Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.17387727del | CA2831039173 | KCNJ11 | c.140del (p.Phe47SerfsTer7) c.107del (p.Phe36SerfsTer7) c.368del (p.Phe123SerfsTer7) c.385del n.526del | |
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 | |
11 | g.17387732G>C | CA473515635 | KCNJ11 | c.132C>G (p.Ala44=) c.99C>G (p.Ala33=) c.360C>G (p.Ala120=) c.377C>G n.518C>G | |
11 | g.17387732G>T | CA473515636 | KCNJ11 | c.132C>A (p.Ala44=) c.99C>A (p.Ala33=) c.360C>A (p.Ala120=) c.377C>A n.518C>A | |
11 | g.17387733G>A | CA379774177 | KCNJ11 | c.131C>T (p.Ala44Val) c.98C>T (p.Ala33Val) c.359C>T (p.Ala120Val) c.376C>T n.517C>T | |
11 | g.17387733G>C | CA379774179 | KCNJ11 | c.131C>G (p.Ala44Gly) c.98C>G (p.Ala33Gly) c.359C>G (p.Ala120Gly) c.376C>G n.517C>G | |
11 | g.17387733G>T | CA379774182 | KCNJ11 | c.131C>A (p.Ala44Asp) c.98C>A (p.Ala33Asp) c.359C>A (p.Ala120Asp) c.376C>A n.517C>A | |
11 | g.17387733_17387734delinsGC | CA1955119369 | KCNJ11 | c.130_131delinsGC (p.Ala44=) c.97_98delinsGC (p.Ala33=) c.358_359delinsGC (p.Ala120=) c.375_376delinsGC n.516_517delinsGC | |
11 | g.17387734del | CA597904312 | KCNJ11 | c.130del (p.Ala44ProfsTer10) c.97del (p.Ala33ProfsTer10) c.358del (p.Ala120ProfsTer10) c.375del n.516del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387734C>A | CA379774186 | KCNJ11 | c.130G>T (p.Ala44Ser) c.97G>T (p.Ala33Ser) c.358G>T (p.Ala120Ser) c.375G>T n.516G>T | |
11 | g.17387734C= | CA1955119370 | KCNJ11 | c.130G= (p.Ala44=) c.97G= (p.Ala33=) c.358G= (p.Ala120=) c.375G= n.516G= | |
11 | g.17387734C>G | CA379774189 | KCNJ11 | c.130G>C (p.Ala44Pro) c.97G>C (p.Ala33Pro) c.358G>C (p.Ala120Pro) c.375G>C n.516G>C | |
11 | g.17387734C>T | CA379774191 | KCNJ11 | c.130G>A (p.Ala44Thr) c.97G>A (p.Ala33Thr) c.358G>A (p.Ala120Thr) c.375G>A n.516G>A | dbSNP |
11 | g.17387735A= | CA1955119371 | KCNJ11 | c.129T= (p.Ser43=) c.96T= (p.Ser32=) c.357T= (p.Ser119=) c.374T= n.515T= | |
11 | g.17387735A>C | CA473515637 | KCNJ11 | c.129T>G (p.Ser43=) c.96T>G (p.Ser32=) c.357T>G (p.Ser119=) c.374T>G n.515T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387735A>G | CA473515638 | KCNJ11 | c.129T>C (p.Ser43=) c.96T>C (p.Ser32=) c.357T>C (p.Ser119=) c.374T>C n.515T>C | |
11 | g.17387735A>T | CA473515640 | KCNJ11 | c.129T>A (p.Ser43=) c.96T>A (p.Ser32=) c.357T>A (p.Ser119=) c.374T>A n.515T>A | |
11 | g.17387736G>A | CA379774195 | KCNJ11 | c.128C>T (p.Ser43Phe) c.95C>T (p.Ser32Phe) c.356C>T (p.Ser119Phe) c.373C>T n.514C>T | |
11 | g.17387736G>C | CA379774199 | KCNJ11 | c.128C>G (p.Ser43Cys) c.95C>G (p.Ser32Cys) c.356C>G (p.Ser119Cys) c.373C>G n.514C>G | |
11 | g.17387736G>T | CA379774212 | KCNJ11 | c.128C>A (p.Ser43Tyr) c.95C>A (p.Ser32Tyr) c.356C>A (p.Ser119Tyr) c.373C>A n.514C>A | |
11 | g.17387736dup | CA2695213247 | KCNJ11 | c.128dup (p.Ala44CysfsTer7) c.95dup (p.Ala33CysfsTer7) c.356dup (p.Ala120CysfsTer7) c.373dup n.514dup | |
11 | g.17387737A= | CA1955119372 | KCNJ11 | c.127T= (p.Ser43=) c.94T= (p.Ser32=) c.355T= (p.Ser119=) c.372T= n.513T= | |
11 | g.17387737A>C | CA5902296 | KCNJ11 | c.127T>G (p.Ser43Ala) c.94T>G (p.Ser32Ala) c.355T>G (p.Ser119Ala) c.372T>G n.513T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387737A>G | CA379774215 | KCNJ11 | c.127T>C (p.Ser43Pro) c.94T>C (p.Ser32Pro) c.355T>C (p.Ser119Pro) c.372T>C n.513T>C | |
11 | g.17387737A>T | CA379774217 | KCNJ11 | c.127T>A (p.Ser43Thr) c.94T>A (p.Ser32Thr) c.355T>A (p.Ser119Thr) c.372T>A n.513T>A | |
11 | g.17387738C>A | CA473515644 | KCNJ11 | c.126G>T (p.Ser42=) c.93G>T (p.Ser31=) c.354G>T (p.Ser118=) c.371G>T n.512G>T | |
11 | g.17387738C= | CA1955119373 | KCNJ11 | c.126G= (p.Ser42=) c.93G= (p.Ser31=) c.354G= (p.Ser118=) c.371G= n.512G= | |
11 | g.17387738C>G | CA473515641 | KCNJ11 | c.126G>C (p.Ser42=) c.93G>C (p.Ser31=) c.354G>C (p.Ser118=) c.371G>C n.512G>C | gnomAD v4 |
11 | g.17387738C>T | CA5902297 | KCNJ11 | c.126G>A (p.Ser42=) c.93G>A (p.Ser31=) c.354G>A (p.Ser118=) c.371G>A n.512G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387739G>A | CA5902299 | KCNJ11 | c.125C>T (p.Ser42Leu) c.92C>T (p.Ser31Leu) c.353C>T (p.Ser118Leu) c.370C>T n.511C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387739G>C | CA379774228 | KCNJ11 | c.125C>G (p.Ser42Trp) c.92C>G (p.Ser31Trp) c.353C>G (p.Ser118Trp) c.370C>G n.511C>G | |
11 | g.17387739G= | CA1955119375 | KCNJ11 | c.125C= (p.Ser42=) c.92C= (p.Ser31=) c.353C= (p.Ser118=) c.370C= n.511C= | |
11 | g.17387739G>T | CA379774230 | KCNJ11 | c.125C>A (p.Ser42Ter) c.92C>A (p.Ser31Ter) c.353C>A (p.Ser118Ter) c.370C>A n.511C>A | |
11 | g.17387739_17387742delinsGAGA | CA1955119374 | KCNJ11 | c.122_125delinsTCTC (p.Phe41=) c.89_92delinsTCTC (p.Phe30=) c.350_353delinsTCTC (p.Phe117=) c.367_370delinsTCTC n.508_511delinsTCTC | |
11 | g.17387742_17387747del | CA2695213248 | KCNJ11 | c.120_125del (p.Phe41_Ser42del) c.87_92del (p.Phe30_Ser31del) c.348_353del (p.Phe117_Ser118del) c.365_370del n.506_511del | |
11 | g.17387740A>C | CA379774236 | KCNJ11 | c.124T>G (p.Ser42Ala) c.91T>G (p.Ser31Ala) c.352T>G (p.Ser118Ala) c.369T>G n.510T>G | |
11 | g.17387740A>G | CA379774238 | KCNJ11 | c.124T>C (p.Ser42Pro) c.91T>C (p.Ser31Pro) c.352T>C (p.Ser118Pro) c.369T>C n.510T>C | |
11 | g.17387740A>T | CA379774241 | KCNJ11 | c.124T>A (p.Ser42Thr) c.91T>A (p.Ser31Thr) c.352T>A (p.Ser118Thr) c.369T>A n.510T>A | |
11 | g.17387742_17387744del | CA5902298 | KCNJ11 | c.122_124del (p.Phe41del) c.89_91del (p.Phe30del) c.350_352del (p.Phe117del) c.367_369del n.508_510del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387741G>A | CA473515646 | KCNJ11 | c.123C>T (p.Phe41=) c.90C>T (p.Phe30=) c.351C>T (p.Phe117=) c.368C>T n.509C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387741G>C | CA379774246 | KCNJ11 | c.123C>G (p.Phe41Leu) c.90C>G (p.Phe30Leu) c.351C>G (p.Phe117Leu) c.368C>G n.509C>G | |
11 | g.17387741G= | CA1955119376 | KCNJ11 | c.123C= (p.Phe41=) c.90C= (p.Phe30=) c.351C= (p.Phe117=) c.368C= n.509C= | |
11 | g.17387741G>T | CA379774248 | KCNJ11 | c.123C>A (p.Phe41Leu) c.90C>A (p.Phe30Leu) c.351C>A (p.Phe117Leu) c.368C>A n.509C>A | |
11 | g.17387742A>C | CA379774256 | KCNJ11 | c.122T>G (p.Phe41Cys) c.89T>G (p.Phe30Cys) c.350T>G (p.Phe117Cys) c.367T>G n.508T>G | |
11 | g.17387742A>G | CA379774254 | KCNJ11 | c.122T>C (p.Phe41Ser) c.89T>C (p.Phe30Ser) c.350T>C (p.Phe117Ser) c.367T>C n.508T>C | |
11 | g.17387742A>T | CA379774251 | KCNJ11 | c.122T>A (p.Phe41Tyr) c.89T>A (p.Phe30Tyr) c.350T>A (p.Phe117Tyr) c.367T>A n.508T>A | |
11 | g.17387743A>C | CA379774260 | KCNJ11 | c.121T>G (p.Phe41Val) c.88T>G (p.Phe30Val) c.349T>G (p.Phe117Val) c.366T>G n.507T>G | |
11 | g.17387743A>G | CA379774263 | KCNJ11 | c.121T>C (p.Phe41Leu) c.88T>C (p.Phe30Leu) c.349T>C (p.Phe117Leu) c.366T>C n.507T>C | |
11 | g.17387743A>T | CA379774265 | KCNJ11 | c.121T>A (p.Phe41Ile) c.88T>A (p.Phe30Ile) c.349T>A (p.Phe117Ile) c.366T>A n.507T>A | |
11 | g.17387744G>A | CA473515650 | KCNJ11 | c.120C>T (p.Ser40=) c.87C>T (p.Ser29=) c.348C>T (p.Ser116=) c.365C>T n.506C>T | gnomAD v4 |
11 | g.17387744G>C | CA473515651 | KCNJ11 | c.120C>G (p.Ser40=) c.87C>G (p.Ser29=) c.348C>G (p.Ser116=) c.365C>G n.506C>G | |
11 | g.17387744G>T | CA473515652 | KCNJ11 | c.120C>A (p.Ser40=) c.87C>A (p.Ser29=) c.348C>A (p.Ser116=) c.365C>A n.506C>A | |
11 | g.17387745G>A | CA379774270 | KCNJ11 | c.119C>T (p.Ser40Phe) c.86C>T (p.Ser29Phe) c.347C>T (p.Ser116Phe) c.364C>T n.505C>T | |
11 | g.17387745G>C | CA379774273 | KCNJ11 | c.119C>G (p.Ser40Cys) c.86C>G (p.Ser29Cys) c.347C>G (p.Ser116Cys) c.364C>G n.505C>G | |
11 | g.17387745G>T | CA379774275 | KCNJ11 | c.119C>A (p.Ser40Tyr) c.86C>A (p.Ser29Tyr) c.347C>A (p.Ser116Tyr) c.364C>A n.505C>A | |
11 | g.17387746A= | CA1955119377 | KCNJ11 | c.118T= (p.Ser40=) c.85T= (p.Ser29=) c.346T= (p.Ser116=) c.363T= n.504T= | |
11 | g.17387746A>C | CA379774280 | KCNJ11 | c.118T>G (p.Ser40Ala) c.85T>G (p.Ser29Ala) c.346T>G (p.Ser116Ala) c.363T>G n.504T>G | |
11 | g.17387746A>G | CA379774284 | KCNJ11 | c.118T>C (p.Ser40Pro) c.85T>C (p.Ser29Pro) c.346T>C (p.Ser116Pro) c.363T>C n.504T>C | ClinVar dbSNP gnomAD v4 |
11 | g.17387746A>T | CA379774286 | KCNJ11 | c.118T>A (p.Ser40Thr) c.85T>A (p.Ser29Thr) c.346T>A (p.Ser116Thr) c.363T>A n.504T>A | |
11 | g.17387747G>A | CA218399978 | KCNJ11 | c.117C>T (p.His39=) c.84C>T (p.His28=) c.345C>T (p.His115=) c.362C>T n.503C>T | dbSNP |
11 | g.17387747G>C | CA379774292 | KCNJ11 | c.117C>G (p.His39Gln) c.84C>G (p.His28Gln) c.345C>G (p.His115Gln) c.362C>G n.503C>G | |
11 | g.17387747G= | CA1955119378 | KCNJ11 | c.117C= (p.His39=) c.84C= (p.His28=) c.345C= (p.His115=) c.362C= n.503C= | |
11 | g.17387747G>T | CA379774294 | KCNJ11 | c.117C>A (p.His39Gln) c.84C>A (p.His28Gln) c.345C>A (p.His115Gln) c.362C>A n.503C>A | |
11 | g.17387748T>A | CA379774304 | KCNJ11 | c.116A>T (p.His39Leu) c.83A>T (p.His28Leu) c.344A>T (p.His115Leu) c.361A>T n.502A>T | ClinVar |
11 | g.17387748T>C | CA218399984 | KCNJ11 | c.116A>G (p.His39Arg) c.83A>G (p.His28Arg) c.344A>G (p.His115Arg) c.361A>G n.502A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387748T>G | CA379774299 | KCNJ11 | c.116A>C (p.His39Pro) c.83A>C (p.His28Pro) c.344A>C (p.His115Pro) c.361A>C n.502A>C | |
11 | g.17387748T= | CA1955119379 | KCNJ11 | c.116A= (p.His39=) c.83A= (p.His28=) c.344A= (p.His115=) c.361A= n.502A= | |
11 | g.17387749G>A | CA379774309 | KCNJ11 | c.115C>T (p.His39Tyr) c.82C>T (p.His28Tyr) c.343C>T (p.His115Tyr) c.360C>T n.501C>T | |
11 | g.17387749G>C | CA379774311 | KCNJ11 | c.115C>G (p.His39Asp) c.82C>G (p.His28Asp) c.343C>G (p.His115Asp) c.360C>G n.501C>G | |
11 | g.17387749G>T | CA379774315 | KCNJ11 | c.115C>A (p.His39Asn) c.82C>A (p.His28Asn) c.343C>A (p.His115Asn) c.360C>A n.501C>A | |
11 | g.17387750G>A | CA473515656 | KCNJ11 | c.114C>T (p.Ile38=) c.81C>T (p.Ile27=) c.342C>T (p.Ile114=) c.359C>T n.500C>T | |
11 | g.17387750G>C | CA379774318 | KCNJ11 | c.114C>G (p.Ile38Met) c.81C>G (p.Ile27Met) c.342C>G (p.Ile114Met) c.359C>G n.500C>G | |
11 | g.17387750G>T | CA473515657 | KCNJ11 | c.114C>A (p.Ile38=) c.81C>A (p.Ile27=) c.342C>A (p.Ile114=) c.359C>A n.500C>A | |
11 | g.17387751A>C | CA379774319 | KCNJ11 | c.113T>G (p.Ile38Ser) c.80T>G (p.Ile27Ser) c.341T>G (p.Ile114Ser) c.358T>G n.499T>G | |
11 | g.17387751A>G | CA379774320 | KCNJ11 | c.113T>C (p.Ile38Thr) c.80T>C (p.Ile27Thr) c.341T>C (p.Ile114Thr) c.358T>C n.499T>C | |
11 | g.17387751A>T | CA379774322 | KCNJ11 | c.113T>A (p.Ile38Asn) c.80T>A (p.Ile27Asn) c.341T>A (p.Ile114Asn) c.358T>A n.499T>A | |
11 | g.17387752T>A | CA379774328 | KCNJ11 | c.112A>T (p.Ile38Phe) c.79A>T (p.Ile27Phe) c.340A>T (p.Ile114Phe) c.357A>T n.498A>T | |
11 | g.17387752T>C | CA379774329 | KCNJ11 | c.112A>G (p.Ile38Val) c.79A>G (p.Ile27Val) c.340A>G (p.Ile114Val) c.357A>G n.498A>G | |
11 | g.17387752T>G | CA379774332 | KCNJ11 | c.112A>C (p.Ile38Leu) c.79A>C (p.Ile27Leu) c.340A>C (p.Ile114Leu) c.357A>C n.498A>C | |
11 | g.17387753G>A | CA473515661 | KCNJ11 | c.111C>T (p.Ser37=) c.78C>T (p.Ser26=) c.339C>T (p.Ser113=) c.356C>T n.497C>T | |
11 | g.17387753G>C | CA379774335 | KCNJ11 | c.111C>G (p.Ser37Arg) c.78C>G (p.Ser26Arg) c.339C>G (p.Ser113Arg) c.356C>G n.497C>G | |
11 | g.17387753G>T | CA379774337 | KCNJ11 | c.111C>A (p.Ser37Arg) c.78C>A (p.Ser26Arg) c.339C>A (p.Ser113Arg) c.356C>A n.497C>A | |
11 | g.17387754C>A | CA379774346 | KCNJ11 | c.110G>T (p.Ser37Ile) c.77G>T (p.Ser26Ile) c.338G>T (p.Ser113Ile) c.355G>T n.496G>T | |
11 | g.17387754C>G | CA379774343 | KCNJ11 | c.110G>C (p.Ser37Thr) c.77G>C (p.Ser26Thr) c.338G>C (p.Ser113Thr) c.355G>C n.496G>C | |
11 | g.17387754C>T | CA379774340 | KCNJ11 | c.110G>A (p.Ser37Asn) c.77G>A (p.Ser26Asn) c.338G>A (p.Ser113Asn) c.355G>A n.496G>A | |
11 | g.17387755T>A | CA379774349 | KCNJ11 | c.109A>T (p.Ser37Cys) c.76A>T (p.Ser26Cys) c.337A>T (p.Ser113Cys) c.354A>T n.495A>T | |
11 | g.17387755T>C | CA5902300 | KCNJ11 | c.109A>G (p.Ser37Gly) c.76A>G (p.Ser26Gly) c.337A>G (p.Ser113Gly) c.354A>G n.495A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387755T>G | CA379774352 | KCNJ11 | c.109A>C (p.Ser37Arg) c.76A>C (p.Ser26Arg) c.337A>C (p.Ser113Arg) c.354A>C n.495A>C | |
11 | g.17387755T= | CA1955119380 | KCNJ11 | c.109A= (p.Ser37=) c.76A= (p.Ser26=) c.337A= (p.Ser113=) c.354A= n.495A= | |
11 | g.17387756G>A | CA473515758 | KCNJ11 | c.108C>T (p.Thr36=) c.75C>T (p.Thr25=) c.336C>T (p.Thr112=) c.353C>T n.494C>T | |
11 | g.17387756G>C | CA473515759 | KCNJ11 | c.108C>G (p.Thr36=) c.75C>G (p.Thr25=) c.336C>G (p.Thr112=) c.353C>G n.494C>G | ClinVar dbSNP |
11 | g.17387756G>T | CA473515760 | KCNJ11 | c.108C>A (p.Thr36=) c.75C>A (p.Thr25=) c.336C>A (p.Thr112=) c.353C>A n.494C>A | |
11 | g.17387757G>A | CA379774358 | KCNJ11 | c.107C>T (p.Thr36Ile) c.74C>T (p.Thr25Ile) c.335C>T (p.Thr112Ile) c.352C>T n.493C>T | |
11 | g.17387757G>C | CA379774360 | KCNJ11 | c.107C>G (p.Thr36Ser) c.74C>G (p.Thr25Ser) c.335C>G (p.Thr112Ser) c.352C>G n.493C>G | |
11 | g.17387757G>T | CA379774363 | KCNJ11 | c.107C>A (p.Thr36Asn) c.74C>A (p.Thr25Asn) c.335C>A (p.Thr112Asn) c.352C>A n.493C>A | ClinVar gnomAD v4 |
11 | g.17387758T>A | CA379774366 | KCNJ11 | c.106A>T (p.Thr36Ser) c.73A>T (p.Thr25Ser) c.334A>T (p.Thr112Ser) c.351A>T n.492A>T | |
11 | g.17387758T>C | CA5902301 | KCNJ11 | c.106A>G (p.Thr36Ala) c.73A>G (p.Thr25Ala) c.334A>G (p.Thr112Ala) c.351A>G n.492A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387758T>G | CA379774370 | KCNJ11 | c.106A>C (p.Thr36Pro) c.73A>C (p.Thr25Pro) c.334A>C (p.Thr112Pro) c.351A>C n.492A>C | dbSNP |
11 | g.17387758T= | CA1955119381 | KCNJ11 | c.106A= (p.Thr36=) c.73A= (p.Thr25=) c.334A= (p.Thr112=) c.351A= n.492A= | |
11 | g.17387759G>A | CA473515761 | KCNJ11 | c.105C>T (p.Val35=) c.72C>T (p.Val24=) c.333C>T (p.Val111=) c.350C>T n.491C>T | COSMIC |
11 | g.17387759G>C | CA473515762 | KCNJ11 | c.105C>G (p.Val35=) c.72C>G (p.Val24=) c.333C>G (p.Val111=) c.350C>G n.491C>G | |
11 | g.17387759G>T | CA473515763 | KCNJ11 | c.105C>A (p.Val35=) c.72C>A (p.Val24=) c.333C>A (p.Val111=) c.350C>A n.491C>A | |
11 | g.17387760A>C | CA379774380 | KCNJ11 | c.104T>G (p.Val35Gly) c.71T>G (p.Val24Gly) c.332T>G (p.Val111Gly) c.349T>G n.490T>G | |
11 | g.17387760A>G | CA379774382 | KCNJ11 | c.104T>C (p.Val35Ala) c.71T>C (p.Val24Ala) c.332T>C (p.Val111Ala) c.349T>C n.490T>C | |
11 | g.17387760A>T | CA379774385 | KCNJ11 | c.104T>A (p.Val35Asp) c.71T>A (p.Val24Asp) c.332T>A (p.Val111Asp) c.349T>A n.490T>A | |
11 | g.17387763_17387764del | CA2580615637 | KCNJ11 | c.103_104del (p.Val35HisfsTer15) c.70_71del (p.Val24HisfsTer15) c.331_332del (p.Val111HisfsTer15) c.348_349del n.489_490del | ClinVar dbSNP |
11 | g.17387761C>A | CA379774389 | KCNJ11 | c.103G>T (p.Val35Phe) c.70G>T (p.Val24Phe) c.331G>T (p.Val111Phe) c.348G>T n.489G>T | |
11 | g.17387761C= | CA1955119382 | KCNJ11 | c.103G= (p.Val35=) c.70G= (p.Val24=) c.331G= (p.Val111=) c.348G= n.489G= | |
11 | g.17387761C>G | CA379774391 | KCNJ11 | c.103G>C (p.Val35Leu) c.70G>C (p.Val24Leu) c.331G>C (p.Val111Leu) c.348G>C n.489G>C | |
11 | g.17387761C>T | CA218399995 | KCNJ11 | c.103G>A (p.Val35Ile) c.70G>A (p.Val24Ile) c.331G>A (p.Val111Ile) c.348G>A n.489G>A | dbSNP |
11 | g.17387762A>C | CA379774399 | KCNJ11 | c.102T>G (p.Cys34Trp) c.69T>G (p.Cys23Trp) c.330T>G (p.Cys110Trp) c.347T>G n.488T>G | |
11 | g.17387762A>G | CA473515764 | KCNJ11 | c.102T>C (p.Cys34=) c.69T>C (p.Cys23=) c.330T>C (p.Cys110=) c.347T>C n.488T>C | ClinVar dbSNP |
11 | g.17387762A>T | CA379774397 | KCNJ11 | c.102T>A (p.Cys34Ter) c.69T>A (p.Cys23Ter) c.330T>A (p.Cys110Ter) c.347T>A n.488T>A | |
11 | g.17387763C>A | CA379774404 | KCNJ11 | c.101G>T (p.Cys34Phe) c.68G>T (p.Cys23Phe) c.329G>T (p.Cys110Phe) c.346G>T n.487G>T | ClinVar dbSNP COSMIC |
11 | g.17387763C= | CA1955119383 | KCNJ11 | c.101G= (p.Cys34=) c.68G= (p.Cys23=) c.329G= (p.Cys110=) c.346G= n.487G= | |
11 | g.17387763C>G | CA379774406 | KCNJ11 | c.101G>C (p.Cys34Ser) c.68G>C (p.Cys23Ser) c.329G>C (p.Cys110Ser) c.346G>C n.487G>C | |
11 | g.17387763C>T | CA379774409 | KCNJ11 | c.101G>A (p.Cys34Tyr) c.68G>A (p.Cys23Tyr) c.329G>A (p.Cys110Tyr) c.346G>A n.487G>A | |
11 | g.17387764A>C | CA379774413 | KCNJ11 | c.100T>G (p.Cys34Gly) c.67T>G (p.Cys23Gly) c.328T>G (p.Cys110Gly) c.345T>G n.486T>G | |
11 | g.17387764A>G | CA379774418 | KCNJ11 | c.100T>C (p.Cys34Arg) c.67T>C (p.Cys23Arg) c.328T>C (p.Cys110Arg) c.345T>C n.486T>C | |
11 | g.17387764A>T | CA379774420 | KCNJ11 | c.100T>A (p.Cys34Ser) c.67T>A (p.Cys23Ser) c.328T>A (p.Cys110Ser) c.345T>A n.486T>A | |
11 | g.17387765G>A | CA473515765 | KCNJ11 | c.99C>T (p.Pro33=) c.66C>T (p.Pro22=) c.327C>T (p.Pro109=) c.344C>T n.485C>T | |
11 | g.17387765G>C | CA473515767 | KCNJ11 | c.99C>G (p.Pro33=) c.66C>G (p.Pro22=) c.327C>G (p.Pro109=) c.344C>G n.485C>G | |
11 | g.17387765G>T | CA473515766 | KCNJ11 | c.99C>A (p.Pro33=) c.66C>A (p.Pro22=) c.327C>A (p.Pro109=) c.344C>A n.485C>A | |
11 | g.17387766G>A | CA379774423 | KCNJ11 | c.98C>T (p.Pro33Leu) c.65C>T (p.Pro22Leu) c.326C>T (p.Pro109Leu) c.343C>T n.484C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387766G>C | CA379774424 | KCNJ11 | c.98C>G (p.Pro33Arg) c.65C>G (p.Pro22Arg) c.326C>G (p.Pro109Arg) c.343C>G n.484C>G | |
11 | g.17387766G= | CA1955119384 | KCNJ11 | c.98C= (p.Pro33=) c.65C= (p.Pro22=) c.326C= (p.Pro109=) c.343C= n.484C= | |
11 | g.17387766G>T | CA379774427 | KCNJ11 | c.98C>A (p.Pro33His) c.65C>A (p.Pro22His) c.326C>A (p.Pro109His) c.343C>A n.484C>A | |
11 | g.17387767G>A | CA379774432 | KCNJ11 | c.97C>T (p.Pro33Ser) c.64C>T (p.Pro22Ser) c.325C>T (p.Pro109Ser) c.342C>T n.483C>T | dbSNP |
11 | g.17387767G>C | CA379774435 | KCNJ11 | c.97C>G (p.Pro33Ala) c.64C>G (p.Pro22Ala) c.325C>G (p.Pro109Ala) c.342C>G n.483C>G | |
11 | g.17387767G= | CA1955119385 | KCNJ11 | c.97C= (p.Pro33=) c.64C= (p.Pro22=) c.325C= (p.Pro109=) c.342C= n.483C= | |
11 | g.17387767G>T | CA5902302 | KCNJ11 | c.97C>A (p.Pro33Thr) c.64C>A (p.Pro22Thr) c.325C>A (p.Pro109Thr) c.342C>A n.483C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387768C>A | CA379774444 | KCNJ11 | c.96G>T (p.Glu32Asp) c.63G>T (p.Glu21Asp) c.324G>T (p.Glu108Asp) c.341G>T n.482G>T | |
11 | g.17387768C>G | CA379774442 | KCNJ11 | c.96G>C (p.Glu32Asp) c.63G>C (p.Glu21Asp) c.324G>C (p.Glu108Asp) c.341G>C n.482G>C | ClinVar |
11 | g.17387768C>T | CA473515768 | KCNJ11 | c.96G>A (p.Glu32=) c.63G>A (p.Glu21=) c.324G>A (p.Glu108=) c.341G>A n.482G>A | |
11 | g.17387769T>A | CA379774448 | KCNJ11 | c.95A>T (p.Glu32Val) c.62A>T (p.Glu21Val) c.323A>T (p.Glu108Val) c.340A>T n.481A>T | |
11 | g.17387769T>C | CA379774451 | KCNJ11 | c.95A>G (p.Glu32Gly) c.62A>G (p.Glu21Gly) c.323A>G (p.Glu108Gly) c.340A>G n.481A>G | |
11 | g.17387769T>G | CA379774453 | KCNJ11 | c.95A>C (p.Glu32Ala) c.62A>C (p.Glu21Ala) c.323A>C (p.Glu108Ala) c.340A>C n.481A>C | |
11 | g.17387770C>A | CA379774457 | KCNJ11 | c.94G>T (p.Glu32Ter) c.61G>T (p.Glu21Ter) c.322G>T (p.Glu108Ter) c.339G>T n.480G>T | |
11 | g.17387770C= | CA1955119386 | KCNJ11 | c.94G= (p.Glu32=) c.61G= (p.Glu21=) c.322G= (p.Glu108=) c.339G= n.480G= | |
11 | g.17387770C>G | CA379774460 | KCNJ11 | c.94G>C (p.Glu32Gln) c.61G>C (p.Glu21Gln) c.322G>C (p.Glu108Gln) c.339G>C n.480G>C | |
11 | g.17387770C>T | CA379774462 | KCNJ11 | c.94G>A (p.Glu32Lys) c.61G>A (p.Glu21Lys) c.322G>A (p.Glu108Lys) c.339G>A n.480G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387771A>C | CA473515769 | KCNJ11 | c.93T>G (p.Ala31=) c.60T>G (p.Ala20=) c.321T>G (p.Ala107=) c.338T>G n.479T>G | |
11 | g.17387771A>G | CA473515771 | KCNJ11 | c.93T>C (p.Ala31=) c.60T>C (p.Ala20=) c.321T>C (p.Ala107=) c.338T>C n.479T>C | |
11 | g.17387771A>T | CA473515770 | KCNJ11 | c.93T>A (p.Ala31=) c.60T>A (p.Ala20=) c.321T>A (p.Ala107=) c.338T>A n.479T>A | |
11 | g.17387771_17387772insAA | CA2790574787 | KCNJ11 | c.93_94insTT (p.Glu32LeufsTer23) c.60_61insTT (p.Glu21LeufsTer23) c.321_322insTT (p.Glu108LeufsTer23) c.338_339insTT n.479_480insTT | |
11 | g.17387772G>A | CA379774465 | KCNJ11 | c.92C>T (p.Ala31Val) c.59C>T (p.Ala20Val) c.320C>T (p.Ala107Val) c.337C>T n.478C>T | |
11 | g.17387772G>C | CA379774466 | KCNJ11 | c.92C>G (p.Ala31Gly) c.59C>G (p.Ala20Gly) c.320C>G (p.Ala107Gly) c.337C>G n.478C>G | |
11 | g.17387772G>T | CA379774468 | KCNJ11 | c.92C>A (p.Ala31Asp) c.59C>A (p.Ala20Asp) c.320C>A (p.Ala107Asp) c.337C>A n.478C>A | |
11 | g.17387773C>A | CA379774474 | KCNJ11 | c.91G>T (p.Ala31Ser) c.58G>T (p.Ala20Ser) c.319G>T (p.Ala107Ser) c.336G>T n.477G>T | |
11 | g.17387773C>G | CA379774475 | KCNJ11 | c.91G>C (p.Ala31Pro) c.58G>C (p.Ala20Pro) c.319G>C (p.Ala107Pro) c.336G>C n.477G>C | |
11 | g.17387773C>T | CA379774477 | KCNJ11 | c.91G>A (p.Ala31Thr) c.58G>A (p.Ala20Thr) c.319G>A (p.Ala107Thr) c.336G>A n.477G>A | gnomAD v4 |
11 | g.17387774A>C | CA473515772 | KCNJ11 | c.90T>G (p.Thr30=) c.57T>G (p.Thr19=) c.318T>G (p.Thr106=) c.335T>G n.476T>G | |
11 | g.17387774A>G | CA473515773 | KCNJ11 | c.90T>C (p.Thr30=) c.57T>C (p.Thr19=) c.318T>C (p.Thr106=) c.335T>C n.476T>C | |
11 | g.17387774A>T | CA473515774 | KCNJ11 | c.90T>A (p.Thr30=) c.57T>A (p.Thr19=) c.318T>A (p.Thr106=) c.335T>A n.476T>A | |
11 | g.17387775del | CA2739276316 | KCNJ11 | c.89del (p.Thr30MetfsTer24) c.56del (p.Thr19MetfsTer24) c.317del (p.Thr106MetfsTer24) c.334del n.475del | ClinVar |
11 | g.17387775G>A | CA379774483 | KCNJ11 | c.89C>T (p.Thr30Ile) c.56C>T (p.Thr19Ile) c.317C>T (p.Thr106Ile) c.334C>T n.475C>T | ClinVar |
11 | g.17387775G>C | CA379774486 | KCNJ11 | c.89C>G (p.Thr30Ser) c.56C>G (p.Thr19Ser) c.317C>G (p.Thr106Ser) c.334C>G n.475C>G | |
11 | g.17387775G>T | CA379774481 | KCNJ11 | c.89C>A (p.Thr30Asn) c.56C>A (p.Thr19Asn) c.317C>A (p.Thr106Asn) c.334C>A n.475C>A | |
11 | g.17387776T>A | CA379774489 | KCNJ11 | c.88A>T (p.Thr30Ser) c.55A>T (p.Thr19Ser) c.316A>T (p.Thr106Ser) c.333A>T n.474A>T | |
11 | g.17387776T>C | CA379774492 | KCNJ11 | c.88A>G (p.Thr30Ala) c.55A>G (p.Thr19Ala) c.316A>G (p.Thr106Ala) c.333A>G n.474A>G | |
11 | g.17387776T>G | CA379774493 | KCNJ11 | c.88A>C (p.Thr30Pro) c.55A>C (p.Thr19Pro) c.316A>C (p.Thr106Pro) c.333A>C n.474A>C | gnomAD v4 |
11 | g.17387776_17387777insCCGGGACCTCCGTG | CA2790574798 | KCNJ11 | c.87_88insCACGGAGGTCCCGG (p.Thr30HisfsTer29) c.54_55insCACGGAGGTCCCGG (p.Thr19HisfsTer29) c.315_316insCACGGAGGTCCCGG (p.Thr106HisfsTer29) c.332_333insCACGGAGGTCCCGG n.473_474insCACGGAGGTCCCGG | |
11 | g.17387777G>A | CA473515775 | KCNJ11 | c.87C>T (p.Gly29=) c.54C>T (p.Gly18=) c.315C>T (p.Gly105=) c.332C>T n.473C>T | |
11 | g.17387777G>C | CA473515776 | KCNJ11 | c.87C>G (p.Gly29=) c.54C>G (p.Gly18=) c.315C>G (p.Gly105=) c.332C>G n.473C>G | |
11 | g.17387777G>T | CA473515777 | KCNJ11 | c.87C>A (p.Gly29=) c.54C>A (p.Gly18=) c.315C>A (p.Gly105=) c.332C>A n.473C>A | |
11 | g.17387778C>A | CA379774496 | KCNJ11 | c.86G>T (p.Gly29Val) c.53G>T (p.Gly18Val) c.314G>T (p.Gly105Val) c.331G>T n.472G>T | dbSNP |
11 | g.17387778C= | CA1955119387 | KCNJ11 | c.86G= (p.Gly29=) c.53G= (p.Gly18=) c.314G= (p.Gly105=) c.331G= n.472G= | |
11 | g.17387778C>G | CA379774498 | KCNJ11 | c.86G>C (p.Gly29Ala) c.53G>C (p.Gly18Ala) c.314G>C (p.Gly105Ala) c.331G>C n.472G>C | |
11 | g.17387778C>T | CA379774501 | KCNJ11 | c.86G>A (p.Gly29Asp) c.53G>A (p.Gly18Asp) c.314G>A (p.Gly105Asp) c.331G>A n.472G>A | |
11 | g.17387779C>A | CA379774504 | KCNJ11 | c.85G>T (p.Gly29Cys) c.52G>T (p.Gly18Cys) c.313G>T (p.Gly105Cys) c.330G>T n.471G>T | |
11 | g.17387779C>G | CA379774508 | KCNJ11 | c.85G>C (p.Gly29Arg) c.52G>C (p.Gly18Arg) c.313G>C (p.Gly105Arg) c.330G>C n.471G>C | |
11 | g.17387779C>T | CA379774505 | KCNJ11 | c.85G>A (p.Gly29Ser) c.52G>A (p.Gly18Ser) c.313G>A (p.Gly105Ser) c.330G>A n.471G>A | |
11 | g.17387779_17387780insGGG | CA2790574801 | KCNJ11 | c.84_85insCCC (p.Glu28_Gly29insPro) c.51_52insCCC (p.Glu17_Gly18insPro) c.312_313insCCC (p.Glu104_Gly105insPro) c.329_330insCCC n.470_471insCCC | |
11 | g.17387780C>A | CA379774512 | KCNJ11 | c.84G>T (p.Glu28Asp) c.51G>T (p.Glu17Asp) c.312G>T (p.Glu104Asp) c.329G>T n.470G>T | |
11 | g.17387780C>G | CA379774513 | KCNJ11 | c.84G>C (p.Glu28Asp) c.51G>C (p.Glu17Asp) c.312G>C (p.Glu104Asp) c.329G>C n.470G>C | gnomAD v4 |
11 | g.17387780C>T | CA473515778 | KCNJ11 | c.84G>A (p.Glu28=) c.51G>A (p.Glu17=) c.312G>A (p.Glu104=) c.329G>A n.470G>A | |
11 | g.17387781T>A | CA379774517 | KCNJ11 | c.83A>T (p.Glu28Val) c.50A>T (p.Glu17Val) c.311A>T (p.Glu104Val) c.328A>T n.469A>T | |
11 | g.17387781T>C | CA379774519 | KCNJ11 | c.83A>G (p.Glu28Gly) c.50A>G (p.Glu17Gly) c.311A>G (p.Glu104Gly) c.328A>G n.469A>G | |
11 | g.17387781T>G | CA379774522 | KCNJ11 | c.83A>C (p.Glu28Ala) c.50A>C (p.Glu17Ala) c.311A>C (p.Glu104Ala) c.328A>C n.469A>C | |
11 | g.17387781_17387782insG | CA2790574802 | KCNJ11 | c.82_83insC (p.Glu28AlafsTer5) c.49_50insC (p.Glu17AlafsTer5) c.310_311insC (p.Glu104AlafsTer5) c.327_328insC n.468_469insC | |
11 | g.17387782C>A | CA379774529 | KCNJ11 | c.82G>T (p.Glu28Ter) c.49G>T (p.Glu17Ter) c.310G>T (p.Glu104Ter) c.327G>T n.468G>T | |
11 | g.17387782C= | CA1955119388 | KCNJ11 | c.82G= (p.Glu28=) c.49G= (p.Glu17=) c.310G= (p.Glu104=) c.327G= n.468G= | |
11 | g.17387782C>G | CA379774531 | KCNJ11 | c.82G>C (p.Glu28Gln) c.49G>C (p.Glu17Gln) c.310G>C (p.Glu104Gln) c.327G>C n.468G>C | dbSNP |
11 | g.17387782C>T | CA5902303 | KCNJ11 | c.82G>A (p.Glu28Lys) c.49G>A (p.Glu17Lys) c.310G>A (p.Glu104Lys) c.327G>A n.468G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387783G>A | CA5902304 | KCNJ11 | c.81C>T (p.Ser27=) c.48C>T (p.Ser16=) c.309C>T (p.Ser103=) c.326C>T n.467C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387783G>C | CA379774536 | KCNJ11 | c.81C>G (p.Ser27Arg) c.48C>G (p.Ser16Arg) c.309C>G (p.Ser103Arg) c.326C>G n.467C>G | |
11 | g.17387783G= | CA1955119389 | KCNJ11 | c.81C= (p.Ser27=) c.48C= (p.Ser16=) c.309C= (p.Ser103=) c.326C= n.467C= | |
11 | g.17387783G>T | CA5902305 | KCNJ11 | c.81C>A (p.Ser27Arg) c.48C>A (p.Ser16Arg) c.309C>A (p.Ser103Arg) c.326C>A n.467C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387784C>A | CA218400013 | KCNJ11 | c.80G>T (p.Ser27Ile) c.47G>T (p.Ser16Ile) c.308G>T (p.Ser103Ile) c.325G>T n.466G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387784C= | CA1955119390 | KCNJ11 | c.80G= (p.Ser27=) c.47G= (p.Ser16=) c.308G= (p.Ser103=) c.325G= n.466G= | |
11 | g.17387784C>G | CA379774552 | KCNJ11 | c.80G>C (p.Ser27Thr) c.47G>C (p.Ser16Thr) c.308G>C (p.Ser103Thr) c.325G>C n.466G>C | |
11 | g.17387784C>T | CA379774550 | KCNJ11 | c.80G>A (p.Ser27Asn) c.47G>A (p.Ser16Asn) c.308G>A (p.Ser103Asn) c.325G>A n.466G>A | dbSNP gnomAD v4 |
11 | g.17387785T>A | CA379774555 | KCNJ11 | c.79A>T (p.Ser27Cys) c.46A>T (p.Ser16Cys) c.307A>T (p.Ser103Cys) c.324A>T n.465A>T | |
11 | g.17387785T>C | CA379774559 | KCNJ11 | c.79A>G (p.Ser27Gly) c.46A>G (p.Ser16Gly) c.307A>G (p.Ser103Gly) c.324A>G n.465A>G | |
11 | g.17387785T>G | CA379774561 | KCNJ11 | c.79A>C (p.Ser27Arg) c.46A>C (p.Ser16Arg) c.307A>C (p.Ser103Arg) c.324A>C n.465A>C | |
11 | g.17387786G>A | CA5902306 | KCNJ11 | c.78C>T (p.Pro26=) c.45C>T (p.Pro15=) c.306C>T (p.Pro102=) c.323C>T n.464C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387786G>C | CA473515780 | KCNJ11 | c.78C>G (p.Pro26=) c.45C>G (p.Pro15=) c.306C>G (p.Pro102=) c.323C>G n.464C>G | |
11 | g.17387786G= | CA1955119391 | KCNJ11 | c.78C= (p.Pro26=) c.45C= (p.Pro15=) c.306C= (p.Pro102=) c.323C= n.464C= | |
11 | g.17387786G>T | CA473515779 | KCNJ11 | c.78C>A (p.Pro26=) c.45C>A (p.Pro15=) c.306C>A (p.Pro102=) c.323C>A n.464C>A | dbSNP |
11 | g.17387790del | CA645577918 | KCNJ11 | c.78del (p.Ser27AlafsTer27) c.45del (p.Ser16AlafsTer27) c.306del (p.Ser103AlafsTer27) c.323del n.464del | COSMIC |
11 | g.17387786_17387787insCA | CA2790574807 | KCNJ11 | c.77_78insTG (p.Ser27AlafsTer28) c.44_45insTG (p.Ser16AlafsTer28) c.305_306insTG (p.Ser103AlafsTer28) c.322_323insTG n.463_464insTG | |
11 | g.17387787G>A | CA379774570 | KCNJ11 | c.77C>T (p.Pro26Leu) c.44C>T (p.Pro15Leu) c.305C>T (p.Pro102Leu) c.322C>T n.463C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387787G>C | CA379774572 | KCNJ11 | c.77C>G (p.Pro26Arg) c.44C>G (p.Pro15Arg) c.305C>G (p.Pro102Arg) c.322C>G n.463C>G | gnomAD v4 |
11 | g.17387787G= | CA1955119392 | KCNJ11 | c.77C= (p.Pro26=) c.44C= (p.Pro15=) c.305C= (p.Pro102=) c.322C= n.463C= | |
11 | g.17387787G>T | CA379774576 | KCNJ11 | c.77C>A (p.Pro26His) c.44C>A (p.Pro15His) c.305C>A (p.Pro102His) c.322C>A n.463C>A | |
11 | g.17387787_17387788insCC | CA2790574808 | KCNJ11 | c.76_77insGG (p.Pro26ArgfsTer29) c.43_44insGG (p.Pro15ArgfsTer29) c.304_305insGG (p.Pro102ArgfsTer29) c.321_322insGG n.462_463insGG | |
11 | g.17387788G>A | CA379774580 | KCNJ11 | c.76C>T (p.Pro26Ser) c.43C>T (p.Pro15Ser) c.304C>T (p.Pro102Ser) c.321C>T n.462C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387788G>C | CA379774581 | KCNJ11 | c.76C>G (p.Pro26Ala) c.43C>G (p.Pro15Ala) c.304C>G (p.Pro102Ala) c.321C>G n.462C>G | |
11 | g.17387788G= | CA1955119393 | KCNJ11 | c.76C= (p.Pro26=) c.43C= (p.Pro15=) c.304C= (p.Pro102=) c.321C= n.462C= | |
11 | g.17387788G>T | CA379774582 | KCNJ11 | c.76C>A (p.Pro26Thr) c.43C>A (p.Pro15Thr) c.304C>A (p.Pro102Thr) c.321C>A n.462C>A | gnomAD v4 |
11 | g.17387789G>A | CA5902307 | KCNJ11 | c.75C>T (p.Ala25=) c.42C>T (p.Ala14=) c.303C>T (p.Ala101=) c.320C>T n.461C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387789G>C | CA473515781 | KCNJ11 | c.75C>G (p.Ala25=) c.42C>G (p.Ala14=) c.303C>G (p.Ala101=) c.320C>G n.461C>G | |
11 | g.17387789G= | CA1955119394 | KCNJ11 | c.75C= (p.Ala25=) c.42C= (p.Ala14=) c.303C= (p.Ala101=) c.320C= n.461C= | |
11 | g.17387789G>T | CA473515782 | KCNJ11 | c.75C>A (p.Ala25=) c.42C>A (p.Ala14=) c.303C>A (p.Ala101=) c.320C>A n.461C>A | |
11 | g.17387790G>A | CA379774597 | KCNJ11 | c.74C>T (p.Ala25Val) c.41C>T (p.Ala14Val) c.302C>T (p.Ala101Val) c.319C>T n.460C>T | |
11 | g.17387790G>C | CA379774592 | KCNJ11 | c.74C>G (p.Ala25Gly) c.41C>G (p.Ala14Gly) c.302C>G (p.Ala101Gly) c.319C>G n.460C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387790G= | CA1955119395 | KCNJ11 | c.74C= (p.Ala25=) c.41C= (p.Ala14=) c.302C= (p.Ala101=) c.319C= n.460C= | |
11 | g.17387790G>T | CA218400036 | KCNJ11 | c.74C>A (p.Ala25Asp) c.41C>A (p.Ala14Asp) c.302C>A (p.Ala101Asp) c.319C>A n.460C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387790_17387791insTGCCGTGGT | CA2790574813 | KCNJ11 | c.73_74insACCACGGCA (p.Ala25delinsAspHisGlyThr) c.40_41insACCACGGCA (p.Ala14delinsAspHisGlyThr) c.301_302insACCACGGCA (p.Ala101delinsAspHisGlyThr) c.318_319insACCACGGCA n.459_460insACCACGGCA | |
11 | g.17387791C>A | CA379774603 | KCNJ11 | c.73G>T (p.Ala25Ser) c.40G>T (p.Ala14Ser) c.301G>T (p.Ala101Ser) c.318G>T n.459G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387791C= | CA1955119396 | KCNJ11 | c.73G= (p.Ala25=) c.40G= (p.Ala14=) c.301G= (p.Ala101=) c.318G= n.459G= | |
11 | g.17387791C>G | CA379774606 | KCNJ11 | c.73G>C (p.Ala25Pro) c.40G>C (p.Ala14Pro) c.301G>C (p.Ala101Pro) c.318G>C n.459G>C | |
11 | g.17387791C>T | CA379774610 | KCNJ11 | c.73G>A (p.Ala25Thr) c.40G>A (p.Ala14Thr) c.301G>A (p.Ala101Thr) c.318G>A n.459G>A | |
11 | g.17387792C>A | CA473515783 | KCNJ11 | c.72G>T (p.Leu24=) c.39G>T (p.Leu13=) c.300G>T (p.Leu100=) c.317G>T n.458G>T | |
11 | g.17387792C>G | CA473515784 | KCNJ11 | c.72G>C (p.Leu24=) c.39G>C (p.Leu13=) c.300G>C (p.Leu100=) c.317G>C n.458G>C | |
11 | g.17387792C>T | CA473515785 | KCNJ11 | c.72G>A (p.Leu24=) c.39G>A (p.Leu13=) c.300G>A (p.Leu100=) c.317G>A n.458G>A | |
11 | g.17387793A>C | CA379774615 | KCNJ11 | c.71T>G (p.Leu24Arg) c.38T>G (p.Leu13Arg) c.299T>G (p.Leu100Arg) c.316T>G n.457T>G | |
11 | g.17387793A>G | CA379774618 | KCNJ11 | c.71T>C (p.Leu24Pro) c.38T>C (p.Leu13Pro) c.299T>C (p.Leu100Pro) c.316T>C n.457T>C | gnomAD v4 |
11 | g.17387793A>T | CA379774623 | KCNJ11 | c.71T>A (p.Leu24Gln) c.38T>A (p.Leu13Gln) c.299T>A (p.Leu100Gln) c.316T>A n.457T>A | |
11 | g.17387793_17387794delinsAG | CA1955119397 | KCNJ11 | c.70_71delinsCT (p.Leu24=) c.37_38delinsCT (p.Leu13=) c.298_299delinsCT (p.Leu100=) c.315_316delinsCT n.456_457delinsCT | |
11 | g.17387794G>A | CA473515786 | KCNJ11 | c.70C>T (p.Leu24=) c.37C>T (p.Leu13=) c.298C>T (p.Leu100=) c.315C>T n.456C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387794G>C | CA379774628 | KCNJ11 | c.70C>G (p.Leu24Val) c.37C>G (p.Leu13Val) c.298C>G (p.Leu100Val) c.315C>G n.456C>G | |
11 | g.17387794G= | CA1955119398 | KCNJ11 | c.70C= (p.Leu24=) c.37C= (p.Leu13=) c.298C= (p.Leu100=) c.315C= n.456C= | |
11 | g.17387794G>T | CA379774631 | KCNJ11 | c.70C>A (p.Leu24Met) c.37C>A (p.Leu13Met) c.298C>A (p.Leu100Met) c.315C>A n.456C>A | |
11 | g.17387795del | CA5902308 | KCNJ11 | c.70del (p.Leu24TrpfsTer30) c.37del (p.Leu13TrpfsTer30) c.298del (p.Leu100TrpfsTer30) c.315del n.456del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387795G>A | CA473515787 | KCNJ11 | c.69C>T (p.Asp23=) c.36C>T (p.Asp12=) c.297C>T (p.Asp99=) c.314C>T n.455C>T | |
11 | g.17387795G>C | CA379774650 | KCNJ11 | c.69C>G (p.Asp23Glu) c.36C>G (p.Asp12Glu) c.297C>G (p.Asp99Glu) c.314C>G n.455C>G | |
11 | g.17387795G>T | CA379774653 | KCNJ11 | c.69C>A (p.Asp23Glu) c.36C>A (p.Asp12Glu) c.297C>A (p.Asp99Glu) c.314C>A n.455C>A | |
11 | g.17387796T>A | CA379774668 | KCNJ11 | c.68A>T (p.Asp23Val) c.35A>T (p.Asp12Val) c.296A>T (p.Asp99Val) c.313A>T n.454A>T | |
11 | g.17387796T>C | CA379774665 | KCNJ11 | c.68A>G (p.Asp23Gly) c.35A>G (p.Asp12Gly) c.296A>G (p.Asp99Gly) c.313A>G n.454A>G | gnomAD v4 |
11 | g.17387796T>G | CA379774659 | KCNJ11 | c.68A>C (p.Asp23Ala) c.35A>C (p.Asp12Ala) c.296A>C (p.Asp99Ala) c.313A>C n.454A>C | |
11 | g.17387797C>A | CA379774673 | KCNJ11 | c.67G>T (p.Asp23Tyr) c.34G>T (p.Asp12Tyr) c.295G>T (p.Asp99Tyr) c.312G>T n.453G>T | |
11 | g.17387797C>G | CA379774678 | KCNJ11 | c.67G>C (p.Asp23His) c.34G>C (p.Asp12His) c.295G>C (p.Asp99His) c.312G>C n.453G>C | |
11 | g.17387797C>T | CA379774680 | KCNJ11 | c.67G>A (p.Asp23Asn) c.34G>A (p.Asp12Asn) c.295G>A (p.Asp99Asn) c.312G>A n.453G>A | gnomAD v4 |
11 | g.17387798A>C | CA473515788 | KCNJ11 | c.66T>G (p.Gly22=) c.33T>G (p.Gly11=) c.294T>G (p.Gly98=) c.311T>G n.452T>G | |
11 | g.17387798A>G | CA473515789 | KCNJ11 | c.66T>C (p.Gly22=) c.33T>C (p.Gly11=) c.294T>C (p.Gly98=) c.311T>C n.452T>C | |
11 | g.17387798A>T | CA473515790 | KCNJ11 | c.66T>A (p.Gly22=) c.33T>A (p.Gly11=) c.294T>A (p.Gly98=) c.311T>A n.452T>A | |
11 | g.17387799C>A | CA379774684 | KCNJ11 | c.65G>T (p.Gly22Val) c.32G>T (p.Gly11Val) c.293G>T (p.Gly98Val) c.310G>T n.451G>T | |
11 | g.17387799C= | CA1955119399 | KCNJ11 | c.65G= (p.Gly22=) c.32G= (p.Gly11=) c.293G= (p.Gly98=) c.310G= n.451G= | |
11 | g.17387799C>G | CA379774687 | KCNJ11 | c.65G>C (p.Gly22Ala) c.32G>C (p.Gly11Ala) c.293G>C (p.Gly98Ala) c.310G>C n.451G>C | |
11 | g.17387799C>T | CA5902309 | KCNJ11 | c.65G>A (p.Gly22Asp) c.32G>A (p.Gly11Asp) c.293G>A (p.Gly98Asp) c.310G>A n.451G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387799_17387800delinsTT | CA645577919 | KCNJ11 | c.64_65delinsAA (p.Gly22Asn) c.31_32delinsAA (p.Gly11Asn) c.292_293delinsAA (p.Gly98Asn) c.309_310delinsAA n.450_451delinsAA | COSMIC |
11 | g.17387800C>A | CA379774696 | KCNJ11 | c.64G>T (p.Gly22Cys) c.31G>T (p.Gly11Cys) c.292G>T (p.Gly98Cys) c.309G>T n.450G>T | |
11 | g.17387800C= | CA1955119400 | KCNJ11 | c.64G= (p.Gly22=) c.31G= (p.Gly11=) c.292G= (p.Gly98=) c.309G= n.450G= | |
11 | g.17387800C>G | CA379774700 | KCNJ11 | c.64G>C (p.Gly22Arg) c.31G>C (p.Gly11Arg) c.292G>C (p.Gly98Arg) c.309G>C n.450G>C | |
11 | g.17387800C>T | CA379774702 | KCNJ11 | c.64G>A (p.Gly22Ser) c.31G>A (p.Gly11Ser) c.292G>A (p.Gly98Ser) c.309G>A n.450G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387801G>A | CA5902310 | KCNJ11 | c.63C>T (p.His21=) c.30C>T (p.His10=) c.291C>T (p.His97=) c.308C>T n.449C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387801G>C | CA379774712 | KCNJ11 | c.63C>G (p.His21Gln) c.30C>G (p.His10Gln) c.291C>G (p.His97Gln) c.308C>G n.449C>G | |
11 | g.17387801G= | CA1955119401 | KCNJ11 | c.63C= (p.His21=) c.30C= (p.His10=) c.291C= (p.His97=) c.308C= n.449C= | |
11 | g.17387801G>T | CA5902311 | KCNJ11 | c.63C>A (p.His21Gln) c.30C>A (p.His10Gln) c.291C>A (p.His97Gln) c.308C>A n.449C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387801dup | CA912971885 | KCNJ11 | c.63dup (p.Gly22ArgfsTer2) c.30dup (p.Gly11ArgfsTer2) c.291dup (p.Gly98ArgfsTer2) c.308dup n.449dup | |
11 | g.17387802T>A | CA379774744 | KCNJ11 | c.62A>T (p.His21Leu) c.29A>T (p.His10Leu) c.290A>T (p.His97Leu) c.307A>T n.448A>T | |
11 | g.17387802T>C | CA379774742 | KCNJ11 | c.62A>G (p.His21Arg) c.29A>G (p.His10Arg) c.290A>G (p.His97Arg) c.307A>G n.448A>G | |
11 | g.17387802T>G | CA379774738 | KCNJ11 | c.62A>C (p.His21Pro) c.29A>C (p.His10Pro) c.290A>C (p.His97Pro) c.307A>C n.448A>C | |
11 | g.17387802dup | CA658822456 | KCNJ11 | c.62dup (p.His21GlnfsTer3) c.29dup (p.His10GlnfsTer3) c.290dup (p.His97GlnfsTer3) c.307dup n.448dup | ClinVar dbSNP |
11 | g.17387803G>A | CA379774748 | KCNJ11 | c.61C>T (p.His21Tyr) c.28C>T (p.His10Tyr) c.289C>T (p.His97Tyr) c.306C>T n.447C>T | gnomAD v4 |
11 | g.17387803G>C | CA379774751 | KCNJ11 | c.61C>G (p.His21Asp) c.28C>G (p.His10Asp) c.289C>G (p.His97Asp) c.306C>G n.447C>G | |
11 | g.17387803G>T | CA379774755 | KCNJ11 | c.61C>A (p.His21Asn) c.28C>A (p.His10Asn) c.289C>A (p.His97Asn) c.306C>A n.447C>A | |
11 | g.17387804G>A | CA473515791 | KCNJ11 | c.60C>T (p.Ala20=) c.27C>T (p.Ala9=) c.288C>T (p.Ala96=) c.305C>T n.446C>T | |
11 | g.17387804G>C | CA473515792 | KCNJ11 | c.60C>G (p.Ala20=) c.27C>G (p.Ala9=) c.288C>G (p.Ala96=) c.305C>G n.446C>G | |
11 | g.17387804G>T | CA473515793 | KCNJ11 | c.60C>A (p.Ala20=) c.27C>A (p.Ala9=) c.288C>A (p.Ala96=) c.305C>A n.446C>A | |
11 | g.17387804_17387805delinsCA | CA2695213249 | KCNJ11 | c.59_60delinsTG (p.Ala20Val) c.26_27delinsTG (p.Ala9Val) c.287_288delinsTG (p.Ala96Val) c.304_305delinsTG n.445_446delinsTG | |
11 | g.17387805G>A | CA379774758 | KCNJ11 | c.59C>T (p.Ala20Val) c.26C>T (p.Ala9Val) c.287C>T (p.Ala96Val) c.304C>T n.445C>T | gnomAD v4 |
11 | g.17387805G>C | CA379774761 | KCNJ11 | c.59C>G (p.Ala20Gly) c.26C>G (p.Ala9Gly) c.287C>G (p.Ala96Gly) c.304C>G n.445C>G | |
11 | g.17387805G>T | CA379774764 | KCNJ11 | c.59C>A (p.Ala20Asp) c.26C>A (p.Ala9Asp) c.287C>A (p.Ala96Asp) c.304C>A n.445C>A | |
11 | g.17387806C>A | CA379774771 | KCNJ11 | c.58G>T (p.Ala20Ser) c.25G>T (p.Ala9Ser) c.286G>T (p.Ala96Ser) c.303G>T n.444G>T | gnomAD v4 |
11 | g.17387806C= | CA1955119402 | KCNJ11 | c.58G= (p.Ala20=) c.25G= (p.Ala9=) c.286G= (p.Ala96=) c.303G= n.444G= | |
11 | g.17387806C>G | CA379774775 | KCNJ11 | c.58G>C (p.Ala20Pro) c.25G>C (p.Ala9Pro) c.286G>C (p.Ala96Pro) c.303G>C n.444G>C | |
11 | g.17387806C>T | CA5902312 | KCNJ11 | c.58G>A (p.Ala20Thr) c.25G>A (p.Ala9Thr) c.286G>A (p.Ala96Thr) c.303G>A n.444G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387807G>A | CA5902313 | KCNJ11 | c.57C>T (p.Phe19=) c.24C>T (p.Phe8=) c.285C>T (p.Phe95=) c.302C>T n.443C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387807G>C | CA379774782 | KCNJ11 | c.57C>G (p.Phe19Leu) c.24C>G (p.Phe8Leu) c.285C>G (p.Phe95Leu) c.302C>G n.443C>G | |
11 | g.17387807G= | CA1955119403 | KCNJ11 | c.57C= (p.Phe19=) c.24C= (p.Phe8=) c.285C= (p.Phe95=) c.302C= n.443C= | |
11 | g.17387807G>T | CA379774783 | KCNJ11 | c.57C>A (p.Phe19Leu) c.24C>A (p.Phe8Leu) c.285C>A (p.Phe95Leu) c.302C>A n.443C>A | |
11 | g.17387808A>C | CA379774794 | KCNJ11 | c.56T>G (p.Phe19Cys) c.23T>G (p.Phe8Cys) c.284T>G (p.Phe95Cys) c.301T>G n.442T>G | |
11 | g.17387808A>G | CA379774791 | KCNJ11 | c.56T>C (p.Phe19Ser) c.23T>C (p.Phe8Ser) c.284T>C (p.Phe95Ser) c.301T>C n.442T>C | |
11 | g.17387808A>T | CA379774787 | KCNJ11 | c.56T>A (p.Phe19Tyr) c.23T>A (p.Phe8Tyr) c.284T>A (p.Phe95Tyr) c.301T>A n.442T>A | |
11 | g.17387809A>C | CA379774798 | KCNJ11 | c.55T>G (p.Phe19Val) c.22T>G (p.Phe8Val) c.283T>G (p.Phe95Val) c.300T>G n.441T>G | |
11 | g.17387809A>G | CA379774801 | KCNJ11 | c.55T>C (p.Phe19Leu) c.22T>C (p.Phe8Leu) c.283T>C (p.Phe95Leu) c.300T>C n.441T>C | |
11 | g.17387809A>T | CA379774805 | KCNJ11 | c.55T>A (p.Phe19Ile) c.22T>A (p.Phe8Ile) c.283T>A (p.Phe95Ile) c.300T>A n.441T>A | |
11 | g.17387810G>A | CA473515794 | KCNJ11 | c.54C>T (p.Ala18=) c.21C>T (p.Ala7=) c.282C>T (p.Ala94=) c.299C>T n.440C>T | |
11 | g.17387810G>C | CA473515795 | KCNJ11 | c.54C>G (p.Ala18=) c.21C>G (p.Ala7=) c.282C>G (p.Ala94=) c.299C>G n.440C>G | |
11 | g.17387810G>T | CA473515796 | KCNJ11 | c.54C>A (p.Ala18=) c.21C>A (p.Ala7=) c.282C>A (p.Ala94=) c.299C>A n.440C>A | |
11 | g.17387811G>A | CA379774810 | KCNJ11 | c.53C>T (p.Ala18Val) c.20C>T (p.Ala7Val) c.281C>T (p.Ala94Val) c.298C>T n.439C>T | gnomAD v4 |
11 | g.17387811G>C | CA379774814 | KCNJ11 | c.53C>G (p.Ala18Gly) c.20C>G (p.Ala7Gly) c.281C>G (p.Ala94Gly) c.298C>G n.439C>G | |
11 | g.17387811G>T | CA379774818 | KCNJ11 | c.53C>A (p.Ala18Asp) c.20C>A (p.Ala7Asp) c.281C>A (p.Ala94Asp) c.298C>A n.439C>A | gnomAD v3 gnomAD v4 |
11 | g.17387812C>A | CA379774838 | KCNJ11 | c.52G>T (p.Ala18Ser) c.19G>T (p.Ala7Ser) c.280G>T (p.Ala94Ser) c.297G>T n.438G>T | gnomAD v4 |
11 | g.17387812C= | CA1955119404 | KCNJ11 | c.52G= (p.Ala18=) c.19G= (p.Ala7=) c.280G= (p.Ala94=) c.297G= n.438G= | |
11 | g.17387812C>G | CA379774824 | KCNJ11 | c.52G>C (p.Ala18Pro) c.19G>C (p.Ala7Pro) c.280G>C (p.Ala94Pro) c.297G>C n.438G>C | gnomAD v4 |
11 | g.17387812C>T | CA5902314 | KCNJ11 | c.52G>A (p.Ala18Thr) c.19G>A (p.Ala7Thr) c.280G>A (p.Ala94Thr) c.297G>A n.438G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387813G>A | CA5902315 | KCNJ11 | c.51C>T (p.Ile17=) c.18C>T (p.Ile6=) c.279C>T (p.Ile93=) c.296C>T n.437C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387813G>C | CA379774846 | KCNJ11 | c.51C>G (p.Ile17Met) c.18C>G (p.Ile6Met) c.279C>G (p.Ile93Met) c.296C>G n.437C>G | |
11 | g.17387813G= | CA1955119405 | KCNJ11 | c.51C= (p.Ile17=) c.18C= (p.Ile6=) c.279C= (p.Ile93=) c.296C= n.437C= | |
11 | g.17387813G>T | CA473515797 | KCNJ11 | c.51C>A (p.Ile17=) c.18C>A (p.Ile6=) c.279C>A (p.Ile93=) c.296C>A n.437C>A | gnomAD v4 |
11 | g.17387813dup | CA2574767941 | KCNJ11 | c.51dup (p.Ala18ArgfsTer6) c.18dup (p.Ala7ArgfsTer6) c.279dup (p.Ala94ArgfsTer6) c.296dup n.437dup | ClinVar |
11 | g.17387815_17387817dup | CA2695213250 | KCNJ11 | c.49_51dup (p.Ile17_Ala18insIle) c.16_18dup (p.Ile6_Ala7insIle) c.277_279dup (p.Ile93_Ala94insIle) c.294_296dup n.435_437dup | |
11 | g.17387814A>C | CA379774850 | KCNJ11 | c.50T>G (p.Ile17Ser) c.17T>G (p.Ile6Ser) c.278T>G (p.Ile93Ser) c.295T>G n.436T>G | |
11 | g.17387814A>G | CA379774854 | KCNJ11 | c.50T>C (p.Ile17Thr) c.17T>C (p.Ile6Thr) c.278T>C (p.Ile93Thr) c.295T>C n.436T>C | |
11 | g.17387814A>T | CA379774858 | KCNJ11 | c.50T>A (p.Ile17Asn) c.17T>A (p.Ile6Asn) c.278T>A (p.Ile93Asn) c.295T>A n.436T>A | |
11 | g.17387815T>A | CA379774873 | KCNJ11 | c.49A>T (p.Ile17Phe) c.16A>T (p.Ile6Phe) c.277A>T (p.Ile93Phe) c.294A>T n.435A>T | |
11 | g.17387815T>C | CA379774866 | KCNJ11 | c.49A>G (p.Ile17Val) c.16A>G (p.Ile6Val) c.277A>G (p.Ile93Val) c.294A>G n.435A>G | |
11 | g.17387815T>G | CA379774870 | KCNJ11 | c.49A>C (p.Ile17Leu) c.16A>C (p.Ile6Leu) c.277A>C (p.Ile93Leu) c.294A>C n.435A>C | |
11 | g.17387816G>A | CA5902316 | KCNJ11 | c.48C>T (p.Leu16=) c.15C>T (p.Leu5=) c.276C>T (p.Leu92=) c.293C>T n.434C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387816G>C | CA473515799 | KCNJ11 | c.48C>G (p.Leu16=) c.15C>G (p.Leu5=) c.276C>G (p.Leu92=) c.293C>G n.434C>G | |
11 | g.17387816G= | CA1955119406 | KCNJ11 | c.48C= (p.Leu16=) c.15C= (p.Leu5=) c.276C= (p.Leu92=) c.293C= n.434C= | |
11 | g.17387816G>T | CA473515798 | KCNJ11 | c.48C>A (p.Leu16=) c.15C>A (p.Leu5=) c.276C>A (p.Leu92=) c.293C>A n.434C>A | |
11 | g.17387817A>C | CA379774883 | KCNJ11 | c.47T>G (p.Leu16Arg) c.14T>G (p.Leu5Arg) c.275T>G (p.Leu92Arg) c.292T>G n.433T>G | |
11 | g.17387817A>G | CA379774897 | KCNJ11 | c.47T>C (p.Leu16Pro) c.14T>C (p.Leu5Pro) c.275T>C (p.Leu92Pro) c.292T>C n.433T>C | |
11 | g.17387817A>T | CA379774900 | KCNJ11 | c.47T>A (p.Leu16His) c.14T>A (p.Leu5His) c.275T>A (p.Leu92His) c.292T>A n.433T>A | |
11 | g.17387818G>A | CA379774906 | KCNJ11 | c.46C>T (p.Leu16Phe) c.13C>T (p.Leu5Phe) c.274C>T (p.Leu92Phe) c.291C>T n.432C>T | |
11 | g.17387818G>C | CA379774911 | KCNJ11 | c.46C>G (p.Leu16Val) c.13C>G (p.Leu5Val) c.274C>G (p.Leu92Val) c.291C>G n.432C>G | |
11 | g.17387818G>T | CA379774915 | KCNJ11 | c.46C>A (p.Leu16Ile) c.13C>A (p.Leu5Ile) c.274C>A (p.Leu92Ile) c.291C>A n.432C>A | |
11 | g.17387819C>A | CA379774918 | KCNJ11 | c.45G>T (p.Trp15Cys) c.12G>T (p.Trp4Cys) c.273G>T (p.Trp91Cys) c.290G>T n.431G>T | |
11 | g.17387819C>G | CA379774920 | KCNJ11 | c.45G>C (p.Trp15Cys) c.12G>C (p.Trp4Cys) c.273G>C (p.Trp91Cys) c.290G>C n.431G>C | |
11 | g.17387819C>T | CA379774922 | KCNJ11 | c.45G>A (p.Trp15Ter) c.12G>A (p.Trp4Ter) c.273G>A (p.Trp91Ter) c.290G>A n.431G>A | gnomAD v4 |
11 | g.17387820C>A | CA379774926 | KCNJ11 | c.44G>T (p.Trp15Leu) c.11G>T (p.Trp4Leu) c.272G>T (p.Trp91Leu) c.289G>T n.430G>T | |
11 | g.17387820C>G | CA379774928 | KCNJ11 | c.44G>C (p.Trp15Ser) c.11G>C (p.Trp4Ser) c.272G>C (p.Trp91Ser) c.289G>C n.430G>C | |
11 | g.17387820C>T | CA379774930 | KCNJ11 | c.44G>A (p.Trp15Ter) c.11G>A (p.Trp4Ter) c.272G>A (p.Trp91Ter) c.289G>A n.430G>A | |
11 | g.17387821A>C | CA379774934 | KCNJ11 | c.43T>G (p.Trp15Gly) c.10T>G (p.Trp4Gly) c.271T>G (p.Trp91Gly) c.288T>G n.429T>G | |
11 | g.17387821A>G | CA379774937 | KCNJ11 | c.43T>C (p.Trp15Arg) c.10T>C (p.Trp4Arg) c.271T>C (p.Trp91Arg) c.288T>C n.429T>C | ClinVar |
11 | g.17387821A>T | CA379774936 | KCNJ11 | c.43T>A (p.Trp15Arg) c.10T>A (p.Trp4Arg) c.271T>A (p.Trp91Arg) c.288T>A n.429T>A | |
11 | g.17387822C>A | CA379774938 | KCNJ11 | c.42G>T (p.Trp14Cys) c.9G>T (p.Trp3Cys) c.270G>T (p.Trp90Cys) c.287G>T n.428G>T | |
11 | g.17387822C>G | CA379774940 | KCNJ11 | c.42G>C (p.Trp14Cys) c.9G>C (p.Trp3Cys) c.270G>C (p.Trp90Cys) c.287G>C n.428G>C | |
11 | g.17387822C>T | CA379774942 | KCNJ11 | c.42G>A (p.Trp14Ter) c.9G>A (p.Trp3Ter) c.270G>A (p.Trp90Ter) c.287G>A n.428G>A | ClinVar gnomAD v4 |
11 | g.17387823C>A | CA379774946 | KCNJ11 | c.41G>T (p.Trp14Leu) c.8G>T (p.Trp3Leu) c.269G>T (p.Trp90Leu) c.286G>T n.427G>T | |
11 | g.17387823C= | CA1955119407 | KCNJ11 | c.41G= (p.Trp14=) c.8G= (p.Trp3=) c.269G= (p.Trp90=) c.286G= n.427G= | |
11 | g.17387823C>G | CA379774949 | KCNJ11 | c.41G>C (p.Trp14Ser) c.8G>C (p.Trp3Ser) c.269G>C (p.Trp90Ser) c.286G>C n.427G>C | |
11 | g.17387823C>T | CA379774952 | KCNJ11 | c.41G>A (p.Trp14Ter) c.8G>A (p.Trp3Ter) c.269G>A (p.Trp90Ter) c.286G>A n.427G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387824A>C | CA379774955 | KCNJ11 | c.40T>G (p.Trp14Gly) c.7T>G (p.Trp3Gly) c.268T>G (p.Trp90Gly) c.285T>G n.426T>G | |
11 | g.17387824A>G | CA379774958 | KCNJ11 | c.40T>C (p.Trp14Arg) c.7T>C (p.Trp3Arg) c.268T>C (p.Trp90Arg) c.285T>C n.426T>C | gnomAD v4 |
11 | g.17387824A>T | CA379774960 | KCNJ11 | c.40T>A (p.Trp14Arg) c.7T>A (p.Trp3Arg) c.268T>A (p.Trp90Arg) c.285T>A n.426T>A |