Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154772289A>CCA343067110KCNN3c.1134T>G (p.Ile378Met)
c.195T>G (p.Ile65Met)
c.219T>G (p.Ile73Met)
1g.154772289A>GCA421285997KCNN3c.1134T>C (p.Ile378=)
c.195T>C (p.Ile65=)
c.219T>C (p.Ile73=)
1g.154772289A>TCA421285998KCNN3c.1134T>A (p.Ile378=)
c.195T>A (p.Ile65=)
c.219T>A (p.Ile73=)
1g.154772290A>CCA343067111KCNN3c.1133T>G (p.Ile378Ser)
c.194T>G (p.Ile65Ser)
c.218T>G (p.Ile73Ser)
1g.154772290A>GCA343067112KCNN3c.1133T>C (p.Ile378Thr)
c.194T>C (p.Ile65Thr)
c.218T>C (p.Ile73Thr)
1g.154772290A>TCA343067114KCNN3c.1133T>A (p.Ile378Asn)
c.194T>A (p.Ile65Asn)
c.218T>A (p.Ile73Asn)
1g.154772291T>ACA343067116KCNN3c.1132A>T (p.Ile378Phe)
c.193A>T (p.Ile65Phe)
c.217A>T (p.Ile73Phe)
1g.154772291T>CCA343067118KCNN3c.1132A>G (p.Ile378Val)
c.193A>G (p.Ile65Val)
c.217A>G (p.Ile73Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154772291T>GCA343067120KCNN3c.1132A>C (p.Ile378Leu)
c.193A>C (p.Ile65Leu)
c.217A>C (p.Ile73Leu)
1g.154772291T=CA2481009314KCNN3c.1132A= (p.Ile378=)
c.193A= (p.Ile65=)
c.217A= (p.Ile73=)
1g.154772292G>ACA421286000KCNN3c.1131C>T (p.Pro377=)
c.192C>T (p.Pro64=)
c.216C>T (p.Pro72=)
1g.154772292G>CCA421286001KCNN3c.1131C>G (p.Pro377=)
c.192C>G (p.Pro64=)
c.216C>G (p.Pro72=)
1g.154772292G>TCA421286002KCNN3c.1131C>A (p.Pro377=)
c.192C>A (p.Pro64=)
c.216C>A (p.Pro72=)
1g.154772293G>ACA343067125KCNN3c.1130C>T (p.Pro377Leu)
c.191C>T (p.Pro64Leu)
c.215C>T (p.Pro72Leu)
1g.154772293G>CCA343067124KCNN3c.1130C>G (p.Pro377Arg)
c.191C>G (p.Pro64Arg)
c.215C>G (p.Pro72Arg)
1g.154772293G>TCA343067122KCNN3c.1130C>A (p.Pro377His)
c.191C>A (p.Pro64His)
c.215C>A (p.Pro72His)
1g.154772294G>ACA343067127KCNN3c.1129C>T (p.Pro377Ser)
c.190C>T (p.Pro64Ser)
c.214C>T (p.Pro72Ser)
1g.154772294G>CCA343067129KCNN3c.1129C>G (p.Pro377Ala)
c.190C>G (p.Pro64Ala)
c.214C>G (p.Pro72Ala)
1g.154772294G>TCA343067131KCNN3c.1129C>A (p.Pro377Thr)
c.190C>A (p.Pro64Thr)
c.214C>A (p.Pro72Thr)
1g.154772295G>ACA421286006KCNN3c.1128C>T (p.His376=)
c.189C>T (p.His63=)
c.213C>T (p.His71=)
1g.154772295G>CCA343067133KCNN3c.1128C>G (p.His376Gln)
c.189C>G (p.His63Gln)
c.213C>G (p.His71Gln)
1g.154772295G>TCA343067135KCNN3c.1128C>A (p.His376Gln)
c.189C>A (p.His63Gln)
c.213C>A (p.His71Gln)
1g.154772296T>ACA343067136KCNN3c.1127A>T (p.His376Leu)
c.188A>T (p.His63Leu)
c.212A>T (p.His71Leu)
1g.154772296T>CCA343067138KCNN3c.1127A>G (p.His376Arg)
c.188A>G (p.His63Arg)
c.212A>G (p.His71Arg)
1g.154772296T>GCA343067140KCNN3c.1127A>C (p.His376Pro)
c.188A>C (p.His63Pro)
c.212A>C (p.His71Pro)
 dbSNP
1g.154772297G>ACA343067142KCNN3c.1126C>T (p.His376Tyr)
c.187C>T (p.His63Tyr)
c.211C>T (p.His71Tyr)
 COSMIC COSMIC
1g.154772297G>CCA343067144KCNN3c.1126C>G (p.His376Asp)
c.187C>G (p.His63Asp)
c.211C>G (p.His71Asp)
1g.154772297G>TCA343067146KCNN3c.1126C>A (p.His376Asn)
c.187C>A (p.His63Asn)
c.211C>A (p.His71Asn)
1g.154772298G>ACA421286010KCNN3c.1125C>T (p.Ile375=)
c.186C>T (p.Ile62=)
c.210C>T (p.Ile70=)
 gnomAD v4
1g.154772298G>CCA343067148KCNN3c.1125C>G (p.Ile375Met)
c.186C>G (p.Ile62Met)
c.210C>G (p.Ile70Met)
1g.154772298G=CA2481009315KCNN3c.1125C= (p.Ile375=)
c.186C= (p.Ile62=)
c.210C= (p.Ile70=)
1g.154772298G>TCA421286009KCNN3c.1125C>A (p.Ile375=)
c.186C>A (p.Ile62=)
c.210C>A (p.Ile70=)
 dbSNP
1g.154772299A>CCA343067152KCNN3c.1124T>G (p.Ile375Ser)
c.185T>G (p.Ile62Ser)
c.209T>G (p.Ile70Ser)
1g.154772299A>GCA343067154KCNN3c.1124T>C (p.Ile375Thr)
c.185T>C (p.Ile62Thr)
c.209T>C (p.Ile70Thr)
1g.154772299A>TCA343067150KCNN3c.1124T>A (p.Ile375Asn)
c.185T>A (p.Ile62Asn)
c.209T>A (p.Ile70Asn)
1g.154772300T>ACA343067156KCNN3c.1123A>T (p.Ile375Phe)
c.184A>T (p.Ile62Phe)
c.208A>T (p.Ile70Phe)
1g.154772300T>CCA1132129KCNN3c.1123A>G (p.Ile375Val)
c.184A>G (p.Ile62Val)
c.208A>G (p.Ile70Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154772300T>GCA343067159KCNN3c.1123A>C (p.Ile375Leu)
c.184A>C (p.Ile62Leu)
c.208A>C (p.Ile70Leu)
1g.154772300T=CA2481009316KCNN3c.1123A= (p.Ile375=)
c.184A= (p.Ile62=)
c.208A= (p.Ile70=)
1g.154772301G>ACA421286017KCNN3c.1122C>T (p.Ala374=)
c.183C>T (p.Ala61=)
c.207C>T (p.Ala69=)
 gnomAD v4
1g.154772301G>CCA421286016KCNN3c.1122C>G (p.Ala374=)
c.183C>G (p.Ala61=)
c.207C>G (p.Ala69=)
1g.154772301G=CA2481009317KCNN3c.1122C= (p.Ala374=)
c.183C= (p.Ala61=)
c.207C= (p.Ala69=)
1g.154772301G>TCA421286015KCNN3c.1122C>A (p.Ala374=)
c.183C>A (p.Ala61=)
c.207C>A (p.Ala69=)
 dbSNP gnomAD v2 gnomAD v4
1g.154772302G>ACA343067161KCNN3c.1121C>T (p.Ala374Val)
c.182C>T (p.Ala61Val)
c.206C>T (p.Ala69Val)
1g.154772302G>CCA343067163KCNN3c.1121C>G (p.Ala374Gly)
c.182C>G (p.Ala61Gly)
c.206C>G (p.Ala69Gly)
1g.154772302G>TCA343067164KCNN3c.1121C>A (p.Ala374Asp)
c.182C>A (p.Ala61Asp)
c.206C>A (p.Ala69Asp)
1g.154772303C>ACA343067167KCNN3c.1120G>T (p.Ala374Ser)
c.181G>T (p.Ala61Ser)
c.205G>T (p.Ala69Ser)
1g.154772303C=CA2481009318KCNN3c.1120G= (p.Ala374=)
c.181G= (p.Ala61=)
c.205G= (p.Ala69=)
1g.154772303C>GCA343067168KCNN3c.1120G>C (p.Ala374Pro)
c.181G>C (p.Ala61Pro)
c.205G>C (p.Ala69Pro)
1g.154772303C>TCA1132130KCNN3c.1120G>A (p.Ala374Thr)
c.181G>A (p.Ala61Thr)
c.205G>A (p.Ala69Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.154772304G>ACA1132131KCNN3c.1119C>T (p.Cys373=)
c.180C>T (p.Cys60=)
c.204C>T (p.Cys68=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772304G>CCA343067170KCNN3c.1119C>G (p.Cys373Trp)
c.180C>G (p.Cys60Trp)
c.204C>G (p.Cys68Trp)
1g.154772304G=CA1141967351KCNN3c.1119C= (p.Cys373=)
c.180C= (p.Cys60=)
c.204C= (p.Cys68=)
1g.154772304G>TCA343067172KCNN3c.1119C>A (p.Cys373Ter)
c.180C>A (p.Cys60Ter)
c.204C>A (p.Cys68Ter)
1g.154772305C>ACA343067178KCNN3c.1118G>T (p.Cys373Phe)
c.179G>T (p.Cys60Phe)
c.203G>T (p.Cys68Phe)
1g.154772305C>GCA343067176KCNN3c.1118G>C (p.Cys373Ser)
c.179G>C (p.Cys60Ser)
c.203G>C (p.Cys68Ser)
1g.154772305C>TCA343067174KCNN3c.1118G>A (p.Cys373Tyr)
c.179G>A (p.Cys60Tyr)
c.203G>A (p.Cys68Tyr)
1g.154772306A>CCA343067179KCNN3c.1117T>G (p.Cys373Gly)
c.178T>G (p.Cys60Gly)
c.202T>G (p.Cys68Gly)
1g.154772306A>GCA343067181KCNN3c.1117T>C (p.Cys373Arg)
c.178T>C (p.Cys60Arg)
c.202T>C (p.Cys68Arg)
1g.154772306A>TCA343067183KCNN3c.1117T>A (p.Cys373Ser)
c.178T>A (p.Cys60Ser)
c.202T>A (p.Cys68Ser)
1g.154772307C>ACA421286026KCNN3c.1116G>T (p.Val372=)
c.177G>T (p.Val59=)
c.201G>T (p.Val67=)
1g.154772307C>GCA421286028KCNN3c.1116G>C (p.Val372=)
c.177G>C (p.Val59=)
c.201G>C (p.Val67=)
1g.154772307C>TCA421286029KCNN3c.1116G>A (p.Val372=)
c.177G>A (p.Val59=)
c.201G>A (p.Val67=)
1g.154772308A>CCA343067185KCNN3c.1115T>G (p.Val372Gly)
c.176T>G (p.Val59Gly)
c.200T>G (p.Val67Gly)
 gnomAD v4
1g.154772308A>GCA343067187KCNN3c.1115T>C (p.Val372Ala)
c.176T>C (p.Val59Ala)
c.200T>C (p.Val67Ala)
1g.154772308A>TCA343067189KCNN3c.1115T>A (p.Val372Glu)
c.176T>A (p.Val59Glu)
c.200T>A (p.Val67Glu)
 gnomAD v4
1g.154772309C>ACA343067191KCNN3c.1114G>T (p.Val372Leu)
c.175G>T (p.Val59Leu)
c.199G>T (p.Val67Leu)
1g.154772309C=CA2481009319KCNN3c.1114G= (p.Val372=)
c.175G= (p.Val59=)
c.199G= (p.Val67=)
1g.154772309C>GCA343067193KCNN3c.1114G>C (p.Val372Leu)
c.175G>C (p.Val59Leu)
c.199G>C (p.Val67Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154772309C>TCA343067195KCNN3c.1114G>A (p.Val372Met)
c.175G>A (p.Val59Met)
c.199G>A (p.Val67Met)
1g.154772310C>ACA421286033KCNN3c.1113G>T (p.Leu371=)
c.174G>T (p.Leu58=)
c.198G>T (p.Leu66=)
1g.154772310C>GCA421286034KCNN3c.1113G>C (p.Leu371=)
c.174G>C (p.Leu58=)
c.198G>C (p.Leu66=)
1g.154772310C>TCA421286035KCNN3c.1113G>A (p.Leu371=)
c.174G>A (p.Leu58=)
c.198G>A (p.Leu66=)
1g.154772311A>CCA343067197KCNN3c.1112T>G (p.Leu371Arg)
c.173T>G (p.Leu58Arg)
c.197T>G (p.Leu66Arg)
1g.154772311A>GCA343067199KCNN3c.1112T>C (p.Leu371Pro)
c.173T>C (p.Leu58Pro)
c.197T>C (p.Leu66Pro)
1g.154772311A>TCA343067201KCNN3c.1112T>A (p.Leu371Gln)
c.173T>A (p.Leu58Gln)
c.197T>A (p.Leu66Gln)
1g.154772312G>ACA30790789KCNN3c.1111C>T (p.Leu371=)
c.172C>T (p.Leu58=)
c.196C>T (p.Leu66=)
 dbSNP
1g.154772312G>CCA343067203KCNN3c.1111C>G (p.Leu371Val)
c.172C>G (p.Leu58Val)
c.196C>G (p.Leu66Val)
1g.154772312G=CA2481009320KCNN3c.1111C= (p.Leu371=)
c.172C= (p.Leu58=)
c.196C= (p.Leu66=)
1g.154772312G>TCA343067205KCNN3c.1111C>A (p.Leu371Met)
c.172C>A (p.Leu58Met)
c.196C>A (p.Leu66Met)
1g.154772313C>ACA343067210KCNN3c.1110G>T (p.Met370Ile)
c.171G>T (p.Met57Ile)
c.195G>T (p.Met65Ile)
 gnomAD v4
1g.154772313C>GCA343067212KCNN3c.1110G>C (p.Met370Ile)
c.171G>C (p.Met57Ile)
c.195G>C (p.Met65Ile)
1g.154772313C>TCA343067207KCNN3c.1110G>A (p.Met370Ile)
c.171G>A (p.Met57Ile)
c.195G>A (p.Met65Ile)
 gnomAD v4
1g.154772314A>CCA343067213KCNN3c.1109T>G (p.Met370Arg)
c.170T>G (p.Met57Arg)
c.194T>G (p.Met65Arg)
1g.154772314A>GCA343067214KCNN3c.1109T>C (p.Met370Thr)
c.170T>C (p.Met57Thr)
c.194T>C (p.Met65Thr)
1g.154772314A>TCA343067215KCNN3c.1109T>A (p.Met370Lys)
c.170T>A (p.Met57Lys)
c.194T>A (p.Met65Lys)
1g.154772315T>ACA343067216KCNN3c.1108A>T (p.Met370Leu)
c.169A>T (p.Met57Leu)
c.193A>T (p.Met65Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.154772315T>CCA343067217KCNN3c.1108A>G (p.Met370Val)
c.169A>G (p.Met57Val)
c.193A>G (p.Met65Val)
 gnomAD v4
1g.154772315T>GCA343067218KCNN3c.1108A>C (p.Met370Leu)
c.169A>C (p.Met57Leu)
c.193A>C (p.Met65Leu)
1g.154772315T=CA2481009321KCNN3c.1108A= (p.Met370=)
c.169A= (p.Met57=)
c.193A= (p.Met65=)
1g.154772316C>ACA343067220KCNN3c.1107G>T (p.Glu369Asp)
c.168G>T (p.Glu56Asp)
c.192G>T (p.Glu64Asp)
 gnomAD v4
1g.154772316C>GCA343067219KCNN3c.1107G>C (p.Glu369Asp)
c.168G>C (p.Glu56Asp)
c.192G>C (p.Glu64Asp)
1g.154772316C>TCA421286039KCNN3c.1107G>A (p.Glu369=)
c.168G>A (p.Glu56=)
c.192G>A (p.Glu64=)
1g.154772317T>ACA343067221KCNN3c.1106A>T (p.Glu369Val)
c.167A>T (p.Glu56Val)
c.191A>T (p.Glu64Val)
1g.154772317T>CCA343067222KCNN3c.1106A>G (p.Glu369Gly)
c.167A>G (p.Glu56Gly)
c.191A>G (p.Glu64Gly)
1g.154772317T>GCA343067223KCNN3c.1106A>C (p.Glu369Ala)
c.167A>C (p.Glu56Ala)
c.191A>C (p.Glu64Ala)
1g.154772318C>ACA343067224KCNN3c.1105G>T (p.Glu369Ter)
c.166G>T (p.Glu56Ter)
c.190G>T (p.Glu64Ter)
1g.154772318C>GCA343067225KCNN3c.1105G>C (p.Glu369Gln)
c.166G>C (p.Glu56Gln)
c.190G>C (p.Glu64Gln)
1g.154772318C>TCA343067226KCNN3c.1105G>A (p.Glu369Lys)
c.166G>A (p.Glu56Lys)
c.190G>A (p.Glu64Lys)
1g.154772319C>ACA421286045KCNN3c.1104G>T (p.Leu368=)
c.165G>T (p.Leu55=)
c.189G>T (p.Leu63=)
1g.154772319C>GCA421286043KCNN3c.1104G>C (p.Leu368=)
c.165G>C (p.Leu55=)
c.189G>C (p.Leu63=)
1g.154772319C>TCA421286044KCNN3c.1104G>A (p.Leu368=)
c.165G>A (p.Leu55=)
c.189G>A (p.Leu63=)
1g.154772320A>CCA343067227KCNN3c.1103T>G (p.Leu368Arg)
c.164T>G (p.Leu55Arg)
c.188T>G (p.Leu63Arg)
1g.154772320A>GCA343067229KCNN3c.1103T>C (p.Leu368Pro)
c.164T>C (p.Leu55Pro)
c.188T>C (p.Leu63Pro)
1g.154772320A>TCA343067228KCNN3c.1103T>A (p.Leu368Gln)
c.164T>A (p.Leu55Gln)
c.188T>A (p.Leu63Gln)
1g.154772321G>ACA421286046KCNN3c.1102C>T (p.Leu368=)
c.163C>T (p.Leu55=)
c.187C>T (p.Leu63=)
1g.154772321G>CCA343067230KCNN3c.1102C>G (p.Leu368Val)
c.163C>G (p.Leu55Val)
c.187C>G (p.Leu63Val)
1g.154772321G>TCA343067231KCNN3c.1102C>A (p.Leu368Met)
c.163C>A (p.Leu55Met)
c.187C>A (p.Leu63Met)
1g.154772322G>ACA421286047KCNN3c.1101C>T (p.Ser367=)
c.162C>T (p.Ser54=)
c.186C>T (p.Ser62=)
 gnomAD v4
1g.154772322G>CCA343067232KCNN3c.1101C>G (p.Ser367Arg)
c.162C>G (p.Ser54Arg)
c.186C>G (p.Ser62Arg)
1g.154772322G>TCA343067233KCNN3c.1101C>A (p.Ser367Arg)
c.162C>A (p.Ser54Arg)
c.186C>A (p.Ser62Arg)
1g.154772323C>ACA343067234KCNN3c.1100G>T (p.Ser367Ile)
c.161G>T (p.Ser54Ile)
c.185G>T (p.Ser62Ile)
1g.154772323C>GCA343067235KCNN3c.1100G>C (p.Ser367Thr)
c.161G>C (p.Ser54Thr)
c.185G>C (p.Ser62Thr)
 ClinVar
1g.154772323C>TCA343067236KCNN3c.1100G>A (p.Ser367Asn)
c.161G>A (p.Ser54Asn)
c.185G>A (p.Ser62Asn)
1g.154772324T>ACA343067237KCNN3c.1099A>T (p.Ser367Cys)
c.160A>T (p.Ser54Cys)
c.184A>T (p.Ser62Cys)
1g.154772324T>CCA343067238KCNN3c.1099A>G (p.Ser367Gly)
c.160A>G (p.Ser54Gly)
c.184A>G (p.Ser62Gly)
1g.154772324T>GCA343067239KCNN3c.1099A>C (p.Ser367Arg)
c.160A>C (p.Ser54Arg)
c.184A>C (p.Ser62Arg)
1g.154772325G>ACA421286052KCNN3c.1098C>T (p.Ile366=)
c.159C>T (p.Ile53=)
c.183C>T (p.Ile61=)
1g.154772325G>CCA343067240KCNN3c.1098C>G (p.Ile366Met)
c.159C>G (p.Ile53Met)
c.183C>G (p.Ile61Met)
1g.154772325G>TCA421286053KCNN3c.1098C>A (p.Ile366=)
c.159C>A (p.Ile53=)
c.183C>A (p.Ile61=)
1g.154772326A>CCA343067242KCNN3c.1097T>G (p.Ile366Ser)
c.158T>G (p.Ile53Ser)
c.182T>G (p.Ile61Ser)
1g.154772326A>GCA343067243KCNN3c.1097T>C (p.Ile366Thr)
c.158T>C (p.Ile53Thr)
c.182T>C (p.Ile61Thr)
1g.154772326A>TCA343067241KCNN3c.1097T>A (p.Ile366Asn)
c.158T>A (p.Ile53Asn)
c.182T>A (p.Ile61Asn)
1g.154772327T>ACA343067246KCNN3c.1096A>T (p.Ile366Phe)
c.157A>T (p.Ile53Phe)
c.181A>T (p.Ile61Phe)
1g.154772327T>CCA343067244KCNN3c.1096A>G (p.Ile366Val)
c.157A>G (p.Ile53Val)
c.181A>G (p.Ile61Val)
 gnomAD v4
1g.154772327T>GCA343067245KCNN3c.1096A>C (p.Ile366Leu)
c.157A>C (p.Ile53Leu)
c.181A>C (p.Ile61Leu)
1g.154772328G>ACA421286058KCNN3c.1095C>T (p.Tyr365=)
c.156C>T (p.Tyr52=)
c.180C>T (p.Tyr60=)
 dbSNP gnomAD v3 gnomAD v4
1g.154772328G>CCA343067247KCNN3c.1095C>G (p.Tyr365Ter)
c.156C>G (p.Tyr52Ter)
c.180C>G (p.Tyr60Ter)
1g.154772328G=CA2481009322KCNN3c.1095C= (p.Tyr365=)
c.156C= (p.Tyr52=)
c.180C= (p.Tyr60=)
1g.154772328G>TCA343067248KCNN3c.1095C>A (p.Tyr365Ter)
c.156C>A (p.Tyr52Ter)
c.180C>A (p.Tyr60Ter)
1g.154772329T>ACA343067249KCNN3c.1094A>T (p.Tyr365Phe)
c.155A>T (p.Tyr52Phe)
c.179A>T (p.Tyr60Phe)
1g.154772329T>CCA1132132KCNN3c.1094A>G (p.Tyr365Cys)
c.155A>G (p.Tyr52Cys)
c.179A>G (p.Tyr60Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154772329T>GCA343067250KCNN3c.1094A>C (p.Tyr365Ser)
c.155A>C (p.Tyr52Ser)
c.179A>C (p.Tyr60Ser)
1g.154772329T=CA2481009323KCNN3c.1094A= (p.Tyr365=)
c.155A= (p.Tyr52=)
c.179A= (p.Tyr60=)
1g.154772330A>CCA343067251KCNN3c.1093T>G (p.Tyr365Asp)
c.154T>G (p.Tyr52Asp)
c.178T>G (p.Tyr60Asp)
1g.154772330A>GCA343067252KCNN3c.1093T>C (p.Tyr365His)
c.154T>C (p.Tyr52His)
c.178T>C (p.Tyr60His)
1g.154772330A>TCA343067253KCNN3c.1093T>A (p.Tyr365Asn)
c.154T>A (p.Tyr52Asn)
c.178T>A (p.Tyr60Asn)
1g.154772331C>ACA421286065KCNN3c.1092G>T (p.Leu364=)
c.153G>T (p.Leu51=)
c.177G>T (p.Leu59=)
1g.154772331C=CA1139849326KCNN3c.1092G= (p.Leu364=)
c.153G= (p.Leu51=)
c.177G= (p.Leu59=)
1g.154772331C>GCA1132133KCNN3c.1092G>C (p.Leu364=)
c.153G>C (p.Leu51=)
c.177G>C (p.Leu59=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772331C>TCA1132134KCNN3c.1092G>A (p.Leu364=)
c.153G>A (p.Leu51=)
c.177G>A (p.Leu59=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772332A>CCA343067254KCNN3c.1091T>G (p.Leu364Arg)
c.152T>G (p.Leu51Arg)
c.176T>G (p.Leu59Arg)
1g.154772332A>GCA343067255KCNN3c.1091T>C (p.Leu364Pro)
c.152T>C (p.Leu51Pro)
c.176T>C (p.Leu59Pro)
1g.154772332A>TCA343067256KCNN3c.1091T>A (p.Leu364Gln)
c.152T>A (p.Leu51Gln)
c.176T>A (p.Leu59Gln)
1g.154772333G>ACA421286067KCNN3c.1090C>T (p.Leu364=)
c.151C>T (p.Leu51=)
c.175C>T (p.Leu59=)
1g.154772333G>CCA343067257KCNN3c.1090C>G (p.Leu364Val)
c.151C>G (p.Leu51Val)
c.175C>G (p.Leu59Val)
1g.154772333G>TCA343067258KCNN3c.1090C>A (p.Leu364Met)
c.151C>A (p.Leu51Met)
c.175C>A (p.Leu59Met)
1g.154772334G>ACA421286069KCNN3c.1089C>T (p.Ile363=)
c.150C>T (p.Ile50=)
c.174C>T (p.Ile58=)
1g.154772334G>CCA343067259KCNN3c.1089C>G (p.Ile363Met)
c.150C>G (p.Ile50Met)
c.174C>G (p.Ile58Met)
 gnomAD v4
1g.154772334G>TCA421286072KCNN3c.1089C>A (p.Ile363=)
c.150C>A (p.Ile50=)
c.174C>A (p.Ile58=)
1g.154772335A=CA2481009324KCNN3c.1088T= (p.Ile363=)
c.149T= (p.Ile50=)
c.173T= (p.Ile58=)
1g.154772335A>CCA343067260KCNN3c.1088T>G (p.Ile363Ser)
c.149T>G (p.Ile50Ser)
c.173T>G (p.Ile58Ser)
1g.154772335A>GCA343067261KCNN3c.1088T>C (p.Ile363Thr)
c.149T>C (p.Ile50Thr)
c.173T>C (p.Ile58Thr)
1g.154772335A>TCA1132135KCNN3c.1088T>A (p.Ile363Asn)
c.149T>A (p.Ile50Asn)
c.173T>A (p.Ile58Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772336T>ACA343067262KCNN3c.1087A>T (p.Ile363Phe)
c.148A>T (p.Ile50Phe)
c.172A>T (p.Ile58Phe)
1g.154772336T>CCA343067263KCNN3c.1087A>G (p.Ile363Val)
c.148A>G (p.Ile50Val)
c.172A>G (p.Ile58Val)
1g.154772336T>GCA343067264KCNN3c.1087A>C (p.Ile363Leu)
c.148A>C (p.Ile50Leu)
c.172A>C (p.Ile58Leu)
1g.154772337G>ACA421286074KCNN3c.1086C>T (p.Arg362=)
c.147C>T (p.Arg49=)
c.171C>T (p.Arg57=)
1g.154772337G>CCA421286075KCNN3c.1086C>G (p.Arg362=)
c.147C>G (p.Arg49=)
c.171C>G (p.Arg57=)
1g.154772337G>TCA421286076KCNN3c.1086C>A (p.Arg362=)
c.147C>A (p.Arg49=)
c.171C>A (p.Arg57=)
1g.154772338C>ACA343067265KCNN3c.1085G>T (p.Arg362Leu)
c.146G>T (p.Arg49Leu)
c.170G>T (p.Arg57Leu)
1g.154772338C=CA2481009325KCNN3c.1085G= (p.Arg362=)
c.146G= (p.Arg49=)
c.170G= (p.Arg57=)
1g.154772338C>GCA343067266KCNN3c.1085G>C (p.Arg362Pro)
c.146G>C (p.Arg49Pro)
c.170G>C (p.Arg57Pro)
1g.154772338C>TCA343067267KCNN3c.1085G>A (p.Arg362His)
c.146G>A (p.Arg49His)
c.170G>A (p.Arg57His)
 dbSNP gnomAD v2 gnomAD v4
1g.154772339G>ACA343067268KCNN3c.1084C>T (p.Arg362Cys)
c.145C>T (p.Arg49Cys)
c.169C>T (p.Arg57Cys)
 dbSNP COSMIC COSMIC
1g.154772339G>CCA343067269KCNN3c.1084C>G (p.Arg362Gly)
c.145C>G (p.Arg49Gly)
c.169C>G (p.Arg57Gly)
1g.154772339G=CA2481009326KCNN3c.1084C= (p.Arg362=)
c.145C= (p.Arg49=)
c.169C= (p.Arg57=)
1g.154772339G>TCA343067270KCNN3c.1084C>A (p.Arg362Ser)
c.145C>A (p.Arg49Ser)
c.169C>A (p.Arg57Ser)
 COSMIC COSMIC
1g.154772340C>ACA343067272KCNN3c.1083G>T (p.Glu361Asp)
c.144G>T (p.Glu48Asp)
c.168G>T (p.Glu56Asp)
1g.154772340C>GCA343067271KCNN3c.1083G>C (p.Glu361Asp)
c.144G>C (p.Glu48Asp)
c.168G>C (p.Glu56Asp)
 gnomAD v4
1g.154772340C>TCA421286080KCNN3c.1083G>A (p.Glu361=)
c.144G>A (p.Glu48=)
c.168G>A (p.Glu56=)
1g.154772341T>ACA343067273KCNN3c.1082A>T (p.Glu361Val)
c.143A>T (p.Glu48Val)
c.167A>T (p.Glu56Val)
 gnomAD v4
1g.154772341T>CCA343067274KCNN3c.1082A>G (p.Glu361Gly)
c.143A>G (p.Glu48Gly)
c.167A>G (p.Glu56Gly)
1g.154772341T>GCA343067275KCNN3c.1082A>C (p.Glu361Ala)
c.143A>C (p.Glu48Ala)
c.167A>C (p.Glu56Ala)
1g.154772342C>ACA343067276KCNN3c.1081G>T (p.Glu361Ter)
c.142G>T (p.Glu48Ter)
c.166G>T (p.Glu56Ter)
1g.154772342C=CA2481009327KCNN3c.1081G= (p.Glu361=)
c.142G= (p.Glu48=)
c.166G= (p.Glu56=)
1g.154772342C>GCA343067277KCNN3c.1081G>C (p.Glu361Gln)
c.142G>C (p.Glu48Gln)
c.166G>C (p.Glu56Gln)
 gnomAD v4
1g.154772342C>TCA1132136KCNN3c.1081G>A (p.Glu361Lys)
c.142G>A (p.Glu48Lys)
c.166G>A (p.Glu56Lys)
 dbSNP ExAC gnomAD v4
1g.154772343G>ACA30790798KCNN3c.1080C>T (p.Tyr360=)
c.141C>T (p.Tyr47=)
c.165C>T (p.Tyr55=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154772343G>CCA343067279KCNN3c.1080C>G (p.Tyr360Ter)
c.141C>G (p.Tyr47Ter)
c.165C>G (p.Tyr55Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.154772343G=CA2481009328KCNN3c.1080C= (p.Tyr360=)
c.141C= (p.Tyr47=)
c.165C= (p.Tyr55=)
1g.154772343G>TCA343067278KCNN3c.1080C>A (p.Tyr360Ter)
c.141C>A (p.Tyr47Ter)
c.165C>A (p.Tyr55Ter)
 dbSNP
1g.154772344T>ACA343067280KCNN3c.1079A>T (p.Tyr360Phe)
c.140A>T (p.Tyr47Phe)
c.164A>T (p.Tyr55Phe)
1g.154772344T>CCA343067281KCNN3c.1079A>G (p.Tyr360Cys)
c.140A>G (p.Tyr47Cys)
c.164A>G (p.Tyr55Cys)
 dbSNP
1g.154772344T>GCA343067282KCNN3c.1079A>C (p.Tyr360Ser)
c.140A>C (p.Tyr47Ser)
c.164A>C (p.Tyr55Ser)
1g.154772345A=CA2481009329KCNN3c.1078T= (p.Tyr360=)
c.139T= (p.Tyr47=)
c.163T= (p.Tyr55=)
1g.154772345A>CCA343067283KCNN3c.1078T>G (p.Tyr360Asp)
c.139T>G (p.Tyr47Asp)
c.163T>G (p.Tyr55Asp)
1g.154772345A>GCA343067284KCNN3c.1078T>C (p.Tyr360His)
c.139T>C (p.Tyr47His)
c.163T>C (p.Tyr55His)
 dbSNP gnomAD v2 gnomAD v4
1g.154772345A>TCA343067285KCNN3c.1078T>A (p.Tyr360Asn)
c.139T>A (p.Tyr47Asn)
c.163T>A (p.Tyr55Asn)
1g.154772346G>ACA421286088KCNN3c.1077C>T (p.Thr359=)
c.138C>T (p.Thr46=)
c.162C>T (p.Thr54=)
1g.154772346G>CCA421286086KCNN3c.1077C>G (p.Thr359=)
c.138C>G (p.Thr46=)
c.162C>G (p.Thr54=)
 gnomAD v4
1g.154772346G>TCA421286087KCNN3c.1077C>A (p.Thr359=)
c.138C>A (p.Thr46=)
c.162C>A (p.Thr54=)
1g.154772347G>ACA343067287KCNN3c.1076C>T (p.Thr359Ile)
c.137C>T (p.Thr46Ile)
c.161C>T (p.Thr54Ile)
1g.154772347G>CCA1132137KCNN3c.1076C>G (p.Thr359Ser)
c.137C>G (p.Thr46Ser)
c.161C>G (p.Thr54Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772347G=CA2481009330KCNN3c.1076C= (p.Thr359=)
c.137C= (p.Thr46=)
c.161C= (p.Thr54=)
1g.154772347G>TCA343067286KCNN3c.1076C>A (p.Thr359Asn)
c.137C>A (p.Thr46Asn)
c.161C>A (p.Thr54Asn)
 dbSNP
1g.154772348T>ACA343067288KCNN3c.1075A>T (p.Thr359Ser)
c.136A>T (p.Thr46Ser)
c.160A>T (p.Thr54Ser)
1g.154772348T>CCA343067289KCNN3c.1075A>G (p.Thr359Ala)
c.136A>G (p.Thr46Ala)
c.160A>G (p.Thr54Ala)
 COSMIC COSMIC
1g.154772348T>GCA343067290KCNN3c.1075A>C (p.Thr359Pro)
c.136A>C (p.Thr46Pro)
c.160A>C (p.Thr54Pro)
1g.154772348T=CA2481009331KCNN3c.1075A= (p.Thr359=)
c.136A= (p.Thr46=)
c.160A= (p.Thr54=)
1g.154772349C>ACA343067291KCNN3c.1074G>T (p.Met358Ile)
c.135G>T (p.Met45Ile)
c.159G>T (p.Met53Ile)
1g.154772349C>GCA343067292KCNN3c.1074G>C (p.Met358Ile)
c.135G>C (p.Met45Ile)
c.159G>C (p.Met53Ile)
1g.154772349C>TCA343067293KCNN3c.1074G>A (p.Met358Ile)
c.135G>A (p.Met45Ile)
c.159G>A (p.Met53Ile)
1g.154772350_154772351insCTGTGCCTTGGTCTTAGCGGGGGCTTGTGACCCACA1132138KCNN3c.1074_1075insGGTCACAAGCCCCCGCTAAGACCAAGGCACAGTG (p.Thr359GlyfsTer?)
c.135_136insGGTCACAAGCCCCCGCTAAGACCAAGGCACAGTG (p.Thr46GlyfsTer?)
c.159_160insGGTCACAAGCCCCCGCTAAGACCAAGGCACAGTG (p.Thr54GlyfsTer?)
 dbSNP ExAC
1g.154772350A>CCA343067294KCNN3c.1073T>G (p.Met358Arg)
c.134T>G (p.Met45Arg)
c.158T>G (p.Met53Arg)
1g.154772350A>GCA343067295KCNN3c.1073T>C (p.Met358Thr)
c.134T>C (p.Met45Thr)
c.158T>C (p.Met53Thr)
 COSMIC COSMIC
1g.154772350A>TCA343067296KCNN3c.1073T>A (p.Met358Lys)
c.134T>A (p.Met45Lys)
c.158T>A (p.Met53Lys)
1g.154772351T>ACA343067297KCNN3c.1072A>T (p.Met358Leu)
c.133A>T (p.Met45Leu)
c.157A>T (p.Met53Leu)
1g.154772351T>CCA343067298KCNN3c.1072A>G (p.Met358Val)
c.133A>G (p.Met45Val)
c.157A>G (p.Met53Val)
 dbSNP gnomAD v4
1g.154772351T>GCA343067299KCNN3c.1072A>C (p.Met358Leu)
c.133A>C (p.Met45Leu)
c.157A>C (p.Met53Leu)
1g.154772351T=CA2481009332KCNN3c.1072A= (p.Met358=)
c.133A= (p.Met45=)
c.157A= (p.Met53=)
1g.154772352G>ACA421286096KCNN3c.1071C>T (p.Ala357=)
c.132C>T (p.Ala44=)
c.156C>T (p.Ala52=)
1g.154772352G>CCA421286097KCNN3c.1071C>G (p.Ala357=)
c.132C>G (p.Ala44=)
c.156C>G (p.Ala52=)
1g.154772352G>TCA421286098KCNN3c.1071C>A (p.Ala357=)
c.132C>A (p.Ala44=)
c.156C>A (p.Ala52=)
1g.154772353G>ACA343067300KCNN3c.1070C>T (p.Ala357Val)
c.131C>T (p.Ala44Val)
c.155C>T (p.Ala52Val)
1g.154772353G>CCA343067302KCNN3c.1070C>G (p.Ala357Gly)
c.131C>G (p.Ala44Gly)
c.155C>G (p.Ala52Gly)
 COSMIC COSMIC
1g.154772353G>TCA343067301KCNN3c.1070C>A (p.Ala357Asp)
c.131C>A (p.Ala44Asp)
c.155C>A (p.Ala52Asp)
1g.154772354C>ACA343067303KCNN3c.1069G>T (p.Ala357Ser)
c.130G>T (p.Ala44Ser)
c.154G>T (p.Ala52Ser)
1g.154772354C>GCA343067305KCNN3c.1069G>C (p.Ala357Pro)
c.130G>C (p.Ala44Pro)
c.154G>C (p.Ala52Pro)
1g.154772354C>TCA343067304KCNN3c.1069G>A (p.Ala357Thr)
c.130G>A (p.Ala44Thr)
c.154G>A (p.Ala52Thr)
1g.154772355T>ACA421286100KCNN3c.1068A>T (p.Ile356=)
c.129A>T (p.Ile43=)
c.153A>T (p.Ile51=)
1g.154772355T>CCA343067306KCNN3c.1068A>G (p.Ile356Met)
c.129A>G (p.Ile43Met)
c.153A>G (p.Ile51Met)
1g.154772355T>GCA421286103KCNN3c.1068A>C (p.Ile356=)
c.129A>C (p.Ile43=)
c.153A>C (p.Ile51=)
1g.154772356A>CCA343067307KCNN3c.1067T>G (p.Ile356Arg)
c.128T>G (p.Ile43Arg)
c.152T>G (p.Ile51Arg)
1g.154772356A>GCA343067308KCNN3c.1067T>C (p.Ile356Thr)
c.128T>C (p.Ile43Thr)
c.152T>C (p.Ile51Thr)
1g.154772356A>TCA343067309KCNN3c.1067T>A (p.Ile356Lys)
c.128T>A (p.Ile43Lys)
c.152T>A (p.Ile51Lys)
1g.154772357T>ACA343067310KCNN3c.1066A>T (p.Ile356Leu)
c.127A>T (p.Ile43Leu)
c.151A>T (p.Ile51Leu)
1g.154772357T>CCA343067311KCNN3c.1066A>G (p.Ile356Val)
c.127A>G (p.Ile43Val)
c.151A>G (p.Ile51Val)
1g.154772357T>GCA343067312KCNN3c.1066A>C (p.Ile356Leu)
c.127A>C (p.Ile43Leu)
c.151A>C (p.Ile51Leu)
1g.154772358C>ACA421286107KCNN3c.1065G>T (p.Arg355=)
c.126G>T (p.Arg42=)
c.150G>T (p.Arg50=)
 dbSNP
1g.154772358C=CA2481009333KCNN3c.1065G= (p.Arg355=)
c.126G= (p.Arg42=)
c.150G= (p.Arg50=)
1g.154772358C>GCA421286108KCNN3c.1065G>C (p.Arg355=)
c.126G>C (p.Arg42=)
c.150G>C (p.Arg50=)
1g.154772358C>TCA421286110KCNN3c.1065G>A (p.Arg355=)
c.126G>A (p.Arg42=)
c.150G>A (p.Arg50=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154772359C>ACA343067313KCNN3c.1064G>T (p.Arg355Leu)
c.125G>T (p.Arg42Leu)
c.149G>T (p.Arg50Leu)
 gnomAD v4
1g.154772359C>GCA343067314KCNN3c.1064G>C (p.Arg355Pro)
c.125G>C (p.Arg42Pro)
c.149G>C (p.Arg50Pro)
1g.154772359C>TCA343067315KCNN3c.1064G>A (p.Arg355Gln)
c.125G>A (p.Arg42Gln)
c.149G>A (p.Arg50Gln)
 gnomAD v4
1g.154772360G>ACA1132139KCNN3c.1063C>T (p.Arg355Trp)
c.124C>T (p.Arg42Trp)
c.148C>T (p.Arg50Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154772360G>CCA343067316KCNN3c.1063C>G (p.Arg355Gly)
c.124C>G (p.Arg42Gly)
c.148C>G (p.Arg50Gly)
1g.154772360G=CA2481009334KCNN3c.1063C= (p.Arg355=)
c.124C= (p.Arg42=)
c.148C= (p.Arg50=)
1g.154772360G>TCA421286113KCNN3c.1063C>A (p.Arg355=)
c.124C>A (p.Arg42=)
c.148C>A (p.Arg50=)
 dbSNP gnomAD v2 gnomAD v4
1g.154772361C>ACA343067319KCNN3c.1062G>T (p.Trp354Cys)
c.123G>T (p.Trp41Cys)
c.147G>T (p.Trp49Cys)
1g.154772361C>GCA343067317KCNN3c.1062G>C (p.Trp354Cys)
c.123G>C (p.Trp41Cys)
c.147G>C (p.Trp49Cys)
1g.154772361C>TCA343067318KCNN3c.1062G>A (p.Trp354Ter)
c.123G>A (p.Trp41Ter)
c.147G>A (p.Trp49Ter)
1g.154772362C>ACA343067320KCNN3c.1061G>T (p.Trp354Leu)
c.122G>T (p.Trp41Leu)
c.146G>T (p.Trp49Leu)
1g.154772362C>GCA343067321KCNN3c.1061G>C (p.Trp354Ser)
c.122G>C (p.Trp41Ser)
c.146G>C (p.Trp49Ser)
1g.154772362C>TCA343067322KCNN3c.1061G>A (p.Trp354Ter)
c.122G>A (p.Trp41Ter)
c.146G>A (p.Trp49Ter)
1g.154772363A>CCA343067323KCNN3c.1060T>G (p.Trp354Gly)
c.121T>G (p.Trp41Gly)
c.145T>G (p.Trp49Gly)
1g.154772363A>GCA343067324KCNN3c.1060T>C (p.Trp354Arg)
c.121T>C (p.Trp41Arg)
c.145T>C (p.Trp49Arg)
1g.154772363A>TCA343067325KCNN3c.1060T>A (p.Trp354Arg)
c.121T>A (p.Trp41Arg)
c.145T>A (p.Trp49Arg)
1g.154772364G>ACA421286114KCNN3c.1059C>T (p.Asp353=)
c.120C>T (p.Asp40=)
c.144C>T (p.Asp48=)
1g.154772364G>CCA343067326KCNN3c.1059C>G (p.Asp353Glu)
c.120C>G (p.Asp40Glu)
c.144C>G (p.Asp48Glu)
1g.154772364G>TCA343067327KCNN3c.1059C>A (p.Asp353Glu)
c.120C>A (p.Asp40Glu)
c.144C>A (p.Asp48Glu)
1g.154772365T>ACA343067328KCNN3c.1058A>T (p.Asp353Val)
c.119A>T (p.Asp40Val)
c.143A>T (p.Asp48Val)
1g.154772365T>CCA343067329KCNN3c.1058A>G (p.Asp353Gly)
c.119A>G (p.Asp40Gly)
c.143A>G (p.Asp48Gly)
1g.154772365T>GCA343067330KCNN3c.1058A>C (p.Asp353Ala)
c.119A>C (p.Asp40Ala)
c.143A>C (p.Asp48Ala)
1g.154772366C>ACA343067333KCNN3c.1057G>T (p.Asp353Tyr)
c.118G>T (p.Asp40Tyr)
c.142G>T (p.Asp48Tyr)
 gnomAD v4
1g.154772366C>GCA343067332KCNN3c.1057G>C (p.Asp353His)
c.118G>C (p.Asp40His)
c.142G>C (p.Asp48His)
1g.154772366C>TCA343067331KCNN3c.1057G>A (p.Asp353Asn)
c.118G>A (p.Asp40Asn)
c.142G>A (p.Asp48Asn)
 gnomAD v4
1g.154772367A>CCA343067334KCNN3c.1056T>G (p.Asp352Glu)
c.117T>G (p.Asp39Glu)
c.141T>G (p.Asp47Glu)
1g.154772367A>GCA421286118KCNN3c.1056T>C (p.Asp352=)
c.117T>C (p.Asp39=)
c.141T>C (p.Asp47=)
1g.154772367A>TCA343067335KCNN3c.1056T>A (p.Asp352Glu)
c.117T>A (p.Asp39Glu)
c.141T>A (p.Asp47Glu)
1g.154772368T>ACA343067336KCNN3c.1055A>T (p.Asp352Val)
c.116A>T (p.Asp39Val)
c.140A>T (p.Asp47Val)
1g.154772368T>CCA343067337KCNN3c.1055A>G (p.Asp352Gly)
c.116A>G (p.Asp39Gly)
c.140A>G (p.Asp47Gly)
 gnomAD v4
1g.154772368T>GCA343067338KCNN3c.1055A>C (p.Asp352Ala)
c.116A>C (p.Asp39Ala)
c.140A>C (p.Asp47Ala)
1g.154772369C>ACA343067339KCNN3c.1054G>T (p.Asp352Tyr)
c.115G>T (p.Asp39Tyr)
c.139G>T (p.Asp47Tyr)
1g.154772369C>GCA343067340KCNN3c.1054G>C (p.Asp352His)
c.115G>C (p.Asp39His)
c.139G>C (p.Asp47His)
 gnomAD v4
1g.154772369C>TCA343067341KCNN3c.1054G>A (p.Asp352Asn)
c.115G>A (p.Asp39Asn)
c.139G>A (p.Asp47Asn)
1g.154772370C>ACA421286121KCNN3c.1053G>T (p.Ala351=)
c.114G>T (p.Ala38=)
c.138G>T (p.Ala46=)
 gnomAD v4
1g.154772370C=CA1145215564KCNN3c.1053G= (p.Ala351=)
c.114G= (p.Ala38=)
c.138G= (p.Ala46=)
1g.154772370C>GCA421286125KCNN3c.1053G>C (p.Ala351=)
c.114G>C (p.Ala38=)
c.138G>C (p.Ala46=)
1g.154772370C>TCA30790808KCNN3c.1053G>A (p.Ala351=)
c.114G>A (p.Ala38=)
c.138G>A (p.Ala46=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154772371G>ACA343067342KCNN3c.1052C>T (p.Ala351Val)
c.113C>T (p.Ala38Val)
c.137C>T (p.Ala46Val)
 dbSNP gnomAD v3 gnomAD v4
1g.154772371G>CCA343067343KCNN3c.1052C>G (p.Ala351Gly)
c.113C>G (p.Ala38Gly)
c.137C>G (p.Ala46Gly)
1g.154772371G=CA2481009335KCNN3c.1052C= (p.Ala351=)
c.113C= (p.Ala38=)
c.137C= (p.Ala46=)
1g.154772371G>TCA343067344KCNN3c.1052C>A (p.Ala351Glu)
c.113C>A (p.Ala38Glu)
c.137C>A (p.Ala46Glu)
1g.154772372C>ACA343067347KCNN3c.1051G>T (p.Ala351Ser)
c.112G>T (p.Ala38Ser)
c.136G>T (p.Ala46Ser)
1g.154772372C=CA2481009336KCNN3c.1051G= (p.Ala351=)
c.112G= (p.Ala38=)
c.136G= (p.Ala46=)
1g.154772372C>GCA343067346KCNN3c.1051G>C (p.Ala351Pro)
c.112G>C (p.Ala38Pro)
c.136G>C (p.Ala46Pro)
1g.154772372C>TCA343067345KCNN3c.1051G>A (p.Ala351Thr)
c.112G>A (p.Ala38Thr)
c.136G>A (p.Ala46Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154772373G>ACA421286129KCNN3c.1050C>T (p.Gly350=)
c.111C>T (p.Gly37=)
c.135C>T (p.Gly45=)
 dbSNP gnomAD v2 gnomAD v4
1g.154772373G>CCA421286130KCNN3c.1050C>G (p.Gly350=)
c.111C>G (p.Gly37=)
c.135C>G (p.Gly45=)
1g.154772373G=CA2481009337KCNN3c.1050C= (p.Gly350=)
c.111C= (p.Gly37=)
c.135C= (p.Gly45=)
1g.154772373G>TCA421286132KCNN3c.1050C>A (p.Gly350=)
c.111C>A (p.Gly37=)
c.135C>A (p.Gly45=)
1g.154772374C>ACA343067348KCNN3c.1049G>T (p.Gly350Val)
c.110G>T (p.Gly37Val)
c.134G>T (p.Gly45Val)
1g.154772374C=CA2481009338KCNN3c.1049G= (p.Gly350=)
c.110G= (p.Gly37=)
c.134G= (p.Gly45=)
1g.154772374C>GCA343067349KCNN3c.1049G>C (p.Gly350Ala)
c.110G>C (p.Gly37Ala)
c.134G>C (p.Gly45Ala)
1g.154772374C>TCA343067350KCNN3c.1049G>A (p.Gly350Asp)
c.110G>A (p.Gly37Asp)
c.134G>A (p.Gly45Asp)
 ClinVar dbSNP
1g.154772375C>ACA343067351KCNN3c.1048G>T (p.Gly350Cys)
c.109G>T (p.Gly37Cys)
c.133G>T (p.Gly45Cys)
 gnomAD v4
1g.154772375C=CA2481009339KCNN3c.1048G= (p.Gly350=)
c.109G= (p.Gly37=)
c.133G= (p.Gly45=)
1g.154772375C>GCA343067352KCNN3c.1048G>C (p.Gly350Arg)
c.109G>C (p.Gly37Arg)
c.133G>C (p.Gly45Arg)
1g.154772375C>TCA1132140KCNN3c.1048G>A (p.Gly350Ser)
c.109G>A (p.Gly37Ser)
c.133G>A (p.Gly45Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772376A=CA1139853293KCNN3c.1047T= (p.Asn349=)
c.108T= (p.Asn36=)
c.132T= (p.Asn44=)
1g.154772376A>CCA343067353KCNN3c.1047T>G (p.Asn349Lys)
c.108T>G (p.Asn36Lys)
c.132T>G (p.Asn44Lys)
1g.154772376A>GCA1132141KCNN3c.1047T>C (p.Asn349=)
c.108T>C (p.Asn36=)
c.132T>C (p.Asn44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772376A>TCA343067354KCNN3c.1047T>A (p.Asn349Lys)
c.108T>A (p.Asn36Lys)
c.132T>A (p.Asn44Lys)
1g.154772377T>ACA343067355KCNN3c.1046A>T (p.Asn349Ile)
c.107A>T (p.Asn36Ile)
c.131A>T (p.Asn44Ile)
1g.154772377T>CCA1132142KCNN3c.1046A>G (p.Asn349Ser)
c.107A>G (p.Asn36Ser)
c.131A>G (p.Asn44Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.154772377T>GCA343067356KCNN3c.1046A>C (p.Asn349Thr)
c.107A>C (p.Asn36Thr)
c.131A>C (p.Asn44Thr)
1g.154772377T=CA2481009340KCNN3c.1046A= (p.Asn349=)
c.107A= (p.Asn36=)
c.131A= (p.Asn44=)
1g.154772378T>ACA343067359KCNN3c.1045A>T (p.Asn349Tyr)
c.106A>T (p.Asn36Tyr)
c.130A>T (p.Asn44Tyr)
1g.154772378T>CCA343067358KCNN3c.1045A>G (p.Asn349Asp)
c.106A>G (p.Asn36Asp)
c.130A>G (p.Asn44Asp)
1g.154772378T>GCA343067357KCNN3c.1045A>C (p.Asn349His)
c.106A>C (p.Asn36His)
c.130A>C (p.Asn44His)
1g.154772379G>ACA421286136KCNN3c.1044C>T (p.Asp348=)
c.105C>T (p.Asp35=)
c.129C>T (p.Asp43=)
1g.154772379G>CCA343067360KCNN3c.1044C>G (p.Asp348Glu)
c.105C>G (p.Asp35Glu)
c.129C>G (p.Asp43Glu)
1g.154772379G>TCA343067361KCNN3c.1044C>A (p.Asp348Glu)
c.105C>A (p.Asp35Glu)
c.129C>A (p.Asp43Glu)
1g.154772380T>ACA343067362KCNN3c.1043A>T (p.Asp348Val)
c.104A>T (p.Asp35Val)
c.128A>T (p.Asp43Val)
1g.154772380T>CCA343067364KCNN3c.1043A>G (p.Asp348Gly)
c.104A>G (p.Asp35Gly)
c.128A>G (p.Asp43Gly)
1g.154772380T>GCA343067363KCNN3c.1043A>C (p.Asp348Ala)
c.104A>C (p.Asp35Ala)
c.128A>C (p.Asp43Ala)
1g.154772381C>ACA343067365KCNN3c.1042G>T (p.Asp348Tyr)
c.103G>T (p.Asp35Tyr)
c.127G>T (p.Asp43Tyr)
1g.154772381C=CA2481009341KCNN3c.1042G= (p.Asp348=)
c.103G= (p.Asp35=)
c.127G= (p.Asp43=)
1g.154772381C>GCA343067367KCNN3c.1042G>C (p.Asp348His)
c.103G>C (p.Asp35His)
c.127G>C (p.Asp43His)
1g.154772381C>TCA343067366KCNN3c.1042G>A (p.Asp348Asn)
c.103G>A (p.Asp35Asn)
c.127G>A (p.Asp43Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.154772382G>ACA1132143KCNN3c.1041C>T (p.Ile347=)
c.102C>T (p.Ile34=)
c.126C>T (p.Ile42=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154772382G>CCA343067368KCNN3c.1041C>G (p.Ile347Met)
c.102C>G (p.Ile34Met)
c.126C>G (p.Ile42Met)
1g.154772382G=CA2481009342KCNN3c.1041C= (p.Ile347=)
c.102C= (p.Ile34=)
c.126C= (p.Ile42=)
1g.154772382G>TCA421286137KCNN3c.1041C>A (p.Ile347=)
c.102C>A (p.Ile34=)
c.126C>A (p.Ile42=)
 dbSNP
1g.154772383A>CCA343067369KCNN3c.1040T>G (p.Ile347Ser)
c.101T>G (p.Ile34Ser)
c.125T>G (p.Ile42Ser)
1g.154772383A>GCA343067370KCNN3c.1040T>C (p.Ile347Thr)
c.101T>C (p.Ile34Thr)
c.125T>C (p.Ile42Thr)
1g.154772383A>TCA343067371KCNN3c.1040T>A (p.Ile347Asn)
c.101T>A (p.Ile34Asn)
c.125T>A (p.Ile42Asn)
1g.154772384T>ACA343067372KCNN3c.1039A>T (p.Ile347Phe)
c.100A>T (p.Ile34Phe)
c.124A>T (p.Ile42Phe)
1g.154772384T>CCA343067373KCNN3c.1039A>G (p.Ile347Val)
c.100A>G (p.Ile34Val)
c.124A>G (p.Ile42Val)
1g.154772384T>GCA343067374KCNN3c.1039A>C (p.Ile347Leu)
c.100A>C (p.Ile34Leu)
c.124A>C (p.Ile42Leu)
1g.154772385C>ACA421286141KCNN3c.1038G>T (p.Val346=)
c.99G>T (p.Val33=)
c.123G>T (p.Val41=)
1g.154772385C>GCA421286143KCNN3c.1038G>C (p.Val346=)
c.99G>C (p.Val33=)
c.123G>C (p.Val41=)
1g.154772385C>TCA421286142KCNN3c.1038G>A (p.Val346=)
c.99G>A (p.Val33=)
c.123G>A (p.Val41=)
1g.154772386A>CCA343067375KCNN3c.1037T>G (p.Val346Gly)
c.98T>G (p.Val33Gly)
c.122T>G (p.Val41Gly)
1g.154772386A>GCA343067376KCNN3c.1037T>C (p.Val346Ala)
c.98T>C (p.Val33Ala)
c.122T>C (p.Val41Ala)
 gnomAD v4
1g.154772386A>TCA343067377KCNN3c.1037T>A (p.Val346Glu)
c.98T>A (p.Val33Glu)
c.122T>A (p.Val41Glu)
1g.154772387C>ACA343067378KCNN3c.1036G>T (p.Val346Leu)
c.97G>T (p.Val33Leu)
c.121G>T (p.Val41Leu)
1g.154772387C=CA2481009343KCNN3c.1036G= (p.Val346=)
c.97G= (p.Val33=)
c.121G= (p.Val41=)
1g.154772387C>GCA343067379KCNN3c.1036G>C (p.Val346Leu)
c.97G>C (p.Val33Leu)
c.121G>C (p.Val41Leu)
 dbSNP
1g.154772387C>TCA343067380KCNN3c.1036G>A (p.Val346Met)
c.97G>A (p.Val33Met)
c.121G>A (p.Val41Met)
 dbSNP gnomAD v4
1g.154772388G>ACA1132144KCNN3c.1035C>T (p.Phe345=)
c.96C>T (p.Phe32=)
c.120C>T (p.Phe40=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154772388G>CCA343067382KCNN3c.1035C>G (p.Phe345Leu)
c.96C>G (p.Phe32Leu)
c.120C>G (p.Phe40Leu)
1g.154772388G=CA1141744110KCNN3c.1035C= (p.Phe345=)
c.96C= (p.Phe32=)
c.120C= (p.Phe40=)
1g.154772388G>TCA343067381KCNN3c.1035C>A (p.Phe345Leu)
c.96C>A (p.Phe32Leu)
c.120C>A (p.Phe40Leu)
1g.154772389A>CCA343067383KCNN3c.1034T>G (p.Phe345Cys)
c.95T>G (p.Phe32Cys)
c.119T>G (p.Phe40Cys)
1g.154772389A>GCA343067384KCNN3c.1034T>C (p.Phe345Ser)
c.95T>C (p.Phe32Ser)
c.119T>C (p.Phe40Ser)
1g.154772389A>TCA343067385KCNN3c.1034T>A (p.Phe345Tyr)
c.95T>A (p.Phe32Tyr)
c.119T>A (p.Phe40Tyr)

Number of alleles fetched