Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387726_17387751delCA2695213246KCNJ11c.114_139del (p.His39LeufsTer3)
c.81_106del (p.His28LeufsTer3)
c.342_367del (p.His115LeufsTer3)
c.359_384del
n.500_525del
11g.17387733_17387734delinsGCCA1955119369KCNJ11c.130_131delinsGC (p.Ala44=)
c.97_98delinsGC (p.Ala33=)
c.358_359delinsGC (p.Ala120=)
c.375_376delinsGC
n.516_517delinsGC
11g.17387734delCA597904312KCNJ11c.130del (p.Ala44ProfsTer10)
c.97del (p.Ala33ProfsTer10)
c.358del (p.Ala120ProfsTer10)
c.375del
n.516del
 dbSNP gnomAD v2 gnomAD v4
11g.17387734C>ACA379774186KCNJ11c.130G>T (p.Ala44Ser)
c.97G>T (p.Ala33Ser)
c.358G>T (p.Ala120Ser)
c.375G>T
n.516G>T
11g.17387734C=CA1955119370KCNJ11c.130G= (p.Ala44=)
c.97G= (p.Ala33=)
c.358G= (p.Ala120=)
c.375G=
n.516G=
11g.17387734C>GCA379774189KCNJ11c.130G>C (p.Ala44Pro)
c.97G>C (p.Ala33Pro)
c.358G>C (p.Ala120Pro)
c.375G>C
n.516G>C
11g.17387734C>TCA379774191KCNJ11c.130G>A (p.Ala44Thr)
c.97G>A (p.Ala33Thr)
c.358G>A (p.Ala120Thr)
c.375G>A
n.516G>A
 dbSNP
11g.17387735A=CA1955119371KCNJ11c.129T= (p.Ser43=)
c.96T= (p.Ser32=)
c.357T= (p.Ser119=)
c.374T=
n.515T=
11g.17387735A>CCA473515637KCNJ11c.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
11g.17387735A>GCA473515638KCNJ11c.129T>C (p.Ser43=)
c.96T>C (p.Ser32=)
c.357T>C (p.Ser119=)
c.374T>C
n.515T>C
11g.17387735A>TCA473515640KCNJ11c.129T>A (p.Ser43=)
c.96T>A (p.Ser32=)
c.357T>A (p.Ser119=)
c.374T>A
n.515T>A
11g.17387736G>ACA379774195KCNJ11c.128C>T (p.Ser43Phe)
c.95C>T (p.Ser32Phe)
c.356C>T (p.Ser119Phe)
c.373C>T
n.514C>T
11g.17387736G>CCA379774199KCNJ11c.128C>G (p.Ser43Cys)
c.95C>G (p.Ser32Cys)
c.356C>G (p.Ser119Cys)
c.373C>G
n.514C>G
11g.17387736G>TCA379774212KCNJ11c.128C>A (p.Ser43Tyr)
c.95C>A (p.Ser32Tyr)
c.356C>A (p.Ser119Tyr)
c.373C>A
n.514C>A
11g.17387736dupCA2695213247KCNJ11c.128dup (p.Ala44CysfsTer7)
c.95dup (p.Ala33CysfsTer7)
c.356dup (p.Ala120CysfsTer7)
c.373dup
n.514dup
11g.17387737A=CA1955119372KCNJ11c.127T= (p.Ser43=)
c.94T= (p.Ser32=)
c.355T= (p.Ser119=)
c.372T=
n.513T=
11g.17387737A>CCA5902296KCNJ11c.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
11g.17387737A>GCA379774215KCNJ11c.127T>C (p.Ser43Pro)
c.94T>C (p.Ser32Pro)
c.355T>C (p.Ser119Pro)
c.372T>C
n.513T>C
11g.17387737A>TCA379774217KCNJ11c.127T>A (p.Ser43Thr)
c.94T>A (p.Ser32Thr)
c.355T>A (p.Ser119Thr)
c.372T>A
n.513T>A
11g.17387738C>ACA473515644KCNJ11c.126G>T (p.Ser42=)
c.93G>T (p.Ser31=)
c.354G>T (p.Ser118=)
c.371G>T
n.512G>T
11g.17387738C=CA1955119373KCNJ11c.126G= (p.Ser42=)
c.93G= (p.Ser31=)
c.354G= (p.Ser118=)
c.371G=
n.512G=
11g.17387738C>GCA473515641KCNJ11c.126G>C (p.Ser42=)
c.93G>C (p.Ser31=)
c.354G>C (p.Ser118=)
c.371G>C
n.512G>C
 gnomAD v4
11g.17387738C>TCA5902297KCNJ11c.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
11g.17387739G>ACA5902299KCNJ11c.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
11g.17387739G>CCA379774228KCNJ11c.125C>G (p.Ser42Trp)
c.92C>G (p.Ser31Trp)
c.353C>G (p.Ser118Trp)
c.370C>G
n.511C>G
11g.17387739G=CA1955119375KCNJ11c.125C= (p.Ser42=)
c.92C= (p.Ser31=)
c.353C= (p.Ser118=)
c.370C=
n.511C=
11g.17387739G>TCA379774230KCNJ11c.125C>A (p.Ser42Ter)
c.92C>A (p.Ser31Ter)
c.353C>A (p.Ser118Ter)
c.370C>A
n.511C>A
11g.17387739_17387742delinsGAGACA1955119374KCNJ11c.122_125delinsTCTC (p.Phe41=)
c.89_92delinsTCTC (p.Phe30=)
c.350_353delinsTCTC (p.Phe117=)
c.367_370delinsTCTC
n.508_511delinsTCTC
11g.17387742_17387747delCA2695213248KCNJ11c.120_125del (p.Phe41_Ser42del)
c.87_92del (p.Phe30_Ser31del)
c.348_353del (p.Phe117_Ser118del)
c.365_370del
n.506_511del
11g.17387740A>CCA379774236KCNJ11c.124T>G (p.Ser42Ala)
c.91T>G (p.Ser31Ala)
c.352T>G (p.Ser118Ala)
c.369T>G
n.510T>G
11g.17387740A>GCA379774238KCNJ11c.124T>C (p.Ser42Pro)
c.91T>C (p.Ser31Pro)
c.352T>C (p.Ser118Pro)
c.369T>C
n.510T>C
11g.17387740A>TCA379774241KCNJ11c.124T>A (p.Ser42Thr)
c.91T>A (p.Ser31Thr)
c.352T>A (p.Ser118Thr)
c.369T>A
n.510T>A
11g.17387742_17387744delCA5902298KCNJ11c.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
11g.17387741G>ACA473515646KCNJ11c.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
11g.17387741G>CCA379774246KCNJ11c.123C>G (p.Phe41Leu)
c.90C>G (p.Phe30Leu)
c.351C>G (p.Phe117Leu)
c.368C>G
n.509C>G
11g.17387741G=CA1955119376KCNJ11c.123C= (p.Phe41=)
c.90C= (p.Phe30=)
c.351C= (p.Phe117=)
c.368C=
n.509C=
11g.17387741G>TCA379774248KCNJ11c.123C>A (p.Phe41Leu)
c.90C>A (p.Phe30Leu)
c.351C>A (p.Phe117Leu)
c.368C>A
n.509C>A
11g.17387742A>CCA379774256KCNJ11c.122T>G (p.Phe41Cys)
c.89T>G (p.Phe30Cys)
c.350T>G (p.Phe117Cys)
c.367T>G
n.508T>G
11g.17387742A>GCA379774254KCNJ11c.122T>C (p.Phe41Ser)
c.89T>C (p.Phe30Ser)
c.350T>C (p.Phe117Ser)
c.367T>C
n.508T>C
11g.17387742A>TCA379774251KCNJ11c.122T>A (p.Phe41Tyr)
c.89T>A (p.Phe30Tyr)
c.350T>A (p.Phe117Tyr)
c.367T>A
n.508T>A
11g.17387743A>CCA379774260KCNJ11c.121T>G (p.Phe41Val)
c.88T>G (p.Phe30Val)
c.349T>G (p.Phe117Val)
c.366T>G
n.507T>G
11g.17387743A>GCA379774263KCNJ11c.121T>C (p.Phe41Leu)
c.88T>C (p.Phe30Leu)
c.349T>C (p.Phe117Leu)
c.366T>C
n.507T>C
11g.17387743A>TCA379774265KCNJ11c.121T>A (p.Phe41Ile)
c.88T>A (p.Phe30Ile)
c.349T>A (p.Phe117Ile)
c.366T>A
n.507T>A
11g.17387744G>ACA473515650KCNJ11c.120C>T (p.Ser40=)
c.87C>T (p.Ser29=)
c.348C>T (p.Ser116=)
c.365C>T
n.506C>T
 gnomAD v4
11g.17387744G>CCA473515651KCNJ11c.120C>G (p.Ser40=)
c.87C>G (p.Ser29=)
c.348C>G (p.Ser116=)
c.365C>G
n.506C>G
11g.17387744G>TCA473515652KCNJ11c.120C>A (p.Ser40=)
c.87C>A (p.Ser29=)
c.348C>A (p.Ser116=)
c.365C>A
n.506C>A
11g.17387745G>ACA379774270KCNJ11c.119C>T (p.Ser40Phe)
c.86C>T (p.Ser29Phe)
c.347C>T (p.Ser116Phe)
c.364C>T
n.505C>T
11g.17387745G>CCA379774273KCNJ11c.119C>G (p.Ser40Cys)
c.86C>G (p.Ser29Cys)
c.347C>G (p.Ser116Cys)
c.364C>G
n.505C>G
11g.17387745G>TCA379774275KCNJ11c.119C>A (p.Ser40Tyr)
c.86C>A (p.Ser29Tyr)
c.347C>A (p.Ser116Tyr)
c.364C>A
n.505C>A
11g.17387746A=CA1955119377KCNJ11c.118T= (p.Ser40=)
c.85T= (p.Ser29=)
c.346T= (p.Ser116=)
c.363T=
n.504T=

Number of alleles fetched