= (p.Phe45=) c.102C= (p.Phe34=) c.363C= (p.Phe121=) c.380C= n.521C= | |
| 11 | g.17387729G>T | CA379774159 | KCNJ11 | c.135C>A (p.Phe45Leu) c.102C>A (p.Phe34Leu) c.363C>A (p.Phe121Leu) c.380C>A n.521C>A | |
| 11 | g.17387730A>C | CA379774160 | KCNJ11 | c.134T>G (p.Phe45Cys) c.101T>G (p.Phe34Cys) c.362T>G (p.Phe121Cys) c.379T>G n.520T>G | |
| 11 | g.17387730A>G | CA379774165 | KCNJ11 | c.134T>C (p.Phe45Ser) c.101T>C (p.Phe34Ser) c.362T>C (p.Phe121Ser) c.379T>C n.520T>C | |
| 11 | g.17387730A>T | CA379774162 | KCNJ11 | c.134T>A (p.Phe45Tyr) c.101T>A (p.Phe34Tyr) c.362T>A (p.Phe121Tyr) c.379T>A n.520T>A | |
| 11 | g.17387731A>C | CA379774169 | KCNJ11 | c.133T>G (p.Phe45Val) c.100T>G (p.Phe34Val) c.361T>G (p.Phe121Val) c.378T>G n.519T>G | |
| 11 | g.17387731A>G | CA379774171 | KCNJ11 | c.133T>C (p.Phe45Leu) c.100T>C (p.Phe34Leu) c.361T>C (p.Phe121Leu) c.378T>C n.519T>C | |
| 11 | g.17387731A>T | CA379774174 | KCNJ11 | c.133T>A (p.Phe45Ile) c.100T>A (p.Phe34Ile) c.361T>A (p.Phe121Ile) c.378T>A n.519T>A | |
| 11 | g.17387732G>A | CA473515634 | KCNJ11 | c.132C>T (p.Ala44=) c.99C>T (p.Ala33=) c.360C>T (p.Ala120=) c.377C>T n.518C>T |