| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10375553C>A | CA351784493 | ATP2B2 | c.1158G>T (p.Glu386Asp) c.1260G>T (p.Glu420Asp) c.1293G>T (p.Glu431Asp) c.1200G>T (p.Glu400Asp) c.552G>T (p.Glu184Asp) c.861G>T (p.Glu287Asp) c.225G>T (p.Glu75Asp) | |
| 3 | g.10375553C= | CA1345182458 | ATP2B2 | c.1158G= (p.Glu386=) c.1260G= (p.Glu420=) c.1293G= (p.Glu431=) c.1200G= (p.Glu400=) c.552G= (p.Glu184=) c.861G= (p.Glu287=) c.225G= (p.Glu75=) | |
| 3 | g.10375553C>G | CA351784494 | ATP2B2 | c.1158G>C (p.Glu386Asp) c.1260G>C (p.Glu420Asp) c.1293G>C (p.Glu431Asp) c.1200G>C (p.Glu400Asp) c.552G>C (p.Glu184Asp) c.861G>C (p.Glu287Asp) c.225G>C (p.Glu75Asp) | |
| 3 | g.10375553C>T | CA2253703 | ATP2B2 | c.1158G>A (p.Glu386=) c.1260G>A (p.Glu420=) c.1293G>A (p.Glu431=) c.1200G>A (p.Glu400=) c.552G>A (p.Glu184=) c.861G>A (p.Glu287=) c.225G>A (p.Glu75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375554T>A | CA351784495 | ATP2B2 | c.1157A>T (p.Glu386Val) c.1259A>T (p.Glu420Val) c.1292A>T (p.Glu431Val) c.1199A>T (p.Glu400Val) c.551A>T (p.Glu184Val) c.860A>T (p.Glu287Val) c.224A>T (p.Glu75Val) | |
| 3 | g.10375554T>C | CA351784496 | ATP2B2 | c.1157A>G (p.Glu386Gly) c.1259A>G (p.Glu420Gly) c.1292A>G (p.Glu431Gly) c.1199A>G (p.Glu400Gly) c.551A>G (p.Glu184Gly) c.860A>G (p.Glu287Gly) c.224A>G (p.Glu75Gly) | |
| 3 | g.10375554T>G | CA351784497 | ATP2B2 | c.1157A>C (p.Glu386Ala) c.1259A>C (p.Glu420Ala) c.1292A>C (p.Glu431Ala) c.1199A>C (p.Glu400Ala) c.551A>C (p.Glu184Ala) c.860A>C (p.Glu287Ala) c.224A>C (p.Glu75Ala) | |
| 3 | g.10375555C>A | CA351784500 | ATP2B2 | c.1156G>T (p.Glu386Ter) c.1258G>T (p.Glu420Ter) c.1291G>T (p.Glu431Ter) c.1198G>T (p.Glu400Ter) c.550G>T (p.Glu184Ter) c.859G>T (p.Glu287Ter) c.223G>T (p.Glu75Ter) | |
| 3 | g.10375555C>G | CA351784499 | ATP2B2 | c.1156G>C (p.Glu386Gln) c.1258G>C (p.Glu420Gln) c.1291G>C (p.Glu431Gln) c.1198G>C (p.Glu400Gln) c.550G>C (p.Glu184Gln) c.859G>C (p.Glu287Gln) c.223G>C (p.Glu75Gln) | |
| 3 | g.10375555C>T | CA351784498 | ATP2B2 | c.1156G>A (p.Glu386Lys) c.1258G>A (p.Glu420Lys) c.1291G>A (p.Glu431Lys) c.1198G>A (p.Glu400Lys) c.550G>A (p.Glu184Lys) c.859G>A (p.Glu287Lys) c.223G>A (p.Glu75Lys) | |
| 3 | g.10375556A>C | CA432441791 | ATP2B2 | c.1155T>G (p.Pro385=) c.1257T>G (p.Pro419=) c.1290T>G (p.Pro430=) c.1197T>G (p.Pro399=) c.549T>G (p.Pro183=) c.858T>G (p.Pro286=) c.222T>G (p.Pro74=) | |
| 3 | g.10375556A>G | CA432441792 | ATP2B2 | c.1155T>C (p.Pro385=) c.1257T>C (p.Pro419=) c.1290T>C (p.Pro430=) c.1197T>C (p.Pro399=) c.549T>C (p.Pro183=) c.858T>C (p.Pro286=) c.222T>C (p.Pro74=) | |
| 3 | g.10375556A>T | CA432441793 | ATP2B2 | c.1155T>A (p.Pro385=) c.1257T>A (p.Pro419=) c.1290T>A (p.Pro430=) c.1197T>A (p.Pro399=) c.549T>A (p.Pro183=) c.858T>A (p.Pro286=) c.222T>A (p.Pro74=) | |
| 3 | g.10375557G>A | CA351784501 | ATP2B2 | c.1154C>T (p.Pro385Leu) c.1256C>T (p.Pro419Leu) c.1289C>T (p.Pro430Leu) c.1196C>T (p.Pro399Leu) c.548C>T (p.Pro183Leu) c.857C>T (p.Pro286Leu) c.221C>T (p.Pro74Leu) | |
| 3 | g.10375557G>C | CA351784503 | ATP2B2 | c.1154C>G (p.Pro385Arg) c.1256C>G (p.Pro419Arg) c.1289C>G (p.Pro430Arg) c.1196C>G (p.Pro399Arg) c.548C>G (p.Pro183Arg) c.857C>G (p.Pro286Arg) c.221C>G (p.Pro74Arg) | |
| 3 | g.10375557G>T | CA351784502 | ATP2B2 | c.1154C>A (p.Pro385His) c.1256C>A (p.Pro419His) c.1289C>A (p.Pro430His) c.1196C>A (p.Pro399His) c.548C>A (p.Pro183His) c.857C>A (p.Pro286His) c.221C>A (p.Pro74His) | |
| 3 | g.10375558G>A | CA351784504 | ATP2B2 | c.1153C>T (p.Pro385Ser) c.1255C>T (p.Pro419Ser) c.1288C>T (p.Pro430Ser) c.1195C>T (p.Pro399Ser) c.547C>T (p.Pro183Ser) c.856C>T (p.Pro286Ser) c.220C>T (p.Pro74Ser) | gnomAD v4 |
| 3 | g.10375558G>C | CA351784506 | ATP2B2 | c.1153C>G (p.Pro385Ala) c.1255C>G (p.Pro419Ala) c.1288C>G (p.Pro430Ala) c.1195C>G (p.Pro399Ala) c.547C>G (p.Pro183Ala) c.856C>G (p.Pro286Ala) c.220C>G (p.Pro74Ala) | |
| 3 | g.10375558G>T | CA351784505 | ATP2B2 | c.1153C>A (p.Pro385Thr) c.1255C>A (p.Pro419Thr) c.1288C>A (p.Pro430Thr) c.1195C>A (p.Pro399Thr) c.547C>A (p.Pro183Thr) c.856C>A (p.Pro286Thr) c.220C>A (p.Pro74Thr) | |
| 3 | g.10375559C>A | CA432441799 | ATP2B2 | c.1152G>T (p.Leu384=) c.1254G>T (p.Leu418=) c.1287G>T (p.Leu429=) c.1194G>T (p.Leu398=) c.546G>T (p.Leu182=) c.855G>T (p.Leu285=) c.219G>T (p.Leu73=) | |
| 3 | g.10375559C>G | CA432441801 | ATP2B2 | c.1152G>C (p.Leu384=) c.1254G>C (p.Leu418=) c.1287G>C (p.Leu429=) c.1194G>C (p.Leu398=) c.546G>C (p.Leu182=) c.855G>C (p.Leu285=) c.219G>C (p.Leu73=) | |
| 3 | g.10375559C>T | CA432441803 | ATP2B2 | c.1152G>A (p.Leu384=) c.1254G>A (p.Leu418=) c.1287G>A (p.Leu429=) c.1194G>A (p.Leu398=) c.546G>A (p.Leu182=) c.855G>A (p.Leu285=) c.219G>A (p.Leu73=) | |
| 3 | g.10375560A>C | CA351784507 | ATP2B2 | c.1151T>G (p.Leu384Arg) c.1253T>G (p.Leu418Arg) c.1286T>G (p.Leu429Arg) c.1193T>G (p.Leu398Arg) c.545T>G (p.Leu182Arg) c.854T>G (p.Leu285Arg) c.218T>G (p.Leu73Arg) | |
| 3 | g.10375560A>G | CA351784508 | ATP2B2 | c.1151T>C (p.Leu384Pro) c.1253T>C (p.Leu418Pro) c.1286T>C (p.Leu429Pro) c.1193T>C (p.Leu398Pro) c.545T>C (p.Leu182Pro) c.854T>C (p.Leu285Pro) c.218T>C (p.Leu73Pro) | |
| 3 | g.10375560A>T | CA351784509 | ATP2B2 | c.1151T>A (p.Leu384Gln) c.1253T>A (p.Leu418Gln) c.1286T>A (p.Leu429Gln) c.1193T>A (p.Leu398Gln) c.545T>A (p.Leu182Gln) c.854T>A (p.Leu285Gln) c.218T>A (p.Leu73Gln) | |
| 3 | g.10375561G>A | CA432441807 | ATP2B2 | c.1150C>T (p.Leu384=) c.1252C>T (p.Leu418=) c.1285C>T (p.Leu429=) c.1192C>T (p.Leu398=) c.544C>T (p.Leu182=) c.853C>T (p.Leu285=) c.217C>T (p.Leu73=) | |
| 3 | g.10375561G>C | CA351784510 | ATP2B2 | c.1150C>G (p.Leu384Val) c.1252C>G (p.Leu418Val) c.1285C>G (p.Leu429Val) c.1192C>G (p.Leu398Val) c.544C>G (p.Leu182Val) c.853C>G (p.Leu285Val) c.217C>G (p.Leu73Val) | ClinVar |
| 3 | g.10375561G>T | CA351784511 | ATP2B2 | c.1150C>A (p.Leu384Met) c.1252C>A (p.Leu418Met) c.1285C>A (p.Leu429Met) c.1192C>A (p.Leu398Met) c.544C>A (p.Leu182Met) c.853C>A (p.Leu285Met) c.217C>A (p.Leu73Met) | |
| 3 | g.10375562C>A | CA351784512 | ATP2B2 | c.1149G>T (p.Trp383Cys) c.1251G>T (p.Trp417Cys) c.1284G>T (p.Trp428Cys) c.1191G>T (p.Trp397Cys) c.543G>T (p.Trp181Cys) c.852G>T (p.Trp284Cys) c.216G>T (p.Trp72Cys) | |
| 3 | g.10375562C>G | CA351784513 | ATP2B2 | c.1149G>C (p.Trp383Cys) c.1251G>C (p.Trp417Cys) c.1284G>C (p.Trp428Cys) c.1191G>C (p.Trp397Cys) c.543G>C (p.Trp181Cys) c.852G>C (p.Trp284Cys) c.216G>C (p.Trp72Cys) | |
| 3 | g.10375562C>T | CA351784514 | ATP2B2 | c.1149G>A (p.Trp383Ter) c.1251G>A (p.Trp417Ter) c.1284G>A (p.Trp428Ter) c.1191G>A (p.Trp397Ter) c.543G>A (p.Trp181Ter) c.852G>A (p.Trp284Ter) c.216G>A (p.Trp72Ter) | |
| 3 | g.10375563C>A | CA351784515 | ATP2B2 | c.1148G>T (p.Trp383Leu) c.1250G>T (p.Trp417Leu) c.1283G>T (p.Trp428Leu) c.1190G>T (p.Trp397Leu) c.542G>T (p.Trp181Leu) c.851G>T (p.Trp284Leu) c.215G>T (p.Trp72Leu) | |
| 3 | g.10375563C>G | CA351784516 | ATP2B2 | c.1148G>C (p.Trp383Ser) c.1250G>C (p.Trp417Ser) c.1283G>C (p.Trp428Ser) c.1190G>C (p.Trp397Ser) c.542G>C (p.Trp181Ser) c.851G>C (p.Trp284Ser) c.215G>C (p.Trp72Ser) | |
| 3 | g.10375563C>T | CA351784517 | ATP2B2 | c.1148G>A (p.Trp383Ter) c.1250G>A (p.Trp417Ter) c.1283G>A (p.Trp428Ter) c.1190G>A (p.Trp397Ter) c.542G>A (p.Trp181Ter) c.851G>A (p.Trp284Ter) c.215G>A (p.Trp72Ter) | |
| 3 | g.10375564A>C | CA351784518 | ATP2B2 | c.1147T>G (p.Trp383Gly) c.1249T>G (p.Trp417Gly) c.1282T>G (p.Trp428Gly) c.1189T>G (p.Trp397Gly) c.541T>G (p.Trp181Gly) c.850T>G (p.Trp284Gly) c.214T>G (p.Trp72Gly) | |
| 3 | g.10375564A>G | CA351784520 | ATP2B2 | c.1147T>C (p.Trp383Arg) c.1249T>C (p.Trp417Arg) c.1282T>C (p.Trp428Arg) c.1189T>C (p.Trp397Arg) c.541T>C (p.Trp181Arg) c.850T>C (p.Trp284Arg) c.214T>C (p.Trp72Arg) | |
| 3 | g.10375564A>T | CA351784519 | ATP2B2 | c.1147T>A (p.Trp383Arg) c.1249T>A (p.Trp417Arg) c.1282T>A (p.Trp428Arg) c.1189T>A (p.Trp397Arg) c.541T>A (p.Trp181Arg) c.850T>A (p.Trp284Arg) c.214T>A (p.Trp72Arg) | |
| 3 | g.10375565C>A | CA432441817 | ATP2B2 | c.1146G>T (p.Pro382=) c.1248G>T (p.Pro416=) c.1281G>T (p.Pro427=) c.1188G>T (p.Pro396=) c.540G>T (p.Pro180=) c.849G>T (p.Pro283=) c.213G>T (p.Pro71=) | |
| 3 | g.10375565C= | CA1345182460 | ATP2B2 | c.1146G= (p.Pro382=) c.1248G= (p.Pro416=) c.1281G= (p.Pro427=) c.1188G= (p.Pro396=) c.540G= (p.Pro180=) c.849G= (p.Pro283=) c.213G= (p.Pro71=) | |
| 3 | g.10375565C>G | CA432441818 | ATP2B2 | c.1146G>C (p.Pro382=) c.1248G>C (p.Pro416=) c.1281G>C (p.Pro427=) c.1188G>C (p.Pro396=) c.540G>C (p.Pro180=) c.849G>C (p.Pro283=) c.213G>C (p.Pro71=) | |
| 3 | g.10375565C>T | CA2253704 | ATP2B2 | c.1146G>A (p.Pro382=) c.1248G>A (p.Pro416=) c.1281G>A (p.Pro427=) c.1188G>A (p.Pro396=) c.540G>A (p.Pro180=) c.849G>A (p.Pro283=) c.213G>A (p.Pro71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.10375566G>A | CA2253705 | ATP2B2 | c.1145C>T (p.Pro382Leu) c.1247C>T (p.Pro416Leu) c.1280C>T (p.Pro427Leu) c.1187C>T (p.Pro396Leu) c.539C>T (p.Pro180Leu) c.848C>T (p.Pro283Leu) c.212C>T (p.Pro71Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375566G>C | CA351784521 | ATP2B2 | c.1145C>G (p.Pro382Arg) c.1247C>G (p.Pro416Arg) c.1280C>G (p.Pro427Arg) c.1187C>G (p.Pro396Arg) c.539C>G (p.Pro180Arg) c.848C>G (p.Pro283Arg) c.212C>G (p.Pro71Arg) | |
| 3 | g.10375566G= | CA1345182464 | ATP2B2 | c.1145C= (p.Pro382=) c.1247C= (p.Pro416=) c.1280C= (p.Pro427=) c.1187C= (p.Pro396=) c.539C= (p.Pro180=) c.848C= (p.Pro283=) c.212C= (p.Pro71=) | |
| 3 | g.10375566G>T | CA2253706 | ATP2B2 | c.1145C>A (p.Pro382Gln) c.1247C>A (p.Pro416Gln) c.1280C>A (p.Pro427Gln) c.1187C>A (p.Pro396Gln) c.539C>A (p.Pro180Gln) c.848C>A (p.Pro283Gln) c.212C>A (p.Pro71Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375567G>A | CA2253707 | ATP2B2 | c.1144C>T (p.Pro382Ser) c.1246C>T (p.Pro416Ser) c.1279C>T (p.Pro427Ser) c.1186C>T (p.Pro396Ser) c.538C>T (p.Pro180Ser) c.847C>T (p.Pro283Ser) c.211C>T (p.Pro71Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375567G>C | CA351784522 | ATP2B2 | c.1144C>G (p.Pro382Ala) c.1246C>G (p.Pro416Ala) c.1279C>G (p.Pro427Ala) c.1186C>G (p.Pro396Ala) c.538C>G (p.Pro180Ala) c.847C>G (p.Pro283Ala) c.211C>G (p.Pro71Ala) | |
| 3 | g.10375567G= | CA1345182466 | ATP2B2 | c.1144C= (p.Pro382=) c.1246C= (p.Pro416=) c.1279C= (p.Pro427=) c.1186C= (p.Pro396=) c.538C= (p.Pro180=) c.847C= (p.Pro283=) c.211C= (p.Pro71=) | |
| 3 | g.10375567G>T | CA351784523 | ATP2B2 | c.1144C>A (p.Pro382Thr) c.1246C>A (p.Pro416Thr) c.1279C>A (p.Pro427Thr) c.1186C>A (p.Pro396Thr) c.538C>A (p.Pro180Thr) c.847C>A (p.Pro283Thr) c.211C>A (p.Pro71Thr) | |
| 3 | g.10375568C>A | CA351784524 | ATP2B2 | c.1143G>T (p.Lys381Asn) c.1245G>T (p.Lys415Asn) c.1278G>T (p.Lys426Asn) c.1185G>T (p.Lys395Asn) c.537G>T (p.Lys179Asn) c.846G>T (p.Lys282Asn) c.210G>T (p.Lys70Asn) | |
| 3 | g.10375568C>G | CA351784525 | ATP2B2 | c.1143G>C (p.Lys381Asn) c.1245G>C (p.Lys415Asn) c.1278G>C (p.Lys426Asn) c.1185G>C (p.Lys395Asn) c.537G>C (p.Lys179Asn) c.846G>C (p.Lys282Asn) c.210G>C (p.Lys70Asn) | |
| 3 | g.10375568C>T | CA432441827 | ATP2B2 | c.1143G>A (p.Lys381=) c.1245G>A (p.Lys415=) c.1278G>A (p.Lys426=) c.1185G>A (p.Lys395=) c.537G>A (p.Lys179=) c.846G>A (p.Lys282=) c.210G>A (p.Lys70=) | |
| 3 | g.10375569T>A | CA351784527 | ATP2B2 | c.1142A>T (p.Lys381Met) c.1244A>T (p.Lys415Met) c.1277A>T (p.Lys426Met) c.1184A>T (p.Lys395Met) c.536A>T (p.Lys179Met) c.845A>T (p.Lys282Met) c.209A>T (p.Lys70Met) | |
| 3 | g.10375569T>C | CA351784528 | ATP2B2 | c.1142A>G (p.Lys381Arg) c.1244A>G (p.Lys415Arg) c.1277A>G (p.Lys426Arg) c.1184A>G (p.Lys395Arg) c.536A>G (p.Lys179Arg) c.845A>G (p.Lys282Arg) c.209A>G (p.Lys70Arg) | |
| 3 | g.10375569T>G | CA351784526 | ATP2B2 | c.1142A>C (p.Lys381Thr) c.1244A>C (p.Lys415Thr) c.1277A>C (p.Lys426Thr) c.1184A>C (p.Lys395Thr) c.536A>C (p.Lys179Thr) c.845A>C (p.Lys282Thr) c.209A>C (p.Lys70Thr) | |
| 3 | g.10375570T>A | CA351784529 | ATP2B2 | c.1141A>T (p.Lys381Ter) c.1243A>T (p.Lys415Ter) c.1276A>T (p.Lys426Ter) c.1183A>T (p.Lys395Ter) c.535A>T (p.Lys179Ter) c.844A>T (p.Lys282Ter) c.208A>T (p.Lys70Ter) | |
| 3 | g.10375570T>C | CA351784530 | ATP2B2 | c.1141A>G (p.Lys381Glu) c.1243A>G (p.Lys415Glu) c.1276A>G (p.Lys426Glu) c.1183A>G (p.Lys395Glu) c.535A>G (p.Lys179Glu) c.844A>G (p.Lys282Glu) c.208A>G (p.Lys70Glu) | |
| 3 | g.10375570T>G | CA351784531 | ATP2B2 | c.1141A>C (p.Lys381Gln) c.1243A>C (p.Lys415Gln) c.1276A>C (p.Lys426Gln) c.1183A>C (p.Lys395Gln) c.535A>C (p.Lys179Gln) c.844A>C (p.Lys282Gln) c.208A>C (p.Lys70Gln) | |
| 3 | g.10375571C>A | CA351784532 | ATP2B2 | c.1140G>T (p.Lys380Asn) c.1242G>T (p.Lys414Asn) c.1275G>T (p.Lys425Asn) c.1182G>T (p.Lys394Asn) c.534G>T (p.Lys178Asn) c.843G>T (p.Lys281Asn) c.207G>T (p.Lys69Asn) | |
| 3 | g.10375571C>G | CA351784533 | ATP2B2 | c.1140G>C (p.Lys380Asn) c.1242G>C (p.Lys414Asn) c.1275G>C (p.Lys425Asn) c.1182G>C (p.Lys394Asn) c.534G>C (p.Lys178Asn) c.843G>C (p.Lys281Asn) c.207G>C (p.Lys69Asn) | |
| 3 | g.10375571C>T | CA432441835 | ATP2B2 | c.1140G>A (p.Lys380=) c.1242G>A (p.Lys414=) c.1275G>A (p.Lys425=) c.1182G>A (p.Lys394=) c.534G>A (p.Lys178=) c.843G>A (p.Lys281=) c.207G>A (p.Lys69=) | |
| 3 | g.10375572T>A | CA351784536 | ATP2B2 | c.1139A>T (p.Lys380Met) c.1241A>T (p.Lys414Met) c.1274A>T (p.Lys425Met) c.1181A>T (p.Lys394Met) c.533A>T (p.Lys178Met) c.842A>T (p.Lys281Met) c.206A>T (p.Lys69Met) | |
| 3 | g.10375572T>C | CA351784534 | ATP2B2 | c.1139A>G (p.Lys380Arg) c.1241A>G (p.Lys414Arg) c.1274A>G (p.Lys425Arg) c.1181A>G (p.Lys394Arg) c.533A>G (p.Lys178Arg) c.842A>G (p.Lys281Arg) c.206A>G (p.Lys69Arg) | gnomAD v4 |
| 3 | g.10375572T>G | CA351784535 | ATP2B2 | c.1139A>C (p.Lys380Thr) c.1241A>C (p.Lys414Thr) c.1274A>C (p.Lys425Thr) c.1181A>C (p.Lys394Thr) c.533A>C (p.Lys178Thr) c.842A>C (p.Lys281Thr) c.206A>C (p.Lys69Thr) | |
| 3 | g.10375573T>A | CA351784537 | ATP2B2 | c.1138A>T (p.Lys380Ter) c.1240A>T (p.Lys414Ter) c.1273A>T (p.Lys425Ter) c.1180A>T (p.Lys394Ter) c.532A>T (p.Lys178Ter) c.841A>T (p.Lys281Ter) c.205A>T (p.Lys69Ter) | |
| 3 | g.10375573T>C | CA351784538 | ATP2B2 | c.1138A>G (p.Lys380Glu) c.1240A>G (p.Lys414Glu) c.1273A>G (p.Lys425Glu) c.1180A>G (p.Lys394Glu) c.532A>G (p.Lys178Glu) c.841A>G (p.Lys281Glu) c.205A>G (p.Lys69Glu) | |
| 3 | g.10375573T>G | CA351784539 | ATP2B2 | c.1138A>C (p.Lys380Gln) c.1240A>C (p.Lys414Gln) c.1273A>C (p.Lys425Gln) c.1180A>C (p.Lys394Gln) c.532A>C (p.Lys178Gln) c.841A>C (p.Lys281Gln) c.205A>C (p.Lys69Gln) | dbSNP |
| 3 | g.10375573T= | CA1345182469 | ATP2B2 | c.1138A= (p.Lys380=) c.1240A= (p.Lys414=) c.1273A= (p.Lys425=) c.1180A= (p.Lys394=) c.532A= (p.Lys178=) c.841A= (p.Lys281=) c.205A= (p.Lys69=) | |
| 3 | g.10375574G>A | CA70116339 | ATP2B2 | c.1137C>T (p.Asn379=) c.1239C>T (p.Asn413=) c.1272C>T (p.Asn424=) c.1179C>T (p.Asn393=) c.531C>T (p.Asn177=) c.840C>T (p.Asn280=) c.204C>T (p.Asn68=) | dbSNP gnomAD v4 |
| 3 | g.10375574G>C | CA351784540 | ATP2B2 | c.1137C>G (p.Asn379Lys) c.1239C>G (p.Asn413Lys) c.1272C>G (p.Asn424Lys) c.1179C>G (p.Asn393Lys) c.531C>G (p.Asn177Lys) c.840C>G (p.Asn280Lys) c.204C>G (p.Asn68Lys) | |
| 3 | g.10375574G= | CA1345182470 | ATP2B2 | c.1137C= (p.Asn379=) c.1239C= (p.Asn413=) c.1272C= (p.Asn424=) c.1179C= (p.Asn393=) c.531C= (p.Asn177=) c.840C= (p.Asn280=) c.204C= (p.Asn68=) | |
| 3 | g.10375574G>T | CA351784541 | ATP2B2 | c.1137C>A (p.Asn379Lys) c.1239C>A (p.Asn413Lys) c.1272C>A (p.Asn424Lys) c.1179C>A (p.Asn393Lys) c.531C>A (p.Asn177Lys) c.840C>A (p.Asn280Lys) c.204C>A (p.Asn68Lys) | dbSNP |
| 3 | g.10375575T>A | CA351784542 | ATP2B2 | c.1136A>T (p.Asn379Ile) c.1238A>T (p.Asn413Ile) c.1271A>T (p.Asn424Ile) c.1178A>T (p.Asn393Ile) c.530A>T (p.Asn177Ile) c.839A>T (p.Asn280Ile) c.203A>T (p.Asn68Ile) | |
| 3 | g.10375575T>C | CA351784544 | ATP2B2 | c.1136A>G (p.Asn379Ser) c.1238A>G (p.Asn413Ser) c.1271A>G (p.Asn424Ser) c.1178A>G (p.Asn393Ser) c.530A>G (p.Asn177Ser) c.839A>G (p.Asn280Ser) c.203A>G (p.Asn68Ser) | gnomAD v4 |
| 3 | g.10375575T>G | CA351784543 | ATP2B2 | c.1136A>C (p.Asn379Thr) c.1238A>C (p.Asn413Thr) c.1271A>C (p.Asn424Thr) c.1178A>C (p.Asn393Thr) c.530A>C (p.Asn177Thr) c.839A>C (p.Asn280Thr) c.203A>C (p.Asn68Thr) | |
| 3 | g.10375576T>A | CA351784545 | ATP2B2 | c.1135A>T (p.Asn379Tyr) c.1237A>T (p.Asn413Tyr) c.1270A>T (p.Asn424Tyr) c.1177A>T (p.Asn393Tyr) c.529A>T (p.Asn177Tyr) c.838A>T (p.Asn280Tyr) c.202A>T (p.Asn68Tyr) | |
| 3 | g.10375576T>C | CA351784546 | ATP2B2 | c.1135A>G (p.Asn379Asp) c.1237A>G (p.Asn413Asp) c.1270A>G (p.Asn424Asp) c.1177A>G (p.Asn393Asp) c.529A>G (p.Asn177Asp) c.838A>G (p.Asn280Asp) c.202A>G (p.Asn68Asp) | |
| 3 | g.10375576T>G | CA351784547 | ATP2B2 | c.1135A>C (p.Asn379His) c.1237A>C (p.Asn413His) c.1270A>C (p.Asn424His) c.1177A>C (p.Asn393His) c.529A>C (p.Asn177His) c.838A>C (p.Asn280His) c.202A>C (p.Asn68His) | |
| 3 | g.10375577G>A | CA432441849 | ATP2B2 | c.1134C>T (p.Val378=) c.1236C>T (p.Val412=) c.1269C>T (p.Val423=) c.1176C>T (p.Val392=) c.528C>T (p.Val176=) c.837C>T (p.Val279=) c.201C>T (p.Val67=) | gnomAD v4 |
| 3 | g.10375577G>C | CA432441851 | ATP2B2 | c.1134C>G (p.Val378=) c.1236C>G (p.Val412=) c.1269C>G (p.Val423=) c.1176C>G (p.Val392=) c.528C>G (p.Val176=) c.837C>G (p.Val279=) c.201C>G (p.Val67=) | |
| 3 | g.10375577G>T | CA432441852 | ATP2B2 | c.1134C>A (p.Val378=) c.1236C>A (p.Val412=) c.1269C>A (p.Val423=) c.1176C>A (p.Val392=) c.528C>A (p.Val176=) c.837C>A (p.Val279=) c.201C>A (p.Val67=) | |
| 3 | g.10375578A>C | CA351784548 | ATP2B2 | c.1133T>G (p.Val378Gly) c.1235T>G (p.Val412Gly) c.1268T>G (p.Val423Gly) c.1175T>G (p.Val392Gly) c.527T>G (p.Val176Gly) c.836T>G (p.Val279Gly) c.200T>G (p.Val67Gly) | |
| 3 | g.10375578A>G | CA351784549 | ATP2B2 | c.1133T>C (p.Val378Ala) c.1235T>C (p.Val412Ala) c.1268T>C (p.Val423Ala) c.1175T>C (p.Val392Ala) c.527T>C (p.Val176Ala) c.836T>C (p.Val279Ala) c.200T>C (p.Val67Ala) | |
| 3 | g.10375578A>T | CA351784550 | ATP2B2 | c.1133T>A (p.Val378Asp) c.1235T>A (p.Val412Asp) c.1268T>A (p.Val423Asp) c.1175T>A (p.Val392Asp) c.527T>A (p.Val176Asp) c.836T>A (p.Val279Asp) c.200T>A (p.Val67Asp) | |
| 3 | g.10375579C>A | CA351784551 | ATP2B2 | c.1132G>T (p.Val378Phe) c.1234G>T (p.Val412Phe) c.1267G>T (p.Val423Phe) c.1174G>T (p.Val392Phe) c.526G>T (p.Val176Phe) c.835G>T (p.Val279Phe) c.199G>T (p.Val67Phe) | |
| 3 | g.10375579C>G | CA351784552 | ATP2B2 | c.1132G>C (p.Val378Leu) c.1234G>C (p.Val412Leu) c.1267G>C (p.Val423Leu) c.1174G>C (p.Val392Leu) c.526G>C (p.Val176Leu) c.835G>C (p.Val279Leu) c.199G>C (p.Val67Leu) | |
| 3 | g.10375579C>T | CA351784553 | ATP2B2 | c.1132G>A (p.Val378Ile) c.1234G>A (p.Val412Ile) c.1267G>A (p.Val423Ile) c.1174G>A (p.Val392Ile) c.526G>A (p.Val176Ile) c.835G>A (p.Val279Ile) c.199G>A (p.Val67Ile) | |
| 3 | g.10375580C>A | CA432441858 | ATP2B2 | c.1131G>T (p.Val377=) c.1233G>T (p.Val411=) c.1266G>T (p.Val422=) c.1173G>T (p.Val391=) c.525G>T (p.Val175=) c.834G>T (p.Val278=) c.198G>T (p.Val66=) | |
| 3 | g.10375580C>G | CA432441862 | ATP2B2 | c.1131G>C (p.Val377=) c.1233G>C (p.Val411=) c.1266G>C (p.Val422=) c.1173G>C (p.Val391=) c.525G>C (p.Val175=) c.834G>C (p.Val278=) c.198G>C (p.Val66=) | |
| 3 | g.10375580C>T | CA432441860 | ATP2B2 | c.1131G>A (p.Val377=) c.1233G>A (p.Val411=) c.1266G>A (p.Val422=) c.1173G>A (p.Val391=) c.525G>A (p.Val175=) c.834G>A (p.Val278=) c.198G>A (p.Val66=) | |
| 3 | g.10375581A= | CA1345182472 | ATP2B2 | c.1130T= (p.Val377=) c.1232T= (p.Val411=) c.1265T= (p.Val422=) c.1172T= (p.Val391=) c.524T= (p.Val175=) c.833T= (p.Val278=) c.197T= (p.Val66=) | |
| 3 | g.10375581A>C | CA351784554 | ATP2B2 | c.1130T>G (p.Val377Gly) c.1232T>G (p.Val411Gly) c.1265T>G (p.Val422Gly) c.1172T>G (p.Val391Gly) c.524T>G (p.Val175Gly) c.833T>G (p.Val278Gly) c.197T>G (p.Val66Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375581A>G | CA351784555 | ATP2B2 | c.1130T>C (p.Val377Ala) c.1232T>C (p.Val411Ala) c.1265T>C (p.Val422Ala) c.1172T>C (p.Val391Ala) c.524T>C (p.Val175Ala) c.833T>C (p.Val278Ala) c.197T>C (p.Val66Ala) | |
| 3 | g.10375581A>T | CA351784556 | ATP2B2 | c.1130T>A (p.Val377Glu) c.1232T>A (p.Val411Glu) c.1265T>A (p.Val422Glu) c.1172T>A (p.Val391Glu) c.524T>A (p.Val175Glu) c.833T>A (p.Val278Glu) c.197T>A (p.Val66Glu) | |
| 3 | g.10375582C>A | CA351784557 | ATP2B2 | c.1129G>T (p.Val377Leu) c.1231G>T (p.Val411Leu) c.1264G>T (p.Val422Leu) c.1171G>T (p.Val391Leu) c.523G>T (p.Val175Leu) c.832G>T (p.Val278Leu) c.196G>T (p.Val66Leu) | |
| 3 | g.10375582C= | CA1345182473 | ATP2B2 | c.1129G= (p.Val377=) c.1231G= (p.Val411=) c.1264G= (p.Val422=) c.1171G= (p.Val391=) c.523G= (p.Val175=) c.832G= (p.Val278=) c.196G= (p.Val66=) | |
| 3 | g.10375582C>G | CA351784558 | ATP2B2 | c.1129G>C (p.Val377Leu) c.1231G>C (p.Val411Leu) c.1264G>C (p.Val422Leu) c.1171G>C (p.Val391Leu) c.523G>C (p.Val175Leu) c.832G>C (p.Val278Leu) c.196G>C (p.Val66Leu) | |
| 3 | g.10375582C>T | CA2253708 | ATP2B2 | c.1129G>A (p.Val377Met) c.1231G>A (p.Val411Met) c.1264G>A (p.Val422Met) c.1171G>A (p.Val391Met) c.523G>A (p.Val175Met) c.832G>A (p.Val278Met) c.196G>A (p.Val66Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.10375583G>A | CA432441867 | ATP2B2 | c.1128C>T (p.Phe376=) c.1230C>T (p.Phe410=) c.1263C>T (p.Phe421=) c.1170C>T (p.Phe390=) c.522C>T (p.Phe174=) c.831C>T (p.Phe277=) c.195C>T (p.Phe65=) | gnomAD v4 COSMIC COSMIC |
| 3 | g.10375583G>C | CA351784560 | ATP2B2 | c.1128C>G (p.Phe376Leu) c.1230C>G (p.Phe410Leu) c.1263C>G (p.Phe421Leu) c.1170C>G (p.Phe390Leu) c.522C>G (p.Phe174Leu) c.831C>G (p.Phe277Leu) c.195C>G (p.Phe65Leu) | |
| 3 | g.10375583G>T | CA351784559 | ATP2B2 | c.1128C>A (p.Phe376Leu) c.1230C>A (p.Phe410Leu) c.1263C>A (p.Phe421Leu) c.1170C>A (p.Phe390Leu) c.522C>A (p.Phe174Leu) c.831C>A (p.Phe277Leu) c.195C>A (p.Phe65Leu) | |
| 3 | g.10375584A>C | CA351784561 | ATP2B2 | c.1127T>G (p.Phe376Cys) c.1229T>G (p.Phe410Cys) c.1262T>G (p.Phe421Cys) c.1169T>G (p.Phe390Cys) c.521T>G (p.Phe174Cys) c.830T>G (p.Phe277Cys) c.194T>G (p.Phe65Cys) | |
| 3 | g.10375584A>G | CA351784562 | ATP2B2 | c.1127T>C (p.Phe376Ser) c.1229T>C (p.Phe410Ser) c.1262T>C (p.Phe421Ser) c.1169T>C (p.Phe390Ser) c.521T>C (p.Phe174Ser) c.830T>C (p.Phe277Ser) c.194T>C (p.Phe65Ser) | |
| 3 | g.10375584A>T | CA351784563 | ATP2B2 | c.1127T>A (p.Phe376Tyr) c.1229T>A (p.Phe410Tyr) c.1262T>A (p.Phe421Tyr) c.1169T>A (p.Phe390Tyr) c.521T>A (p.Phe174Tyr) c.830T>A (p.Phe277Tyr) c.194T>A (p.Phe65Tyr) | |
| 3 | g.10375585A>C | CA351784564 | ATP2B2 | c.1126T>G (p.Phe376Val) c.1228T>G (p.Phe410Val) c.1261T>G (p.Phe421Val) c.1168T>G (p.Phe390Val) c.520T>G (p.Phe174Val) c.829T>G (p.Phe277Val) c.193T>G (p.Phe65Val) | |
| 3 | g.10375585A>G | CA351784565 | ATP2B2 | c.1126T>C (p.Phe376Leu) c.1228T>C (p.Phe410Leu) c.1261T>C (p.Phe421Leu) c.1168T>C (p.Phe390Leu) c.520T>C (p.Phe174Leu) c.829T>C (p.Phe277Leu) c.193T>C (p.Phe65Leu) | |
| 3 | g.10375585A>T | CA351784566 | ATP2B2 | c.1126T>A (p.Phe376Ile) c.1228T>A (p.Phe410Ile) c.1261T>A (p.Phe421Ile) c.1168T>A (p.Phe390Ile) c.520T>A (p.Phe174Ile) c.829T>A (p.Phe277Ile) c.193T>A (p.Phe65Ile) | |
| 3 | g.10375586G>A | CA432441874 | ATP2B2 | c.1125C>T (p.Thr375=) c.1227C>T (p.Thr409=) c.1260C>T (p.Thr420=) c.1167C>T (p.Thr389=) c.519C>T (p.Thr173=) c.828C>T (p.Thr276=) c.192C>T (p.Thr64=) | COSMIC COSMIC |
| 3 | g.10375586G>C | CA432441876 | ATP2B2 | c.1125C>G (p.Thr375=) c.1227C>G (p.Thr409=) c.1260C>G (p.Thr420=) c.1167C>G (p.Thr389=) c.519C>G (p.Thr173=) c.828C>G (p.Thr276=) c.192C>G (p.Thr64=) | |
| 3 | g.10375586G>T | CA432441875 | ATP2B2 | c.1125C>A (p.Thr375=) c.1227C>A (p.Thr409=) c.1260C>A (p.Thr420=) c.1167C>A (p.Thr389=) c.519C>A (p.Thr173=) c.828C>A (p.Thr276=) c.192C>A (p.Thr64=) | |
| 3 | g.10375587G>A | CA351784567 | ATP2B2 | c.1124C>T (p.Thr375Ile) c.1226C>T (p.Thr409Ile) c.1259C>T (p.Thr420Ile) c.1166C>T (p.Thr389Ile) c.518C>T (p.Thr173Ile) c.827C>T (p.Thr276Ile) c.191C>T (p.Thr64Ile) | gnomAD v4 |
| 3 | g.10375587G>C | CA351784568 | ATP2B2 | c.1124C>G (p.Thr375Ser) c.1226C>G (p.Thr409Ser) c.1259C>G (p.Thr420Ser) c.1166C>G (p.Thr389Ser) c.518C>G (p.Thr173Ser) c.827C>G (p.Thr276Ser) c.191C>G (p.Thr64Ser) | |
| 3 | g.10375587G= | CA1345182476 | ATP2B2 | c.1124C= (p.Thr375=) c.1226C= (p.Thr409=) c.1259C= (p.Thr420=) c.1166C= (p.Thr389=) c.518C= (p.Thr173=) c.827C= (p.Thr276=) c.191C= (p.Thr64=) | |
| 3 | g.10375587G>T | CA351784569 | ATP2B2 | c.1124C>A (p.Thr375Asn) c.1226C>A (p.Thr409Asn) c.1259C>A (p.Thr420Asn) c.1166C>A (p.Thr389Asn) c.518C>A (p.Thr173Asn) c.827C>A (p.Thr276Asn) c.191C>A (p.Thr64Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375588T>A | CA2253709 | ATP2B2 | c.1123A>T (p.Thr375Ser) c.1225A>T (p.Thr409Ser) c.1258A>T (p.Thr420Ser) c.1165A>T (p.Thr389Ser) c.517A>T (p.Thr173Ser) c.826A>T (p.Thr276Ser) c.190A>T (p.Thr64Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375588T>C | CA351784570 | ATP2B2 | c.1123A>G (p.Thr375Ala) c.1225A>G (p.Thr409Ala) c.1258A>G (p.Thr420Ala) c.1165A>G (p.Thr389Ala) c.517A>G (p.Thr173Ala) c.826A>G (p.Thr276Ala) c.190A>G (p.Thr64Ala) | |
| 3 | g.10375588T>G | CA351784571 | ATP2B2 | c.1123A>C (p.Thr375Pro) c.1225A>C (p.Thr409Pro) c.1258A>C (p.Thr420Pro) c.1165A>C (p.Thr389Pro) c.517A>C (p.Thr173Pro) c.826A>C (p.Thr276Pro) c.190A>C (p.Thr64Pro) | dbSNP |
| 3 | g.10375588T= | CA1345182478 | ATP2B2 | c.1123A= (p.Thr375=) c.1225A= (p.Thr409=) c.1258A= (p.Thr420=) c.1165A= (p.Thr389=) c.517A= (p.Thr173=) c.826A= (p.Thr276=) c.190A= (p.Thr64=) | |
| 3 | g.10375589G>A | CA432441883 | ATP2B2 | c.1122C>T (p.Asp374=) c.1224C>T (p.Asp408=) c.1257C>T (p.Asp419=) c.1164C>T (p.Asp388=) c.516C>T (p.Asp172=) c.825C>T (p.Asp275=) c.189C>T (p.Asp63=) | gnomAD v4 |
| 3 | g.10375589G>C | CA351784572 | ATP2B2 | c.1122C>G (p.Asp374Glu) c.1224C>G (p.Asp408Glu) c.1257C>G (p.Asp419Glu) c.1164C>G (p.Asp388Glu) c.516C>G (p.Asp172Glu) c.825C>G (p.Asp275Glu) c.189C>G (p.Asp63Glu) | |
| 3 | g.10375589G>T | CA351784573 | ATP2B2 | c.1122C>A (p.Asp374Glu) c.1224C>A (p.Asp408Glu) c.1257C>A (p.Asp419Glu) c.1164C>A (p.Asp388Glu) c.516C>A (p.Asp172Glu) c.825C>A (p.Asp275Glu) c.189C>A (p.Asp63Glu) | |
| 3 | g.10375590T>A | CA351784574 | ATP2B2 | c.1121A>T (p.Asp374Val) c.1223A>T (p.Asp408Val) c.1256A>T (p.Asp419Val) c.1163A>T (p.Asp388Val) c.515A>T (p.Asp172Val) c.824A>T (p.Asp275Val) c.188A>T (p.Asp63Val) | |
| 3 | g.10375590T>C | CA351784575 | ATP2B2 | c.1121A>G (p.Asp374Gly) c.1223A>G (p.Asp408Gly) c.1256A>G (p.Asp419Gly) c.1163A>G (p.Asp388Gly) c.515A>G (p.Asp172Gly) c.824A>G (p.Asp275Gly) c.188A>G (p.Asp63Gly) | |
| 3 | g.10375590T>G | CA351784576 | ATP2B2 | c.1121A>C (p.Asp374Ala) c.1223A>C (p.Asp408Ala) c.1256A>C (p.Asp419Ala) c.1163A>C (p.Asp388Ala) c.515A>C (p.Asp172Ala) c.824A>C (p.Asp275Ala) c.188A>C (p.Asp63Ala) | |
| 3 | g.10375591C>A | CA351784577 | ATP2B2 | c.1120G>T (p.Asp374Tyr) c.1222G>T (p.Asp408Tyr) c.1255G>T (p.Asp419Tyr) c.1162G>T (p.Asp388Tyr) c.514G>T (p.Asp172Tyr) c.823G>T (p.Asp275Tyr) c.187G>T (p.Asp63Tyr) | |
| 3 | g.10375591C>G | CA351784578 | ATP2B2 | c.1120G>C (p.Asp374His) c.1222G>C (p.Asp408His) c.1255G>C (p.Asp419His) c.1162G>C (p.Asp388His) c.514G>C (p.Asp172His) c.823G>C (p.Asp275His) c.187G>C (p.Asp63His) | |
| 3 | g.10375591C>T | CA351784579 | ATP2B2 | c.1120G>A (p.Asp374Asn) c.1222G>A (p.Asp408Asn) c.1255G>A (p.Asp419Asn) c.1162G>A (p.Asp388Asn) c.514G>A (p.Asp172Asn) c.823G>A (p.Asp275Asn) c.187G>A (p.Asp63Asn) | gnomAD v4 COSMIC COSMIC |
| 3 | g.10375592C>A | CA432441891 | ATP2B2 | c.1119G>T (p.Val373=) c.1221G>T (p.Val407=) c.1254G>T (p.Val418=) c.1161G>T (p.Val387=) c.513G>T (p.Val171=) c.822G>T (p.Val274=) c.186G>T (p.Val62=) | |
| 3 | g.10375592C>G | CA432441893 | ATP2B2 | c.1119G>C (p.Val373=) c.1221G>C (p.Val407=) c.1254G>C (p.Val418=) c.1161G>C (p.Val387=) c.513G>C (p.Val171=) c.822G>C (p.Val274=) c.186G>C (p.Val62=) | |
| 3 | g.10375592C>T | CA432441895 | ATP2B2 | c.1119G>A (p.Val373=) c.1221G>A (p.Val407=) c.1254G>A (p.Val418=) c.1161G>A (p.Val387=) c.513G>A (p.Val171=) c.822G>A (p.Val274=) c.186G>A (p.Val62=) | |
| 3 | g.10375593A>C | CA351784580 | ATP2B2 | c.1118T>G (p.Val373Gly) c.1220T>G (p.Val407Gly) c.1253T>G (p.Val418Gly) c.1160T>G (p.Val387Gly) c.512T>G (p.Val171Gly) c.821T>G (p.Val274Gly) c.185T>G (p.Val62Gly) | |
| 3 | g.10375593A>G | CA351784581 | ATP2B2 | c.1118T>C (p.Val373Ala) c.1220T>C (p.Val407Ala) c.1253T>C (p.Val418Ala) c.1160T>C (p.Val387Ala) c.512T>C (p.Val171Ala) c.821T>C (p.Val274Ala) c.185T>C (p.Val62Ala) | gnomAD v4 |
| 3 | g.10375593A>T | CA351784582 | ATP2B2 | c.1118T>A (p.Val373Glu) c.1220T>A (p.Val407Glu) c.1253T>A (p.Val418Glu) c.1160T>A (p.Val387Glu) c.512T>A (p.Val171Glu) c.821T>A (p.Val274Glu) c.185T>A (p.Val62Glu) | |
| 3 | g.10375594C>A | CA351784583 | ATP2B2 | c.1117G>T (p.Val373Leu) c.1219G>T (p.Val407Leu) c.1252G>T (p.Val418Leu) c.1159G>T (p.Val387Leu) c.511G>T (p.Val171Leu) c.820G>T (p.Val274Leu) c.184G>T (p.Val62Leu) | |
| 3 | g.10375594C= | CA1345182480 | ATP2B2 | c.1117G= (p.Val373=) c.1219G= (p.Val407=) c.1252G= (p.Val418=) c.1159G= (p.Val387=) c.511G= (p.Val171=) c.820G= (p.Val274=) c.184G= (p.Val62=) | |
| 3 | g.10375594C>G | CA351784584 | ATP2B2 | c.1117G>C (p.Val373Leu) c.1219G>C (p.Val407Leu) c.1252G>C (p.Val418Leu) c.1159G>C (p.Val387Leu) c.511G>C (p.Val171Leu) c.820G>C (p.Val274Leu) c.184G>C (p.Val62Leu) | |
| 3 | g.10375594C>T | CA351784585 | ATP2B2 | c.1117G>A (p.Val373Met) c.1219G>A (p.Val407Met) c.1252G>A (p.Val418Met) c.1159G>A (p.Val387Met) c.511G>A (p.Val171Met) c.820G>A (p.Val274Met) c.184G>A (p.Val62Met) | dbSNP |
| 3 | g.10375595A= | CA1345182482 | ATP2B2 | c.1116T= (p.Thr372=) c.1218T= (p.Thr406=) c.1251T= (p.Thr417=) c.1158T= (p.Thr386=) c.510T= (p.Thr170=) c.819T= (p.Thr273=) c.183T= (p.Thr61=) | |
| 3 | g.10375595A>C | CA432441902 | ATP2B2 | c.1116T>G (p.Thr372=) c.1218T>G (p.Thr406=) c.1251T>G (p.Thr417=) c.1158T>G (p.Thr386=) c.510T>G (p.Thr170=) c.819T>G (p.Thr273=) c.183T>G (p.Thr61=) | |
| 3 | g.10375595A>G | CA432441903 | ATP2B2 | c.1116T>C (p.Thr372=) c.1218T>C (p.Thr406=) c.1251T>C (p.Thr417=) c.1158T>C (p.Thr386=) c.510T>C (p.Thr170=) c.819T>C (p.Thr273=) c.183T>C (p.Thr61=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375595A>T | CA432441905 | ATP2B2 | c.1116T>A (p.Thr372=) c.1218T>A (p.Thr406=) c.1251T>A (p.Thr417=) c.1158T>A (p.Thr386=) c.510T>A (p.Thr170=) c.819T>A (p.Thr273=) c.183T>A (p.Thr61=) | |
| 3 | g.10375596G>A | CA351784587 | ATP2B2 | c.1115C>T (p.Thr372Ile) c.1217C>T (p.Thr406Ile) c.1250C>T (p.Thr417Ile) c.1157C>T (p.Thr386Ile) c.509C>T (p.Thr170Ile) c.818C>T (p.Thr273Ile) c.182C>T (p.Thr61Ile) | gnomAD v4 |
| 3 | g.10375596G>C | CA70116362 | ATP2B2 | c.1115C>G (p.Thr372Ser) c.1217C>G (p.Thr406Ser) c.1250C>G (p.Thr417Ser) c.1157C>G (p.Thr386Ser) c.509C>G (p.Thr170Ser) c.818C>G (p.Thr273Ser) c.182C>G (p.Thr61Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10375596G= | CA1345182484 | ATP2B2 | c.1115C= (p.Thr372=) c.1217C= (p.Thr406=) c.1250C= (p.Thr417=) c.1157C= (p.Thr386=) c.509C= (p.Thr170=) c.818C= (p.Thr273=) c.182C= (p.Thr61=) | |
| 3 | g.10375596G>T | CA351784586 | ATP2B2 | c.1115C>A (p.Thr372Asn) c.1217C>A (p.Thr406Asn) c.1250C>A (p.Thr417Asn) c.1157C>A (p.Thr386Asn) c.509C>A (p.Thr170Asn) c.818C>A (p.Thr273Asn) c.182C>A (p.Thr61Asn) | |
| 3 | g.10375597T>A | CA351784588 | ATP2B2 | c.1114A>T (p.Thr372Ser) c.1216A>T (p.Thr406Ser) c.1249A>T (p.Thr417Ser) c.1156A>T (p.Thr386Ser) c.508A>T (p.Thr170Ser) c.817A>T (p.Thr273Ser) c.181A>T (p.Thr61Ser) | dbSNP |
| 3 | g.10375597T>C | CA351784589 | ATP2B2 | c.1114A>G (p.Thr372Ala) c.1216A>G (p.Thr406Ala) c.1249A>G (p.Thr417Ala) c.1156A>G (p.Thr386Ala) c.508A>G (p.Thr170Ala) c.817A>G (p.Thr273Ala) c.181A>G (p.Thr61Ala) | gnomAD v4 |
| 3 | g.10375597T>G | CA351784590 | ATP2B2 | c.1114A>C (p.Thr372Pro) c.1216A>C (p.Thr406Pro) c.1249A>C (p.Thr417Pro) c.1156A>C (p.Thr386Pro) c.508A>C (p.Thr170Pro) c.817A>C (p.Thr273Pro) c.181A>C (p.Thr61Pro) | gnomAD v4 |
| 3 | g.10375597T= | CA1345182486 | ATP2B2 | c.1114A= (p.Thr372=) c.1216A= (p.Thr406=) c.1249A= (p.Thr417=) c.1156A= (p.Thr386=) c.508A= (p.Thr170=) c.817A= (p.Thr273=) c.181A= (p.Thr61=) | |
| 3 | g.10375598G>A | CA432441913 | ATP2B2 | c.1113C>T (p.Phe371=) c.1215C>T (p.Phe405=) c.1248C>T (p.Phe416=) c.1155C>T (p.Phe385=) c.507C>T (p.Phe169=) c.816C>T (p.Phe272=) c.180C>T (p.Phe60=) | |
| 3 | g.10375598G>C | CA351784591 | ATP2B2 | c.1113C>G (p.Phe371Leu) c.1215C>G (p.Phe405Leu) c.1248C>G (p.Phe416Leu) c.1155C>G (p.Phe385Leu) c.507C>G (p.Phe169Leu) c.816C>G (p.Phe272Leu) c.180C>G (p.Phe60Leu) | |
| 3 | g.10375598G>T | CA351784592 | ATP2B2 | c.1113C>A (p.Phe371Leu) c.1215C>A (p.Phe405Leu) c.1248C>A (p.Phe416Leu) c.1155C>A (p.Phe385Leu) c.507C>A (p.Phe169Leu) c.816C>A (p.Phe272Leu) c.180C>A (p.Phe60Leu) | gnomAD v4 |
| 3 | g.10375599A>C | CA351784593 | ATP2B2 | c.1112T>G (p.Phe371Cys) c.1214T>G (p.Phe405Cys) c.1247T>G (p.Phe416Cys) c.1154T>G (p.Phe385Cys) c.506T>G (p.Phe169Cys) c.815T>G (p.Phe272Cys) c.179T>G (p.Phe60Cys) | |
| 3 | g.10375599A>G | CA351784594 | ATP2B2 | c.1112T>C (p.Phe371Ser) c.1214T>C (p.Phe405Ser) c.1247T>C (p.Phe416Ser) c.1154T>C (p.Phe385Ser) c.506T>C (p.Phe169Ser) c.815T>C (p.Phe272Ser) c.179T>C (p.Phe60Ser) | |
| 3 | g.10375599A>T | CA351784595 | ATP2B2 | c.1112T>A (p.Phe371Tyr) c.1214T>A (p.Phe405Tyr) c.1247T>A (p.Phe416Tyr) c.1154T>A (p.Phe385Tyr) c.506T>A (p.Phe169Tyr) c.815T>A (p.Phe272Tyr) c.179T>A (p.Phe60Tyr) | |
| 3 | g.10375600A>C | CA351784596 | ATP2B2 | c.1111T>G (p.Phe371Val) c.1213T>G (p.Phe405Val) c.1246T>G (p.Phe416Val) c.1153T>G (p.Phe385Val) c.505T>G (p.Phe169Val) c.814T>G (p.Phe272Val) c.178T>G (p.Phe60Val) | |
| 3 | g.10375600A>G | CA351784597 | ATP2B2 | c.1111T>C (p.Phe371Leu) c.1213T>C (p.Phe405Leu) c.1246T>C (p.Phe416Leu) c.1153T>C (p.Phe385Leu) c.505T>C (p.Phe169Leu) c.814T>C (p.Phe272Leu) c.178T>C (p.Phe60Leu) | |
| 3 | g.10375600A>T | CA351784598 | ATP2B2 | c.1111T>A (p.Phe371Ile) c.1213T>A (p.Phe405Ile) c.1246T>A (p.Phe416Ile) c.1153T>A (p.Phe385Ile) c.505T>A (p.Phe169Ile) c.814T>A (p.Phe272Ile) c.178T>A (p.Phe60Ile) | |
| 3 | g.10375601G>A | CA432441921 | ATP2B2 | c.1110C>T (p.Tyr370=) c.1212C>T (p.Tyr404=) c.1245C>T (p.Tyr415=) c.1152C>T (p.Tyr384=) c.504C>T (p.Tyr168=) c.813C>T (p.Tyr271=) c.177C>T (p.Tyr59=) | COSMIC COSMIC |
| 3 | g.10375601G>C | CA351784599 | ATP2B2 | c.1110C>G (p.Tyr370Ter) c.1212C>G (p.Tyr404Ter) c.1245C>G (p.Tyr415Ter) c.1152C>G (p.Tyr384Ter) c.504C>G (p.Tyr168Ter) c.813C>G (p.Tyr271Ter) c.177C>G (p.Tyr59Ter) | |
| 3 | g.10375601G>T | CA351784600 | ATP2B2 | c.1110C>A (p.Tyr370Ter) c.1212C>A (p.Tyr404Ter) c.1245C>A (p.Tyr415Ter) c.1152C>A (p.Tyr384Ter) c.504C>A (p.Tyr168Ter) c.813C>A (p.Tyr271Ter) c.177C>A (p.Tyr59Ter) | |
| 3 | g.10375602T>A | CA351784602 | ATP2B2 | c.1109A>T (p.Tyr370Phe) c.1211A>T (p.Tyr404Phe) c.1244A>T (p.Tyr415Phe) c.1151A>T (p.Tyr384Phe) c.503A>T (p.Tyr168Phe) c.812A>T (p.Tyr271Phe) c.176A>T (p.Tyr59Phe) | |
| 3 | g.10375602T>C | CA351784601 | ATP2B2 | c.1109A>G (p.Tyr370Cys) c.1211A>G (p.Tyr404Cys) c.1244A>G (p.Tyr415Cys) c.1151A>G (p.Tyr384Cys) c.503A>G (p.Tyr168Cys) c.812A>G (p.Tyr271Cys) c.176A>G (p.Tyr59Cys) | gnomAD v4 |
| 3 | g.10375602T>G | CA70116375 | ATP2B2 | c.1109A>C (p.Tyr370Ser) c.1211A>C (p.Tyr404Ser) c.1244A>C (p.Tyr415Ser) c.1151A>C (p.Tyr384Ser) c.503A>C (p.Tyr168Ser) c.812A>C (p.Tyr271Ser) c.176A>C (p.Tyr59Ser) | dbSNP gnomAD v4 |
| 3 | g.10375602T= | CA1345182488 | ATP2B2 | c.1109A= (p.Tyr370=) c.1211A= (p.Tyr404=) c.1244A= (p.Tyr415=) c.1151A= (p.Tyr384=) c.503A= (p.Tyr168=) c.812A= (p.Tyr271=) c.176A= (p.Tyr59=) | |
| 3 | g.10375603A>C | CA351784603 | ATP2B2 | c.1108T>G (p.Tyr370Asp) c.1210T>G (p.Tyr404Asp) c.1243T>G (p.Tyr415Asp) c.1150T>G (p.Tyr384Asp) c.502T>G (p.Tyr168Asp) c.811T>G (p.Tyr271Asp) c.175T>G (p.Tyr59Asp) | |
| 3 | g.10375603A>G | CA351784604 | ATP2B2 | c.1108T>C (p.Tyr370His) c.1210T>C (p.Tyr404His) c.1243T>C (p.Tyr415His) c.1150T>C (p.Tyr384His) c.502T>C (p.Tyr168His) c.811T>C (p.Tyr271His) c.175T>C (p.Tyr59His) | |
| 3 | g.10375603A>T | CA351784605 | ATP2B2 | c.1108T>A (p.Tyr370Asn) c.1210T>A (p.Tyr404Asn) c.1243T>A (p.Tyr415Asn) c.1150T>A (p.Tyr384Asn) c.502T>A (p.Tyr168Asn) c.811T>A (p.Tyr271Asn) c.175T>A (p.Tyr59Asn) | |
| 3 | g.10375604G>A | CA432441927 | ATP2B2 | c.1107C>T (p.Leu369=) c.1209C>T (p.Leu403=) c.1242C>T (p.Leu414=) c.1149C>T (p.Leu383=) c.501C>T (p.Leu167=) c.810C>T (p.Leu270=) c.174C>T (p.Leu58=) | gnomAD v4 |
| 3 | g.10375604G>C | CA2253710 | ATP2B2 | c.1107C>G (p.Leu369=) c.1209C>G (p.Leu403=) c.1242C>G (p.Leu414=) c.1149C>G (p.Leu383=) c.501C>G (p.Leu167=) c.810C>G (p.Leu270=) c.174C>G (p.Leu58=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375604G= | CA1345182490 | ATP2B2 | c.1107C= (p.Leu369=) c.1209C= (p.Leu403=) c.1242C= (p.Leu414=) c.1149C= (p.Leu383=) c.501C= (p.Leu167=) c.810C= (p.Leu270=) c.174C= (p.Leu58=) | |
| 3 | g.10375604G>T | CA432441930 | ATP2B2 | c.1107C>A (p.Leu369=) c.1209C>A (p.Leu403=) c.1242C>A (p.Leu414=) c.1149C>A (p.Leu383=) c.501C>A (p.Leu167=) c.810C>A (p.Leu270=) c.174C>A (p.Leu58=) | |
| 3 | g.10375605A>C | CA351784606 | ATP2B2 | c.1106T>G (p.Leu369Arg) c.1208T>G (p.Leu403Arg) c.1241T>G (p.Leu414Arg) c.1148T>G (p.Leu383Arg) c.500T>G (p.Leu167Arg) c.809T>G (p.Leu270Arg) c.173T>G (p.Leu58Arg) | |
| 3 | g.10375605A>G | CA351784607 | ATP2B2 | c.1106T>C (p.Leu369Pro) c.1208T>C (p.Leu403Pro) c.1241T>C (p.Leu414Pro) c.1148T>C (p.Leu383Pro) c.500T>C (p.Leu167Pro) c.809T>C (p.Leu270Pro) c.173T>C (p.Leu58Pro) | |
| 3 | g.10375605A>T | CA351784608 | ATP2B2 | c.1106T>A (p.Leu369His) c.1208T>A (p.Leu403His) c.1241T>A (p.Leu414His) c.1148T>A (p.Leu383His) c.500T>A (p.Leu167His) c.809T>A (p.Leu270His) c.173T>A (p.Leu58His) | |
| 3 | g.10375606G>A | CA351784609 | ATP2B2 | c.1105C>T (p.Leu369Phe) c.1207C>T (p.Leu403Phe) c.1240C>T (p.Leu414Phe) c.1147C>T (p.Leu383Phe) c.499C>T (p.Leu167Phe) c.808C>T (p.Leu270Phe) c.172C>T (p.Leu58Phe) | gnomAD v4 |
| 3 | g.10375606G>C | CA351784610 | ATP2B2 | c.1105C>G (p.Leu369Val) c.1207C>G (p.Leu403Val) c.1240C>G (p.Leu414Val) c.1147C>G (p.Leu383Val) c.499C>G (p.Leu167Val) c.808C>G (p.Leu270Val) c.172C>G (p.Leu58Val) | |
| 3 | g.10375606G>T | CA351784611 | ATP2B2 | c.1105C>A (p.Leu369Ile) c.1207C>A (p.Leu403Ile) c.1240C>A (p.Leu414Ile) c.1147C>A (p.Leu383Ile) c.499C>A (p.Leu167Ile) c.808C>A (p.Leu270Ile) c.172C>A (p.Leu58Ile) | gnomAD v4 |
| 3 | g.10375607C>A | CA432441935 | ATP2B2 | c.1104G>T (p.Val368=) c.1206G>T (p.Val402=) c.1239G>T (p.Val413=) c.1146G>T (p.Val382=) c.498G>T (p.Val166=) c.807G>T (p.Val269=) c.171G>T (p.Val57=) | |
| 3 | g.10375607C>G | CA432441939 | ATP2B2 | c.1104G>C (p.Val368=) c.1206G>C (p.Val402=) c.1239G>C (p.Val413=) c.1146G>C (p.Val382=) c.498G>C (p.Val166=) c.807G>C (p.Val269=) c.171G>C (p.Val57=) | |
| 3 | g.10375607C>T | CA432441937 | ATP2B2 | c.1104G>A (p.Val368=) c.1206G>A (p.Val402=) c.1239G>A (p.Val413=) c.1146G>A (p.Val382=) c.498G>A (p.Val166=) c.807G>A (p.Val269=) c.171G>A (p.Val57=) | |
| 3 | g.10375608A>C | CA351784612 | ATP2B2 | c.1103T>G (p.Val368Gly) c.1205T>G (p.Val402Gly) c.1238T>G (p.Val413Gly) c.1145T>G (p.Val382Gly) c.497T>G (p.Val166Gly) c.806T>G (p.Val269Gly) c.170T>G (p.Val57Gly) | |
| 3 | g.10375608A>G | CA351784613 | ATP2B2 | c.1103T>C (p.Val368Ala) c.1205T>C (p.Val402Ala) c.1238T>C (p.Val413Ala) c.1145T>C (p.Val382Ala) c.497T>C (p.Val166Ala) c.806T>C (p.Val269Ala) c.170T>C (p.Val57Ala) | |
| 3 | g.10375608A>T | CA351784614 | ATP2B2 | c.1103T>A (p.Val368Glu) c.1205T>A (p.Val402Glu) c.1238T>A (p.Val413Glu) c.1145T>A (p.Val382Glu) c.497T>A (p.Val166Glu) c.806T>A (p.Val269Glu) c.170T>A (p.Val57Glu) | |
| 3 | g.10375609C>A | CA351784617 | ATP2B2 | c.1102G>T (p.Val368Leu) c.1204G>T (p.Val402Leu) c.1237G>T (p.Val413Leu) c.1144G>T (p.Val382Leu) c.496G>T (p.Val166Leu) c.805G>T (p.Val269Leu) c.169G>T (p.Val57Leu) | |
| 3 | g.10375609C>G | CA351784616 | ATP2B2 | c.1102G>C (p.Val368Leu) c.1204G>C (p.Val402Leu) c.1237G>C (p.Val413Leu) c.1144G>C (p.Val382Leu) c.496G>C (p.Val166Leu) c.805G>C (p.Val269Leu) c.169G>C (p.Val57Leu) | |
| 3 | g.10375609C>T | CA351784615 | ATP2B2 | c.1102G>A (p.Val368Met) c.1204G>A (p.Val402Met) c.1237G>A (p.Val413Met) c.1144G>A (p.Val382Met) c.496G>A (p.Val166Met) c.805G>A (p.Val269Met) c.169G>A (p.Val57Met) | gnomAD v4 |
| 3 | g.10375610C>A | CA432441946 | ATP2B2 | c.1101G>T (p.Leu367=) c.1203G>T (p.Leu401=) c.1236G>T (p.Leu412=) c.1143G>T (p.Leu381=) c.495G>T (p.Leu165=) c.804G>T (p.Leu268=) c.168G>T (p.Leu56=) | |
| 3 | g.10375610C= | CA1345182492 | ATP2B2 | c.1101G= (p.Leu367=) c.1203G= (p.Leu401=) c.1236G= (p.Leu412=) c.1143G= (p.Leu381=) c.495G= (p.Leu165=) c.804G= (p.Leu268=) c.168G= (p.Leu56=) | |
| 3 | g.10375610C>G | CA2253711 | ATP2B2 | c.1101G>C (p.Leu367=) c.1203G>C (p.Leu401=) c.1236G>C (p.Leu412=) c.1143G>C (p.Leu381=) c.495G>C (p.Leu165=) c.804G>C (p.Leu268=) c.168G>C (p.Leu56=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375610C>T | CA432441948 | ATP2B2 | c.1101G>A (p.Leu367=) c.1203G>A (p.Leu401=) c.1236G>A (p.Leu412=) c.1143G>A (p.Leu381=) c.495G>A (p.Leu165=) c.804G>A (p.Leu268=) c.168G>A (p.Leu56=) | |
| 3 | g.10375611A>C | CA351784619 | ATP2B2 | c.1100T>G (p.Leu367Arg) c.1202T>G (p.Leu401Arg) c.1235T>G (p.Leu412Arg) c.1142T>G (p.Leu381Arg) c.494T>G (p.Leu165Arg) c.803T>G (p.Leu268Arg) c.167T>G (p.Leu56Arg) | |
| 3 | g.10375611A>G | CA351784618 | ATP2B2 | c.1100T>C (p.Leu367Pro) c.1202T>C (p.Leu401Pro) c.1235T>C (p.Leu412Pro) c.1142T>C (p.Leu381Pro) c.494T>C (p.Leu165Pro) c.803T>C (p.Leu268Pro) c.167T>C (p.Leu56Pro) | |
| 3 | g.10375611A>T | CA351784620 | ATP2B2 | c.1100T>A (p.Leu367Gln) c.1202T>A (p.Leu401Gln) c.1235T>A (p.Leu412Gln) c.1142T>A (p.Leu381Gln) c.494T>A (p.Leu165Gln) c.803T>A (p.Leu268Gln) c.167T>A (p.Leu56Gln) | |
| 3 | g.10375612G>A | CA432441953 | ATP2B2 | c.1099C>T (p.Leu367=) c.1201C>T (p.Leu401=) c.1234C>T (p.Leu412=) c.1141C>T (p.Leu381=) c.493C>T (p.Leu165=) c.802C>T (p.Leu268=) c.166C>T (p.Leu56=) | |
| 3 | g.10375612G>C | CA351784621 | ATP2B2 | c.1099C>G (p.Leu367Val) c.1201C>G (p.Leu401Val) c.1234C>G (p.Leu412Val) c.1141C>G (p.Leu381Val) c.493C>G (p.Leu165Val) c.802C>G (p.Leu268Val) c.166C>G (p.Leu56Val) | |
| 3 | g.10375612G>T | CA351784622 | ATP2B2 | c.1099C>A (p.Leu367Met) c.1201C>A (p.Leu401Met) c.1234C>A (p.Leu412Met) c.1141C>A (p.Leu381Met) c.493C>A (p.Leu165Met) c.802C>A (p.Leu268Met) c.166C>A (p.Leu56Met) | |
| 3 | g.10375613G>A | CA432441956 | ATP2B2 | c.1098C>T (p.Ile366=) c.1200C>T (p.Ile400=) c.1233C>T (p.Ile411=) c.1140C>T (p.Ile380=) c.492C>T (p.Ile164=) c.801C>T (p.Ile267=) c.165C>T (p.Ile55=) | |
| 3 | g.10375613G>C | CA351784623 | ATP2B2 | c.1098C>G (p.Ile366Met) c.1200C>G (p.Ile400Met) c.1233C>G (p.Ile411Met) c.1140C>G (p.Ile380Met) c.492C>G (p.Ile164Met) c.801C>G (p.Ile267Met) c.165C>G (p.Ile55Met) | |
| 3 | g.10375613G>T | CA432441959 | ATP2B2 | c.1098C>A (p.Ile366=) c.1200C>A (p.Ile400=) c.1233C>A (p.Ile411=) c.1140C>A (p.Ile380=) c.492C>A (p.Ile164=) c.801C>A (p.Ile267=) c.165C>A (p.Ile55=) | |
| 3 | g.10375614A>C | CA351784625 | ATP2B2 | c.1097T>G (p.Ile366Ser) c.1199T>G (p.Ile400Ser) c.1232T>G (p.Ile411Ser) c.1139T>G (p.Ile380Ser) c.491T>G (p.Ile164Ser) c.800T>G (p.Ile267Ser) c.164T>G (p.Ile55Ser) | |
| 3 | g.10375614A>G | CA351784624 | ATP2B2 | c.1097T>C (p.Ile366Thr) c.1199T>C (p.Ile400Thr) c.1232T>C (p.Ile411Thr) c.1139T>C (p.Ile380Thr) c.491T>C (p.Ile164Thr) c.800T>C (p.Ile267Thr) c.164T>C (p.Ile55Thr) | |
| 3 | g.10375614A>T | CA351784626 | ATP2B2 | c.1097T>A (p.Ile366Asn) c.1199T>A (p.Ile400Asn) c.1232T>A (p.Ile411Asn) c.1139T>A (p.Ile380Asn) c.491T>A (p.Ile164Asn) c.800T>A (p.Ile267Asn) c.164T>A (p.Ile55Asn) | |
| 3 | g.10375615T>A | CA351784627 | ATP2B2 | c.1096A>T (p.Ile366Phe) c.1198A>T (p.Ile400Phe) c.1231A>T (p.Ile411Phe) c.1138A>T (p.Ile380Phe) c.490A>T (p.Ile164Phe) c.799A>T (p.Ile267Phe) c.163A>T (p.Ile55Phe) | |
| 3 | g.10375615T>C | CA351784628 | ATP2B2 | c.1096A>G (p.Ile366Val) c.1198A>G (p.Ile400Val) c.1231A>G (p.Ile411Val) c.1138A>G (p.Ile380Val) c.490A>G (p.Ile164Val) c.799A>G (p.Ile267Val) c.163A>G (p.Ile55Val) | |
| 3 | g.10375615T>G | CA351784629 | ATP2B2 | c.1096A>C (p.Ile366Leu) c.1198A>C (p.Ile400Leu) c.1231A>C (p.Ile411Leu) c.1138A>C (p.Ile380Leu) c.490A>C (p.Ile164Leu) c.799A>C (p.Ile267Leu) c.163A>C (p.Ile55Leu) | COSMIC COSMIC |
| 3 | g.10375616G>A | CA432441968 | ATP2B2 | c.1095C>T (p.Ile365=) c.1197C>T (p.Ile399=) c.1230C>T (p.Ile410=) c.1137C>T (p.Ile379=) c.489C>T (p.Ile163=) c.798C>T (p.Ile266=) c.162C>T (p.Ile54=) | |
| 3 | g.10375616G>C | CA351784630 | ATP2B2 | c.1095C>G (p.Ile365Met) c.1197C>G (p.Ile399Met) c.1230C>G (p.Ile410Met) c.1137C>G (p.Ile379Met) c.489C>G (p.Ile163Met) c.798C>G (p.Ile266Met) c.162C>G (p.Ile54Met) | |
| 3 | g.10375616G>T | CA432441966 | ATP2B2 | c.1095C>A (p.Ile365=) c.1197C>A (p.Ile399=) c.1230C>A (p.Ile410=) c.1137C>A (p.Ile379=) c.489C>A (p.Ile163=) c.798C>A (p.Ile266=) c.162C>A (p.Ile54=) | gnomAD v4 |
| 3 | g.10375617A>C | CA351784631 | ATP2B2 | c.1094T>G (p.Ile365Ser) c.1196T>G (p.Ile399Ser) c.1229T>G (p.Ile410Ser) c.1136T>G (p.Ile379Ser) c.488T>G (p.Ile163Ser) c.797T>G (p.Ile266Ser) c.161T>G (p.Ile54Ser) | |
| 3 | g.10375617A>G | CA351784632 | ATP2B2 | c.1094T>C (p.Ile365Thr) c.1196T>C (p.Ile399Thr) c.1229T>C (p.Ile410Thr) c.1136T>C (p.Ile379Thr) c.488T>C (p.Ile163Thr) c.797T>C (p.Ile266Thr) c.161T>C (p.Ile54Thr) | |
| 3 | g.10375617A>T | CA351784633 | ATP2B2 | c.1094T>A (p.Ile365Asn) c.1196T>A (p.Ile399Asn) c.1229T>A (p.Ile410Asn) c.1136T>A (p.Ile379Asn) c.488T>A (p.Ile163Asn) c.797T>A (p.Ile266Asn) c.161T>A (p.Ile54Asn) | |
| 3 | g.10375618T>A | CA351784634 | ATP2B2 | c.1093A>T (p.Ile365Phe) c.1195A>T (p.Ile399Phe) c.1228A>T (p.Ile410Phe) c.1135A>T (p.Ile379Phe) c.487A>T (p.Ile163Phe) c.796A>T (p.Ile266Phe) c.160A>T (p.Ile54Phe) | |
| 3 | g.10375618T>C | CA351784635 | ATP2B2 | c.1093A>G (p.Ile365Val) c.1195A>G (p.Ile399Val) c.1228A>G (p.Ile410Val) c.1135A>G (p.Ile379Val) c.487A>G (p.Ile163Val) c.796A>G (p.Ile266Val) c.160A>G (p.Ile54Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375618T>G | CA351784636 | ATP2B2 | c.1093A>C (p.Ile365Leu) c.1195A>C (p.Ile399Leu) c.1228A>C (p.Ile410Leu) c.1135A>C (p.Ile379Leu) c.487A>C (p.Ile163Leu) c.796A>C (p.Ile266Leu) c.160A>C (p.Ile54Leu) | |
| 3 | g.10375618T= | CA1345182494 | ATP2B2 | c.1093A= (p.Ile365=) c.1195A= (p.Ile399=) c.1228A= (p.Ile410=) c.1135A= (p.Ile379=) c.487A= (p.Ile163=) c.796A= (p.Ile266=) c.160A= (p.Ile54=) | |
| 3 | g.10375619C>A | CA70116380 | ATP2B2 | c.1092G>T (p.Val364=) c.1194G>T (p.Val398=) c.1227G>T (p.Val409=) c.1134G>T (p.Val378=) c.486G>T (p.Val162=) c.795G>T (p.Val265=) c.159G>T (p.Val53=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10375619C= | CA1345182496 | ATP2B2 | c.1092G= (p.Val364=) c.1194G= (p.Val398=) c.1227G= (p.Val409=) c.1134G= (p.Val378=) c.486G= (p.Val162=) c.795G= (p.Val265=) c.159G= (p.Val53=) | |
| 3 | g.10375619C>G | CA432441973 | ATP2B2 | c.1092G>C (p.Val364=) c.1194G>C (p.Val398=) c.1227G>C (p.Val409=) c.1134G>C (p.Val378=) c.486G>C (p.Val162=) c.795G>C (p.Val265=) c.159G>C (p.Val53=) | |
| 3 | g.10375619C>T | CA432441974 | ATP2B2 | c.1092G>A (p.Val364=) c.1194G>A (p.Val398=) c.1227G>A (p.Val409=) c.1134G>A (p.Val378=) c.486G>A (p.Val162=) c.795G>A (p.Val265=) c.159G>A (p.Val53=) | |
| 3 | g.10375620A= | CA1345182498 | ATP2B2 | c.1091T= (p.Val364=) c.1193T= (p.Val398=) c.1226T= (p.Val409=) c.1133T= (p.Val378=) c.485T= (p.Val162=) c.794T= (p.Val265=) c.158T= (p.Val53=) | |
| 3 | g.10375620A>C | CA351784637 | ATP2B2 | c.1091T>G (p.Val364Gly) c.1193T>G (p.Val398Gly) c.1226T>G (p.Val409Gly) c.1133T>G (p.Val378Gly) c.485T>G (p.Val162Gly) c.794T>G (p.Val265Gly) c.158T>G (p.Val53Gly) | |
| 3 | g.10375620A>G | CA351784638 | ATP2B2 | c.1091T>C (p.Val364Ala) c.1193T>C (p.Val398Ala) c.1226T>C (p.Val409Ala) c.1133T>C (p.Val378Ala) c.485T>C (p.Val162Ala) c.794T>C (p.Val265Ala) c.158T>C (p.Val53Ala) | ClinVar dbSNP |
| 3 | g.10375620A>T | CA351784639 | ATP2B2 | c.1091T>A (p.Val364Glu) c.1193T>A (p.Val398Glu) c.1226T>A (p.Val409Glu) c.1133T>A (p.Val378Glu) c.485T>A (p.Val162Glu) c.794T>A (p.Val265Glu) c.158T>A (p.Val53Glu) | |
| 3 | g.10375621C>A | CA351784642 | ATP2B2 | c.1090G>T (p.Val364Leu) c.1192G>T (p.Val398Leu) c.1225G>T (p.Val409Leu) c.1132G>T (p.Val378Leu) c.484G>T (p.Val162Leu) c.793G>T (p.Val265Leu) c.157G>T (p.Val53Leu) | |
| 3 | g.10375621C>G | CA351784641 | ATP2B2 | c.1090G>C (p.Val364Leu) c.1192G>C (p.Val398Leu) c.1225G>C (p.Val409Leu) c.1132G>C (p.Val378Leu) c.484G>C (p.Val162Leu) c.793G>C (p.Val265Leu) c.157G>C (p.Val53Leu) | |
| 3 | g.10375621C>T | CA351784640 | ATP2B2 | c.1090G>A (p.Val364Met) c.1192G>A (p.Val398Met) c.1225G>A (p.Val409Met) c.1132G>A (p.Val378Met) c.484G>A (p.Val162Met) c.793G>A (p.Val265Met) c.157G>A (p.Val53Met) | |
| 3 | g.10375622C>A | CA432441983 | ATP2B2 | c.1089G>T (p.Thr363=) c.1191G>T (p.Thr397=) c.1224G>T (p.Thr408=) c.1131G>T (p.Thr377=) c.483G>T (p.Thr161=) c.792G>T (p.Thr264=) c.156G>T (p.Thr52=) | |
| 3 | g.10375622C= | CA1345182500 | ATP2B2 | c.1089G= (p.Thr363=) c.1191G= (p.Thr397=) c.1224G= (p.Thr408=) c.1131G= (p.Thr377=) c.483G= (p.Thr161=) c.792G= (p.Thr264=) c.156G= (p.Thr52=) | |
| 3 | g.10375622C>G | CA432441981 | ATP2B2 | c.1089G>C (p.Thr363=) c.1191G>C (p.Thr397=) c.1224G>C (p.Thr408=) c.1131G>C (p.Thr377=) c.483G>C (p.Thr161=) c.792G>C (p.Thr264=) c.156G>C (p.Thr52=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375622C>T | CA2253712 | ATP2B2 | c.1089G>A (p.Thr363=) c.1191G>A (p.Thr397=) c.1224G>A (p.Thr408=) c.1131G>A (p.Thr377=) c.483G>A (p.Thr161=) c.792G>A (p.Thr264=) c.156G>A (p.Thr52=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375623G>A | CA351784643 | ATP2B2 | c.1088C>T (p.Thr363Met) c.1190C>T (p.Thr397Met) c.1223C>T (p.Thr408Met) c.1130C>T (p.Thr377Met) c.482C>T (p.Thr161Met) c.791C>T (p.Thr264Met) c.155C>T (p.Thr52Met) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.10375623G>C | CA351784644 | ATP2B2 | c.1088C>G (p.Thr363Arg) c.1190C>G (p.Thr397Arg) c.1223C>G (p.Thr408Arg) c.1130C>G (p.Thr377Arg) c.482C>G (p.Thr161Arg) c.791C>G (p.Thr264Arg) c.155C>G (p.Thr52Arg) | |
| 3 | g.10375623G= | CA1345182503 | ATP2B2 | c.1088C= (p.Thr363=) c.1190C= (p.Thr397=) c.1223C= (p.Thr408=) c.1130C= (p.Thr377=) c.482C= (p.Thr161=) c.791C= (p.Thr264=) c.155C= (p.Thr52=) | |
| 3 | g.10375623G>T | CA351784645 | ATP2B2 | c.1088C>A (p.Thr363Lys) c.1190C>A (p.Thr397Lys) c.1223C>A (p.Thr408Lys) c.1130C>A (p.Thr377Lys) c.482C>A (p.Thr161Lys) c.791C>A (p.Thr264Lys) c.155C>A (p.Thr52Lys) | |
| 3 | g.10375624T>A | CA351784646 | ATP2B2 | c.1087A>T (p.Thr363Ser) c.1189A>T (p.Thr397Ser) c.1222A>T (p.Thr408Ser) c.1129A>T (p.Thr377Ser) c.481A>T (p.Thr161Ser) c.790A>T (p.Thr264Ser) c.154A>T (p.Thr52Ser) | |
| 3 | g.10375624T>C | CA351784647 | ATP2B2 | c.1087A>G (p.Thr363Ala) c.1189A>G (p.Thr397Ala) c.1222A>G (p.Thr408Ala) c.1129A>G (p.Thr377Ala) c.481A>G (p.Thr161Ala) c.790A>G (p.Thr264Ala) c.154A>G (p.Thr52Ala) | |
| 3 | g.10375624T>G | CA351784648 | ATP2B2 | c.1087A>C (p.Thr363Pro) c.1189A>C (p.Thr397Pro) c.1222A>C (p.Thr408Pro) c.1129A>C (p.Thr377Pro) c.481A>C (p.Thr161Pro) c.790A>C (p.Thr264Pro) c.154A>C (p.Thr52Pro) | |
| 3 | g.10375625G>A | CA432441990 | ATP2B2 | c.1086C>T (p.Ile362=) c.1188C>T (p.Ile396=) c.1221C>T (p.Ile407=) c.1128C>T (p.Ile376=) c.480C>T (p.Ile160=) c.789C>T (p.Ile263=) c.153C>T (p.Ile51=) | dbSNP |
| 3 | g.10375625G>C | CA351784649 | ATP2B2 | c.1086C>G (p.Ile362Met) c.1188C>G (p.Ile396Met) c.1221C>G (p.Ile407Met) c.1128C>G (p.Ile376Met) c.480C>G (p.Ile160Met) c.789C>G (p.Ile263Met) c.153C>G (p.Ile51Met) | |
| 3 | g.10375625G= | CA1345182505 | ATP2B2 | c.1086C= (p.Ile362=) c.1188C= (p.Ile396=) c.1221C= (p.Ile407=) c.1128C= (p.Ile376=) c.480C= (p.Ile160=) c.789C= (p.Ile263=) c.153C= (p.Ile51=) | |
| 3 | g.10375625G>T | CA432441992 | ATP2B2 | c.1086C>A (p.Ile362=) c.1188C>A (p.Ile396=) c.1221C>A (p.Ile407=) c.1128C>A (p.Ile376=) c.480C>A (p.Ile160=) c.789C>A (p.Ile263=) c.153C>A (p.Ile51=) | |
| 3 | g.10375626A>C | CA351784650 | ATP2B2 | c.1085T>G (p.Ile362Ser) c.1187T>G (p.Ile396Ser) c.1220T>G (p.Ile407Ser) c.1127T>G (p.Ile376Ser) c.479T>G (p.Ile160Ser) c.788T>G (p.Ile263Ser) c.152T>G (p.Ile51Ser) | |
| 3 | g.10375626A>G | CA351784651 | ATP2B2 | c.1085T>C (p.Ile362Thr) c.1187T>C (p.Ile396Thr) c.1220T>C (p.Ile407Thr) c.1127T>C (p.Ile376Thr) c.479T>C (p.Ile160Thr) c.788T>C (p.Ile263Thr) c.152T>C (p.Ile51Thr) | |
| 3 | g.10375626A>T | CA351784652 | ATP2B2 | c.1085T>A (p.Ile362Asn) c.1187T>A (p.Ile396Asn) c.1220T>A (p.Ile407Asn) c.1127T>A (p.Ile376Asn) c.479T>A (p.Ile160Asn) c.788T>A (p.Ile263Asn) c.152T>A (p.Ile51Asn) | |
| 3 | g.10375627T>A | CA351784653 | ATP2B2 | c.1084A>T (p.Ile362Phe) c.1186A>T (p.Ile396Phe) c.1219A>T (p.Ile407Phe) c.1126A>T (p.Ile376Phe) c.478A>T (p.Ile160Phe) c.787A>T (p.Ile263Phe) c.151A>T (p.Ile51Phe) | |
| 3 | g.10375627T>C | CA351784654 | ATP2B2 | c.1084A>G (p.Ile362Val) c.1186A>G (p.Ile396Val) c.1219A>G (p.Ile407Val) c.1126A>G (p.Ile376Val) c.478A>G (p.Ile160Val) c.787A>G (p.Ile263Val) c.151A>G (p.Ile51Val) | |
| 3 | g.10375627T>G | CA351784655 | ATP2B2 | c.1084A>C (p.Ile362Leu) c.1186A>C (p.Ile396Leu) c.1219A>C (p.Ile407Leu) c.1126A>C (p.Ile376Leu) c.478A>C (p.Ile160Leu) c.787A>C (p.Ile263Leu) c.151A>C (p.Ile51Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375627T= | CA1345182507 | ATP2B2 | c.1084A= (p.Ile362=) c.1186A= (p.Ile396=) c.1219A= (p.Ile407=) c.1126A= (p.Ile376=) c.478A= (p.Ile160=) c.787A= (p.Ile263=) c.151A= (p.Ile51=) | |
| 3 | g.10375628G>A | CA432442000 | ATP2B2 | c.1083C>T (p.Ala361=) c.1185C>T (p.Ala395=) c.1218C>T (p.Ala406=) c.1125C>T (p.Ala375=) c.477C>T (p.Ala159=) c.786C>T (p.Ala262=) c.150C>T (p.Ala50=) | gnomAD v4 |
| 3 | g.10375628G>C | CA432442002 | ATP2B2 | c.1083C>G (p.Ala361=) c.1185C>G (p.Ala395=) c.1218C>G (p.Ala406=) c.1125C>G (p.Ala375=) c.477C>G (p.Ala159=) c.786C>G (p.Ala262=) c.150C>G (p.Ala50=) | |
| 3 | g.10375628G>T | CA432442003 | ATP2B2 | c.1083C>A (p.Ala361=) c.1185C>A (p.Ala395=) c.1218C>A (p.Ala406=) c.1125C>A (p.Ala375=) c.477C>A (p.Ala159=) c.786C>A (p.Ala262=) c.150C>A (p.Ala50=) | |
| 3 | g.10375629G>A | CA351784657 | ATP2B2 | c.1082C>T (p.Ala361Val) c.1184C>T (p.Ala395Val) c.1217C>T (p.Ala406Val) c.1124C>T (p.Ala375Val) c.476C>T (p.Ala159Val) c.785C>T (p.Ala262Val) c.149C>T (p.Ala50Val) | |
| 3 | g.10375629G>C | CA351784658 | ATP2B2 | c.1082C>G (p.Ala361Gly) c.1184C>G (p.Ala395Gly) c.1217C>G (p.Ala406Gly) c.1124C>G (p.Ala375Gly) c.476C>G (p.Ala159Gly) c.785C>G (p.Ala262Gly) c.149C>G (p.Ala50Gly) | |
| 3 | g.10375629G>T | CA351784656 | ATP2B2 | c.1082C>A (p.Ala361Asp) c.1184C>A (p.Ala395Asp) c.1217C>A (p.Ala406Asp) c.1124C>A (p.Ala375Asp) c.476C>A (p.Ala159Asp) c.785C>A (p.Ala262Asp) c.149C>A (p.Ala50Asp) | |
| 3 | g.10375630C>A | CA351784659 | ATP2B2 | c.1081G>T (p.Ala361Ser) c.1183G>T (p.Ala395Ser) c.1216G>T (p.Ala406Ser) c.1123G>T (p.Ala375Ser) c.475G>T (p.Ala159Ser) c.784G>T (p.Ala262Ser) c.148G>T (p.Ala50Ser) | gnomAD v4 |
| 3 | g.10375630C>G | CA351784660 | ATP2B2 | c.1081G>C (p.Ala361Pro) c.1183G>C (p.Ala395Pro) c.1216G>C (p.Ala406Pro) c.1123G>C (p.Ala375Pro) c.475G>C (p.Ala159Pro) c.784G>C (p.Ala262Pro) c.148G>C (p.Ala50Pro) | |
| 3 | g.10375630C>T | CA351784661 | ATP2B2 | c.1081G>A (p.Ala361Thr) c.1183G>A (p.Ala395Thr) c.1216G>A (p.Ala406Thr) c.1123G>A (p.Ala375Thr) c.475G>A (p.Ala159Thr) c.784G>A (p.Ala262Thr) c.148G>A (p.Ala50Thr) | gnomAD v4 |
| 3 | g.10375631T>A | CA432442010 | ATP2B2 | c.1080A>T (p.Ser360=) c.1182A>T (p.Ser394=) c.1215A>T (p.Ser405=) c.1122A>T (p.Ser374=) c.474A>T (p.Ser158=) c.783A>T (p.Ser261=) c.147A>T (p.Ser49=) | |
| 3 | g.10375631T>C | CA432442011 | ATP2B2 | c.1080A>G (p.Ser360=) c.1182A>G (p.Ser394=) c.1215A>G (p.Ser405=) c.1122A>G (p.Ser374=) c.474A>G (p.Ser158=) c.783A>G (p.Ser261=) c.147A>G (p.Ser49=) | |
| 3 | g.10375631T>G | CA432442013 | ATP2B2 | c.1080A>C (p.Ser360=) c.1182A>C (p.Ser394=) c.1215A>C (p.Ser405=) c.1122A>C (p.Ser374=) c.474A>C (p.Ser158=) c.783A>C (p.Ser261=) c.147A>C (p.Ser49=) | |
| 3 | g.10375632G>A | CA351784662 | ATP2B2 | c.1079C>T (p.Ser360Leu) c.1181C>T (p.Ser394Leu) c.1214C>T (p.Ser405Leu) c.1121C>T (p.Ser374Leu) c.473C>T (p.Ser158Leu) c.782C>T (p.Ser261Leu) c.146C>T (p.Ser49Leu) | |
| 3 | g.10375632G>C | CA351784663 | ATP2B2 | c.1079C>G (p.Ser360Ter) c.1181C>G (p.Ser394Ter) c.1214C>G (p.Ser405Ter) c.1121C>G (p.Ser374Ter) c.473C>G (p.Ser158Ter) c.782C>G (p.Ser261Ter) c.146C>G (p.Ser49Ter) | |
| 3 | g.10375632G>T | CA351784664 | ATP2B2 | c.1079C>A (p.Ser360Ter) c.1181C>A (p.Ser394Ter) c.1214C>A (p.Ser405Ter) c.1121C>A (p.Ser374Ter) c.473C>A (p.Ser158Ter) c.782C>A (p.Ser261Ter) c.146C>A (p.Ser49Ter) | COSMIC COSMIC |
| 3 | g.10375633A>C | CA351784665 | ATP2B2 | c.1078T>G (p.Ser360Ala) c.1180T>G (p.Ser394Ala) c.1213T>G (p.Ser405Ala) c.1120T>G (p.Ser374Ala) c.472T>G (p.Ser158Ala) c.781T>G (p.Ser261Ala) c.145T>G (p.Ser49Ala) | |
| 3 | g.10375633A>G | CA351784666 | ATP2B2 | c.1078T>C (p.Ser360Pro) c.1180T>C (p.Ser394Pro) c.1213T>C (p.Ser405Pro) c.1120T>C (p.Ser374Pro) c.472T>C (p.Ser158Pro) c.781T>C (p.Ser261Pro) c.145T>C (p.Ser49Pro) | |
| 3 | g.10375633A>T | CA351784667 | ATP2B2 | c.1078T>A (p.Ser360Thr) c.1180T>A (p.Ser394Thr) c.1213T>A (p.Ser405Thr) c.1120T>A (p.Ser374Thr) c.472T>A (p.Ser158Thr) c.781T>A (p.Ser261Thr) c.145T>A (p.Ser49Thr) | |
| 3 | g.10375634C>A | CA351784668 | ATP2B2 | c.1077G>T (p.Met359Ile) c.1179G>T (p.Met393Ile) c.1212G>T (p.Met404Ile) c.1119G>T (p.Met373Ile) c.471G>T (p.Met157Ile) c.780G>T (p.Met260Ile) c.144G>T (p.Met48Ile) | |
| 3 | g.10375634C>G | CA351784669 | ATP2B2 | c.1077G>C (p.Met359Ile) c.1179G>C (p.Met393Ile) c.1212G>C (p.Met404Ile) c.1119G>C (p.Met373Ile) c.471G>C (p.Met157Ile) c.780G>C (p.Met260Ile) c.144G>C (p.Met48Ile) | |
| 3 | g.10375634C>T | CA351784670 | ATP2B2 | c.1077G>A (p.Met359Ile) c.1179G>A (p.Met393Ile) c.1212G>A (p.Met404Ile) c.1119G>A (p.Met373Ile) c.471G>A (p.Met157Ile) c.780G>A (p.Met260Ile) c.144G>A (p.Met48Ile) | |
| 3 | g.10375635A>C | CA351784673 | ATP2B2 | c.1076T>G (p.Met359Arg) c.1178T>G (p.Met393Arg) c.1211T>G (p.Met404Arg) c.1118T>G (p.Met373Arg) c.470T>G (p.Met157Arg) c.779T>G (p.Met260Arg) c.143T>G (p.Met48Arg) | |
| 3 | g.10375635A>G | CA351784671 | ATP2B2 | c.1076T>C (p.Met359Thr) c.1178T>C (p.Met393Thr) c.1211T>C (p.Met404Thr) c.1118T>C (p.Met373Thr) c.470T>C (p.Met157Thr) c.779T>C (p.Met260Thr) c.143T>C (p.Met48Thr) | |
| 3 | g.10375635A>T | CA351784672 | ATP2B2 | c.1076T>A (p.Met359Lys) c.1178T>A (p.Met393Lys) c.1211T>A (p.Met404Lys) c.1118T>A (p.Met373Lys) c.470T>A (p.Met157Lys) c.779T>A (p.Met260Lys) c.143T>A (p.Met48Lys) | |
| 3 | g.10375636T>A | CA351784674 | ATP2B2 | c.1075A>T (p.Met359Leu) c.1177A>T (p.Met393Leu) c.1210A>T (p.Met404Leu) c.1117A>T (p.Met373Leu) c.469A>T (p.Met157Leu) c.778A>T (p.Met260Leu) c.142A>T (p.Met48Leu) | |
| 3 | g.10375636T>C | CA351784675 | ATP2B2 | c.1075A>G (p.Met359Val) c.1177A>G (p.Met393Val) c.1210A>G (p.Met404Val) c.1117A>G (p.Met373Val) c.469A>G (p.Met157Val) c.778A>G (p.Met260Val) c.142A>G (p.Met48Val) | |
| 3 | g.10375636T>G | CA351784676 | ATP2B2 | c.1075A>C (p.Met359Leu) c.1177A>C (p.Met393Leu) c.1210A>C (p.Met404Leu) c.1117A>C (p.Met373Leu) c.469A>C (p.Met157Leu) c.778A>C (p.Met260Leu) c.142A>C (p.Met48Leu) | |
| 3 | g.10375637C>A | CA432442034 | ATP2B2 | c.1074G>T (p.Val358=) c.1176G>T (p.Val392=) c.1209G>T (p.Val403=) c.1116G>T (p.Val372=) c.468G>T (p.Val156=) c.777G>T (p.Val259=) c.141G>T (p.Val47=) | |
| 3 | g.10375637C>G | CA432442031 | ATP2B2 | c.1074G>C (p.Val358=) c.1176G>C (p.Val392=) c.1209G>C (p.Val403=) c.1116G>C (p.Val372=) c.468G>C (p.Val156=) c.777G>C (p.Val259=) c.141G>C (p.Val47=) | |
| 3 | g.10375637C>T | CA432442029 | ATP2B2 | c.1074G>A (p.Val358=) c.1176G>A (p.Val392=) c.1209G>A (p.Val403=) c.1116G>A (p.Val372=) c.468G>A (p.Val156=) c.777G>A (p.Val259=) c.141G>A (p.Val47=) | |
| 3 | g.10375638A>C | CA351784677 | ATP2B2 | c.1073T>G (p.Val358Gly) c.1175T>G (p.Val392Gly) c.1208T>G (p.Val403Gly) c.1115T>G (p.Val372Gly) c.467T>G (p.Val156Gly) c.776T>G (p.Val259Gly) c.140T>G (p.Val47Gly) | |
| 3 | g.10375638A>G | CA351784678 | ATP2B2 | c.1073T>C (p.Val358Ala) c.1175T>C (p.Val392Ala) c.1208T>C (p.Val403Ala) c.1115T>C (p.Val372Ala) c.467T>C (p.Val156Ala) c.776T>C (p.Val259Ala) c.140T>C (p.Val47Ala) | |
| 3 | g.10375638A>T | CA351784679 | ATP2B2 | c.1073T>A (p.Val358Glu) c.1175T>A (p.Val392Glu) c.1208T>A (p.Val403Glu) c.1115T>A (p.Val372Glu) c.467T>A (p.Val156Glu) c.776T>A (p.Val259Glu) c.140T>A (p.Val47Glu) | |
| 3 | g.10375639C>A | CA351784680 | ATP2B2 | c.1072G>T (p.Val358Leu) c.1174G>T (p.Val392Leu) c.1207G>T (p.Val403Leu) c.1114G>T (p.Val372Leu) c.466G>T (p.Val156Leu) c.775G>T (p.Val259Leu) c.139G>T (p.Val47Leu) | |
| 3 | g.10375639C>G | CA351784681 | ATP2B2 | c.1072G>C (p.Val358Leu) c.1174G>C (p.Val392Leu) c.1207G>C (p.Val403Leu) c.1114G>C (p.Val372Leu) c.466G>C (p.Val156Leu) c.775G>C (p.Val259Leu) c.139G>C (p.Val47Leu) | |
| 3 | g.10375639C>T | CA351784682 | ATP2B2 | c.1072G>A (p.Val358Met) c.1174G>A (p.Val392Met) c.1207G>A (p.Val403Met) c.1114G>A (p.Val372Met) c.466G>A (p.Val156Met) c.775G>A (p.Val259Met) c.139G>A (p.Val47Met) | |
| 3 | g.10375640C>A | CA351784683 | ATP2B2 | c.1071G>T (p.Leu357Phe) c.1173G>T (p.Leu391Phe) c.1206G>T (p.Leu402Phe) c.1113G>T (p.Leu371Phe) c.465G>T (p.Leu155Phe) c.774G>T (p.Leu258Phe) c.138G>T (p.Leu46Phe) | |
| 3 | g.10375640C>G | CA351784684 | ATP2B2 | c.1071G>C (p.Leu357Phe) c.1173G>C (p.Leu391Phe) c.1206G>C (p.Leu402Phe) c.1113G>C (p.Leu371Phe) c.465G>C (p.Leu155Phe) c.774G>C (p.Leu258Phe) c.138G>C (p.Leu46Phe) | |
| 3 | g.10375640C>T | CA432442045 | ATP2B2 | c.1071G>A (p.Leu357=) c.1173G>A (p.Leu391=) c.1206G>A (p.Leu402=) c.1113G>A (p.Leu371=) c.465G>A (p.Leu155=) c.774G>A (p.Leu258=) c.138G>A (p.Leu46=) | |
| 3 | g.10375641A>C | CA351784687 | ATP2B2 | c.1070T>G (p.Leu357Trp) c.1172T>G (p.Leu391Trp) c.1205T>G (p.Leu402Trp) c.1112T>G (p.Leu371Trp) c.464T>G (p.Leu155Trp) c.773T>G (p.Leu258Trp) c.137T>G (p.Leu46Trp) | |
| 3 | g.10375641A>G | CA351784686 | ATP2B2 | c.1070T>C (p.Leu357Ser) c.1172T>C (p.Leu391Ser) c.1205T>C (p.Leu402Ser) c.1112T>C (p.Leu371Ser) c.464T>C (p.Leu155Ser) c.773T>C (p.Leu258Ser) c.137T>C (p.Leu46Ser) | |
| 3 | g.10375641A>T | CA351784685 | ATP2B2 | c.1070T>A (p.Leu357Ter) c.1172T>A (p.Leu391Ter) c.1205T>A (p.Leu402Ter) c.1112T>A (p.Leu371Ter) c.464T>A (p.Leu155Ter) c.773T>A (p.Leu258Ter) c.137T>A (p.Leu46Ter) | |
| 3 | g.10375642A>C | CA351784688 | ATP2B2 | c.1069T>G (p.Leu357Val) c.1171T>G (p.Leu391Val) c.1204T>G (p.Leu402Val) c.1111T>G (p.Leu371Val) c.463T>G (p.Leu155Val) c.772T>G (p.Leu258Val) c.136T>G (p.Leu46Val) | |
| 3 | g.10375642A>G | CA432442051 | ATP2B2 | c.1069T>C (p.Leu357=) c.1171T>C (p.Leu391=) c.1204T>C (p.Leu402=) c.1111T>C (p.Leu371=) c.463T>C (p.Leu155=) c.772T>C (p.Leu258=) c.136T>C (p.Leu46=) | |
| 3 | g.10375642A>T | CA351784689 | ATP2B2 | c.1069T>A (p.Leu357Met) c.1171T>A (p.Leu391Met) c.1204T>A (p.Leu402Met) c.1111T>A (p.Leu371Met) c.463T>A (p.Leu155Met) c.772T>A (p.Leu258Met) c.136T>A (p.Leu46Met) | |
| 3 | g.10375643G>A | CA432442054 | ATP2B2 | c.1068C>T (p.Gly356=) c.1170C>T (p.Gly390=) c.1203C>T (p.Gly401=) c.1110C>T (p.Gly370=) c.462C>T (p.Gly154=) c.771C>T (p.Gly257=) c.135C>T (p.Gly45=) | |
| 3 | g.10375643G>C | CA432442058 | ATP2B2 | c.1068C>G (p.Gly356=) c.1170C>G (p.Gly390=) c.1203C>G (p.Gly401=) c.1110C>G (p.Gly370=) c.462C>G (p.Gly154=) c.771C>G (p.Gly257=) c.135C>G (p.Gly45=) | |
| 3 | g.10375643G>T | CA432442056 | ATP2B2 | c.1068C>A (p.Gly356=) c.1170C>A (p.Gly390=) c.1203C>A (p.Gly401=) c.1110C>A (p.Gly370=) c.462C>A (p.Gly154=) c.771C>A (p.Gly257=) c.135C>A (p.Gly45=) | |
| 3 | g.10375644C>A | CA351784690 | ATP2B2 | c.1067G>T (p.Gly356Val) c.1169G>T (p.Gly390Val) c.1202G>T (p.Gly401Val) c.1109G>T (p.Gly370Val) c.461G>T (p.Gly154Val) c.770G>T (p.Gly257Val) c.134G>T (p.Gly45Val) | |
| 3 | g.10375644C>G | CA351784691 | ATP2B2 | c.1067G>C (p.Gly356Ala) c.1169G>C (p.Gly390Ala) c.1202G>C (p.Gly401Ala) c.1109G>C (p.Gly370Ala) c.461G>C (p.Gly154Ala) c.770G>C (p.Gly257Ala) c.134G>C (p.Gly45Ala) | |
| 3 | g.10375644C>T | CA351784692 | ATP2B2 | c.1067G>A (p.Gly356Asp) c.1169G>A (p.Gly390Asp) c.1202G>A (p.Gly401Asp) c.1109G>A (p.Gly370Asp) c.461G>A (p.Gly154Asp) c.770G>A (p.Gly257Asp) c.134G>A (p.Gly45Asp) | COSMIC COSMIC |
| 3 | g.10375645C>A | CA351784693 | ATP2B2 | c.1067-1G>T (n.1067-1G>T) c.1169-1G>T (n.1169-1G>T) c.1202-1G>T (n.1202-1G>T) c.1109-1G>T (n.1109-1G>T) c.461-1G>T (n.461-1G>T) c.770-1G>T (n.770-1G>T) c.134-1G>T (n.134-1G>T) | |
| 3 | g.10375645C>G | CA351784694 | ATP2B2 | c.1067-1G>C (n.1067-1G>C) c.1169-1G>C (n.1169-1G>C) c.1202-1G>C (n.1202-1G>C) c.1109-1G>C (n.1109-1G>C) c.461-1G>C (n.461-1G>C) c.770-1G>C (n.770-1G>C) c.134-1G>C (n.134-1G>C) | |
| 3 | g.10375645C>T | CA351784695 | ATP2B2 | c.1067-1G>A (n.1067-1G>A) c.1169-1G>A (n.1169-1G>A) c.1202-1G>A (n.1202-1G>A) c.1109-1G>A (n.1109-1G>A) c.461-1G>A (n.461-1G>A) c.770-1G>A (n.770-1G>A) c.134-1G>A (n.134-1G>A) | |
| 3 | g.10375646T>A | CA351784696 | ATP2B2 | c.1067-2A>T (n.1067-2A>T) c.1169-2A>T (n.1169-2A>T) c.1202-2A>T (n.1202-2A>T) c.1109-2A>T (n.1109-2A>T) c.461-2A>T (n.461-2A>T) c.770-2A>T (n.770-2A>T) c.134-2A>T (n.134-2A>T) | |
| 3 | g.10375646T>C | CA351784697 | ATP2B2 | c.1067-2A>G (n.1067-2A>G) c.1169-2A>G (n.1169-2A>G) c.1202-2A>G (n.1202-2A>G) c.1109-2A>G (n.1109-2A>G) c.461-2A>G (n.461-2A>G) c.770-2A>G (n.770-2A>G) c.134-2A>G (n.134-2A>G) | |
| 3 | g.10375646T>G | CA351784698 | ATP2B2 | c.1067-2A>C (n.1067-2A>C) c.1169-2A>C (n.1169-2A>C) c.1202-2A>C (n.1202-2A>C) c.1109-2A>C (n.1109-2A>C) c.461-2A>C (n.461-2A>C) c.770-2A>C (n.770-2A>C) c.134-2A>C (n.134-2A>C) | |
| 3 | g.10375650A>G | CA2664425149 | ATP2B2 | c.1067-6T>C (n.1067-6T>C) c.1169-6T>C (n.1169-6T>C) c.1202-6T>C (n.1202-6T>C) c.1109-6T>C (n.1109-6T>C) c.461-6T>C (n.461-6T>C) c.770-6T>C (n.770-6T>C) c.134-6T>C (n.134-6T>C) | gnomAD v4 |
| 3 | g.10375653T>G | CA2664425150 | ATP2B2 | c.1067-9A>C (n.1067-9A>C) c.1169-9A>C (n.1169-9A>C) c.1202-9A>C (n.1202-9A>C) c.1109-9A>C (n.1109-9A>C) c.461-9A>C (n.461-9A>C) c.770-9A>C (n.770-9A>C) c.134-9A>C (n.134-9A>C) | gnomAD v4 |