Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839911T>ACA477703620KCNJ1c.333A>T (p.Ser111=)
c.390A>T (p.Ser130=)
c.384A>T (p.Ser128=)
11g.128839911T>CCA477703621KCNJ1c.333A>G (p.Ser111=)
c.390A>G (p.Ser130=)
c.384A>G (p.Ser128=)
11g.128839911T>GCA477703623KCNJ1c.333A>C (p.Ser111=)
c.390A>C (p.Ser130=)
c.384A>C (p.Ser128=)
dbSNP
11g.128839911T=CA2008251276KCNJ1c.333A= (p.Ser111=)
c.390A= (p.Ser130=)
c.384A= (p.Ser128=)
11g.128839912G>ACA383245892KCNJ1c.332C>T (p.Ser111Leu)
c.389C>T (p.Ser130Leu)
c.383C>T (p.Ser128Leu)
11g.128839912G>CCA383245897KCNJ1c.332C>G (p.Ser111Ter)
c.389C>G (p.Ser130Ter)
c.383C>G (p.Ser128Ter)
11g.128839912G>TCA383245894KCNJ1c.332C>A (p.Ser111Ter)
c.389C>A (p.Ser130Ter)
c.383C>A (p.Ser128Ter)
11g.128839913A>CCA383245904KCNJ1c.331T>G (p.Ser111Ala)
c.388T>G (p.Ser130Ala)
c.382T>G (p.Ser128Ala)
11g.128839913A>GCA383245906KCNJ1c.331T>C (p.Ser111Pro)
c.388T>C (p.Ser130Pro)
c.382T>C (p.Ser128Pro)
11g.128839913A>TCA383245911KCNJ1c.331T>A (p.Ser111Thr)
c.388T>A (p.Ser130Thr)
c.382T>A (p.Ser128Thr)
11g.128839914G>ACA230628761KCNJ1c.330C>T (p.Thr110=)
c.387C>T (p.Thr129=)
c.381C>T (p.Thr127=)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.128839914G>CCA477703031KCNJ1c.330C>G (p.Thr110=)
c.387C>G (p.Thr129=)
c.381C>G (p.Thr127=)
11g.128839914G=CA2008251277KCNJ1c.330C= (p.Thr110=)
c.387C= (p.Thr129=)
c.381C= (p.Thr127=)
11g.128839914G>TCA477703032KCNJ1c.330C>A (p.Thr110=)
c.387C>A (p.Thr129=)
c.381C>A (p.Thr127=)
11g.128839915G>ACA6357532KCNJ1c.329C>T (p.Thr110Ile)
c.386C>T (p.Thr129Ile)
c.380C>T (p.Thr127Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839915G>CCA383245940KCNJ1c.329C>G (p.Thr110Ser)
c.386C>G (p.Thr129Ser)
c.380C>G (p.Thr127Ser)
11g.128839915G=CA2008251280KCNJ1c.329C= (p.Thr110=)
c.386C= (p.Thr129=)
c.380C= (p.Thr127=)
11g.128839915G>TCA383245942KCNJ1c.329C>A (p.Thr110Asn)
c.386C>A (p.Thr129Asn)
c.380C>A (p.Thr127Asn)
11g.128839916T>ACA383245944KCNJ1c.328A>T (p.Thr110Ser)
c.385A>T (p.Thr129Ser)
c.379A>T (p.Thr127Ser)
gnomAD v4
11g.128839916T>CCA6357533KCNJ1c.328A>G (p.Thr110Ala)
c.385A>G (p.Thr129Ala)
c.379A>G (p.Thr127Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839916T>GCA383245950KCNJ1c.328A>C (p.Thr110Pro)
c.385A>C (p.Thr129Pro)
c.379A>C (p.Thr127Pro)
11g.128839916T=CA2008251285KCNJ1c.328A= (p.Thr110=)
c.385A= (p.Thr129=)
c.379A= (p.Thr127=)
11g.128839917C>ACA383245956KCNJ1c.327G>T (p.Leu109Phe)
c.384G>T (p.Leu128Phe)
c.378G>T (p.Leu126Phe)
dbSNP gnomAD v2
11g.128839917C=CA2008251286KCNJ1c.327G= (p.Leu109=)
c.384G= (p.Leu128=)
c.378G= (p.Leu126=)
11g.128839917C>GCA383245964KCNJ1c.327G>C (p.Leu109Phe)
c.384G>C (p.Leu128Phe)
c.378G>C (p.Leu126Phe)
11g.128839917C>TCA477703035KCNJ1c.327G>A (p.Leu109=)
c.384G>A (p.Leu128=)
c.378G>A (p.Leu126=)
11g.128839918A=CA2008251287KCNJ1c.326T= (p.Leu109=)
c.383T= (p.Leu128=)
c.377T= (p.Leu126=)
11g.128839918A>CCA383245967KCNJ1c.326T>G (p.Leu109Trp)
c.383T>G (p.Leu128Trp)
c.377T>G (p.Leu126Trp)
11g.128839918A>GCA383245968KCNJ1c.326T>C (p.Leu109Ser)
c.383T>C (p.Leu128Ser)
c.377T>C (p.Leu126Ser)
dbSNP gnomAD v2
11g.128839918A>TCA383245969KCNJ1c.326T>A (p.Leu109Ter)
c.383T>A (p.Leu128Ter)
c.377T>A (p.Leu126Ter)
11g.128839919A>CCA383245971KCNJ1c.325T>G (p.Leu109Val)
c.382T>G (p.Leu128Val)
c.376T>G (p.Leu126Val)
11g.128839919A>GCA477703039KCNJ1c.325T>C (p.Leu109=)
c.382T>C (p.Leu128=)
c.376T>C (p.Leu126=)
11g.128839919A>TCA383245974KCNJ1c.325T>A (p.Leu109Met)
c.382T>A (p.Leu128Met)
c.376T>A (p.Leu126Met)
11g.128839920G>ACA477703042KCNJ1c.324C>T (p.Gly108=)
c.381C>T (p.Gly127=)
c.375C>T (p.Gly125=)
gnomAD v4
11g.128839920G>CCA477703040KCNJ1c.324C>G (p.Gly108=)
c.381C>G (p.Gly127=)
c.375C>G (p.Gly125=)
11g.128839920G>TCA477703041KCNJ1c.324C>A (p.Gly108=)
c.381C>A (p.Gly127=)
c.375C>A (p.Gly125=)
11g.128839921C>ACA383245986KCNJ1c.323G>T (p.Gly108Val)
c.380G>T (p.Gly127Val)
c.374G>T (p.Gly125Val)
11g.128839921C=CA2008251290KCNJ1c.323G= (p.Gly108=)
c.380G= (p.Gly127=)
c.374G= (p.Gly125=)
11g.128839921C>GCA383245988KCNJ1c.323G>C (p.Gly108Ala)
c.380G>C (p.Gly127Ala)
c.374G>C (p.Gly125Ala)
11g.128839921C>TCA383245991KCNJ1c.323G>A (p.Gly108Asp)
c.380G>A (p.Gly127Asp)
c.374G>A (p.Gly125Asp)
dbSNP gnomAD v4
11g.128839922C>ACA383245995KCNJ1c.322G>T (p.Gly108Cys)
c.379G>T (p.Gly127Cys)
c.373G>T (p.Gly125Cys)
11g.128839922C=CA2008251293KCNJ1c.322G= (p.Gly108=)
c.379G= (p.Gly127=)
c.373G= (p.Gly125=)
11g.128839922C>GCA383245999KCNJ1c.322G>C (p.Gly108Arg)
c.379G>C (p.Gly127Arg)
c.373G>C (p.Gly125Arg)
11g.128839922C>TCA6357534KCNJ1c.322G>A (p.Gly108Ser)
c.379G>A (p.Gly127Ser)
c.373G>A (p.Gly125Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839923A=CA2008251297KCNJ1c.321T= (p.Asn107=)
c.378T= (p.Asn126=)
c.372T= (p.Asn124=)
11g.128839923A>CCA383246012KCNJ1c.321T>G (p.Asn107Lys)
c.378T>G (p.Asn126Lys)
c.372T>G (p.Asn124Lys)
11g.128839923A>GCA230628778KCNJ1c.321T>C (p.Asn107=)
c.378T>C (p.Asn126=)
c.372T>C (p.Asn124=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839923A>TCA383246014KCNJ1c.321T>A (p.Asn107Lys)
c.378T>A (p.Asn126Lys)
c.372T>A (p.Asn124Lys)
11g.128839924T>ACA383246017KCNJ1c.320A>T (p.Asn107Ile)
c.377A>T (p.Asn126Ile)
c.371A>T (p.Asn124Ile)
11g.128839924T>CCA383246019KCNJ1c.320A>G (p.Asn107Ser)
c.377A>G (p.Asn126Ser)
c.371A>G (p.Asn124Ser)
11g.128839924T>GCA383246022KCNJ1c.320A>C (p.Asn107Thr)
c.377A>C (p.Asn126Thr)
c.371A>C (p.Asn124Thr)
11g.128839925T>ACA383246034KCNJ1c.319A>T (p.Asn107Tyr)
c.376A>T (p.Asn126Tyr)
c.370A>T (p.Asn124Tyr)
dbSNP gnomAD v4
11g.128839925T>CCA383246031KCNJ1c.319A>G (p.Asn107Asp)
c.376A>G (p.Asn126Asp)
c.370A>G (p.Asn124Asp)
11g.128839925T>GCA383246027KCNJ1c.319A>C (p.Asn107His)
c.376A>C (p.Asn126His)
c.370A>C (p.Asn124His)
11g.128839925T=CA2008251301KCNJ1c.319A= (p.Asn107=)
c.376A= (p.Asn126=)
c.370A= (p.Asn124=)
11g.128839926A=CA2008251304KCNJ1c.318T= (p.Ile106=)
c.375T= (p.Ile125=)
c.369T= (p.Ile123=)
11g.128839926A>CCA383246038KCNJ1c.318T>G (p.Ile106Met)
c.375T>G (p.Ile125Met)
c.369T>G (p.Ile123Met)
dbSNP gnomAD v3 gnomAD v4
11g.128839926A>GCA477703048KCNJ1c.318T>C (p.Ile106=)
c.375T>C (p.Ile125=)
c.369T>C (p.Ile123=)
dbSNP gnomAD v4
11g.128839926A>TCA477703049KCNJ1c.318T>A (p.Ile106=)
c.375T>A (p.Ile125=)
c.369T>A (p.Ile123=)
11g.128839927A>CCA383246046KCNJ1c.317T>G (p.Ile106Ser)
c.374T>G (p.Ile125Ser)
c.368T>G (p.Ile123Ser)
11g.128839927A>GCA383246041KCNJ1c.317T>C (p.Ile106Thr)
c.374T>C (p.Ile125Thr)
c.368T>C (p.Ile123Thr)
11g.128839927A>TCA383246047KCNJ1c.317T>A (p.Ile106Asn)
c.374T>A (p.Ile125Asn)
c.368T>A (p.Ile123Asn)
11g.128839927_128839930delinsATATCA2008251307KCNJ1c.314_317delinsATAT (p.Asn105=)
c.371_374delinsATAT (p.Asn124=)
c.365_368delinsATAT (p.Asn122=)
11g.128839928T>ACA383246048KCNJ1c.316A>T (p.Ile106Phe)
c.373A>T (p.Ile125Phe)
c.367A>T (p.Ile123Phe)
11g.128839928T>CCA383246049KCNJ1c.316A>G (p.Ile106Val)
c.373A>G (p.Ile125Val)
c.367A>G (p.Ile123Val)
gnomAD v4
11g.128839928T>GCA383246052KCNJ1c.316A>C (p.Ile106Leu)
c.373A>C (p.Ile125Leu)
c.367A>C (p.Ile123Leu)
11g.128839929_128839931delCA602585822KCNJ1c.314_316del (p.Asn105del)
c.371_373del (p.Asn124del)
c.365_367del (p.Asn122del)
dbSNP gnomAD v2
11g.128839929A=CA2008251317KCNJ1c.315T= (p.Asn105=)
c.372T= (p.Asn124=)
c.366T= (p.Asn122=)
11g.128839929A>CCA383246056KCNJ1c.315T>G (p.Asn105Lys)
c.372T>G (p.Asn124Lys)
c.366T>G (p.Asn122Lys)
11g.128839929A>GCA230628785KCNJ1c.315T>C (p.Asn105=)
c.372T>C (p.Asn124=)
c.366T>C (p.Asn122=)
ClinVar dbSNP
11g.128839929A>TCA120164KCNJ1c.315T>A (p.Asn105Lys)
c.372T>A (p.Asn124Lys)
c.366T>A (p.Asn122Lys)
ClinVar dbSNP
11g.128839930T>ACA383246057KCNJ1c.314A>T (p.Asn105Ile)
c.371A>T (p.Asn124Ile)
c.365A>T (p.Asn122Ile)
11g.128839930T>CCA383246060KCNJ1c.314A>G (p.Asn105Ser)
c.371A>G (p.Asn124Ser)
c.365A>G (p.Asn122Ser)
dbSNP
11g.128839930T>GCA383246062KCNJ1c.314A>C (p.Asn105Thr)
c.371A>C (p.Asn124Thr)
c.365A>C (p.Asn122Thr)
11g.128839930T=CA2008251321KCNJ1c.314A= (p.Asn105=)
c.371A= (p.Asn124=)
c.365A= (p.Asn122=)
11g.128839931T>ACA383246063KCNJ1c.313A>T (p.Asn105Tyr)
c.370A>T (p.Asn124Tyr)
c.364A>T (p.Asn122Tyr)
11g.128839931T>CCA383246064KCNJ1c.313A>G (p.Asn105Asp)
c.370A>G (p.Asn124Asp)
c.364A>G (p.Asn122Asp)
dbSNP
11g.128839931T>GCA383246065KCNJ1c.313A>C (p.Asn105His)
c.370A>C (p.Asn124His)
c.364A>C (p.Asn122His)
11g.128839931T=CA2008251327KCNJ1c.313A= (p.Asn105=)
c.370A= (p.Asn124=)
c.364A= (p.Asn122=)
11g.128839932C>ACA383246071KCNJ1c.312G>T (p.Glu104Asp)
c.369G>T (p.Glu123Asp)
c.363G>T (p.Glu121Asp)
11g.128839932C>GCA383246068KCNJ1c.312G>C (p.Glu104Asp)
c.369G>C (p.Glu123Asp)
c.363G>C (p.Glu121Asp)
11g.128839932C>TCA477703052KCNJ1c.312G>A (p.Glu104=)
c.369G>A (p.Glu123=)
c.363G>A (p.Glu121=)
11g.128839933T>ACA383246074KCNJ1c.311A>T (p.Glu104Val)
c.368A>T (p.Glu123Val)
c.362A>T (p.Glu121Val)
11g.128839933T>CCA383246076KCNJ1c.311A>G (p.Glu104Gly)
c.368A>G (p.Glu123Gly)
c.362A>G (p.Glu121Gly)
11g.128839933T>GCA383246079KCNJ1c.311A>C (p.Glu104Ala)
c.368A>C (p.Glu123Ala)
c.362A>C (p.Glu121Ala)
11g.128839934C>ACA383246083KCNJ1c.310G>T (p.Glu104Ter)
c.367G>T (p.Glu123Ter)
c.361G>T (p.Glu121Ter)
11g.128839934C=CA2008251328KCNJ1c.310G= (p.Glu104=)
c.367G= (p.Glu123=)
c.361G= (p.Glu121=)
11g.128839934C>GCA383246087KCNJ1c.310G>C (p.Glu104Gln)
c.367G>C (p.Glu123Gln)
c.361G>C (p.Glu121Gln)
11g.128839934C>TCA383246092KCNJ1c.310G>A (p.Glu104Lys)
c.367G>A (p.Glu123Lys)
c.361G>A (p.Glu121Lys)
dbSNP gnomAD v4
11g.128839935C>ACA477703054KCNJ1c.309G>T (p.Val103=)
c.366G>T (p.Val122=)
c.360G>T (p.Val120=)
11g.128839935C>GCA477703055KCNJ1c.309G>C (p.Val103=)
c.366G>C (p.Val122=)
c.360G>C (p.Val120=)
11g.128839935C>TCA477703056KCNJ1c.309G>A (p.Val103=)
c.366G>A (p.Val122=)
c.360G>A (p.Val120=)
11g.128839936A=CA2008251333KCNJ1c.308T= (p.Val103=)
c.365T= (p.Val122=)
c.359T= (p.Val120=)
11g.128839936A>CCA383246099KCNJ1c.308T>G (p.Val103Gly)
c.365T>G (p.Val122Gly)
c.359T>G (p.Val120Gly)
11g.128839936A>GCA6357535KCNJ1c.308T>C (p.Val103Ala)
c.365T>C (p.Val122Ala)
c.359T>C (p.Val120Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839936A>TCA383246103KCNJ1c.308T>A (p.Val103Glu)
c.365T>A (p.Val122Glu)
c.359T>A (p.Val120Glu)
dbSNP gnomAD v3 gnomAD v4
11g.128839937C>ACA383246110KCNJ1c.307G>T (p.Val103Leu)
c.364G>T (p.Val122Leu)
c.358G>T (p.Val120Leu)
11g.128839937C>GCA383246111KCNJ1c.307G>C (p.Val103Leu)
c.364G>C (p.Val122Leu)
c.358G>C (p.Val120Leu)
11g.128839937C>TCA383246114KCNJ1c.307G>A (p.Val103Met)
c.364G>A (p.Val122Met)
c.358G>A (p.Val120Met)
gnomAD v4
11g.128839938A>CCA383246120KCNJ1c.306T>G (p.Cys102Trp)
c.363T>G (p.Cys121Trp)
c.357T>G (p.Cys119Trp)
11g.128839938A>GCA477703060KCNJ1c.306T>C (p.Cys102=)
c.363T>C (p.Cys121=)
c.357T>C (p.Cys119=)
11g.128839938A>TCA383246119KCNJ1c.306T>A (p.Cys102Ter)
c.363T>A (p.Cys121Ter)
c.357T>A (p.Cys119Ter)
11g.128839939C>ACA383246124KCNJ1c.305G>T (p.Cys102Phe)
c.362G>T (p.Cys121Phe)
c.356G>T (p.Cys119Phe)
11g.128839939C=CA2008251367KCNJ1c.305G= (p.Cys102=)
c.362G= (p.Cys121=)
c.356G= (p.Cys119=)
11g.128839939C>GCA383246127KCNJ1c.305G>C (p.Cys102Ser)
c.362G>C (p.Cys121Ser)
c.356G>C (p.Cys119Ser)
11g.128839939C>TCA383246128KCNJ1c.305G>A (p.Cys102Tyr)
c.362G>A (p.Cys121Tyr)
c.356G>A (p.Cys119Tyr)
ClinVar dbSNP gnomAD v4
11g.128839940A=CA2008251375KCNJ1c.304T= (p.Cys102=)
c.361T= (p.Cys121=)
c.355T= (p.Cys119=)
11g.128839940A>CCA383246130KCNJ1c.304T>G (p.Cys102Gly)
c.361T>G (p.Cys121Gly)
c.355T>G (p.Cys119Gly)
11g.128839940A>GCA383246131KCNJ1c.304T>C (p.Cys102Arg)
c.361T>C (p.Cys121Arg)
c.355T>C (p.Cys119Arg)
dbSNP gnomAD v3 gnomAD v4
11g.128839940A>TCA383246132KCNJ1c.304T>A (p.Cys102Ser)
c.361T>A (p.Cys121Ser)
c.355T>A (p.Cys119Ser)
11g.128839941G>ACA477703065KCNJ1c.303C>T (p.Pro101=)
c.360C>T (p.Pro120=)
c.354C>T (p.Pro118=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839941G>CCA477703066KCNJ1c.303C>G (p.Pro101=)
c.360C>G (p.Pro120=)
c.354C>G (p.Pro118=)
gnomAD v4
11g.128839941G=CA2008251378KCNJ1c.303C= (p.Pro101=)
c.360C= (p.Pro120=)
c.354C= (p.Pro118=)
11g.128839941G>TCA477703064KCNJ1c.303C>A (p.Pro101=)
c.360C>A (p.Pro120=)
c.354C>A (p.Pro118=)
11g.128839943delCA2616771386KCNJ1c.303del (p.Cys102ValfsTer8)
c.360del (p.Cys121ValfsTer8)
c.354del (p.Cys119ValfsTer8)
gnomAD v4
11g.128839942G>ACA230628822KCNJ1c.302C>T (p.Pro101Leu)
c.359C>T (p.Pro120Leu)
c.353C>T (p.Pro118Leu)
ClinVar dbSNP gnomAD v4
11g.128839942G>CCA383246135KCNJ1c.302C>G (p.Pro101Arg)
c.359C>G (p.Pro120Arg)
c.353C>G (p.Pro118Arg)
11g.128839942G=CA2008251386KCNJ1c.302C= (p.Pro101=)
c.359C= (p.Pro120=)
c.353C= (p.Pro118=)
11g.128839942G>TCA383246149KCNJ1c.302C>A (p.Pro101His)
c.359C>A (p.Pro120His)
c.353C>A (p.Pro118His)
11g.128839943G>ACA383246152KCNJ1c.301C>T (p.Pro101Ser)
c.358C>T (p.Pro120Ser)
c.352C>T (p.Pro118Ser)
dbSNP gnomAD v4
11g.128839943G>CCA383246153KCNJ1c.301C>G (p.Pro101Ala)
c.358C>G (p.Pro120Ala)
c.352C>G (p.Pro118Ala)
11g.128839943G=CA2008251393KCNJ1c.301C= (p.Pro101=)
c.358C= (p.Pro120=)
c.352C= (p.Pro118=)
11g.128839943G>TCA383246154KCNJ1c.301C>A (p.Pro101Thr)
c.358C>A (p.Pro120Thr)
c.352C>A (p.Pro118Thr)
11g.128839943_128839955delinsGAGTGTGATTGGCCA2008251390KCNJ1c.289_301delinsGCCAATCACACTC (p.Ala97=)
c.346_358delinsGCCAATCACACTC (p.Ala116=)
c.340_352delinsGCCAATCACACTC (p.Ala114=)
11g.128839944A>CCA477703070KCNJ1c.300T>G (p.Thr100=)
c.357T>G (p.Thr119=)
c.351T>G (p.Thr117=)
gnomAD v4
11g.128839944A>GCA477703072KCNJ1c.300T>C (p.Thr100=)
c.357T>C (p.Thr119=)
c.351T>C (p.Thr117=)
11g.128839944A>TCA477703071KCNJ1c.300T>A (p.Thr100=)
c.357T>A (p.Thr119=)
c.351T>A (p.Thr117=)
11g.128839946_128839957delCA6357536KCNJ1c.289_300del (p.Ala97_Thr100del)
c.346_357del (p.Ala116_Thr119del)
c.340_351del (p.Ala114_Thr117del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839945G>ACA383246164KCNJ1c.299C>T (p.Thr100Ile)
c.356C>T (p.Thr119Ile)
c.350C>T (p.Thr117Ile)
11g.128839945G>CCA383246159KCNJ1c.299C>G (p.Thr100Ser)
c.356C>G (p.Thr119Ser)
c.350C>G (p.Thr117Ser)
11g.128839945G>TCA383246162KCNJ1c.299C>A (p.Thr100Asn)
c.356C>A (p.Thr119Asn)
c.350C>A (p.Thr117Asn)
11g.128839946T>ACA383246166KCNJ1c.298A>T (p.Thr100Ser)
c.355A>T (p.Thr119Ser)
c.349A>T (p.Thr117Ser)
11g.128839946T>CCA6357537KCNJ1c.298A>G (p.Thr100Ala)
c.355A>G (p.Thr119Ala)
c.349A>G (p.Thr117Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839946T>GCA383246171KCNJ1c.298A>C (p.Thr100Pro)
c.355A>C (p.Thr119Pro)
c.349A>C (p.Thr117Pro)
11g.128839946T=CA2008251397KCNJ1c.298A= (p.Thr100=)
c.355A= (p.Thr119=)
c.349A= (p.Thr117=)
11g.128839947G>ACA477703074KCNJ1c.297C>T (p.His99=)
c.354C>T (p.His118=)
c.348C>T (p.His116=)
dbSNP gnomAD v2 gnomAD v4
11g.128839947G>CCA383246173KCNJ1c.297C>G (p.His99Gln)
c.354C>G (p.His118Gln)
c.348C>G (p.His116Gln)
11g.128839947G=CA2008251401KCNJ1c.297C= (p.His99=)
c.354C= (p.His118=)
c.348C= (p.His116=)
11g.128839947G>TCA383246175KCNJ1c.297C>A (p.His99Gln)
c.354C>A (p.His118Gln)
c.348C>A (p.His116Gln)
11g.128839948T>ACA383246179KCNJ1c.296A>T (p.His99Leu)
c.353A>T (p.His118Leu)
c.347A>T (p.His116Leu)
11g.128839948T>CCA6357538KCNJ1c.296A>G (p.His99Arg)
c.353A>G (p.His118Arg)
c.347A>G (p.His116Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839948T>GCA383246181KCNJ1c.296A>C (p.His99Pro)
c.353A>C (p.His118Pro)
c.347A>C (p.His116Pro)
11g.128839948T=CA2008251405KCNJ1c.296A= (p.His99=)
c.353A= (p.His118=)
c.347A= (p.His116=)
11g.128839949G>ACA6357539KCNJ1c.295C>T (p.His99Tyr)
c.352C>T (p.His118Tyr)
c.346C>T (p.His116Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839949G>CCA383246186KCNJ1c.295C>G (p.His99Asp)
c.352C>G (p.His118Asp)
c.346C>G (p.His116Asp)
11g.128839949G=CA2008251408KCNJ1c.295C= (p.His99=)
c.352C= (p.His118=)
c.346C= (p.His116=)
11g.128839949G>TCA383246188KCNJ1c.295C>A (p.His99Asn)
c.352C>A (p.His118Asn)
c.346C>A (p.His116Asn)
11g.128839950A>CCA383246193KCNJ1c.294T>G (p.Asn98Lys)
c.351T>G (p.Asn117Lys)
c.345T>G (p.Asn115Lys)
ClinVar gnomAD v4
11g.128839950A>GCA477703075KCNJ1c.294T>C (p.Asn98=)
c.351T>C (p.Asn117=)
c.345T>C (p.Asn115=)
11g.128839950A>TCA383246195KCNJ1c.294T>A (p.Asn98Lys)
c.351T>A (p.Asn117Lys)
c.345T>A (p.Asn115Lys)
11g.128839951T>ACA383246197KCNJ1c.293A>T (p.Asn98Ile)
c.350A>T (p.Asn117Ile)
c.344A>T (p.Asn115Ile)
11g.128839951T>CCA6357540KCNJ1c.293A>G (p.Asn98Ser)
c.350A>G (p.Asn117Ser)
c.344A>G (p.Asn115Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839951T>GCA383246196KCNJ1c.293A>C (p.Asn98Thr)
c.350A>C (p.Asn117Thr)
c.344A>C (p.Asn115Thr)
gnomAD v4
11g.128839951T=CA2008251415KCNJ1c.293A= (p.Asn98=)
c.350A= (p.Asn117=)
c.344A= (p.Asn115=)
11g.128839952T>ACA383246202KCNJ1c.292A>T (p.Asn98Tyr)
c.349A>T (p.Asn117Tyr)
c.343A>T (p.Asn115Tyr)
11g.128839952T>CCA383246199KCNJ1c.292A>G (p.Asn98Asp)
c.349A>G (p.Asn117Asp)
c.343A>G (p.Asn115Asp)
11g.128839952T>GCA383246200KCNJ1c.292A>C (p.Asn98His)
c.349A>C (p.Asn117His)
c.343A>C (p.Asn115His)
11g.128839953G>ACA477703079KCNJ1c.291C>T (p.Ala97=)
c.348C>T (p.Ala116=)
c.342C>T (p.Ala114=)
gnomAD v4
11g.128839953G>CCA477703081KCNJ1c.291C>G (p.Ala97=)
c.348C>G (p.Ala116=)
c.342C>G (p.Ala114=)
11g.128839953G>TCA477703082KCNJ1c.291C>A (p.Ala97=)
c.348C>A (p.Ala116=)
c.342C>A (p.Ala114=)
11g.128839954G>ACA383246207KCNJ1c.290C>T (p.Ala97Val)
c.347C>T (p.Ala116Val)
c.341C>T (p.Ala114Val)
11g.128839954G>CCA383246209KCNJ1c.290C>G (p.Ala97Gly)
c.347C>G (p.Ala116Gly)
c.341C>G (p.Ala114Gly)
COSMIC
11g.128839954G>TCA383246210KCNJ1c.290C>A (p.Ala97Asp)
c.347C>A (p.Ala116Asp)
c.341C>A (p.Ala114Asp)
11g.128839955C>ACA383246215KCNJ1c.289G>T (p.Ala97Ser)
c.346G>T (p.Ala116Ser)
c.340G>T (p.Ala114Ser)
dbSNP gnomAD v4
11g.128839955C=CA2008251418KCNJ1c.289G= (p.Ala97=)
c.346G= (p.Ala116=)
c.340G= (p.Ala114=)
11g.128839955C>GCA383246214KCNJ1c.289G>C (p.Ala97Pro)
c.346G>C (p.Ala116Pro)
c.340G>C (p.Ala114Pro)
11g.128839955C>TCA383246213KCNJ1c.289G>A (p.Ala97Thr)
c.346G>A (p.Ala116Thr)
c.340G>A (p.Ala114Thr)
dbSNP gnomAD v3 gnomAD v4
11g.128839956A>CCA477703087KCNJ1c.288T>G (p.Ser96=)
c.345T>G (p.Ser115=)
c.339T>G (p.Ser113=)
11g.128839956A>GCA477703088KCNJ1c.288T>C (p.Ser96=)
c.345T>C (p.Ser115=)
c.339T>C (p.Ser113=)
11g.128839956A>TCA477703089KCNJ1c.288T>A (p.Ser96=)
c.345T>A (p.Ser115=)
c.339T>A (p.Ser113=)
11g.128839957G>ACA383246217KCNJ1c.287C>T (p.Ser96Phe)
c.344C>T (p.Ser115Phe)
c.338C>T (p.Ser113Phe)
COSMIC
11g.128839957G>CCA383246219KCNJ1c.287C>G (p.Ser96Cys)
c.344C>G (p.Ser115Cys)
c.338C>G (p.Ser113Cys)
11g.128839957G>TCA383246221KCNJ1c.287C>A (p.Ser96Tyr)
c.344C>A (p.Ser115Tyr)
c.338C>A (p.Ser113Tyr)
11g.128839958A>CCA383246224KCNJ1c.286T>G (p.Ser96Ala)
c.343T>G (p.Ser115Ala)
c.337T>G (p.Ser113Ala)
11g.128839958A>GCA383246226KCNJ1c.286T>C (p.Ser96Pro)
c.343T>C (p.Ser115Pro)
c.337T>C (p.Ser113Pro)
11g.128839958A>TCA383246229KCNJ1c.286T>A (p.Ser96Thr)
c.343T>A (p.Ser115Thr)
c.337T>A (p.Ser113Thr)
11g.128839959A>CCA477703091KCNJ1c.285T>G (p.Pro95=)
c.342T>G (p.Pro114=)
c.336T>G (p.Pro112=)
11g.128839959A>GCA477703093KCNJ1c.285T>C (p.Pro95=)
c.342T>C (p.Pro114=)
c.336T>C (p.Pro112=)
11g.128839959A>TCA477703094KCNJ1c.285T>A (p.Pro95=)
c.342T>A (p.Pro114=)
c.336T>A (p.Pro112=)
11g.128839960G>ACA6357541KCNJ1c.284C>T (p.Pro95Leu)
c.341C>T (p.Pro114Leu)
c.335C>T (p.Pro112Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839960G>CCA383246232KCNJ1c.284C>G (p.Pro95Arg)
c.341C>G (p.Pro114Arg)
c.335C>G (p.Pro112Arg)
11g.128839960G=CA2008251422KCNJ1c.284C= (p.Pro95=)
c.341C= (p.Pro114=)
c.335C= (p.Pro112=)
11g.128839960G>TCA383246235KCNJ1c.284C>A (p.Pro95His)
c.341C>A (p.Pro114His)
c.335C>A (p.Pro112His)
11g.128839961G>ACA383246239KCNJ1c.283C>T (p.Pro95Ser)
c.340C>T (p.Pro114Ser)
c.334C>T (p.Pro112Ser)
11g.128839961G>CCA383246241KCNJ1c.283C>G (p.Pro95Ala)
c.340C>G (p.Pro114Ala)
c.334C>G (p.Pro112Ala)
11g.128839961G>TCA383246242KCNJ1c.283C>A (p.Pro95Thr)
c.340C>A (p.Pro114Thr)
c.334C>A (p.Pro112Thr)
11g.128839962A>CCA383246244KCNJ1c.282T>G (p.His94Gln)
c.339T>G (p.His113Gln)
c.333T>G (p.His111Gln)
11g.128839962A>GCA477703096KCNJ1c.282T>C (p.His94=)
c.339T>C (p.His113=)
c.333T>C (p.His111=)
11g.128839962A>TCA383246247KCNJ1c.282T>A (p.His94Gln)
c.339T>A (p.His113Gln)
c.333T>A (p.His111Gln)
11g.128839963T>ACA383246252KCNJ1c.281A>T (p.His94Leu)
c.338A>T (p.His113Leu)
c.332A>T (p.His111Leu)
11g.128839963T>CCA383246254KCNJ1c.281A>G (p.His94Arg)
c.338A>G (p.His113Arg)
c.332A>G (p.His111Arg)
11g.128839963T>GCA383246257KCNJ1c.281A>C (p.His94Pro)
c.338A>C (p.His113Pro)
c.332A>C (p.His111Pro)
11g.128839964G>ACA383246259KCNJ1c.280C>T (p.His94Tyr)
c.337C>T (p.His113Tyr)
c.331C>T (p.His111Tyr)
11g.128839964G>CCA383246264KCNJ1c.280C>G (p.His94Asp)
c.337C>G (p.His113Asp)
c.331C>G (p.His111Asp)
11g.128839964G=CA2008251427KCNJ1c.280C= (p.His94=)
c.337C= (p.His113=)
c.331C= (p.His111=)
11g.128839964G>TCA383246273KCNJ1c.280C>A (p.His94Asn)
c.337C>A (p.His113Asn)
c.331C>A (p.His111Asn)
dbSNP gnomAD v3 gnomAD v4
11g.128839965G>ACA477703098KCNJ1c.279C>T (p.Phe93=)
c.336C>T (p.Phe112=)
c.330C>T (p.Phe110=)
COSMIC
11g.128839965G>CCA383246276KCNJ1c.279C>G (p.Phe93Leu)
c.336C>G (p.Phe112Leu)
c.330C>G (p.Phe110Leu)
11g.128839965G>TCA383246282KCNJ1c.279C>A (p.Phe93Leu)
c.336C>A (p.Phe112Leu)
c.330C>A (p.Phe110Leu)
11g.128839966A>CCA383246284KCNJ1c.278T>G (p.Phe93Cys)
c.335T>G (p.Phe112Cys)
c.329T>G (p.Phe110Cys)
11g.128839966A>GCA383246294KCNJ1c.278T>C (p.Phe93Ser)
c.335T>C (p.Phe112Ser)
c.329T>C (p.Phe110Ser)
11g.128839966A>TCA383246286KCNJ1c.278T>A (p.Phe93Tyr)
c.335T>A (p.Phe112Tyr)
c.329T>A (p.Phe110Tyr)
11g.128839967A>CCA383246295KCNJ1c.277T>G (p.Phe93Val)
c.334T>G (p.Phe112Val)
c.328T>G (p.Phe110Val)
11g.128839967A>GCA383246296KCNJ1c.277T>C (p.Phe93Leu)
c.334T>C (p.Phe112Leu)
c.328T>C (p.Phe110Leu)
11g.128839967A>TCA383246298KCNJ1c.277T>A (p.Phe93Ile)
c.334T>A (p.Phe112Ile)
c.328T>A (p.Phe110Ile)
gnomAD v4
11g.128839968T>ACA383246302KCNJ1c.276A>T (p.Glu92Asp)
c.333A>T (p.Glu111Asp)
c.327A>T (p.Glu109Asp)
11g.128839968T>CCA477703103KCNJ1c.276A>G (p.Glu92=)
c.333A>G (p.Glu111=)
c.327A>G (p.Glu109=)
gnomAD v4
11g.128839968T>GCA383246303KCNJ1c.276A>C (p.Glu92Asp)
c.333A>C (p.Glu111Asp)
c.327A>C (p.Glu109Asp)
11g.128839969T>ACA383246313KCNJ1c.275A>T (p.Glu92Val)
c.332A>T (p.Glu111Val)
c.326A>T (p.Glu109Val)
11g.128839969T>CCA383246319KCNJ1c.275A>G (p.Glu92Gly)
c.332A>G (p.Glu111Gly)
c.326A>G (p.Glu109Gly)
11g.128839969T>GCA383246321KCNJ1c.275A>C (p.Glu92Ala)
c.332A>C (p.Glu111Ala)
c.326A>C (p.Glu109Ala)
11g.128839970C>ACA383246322KCNJ1c.274G>T (p.Glu92Ter)
c.331G>T (p.Glu111Ter)
c.325G>T (p.Glu109Ter)
11g.128839970C>GCA383246323KCNJ1c.274G>C (p.Glu92Gln)
c.331G>C (p.Glu111Gln)
c.325G>C (p.Glu109Gln)
gnomAD v4
11g.128839970C>TCA383246326KCNJ1c.274G>A (p.Glu92Lys)
c.331G>A (p.Glu111Lys)
c.325G>A (p.Glu109Lys)
COSMIC
11g.128839971C>ACA477703107KCNJ1c.273G>T (p.Pro91=)
c.330G>T (p.Pro110=)
c.324G>T (p.Pro108=)
11g.128839971C=CA2008251431KCNJ1c.273G= (p.Pro91=)
c.330G= (p.Pro110=)
c.324G= (p.Pro108=)
11g.128839971C>GCA477703105KCNJ1c.273G>C (p.Pro91=)
c.330G>C (p.Pro110=)
c.324G>C (p.Pro108=)
11g.128839971C>TCA6357542KCNJ1c.273G>A (p.Pro91=)
c.330G>A (p.Pro110=)
c.324G>A (p.Pro108=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839972G>ACA6357543KCNJ1c.272C>T (p.Pro91Leu)
c.329C>T (p.Pro110Leu)
c.323C>T (p.Pro108Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839972G>CCA383246345KCNJ1c.272C>G (p.Pro91Arg)
c.329C>G (p.Pro110Arg)
c.323C>G (p.Pro108Arg)
11g.128839972G=CA2008251442KCNJ1c.272C= (p.Pro91=)
c.329C= (p.Pro110=)
c.323C= (p.Pro108=)
11g.128839972G>TCA6357544KCNJ1c.272C>A (p.Pro91Gln)
c.329C>A (p.Pro110Gln)
c.323C>A (p.Pro108Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839973G>ACA383246350KCNJ1c.271C>T (p.Pro91Ser)
c.328C>T (p.Pro110Ser)
c.322C>T (p.Pro108Ser)
dbSNP gnomAD v4
11g.128839973G>CCA383246353KCNJ1c.271C>G (p.Pro91Ala)
c.328C>G (p.Pro110Ala)
c.322C>G (p.Pro108Ala)
11g.128839973G=CA2008251455KCNJ1c.271C= (p.Pro91=)
c.328C= (p.Pro110=)
c.322C= (p.Pro108=)
11g.128839973G>TCA383246355KCNJ1c.271C>A (p.Pro91Thr)
c.328C>A (p.Pro110Thr)
c.322C>A (p.Pro108Thr)
11g.128839974G>ACA6357545KCNJ1c.270C>T (p.Leu90=)
c.327C>T (p.Leu109=)
c.321C>T (p.Leu107=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839974G>CCA477703116KCNJ1c.270C>G (p.Leu90=)
c.327C>G (p.Leu109=)
c.321C>G (p.Leu107=)
11g.128839974G=CA2008251458KCNJ1c.270C= (p.Leu90=)
c.327C= (p.Leu109=)
c.321C= (p.Leu107=)
11g.128839974G>TCA477703115KCNJ1c.270C>A (p.Leu90=)
c.327C>A (p.Leu109=)
c.321C>A (p.Leu107=)
11g.128839975A>CCA383246363KCNJ1c.269T>G (p.Leu90Arg)
c.326T>G (p.Leu109Arg)
c.320T>G (p.Leu107Arg)
11g.128839975A>GCA383246366KCNJ1c.269T>C (p.Leu90Pro)
c.326T>C (p.Leu109Pro)
c.320T>C (p.Leu107Pro)
11g.128839975A>TCA383246368KCNJ1c.269T>A (p.Leu90His)
c.326T>A (p.Leu109His)
c.320T>A (p.Leu107His)
11g.128839976G>ACA383246371KCNJ1c.268C>T (p.Leu90Phe)
c.325C>T (p.Leu109Phe)
c.319C>T (p.Leu107Phe)
dbSNP gnomAD v2 gnomAD v4
11g.128839976G>CCA383246374KCNJ1c.268C>G (p.Leu90Val)
c.325C>G (p.Leu109Val)
c.319C>G (p.Leu107Val)
11g.128839976G=CA2008251461KCNJ1c.268C= (p.Leu90=)
c.325C= (p.Leu109=)
c.319C= (p.Leu107=)
11g.128839976G>TCA6357546KCNJ1c.268C>A (p.Leu90Ile)
c.325C>A (p.Leu109Ile)
c.319C>A (p.Leu107Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839977G>ACA230628913KCNJ1c.267C>T (p.Asp89=)
c.324C>T (p.Asp108=)
c.318C>T (p.Asp106=)
ClinVar dbSNP gnomAD v4
11g.128839977G>CCA6357547KCNJ1c.267C>G (p.Asp89Glu)
c.324C>G (p.Asp108Glu)
c.318C>G (p.Asp106Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839977G=CA2008251466KCNJ1c.267C= (p.Asp89=)
c.324C= (p.Asp108=)
c.318C= (p.Asp106=)
11g.128839977G>TCA230628922KCNJ1c.267C>A (p.Asp89Glu)
c.324C>A (p.Asp108Glu)
c.318C>A (p.Asp106Glu)
dbSNP
11g.128839978T>ACA383246392KCNJ1c.266A>T (p.Asp89Val)
c.323A>T (p.Asp108Val)
c.317A>T (p.Asp106Val)
11g.128839978T>CCA383246390KCNJ1c.266A>G (p.Asp89Gly)
c.323A>G (p.Asp108Gly)
c.317A>G (p.Asp106Gly)
dbSNP gnomAD v2 gnomAD v4
11g.128839978T>GCA383246388KCNJ1c.266A>C (p.Asp89Ala)
c.323A>C (p.Asp108Ala)
c.317A>C (p.Asp106Ala)
11g.128839978T=CA2008251471KCNJ1c.266A= (p.Asp89=)
c.323A= (p.Asp108=)
c.317A= (p.Asp106=)
11g.128839979C>ACA383246396KCNJ1c.265G>T (p.Asp89Tyr)
c.322G>T (p.Asp108Tyr)
c.316G>T (p.Asp106Tyr)
11g.128839979C=CA2008251478KCNJ1c.265G= (p.Asp89=)
c.322G= (p.Asp108=)
c.316G= (p.Asp106=)
11g.128839979C>GCA120162KCNJ1c.265G>C (p.Asp89His)
c.322G>C (p.Asp108His)
c.316G>C (p.Asp106His)
ClinVar dbSNP
11g.128839979C>TCA383246398KCNJ1c.265G>A (p.Asp89Asn)
c.322G>A (p.Asp108Asn)
c.316G>A (p.Asp106Asn)
COSMIC
11g.128839980T>ACA383246404KCNJ1c.264A>T (p.Lys88Asn)
c.321A>T (p.Lys107Asn)
c.315A>T (p.Lys105Asn)
11g.128839980T>CCA477703123KCNJ1c.264A>G (p.Lys88=)
c.321A>G (p.Lys107=)
c.315A>G (p.Lys105=)
11g.128839980T>GCA383246406KCNJ1c.264A>C (p.Lys88Asn)
c.321A>C (p.Lys107Asn)
c.315A>C (p.Lys105Asn)
gnomAD v4
11g.128839981T>ACA383246410KCNJ1c.263A>T (p.Lys88Ile)
c.320A>T (p.Lys107Ile)
c.314A>T (p.Lys105Ile)
11g.128839981T>CCA383246411KCNJ1c.263A>G (p.Lys88Arg)
c.320A>G (p.Lys107Arg)
c.314A>G (p.Lys105Arg)
11g.128839981T>GCA383246413KCNJ1c.263A>C (p.Lys88Thr)
c.320A>C (p.Lys107Thr)
c.314A>C (p.Lys105Thr)
11g.128839982T>ACA16043357KCNJ1c.262A>T (p.Lys88Ter)
c.319A>T (p.Lys107Ter)
c.313A>T (p.Lys105Ter)
ClinVar dbSNP
11g.128839982T>CCA216044KCNJ1c.262A>G (p.Lys88Glu)
c.319A>G (p.Lys107Glu)
c.313A>G (p.Lys105Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839982T>GCA383246421KCNJ1c.262A>C (p.Lys88Gln)
c.319A>C (p.Lys107Gln)
c.313A>C (p.Lys105Gln)
11g.128839982T=CA2008251487KCNJ1c.262A= (p.Lys88=)
c.319A= (p.Lys107=)
c.313A= (p.Lys105=)
11g.128839983G>ACA477703126KCNJ1c.261C>T (p.His87=)
c.318C>T (p.His106=)
c.312C>T (p.His104=)
dbSNP gnomAD v3 gnomAD v4
11g.128839983G>CCA383246424KCNJ1c.261C>G (p.His87Gln)
c.318C>G (p.His106Gln)
c.312C>G (p.His104Gln)
11g.128839983G=CA2008251494KCNJ1c.261C= (p.His87=)
c.318C= (p.His106=)
c.312C= (p.His104=)
11g.128839983G>TCA383246426KCNJ1c.261C>A (p.His87Gln)
c.318C>A (p.His106Gln)
c.312C>A (p.His104Gln)
11g.128839984T>ACA383246429KCNJ1c.260A>T (p.His87Leu)
c.317A>T (p.His106Leu)
c.311A>T (p.His104Leu)
11g.128839984T>CCA383246433KCNJ1c.260A>G (p.His87Arg)
c.317A>G (p.His106Arg)
c.311A>G (p.His104Arg)
11g.128839984T>GCA383246435KCNJ1c.260A>C (p.His87Pro)
c.317A>C (p.His106Pro)
c.311A>C (p.His104Pro)
11g.128839985G>ACA383246438KCNJ1c.259C>T (p.His87Tyr)
c.316C>T (p.His106Tyr)
c.310C>T (p.His104Tyr)
dbSNP
11g.128839985G>CCA383246437KCNJ1c.259C>G (p.His87Asp)
c.316C>G (p.His106Asp)
c.310C>G (p.His104Asp)
11g.128839985G=CA2008251498KCNJ1c.259C= (p.His87=)
c.316C= (p.His106=)
c.310C= (p.His104=)
11g.128839985G>TCA383246436KCNJ1c.259C>A (p.His87Asn)
c.316C>A (p.His106Asn)
c.310C>A (p.His104Asn)
11g.128839986A>CCA383246439KCNJ1c.258T>G (p.Ile86Met)
c.315T>G (p.Ile105Met)
c.309T>G (p.Ile103Met)
11g.128839986A>GCA477703130KCNJ1c.258T>C (p.Ile86=)
c.315T>C (p.Ile105=)
c.309T>C (p.Ile103=)
11g.128839986A>TCA477703131KCNJ1c.258T>A (p.Ile86=)
c.315T>A (p.Ile105=)
c.309T>A (p.Ile103=)
11g.128839987A>CCA383246442KCNJ1c.257T>G (p.Ile86Ser)
c.314T>G (p.Ile105Ser)
c.308T>G (p.Ile103Ser)
11g.128839987A>GCA383246444KCNJ1c.257T>C (p.Ile86Thr)
c.314T>C (p.Ile105Thr)
c.308T>C (p.Ile103Thr)
11g.128839987A>TCA383246446KCNJ1c.257T>A (p.Ile86Asn)
c.314T>A (p.Ile105Asn)
c.308T>A (p.Ile103Asn)
11g.128839988T>ACA383246450KCNJ1c.256A>T (p.Ile86Phe)
c.313A>T (p.Ile105Phe)
c.307A>T (p.Ile103Phe)
11g.128839988T>CCA230628959KCNJ1c.256A>G (p.Ile86Val)
c.313A>G (p.Ile105Val)
c.307A>G (p.Ile103Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839988T>GCA383246454KCNJ1c.256A>C (p.Ile86Leu)
c.313A>C (p.Ile105Leu)
c.307A>C (p.Ile103Leu)
11g.128839988T=CA2008251501KCNJ1c.256A= (p.Ile86=)
c.313A= (p.Ile105=)
c.307A= (p.Ile103=)
11g.128839989G>ACA477703136KCNJ1c.255C>T (p.Tyr85=)
c.312C>T (p.Tyr104=)
c.306C>T (p.Tyr102=)
11g.128839989G>CCA383246457KCNJ1c.255C>G (p.Tyr85Ter)
c.312C>G (p.Tyr104Ter)
c.306C>G (p.Tyr102Ter)
11g.128839989G>TCA383246459KCNJ1c.255C>A (p.Tyr85Ter)
c.312C>A (p.Tyr104Ter)
c.306C>A (p.Tyr102Ter)
11g.128839990T>ACA383246463KCNJ1c.254A>T (p.Tyr85Phe)
c.311A>T (p.Tyr104Phe)
c.305A>T (p.Tyr102Phe)
11g.128839990T>CCA383246465KCNJ1c.254A>G (p.Tyr85Cys)
c.311A>G (p.Tyr104Cys)
c.305A>G (p.Tyr102Cys)
11g.128839990T>GCA383246467KCNJ1c.254A>C (p.Tyr85Ser)
c.311A>C (p.Tyr104Ser)
c.305A>C (p.Tyr102Ser)
11g.128839991A>CCA383246475KCNJ1c.253T>G (p.Tyr85Asp)
c.310T>G (p.Tyr104Asp)
c.304T>G (p.Tyr102Asp)
gnomAD v4
11g.128839991A>GCA383246472KCNJ1c.253T>C (p.Tyr85His)
c.310T>C (p.Tyr104His)
c.304T>C (p.Tyr102His)
11g.128839991A>TCA383246470KCNJ1c.253T>A (p.Tyr85Asn)
c.310T>A (p.Tyr104Asn)
c.304T>A (p.Tyr102Asn)
11g.128839992C>ACA477703140KCNJ1c.252G>T (p.Ala84=)
c.309G>T (p.Ala103=)
c.303G>T (p.Ala101=)
11g.128839992C=CA2008251508KCNJ1c.252G= (p.Ala84=)
c.309G= (p.Ala103=)
c.303G= (p.Ala101=)
11g.128839992C>GCA477703141KCNJ1c.252G>C (p.Ala84=)
c.309G>C (p.Ala103=)
c.303G>C (p.Ala101=)
dbSNP
11g.128839992C>TCA6357548KCNJ1c.252G>A (p.Ala84=)
c.309G>A (p.Ala103=)
c.303G>A (p.Ala101=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839993G>ACA6357549KCNJ1c.251C>T (p.Ala84Val)
c.308C>T (p.Ala103Val)
c.302C>T (p.Ala101Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839993G>CCA383246479KCNJ1c.251C>G (p.Ala84Gly)
c.308C>G (p.Ala103Gly)
c.302C>G (p.Ala101Gly)
11g.128839993G=CA2008251515KCNJ1c.251C= (p.Ala84=)
c.308C= (p.Ala103=)
c.302C= (p.Ala101=)
11g.128839993G>TCA383246482KCNJ1c.251C>A (p.Ala84Glu)
c.308C>A (p.Ala103Glu)
c.302C>A (p.Ala101Glu)
dbSNP
11g.128839994C>ACA383246485KCNJ1c.250G>T (p.Ala84Ser)
c.307G>T (p.Ala103Ser)
c.301G>T (p.Ala101Ser)
11g.128839994C>GCA383246488KCNJ1c.250G>C (p.Ala84Pro)
c.307G>C (p.Ala103Pro)
c.301G>C (p.Ala101Pro)
11g.128839994C>TCA383246490KCNJ1c.250G>A (p.Ala84Thr)
c.307G>A (p.Ala103Thr)
c.301G>A (p.Ala101Thr)
11g.128839995T>ACA477703145KCNJ1c.249A>T (p.Val83=)
c.306A>T (p.Val102=)
c.300A>T (p.Val100=)
11g.128839995T>CCA477703146KCNJ1c.249A>G (p.Val83=)
c.306A>G (p.Val102=)
c.300A>G (p.Val100=)
11g.128839995T>GCA477703147KCNJ1c.249A>C (p.Val83=)
c.306A>C (p.Val102=)
c.300A>C (p.Val100=)
11g.128839996A=CA2008251522KCNJ1c.248T= (p.Val83=)
c.305T= (p.Val102=)
c.299T= (p.Val100=)
11g.128839996A>CCA6357550KCNJ1c.248T>G (p.Val83Gly)
c.305T>G (p.Val102Gly)
c.299T>G (p.Val100Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839996A>GCA383246495KCNJ1c.248T>C (p.Val83Ala)
c.305T>C (p.Val102Ala)
c.299T>C (p.Val100Ala)
gnomAD v4
11g.128839996A>TCA383246497KCNJ1c.248T>A (p.Val83Glu)
c.305T>A (p.Val102Glu)
c.299T>A (p.Val100Glu)
11g.128839997C>ACA383246499KCNJ1c.247G>T (p.Val83Leu)
c.304G>T (p.Val102Leu)
c.298G>T (p.Val100Leu)
11g.128839997C>GCA383246501KCNJ1c.247G>C (p.Val83Leu)
c.304G>C (p.Val102Leu)
c.298G>C (p.Val100Leu)
11g.128839997C>TCA383246503KCNJ1c.247G>A (p.Val83Ile)
c.304G>A (p.Val102Ile)
c.298G>A (p.Val100Ile)
11g.128839998T>ACA477703153KCNJ1c.246A>T (p.Ala82=)
c.303A>T (p.Ala101=)
c.297A>T (p.Ala99=)
11g.128839998T>CCA230628973KCNJ1c.246A>G (p.Ala82=)
c.303A>G (p.Ala101=)
c.297A>G (p.Ala99=)
dbSNP
11g.128839998T>GCA477703155KCNJ1c.246A>C (p.Ala82=)
c.303A>C (p.Ala101=)
c.297A>C (p.Ala99=)
11g.128839998T=CA2008251525KCNJ1c.246A= (p.Ala82=)
c.303A= (p.Ala101=)
c.297A= (p.Ala99=)
11g.128839999G>ACA383246507KCNJ1c.245C>T (p.Ala82Val)
c.302C>T (p.Ala101Val)
c.296C>T (p.Ala99Val)
gnomAD v4
11g.128839999G>CCA383246511KCNJ1c.245C>G (p.Ala82Gly)
c.302C>G (p.Ala101Gly)
c.296C>G (p.Ala99Gly)
11g.128839999G>TCA383246509KCNJ1c.245C>A (p.Ala82Glu)
c.302C>A (p.Ala101Glu)
c.296C>A (p.Ala99Glu)
11g.128840000C>ACA383246514KCNJ1c.244G>T (p.Ala82Ser)
c.301G>T (p.Ala101Ser)
c.295G>T (p.Ala99Ser)
gnomAD v4
11g.128840000C>GCA383246516KCNJ1c.244G>C (p.Ala82Pro)
c.301G>C (p.Ala101Pro)
c.295G>C (p.Ala99Pro)
11g.128840000C>TCA383246518KCNJ1c.244G>A (p.Ala82Thr)
c.301G>A (p.Ala101Thr)
c.295G>A (p.Ala99Thr)
gnomAD v4
11g.128840001A=CA2008251539KCNJ1c.243T= (p.Tyr81=)
c.300T= (p.Tyr100=)
c.294T= (p.Tyr98=)
11g.128840001A>CCA383246520KCNJ1c.243T>G (p.Tyr81Ter)
c.300T>G (p.Tyr100Ter)
c.294T>G (p.Tyr98Ter)
gnomAD v4
11g.128840001A>GCA477703158KCNJ1c.243T>C (p.Tyr81=)
c.300T>C (p.Tyr100=)
c.294T>C (p.Tyr98=)
dbSNP
11g.128840001A>TCA383246523KCNJ1c.243T>A (p.Tyr81Ter)
c.300T>A (p.Tyr100Ter)
c.294T>A (p.Tyr98Ter)
11g.128840002T>ACA383246526KCNJ1c.242A>T (p.Tyr81Phe)
c.299A>T (p.Tyr100Phe)
c.293A>T (p.Tyr98Phe)
11g.128840002T>CCA216041KCNJ1c.242A>G (p.Tyr81Cys)
c.299A>G (p.Tyr100Cys)
c.293A>G (p.Tyr98Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840002T>GCA383246530KCNJ1c.242A>C (p.Tyr81Ser)
c.299A>C (p.Tyr100Ser)
c.293A>C (p.Tyr98Ser)
11g.128840002T=CA2008251547KCNJ1c.242A= (p.Tyr81=)
c.299A= (p.Tyr100=)
c.293A= (p.Tyr98=)
11g.128840002_128840004delinsAAGCA2825002003KCNJ1c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe)
c.297_299delinsCTT (p.Trp99_Tyr100delinsCysPhe)
c.291_293delinsCTT (p.Trp97_Tyr98delinsCysPhe)
ClinVar
11g.128840003A>CCA383246535KCNJ1c.241T>G (p.Tyr81Asp)
c.298T>G (p.Tyr100Asp)
c.292T>G (p.Tyr98Asp)
11g.128840003A>GCA383246538KCNJ1c.241T>C (p.Tyr81His)
c.298T>C (p.Tyr100His)
c.292T>C (p.Tyr98His)
ClinVar
11g.128840003A>TCA383246540KCNJ1c.241T>A (p.Tyr81Asn)
c.298T>A (p.Tyr100Asn)
c.292T>A (p.Tyr98Asn)
11g.128840004C>ACA383246548KCNJ1c.240G>T (p.Trp80Cys)
c.297G>T (p.Trp99Cys)
c.291G>T (p.Trp97Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840004C=CA2008251552KCNJ1c.240G= (p.Trp80=)
c.297G= (p.Trp99=)
c.291G= (p.Trp97=)
11g.128840004C>GCA383246546KCNJ1c.240G>C (p.Trp80Cys)
c.297G>C (p.Trp99Cys)
c.291G>C (p.Trp97Cys)
11g.128840004C>TCA383246545KCNJ1c.240G>A (p.Trp80Ter)
c.297G>A (p.Trp99Ter)
c.291G>A (p.Trp97Ter)
ClinVar gnomAD v4
11g.128840005C>ACA383246552KCNJ1c.239G>T (p.Trp80Leu)
c.296G>T (p.Trp99Leu)
c.290G>T (p.Trp97Leu)
11g.128840005C=CA2008251557KCNJ1c.239G= (p.Trp80=)
c.296G= (p.Trp99=)
c.290G= (p.Trp97=)
11g.128840005C>GCA383246551KCNJ1c.239G>C (p.Trp80Ser)
c.296G>C (p.Trp99Ser)
c.290G>C (p.Trp97Ser)
11g.128840005C>TCA230628976KCNJ1c.239G>A (p.Trp80Ter)
c.296G>A (p.Trp99Ter)
c.290G>A (p.Trp97Ter)
dbSNP gnomAD v4
11g.128840006A=CA2008251560KCNJ1c.238T= (p.Trp80=)
c.295T= (p.Trp99=)
c.289T= (p.Trp97=)
11g.128840006A>CCA383246558KCNJ1c.238T>G (p.Trp80Gly)
c.295T>G (p.Trp99Gly)
c.289T>G (p.Trp97Gly)
11g.128840006A>GCA6357551KCNJ1c.238T>C (p.Trp80Arg)
c.295T>C (p.Trp99Arg)
c.289T>C (p.Trp97Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128840006A>TCA383246562KCNJ1c.238T>A (p.Trp80Arg)
c.295T>A (p.Trp99Arg)
c.289T>A (p.Trp97Arg)
11g.128840007C>ACA477703165KCNJ1c.237G>T (p.Leu79=)
c.294G>T (p.Leu98=)
c.288G>T (p.Leu96=)
gnomAD v4
11g.128840007C>GCA477703166KCNJ1c.237G>C (p.Leu79=)
c.294G>C (p.Leu98=)
c.288G>C (p.Leu96=)
11g.128840007C>TCA477703167KCNJ1c.237G>A (p.Leu79=)
c.294G>A (p.Leu98=)
c.288G>A (p.Leu96=)
11g.128840008A>CCA383246566KCNJ1c.236T>G (p.Leu79Arg)
c.293T>G (p.Leu98Arg)
c.287T>G (p.Leu96Arg)
11g.128840008A>GCA383246569KCNJ1c.236T>C (p.Leu79Pro)
c.293T>C (p.Leu98Pro)
c.287T>C (p.Leu96Pro)
11g.128840008A>TCA383246572KCNJ1c.236T>A (p.Leu79Gln)
c.293T>A (p.Leu98Gln)
c.287T>A (p.Leu96Gln)
11g.128840009G>ACA477703168KCNJ1c.235C>T (p.Leu79=)
c.292C>T (p.Leu98=)
c.286C>T (p.Leu96=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840009G>CCA383246578KCNJ1c.235C>G (p.Leu79Val)
c.292C>G (p.Leu98Val)
c.286C>G (p.Leu96Val)
11g.128840009G=CA2008251564KCNJ1c.235C= (p.Leu79=)
c.292C= (p.Leu98=)
c.286C= (p.Leu96=)
11g.128840009G>TCA383246575KCNJ1c.235C>A (p.Leu79Met)
c.292C>A (p.Leu98Met)
c.286C>A (p.Leu96Met)
11g.128840010G>ACA477703171KCNJ1c.234C>T (p.Leu78=)
c.291C>T (p.Leu97=)
c.285C>T (p.Leu95=)
COSMIC
11g.128840010G>CCA477703172KCNJ1c.234C>G (p.Leu78=)
c.291C>G (p.Leu97=)
c.285C>G (p.Leu95=)
11g.128840010G>TCA477703169KCNJ1c.234C>A (p.Leu78=)
c.291C>A (p.Leu97=)
c.285C>A (p.Leu95=)
11g.128840011A>CCA383246581KCNJ1c.233T>G (p.Leu78Arg)
c.290T>G (p.Leu97Arg)
c.284T>G (p.Leu95Arg)
11g.128840011A>GCA383246584KCNJ1c.233T>C (p.Leu78Pro)
c.290T>C (p.Leu97Pro)
c.284T>C (p.Leu95Pro)
11g.128840011A>TCA383246586KCNJ1c.233T>A (p.Leu78His)
c.290T>A (p.Leu97His)
c.284T>A (p.Leu95His)

Number of alleles fetched