Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387590A>CCA379773198KCNJ11c.241T>G (p.Phe81Val)
c.502T>G (p.Phe168Val)
n.660T>G
11g.17387590A>GCA379773200KCNJ11c.241T>C (p.Phe81Leu)
c.502T>C (p.Phe168Leu)
n.660T>C
11g.17387590A>TCA379773202KCNJ11c.241T>A (p.Phe81Ile)
c.502T>A (p.Phe168Ile)
n.660T>A
11g.17387591G>ACA473515515KCNJ11c.240C>T (p.Ile80=)
c.501C>T (p.Ile167=)
n.659C>T
11g.17387591G>CCA379773205KCNJ11c.240C>G (p.Ile80Met)
c.501C>G (p.Ile167Met)
n.659C>G
 COSMIC
11g.17387591G>TCA473515516KCNJ11c.240C>A (p.Ile80=)
c.501C>A (p.Ile167=)
n.659C>A
11g.17387592A>CCA379773213KCNJ11c.239T>G (p.Ile80Ser)
c.500T>G (p.Ile167Ser)
n.658T>G
11g.17387592A>GCA379773211KCNJ11c.239T>C (p.Ile80Thr)
c.500T>C (p.Ile167Thr)
n.658T>C
11g.17387592A>TCA379773210KCNJ11c.239T>A (p.Ile80Asn)
c.500T>A (p.Ile167Asn)
n.658T>A
 gnomAD v4
11g.17387593T>ACA379773218KCNJ11c.238A>T (p.Ile80Phe)
c.499A>T (p.Ile167Phe)
n.657A>T
11g.17387593T>CCA379773217KCNJ11c.238A>G (p.Ile80Val)
c.499A>G (p.Ile167Val)
n.657A>G
11g.17387593T>GCA119835KCNJ11c.238A>C (p.Ile80Leu)
c.499A>C (p.Ile167Leu)
n.657A>C
 ClinVar dbSNP
11g.17387593T=CA1955119322KCNJ11c.238A= (p.Ile80=)
c.499A= (p.Ile167=)
n.657A=
11g.17387594G>ACA473515517KCNJ11c.237C>T (p.Cys79=)
c.498C>T (p.Cys166=)
n.656C>T
11g.17387594G>CCA172328KCNJ11c.237C>G (p.Cys79Trp)
c.498C>G (p.Cys166Trp)
n.656C>G
 ClinVar dbSNP
11g.17387594G=CA1955119323KCNJ11c.237C= (p.Cys79=)
c.498C= (p.Cys166=)
n.656C=
11g.17387594G>TCA379773220KCNJ11c.237C>A (p.Cys79Ter)
c.498C>A (p.Cys166Ter)
n.656C>A
 ClinVar dbSNP
11g.17387595C>ACA119833KCNJ11c.236G>T (p.Cys79Phe)
c.497G>T (p.Cys166Phe)
n.655G>T
 ClinVar dbSNP
11g.17387595C=CA1955119324KCNJ11c.236G= (p.Cys79=)
c.497G= (p.Cys166=)
n.655G=
11g.17387595C>GCA379773227KCNJ11c.236G>C (p.Cys79Ser)
c.497G>C (p.Cys166Ser)
n.655G>C
11g.17387595C>TCA341720KCNJ11c.236G>A (p.Cys79Tyr)
c.497G>A (p.Cys166Tyr)
n.655G>A
 ClinVar dbSNP
11g.17387596A>CCA379773233KCNJ11c.235T>G (p.Cys79Gly)
c.496T>G (p.Cys166Gly)
n.654T>G
11g.17387596A>GCA379773235KCNJ11c.235T>C (p.Cys79Arg)
c.496T>C (p.Cys166Arg)
n.654T>C
11g.17387596A>TCA379773238KCNJ11c.235T>A (p.Cys79Ser)
c.496T>A (p.Cys166Ser)
n.654T>A
11g.17387597G>ACA473515518KCNJ11c.234C>T (p.Gly78=)
c.495C>T (p.Gly165=)
n.653C>T
 ClinVar dbSNP gnomAD v4
11g.17387597G>CCA473515519KCNJ11c.234C>G (p.Gly78=)
c.495C>G (p.Gly165=)
n.653C>G
11g.17387597G>TCA473515520KCNJ11c.234C>A (p.Gly78=)
c.495C>A (p.Gly165=)
n.653C>A
11g.17387598C>ACA379773241KCNJ11c.233G>T (p.Gly78Val)
c.494G>T (p.Gly165Val)
n.652G>T
11g.17387598C=CA1955119325KCNJ11c.233G= (p.Gly78=)
c.494G= (p.Gly165=)
n.652G=
11g.17387598C>GCA379773242KCNJ11c.233G>C (p.Gly78Ala)
c.494G>C (p.Gly165Ala)
n.652G>C
11g.17387598C>TCA379773244KCNJ11c.233G>A (p.Gly78Asp)
c.494G>A (p.Gly165Asp)
n.652G>A
 dbSNP gnomAD v3 gnomAD v4
11g.17387598_17387601dupCA2695201084KCNJ11c.230_233dup (p.Cys79TrpfsTer15)
c.491_494dup (p.Cys166TrpfsTer15)
n.649_652dup
 ClinVar
11g.17387599C>ACA379773247KCNJ11c.232G>T (p.Gly78Cys)
c.493G>T (p.Gly165Cys)
n.651G>T
11g.17387599C=CA1955119326KCNJ11c.232G= (p.Gly78=)
c.493G= (p.Gly165=)
n.651G=
11g.17387599C>GCA379773246KCNJ11c.232G>C (p.Gly78Arg)
c.493G>C (p.Gly165Arg)
n.651G>C
11g.17387599C>TCA5902286KCNJ11c.232G>A (p.Gly78Ser)
c.493G>A (p.Gly165Ser)
n.651G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387600A>CCA473515521KCNJ11c.231T>G (p.Leu77=)
c.492T>G (p.Leu164=)
n.650T>G
11g.17387600A>GCA473515522KCNJ11c.231T>C (p.Leu77=)
c.492T>C (p.Leu164=)
n.650T>C
11g.17387600A>TCA473515523KCNJ11c.231T>A (p.Leu77=)
c.492T>A (p.Leu164=)
n.650T>A
11g.17387601A>CCA379773252KCNJ11c.230T>G (p.Leu77Arg)
c.491T>G (p.Leu164Arg)
n.649T>G
11g.17387601A>GCA379773258KCNJ11c.230T>C (p.Leu77Pro)
c.491T>C (p.Leu164Pro)
n.649T>C
 ClinVar
11g.17387601A>TCA379773259KCNJ11c.230T>A (p.Leu77His)
c.491T>A (p.Leu164His)
n.649T>A
11g.17387602G>ACA379773262KCNJ11c.229C>T (p.Leu77Phe)
c.490C>T (p.Leu164Phe)
n.648C>T
 ClinVar dbSNP
11g.17387602G>CCA379773264KCNJ11c.229C>G (p.Leu77Val)
c.490C>G (p.Leu164Val)
n.648C>G
11g.17387602G=CA1955119327KCNJ11c.229C= (p.Leu77=)
c.490C= (p.Leu164=)
n.648C=
11g.17387602G>TCA379773266KCNJ11c.229C>A (p.Leu77Ile)
c.490C>A (p.Leu164Ile)
n.648C>A
 ClinVar dbSNP
11g.17387603C>ACA379773269KCNJ11c.228G>T (p.Met76Ile)
c.489G>T (p.Met163Ile)
n.647G>T
11g.17387603C>GCA379773278KCNJ11c.228G>C (p.Met76Ile)
c.489G>C (p.Met163Ile)
n.647G>C
11g.17387603C>TCA379773281KCNJ11c.228G>A (p.Met76Ile)
c.489G>A (p.Met163Ile)
n.647G>A
11g.17387604A>CCA379773284KCNJ11c.227T>G (p.Met76Arg)
c.488T>G (p.Met163Arg)
n.646T>G
11g.17387604A>GCA379773287KCNJ11c.227T>C (p.Met76Thr)
c.488T>C (p.Met163Thr)
n.646T>C
 ClinVar dbSNP
11g.17387604A>TCA379773289KCNJ11c.227T>A (p.Met76Lys)
c.488T>A (p.Met163Lys)
n.646T>A
11g.17387605T>ACA379773293KCNJ11c.226A>T (p.Met76Leu)
c.487A>T (p.Met163Leu)
n.645A>T
11g.17387605T>CCA379773295KCNJ11c.226A>G (p.Met76Val)
c.487A>G (p.Met163Val)
n.645A>G
11g.17387605T>GCA379773291KCNJ11c.226A>C (p.Met76Leu)
c.487A>C (p.Met163Leu)
n.645A>C
11g.17387606G>ACA473515524KCNJ11c.225C>T (p.Ile75=)
c.486C>T (p.Ile162=)
n.644C>T
11g.17387606G>CCA379773298KCNJ11c.225C>G (p.Ile75Met)
c.486C>G (p.Ile162Met)
n.644C>G
11g.17387606G>TCA473515525KCNJ11c.225C>A (p.Ile75=)
c.486C>A (p.Ile162=)
n.644C>A
11g.17387607A>CCA379773301KCNJ11c.224T>G (p.Ile75Ser)
c.485T>G (p.Ile162Ser)
n.643T>G
11g.17387607A>GCA379773303KCNJ11c.224T>C (p.Ile75Thr)
c.485T>C (p.Ile162Thr)
n.643T>C
11g.17387607A>TCA379773305KCNJ11c.224T>A (p.Ile75Asn)
c.485T>A (p.Ile162Asn)
n.643T>A
11g.17387608T>ACA379773310KCNJ11c.223A>T (p.Ile75Phe)
c.484A>T (p.Ile162Phe)
n.642A>T
11g.17387608T>CCA379773312KCNJ11c.223A>G (p.Ile75Val)
c.484A>G (p.Ile162Val)
n.642A>G
11g.17387608T>GCA379773315KCNJ11c.223A>C (p.Ile75Leu)
c.484A>C (p.Ile162Leu)
n.642A>C
11g.17387609G>ACA473515526KCNJ11c.222C>T (p.Ala74=)
c.483C>T (p.Ala161=)
n.641C>T
11g.17387609G>CCA473515527KCNJ11c.222C>G (p.Ala74=)
c.483C>G (p.Ala161=)
n.641C>G
11g.17387609G>TCA473515528KCNJ11c.222C>A (p.Ala74=)
c.483C>A (p.Ala161=)
n.641C>A
11g.17387610G>ACA379773326KCNJ11c.221C>T (p.Ala74Val)
c.482C>T (p.Ala161Val)
n.640C>T
 gnomAD v4
11g.17387610G>CCA379773330KCNJ11c.221C>G (p.Ala74Gly)
c.482C>G (p.Ala161Gly)
n.640C>G
11g.17387610G>TCA379773332KCNJ11c.221C>A (p.Ala74Asp)
c.482C>A (p.Ala161Asp)
n.640C>A
11g.17387611C>ACA379773337KCNJ11c.220G>T (p.Ala74Ser)
c.481G>T (p.Ala161Ser)
n.639G>T
11g.17387611C=CA1955119328KCNJ11c.220G= (p.Ala74=)
c.481G= (p.Ala161=)
n.639G=
11g.17387611C>GCA379773338KCNJ11c.220G>C (p.Ala74Pro)
c.481G>C (p.Ala161Pro)
n.639G>C
11g.17387611C>TCA379773339KCNJ11c.220G>A (p.Ala74Thr)
c.481G>A (p.Ala161Thr)
n.639G>A
 ClinVar dbSNP gnomAD v2
11g.17387612G>ACA5902287KCNJ11c.219C>T (p.Asn73=)
c.480C>T (p.Asn160=)
n.638C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387612G>CCA379773344KCNJ11c.219C>G (p.Asn73Lys)
c.480C>G (p.Asn160Lys)
n.638C>G
11g.17387612G=CA1955119329KCNJ11c.219C= (p.Asn73=)
c.480C= (p.Asn160=)
n.638C=
11g.17387612G>TCA379773340KCNJ11c.219C>A (p.Asn73Lys)
c.480C>A (p.Asn160Lys)
n.638C>A
11g.17387613T>ACA379773346KCNJ11c.218A>T (p.Asn73Ile)
c.479A>T (p.Asn160Ile)
n.637A>T
11g.17387613T>CCA379773347KCNJ11c.218A>G (p.Asn73Ser)
c.479A>G (p.Asn160Ser)
n.637A>G
11g.17387613T>GCA379773349KCNJ11c.218A>C (p.Asn73Thr)
c.479A>C (p.Asn160Thr)
n.637A>C
11g.17387614T>ACA379773351KCNJ11c.217A>T (p.Asn73Tyr)
c.478A>T (p.Asn160Tyr)
n.636A>T
11g.17387614T>CCA379773354KCNJ11c.217A>G (p.Asn73Asp)
c.478A>G (p.Asn160Asp)
n.636A>G
11g.17387614T>GCA379773356KCNJ11c.217A>C (p.Asn73His)
c.478A>C (p.Asn160His)
n.636A>C
11g.17387615G>ACA473515529KCNJ11c.216C>T (p.Ile72=)
c.477C>T (p.Ile159=)
n.635C>T
 ClinVar dbSNP
11g.17387615G>CCA379773359KCNJ11c.216C>G (p.Ile72Met)
c.477C>G (p.Ile159Met)
n.635C>G
11g.17387615G=CA1955119330KCNJ11c.216C= (p.Ile72=)
c.477C= (p.Ile159=)
n.635C=
11g.17387615G>TCA473515530KCNJ11c.216C>A (p.Ile72=)
c.477C>A (p.Ile159=)
n.635C>A
 dbSNP gnomAD v2
11g.17387616A>CCA379773364KCNJ11c.215T>G (p.Ile72Ser)
c.476T>G (p.Ile159Ser)
n.634T>G
11g.17387616A>GCA379773373KCNJ11c.215T>C (p.Ile72Thr)
c.476T>C (p.Ile159Thr)
n.634T>C
11g.17387616A>TCA379773377KCNJ11c.215T>A (p.Ile72Asn)
c.476T>A (p.Ile159Asn)
n.634T>A
11g.17387617T>ACA379773382KCNJ11c.214A>T (p.Ile72Phe)
c.475A>T (p.Ile159Phe)
n.633A>T
11g.17387617T>CCA218399889KCNJ11c.214A>G (p.Ile72Val)
c.475A>G (p.Ile159Val)
n.633A>G
 dbSNP gnomAD v4
11g.17387617T>GCA379773400KCNJ11c.214A>C (p.Ile72Leu)
c.475A>C (p.Ile159Leu)
n.633A>C
11g.17387617T=CA1955119331KCNJ11c.214A= (p.Ile72=)
c.475A= (p.Ile159=)
n.633A=
11g.17387618C>ACA379773412KCNJ11c.213G>T (p.Met71Ile)
c.474G>T (p.Met158Ile)
n.632G>T
11g.17387618C>GCA379773415KCNJ11c.213G>C (p.Met71Ile)
c.474G>C (p.Met158Ile)
n.632G>C
11g.17387618C>TCA379773409KCNJ11c.213G>A (p.Met71Ile)
c.474G>A (p.Met158Ile)
n.632G>A
 gnomAD v4
11g.17387619A=CA1955119332KCNJ11c.212T= (p.Met71=)
c.473T= (p.Met158=)
n.631T=
11g.17387619A>CCA379773426KCNJ11c.212T>G (p.Met71Arg)
c.473T>G (p.Met158Arg)
n.631T>G
11g.17387619A>GCA379773430KCNJ11c.212T>C (p.Met71Thr)
c.473T>C (p.Met158Thr)
n.631T>C
 dbSNP gnomAD v4
11g.17387619A>TCA379773433KCNJ11c.212T>A (p.Met71Lys)
c.473T>A (p.Met158Lys)
n.631T>A
11g.17387620T>ACA379773437KCNJ11c.211A>T (p.Met71Leu)
c.472A>T (p.Met158Leu)
n.630A>T
 ClinVar dbSNP
11g.17387620T>CCA379773438KCNJ11c.211A>G (p.Met71Val)
c.472A>G (p.Met158Val)
n.630A>G
 ClinVar dbSNP gnomAD v4
11g.17387620T>GCA379773439KCNJ11c.211A>C (p.Met71Leu)
c.472A>C (p.Met158Leu)
n.630A>C
11g.17387620T=CA1955119333KCNJ11c.211A= (p.Met71=)
c.472A= (p.Met158=)
n.630A=
11g.17387621G>ACA218399891KCNJ11c.210C>T (p.Leu70=)
c.471C>T (p.Leu157=)
n.629C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387621G>CCA473515532KCNJ11c.210C>G (p.Leu70=)
c.471C>G (p.Leu157=)
n.629C>G
11g.17387621G=CA1955119334KCNJ11c.210C= (p.Leu70=)
c.471C= (p.Leu157=)
n.629C=
11g.17387621G>TCA473515531KCNJ11c.210C>A (p.Leu70=)
c.471C>A (p.Leu157=)
n.629C>A
11g.17387622A>CCA379773445KCNJ11c.209T>G (p.Leu70Arg)
c.470T>G (p.Leu157Arg)
n.628T>G
11g.17387622A>GCA379773450KCNJ11c.209T>C (p.Leu70Pro)
c.470T>C (p.Leu157Pro)
n.628T>C
11g.17387622A>TCA379773455KCNJ11c.209T>A (p.Leu70His)
c.470T>A (p.Leu157His)
n.628T>A
11g.17387623G>ACA379773460KCNJ11c.208C>T (p.Leu70Phe)
c.469C>T (p.Leu157Phe)
n.627C>T
11g.17387623G>CCA379773463KCNJ11c.208C>G (p.Leu70Val)
c.469C>G (p.Leu157Val)
n.627C>G
11g.17387623G>TCA379773466KCNJ11c.208C>A (p.Leu70Ile)
c.469C>A (p.Leu157Ile)
n.627C>A
11g.17387624C>ACA473515533KCNJ11c.207G>T (p.Gly69=)
c.468G>T (p.Gly156=)
n.626G>T
11g.17387624C=CA1955119335KCNJ11c.207G= (p.Gly69=)
c.468G= (p.Gly156=)
n.626G=
11g.17387624C>GCA473515534KCNJ11c.207G>C (p.Gly69=)
c.468G>C (p.Gly156=)
n.626G>C
11g.17387624C>TCA218399893KCNJ11c.207G>A (p.Gly69=)
c.468G>A (p.Gly156=)
n.626G>A
 dbSNP
11g.17387625C>ACA379773495KCNJ11c.206G>T (p.Gly69Val)
c.467G>T (p.Gly156Val)
n.625G>T
11g.17387625C>GCA379773483KCNJ11c.206G>C (p.Gly69Ala)
c.467G>C (p.Gly156Ala)
n.625G>C
11g.17387625C>TCA379773478KCNJ11c.206G>A (p.Gly69Glu)
c.467G>A (p.Gly156Glu)
n.625G>A
11g.17387626C>ACA379773505KCNJ11c.205G>T (p.Gly69Trp)
c.466G>T (p.Gly156Trp)
n.624G>T
11g.17387626C=CA1955119336KCNJ11c.205G= (p.Gly69=)
c.466G= (p.Gly156=)
n.624G=
11g.17387626C>GCA379773513KCNJ11c.205G>C (p.Gly69Arg)
c.466G>C (p.Gly156Arg)
n.624G>C
11g.17387626C>TCA379773518KCNJ11c.205G>A (p.Gly69Arg)
c.466G>A (p.Gly156Arg)
n.624G>A
 ClinVar dbSNP gnomAD v2
11g.17387627C>ACA473515535KCNJ11c.204G>T (p.Val68=)
c.465G>T (p.Val155=)
n.623G>T
11g.17387627C>GCA473515536KCNJ11c.204G>C (p.Val68=)
c.465G>C (p.Val155=)
n.623G>C
11g.17387627C>TCA473515537KCNJ11c.204G>A (p.Val68=)
c.465G>A (p.Val155=)
n.623G>A
11g.17387628A>CCA379773519KCNJ11c.203T>G (p.Val68Gly)
c.464T>G (p.Val155Gly)
n.622T>G
11g.17387628A>GCA379773520KCNJ11c.203T>C (p.Val68Ala)
c.464T>C (p.Val155Ala)
n.622T>C
11g.17387628A>TCA379773521KCNJ11c.203T>A (p.Val68Glu)
c.464T>A (p.Val155Glu)
n.622T>A
11g.17387629C>ACA379773523KCNJ11c.202G>T (p.Val68Leu)
c.463G>T (p.Val155Leu)
n.621G>T
 gnomAD v4
11g.17387629C=CA1955119337KCNJ11c.202G= (p.Val68=)
c.463G= (p.Val155=)
n.621G=
11g.17387629C>GCA379773524KCNJ11c.202G>C (p.Val68Leu)
c.463G>C (p.Val155Leu)
n.621G>C
11g.17387629C>TCA172326KCNJ11c.202G>A (p.Val68Met)
c.463G>A (p.Val155Met)
n.621G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387630G>ACA218399904KCNJ11c.201C>T (p.Ile67=)
c.462C>T (p.Ile154=)
n.620C>T
 ClinVar dbSNP gnomAD v4
11g.17387630G>CCA379773531KCNJ11c.201C>G (p.Ile67Met)
c.462C>G (p.Ile154Met)
n.620C>G
11g.17387630G=CA1955119338KCNJ11c.201C= (p.Ile67=)
c.462C= (p.Ile154=)
n.620C=
11g.17387630G>TCA473515538KCNJ11c.201C>A (p.Ile67=)
c.462C>A (p.Ile154=)
n.620C>A
 dbSNP gnomAD v2 gnomAD v4
11g.17387631A>CCA379773535KCNJ11c.200T>G (p.Ile67Ser)
c.461T>G (p.Ile154Ser)
n.619T>G
11g.17387631A>GCA379773537KCNJ11c.200T>C (p.Ile67Thr)
c.461T>C (p.Ile154Thr)
n.619T>C
11g.17387631A>TCA379773539KCNJ11c.200T>A (p.Ile67Asn)
c.461T>A (p.Ile154Asn)
n.619T>A
11g.17387632T>ACA379773545KCNJ11c.199A>T (p.Ile67Phe)
c.460A>T (p.Ile154Phe)
n.618A>T
11g.17387632T>CCA379773549KCNJ11c.199A>G (p.Ile67Val)
c.460A>G (p.Ile154Val)
n.618A>G
 dbSNP gnomAD v4
11g.17387632T>GCA379773542KCNJ11c.199A>C (p.Ile67Leu)
c.460A>C (p.Ile154Leu)
n.618A>C
11g.17387633G>ACA473515539KCNJ11c.198C>T (p.Asn66=)
c.459C>T (p.Asn153=)
n.617C>T
 ClinVar dbSNP gnomAD v4
11g.17387633G>CCA379773551KCNJ11c.198C>G (p.Asn66Lys)
c.459C>G (p.Asn153Lys)
n.617C>G
11g.17387633G=CA1955119339KCNJ11c.198C= (p.Asn66=)
c.459C= (p.Asn153=)
n.617C=
11g.17387633G>TCA379773552KCNJ11c.198C>A (p.Asn66Lys)
c.459C>A (p.Asn153Lys)
n.617C>A
11g.17387634T>ACA379773555KCNJ11c.197A>T (p.Asn66Ile)
c.458A>T (p.Asn153Ile)
n.616A>T
11g.17387634T>CCA379773558KCNJ11c.197A>G (p.Asn66Ser)
c.458A>G (p.Asn153Ser)
n.616A>G
11g.17387634T>GCA379773559KCNJ11c.197A>C (p.Asn66Thr)
c.458A>C (p.Asn153Thr)
n.616A>C
11g.17387635T>ACA379773561KCNJ11c.196A>T (p.Asn66Tyr)
c.457A>T (p.Asn153Tyr)
n.615A>T
11g.17387635T>CCA379773563KCNJ11c.196A>G (p.Asn66Asp)
c.457A>G (p.Asn153Asp)
n.615A>G
11g.17387635T>GCA379773565KCNJ11c.196A>C (p.Asn66His)
c.457A>C (p.Asn153His)
n.615A>C
11g.17387636C>ACA379773569KCNJ11c.195G>T (p.Gln65His)
c.456G>T (p.Gln152His)
n.614G>T
 dbSNP gnomAD v2 gnomAD v4
11g.17387636C=CA1955119340KCNJ11c.195G= (p.Gln65=)
c.456G= (p.Gln152=)
n.614G=
11g.17387636C>GCA379773570KCNJ11c.195G>C (p.Gln65His)
c.456G>C (p.Gln152His)
n.614G>C
11g.17387636C>TCA473515540KCNJ11c.195G>A (p.Gln65=)
c.456G>A (p.Gln152=)
n.614G>A
11g.17387637T>ACA379773571KCNJ11c.194A>T (p.Gln65Leu)
c.455A>T (p.Gln152Leu)
n.613A>T
11g.17387637T>CCA379773574KCNJ11c.194A>G (p.Gln65Arg)
c.455A>G (p.Gln152Arg)
n.613A>G
 dbSNP gnomAD v3 gnomAD v4
11g.17387637T>GCA379773578KCNJ11c.194A>C (p.Gln65Pro)
c.455A>C (p.Gln152Pro)
n.613A>C
11g.17387637T=CA1955119341KCNJ11c.194A= (p.Gln65=)
c.455A= (p.Gln152=)
n.613A=
11g.17387638G>ACA379773587KCNJ11c.193C>T (p.Gln65Ter)
c.454C>T (p.Gln152Ter)
n.612C>T
11g.17387638G>CCA379773584KCNJ11c.193C>G (p.Gln65Glu)
c.454C>G (p.Gln152Glu)
n.612C>G
11g.17387638G>TCA379773585KCNJ11c.193C>A (p.Gln65Lys)
c.454C>A (p.Gln152Lys)
n.612C>A
11g.17387639C>ACA473515541KCNJ11c.192G>T (p.Val64=)
c.453G>T (p.Val151=)
n.611G>T
11g.17387639C>GCA473515542KCNJ11c.192G>C (p.Val64=)
c.453G>C (p.Val151=)
n.611G>C
11g.17387639C>TCA473515543KCNJ11c.192G>A (p.Val64=)
c.453G>A (p.Val151=)
n.611G>A
11g.17387640A>CCA379773595KCNJ11c.191T>G (p.Val64Gly)
c.452T>G (p.Val151Gly)
n.610T>G
11g.17387640A>GCA379773598KCNJ11c.191T>C (p.Val64Ala)
c.452T>C (p.Val151Ala)
n.610T>C
 gnomAD v4
11g.17387640A>TCA379773602KCNJ11c.191T>A (p.Val64Glu)
c.452T>A (p.Val151Glu)
n.610T>A
11g.17387641C>ACA379773603KCNJ11c.190G>T (p.Val64Leu)
c.451G>T (p.Val151Leu)
n.609G>T
11g.17387641C=CA1955119342KCNJ11c.190G= (p.Val64=)
c.451G= (p.Val151=)
n.609G=
11g.17387641C>GCA379773606KCNJ11c.190G>C (p.Val64Leu)
c.451G>C (p.Val151Leu)
n.609G>C
11g.17387641C>TCA5902288KCNJ11c.190G>A (p.Val64Met)
c.451G>A (p.Val151Met)
n.609G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387642G>ACA5902289KCNJ11c.189C>T (p.Ile63=)
c.450C>T (p.Ile150=)
n.608C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387642G>CCA379773624KCNJ11c.189C>G (p.Ile63Met)
c.450C>G (p.Ile150Met)
n.608C>G
11g.17387642G=CA1955119343KCNJ11c.189C= (p.Ile63=)
c.450C= (p.Ile150=)
n.608C=
11g.17387642G>TCA473515544KCNJ11c.189C>A (p.Ile63=)
c.450C>A (p.Ile150=)
n.608C>A
11g.17387643A=CA1955119344KCNJ11c.221T=
c.188T= (p.Ile63=)
c.449T= (p.Ile150=)
c.466T=
n.607T=
11g.17387643A>CCA379773628KCNJ11c.221T>G
c.188T>G (p.Ile63Ser)
c.449T>G (p.Ile150Ser)
c.466T>G
n.607T>G
11g.17387643A>GCA379773630KCNJ11c.221T>C
c.188T>C (p.Ile63Thr)
c.449T>C (p.Ile150Thr)
c.466T>C
n.607T>C
 dbSNP
11g.17387643A>TCA379773633KCNJ11c.221T>A
c.188T>A (p.Ile63Asn)
c.449T>A (p.Ile150Asn)
c.466T>A
n.607T>A
11g.17387644_17387652dupCA2561859217KCNJ11c.180_188dup (p.Leu62_Ile63insMetIleLeu)
c.441_449dup (p.Leu149_Ile150insMetIleLeu)
n.599_607dup
11g.17387644T>ACA379773639KCNJ11c.220A>T
c.187A>T (p.Ile63Phe)
c.448A>T (p.Ile150Phe)
c.465A>T
n.606A>T
11g.17387644T>CCA379773641KCNJ11c.220A>G
c.187A>G (p.Ile63Val)
c.448A>G (p.Ile150Val)
c.465A>G
n.606A>G
 gnomAD v4
11g.17387644T>GCA379773640KCNJ11c.220A>C
c.187A>C (p.Ile63Leu)
c.448A>C (p.Ile150Leu)
c.465A>C
n.606A>C
11g.17387645G>ACA5902290KCNJ11c.219C>T (p.Leu73=)
c.186C>T (p.Leu62=)
c.447C>T (p.Leu149=)
c.464C>T
n.605C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387645G>CCA473515545KCNJ11c.219C>G (p.Leu73=)
c.186C>G (p.Leu62=)
c.447C>G (p.Leu149=)
c.464C>G
n.605C>G
11g.17387645G=CA1955119345KCNJ11c.219C= (p.Leu73=)
c.186C= (p.Leu62=)
c.447C= (p.Leu149=)
c.464C=
n.605C=
11g.17387645G>TCA473515546KCNJ11c.219C>A (p.Leu73=)
c.186C>A (p.Leu62=)
c.447C>A (p.Leu149=)
c.464C>A
n.605C>A
11g.17387646A>CCA379773647KCNJ11c.218T>G (p.Leu73Arg)
c.185T>G (p.Leu62Arg)
c.446T>G (p.Leu149Arg)
c.463T>G
n.604T>G
11g.17387646A>GCA379773660KCNJ11c.218T>C (p.Leu73Pro)
c.185T>C (p.Leu62Pro)
c.446T>C (p.Leu149Pro)
c.463T>C
n.604T>C
 gnomAD v4
11g.17387646A>TCA379773665KCNJ11c.218T>A (p.Leu73His)
c.185T>A (p.Leu62His)
c.446T>A (p.Leu149His)
c.463T>A
n.604T>A
11g.17387647G>ACA379773668KCNJ11c.217C>T (p.Leu73Phe)
c.184C>T (p.Leu62Phe)
c.445C>T (p.Leu149Phe)
c.462C>T
n.603C>T
11g.17387647G>CCA379773671KCNJ11c.217C>G (p.Leu73Val)
c.184C>G (p.Leu62Val)
c.445C>G (p.Leu149Val)
c.462C>G
n.603C>G
11g.17387647G>TCA379773675KCNJ11c.217C>A (p.Leu73Ile)
c.184C>A (p.Leu62Ile)
c.445C>A (p.Leu149Ile)
c.462C>A
n.603C>A
11g.17387648G>ACA473515547KCNJ11c.216C>T (p.Ile72=)
c.183C>T (p.Ile61=)
c.444C>T (p.Ile148=)
c.461C>T
n.602C>T
 gnomAD v4
11g.17387648G>CCA379773680KCNJ11c.216C>G (p.Ile72Met)
c.183C>G (p.Ile61Met)
c.444C>G (p.Ile148Met)
c.461C>G
n.602C>G
11g.17387648G>TCA473515548KCNJ11c.216C>A (p.Ile72=)
c.183C>A (p.Ile61=)
c.444C>A (p.Ile148=)
c.461C>A
n.602C>A
11g.17387649A>CCA379773682KCNJ11c.215T>G (p.Ile72Ser)
c.182T>G (p.Ile61Ser)
c.443T>G (p.Ile148Ser)
c.460T>G
n.601T>G
11g.17387649A>GCA379773683KCNJ11c.215T>C (p.Ile72Thr)
c.182T>C (p.Ile61Thr)
c.443T>C (p.Ile148Thr)
c.460T>C
n.601T>C
11g.17387649A>TCA379773684KCNJ11c.215T>A (p.Ile72Asn)
c.182T>A (p.Ile61Asn)
c.443T>A (p.Ile148Asn)
c.460T>A
n.601T>A
11g.17387650T>ACA379773688KCNJ11c.214A>T (p.Ile72Phe)
c.181A>T (p.Ile61Phe)
c.442A>T (p.Ile148Phe)
c.459A>T
n.600A>T
11g.17387650T>CCA379773696KCNJ11c.214A>G (p.Ile72Val)
c.181A>G (p.Ile61Val)
c.442A>G (p.Ile148Val)
c.459A>G
n.600A>G
11g.17387650T>GCA379773701KCNJ11c.214A>C (p.Ile72Leu)
c.181A>C (p.Ile61Leu)
c.442A>C (p.Ile148Leu)
c.459A>C
n.600A>C
11g.17387651C>ACA473515549KCNJ11c.213G>T (p.Leu71=)
c.180G>T (p.Leu60=)
c.441G>T (p.Leu147=)
c.458G>T
n.599G>T
 dbSNP
11g.17387651C>GCA473515550KCNJ11c.213G>C (p.Leu71=)
c.180G>C (p.Leu60=)
c.441G>C (p.Leu147=)
c.458G>C
n.599G>C
11g.17387651C>TCA473515551KCNJ11c.213G>A (p.Leu71=)
c.180G>A (p.Leu60=)
c.441G>A (p.Leu147=)
c.458G>A
n.599G>A
 gnomAD v4
11g.17387652A=CA1955119346KCNJ11c.212T= (p.Leu71=)
c.179T= (p.Leu60=)
c.440T= (p.Leu147=)
c.457T=
n.598T=
11g.17387652A>CCA379773712KCNJ11c.212T>G (p.Leu71Arg)
c.179T>G (p.Leu60Arg)
c.440T>G (p.Leu147Arg)
c.457T>G
n.598T>G
11g.17387652A>GCA254515KCNJ11c.212T>C (p.Leu71Pro)
c.179T>C (p.Leu60Pro)
c.440T>C (p.Leu147Pro)
c.457T>C
n.598T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387652A>TCA379773709KCNJ11c.212T>A (p.Leu71Gln)
c.179T>A (p.Leu60Gln)
c.440T>A (p.Leu147Gln)
c.457T>A
n.598T>A
11g.17387653G>ACA473515552KCNJ11c.211C>T (p.Leu71=)
c.178C>T (p.Leu60=)
c.439C>T (p.Leu147=)
c.456C>T
n.597C>T
11g.17387653G>CCA379773716KCNJ11c.211C>G (p.Leu71Val)
c.178C>G (p.Leu60Val)
c.439C>G (p.Leu147Val)
c.456C>G
n.597C>G
11g.17387653G>TCA379773717KCNJ11c.211C>A (p.Leu71Met)
c.178C>A (p.Leu60Met)
c.439C>A (p.Leu147Met)
c.456C>A
n.597C>A
11g.17387654delCA2612639023KCNJ11c.211del (p.Leu71Ter)
c.178del (p.Leu60Ter)
c.439del (p.Leu147Ter)
c.456del
n.597del
 gnomAD v4
11g.17387654G>ACA473515553KCNJ11c.210C>T (p.Ile70=)
c.177C>T (p.Ile59=)
c.438C>T (p.Ile146=)
c.455C>T
n.596C>T
11g.17387654G>CCA379773718KCNJ11c.210C>G (p.Ile70Met)
c.177C>G (p.Ile59Met)
c.438C>G (p.Ile146Met)
c.455C>G
n.596C>G
11g.17387654G>TCA473515554KCNJ11c.210C>A (p.Ile70=)
c.177C>A (p.Ile59=)
c.438C>A (p.Ile146=)
c.455C>A
n.596C>A
11g.17387655A=CA1955119347KCNJ11c.209T= (p.Ile70=)
c.176T= (p.Ile59=)
c.437T= (p.Ile146=)
c.454T=
n.595T=
11g.17387655A>CCA379773721KCNJ11c.209T>G (p.Ile70Ser)
c.176T>G (p.Ile59Ser)
c.437T>G (p.Ile146Ser)
c.454T>G
n.595T>G
11g.17387655A>GCA379773724KCNJ11c.209T>C (p.Ile70Thr)
c.176T>C (p.Ile59Thr)
c.437T>C (p.Ile146Thr)
c.454T>C
n.595T>C
11g.17387655A>TCA379773731KCNJ11c.209T>A (p.Ile70Asn)
c.176T>A (p.Ile59Asn)
c.437T>A (p.Ile146Asn)
c.454T>A
n.595T>A
 dbSNP gnomAD v2
11g.17387656T>ACA379773743KCNJ11c.208A>T (p.Ile70Phe)
c.175A>T (p.Ile59Phe)
c.436A>T (p.Ile146Phe)
c.453A>T
n.594A>T
11g.17387656T>CCA379773748KCNJ11c.208A>G (p.Ile70Val)
c.175A>G (p.Ile59Val)
c.436A>G (p.Ile146Val)
c.453A>G
n.594A>G
11g.17387656T>GCA379773752KCNJ11c.208A>C (p.Ile70Leu)
c.175A>C (p.Ile59Leu)
c.436A>C (p.Ile146Leu)
c.453A>C
n.594A>C
11g.17387657G>ACA473515556KCNJ11c.207C>T (p.Ala69=)
c.174C>T (p.Ala58=)
c.435C>T (p.Ala145=)
c.452C>T
n.593C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17387657G>CCA473515557KCNJ11c.207C>G (p.Ala69=)
c.174C>G (p.Ala58=)
c.435C>G (p.Ala145=)
c.452C>G
n.593C>G
11g.17387657G=CA1955119348KCNJ11c.207C= (p.Ala69=)
c.174C= (p.Ala58=)
c.435C= (p.Ala145=)
c.452C=
n.593C=
11g.17387657G>TCA473515555KCNJ11c.207C>A (p.Ala69=)
c.174C>A (p.Ala58=)
c.435C>A (p.Ala145=)
c.452C>A
n.593C>A
 dbSNP gnomAD v4
11g.17387658G>ACA379773758KCNJ11c.206C>T (p.Ala69Val)
c.173C>T (p.Ala58Val)
c.434C>T (p.Ala145Val)
c.451C>T
n.592C>T
11g.17387658G>CCA379773762KCNJ11c.206C>G (p.Ala69Gly)
c.173C>G (p.Ala58Gly)
c.434C>G (p.Ala145Gly)
c.451C>G
n.592C>G
11g.17387658G>TCA379773766KCNJ11c.206C>A (p.Ala69Asp)
c.173C>A (p.Ala58Asp)
c.434C>A (p.Ala145Asp)
c.451C>A
n.592C>A
11g.17387659C>ACA379773768KCNJ11c.205G>T (p.Ala69Ser)
c.172G>T (p.Ala58Ser)
c.433G>T (p.Ala145Ser)
c.450G>T
n.591G>T
 ClinVar
11g.17387659C=CA1955119349KCNJ11c.205G= (p.Ala69=)
c.172G= (p.Ala58=)
c.433G= (p.Ala145=)
c.450G=
n.591G=
11g.17387659C>GCA379773770KCNJ11c.205G>C (p.Ala69Pro)
c.172G>C (p.Ala58Pro)
c.433G>C (p.Ala145Pro)
c.450G>C
n.591G>C
11g.17387659C>TCA379773769KCNJ11c.205G>A (p.Ala69Thr)
c.172G>A (p.Ala58Thr)
c.433G>A (p.Ala145Thr)
c.450G>A
n.591G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.17387660C>ACA473515560KCNJ11c.204G>T (p.Leu68=)
c.171G>T (p.Leu57=)
c.432G>T (p.Leu144=)
c.449G>T
n.590G>T
11g.17387660C>GCA473515558KCNJ11c.204G>C (p.Leu68=)
c.171G>C (p.Leu57=)
c.432G>C (p.Leu144=)
c.449G>C
n.590G>C
11g.17387660C>TCA473515559KCNJ11c.204G>A (p.Leu68=)
c.171G>A (p.Leu57=)
c.432G>A (p.Leu144=)
c.449G>A
n.590G>A
11g.17387661A>CCA379773777KCNJ11c.203T>G (p.Leu68Arg)
c.170T>G (p.Leu57Arg)
c.431T>G (p.Leu144Arg)
c.448T>G
n.589T>G
11g.17387661A>GCA379773780KCNJ11c.203T>C (p.Leu68Pro)
c.170T>C (p.Leu57Pro)
c.431T>C (p.Leu144Pro)
c.448T>C
n.589T>C
11g.17387661A>TCA379773784KCNJ11c.203T>A (p.Leu68Gln)
c.170T>A (p.Leu57Gln)
c.431T>A (p.Leu144Gln)
c.448T>A
n.589T>A
11g.17387662G>ACA473515561KCNJ11c.202C>T (p.Leu68=)
c.169C>T (p.Leu57=)
c.430C>T (p.Leu144=)
c.447C>T
n.588C>T
11g.17387662G>CCA379773788KCNJ11c.202C>G (p.Leu68Val)
c.169C>G (p.Leu57Val)
c.430C>G (p.Leu144Val)
c.447C>G
n.588C>G
 ClinVar dbSNP gnomAD v4
11g.17387662G=CA1955119350KCNJ11c.202C= (p.Leu68=)
c.169C= (p.Leu57=)
c.430C= (p.Leu144=)
c.447C=
n.588C=
11g.17387662G>TCA379773790KCNJ11c.202C>A (p.Leu68Met)
c.169C>A (p.Leu57Met)
c.430C>A (p.Leu144Met)
c.447C>A
n.588C>A
11g.17387663T>ACA473515562KCNJ11c.201A>T (p.Pro67=)
c.168A>T (p.Pro56=)
c.429A>T (p.Pro143=)
c.446A>T
n.587A>T
11g.17387663T>CCA473515564KCNJ11c.201A>G (p.Pro67=)
c.168A>G (p.Pro56=)
c.429A>G (p.Pro143=)
c.446A>G
n.587A>G
 dbSNP
11g.17387663T>GCA473515563KCNJ11c.201A>C (p.Pro67=)
c.168A>C (p.Pro56=)
c.429A>C (p.Pro143=)
c.446A>C
n.587A>C
11g.17387664G>ACA379773793KCNJ11c.200C>T (p.Pro67Leu)
c.167C>T (p.Pro56Leu)
c.428C>T (p.Pro143Leu)
c.445C>T
n.586C>T
 gnomAD v4
11g.17387664G>CCA379773796KCNJ11c.200C>G (p.Pro67Arg)
c.167C>G (p.Pro56Arg)
c.428C>G (p.Pro143Arg)
c.445C>G
n.586C>G
11g.17387664G>TCA379773802KCNJ11c.200C>A (p.Pro67Gln)
c.167C>A (p.Pro56Gln)
c.428C>A (p.Pro143Gln)
c.445C>A
n.586C>A
11g.17387665G>ACA379773807KCNJ11c.199C>T (p.Pro67Ser)
c.166C>T (p.Pro56Ser)
c.427C>T (p.Pro143Ser)
c.444C>T
n.585C>T
11g.17387665G>CCA379773810KCNJ11c.199C>G (p.Pro67Ala)
c.166C>G (p.Pro56Ala)
c.427C>G (p.Pro143Ala)
c.444C>G
n.585C>G
11g.17387665G>TCA379773816KCNJ11c.199C>A (p.Pro67Thr)
c.166C>A (p.Pro56Thr)
c.427C>A (p.Pro143Thr)
c.444C>A
n.585C>A
11g.17387666G>ACA473515565KCNJ11c.198C>T (p.Cys66=)
c.165C>T (p.Cys55=)
c.426C>T (p.Cys142=)
c.443C>T
n.584C>T
 dbSNP gnomAD v2 gnomAD v4
11g.17387666G>CCA379773820KCNJ11c.198C>G (p.Cys66Trp)
c.165C>G (p.Cys55Trp)
c.426C>G (p.Cys142Trp)
c.443C>G
n.584C>G
11g.17387666G=CA1955119351KCNJ11c.198C= (p.Cys66=)
c.165C= (p.Cys55=)
c.426C= (p.Cys142=)
c.443C=
n.584C=
11g.17387666G>TCA379773825KCNJ11c.198C>A (p.Cys66Ter)
c.165C>A (p.Cys55Ter)
c.426C>A (p.Cys142Ter)
c.443C>A
n.584C>A
11g.17387667C>ACA379773830KCNJ11c.197G>T (p.Cys66Phe)
c.164G>T (p.Cys55Phe)
c.425G>T (p.Cys142Phe)
c.442G>T
n.583G>T
11g.17387667C>GCA379773837KCNJ11c.197G>C (p.Cys66Ser)
c.164G>C (p.Cys55Ser)
c.425G>C (p.Cys142Ser)
c.442G>C
n.583G>C
11g.17387667C>TCA379773833KCNJ11c.197G>A (p.Cys66Tyr)
c.164G>A (p.Cys55Tyr)
c.425G>A (p.Cys142Tyr)
c.442G>A
n.583G>A
11g.17387668A>CCA379773842KCNJ11c.196T>G (p.Cys66Gly)
c.163T>G (p.Cys55Gly)
c.424T>G (p.Cys142Gly)
c.441T>G
n.582T>G
 gnomAD v4
11g.17387668A>GCA379773846KCNJ11c.196T>C (p.Cys66Arg)
c.163T>C (p.Cys55Arg)
c.424T>C (p.Cys142Arg)
c.441T>C
n.582T>C
11g.17387668A>TCA379773850KCNJ11c.196T>A (p.Cys66Ser)
c.163T>A (p.Cys55Ser)
c.424T>A (p.Cys142Ser)
c.441T>A
n.582T>A
11g.17387669C>ACA379773855KCNJ11c.195G>T (p.Glu65Asp)
c.162G>T (p.Glu54Asp)
c.423G>T (p.Glu141Asp)
c.440G>T
n.581G>T
11g.17387669C>GCA379773857KCNJ11c.195G>C (p.Glu65Asp)
c.162G>C (p.Glu54Asp)
c.423G>C (p.Glu141Asp)
c.440G>C
n.581G>C
11g.17387669C>TCA473515566KCNJ11c.195G>A (p.Glu65=)
c.162G>A (p.Glu54=)
c.423G>A (p.Glu141=)
c.440G>A
n.581G>A
11g.17387670T>ACA379773870KCNJ11c.194A>T (p.Glu65Val)
c.161A>T (p.Glu54Val)
c.422A>T (p.Glu141Val)
c.439A>T
n.580A>T
11g.17387670T>CCA379773876KCNJ11c.194A>G (p.Glu65Gly)
c.161A>G (p.Glu54Gly)
c.422A>G (p.Glu141Gly)
c.439A>G
n.580A>G
11g.17387670T>GCA379773883KCNJ11c.194A>C (p.Glu65Ala)
c.161A>C (p.Glu54Ala)
c.422A>C (p.Glu141Ala)
c.439A>C
n.580A>C
11g.17387671C>ACA379773886KCNJ11c.193G>T (p.Glu65Ter)
c.160G>T (p.Glu54Ter)
c.421G>T (p.Glu141Ter)
c.438G>T
n.579G>T
11g.17387671C>GCA379773887KCNJ11c.193G>C (p.Glu65Gln)
c.160G>C (p.Glu54Gln)
c.421G>C (p.Glu141Gln)
c.438G>C
n.579G>C
11g.17387671C>TCA379773888KCNJ11c.193G>A (p.Glu65Lys)
c.160G>A (p.Glu54Lys)
c.421G>A (p.Glu141Lys)
c.438G>A
n.579G>A
 gnomAD v4
11g.17387672C>ACA379773889KCNJ11c.192G>T (p.Glu64Asp)
c.159G>T (p.Glu53Asp)
c.420G>T (p.Glu140Asp)
c.437G>T
n.578G>T
11g.17387672C>GCA379773892KCNJ11c.192G>C (p.Glu64Asp)
c.159G>C (p.Glu53Asp)
c.420G>C (p.Glu140Asp)
c.437G>C
n.578G>C
11g.17387672C>TCA473515567KCNJ11c.192G>A (p.Glu64=)
c.159G>A (p.Glu53=)
c.420G>A (p.Glu140=)
c.437G>A
n.578G>A
 gnomAD v4
11g.17387673T>ACA379773896KCNJ11c.191A>T (p.Glu64Val)
c.158A>T (p.Glu53Val)
c.419A>T (p.Glu140Val)
c.436A>T
n.577A>T
11g.17387673T>CCA379773911KCNJ11c.191A>G (p.Glu64Gly)
c.158A>G (p.Glu53Gly)
c.419A>G (p.Glu140Gly)
c.436A>G
n.577A>G
11g.17387673T>GCA379773898KCNJ11c.191A>C (p.Glu64Ala)
c.158A>C (p.Glu53Ala)
c.419A>C (p.Glu140Ala)
c.436A>C
n.577A>C
11g.17387674C>ACA379773916KCNJ11c.190G>T (p.Glu64Ter)
c.157G>T (p.Glu53Ter)
c.418G>T (p.Glu140Ter)
c.435G>T
n.576G>T
11g.17387674C>GCA379773922KCNJ11c.190G>C (p.Glu64Gln)
c.157G>C (p.Glu53Gln)
c.418G>C (p.Glu140Gln)
c.435G>C
n.576G>C
11g.17387674C>TCA379773918KCNJ11c.190G>A (p.Glu64Lys)
c.157G>A (p.Glu53Lys)
c.418G>A (p.Glu140Lys)
c.435G>A
n.576G>A
 gnomAD v4 COSMIC
11g.17387675A>CCA473515568KCNJ11c.189T>G (p.Thr63=)
c.156T>G (p.Thr52=)
c.417T>G (p.Thr139=)
c.434T>G
n.575T>G
 gnomAD v4
11g.17387675A>GCA473515569KCNJ11c.189T>C (p.Thr63=)
c.156T>C (p.Thr52=)
c.417T>C (p.Thr139=)
c.434T>C
n.575T>C
 gnomAD v4
11g.17387675A>TCA473515570KCNJ11c.189T>A (p.Thr63=)
c.156T>A (p.Thr52=)
c.417T>A (p.Thr139=)
c.434T>A
n.575T>A
 COSMIC
11g.17387676G>ACA379773936KCNJ11c.188C>T (p.Thr63Ile)
c.155C>T (p.Thr52Ile)
c.416C>T (p.Thr139Ile)
c.433C>T
n.574C>T
11g.17387676G>CCA379773938KCNJ11c.188C>G (p.Thr63Ser)
c.155C>G (p.Thr52Ser)
c.416C>G (p.Thr139Ser)
c.433C>G
n.574C>G
11g.17387676G>TCA379773937KCNJ11c.188C>A (p.Thr63Asn)
c.155C>A (p.Thr52Asn)
c.416C>A (p.Thr139Asn)
c.433C>A
n.574C>A
11g.17387677T>ACA379773941KCNJ11c.187A>T (p.Thr63Ser)
c.154A>T (p.Thr52Ser)
c.415A>T (p.Thr139Ser)
c.432A>T
n.573A>T
11g.17387677T>CCA379773944KCNJ11c.187A>G (p.Thr63Ala)
c.154A>G (p.Thr52Ala)
c.415A>G (p.Thr139Ala)
c.432A>G
n.573A>G
11g.17387677T>GCA379773942KCNJ11c.187A>C (p.Thr63Pro)
c.154A>C (p.Thr52Pro)
c.415A>C (p.Thr139Pro)
c.432A>C
n.573A>C
11g.17387678C>ACA473515571KCNJ11c.186G>T (p.Val62=)
c.153G>T (p.Val51=)
c.414G>T (p.Val138=)
c.431G>T
n.572G>T
11g.17387678C>GCA473515573KCNJ11c.186G>C (p.Val62=)
c.153G>C (p.Val51=)
c.414G>C (p.Val138=)
c.431G>C
n.572G>C
11g.17387678C>TCA473515572KCNJ11c.186G>A (p.Val62=)
c.153G>A (p.Val51=)
c.414G>A (p.Val138=)
c.431G>A
n.572G>A
 gnomAD v4
11g.17387679A>CCA379773946KCNJ11c.185T>G (p.Val62Gly)
c.152T>G (p.Val51Gly)
c.413T>G (p.Val138Gly)
c.430T>G
n.571T>G
 gnomAD v4
11g.17387679A>GCA379773948KCNJ11c.185T>C (p.Val62Ala)
c.152T>C (p.Val51Ala)
c.413T>C (p.Val138Ala)
c.430T>C
n.571T>C
11g.17387679A>TCA379773950KCNJ11c.185T>A (p.Val62Glu)
c.152T>A (p.Val51Glu)
c.413T>A (p.Val138Glu)
c.430T>A
n.571T>A
11g.17387680C>ACA379773951KCNJ11c.184G>T (p.Val62Leu)
c.151G>T (p.Val51Leu)
c.412G>T (p.Val138Leu)
c.429G>T
n.570G>T
 ClinVar dbSNP
11g.17387680C=CA1955119352KCNJ11c.184G= (p.Val62=)
c.151G= (p.Val51=)
c.412G= (p.Val138=)
c.429G=
n.570G=
11g.17387680C>GCA379773952KCNJ11c.184G>C (p.Val62Leu)
c.151G>C (p.Val51Leu)
c.412G>C (p.Val138Leu)
c.429G>C
n.570G>C
11g.17387680C>TCA379773953KCNJ11c.184G>A (p.Val62Met)
c.151G>A (p.Val51Met)
c.412G>A (p.Val138Met)
c.429G>A
n.570G>A
 dbSNP
11g.17387681C>ACA379773954KCNJ11c.183G>T (p.Met61Ile)
c.150G>T (p.Met50Ile)
c.411G>T (p.Met137Ile)
c.428G>T
n.569G>T
11g.17387681C=CA1955119353KCNJ11c.183G= (p.Met61=)
c.150G= (p.Met50=)
c.411G= (p.Met137=)
c.428G=
n.569G=
11g.17387681C>GCA379773956KCNJ11c.183G>C (p.Met61Ile)
c.150G>C (p.Met50Ile)
c.411G>C (p.Met137Ile)
c.428G>C
n.569G>C
 dbSNP
11g.17387681C>TCA5902291KCNJ11c.183G>A (p.Met61Ile)
c.150G>A (p.Met50Ile)
c.411G>A (p.Met137Ile)
c.428G>A
n.569G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387682A>CCA379773961KCNJ11c.182T>G (p.Met61Arg)
c.149T>G (p.Met50Arg)
c.410T>G (p.Met137Arg)
c.427T>G
n.568T>G
11g.17387682A>GCA379773960KCNJ11c.182T>C (p.Met61Thr)
c.149T>C (p.Met50Thr)
c.410T>C (p.Met137Thr)
c.427T>C
n.568T>C
11g.17387682A>TCA379773959KCNJ11c.182T>A (p.Met61Lys)
c.149T>A (p.Met50Lys)
c.410T>A (p.Met137Lys)
c.427T>A
n.568T>A
11g.17387683T>ACA379773964KCNJ11c.181A>T (p.Met61Leu)
c.148A>T (p.Met50Leu)
c.409A>T (p.Met137Leu)
c.426A>T
n.567A>T
 COSMIC
11g.17387683T>CCA379773965KCNJ11c.181A>G (p.Met61Val)
c.148A>G (p.Met50Val)
c.409A>G (p.Met137Val)
c.426A>G
n.567A>G
11g.17387683T>GCA379773967KCNJ11c.181A>C (p.Met61Leu)
c.148A>C (p.Met50Leu)
c.409A>C (p.Met137Leu)
c.426A>C
n.567A>C
11g.17387684G>ACA473515574KCNJ11c.180C>T (p.Arg60=)
c.147C>T (p.Arg49=)
c.408C>T (p.Arg136=)
c.425C>T
n.566C>T
 ClinVar gnomAD v4
11g.17387684G>CCA473515575KCNJ11c.180C>G (p.Arg60=)
c.147C>G (p.Arg49=)
c.408C>G (p.Arg136=)
c.425C>G
n.566C>G
11g.17387684G>TCA473515576KCNJ11c.180C>A (p.Arg60=)
c.147C>A (p.Arg49=)
c.408C>A (p.Arg136=)
c.425C>A
n.566C>A
11g.17387685C>ACA379773968KCNJ11c.179G>T (p.Arg60Leu)
c.146G>T (p.Arg49Leu)
c.407G>T (p.Arg136Leu)
c.424G>T
n.565G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17387685C=CA1955119354KCNJ11c.179G= (p.Arg60=)
c.146G= (p.Arg49=)
c.407G= (p.Arg136=)
c.424G=
n.565G=
11g.17387685C>GCA379773970KCNJ11c.179G>C (p.Arg60Pro)
c.146G>C (p.Arg49Pro)
c.407G>C (p.Arg136Pro)
c.424G>C
n.565G>C
11g.17387685C>TCA379773972KCNJ11c.179G>A (p.Arg60His)
c.146G>A (p.Arg49His)
c.407G>A (p.Arg136His)
c.424G>A
n.565G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387686G>ACA5902293KCNJ11c.178C>T (p.Arg60Cys)
c.145C>T (p.Arg49Cys)
c.406C>T (p.Arg136Cys)
c.423C>T
n.564C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387686G>CCA379773976KCNJ11c.178C>G (p.Arg60Gly)
c.145C>G (p.Arg49Gly)
c.406C>G (p.Arg136Gly)
c.423C>G
n.564C>G
11g.17387686G=CA1955119355KCNJ11c.178C= (p.Arg60=)
c.145C= (p.Arg49=)
c.406C= (p.Arg136=)
c.423C=
n.564C=
11g.17387686G>TCA379773977KCNJ11c.178C>A (p.Arg60Ser)
c.145C>A (p.Arg49Ser)
c.406C>A (p.Arg136Ser)
c.423C>A
n.564C>A
 ClinVar dbSNP
11g.17387687C>ACA5902294KCNJ11c.177G>T (p.Gly59=)
c.144G>T (p.Gly48=)
c.405G>T (p.Gly135=)
c.422G>T
n.563G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387687C=CA1955119356KCNJ11c.177G= (p.Gly59=)
c.144G= (p.Gly48=)
c.405G= (p.Gly135=)
c.422G=
n.563G=
11g.17387687C>GCA473515579KCNJ11c.177G>C (p.Gly59=)
c.144G>C (p.Gly48=)
c.405G>C (p.Gly135=)
c.422G>C
n.563G>C
 dbSNP gnomAD v3 gnomAD v4
11g.17387687C>TCA473515577KCNJ11c.177G>A (p.Gly59=)
c.144G>A (p.Gly48=)
c.405G>A (p.Gly135=)
c.422G>A
n.563G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387692dupCA5902292KCNJ11c.177dup (p.Arg60AlafsTer5)
c.144dup (p.Arg49AlafsTer5)
c.405dup (p.Arg136AlafsTer5)
c.422dup
n.563dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387692delCA473515578KCNJ11c.177del (p.Arg60AlafsTer3)
c.144del (p.Arg49AlafsTer3)
c.405del (p.Arg136AlafsTer3)
c.422del
n.563del
 gnomAD v4 COSMIC
11g.17387688C>ACA379773983KCNJ11c.176G>T (p.Gly59Val)
c.143G>T (p.Gly48Val)
c.404G>T (p.Gly135Val)
c.421G>T
n.562G>T
11g.17387688C=CA1955119357KCNJ11c.176G= (p.Gly59=)
c.143G= (p.Gly48=)
c.404G= (p.Gly135=)
c.421G=
n.562G=
11g.17387688C>GCA379773984KCNJ11c.176G>C (p.Gly59Ala)
c.143G>C (p.Gly48Ala)
c.404G>C (p.Gly135Ala)
c.421G>C
n.562G>C
11g.17387688C>TCA5902295KCNJ11c.176G>A (p.Gly59Glu)
c.143G>A (p.Gly48Glu)
c.404G>A (p.Gly135Glu)
c.421G>A
n.562G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387689C>ACA379773987KCNJ11c.175G>T (p.Gly59Trp)
c.142G>T (p.Gly48Trp)
c.403G>T (p.Gly135Trp)
c.420G>T
n.561G>T
11g.17387689C>GCA379773989KCNJ11c.175G>C (p.Gly59Arg)
c.142G>C (p.Gly48Arg)
c.403G>C (p.Gly135Arg)
c.420G>C
n.561G>C
11g.17387689C>TCA379773990KCNJ11c.175G>A (p.Gly59Arg)
c.142G>A (p.Gly48Arg)
c.403G>A (p.Gly135Arg)
c.420G>A
n.561G>A
11g.17387690C>ACA473515580KCNJ11c.174G>T (p.Gly58=)
c.141G>T (p.Gly47=)
c.402G>T (p.Gly134=)
c.419G>T
n.560G>T
11g.17387690C>GCA473515581KCNJ11c.174G>C (p.Gly58=)
c.141G>C (p.Gly47=)
c.402G>C (p.Gly134=)
c.419G>C
n.560G>C
11g.17387690C>TCA473515582KCNJ11c.174G>A (p.Gly58=)
c.141G>A (p.Gly47=)
c.402G>A (p.Gly134=)
c.419G>A
n.560G>A

Number of alleles fetched