Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41981997G>A | CA406051126 | ATP1A3 | c.1142C>T (p.Thr381Ile) c.1103C>T (p.Thr368Ile) c.1136C>T (p.Thr379Ile) c.1013C>T (p.Thr338Ile) | ClinVar dbSNP |
19 | g.41981997G>C | CA406051128 | ATP1A3 | c.1142C>G (p.Thr381Arg) c.1103C>G (p.Thr368Arg) c.1136C>G (p.Thr379Arg) c.1013C>G (p.Thr338Arg) | ClinVar |
19 | g.41981997G= | CA2336726586 | ATP1A3 | c.1142C= (p.Thr381=) c.1103C= (p.Thr368=) c.1136C= (p.Thr379=) c.1013C= (p.Thr338=) | |
19 | g.41981997G>T | CA406051129 | ATP1A3 | c.1142C>A (p.Thr381Lys) c.1103C>A (p.Thr368Lys) c.1136C>A (p.Thr379Lys) c.1013C>A (p.Thr338Lys) | |
19 | g.41981998T>A | CA406051132 | ATP1A3 | c.1141A>T (p.Thr381Ser) c.1102A>T (p.Thr368Ser) c.1135A>T (p.Thr379Ser) c.1012A>T (p.Thr338Ser) | |
19 | g.41981998T>C | CA406051134 | ATP1A3 | c.1141A>G (p.Thr381Ala) c.1102A>G (p.Thr368Ala) c.1135A>G (p.Thr379Ala) c.1012A>G (p.Thr338Ala) | |
19 | g.41981998T>G | CA406051135 | ATP1A3 | c.1141A>C (p.Thr381Pro) c.1102A>C (p.Thr368Pro) c.1135A>C (p.Thr379Pro) c.1012A>C (p.Thr338Pro) | |
19 | g.41981999C>A | CA406051137 | ATP1A3 | c.1140G>T (p.Lys380Asn) c.1101G>T (p.Lys367Asn) c.1134G>T (p.Lys378Asn) c.1011G>T (p.Lys337Asn) | |
19 | g.41981999C= | CA2336726587 | ATP1A3 | c.1140G= (p.Lys380=) c.1101G= (p.Lys367=) c.1134G= (p.Lys378=) c.1011G= (p.Lys337=) | |
19 | g.41981999C>G | CA406051139 | ATP1A3 | c.1140G>C (p.Lys380Asn) c.1101G>C (p.Lys367Asn) c.1134G>C (p.Lys378Asn) c.1011G>C (p.Lys337Asn) | |
19 | g.41981999C>T | CA507695130 | ATP1A3 | c.1140G>A (p.Lys380=) c.1101G>A (p.Lys367=) c.1134G>A (p.Lys378=) c.1011G>A (p.Lys337=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41982000T>A | CA406051141 | ATP1A3 | c.1139A>T (p.Lys380Met) c.1100A>T (p.Lys367Met) c.1133A>T (p.Lys378Met) c.1010A>T (p.Lys337Met) | |
19 | g.41982000T>C | CA406051142 | ATP1A3 | c.1139A>G (p.Lys380Arg) c.1100A>G (p.Lys367Arg) c.1133A>G (p.Lys378Arg) c.1010A>G (p.Lys337Arg) | |
19 | g.41982000T>G | CA406051143 | ATP1A3 | c.1139A>C (p.Lys380Thr) c.1100A>C (p.Lys367Thr) c.1133A>C (p.Lys378Thr) c.1010A>C (p.Lys337Thr) | |
19 | g.41982001T>A | CA406051144 | ATP1A3 | c.1138A>T (p.Lys380Ter) c.1099A>T (p.Lys367Ter) c.1132A>T (p.Lys378Ter) c.1009A>T (p.Lys337Ter) | |
19 | g.41982001T>C | CA406051146 | ATP1A3 | c.1138A>G (p.Lys380Glu) c.1099A>G (p.Lys367Glu) c.1132A>G (p.Lys378Glu) c.1009A>G (p.Lys337Glu) | |
19 | g.41982001T>G | CA406051145 | ATP1A3 | c.1138A>C (p.Lys380Gln) c.1099A>C (p.Lys367Gln) c.1132A>C (p.Lys378Gln) c.1009A>C (p.Lys337Gln) | |
19 | g.41982002A>C | CA406051147 | ATP1A3 | c.1137T>G (p.Asp379Glu) c.1098T>G (p.Asp366Glu) c.1131T>G (p.Asp377Glu) c.1008T>G (p.Asp336Glu) | |
19 | g.41982002A>G | CA507695033 | ATP1A3 | c.1137T>C (p.Asp379=) c.1098T>C (p.Asp366=) c.1131T>C (p.Asp377=) c.1008T>C (p.Asp336=) | dbSNP |
19 | g.41982002A>T | CA406051148 | ATP1A3 | c.1137T>A (p.Asp379Glu) c.1098T>A (p.Asp366Glu) c.1131T>A (p.Asp377Glu) c.1008T>A (p.Asp336Glu) | |
19 | g.41982003T>A | CA406051150 | ATP1A3 | c.1136A>T (p.Asp379Val) c.1097A>T (p.Asp366Val) c.1130A>T (p.Asp377Val) c.1007A>T (p.Asp336Val) | |
19 | g.41982003T>C | CA406051151 | ATP1A3 | c.1136A>G (p.Asp379Gly) c.1097A>G (p.Asp366Gly) c.1130A>G (p.Asp377Gly) c.1007A>G (p.Asp336Gly) | |
19 | g.41982003T>G | CA406051153 | ATP1A3 | c.1136A>C (p.Asp379Ala) c.1097A>C (p.Asp366Ala) c.1130A>C (p.Asp377Ala) c.1007A>C (p.Asp336Ala) | |
19 | g.41982004C>A | CA406051155 | ATP1A3 | c.1135G>T (p.Asp379Tyr) c.1096G>T (p.Asp366Tyr) c.1129G>T (p.Asp377Tyr) c.1006G>T (p.Asp336Tyr) | |
19 | g.41982004C>G | CA406051157 | ATP1A3 | c.1135G>C (p.Asp379His) c.1096G>C (p.Asp366His) c.1129G>C (p.Asp377His) c.1006G>C (p.Asp336His) | |
19 | g.41982004C>T | CA406051159 | ATP1A3 | c.1135G>A (p.Asp379Asn) c.1096G>A (p.Asp366Asn) c.1129G>A (p.Asp377Asn) c.1006G>A (p.Asp336Asn) | ClinVar dbSNP |
19 | g.41982005T>A | CA507695038 | ATP1A3 | c.1134A>T (p.Ser378=) c.1095A>T (p.Ser365=) c.1128A>T (p.Ser376=) c.1005A>T (p.Ser335=) | |
19 | g.41982005T>C | CA507695040 | ATP1A3 | c.1134A>G (p.Ser378=) c.1095A>G (p.Ser365=) c.1128A>G (p.Ser376=) c.1005A>G (p.Ser335=) | |
19 | g.41982005T>G | CA507695039 | ATP1A3 | c.1134A>C (p.Ser378=) c.1095A>C (p.Ser365=) c.1128A>C (p.Ser376=) c.1005A>C (p.Ser335=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41982005T= | CA2336726588 | ATP1A3 | c.1134A= (p.Ser378=) c.1095A= (p.Ser365=) c.1128A= (p.Ser376=) c.1005A= (p.Ser335=) | |
19 | g.41982006G>A | CA406051161 | ATP1A3 | c.1133C>T (p.Ser378Leu) c.1094C>T (p.Ser365Leu) c.1127C>T (p.Ser376Leu) c.1004C>T (p.Ser335Leu) | |
19 | g.41982006G>C | CA406051163 | ATP1A3 | c.1133C>G (p.Ser378Ter) c.1094C>G (p.Ser365Ter) c.1127C>G (p.Ser376Ter) c.1004C>G (p.Ser335Ter) | |
19 | g.41982006G>T | CA406051164 | ATP1A3 | c.1133C>A (p.Ser378Ter) c.1094C>A (p.Ser365Ter) c.1127C>A (p.Ser376Ter) c.1004C>A (p.Ser335Ter) | |
19 | g.41982007A>C | CA406051170 | ATP1A3 | c.1132T>G (p.Ser378Ala) c.1093T>G (p.Ser365Ala) c.1126T>G (p.Ser376Ala) c.1003T>G (p.Ser335Ala) | |
19 | g.41982007A>G | CA406051168 | ATP1A3 | c.1132T>C (p.Ser378Pro) c.1093T>C (p.Ser365Pro) c.1126T>C (p.Ser376Pro) c.1003T>C (p.Ser335Pro) | |
19 | g.41982007A>T | CA406051167 | ATP1A3 | c.1132T>A (p.Ser378Thr) c.1093T>A (p.Ser365Thr) c.1126T>A (p.Ser376Thr) c.1003T>A (p.Ser335Thr) | |
19 | g.41982008G>A | CA507695043 | ATP1A3 | c.1131C>T (p.Cys377=) c.1092C>T (p.Cys364=) c.1125C>T (p.Cys375=) c.1002C>T (p.Cys334=) | |
19 | g.41982008G>C | CA406051172 | ATP1A3 | c.1131C>G (p.Cys377Trp) c.1092C>G (p.Cys364Trp) c.1125C>G (p.Cys375Trp) c.1002C>G (p.Cys334Trp) | |
19 | g.41982008G>T | CA406051174 | ATP1A3 | c.1131C>A (p.Cys377Ter) c.1092C>A (p.Cys364Ter) c.1125C>A (p.Cys375Ter) c.1002C>A (p.Cys334Ter) | |
19 | g.41982009C>A | CA406051176 | ATP1A3 | c.1130G>T (p.Cys377Phe) c.1091G>T (p.Cys364Phe) c.1124G>T (p.Cys375Phe) c.1001G>T (p.Cys334Phe) | |
19 | g.41982009C>G | CA406051177 | ATP1A3 | c.1130G>C (p.Cys377Ser) c.1091G>C (p.Cys364Ser) c.1124G>C (p.Cys375Ser) c.1001G>C (p.Cys334Ser) | |
19 | g.41982009C>T | CA406051179 | ATP1A3 | c.1130G>A (p.Cys377Tyr) c.1091G>A (p.Cys364Tyr) c.1124G>A (p.Cys375Tyr) c.1001G>A (p.Cys334Tyr) | |
19 | g.41982010A= | CA2336726589 | ATP1A3 | c.1129T= (p.Cys377=) c.1090T= (p.Cys364=) c.1123T= (p.Cys375=) c.1000T= (p.Cys334=) | |
19 | g.41982010A>C | CA406051181 | ATP1A3 | c.1129T>G (p.Cys377Gly) c.1090T>G (p.Cys364Gly) c.1123T>G (p.Cys375Gly) c.1000T>G (p.Cys334Gly) | |
19 | g.41982010A>G | CA406051182 | ATP1A3 | c.1129T>C (p.Cys377Arg) c.1090T>C (p.Cys364Arg) c.1123T>C (p.Cys375Arg) c.1000T>C (p.Cys334Arg) | ClinVar dbSNP |
19 | g.41982010A>T | CA406051184 | ATP1A3 | c.1129T>A (p.Cys377Ser) c.1090T>A (p.Cys364Ser) c.1123T>A (p.Cys375Ser) c.1000T>A (p.Cys334Ser) | |
19 | g.41982011G>A | CA507695047 | ATP1A3 | c.1128C>T (p.Ile376=) c.1089C>T (p.Ile363=) c.1122C>T (p.Ile374=) c.999C>T (p.Ile333=) | |
19 | g.41982011G>C | CA406051188 | ATP1A3 | c.1128C>G (p.Ile376Met) c.1089C>G (p.Ile363Met) c.1122C>G (p.Ile374Met) c.999C>G (p.Ile333Met) | |
19 | g.41982011G>T | CA507695049 | ATP1A3 | c.1128C>A (p.Ile376=) c.1089C>A (p.Ile363=) c.1122C>A (p.Ile374=) c.999C>A (p.Ile333=) | |
19 | g.41982012A>C | CA406051190 | ATP1A3 | c.1127T>G (p.Ile376Ser) c.1088T>G (p.Ile363Ser) c.1121T>G (p.Ile374Ser) c.998T>G (p.Ile333Ser) | |
19 | g.41982012A>G | CA406051192 | ATP1A3 | c.1127T>C (p.Ile376Thr) c.1088T>C (p.Ile363Thr) c.1121T>C (p.Ile374Thr) c.998T>C (p.Ile333Thr) | ClinVar dbSNP |
19 | g.41982012A>T | CA406051194 | ATP1A3 | c.1127T>A (p.Ile376Asn) c.1088T>A (p.Ile363Asn) c.1121T>A (p.Ile374Asn) c.998T>A (p.Ile333Asn) | ClinVar dbSNP |
19 | g.41982013T>A | CA406051198 | ATP1A3 | c.1126A>T (p.Ile376Phe) c.1087A>T (p.Ile363Phe) c.1120A>T (p.Ile374Phe) c.997A>T (p.Ile333Phe) | |
19 | g.41982013T>C | CA406051197 | ATP1A3 | c.1126A>G (p.Ile376Val) c.1087A>G (p.Ile363Val) c.1120A>G (p.Ile374Val) c.997A>G (p.Ile333Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41982013T>G | CA406051196 | ATP1A3 | c.1126A>C (p.Ile376Leu) c.1087A>C (p.Ile363Leu) c.1120A>C (p.Ile374Leu) c.997A>C (p.Ile333Leu) | |
19 | g.41982013T= | CA2336726590 | ATP1A3 | c.1126A= (p.Ile376=) c.1087A= (p.Ile363=) c.1120A= (p.Ile374=) c.997A= (p.Ile333=) | |
19 | g.41982014G>A | CA9467720 | ATP1A3 | c.1125C>T (p.Thr375=) c.1086C>T (p.Thr362=) c.1119C>T (p.Thr373=) c.996C>T (p.Thr332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41982014G>C | CA507695051 | ATP1A3 | c.1125C>G (p.Thr375=) c.1086C>G (p.Thr362=) c.1119C>G (p.Thr373=) c.996C>G (p.Thr332=) | |
19 | g.41982014G= | CA2336726591 | ATP1A3 | c.1125C= (p.Thr375=) c.1086C= (p.Thr362=) c.1119C= (p.Thr373=) c.996C= (p.Thr332=) | |
19 | g.41982014G>T | CA507695050 | ATP1A3 | c.1125C>A (p.Thr375=) c.1086C>A (p.Thr362=) c.1119C>A (p.Thr373=) c.996C>A (p.Thr332=) | |
19 | g.41982015G>A | CA406051200 | ATP1A3 | c.1124C>T (p.Thr375Ile) c.1085C>T (p.Thr362Ile) c.1118C>T (p.Thr373Ile) c.995C>T (p.Thr332Ile) | |
19 | g.41982015G>C | CA406051203 | ATP1A3 | c.1124C>G (p.Thr375Ser) c.1085C>G (p.Thr362Ser) c.1118C>G (p.Thr373Ser) c.995C>G (p.Thr332Ser) | gnomAD v4 |
19 | g.41982015G>T | CA406051201 | ATP1A3 | c.1124C>A (p.Thr375Asn) c.1085C>A (p.Thr362Asn) c.1118C>A (p.Thr373Asn) c.995C>A (p.Thr332Asn) | |
19 | g.41982016T>A | CA406051205 | ATP1A3 | c.1123A>T (p.Thr375Ser) c.1084A>T (p.Thr362Ser) c.1117A>T (p.Thr373Ser) c.994A>T (p.Thr332Ser) | |
19 | g.41982016T>C | CA406051207 | ATP1A3 | c.1123A>G (p.Thr375Ala) c.1084A>G (p.Thr362Ala) c.1117A>G (p.Thr373Ala) c.994A>G (p.Thr332Ala) | |
19 | g.41982016T>G | CA406051209 | ATP1A3 | c.1123A>C (p.Thr375Pro) c.1084A>C (p.Thr362Pro) c.1117A>C (p.Thr373Pro) c.994A>C (p.Thr332Pro) | |
19 | g.41982017G>A | CA507695054 | ATP1A3 | c.1122C>T (p.Ser374=) c.1083C>T (p.Ser361=) c.1116C>T (p.Ser372=) c.993C>T (p.Ser331=) | |
19 | g.41982017G>C | CA507695055 | ATP1A3 | c.1122C>G (p.Ser374=) c.1083C>G (p.Ser361=) c.1116C>G (p.Ser372=) c.993C>G (p.Ser331=) | dbSNP |
19 | g.41982017G= | CA2336726592 | ATP1A3 | c.1122C= (p.Ser374=) c.1083C= (p.Ser361=) c.1116C= (p.Ser372=) c.993C= (p.Ser331=) | |
19 | g.41982017G>T | CA507695056 | ATP1A3 | c.1122C>A (p.Ser374=) c.1083C>A (p.Ser361=) c.1116C>A (p.Ser372=) c.993C>A (p.Ser331=) | |
19 | g.41982018G>A | CA406051211 | ATP1A3 | c.1121C>T (p.Ser374Phe) c.1082C>T (p.Ser361Phe) c.1115C>T (p.Ser372Phe) c.992C>T (p.Ser331Phe) | |
19 | g.41982018G>C | CA406051213 | ATP1A3 | c.1121C>G (p.Ser374Cys) c.1082C>G (p.Ser361Cys) c.1115C>G (p.Ser372Cys) c.992C>G (p.Ser331Cys) | |
19 | g.41982018G>T | CA406051215 | ATP1A3 | c.1121C>A (p.Ser374Tyr) c.1082C>A (p.Ser361Tyr) c.1115C>A (p.Ser372Tyr) c.992C>A (p.Ser331Tyr) | |
19 | g.41982019A>C | CA406051223 | ATP1A3 | c.1120T>G (p.Ser374Ala) c.1081T>G (p.Ser361Ala) c.1114T>G (p.Ser372Ala) c.991T>G (p.Ser331Ala) | |
19 | g.41982019A>G | CA406051224 | ATP1A3 | c.1120T>C (p.Ser374Pro) c.1081T>C (p.Ser361Pro) c.1114T>C (p.Ser372Pro) c.991T>C (p.Ser331Pro) | ClinVar dbSNP |
19 | g.41982019A>T | CA406051228 | ATP1A3 | c.1120T>A (p.Ser374Thr) c.1081T>A (p.Ser361Thr) c.1114T>A (p.Ser372Thr) c.991T>A (p.Ser331Thr) | |
19 | g.41982020C>A | CA507695061 | ATP1A3 | c.1119G>T (p.Thr373=) c.1080G>T (p.Thr360=) c.1113G>T (p.Thr371=) c.990G>T (p.Thr330=) | |
19 | g.41982020C= | CA2336726593 | ATP1A3 | c.1119G= (p.Thr373=) c.1080G= (p.Thr360=) c.1113G= (p.Thr371=) c.990G= (p.Thr330=) | |
19 | g.41982020C>G | CA507695062 | ATP1A3 | c.1119G>C (p.Thr373=) c.1080G>C (p.Thr360=) c.1113G>C (p.Thr371=) c.990G>C (p.Thr330=) | |
19 | g.41982020C>T | CA9467721 | ATP1A3 | c.1119G>A (p.Thr373=) c.1080G>A (p.Thr360=) c.1113G>A (p.Thr371=) c.990G>A (p.Thr330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41982021G>A | CA406051248 | ATP1A3 | c.1118C>T (p.Thr373Met) c.1079C>T (p.Thr360Met) c.1112C>T (p.Thr371Met) c.989C>T (p.Thr330Met) | |
19 | g.41982021G>C | CA406051236 | ATP1A3 | c.1118C>G (p.Thr373Arg) c.1079C>G (p.Thr360Arg) c.1112C>G (p.Thr371Arg) c.989C>G (p.Thr330Arg) | ClinVar |
19 | g.41982021G>T | CA406051233 | ATP1A3 | c.1118C>A (p.Thr373Lys) c.1079C>A (p.Thr360Lys) c.1112C>A (p.Thr371Lys) c.989C>A (p.Thr330Lys) | |
19 | g.41982022T>A | CA406051255 | ATP1A3 | c.1117A>T (p.Thr373Ser) c.1078A>T (p.Thr360Ser) c.1111A>T (p.Thr371Ser) c.988A>T (p.Thr330Ser) | |
19 | g.41982022T>C | CA406051256 | ATP1A3 | c.1117A>G (p.Thr373Ala) c.1078A>G (p.Thr360Ala) c.1111A>G (p.Thr371Ala) c.988A>G (p.Thr330Ala) | |
19 | g.41982022T>G | CA406051259 | ATP1A3 | c.1117A>C (p.Thr373Pro) c.1078A>C (p.Thr360Pro) c.1111A>C (p.Thr371Pro) c.988A>C (p.Thr330Pro) | |
19 | g.41982023G>A | CA507695064 | ATP1A3 | c.1116C>T (p.Ser372=) c.1077C>T (p.Ser359=) c.1110C>T (p.Ser370=) c.987C>T (p.Ser329=) | gnomAD v4 |
19 | g.41982023G>C | CA507695066 | ATP1A3 | c.1116C>G (p.Ser372=) c.1077C>G (p.Ser359=) c.1110C>G (p.Ser370=) c.987C>G (p.Ser329=) | |
19 | g.41982023G>T | CA507695069 | ATP1A3 | c.1116C>A (p.Ser372=) c.1077C>A (p.Ser359=) c.1110C>A (p.Ser370=) c.987C>A (p.Ser329=) | |
19 | g.41982024G>A | CA406051262 | ATP1A3 | c.1115C>T (p.Ser372Phe) c.1076C>T (p.Ser359Phe) c.1109C>T (p.Ser370Phe) c.986C>T (p.Ser329Phe) | |
19 | g.41982024G>C | CA406051265 | ATP1A3 | c.1115C>G (p.Ser372Cys) c.1076C>G (p.Ser359Cys) c.1109C>G (p.Ser370Cys) c.986C>G (p.Ser329Cys) | |
19 | g.41982024G= | CA2336726594 | ATP1A3 | c.1115C= (p.Ser372=) c.1076C= (p.Ser359=) c.1109C= (p.Ser370=) c.986C= (p.Ser329=) | |
19 | g.41982024G>T | CA406051266 | ATP1A3 | c.1115C>A (p.Ser372Tyr) c.1076C>A (p.Ser359Tyr) c.1109C>A (p.Ser370Tyr) c.986C>A (p.Ser329Tyr) | ClinVar dbSNP |
19 | g.41982025A>C | CA406051270 | ATP1A3 | c.1114T>G (p.Ser372Ala) c.1075T>G (p.Ser359Ala) c.1108T>G (p.Ser370Ala) c.985T>G (p.Ser329Ala) | |
19 | g.41982025A>G | CA406051272 | ATP1A3 | c.1114T>C (p.Ser372Pro) c.1075T>C (p.Ser359Pro) c.1108T>C (p.Ser370Pro) c.985T>C (p.Ser329Pro) | |
19 | g.41982025A>T | CA406051275 | ATP1A3 | c.1114T>A (p.Ser372Thr) c.1075T>A (p.Ser359Thr) c.1108T>A (p.Ser370Thr) c.985T>A (p.Ser329Thr) | |
19 | g.41982026G>A | CA507695074 | ATP1A3 | c.1113C>T (p.Gly371=) c.1074C>T (p.Gly358=) c.1107C>T (p.Gly369=) c.984C>T (p.Gly328=) | dbSNP |
19 | g.41982026G>C | CA507695076 | ATP1A3 | c.1113C>G (p.Gly371=) c.1074C>G (p.Gly358=) c.1107C>G (p.Gly369=) c.984C>G (p.Gly328=) | |
19 | g.41982026G= | CA2336726595 | ATP1A3 | c.1113C= (p.Gly371=) c.1074C= (p.Gly358=) c.1107C= (p.Gly369=) c.984C= (p.Gly328=) | |
19 | g.41982026G>T | CA507695078 | ATP1A3 | c.1113C>A (p.Gly371=) c.1074C>A (p.Gly358=) c.1107C>A (p.Gly369=) c.984C>A (p.Gly328=) | |
19 | g.41982027C>A | CA406051278 | ATP1A3 | c.1112G>T (p.Gly371Val) c.1073G>T (p.Gly358Val) c.1106G>T (p.Gly369Val) c.983G>T (p.Gly328Val) | ClinVar dbSNP |
19 | g.41982027C= | CA2336726596 | ATP1A3 | c.1112G= (p.Gly371=) c.1073G= (p.Gly358=) c.1106G= (p.Gly369=) c.983G= (p.Gly328=) | |
19 | g.41982027C>G | CA406051283 | ATP1A3 | c.1112G>C (p.Gly371Ala) c.1073G>C (p.Gly358Ala) c.1106G>C (p.Gly369Ala) c.983G>C (p.Gly328Ala) | ClinVar dbSNP |
19 | g.41982027C>T | CA406051286 | ATP1A3 | c.1112G>A (p.Gly371Asp) c.1073G>A (p.Gly358Asp) c.1106G>A (p.Gly369Asp) c.983G>A (p.Gly328Asp) | ClinVar dbSNP |
19 | g.41982028C>A | CA346007 | ATP1A3 | c.1111G>T (p.Gly371Cys) c.1072G>T (p.Gly358Cys) c.1105G>T (p.Gly369Cys) c.982G>T (p.Gly328Cys) | ClinVar dbSNP |
19 | g.41982028C= | CA2336726597 | ATP1A3 | c.1111G= (p.Gly371=) c.1072G= (p.Gly358=) c.1105G= (p.Gly369=) c.982G= (p.Gly328=) | |
19 | g.41982028C>G | CA406051293 | ATP1A3 | c.1111G>C (p.Gly371Arg) c.1072G>C (p.Gly358Arg) c.1105G>C (p.Gly369Arg) c.982G>C (p.Gly328Arg) | ClinVar dbSNP |
19 | g.41982028C>T | CA406051289 | ATP1A3 | c.1111G>A (p.Gly371Ser) c.1072G>A (p.Gly358Ser) c.1105G>A (p.Gly369Ser) c.982G>A (p.Gly328Ser) | ClinVar dbSNP |
19 | g.41982029C>A | CA507695081 | ATP1A3 | c.1110G>T (p.Leu370=) c.1071G>T (p.Leu357=) c.1104G>T (p.Leu368=) c.981G>T (p.Leu327=) | |
19 | g.41982029C= | CA2336726598 | ATP1A3 | c.1110G= (p.Leu370=) c.1071G= (p.Leu357=) c.1104G= (p.Leu368=) c.981G= (p.Leu327=) | |
19 | g.41982029C>G | CA507695082 | ATP1A3 | c.1110G>C (p.Leu370=) c.1071G>C (p.Leu357=) c.1104G>C (p.Leu368=) c.981G>C (p.Leu327=) | |
19 | g.41982029C>T | CA507695083 | ATP1A3 | c.1110G>A (p.Leu370=) c.1071G>A (p.Leu357=) c.1104G>A (p.Leu368=) c.981G>A (p.Leu327=) | ClinVar dbSNP |
19 | g.41982030A>C | CA406051297 | ATP1A3 | c.1109T>G (p.Leu370Arg) c.1070T>G (p.Leu357Arg) c.1103T>G (p.Leu368Arg) c.980T>G (p.Leu327Arg) | |
19 | g.41982030A>G | CA406051299 | ATP1A3 | c.1109T>C (p.Leu370Pro) c.1070T>C (p.Leu357Pro) c.1103T>C (p.Leu368Pro) c.980T>C (p.Leu327Pro) | |
19 | g.41982030A>T | CA406051304 | ATP1A3 | c.1109T>A (p.Leu370Gln) c.1070T>A (p.Leu357Gln) c.1103T>A (p.Leu368Gln) c.980T>A (p.Leu327Gln) | |
19 | g.41982031G>A | CA507695084 | ATP1A3 | c.1108C>T (p.Leu370=) c.1069C>T (p.Leu357=) c.1102C>T (p.Leu368=) c.979C>T (p.Leu327=) | dbSNP |
19 | g.41982031G>C | CA406051306 | ATP1A3 | c.1108C>G (p.Leu370Val) c.1069C>G (p.Leu357Val) c.1102C>G (p.Leu368Val) c.979C>G (p.Leu327Val) | |
19 | g.41982031G= | CA2336726599 | ATP1A3 | c.1108C= (p.Leu370=) c.1069C= (p.Leu357=) c.1102C= (p.Leu368=) c.979C= (p.Leu327=) | |
19 | g.41982031G>T | CA406051308 | ATP1A3 | c.1108C>A (p.Leu370Met) c.1069C>A (p.Leu357Met) c.1102C>A (p.Leu368Met) c.979C>A (p.Leu327Met) | gnomAD v4 |
19 | g.41982032G>A | CA507695085 | ATP1A3 | c.1107C>T (p.Thr369=) c.1068C>T (p.Thr356=) c.1101C>T (p.Thr367=) c.978C>T (p.Thr326=) | gnomAD v4 COSMIC |
19 | g.41982032G>C | CA507695087 | ATP1A3 | c.1107C>G (p.Thr369=) c.1068C>G (p.Thr356=) c.1101C>G (p.Thr367=) c.978C>G (p.Thr326=) | dbSNP |
19 | g.41982032G= | CA2336726600 | ATP1A3 | c.1107C= (p.Thr369=) c.1068C= (p.Thr356=) c.1101C= (p.Thr367=) c.978C= (p.Thr326=) | |
19 | g.41982032G>T | CA507695089 | ATP1A3 | c.1107C>A (p.Thr369=) c.1068C>A (p.Thr356=) c.1101C>A (p.Thr367=) c.978C>A (p.Thr326=) | |
19 | g.41982033G>A | CA406051320 | ATP1A3 | c.1106C>T (p.Thr369Ile) c.1067C>T (p.Thr356Ile) c.1100C>T (p.Thr367Ile) c.977C>T (p.Thr326Ile) | |
19 | g.41982033G>C | CA406051314 | ATP1A3 | c.1106C>G (p.Thr369Ser) c.1067C>G (p.Thr356Ser) c.1100C>G (p.Thr367Ser) c.977C>G (p.Thr326Ser) | |
19 | g.41982033G>T | CA406051312 | ATP1A3 | c.1106C>A (p.Thr369Asn) c.1067C>A (p.Thr356Asn) c.1100C>A (p.Thr367Asn) c.977C>A (p.Thr326Asn) | |
19 | g.41982034T>A | CA406051321 | ATP1A3 | c.1105A>T (p.Thr369Ser) c.1066A>T (p.Thr356Ser) c.1099A>T (p.Thr367Ser) c.976A>T (p.Thr326Ser) | |
19 | g.41982034T>C | CA406051323 | ATP1A3 | c.1105A>G (p.Thr369Ala) c.1066A>G (p.Thr356Ala) c.1099A>G (p.Thr367Ala) c.976A>G (p.Thr326Ala) | |
19 | g.41982034T>G | CA406051326 | ATP1A3 | c.1105A>C (p.Thr369Pro) c.1066A>C (p.Thr356Pro) c.1099A>C (p.Thr367Pro) c.976A>C (p.Thr326Pro) | |
19 | g.41982035T>A | CA406051330 | ATP1A3 | c.1104A>T (p.Glu368Asp) c.1065A>T (p.Glu355Asp) c.1098A>T (p.Glu366Asp) c.975A>T (p.Glu325Asp) | |
19 | g.41982035T>C | CA308595886 | ATP1A3 | c.1104A>G (p.Glu368=) c.1065A>G (p.Glu355=) c.1098A>G (p.Glu366=) c.975A>G (p.Glu325=) | dbSNP |
19 | g.41982035T>G | CA406051335 | ATP1A3 | c.1104A>C (p.Glu368Asp) c.1065A>C (p.Glu355Asp) c.1098A>C (p.Glu366Asp) c.975A>C (p.Glu325Asp) | |
19 | g.41982035T= | CA2336726601 | ATP1A3 | c.1104A= (p.Glu368=) c.1065A= (p.Glu355=) c.1098A= (p.Glu366=) c.975A= (p.Glu325=) | |
19 | g.41982036_41982038del | CA2695228876 | ATP1A3 | c.1102_1104del (p.Glu368del) c.1063_1065del (p.Glu355del) c.1096_1098del (p.Glu366del) c.973_975del (p.Glu325del) | |
19 | g.41982036T>A | CA406051339 | ATP1A3 | c.1103A>T (p.Glu368Val) c.1064A>T (p.Glu355Val) c.1097A>T (p.Glu366Val) c.974A>T (p.Glu325Val) | |
19 | g.41982036T>C | CA406051345 | ATP1A3 | c.1103A>G (p.Glu368Gly) c.1064A>G (p.Glu355Gly) c.1097A>G (p.Glu366Gly) c.974A>G (p.Glu325Gly) | |
19 | g.41982036T>G | CA406051341 | ATP1A3 | c.1103A>C (p.Glu368Ala) c.1064A>C (p.Glu355Ala) c.1097A>C (p.Glu366Ala) c.974A>C (p.Glu325Ala) | |
19 | g.41982037C>A | CA406051347 | ATP1A3 | c.1102G>T (p.Glu368Ter) c.1063G>T (p.Glu355Ter) c.1096G>T (p.Glu366Ter) c.973G>T (p.Glu325Ter) | |
19 | g.41982037C>G | CA406051350 | ATP1A3 | c.1102G>C (p.Glu368Gln) c.1063G>C (p.Glu355Gln) c.1096G>C (p.Glu366Gln) c.973G>C (p.Glu325Gln) | |
19 | g.41982037C>T | CA406051352 | ATP1A3 | c.1102G>A (p.Glu368Lys) c.1063G>A (p.Glu355Lys) c.1096G>A (p.Glu366Lys) c.973G>A (p.Glu325Lys) | |
19 | g.41982038T>A | CA507695093 | ATP1A3 | c.1101A>T (p.Val367=) c.1062A>T (p.Val354=) c.1095A>T (p.Val365=) c.972A>T (p.Val324=) | |
19 | g.41982038T>C | CA507695094 | ATP1A3 | c.1101A>G (p.Val367=) c.1062A>G (p.Val354=) c.1095A>G (p.Val365=) c.972A>G (p.Val324=) | |
19 | g.41982038T>G | CA507695095 | ATP1A3 | c.1101A>C (p.Val367=) c.1062A>C (p.Val354=) c.1095A>C (p.Val365=) c.972A>C (p.Val324=) | |
19 | g.41982039A>C | CA406051357 | ATP1A3 | c.1100T>G (p.Val367Gly) c.1061T>G (p.Val354Gly) c.1094T>G (p.Val365Gly) c.971T>G (p.Val324Gly) | |
19 | g.41982039A>G | CA406051360 | ATP1A3 | c.1100T>C (p.Val367Ala) c.1061T>C (p.Val354Ala) c.1094T>C (p.Val365Ala) c.971T>C (p.Val324Ala) | |
19 | g.41982039A>T | CA406051362 | ATP1A3 | c.1100T>A (p.Val367Glu) c.1061T>A (p.Val354Glu) c.1094T>A (p.Val365Glu) c.971T>A (p.Val324Glu) | |
19 | g.41982040C>A | CA406051367 | ATP1A3 | c.1099G>T (p.Val367Leu) c.1060G>T (p.Val354Leu) c.1093G>T (p.Val365Leu) c.970G>T (p.Val324Leu) | |
19 | g.41982040C>G | CA406051369 | ATP1A3 | c.1099G>C (p.Val367Leu) c.1060G>C (p.Val354Leu) c.1093G>C (p.Val365Leu) c.970G>C (p.Val324Leu) | |
19 | g.41982040C>T | CA406051371 | ATP1A3 | c.1099G>A (p.Val367Ile) c.1060G>A (p.Val354Ile) c.1093G>A (p.Val365Ile) c.970G>A (p.Val324Ile) | |
19 | g.41982041del | CA2576797187 | ATP1A3 | c.1098del (p.Val367Ter) c.1059del (p.Val354Ter) c.1092del (p.Val365Ter) c.969del (p.Val324Ter) | |
19 | g.41982041A>C | CA507695098 | ATP1A3 | c.1098T>G (p.Ala366=) c.1059T>G (p.Ala353=) c.1092T>G (p.Ala364=) c.969T>G (p.Ala323=) | |
19 | g.41982041A>G | CA507695099 | ATP1A3 | c.1098T>C (p.Ala366=) c.1059T>C (p.Ala353=) c.1092T>C (p.Ala364=) c.969T>C (p.Ala323=) | |
19 | g.41982041A>T | CA507695100 | ATP1A3 | c.1098T>A (p.Ala366=) c.1059T>A (p.Ala353=) c.1092T>A (p.Ala364=) c.969T>A (p.Ala323=) | |
19 | g.41982042G>A | CA406051372 | ATP1A3 | c.1097C>T (p.Ala366Val) c.1058C>T (p.Ala353Val) c.1091C>T (p.Ala364Val) c.968C>T (p.Ala323Val) | |
19 | g.41982042G>C | CA406051374 | ATP1A3 | c.1097C>G (p.Ala366Gly) c.1058C>G (p.Ala353Gly) c.1091C>G (p.Ala364Gly) c.968C>G (p.Ala323Gly) | |
19 | g.41982042G>T | CA406051377 | ATP1A3 | c.1097C>A (p.Ala366Asp) c.1058C>A (p.Ala353Asp) c.1091C>A (p.Ala364Asp) c.968C>A (p.Ala323Asp) | |
19 | g.41982043C>A | CA406051382 | ATP1A3 | c.1096G>T (p.Ala366Ser) c.1057G>T (p.Ala353Ser) c.1090G>T (p.Ala364Ser) c.967G>T (p.Ala323Ser) | |
19 | g.41982043C>G | CA406051383 | ATP1A3 | c.1096G>C (p.Ala366Pro) c.1057G>C (p.Ala353Pro) c.1090G>C (p.Ala364Pro) c.967G>C (p.Ala323Pro) | |
19 | g.41982043C>T | CA406051379 | ATP1A3 | c.1096G>A (p.Ala366Thr) c.1057G>A (p.Ala353Thr) c.1090G>A (p.Ala364Thr) c.967G>A (p.Ala323Thr) | |
19 | g.41982044C>A | CA406051388 | ATP1A3 | c.1095G>T (p.Glu365Asp) c.1056G>T (p.Glu352Asp) c.1089G>T (p.Glu363Asp) c.966G>T (p.Glu322Asp) | |
19 | g.41982044C>G | CA406051399 | ATP1A3 | c.1095G>C (p.Glu365Asp) c.1056G>C (p.Glu352Asp) c.1089G>C (p.Glu363Asp) c.966G>C (p.Glu322Asp) | |
19 | g.41982044C>T | CA507695105 | ATP1A3 | c.1095G>A (p.Glu365=) c.1056G>A (p.Glu352=) c.1089G>A (p.Glu363=) c.966G>A (p.Glu322=) | |
19 | g.41982045T>A | CA406051403 | ATP1A3 | c.1094A>T (p.Glu365Val) c.1055A>T (p.Glu352Val) c.1088A>T (p.Glu363Val) c.965A>T (p.Glu322Val) | |
19 | g.41982045T>C | CA406051407 | ATP1A3 | c.1094A>G (p.Glu365Gly) c.1055A>G (p.Glu352Gly) c.1088A>G (p.Glu363Gly) c.965A>G (p.Glu322Gly) | |
19 | g.41982045T>G | CA406051405 | ATP1A3 | c.1094A>C (p.Glu365Ala) c.1055A>C (p.Glu352Ala) c.1088A>C (p.Glu363Ala) c.965A>C (p.Glu322Ala) | |
19 | g.41982046C>A | CA406051409 | ATP1A3 | c.1093G>T (p.Glu365Ter) c.1054G>T (p.Glu352Ter) c.1087G>T (p.Glu363Ter) c.964G>T (p.Glu322Ter) | |
19 | g.41982046C>G | CA406051412 | ATP1A3 | c.1093G>C (p.Glu365Gln) c.1054G>C (p.Glu352Gln) c.1087G>C (p.Glu363Gln) c.964G>C (p.Glu322Gln) | |
19 | g.41982046C>T | CA406051416 | ATP1A3 | c.1093G>A (p.Glu365Lys) c.1054G>A (p.Glu352Lys) c.1087G>A (p.Glu363Lys) c.964G>A (p.Glu322Lys) | |
19 | g.41982046_41982052delinsCCAGGTT | CA2336726602 | ATP1A3 | c.1087_1093delinsAACCTGG (p.Asn363=) c.1048_1054delinsAACCTGG (p.Asn350=) c.1081_1087delinsAACCTGG (p.Asn361=) c.958_964delinsAACCTGG (p.Asn320=) | |
19 | g.41982047C>A | CA507695112 | ATP1A3 | c.1092G>T (p.Leu364=) c.1053G>T (p.Leu351=) c.1086G>T (p.Leu362=) c.963G>T (p.Leu321=) | |
19 | g.41982047C>G | CA507695113 | ATP1A3 | c.1092G>C (p.Leu364=) c.1053G>C (p.Leu351=) c.1086G>C (p.Leu362=) c.963G>C (p.Leu321=) | |
19 | g.41982047C>T | CA507695114 | ATP1A3 | c.1092G>A (p.Leu364=) c.1053G>A (p.Leu351=) c.1086G>A (p.Leu362=) c.963G>A (p.Leu321=) | |
19 | g.41982048_41982053del | CA915952982 | ATP1A3 | c.1087_1092del (p.Asn363_Leu364del) c.1048_1053del (p.Asn350_Leu351del) c.1081_1086del (p.Asn361_Leu362del) c.958_963del (p.Asn320_Leu321del) | ClinVar dbSNP |
19 | g.41982048A>C | CA406051418 | ATP1A3 | c.1091T>G (p.Leu364Arg) c.1052T>G (p.Leu351Arg) c.1085T>G (p.Leu362Arg) c.962T>G (p.Leu321Arg) | |
19 | g.41982048A>G | CA406051429 | ATP1A3 | c.1091T>C (p.Leu364Pro) c.1052T>C (p.Leu351Pro) c.1085T>C (p.Leu362Pro) c.962T>C (p.Leu321Pro) | |
19 | g.41982048A>T | CA406051431 | ATP1A3 | c.1091T>A (p.Leu364Gln) c.1052T>A (p.Leu351Gln) c.1085T>A (p.Leu362Gln) c.962T>A (p.Leu321Gln) | |
19 | g.41982049G>A | CA9467722 | ATP1A3 | c.1090C>T (p.Leu364=) c.1051C>T (p.Leu351=) c.1084C>T (p.Leu362=) c.961C>T (p.Leu321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41982049G>C | CA406051444 | ATP1A3 | c.1090C>G (p.Leu364Val) c.1051C>G (p.Leu351Val) c.1084C>G (p.Leu362Val) c.961C>G (p.Leu321Val) | |
19 | g.41982049G= | CA2336726603 | ATP1A3 | c.1090C= (p.Leu364=) c.1051C= (p.Leu351=) c.1084C= (p.Leu362=) c.961C= (p.Leu321=) | |
19 | g.41982049G>T | CA406051447 | ATP1A3 | c.1090C>A (p.Leu364Met) c.1051C>A (p.Leu351Met) c.1084C>A (p.Leu362Met) c.961C>A (p.Leu321Met) | |
19 | g.41982050G>A | CA507695118 | ATP1A3 | c.1089C>T (p.Asn363=) c.1050C>T (p.Asn350=) c.1083C>T (p.Asn361=) c.960C>T (p.Asn320=) | dbSNP gnomAD v4 |
19 | g.41982050G>C | CA406051448 | ATP1A3 | c.1089C>G (p.Asn363Lys) c.1050C>G (p.Asn350Lys) c.1083C>G (p.Asn361Lys) c.960C>G (p.Asn320Lys) | |
19 | g.41982050G= | CA2336726604 | ATP1A3 | c.1089C= (p.Asn363=) c.1050C= (p.Asn350=) c.1083C= (p.Asn361=) c.960C= (p.Asn320=) | |
19 | g.41982050G>T | CA406051449 | ATP1A3 | c.1089C>A (p.Asn363Lys) c.1050C>A (p.Asn350Lys) c.1083C>A (p.Asn361Lys) c.960C>A (p.Asn320Lys) | ClinVar |
19 | g.41982051T>A | CA406051457 | ATP1A3 | c.1088A>T (p.Asn363Ile) c.1049A>T (p.Asn350Ile) c.1082A>T (p.Asn361Ile) c.959A>T (p.Asn320Ile) | |
19 | g.41982051T>C | CA406051452 | ATP1A3 | c.1088A>G (p.Asn363Ser) c.1049A>G (p.Asn350Ser) c.1082A>G (p.Asn361Ser) c.959A>G (p.Asn320Ser) | |
19 | g.41982051T>G | CA406051454 | ATP1A3 | c.1088A>C (p.Asn363Thr) c.1049A>C (p.Asn350Thr) c.1082A>C (p.Asn361Thr) c.959A>C (p.Asn320Thr) | |
19 | g.41982052T>A | CA406051464 | ATP1A3 | c.1087A>T (p.Asn363Tyr) c.1048A>T (p.Asn350Tyr) c.1081A>T (p.Asn361Tyr) c.958A>T (p.Asn320Tyr) | |
19 | g.41982052T>C | CA406051480 | ATP1A3 | c.1087A>G (p.Asn363Asp) c.1048A>G (p.Asn350Asp) c.1081A>G (p.Asn361Asp) c.958A>G (p.Asn320Asp) | |
19 | g.41982052T>G | CA406051483 | ATP1A3 | c.1087A>C (p.Asn363His) c.1048A>C (p.Asn350His) c.1081A>C (p.Asn361His) c.958A>C (p.Asn320His) | |
19 | g.41982053C>A | CA406051485 | ATP1A3 | c.1086G>T (p.Lys362Asn) c.1047G>T (p.Lys349Asn) c.1080G>T (p.Lys360Asn) c.957G>T (p.Lys319Asn) | |
19 | g.41982053C>G | CA406051487 | ATP1A3 | c.1086G>C (p.Lys362Asn) c.1047G>C (p.Lys349Asn) c.1080G>C (p.Lys360Asn) c.957G>C (p.Lys319Asn) | |
19 | g.41982053C>T | CA507695121 | ATP1A3 | c.1086G>A (p.Lys362=) c.1047G>A (p.Lys349=) c.1080G>A (p.Lys360=) c.957G>A (p.Lys319=) | |
19 | g.41982054T>A | CA406051492 | ATP1A3 | c.1085A>T (p.Lys362Met) c.1046A>T (p.Lys349Met) c.1079A>T (p.Lys360Met) c.956A>T (p.Lys319Met) | |
19 | g.41982054T>C | CA406051497 | ATP1A3 | c.1085A>G (p.Lys362Arg) c.1046A>G (p.Lys349Arg) c.1079A>G (p.Lys360Arg) c.956A>G (p.Lys319Arg) | |
19 | g.41982054T>G | CA406051498 | ATP1A3 | c.1085A>C (p.Lys362Thr) c.1046A>C (p.Lys349Thr) c.1079A>C (p.Lys360Thr) c.956A>C (p.Lys319Thr) | |
19 | g.41982055T>A | CA406051499 | ATP1A3 | c.1084A>T (p.Lys362Ter) c.1045A>T (p.Lys349Ter) c.1078A>T (p.Lys360Ter) c.955A>T (p.Lys319Ter) | |
19 | g.41982055T>C | CA406051500 | ATP1A3 | c.1084A>G (p.Lys362Glu) c.1045A>G (p.Lys349Glu) c.1078A>G (p.Lys360Glu) c.955A>G (p.Lys319Glu) | |
19 | g.41982055T>G | CA406051504 | ATP1A3 | c.1084A>C (p.Lys362Gln) c.1045A>C (p.Lys349Gln) c.1078A>C (p.Lys360Gln) c.955A>C (p.Lys319Gln) | |
19 | g.41982056C>A | CA507695127 | ATP1A3 | c.1083G>T (p.Val361=) c.1044G>T (p.Val348=) c.1077G>T (p.Val359=) c.954G>T (p.Val318=) | |
19 | g.41982056C= | CA2336726605 | ATP1A3 | c.1083G= (p.Val361=) c.1044G= (p.Val348=) c.1077G= (p.Val359=) c.954G= (p.Val318=) | |
19 | g.41982056C>G | CA507695125 | ATP1A3 | c.1083G>C (p.Val361=) c.1044G>C (p.Val348=) c.1077G>C (p.Val359=) c.954G>C (p.Val318=) | |
19 | g.41982056C>T | CA507695126 | ATP1A3 | c.1083G>A (p.Val361=) c.1044G>A (p.Val348=) c.1077G>A (p.Val359=) c.954G>A (p.Val318=) | dbSNP |
19 | g.41982057A>C | CA406051509 | ATP1A3 | c.1082T>G (p.Val361Gly) c.1043T>G (p.Val348Gly) c.1076T>G (p.Val359Gly) c.953T>G (p.Val318Gly) | |
19 | g.41982057A>G | CA406051508 | ATP1A3 | c.1082T>C (p.Val361Ala) c.1043T>C (p.Val348Ala) c.1076T>C (p.Val359Ala) c.953T>C (p.Val318Ala) | |
19 | g.41982057A>T | CA406051507 | ATP1A3 | c.1082T>A (p.Val361Glu) c.1043T>A (p.Val348Glu) c.1076T>A (p.Val359Glu) c.953T>A (p.Val318Glu) | |
19 | g.41982058C>A | CA406051516 | ATP1A3 | c.1081G>T (p.Val361Leu) c.1042G>T (p.Val348Leu) c.1075G>T (p.Val359Leu) c.952G>T (p.Val318Leu) | |
19 | g.41982058C>G | CA406051512 | ATP1A3 | c.1081G>C (p.Val361Leu) c.1042G>C (p.Val348Leu) c.1075G>C (p.Val359Leu) c.952G>C (p.Val318Leu) | |
19 | g.41982058C>T | CA406051514 | ATP1A3 | c.1081G>A (p.Val361Met) c.1042G>A (p.Val348Met) c.1075G>A (p.Val359Met) c.952G>A (p.Val318Met) | |
19 | g.41982059C>A | CA507695133 | ATP1A3 | c.1080G>T (p.Leu360=) c.1041G>T (p.Leu347=) c.1074G>T (p.Leu358=) c.951G>T (p.Leu317=) | |
19 | g.41982059C>G | CA507695132 | ATP1A3 | c.1080G>C (p.Leu360=) c.1041G>C (p.Leu347=) c.1074G>C (p.Leu358=) c.951G>C (p.Leu317=) | |
19 | g.41982059C>T | CA507695131 | ATP1A3 | c.1080G>A (p.Leu360=) c.1041G>A (p.Leu347=) c.1074G>A (p.Leu358=) c.951G>A (p.Leu317=) | |
19 | g.41982060A>C | CA406051520 | ATP1A3 | c.1079T>G (p.Leu360Arg) c.1040T>G (p.Leu347Arg) c.1073T>G (p.Leu358Arg) c.950T>G (p.Leu317Arg) | |
19 | g.41982060A>G | CA406051522 | ATP1A3 | c.1079T>C (p.Leu360Pro) c.1040T>C (p.Leu347Pro) c.1073T>C (p.Leu358Pro) c.950T>C (p.Leu317Pro) | |
19 | g.41982060A>T | CA406051526 | ATP1A3 | c.1079T>A (p.Leu360Gln) c.1040T>A (p.Leu347Gln) c.1073T>A (p.Leu358Gln) c.950T>A (p.Leu317Gln) | |
19 | g.41982061G>A | CA507695134 | ATP1A3 | c.1078C>T (p.Leu360=) c.1039C>T (p.Leu347=) c.1072C>T (p.Leu358=) c.949C>T (p.Leu317=) | dbSNP |
19 | g.41982061G>C | CA406051532 | ATP1A3 | c.1078C>G (p.Leu360Val) c.1039C>G (p.Leu347Val) c.1072C>G (p.Leu358Val) c.949C>G (p.Leu317Val) | |
19 | g.41982061G= | CA2336726606 | ATP1A3 | c.1078C= (p.Leu360=) c.1039C= (p.Leu347=) c.1072C= (p.Leu358=) c.949C= (p.Leu317=) | |
19 | g.41982061G>T | CA406051540 | ATP1A3 | c.1078C>A (p.Leu360Met) c.1039C>A (p.Leu347Met) c.1072C>A (p.Leu358Met) c.949C>A (p.Leu317Met) | |
19 | g.41982062G>A | CA507695135 | ATP1A3 | c.1077C>T (p.Cys359=) c.1038C>T (p.Cys346=) c.1071C>T (p.Cys357=) c.948C>T (p.Cys316=) | dbSNP gnomAD v4 |
19 | g.41982062G>C | CA406051543 | ATP1A3 | c.1077C>G (p.Cys359Trp) c.1038C>G (p.Cys346Trp) c.1071C>G (p.Cys357Trp) c.948C>G (p.Cys316Trp) | |
19 | g.41982062G= | CA2336726607 | ATP1A3 | c.1077C= (p.Cys359=) c.1038C= (p.Cys346=) c.1071C= (p.Cys357=) c.948C= (p.Cys316=) | |
19 | g.41982062G>T | CA406051546 | ATP1A3 | c.1077C>A (p.Cys359Ter) c.1038C>A (p.Cys346Ter) c.1071C>A (p.Cys357Ter) c.948C>A (p.Cys316Ter) | |
19 | g.41982063C>A | CA406051550 | ATP1A3 | c.1076G>T (p.Cys359Phe) c.1037G>T (p.Cys346Phe) c.1070G>T (p.Cys357Phe) c.947G>T (p.Cys316Phe) | |
19 | g.41982063C>G | CA406051552 | ATP1A3 | c.1076G>C (p.Cys359Ser) c.1037G>C (p.Cys346Ser) c.1070G>C (p.Cys357Ser) c.947G>C (p.Cys316Ser) | |
19 | g.41982063C>T | CA406051553 | ATP1A3 | c.1076G>A (p.Cys359Tyr) c.1037G>A (p.Cys346Tyr) c.1070G>A (p.Cys357Tyr) c.947G>A (p.Cys316Tyr) | |
19 | g.41982064A= | CA2336726608 | ATP1A3 | c.1075T= (p.Cys359=) c.1036T= (p.Cys346=) c.1069T= (p.Cys357=) c.946T= (p.Cys316=) | |
19 | g.41982064A>C | CA406051560 | ATP1A3 | c.1075T>G (p.Cys359Gly) c.1036T>G (p.Cys346Gly) c.1069T>G (p.Cys357Gly) c.946T>G (p.Cys316Gly) | |
19 | g.41982064A>G | CA406051557 | ATP1A3 | c.1075T>C (p.Cys359Arg) c.1036T>C (p.Cys346Arg) c.1069T>C (p.Cys357Arg) c.946T>C (p.Cys316Arg) | ClinVar dbSNP |
19 | g.41982064A>T | CA406051555 | ATP1A3 | c.1075T>A (p.Cys359Ser) c.1036T>A (p.Cys346Ser) c.1069T>A (p.Cys357Ser) c.946T>A (p.Cys316Ser) | |
19 | g.41982065G>A | CA507695137 | ATP1A3 | c.1074C>T (p.Asn358=) c.1035C>T (p.Asn345=) c.1068C>T (p.Asn356=) c.945C>T (p.Asn315=) | |
19 | g.41982065G>C | CA406051563 | ATP1A3 | c.1074C>G (p.Asn358Lys) c.1035C>G (p.Asn345Lys) c.1068C>G (p.Asn356Lys) c.945C>G (p.Asn315Lys) | |
19 | g.41982065G>T | CA406051565 | ATP1A3 | c.1074C>A (p.Asn358Lys) c.1035C>A (p.Asn345Lys) c.1068C>A (p.Asn356Lys) c.945C>A (p.Asn315Lys) | |
19 | g.41982066T>A | CA406051567 | ATP1A3 | c.1073A>T (p.Asn358Ile) c.1034A>T (p.Asn345Ile) c.1067A>T (p.Asn356Ile) c.944A>T (p.Asn315Ile) | |
19 | g.41982066T>C | CA406051568 | ATP1A3 | c.1073A>G (p.Asn358Ser) c.1034A>G (p.Asn345Ser) c.1067A>G (p.Asn356Ser) c.944A>G (p.Asn315Ser) | |
19 | g.41982066T>G | CA406051569 | ATP1A3 | c.1073A>C (p.Asn358Thr) c.1034A>C (p.Asn345Thr) c.1067A>C (p.Asn356Thr) c.944A>C (p.Asn315Thr) | |
19 | g.41982067T>A | CA406051570 | ATP1A3 | c.1072A>T (p.Asn358Tyr) c.1033A>T (p.Asn345Tyr) c.1066A>T (p.Asn356Tyr) c.943A>T (p.Asn315Tyr) | |
19 | g.41982067T>C | CA406051571 | ATP1A3 | c.1072A>G (p.Asn358Asp) c.1033A>G (p.Asn345Asp) c.1066A>G (p.Asn356Asp) c.943A>G (p.Asn315Asp) | |
19 | g.41982067T>G | CA406051573 | ATP1A3 | c.1072A>C (p.Asn358His) c.1033A>C (p.Asn345His) c.1066A>C (p.Asn356His) c.943A>C (p.Asn315His) | |
19 | g.41982068C>A | CA406051575 | ATP1A3 | c.1071G>T (p.Lys357Asn) c.1032G>T (p.Lys344Asn) c.1065G>T (p.Lys355Asn) c.942G>T (p.Lys314Asn) | COSMIC |
19 | g.41982068C>G | CA406051577 | ATP1A3 | c.1071G>C (p.Lys357Asn) c.1032G>C (p.Lys344Asn) c.1065G>C (p.Lys355Asn) c.942G>C (p.Lys314Asn) | |
19 | g.41982068C>T | CA507695139 | ATP1A3 | c.1071G>A (p.Lys357=) c.1032G>A (p.Lys344=) c.1065G>A (p.Lys355=) c.942G>A (p.Lys314=) | |
19 | g.41982069T>A | CA406051579 | ATP1A3 | c.1070A>T (p.Lys357Met) c.1031A>T (p.Lys344Met) c.1064A>T (p.Lys355Met) c.941A>T (p.Lys314Met) | COSMIC |
19 | g.41982069T>C | CA406051581 | ATP1A3 | c.1070A>G (p.Lys357Arg) c.1031A>G (p.Lys344Arg) c.1064A>G (p.Lys355Arg) c.941A>G (p.Lys314Arg) | |
19 | g.41982069T>G | CA406051583 | ATP1A3 | c.1070A>C (p.Lys357Thr) c.1031A>C (p.Lys344Thr) c.1064A>C (p.Lys355Thr) c.941A>C (p.Lys314Thr) | |
19 | g.41982070T>A | CA406051591 | ATP1A3 | c.1069A>T (p.Lys357Ter) c.1030A>T (p.Lys344Ter) c.1063A>T (p.Lys355Ter) c.940A>T (p.Lys314Ter) | |
19 | g.41982070T>C | CA406051593 | ATP1A3 | c.1069A>G (p.Lys357Glu) c.1030A>G (p.Lys344Glu) c.1063A>G (p.Lys355Glu) c.940A>G (p.Lys314Glu) | |
19 | g.41982070T>G | CA406051590 | ATP1A3 | c.1069A>C (p.Lys357Gln) c.1030A>C (p.Lys344Gln) c.1063A>C (p.Lys355Gln) c.940A>C (p.Lys314Gln) | |
19 | g.41982071C>A | CA507695140 | ATP1A3 | c.1068G>T (p.Arg356=) c.1029G>T (p.Arg343=) c.1062G>T (p.Arg354=) c.939G>T (p.Arg313=) | |
19 | g.41982071C= | CA2336726609 | ATP1A3 | c.1068G= (p.Arg356=) c.1029G= (p.Arg343=) c.1062G= (p.Arg354=) c.939G= (p.Arg313=) | |
19 | g.41982071C>G | CA507695141 | ATP1A3 | c.1068G>C (p.Arg356=) c.1029G>C (p.Arg343=) c.1062G>C (p.Arg354=) c.939G>C (p.Arg313=) | |
19 | g.41982071C>T | CA9467723 | ATP1A3 | c.1068G>A (p.Arg356=) c.1029G>A (p.Arg343=) c.1062G>A (p.Arg354=) c.939G>A (p.Arg313=) | dbSNP ExAC gnomAD v2 |
19 | g.41982072C>A | CA406051601 | ATP1A3 | c.1067G>T (p.Arg356Leu) c.1028G>T (p.Arg343Leu) c.1061G>T (p.Arg354Leu) c.938G>T (p.Arg313Leu) | |
19 | g.41982072C= | CA2336726610 | ATP1A3 | c.1067G= (p.Arg356=) c.1028G= (p.Arg343=) c.1061G= (p.Arg354=) c.938G= (p.Arg313=) | |
19 | g.41982072C>G | CA406051596 | ATP1A3 | c.1067G>C (p.Arg356Pro) c.1028G>C (p.Arg343Pro) c.1061G>C (p.Arg354Pro) c.938G>C (p.Arg313Pro) | |
19 | g.41982072C>T | CA9467724 | ATP1A3 | c.1067G>A (p.Arg356Gln) c.1028G>A (p.Arg343Gln) c.1061G>A (p.Arg354Gln) c.938G>A (p.Arg313Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41982073G>A | CA209965 | ATP1A3 | c.1066C>T (p.Arg356Trp) c.1027C>T (p.Arg343Trp) c.1060C>T (p.Arg354Trp) c.937C>T (p.Arg313Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41982073G>C | CA406051604 | ATP1A3 | c.1066C>G (p.Arg356Gly) c.1027C>G (p.Arg343Gly) c.1060C>G (p.Arg354Gly) c.937C>G (p.Arg313Gly) | |
19 | g.41982073G= | CA2336726611 | ATP1A3 | c.1066C= (p.Arg356=) c.1027C= (p.Arg343=) c.1060C= (p.Arg354=) c.937C= (p.Arg313=) | |
19 | g.41982073G>T | CA507695145 | ATP1A3 | c.1066C>A (p.Arg356=) c.1027C>A (p.Arg343=) c.1060C>A (p.Arg354=) c.937C>A (p.Arg313=) | |
19 | g.41982074G>A | CA507695146 | ATP1A3 | c.1065C>T (p.Ala355=) c.1026C>T (p.Ala342=) c.1059C>T (p.Ala353=) c.936C>T (p.Ala312=) | |
19 | g.41982074G>C | CA507695147 | ATP1A3 | c.1065C>G (p.Ala355=) c.1026C>G (p.Ala342=) c.1059C>G (p.Ala353=) c.936C>G (p.Ala312=) | |
19 | g.41982074G>T | CA507695148 | ATP1A3 | c.1065C>A (p.Ala355=) c.1026C>A (p.Ala342=) c.1059C>A (p.Ala353=) c.936C>A (p.Ala312=) | |
19 | g.41982075G>A | CA406051607 | ATP1A3 | c.1064C>T (p.Ala355Val) c.1025C>T (p.Ala342Val) c.1058C>T (p.Ala353Val) c.935C>T (p.Ala312Val) | |
19 | g.41982075G>C | CA406051609 | ATP1A3 | c.1064C>G (p.Ala355Gly) c.1025C>G (p.Ala342Gly) c.1058C>G (p.Ala353Gly) c.935C>G (p.Ala312Gly) | |
19 | g.41982075G>T | CA406051611 | ATP1A3 | c.1064C>A (p.Ala355Asp) c.1025C>A (p.Ala342Asp) c.1058C>A (p.Ala353Asp) c.935C>A (p.Ala312Asp) | |
19 | g.41982076C>A | CA406051614 | ATP1A3 | c.1063G>T (p.Ala355Ser) c.1024G>T (p.Ala342Ser) c.1057G>T (p.Ala353Ser) c.934G>T (p.Ala312Ser) | |
19 | g.41982076C>G | CA406051617 | ATP1A3 | c.1063G>C (p.Ala355Pro) c.1024G>C (p.Ala342Pro) c.1057G>C (p.Ala353Pro) c.934G>C (p.Ala312Pro) | |
19 | g.41982076C>T | CA406051621 | ATP1A3 | c.1063G>A (p.Ala355Thr) c.1024G>A (p.Ala342Thr) c.1057G>A (p.Ala353Thr) c.934G>A (p.Ala312Thr) | |
19 | g.41982077C>A | CA406051628 | ATP1A3 | c.1062G>T (p.Met354Ile) c.1023G>T (p.Met341Ile) c.1056G>T (p.Met352Ile) c.933G>T (p.Met311Ile) | COSMIC |
19 | g.41982077C>G | CA406051625 | ATP1A3 | c.1062G>C (p.Met354Ile) c.1023G>C (p.Met341Ile) c.1056G>C (p.Met352Ile) c.933G>C (p.Met311Ile) | |
19 | g.41982077C>T | CA406051624 | ATP1A3 | c.1062G>A (p.Met354Ile) c.1023G>A (p.Met341Ile) c.1056G>A (p.Met352Ile) c.933G>A (p.Met311Ile) | |
19 | g.41982078A>C | CA406051631 | ATP1A3 | c.1061T>G (p.Met354Arg) c.1022T>G (p.Met341Arg) c.1055T>G (p.Met352Arg) c.932T>G (p.Met311Arg) | |
19 | g.41982078A>G | CA406051633 | ATP1A3 | c.1061T>C (p.Met354Thr) c.1022T>C (p.Met341Thr) c.1055T>C (p.Met352Thr) c.932T>C (p.Met311Thr) | |
19 | g.41982078A>T | CA406051636 | ATP1A3 | c.1061T>A (p.Met354Lys) c.1022T>A (p.Met341Lys) c.1055T>A (p.Met352Lys) c.932T>A (p.Met311Lys) | |
19 | g.41982079T>A | CA406051640 | ATP1A3 | c.1060A>T (p.Met354Leu) c.1021A>T (p.Met341Leu) c.1054A>T (p.Met352Leu) c.931A>T (p.Met311Leu) | |
19 | g.41982079T>C | CA406051644 | ATP1A3 | c.1060A>G (p.Met354Val) c.1021A>G (p.Met341Val) c.1054A>G (p.Met352Val) c.931A>G (p.Met311Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41982079T>G | CA406051646 | ATP1A3 | c.1060A>C (p.Met354Leu) c.1021A>C (p.Met341Leu) c.1054A>C (p.Met352Leu) c.931A>C (p.Met311Leu) | |
19 | g.41982079T= | CA2336726612 | ATP1A3 | c.1060A= (p.Met354=) c.1021A= (p.Met341=) c.1054A= (p.Met352=) c.931A= (p.Met311=) | |
19 | g.41982080G>A | CA507695150 | ATP1A3 | c.1059C>T (p.Arg353=) c.1020C>T (p.Arg340=) c.1053C>T (p.Arg351=) c.930C>T (p.Arg310=) | gnomAD v4 |
19 | g.41982080G>C | CA507695151 | ATP1A3 | c.1059C>G (p.Arg353=) c.1020C>G (p.Arg340=) c.1053C>G (p.Arg351=) c.930C>G (p.Arg310=) | |
19 | g.41982080G= | CA2336726613 | ATP1A3 | c.1059C= (p.Arg353=) c.1020C= (p.Arg340=) c.1053C= (p.Arg351=) c.930C= (p.Arg310=) | |
19 | g.41982080G>T | CA507695152 | ATP1A3 | c.1059C>A (p.Arg353=) c.1020C>A (p.Arg340=) c.1053C>A (p.Arg351=) c.930C>A (p.Arg310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41982081C>A | CA406051649 | ATP1A3 | c.1058G>T (p.Arg353Leu) c.1019G>T (p.Arg340Leu) c.1052G>T (p.Arg351Leu) c.929G>T (p.Arg310Leu) | |
19 | g.41982081C= | CA2336726614 | ATP1A3 | c.1058G= (p.Arg353=) c.1019G= (p.Arg340=) c.1052G= (p.Arg351=) c.929G= (p.Arg310=) | |
19 | g.41982081C>G | CA406051651 | ATP1A3 | c.1058G>C (p.Arg353Pro) c.1019G>C (p.Arg340Pro) c.1052G>C (p.Arg351Pro) c.929G>C (p.Arg310Pro) | |
19 | g.41982081C>T | CA308595893 | ATP1A3 | c.1058G>A (p.Arg353His) c.1019G>A (p.Arg340His) c.1052G>A (p.Arg351His) c.929G>A (p.Arg310His) | dbSNP gnomAD v4 |
19 | g.41982082G>A | CA9467725 | ATP1A3 | c.1057C>T (p.Arg353Cys) c.1018C>T (p.Arg340Cys) c.1051C>T (p.Arg351Cys) c.928C>T (p.Arg310Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41982082G>C | CA406051658 | ATP1A3 | c.1057C>G (p.Arg353Gly) c.1018C>G (p.Arg340Gly) c.1051C>G (p.Arg351Gly) c.928C>G (p.Arg310Gly) | |
19 | g.41982082G= | CA2336726615 | ATP1A3 | c.1057C= (p.Arg353=) c.1018C= (p.Arg340=) c.1051C= (p.Arg351=) c.928C= (p.Arg310=) | |
19 | g.41982082G>T | CA406051661 | ATP1A3 | c.1057C>A (p.Arg353Ser) c.1018C>A (p.Arg340Ser) c.1051C>A (p.Arg351Ser) c.928C>A (p.Arg310Ser) | gnomAD v4 |
19 | g.41982083C>A | CA406051663 | ATP1A3 | c.1056G>T (p.Lys352Asn) c.1017G>T (p.Lys339Asn) c.1050G>T (p.Lys350Asn) c.927G>T (p.Lys309Asn) | |
19 | g.41982083C= | CA2336726616 | ATP1A3 | c.1056G= (p.Lys352=) c.1017G= (p.Lys339=) c.1050G= (p.Lys350=) c.927G= (p.Lys309=) | |
19 | g.41982083C>G | CA406051664 | ATP1A3 | c.1056G>C (p.Lys352Asn) c.1017G>C (p.Lys339Asn) c.1050G>C (p.Lys350Asn) c.927G>C (p.Lys309Asn) | |
19 | g.41982083C>T | CA9467726 | ATP1A3 | c.1056G>A (p.Lys352=) c.1017G>A (p.Lys339=) c.1050G>A (p.Lys350=) c.927G>A (p.Lys309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41982084T>A | CA406051666 | ATP1A3 | c.1055A>T (p.Lys352Met) c.1016A>T (p.Lys339Met) c.1049A>T (p.Lys350Met) c.926A>T (p.Lys309Met) | |
19 | g.41982084T>C | CA406051667 | ATP1A3 | c.1055A>G (p.Lys352Arg) c.1016A>G (p.Lys339Arg) c.1049A>G (p.Lys350Arg) c.926A>G (p.Lys309Arg) | |
19 | g.41982084T>G | CA406051669 | ATP1A3 | c.1055A>C (p.Lys352Thr) c.1016A>C (p.Lys339Thr) c.1049A>C (p.Lys350Thr) c.926A>C (p.Lys309Thr) | |
19 | g.41982085T>A | CA406051673 | ATP1A3 | c.1054A>T (p.Lys352Ter) c.1015A>T (p.Lys339Ter) c.1048A>T (p.Lys350Ter) c.925A>T (p.Lys309Ter) | |
19 | g.41982085T>C | CA406051675 | ATP1A3 | c.1054A>G (p.Lys352Glu) c.1015A>G (p.Lys339Glu) c.1048A>G (p.Lys350Glu) c.925A>G (p.Lys309Glu) | |
19 | g.41982085T>G | CA406051677 | ATP1A3 | c.1054A>C (p.Lys352Gln) c.1015A>C (p.Lys339Gln) c.1048A>C (p.Lys350Gln) c.925A>C (p.Lys309Gln) | |
19 | g.41982086G>A | CA507695155 | ATP1A3 | c.1053C>T (p.Ala351=) c.1014C>T (p.Ala338=) c.1047C>T (p.Ala349=) c.924C>T (p.Ala308=) | |
19 | g.41982086G>C | CA507695156 | ATP1A3 | c.1053C>G (p.Ala351=) c.1014C>G (p.Ala338=) c.1047C>G (p.Ala349=) c.924C>G (p.Ala308=) | |
19 | g.41982086G>T | CA507695157 | ATP1A3 | c.1053C>A (p.Ala351=) c.1014C>A (p.Ala338=) c.1047C>A (p.Ala349=) c.924C>A (p.Ala308=) | |
19 | g.41982087G>A | CA406051679 | ATP1A3 | c.1052C>T (p.Ala351Val) c.1013C>T (p.Ala338Val) c.1046C>T (p.Ala349Val) c.923C>T (p.Ala308Val) | |
19 | g.41982087G>C | CA406051685 | ATP1A3 | c.1052C>G (p.Ala351Gly) c.1013C>G (p.Ala338Gly) c.1046C>G (p.Ala349Gly) c.923C>G (p.Ala308Gly) | |
19 | g.41982087G= | CA2336726617 | ATP1A3 | c.1052C= (p.Ala351=) c.1013C= (p.Ala338=) c.1046C= (p.Ala349=) c.923C= (p.Ala308=) | |
19 | g.41982087G>T | CA406051682 | ATP1A3 | c.1052C>A (p.Ala351Asp) c.1013C>A (p.Ala338Asp) c.1046C>A (p.Ala349Asp) c.923C>A (p.Ala308Asp) | ClinVar dbSNP |
19 | g.41982088C>A | CA406051688 | ATP1A3 | c.1051G>T (p.Ala351Ser) c.1012G>T (p.Ala338Ser) c.1045G>T (p.Ala349Ser) c.922G>T (p.Ala308Ser) | gnomAD v4 |
19 | g.41982088C>G | CA406051690 | ATP1A3 | c.1051G>C (p.Ala351Pro) c.1012G>C (p.Ala338Pro) c.1045G>C (p.Ala349Pro) c.922G>C (p.Ala308Pro) | ClinVar dbSNP |
19 | g.41982088C>T | CA406051692 | ATP1A3 | c.1051G>A (p.Ala351Thr) c.1012G>A (p.Ala338Thr) c.1045G>A (p.Ala349Thr) c.922G>A (p.Ala308Thr) | ClinVar dbSNP COSMIC |
19 | g.41982089G>A | CA9467727 | ATP1A3 | c.1050C>T (p.Thr350=) c.1011C>T (p.Thr337=) c.1044C>T (p.Thr348=) c.921C>T (p.Thr307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41982089G>C | CA507695161 | ATP1A3 | c.1050C>G (p.Thr350=) c.1011C>G (p.Thr337=) c.1044C>G (p.Thr348=) c.921C>G (p.Thr307=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41982089G= | CA2336726618 | ATP1A3 | c.1050C= (p.Thr350=) c.1011C= (p.Thr337=) c.1044C= (p.Thr348=) c.921C= (p.Thr307=) | |
19 | g.41982089G>T | CA507695160 | ATP1A3 | c.1050C>A (p.Thr350=) c.1011C>A (p.Thr337=) c.1044C>A (p.Thr348=) c.921C>A (p.Thr307=) | ClinVar gnomAD v4 |
19 | g.41982090G>A | CA406051696 | ATP1A3 | c.1049C>T (p.Thr350Ile) c.1010C>T (p.Thr337Ile) c.1043C>T (p.Thr348Ile) c.920C>T (p.Thr307Ile) | gnomAD v4 |
19 | g.41982090G>C | CA406051700 | ATP1A3 | c.1049C>G (p.Thr350Ser) c.1010C>G (p.Thr337Ser) c.1043C>G (p.Thr348Ser) c.920C>G (p.Thr307Ser) | |
19 | g.41982090G>T | CA406051698 | ATP1A3 | c.1049C>A (p.Thr350Asn) c.1010C>A (p.Thr337Asn) c.1043C>A (p.Thr348Asn) c.920C>A (p.Thr307Asn) | |
19 | g.41982091T>A | CA406051704 | ATP1A3 | c.1048A>T (p.Thr350Ser) c.1009A>T (p.Thr337Ser) c.1042A>T (p.Thr348Ser) c.919A>T (p.Thr307Ser) | |
19 | g.41982091T>C | CA406051707 | ATP1A3 | c.1048A>G (p.Thr350Ala) c.1009A>G (p.Thr337Ala) c.1042A>G (p.Thr348Ala) c.919A>G (p.Thr307Ala) | |
19 | g.41982091T>G | CA406051709 | ATP1A3 | c.1048A>C (p.Thr350Pro) c.1009A>C (p.Thr337Pro) c.1042A>C (p.Thr348Pro) c.919A>C (p.Thr307Pro) | |
19 | g.41982092C>A | CA507695162 | ATP1A3 | c.1047G>T (p.Leu349=) c.1008G>T (p.Leu336=) c.1041G>T (p.Leu347=) c.918G>T (p.Leu306=) | |
19 | g.41982092C>G | CA507695163 | ATP1A3 | c.1047G>C (p.Leu349=) c.1008G>C (p.Leu336=) c.1041G>C (p.Leu347=) c.918G>C (p.Leu306=) | |
19 | g.41982092C>T | CA507695165 | ATP1A3 | c.1047G>A (p.Leu349=) c.1008G>A (p.Leu336=) c.1041G>A (p.Leu347=) c.918G>A (p.Leu306=) | |
19 | g.41982093A>C | CA406051713 | ATP1A3 | c.1046T>G (p.Leu349Arg) c.1007T>G (p.Leu336Arg) c.1040T>G (p.Leu347Arg) c.917T>G (p.Leu306Arg) | |
19 | g.41982093A>G | CA406051715 | ATP1A3 | c.1046T>C (p.Leu349Pro) c.1007T>C (p.Leu336Pro) c.1040T>C (p.Leu347Pro) c.917T>C (p.Leu306Pro) | |
19 | g.41982093A>T | CA406051719 | ATP1A3 | c.1046T>A (p.Leu349Gln) c.1007T>A (p.Leu336Gln) c.1040T>A (p.Leu347Gln) c.917T>A (p.Leu306Gln) | |
19 | g.41982094G>A | CA507695166 | ATP1A3 | c.1045C>T (p.Leu349=) c.1006C>T (p.Leu336=) c.1039C>T (p.Leu347=) c.916C>T (p.Leu306=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41982094G>C | CA406051721 | ATP1A3 | c.1045C>G (p.Leu349Val) c.1006C>G (p.Leu336Val) c.1039C>G (p.Leu347Val) c.916C>G (p.Leu306Val) | |
19 | g.41982094G= | CA2336726619 | ATP1A3 | c.1045C= (p.Leu349=) c.1006C= (p.Leu336=) c.1039C= (p.Leu347=) c.916C= (p.Leu306=) | |
19 | g.41982094G>T | CA406051723 | ATP1A3 | c.1045C>A (p.Leu349Met) c.1006C>A (p.Leu336Met) c.1039C>A (p.Leu347Met) c.916C>A (p.Leu306Met) | |
19 | g.41982095C>A | CA507695167 | ATP1A3 | c.1044G>T (p.Thr348=) c.1005G>T (p.Thr335=) c.1038G>T (p.Thr346=) c.915G>T (p.Thr305=) | |
19 | g.41982095C= | CA2336726620 | ATP1A3 | c.1044G= (p.Thr348=) c.1005G= (p.Thr335=) c.1038G= (p.Thr346=) c.915G= (p.Thr305=) | |
19 | g.41982095C>G | CA507695168 | ATP1A3 | c.1044G>C (p.Thr348=) c.1005G>C (p.Thr335=) c.1038G>C (p.Thr346=) c.915G>C (p.Thr305=) | |
19 | g.41982095C>T | CA9467728 | ATP1A3 | c.1044G>A (p.Thr348=) c.1005G>A (p.Thr335=) c.1038G>A (p.Thr346=) c.915G>A (p.Thr305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41982096G>A | CA406051727 | ATP1A3 | c.1043C>T (p.Thr348Met) c.1004C>T (p.Thr335Met) c.1037C>T (p.Thr346Met) c.914C>T (p.Thr305Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41982096G>C | CA406051730 | ATP1A3 | c.1043C>G (p.Thr348Arg) c.1004C>G (p.Thr335Arg) c.1037C>G (p.Thr346Arg) c.914C>G (p.Thr305Arg) | |
19 | g.41982096G= | CA2336726621 | ATP1A3 | c.1043C= (p.Thr348=) c.1004C= (p.Thr335=) c.1037C= (p.Thr346=) c.914C= (p.Thr305=) | |
19 | g.41982096G>T | CA406051733 | ATP1A3 | c.1043C>A (p.Thr348Lys) c.1004C>A (p.Thr335Lys) c.1037C>A (p.Thr346Lys) c.914C>A (p.Thr305Lys) | ClinVar dbSNP |
19 | g.41982097T>A | CA406051736 | ATP1A3 | c.1042A>T (p.Thr348Ser) c.1003A>T (p.Thr335Ser) c.1036A>T (p.Thr346Ser) c.913A>T (p.Thr305Ser) | |
19 | g.41982097T>C | CA406051739 | ATP1A3 | c.1042A>G (p.Thr348Ala) c.1003A>G (p.Thr335Ala) c.1036A>G (p.Thr346Ala) c.913A>G (p.Thr305Ala) | |
19 | g.41982097T>G | CA346005 | ATP1A3 | c.1042A>C (p.Thr348Pro) c.1003A>C (p.Thr335Pro) c.1036A>C (p.Thr346Pro) c.913A>C (p.Thr305Pro) | dbSNP |
19 | g.41982097T= | CA2336726622 | ATP1A3 | c.1042A= (p.Thr348=) c.1003A= (p.Thr335=) c.1036A= (p.Thr346=) c.913A= (p.Thr305=) |