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.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=
11g.17387746A>CCA379774280KCNJ11c.118T>G (p.Ser40Ala)
c.85T>G (p.Ser29Ala)
c.346T>G (p.Ser116Ala)
c.363T>G
n.504T>G
11g.17387746A>GCA379774284KCNJ11c.118T>C (p.Ser40Pro)
c.85T>C (p.Ser29Pro)
c.346T>C (p.Ser116Pro)
c.363T>C
n.504T>C
 ClinVar dbSNP gnomAD v4
11g.17387746A>TCA379774286KCNJ11c.118T>A (p.Ser40Thr)
c.85T>A (p.Ser29Thr)
c.346T>A (p.Ser116Thr)
c.363T>A
n.504T>A
11g.17387747G>ACA218399978KCNJ11c.117C>T (p.His39=)
c.84C>T (p.His28=)
c.345C>T (p.His115=)
c.362C>T
n.503C>T
 dbSNP
11g.17387747G>CCA379774292KCNJ11c.117C>G (p.His39Gln)
c.84C>G (p.His28Gln)
c.345C>G (p.His115Gln)
c.362C>G
n.503C>G
11g.17387747G=CA1955119378KCNJ11c.117C= (p.His39=)
c.84C= (p.His28=)
c.345C= (p.His115=)
c.362C=
n.503C=
11g.17387747G>TCA379774294KCNJ11c.117C>A (p.His39Gln)
c.84C>A (p.His28Gln)
c.345C>A (p.His115Gln)
c.362C>A
n.503C>A
11g.17387748T>ACA379774304KCNJ11c.116A>T (p.His39Leu)
c.83A>T (p.His28Leu)
c.344A>T (p.His115Leu)
c.361A>T
n.502A>T
 ClinVar
11g.17387748T>CCA218399984KCNJ11c.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
11g.17387748T>GCA379774299KCNJ11c.116A>C (p.His39Pro)
c.83A>C (p.His28Pro)
c.344A>C (p.His115Pro)
c.361A>C
n.502A>C
11g.17387748T=CA1955119379KCNJ11c.116A= (p.His39=)
c.83A= (p.His28=)
c.344A= (p.His115=)
c.361A=
n.502A=
11g.17387749G>ACA379774309KCNJ11c.115C>T (p.His39Tyr)
c.82C>T (p.His28Tyr)
c.343C>T (p.His115Tyr)
c.360C>T
n.501C>T
11g.17387749G>CCA379774311KCNJ11c.115C>G (p.His39Asp)
c.82C>G (p.His28Asp)
c.343C>G (p.His115Asp)
c.360C>G
n.501C>G
11g.17387749G>TCA379774315KCNJ11c.115C>A (p.His39Asn)
c.82C>A (p.His28Asn)
c.343C>A (p.His115Asn)
c.360C>A
n.501C>A

Number of alleles fetched