| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10375440T>A | CA351784165 | ATP2B2 | c.1271A>T (p.Tyr424Phe) c.1373A>T (p.Tyr458Phe) c.1406A>T (p.Tyr469Phe) c.1313A>T (p.Tyr438Phe) c.665A>T (p.Tyr222Phe) c.974A>T (p.Tyr325Phe) c.338A>T (p.Tyr113Phe) | |
| 3 | g.10375440T>C | CA351784166 | ATP2B2 | c.1271A>G (p.Tyr424Cys) c.1373A>G (p.Tyr458Cys) c.1406A>G (p.Tyr469Cys) c.1313A>G (p.Tyr438Cys) c.665A>G (p.Tyr222Cys) c.974A>G (p.Tyr325Cys) c.338A>G (p.Tyr113Cys) | |
| 3 | g.10375440T>G | CA351784167 | ATP2B2 | c.1271A>C (p.Tyr424Ser) c.1373A>C (p.Tyr458Ser) c.1406A>C (p.Tyr469Ser) c.1313A>C (p.Tyr438Ser) c.665A>C (p.Tyr222Ser) c.974A>C (p.Tyr325Ser) c.338A>C (p.Tyr113Ser) | |
| 3 | g.10375441A>C | CA351784168 | ATP2B2 | c.1270T>G (p.Tyr424Asp) c.1372T>G (p.Tyr458Asp) c.1405T>G (p.Tyr469Asp) c.1312T>G (p.Tyr438Asp) c.664T>G (p.Tyr222Asp) c.973T>G (p.Tyr325Asp) c.337T>G (p.Tyr113Asp) | |
| 3 | g.10375441A>G | CA351784170 | ATP2B2 | c.1270T>C (p.Tyr424His) c.1372T>C (p.Tyr458His) c.1405T>C (p.Tyr469His) c.1312T>C (p.Tyr438His) c.664T>C (p.Tyr222His) c.973T>C (p.Tyr325His) c.337T>C (p.Tyr113His) | ClinVar |
| 3 | g.10375441A>T | CA351784171 | ATP2B2 | c.1270T>A (p.Tyr424Asn) c.1372T>A (p.Tyr458Asn) c.1405T>A (p.Tyr469Asn) c.1312T>A (p.Tyr438Asn) c.664T>A (p.Tyr222Asn) c.973T>A (p.Tyr325Asn) c.337T>A (p.Tyr113Asn) | |
| 3 | g.10375442G>A | CA432440950 | ATP2B2 | c.1269C>T (p.Ala423=) c.1371C>T (p.Ala457=) c.1404C>T (p.Ala468=) c.1311C>T (p.Ala437=) c.663C>T (p.Ala221=) c.972C>T (p.Ala324=) c.336C>T (p.Ala112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375442G>C | CA432440952 | ATP2B2 | c.1269C>G (p.Ala423=) c.1371C>G (p.Ala457=) c.1404C>G (p.Ala468=) c.1311C>G (p.Ala437=) c.663C>G (p.Ala221=) c.972C>G (p.Ala324=) c.336C>G (p.Ala112=) | |
| 3 | g.10375442G= | CA1345182306 | ATP2B2 | c.1269C= (p.Ala423=) c.1371C= (p.Ala457=) c.1404C= (p.Ala468=) c.1311C= (p.Ala437=) c.663C= (p.Ala221=) c.972C= (p.Ala324=) c.336C= (p.Ala112=) | |
| 3 | g.10375442G>T | CA432440953 | ATP2B2 | c.1269C>A (p.Ala423=) c.1371C>A (p.Ala457=) c.1404C>A (p.Ala468=) c.1311C>A (p.Ala437=) c.663C>A (p.Ala221=) c.972C>A (p.Ala324=) c.336C>A (p.Ala112=) | |
| 3 | g.10375443G>A | CA351784172 | ATP2B2 | c.1268C>T (p.Ala423Val) c.1370C>T (p.Ala457Val) c.1403C>T (p.Ala468Val) c.1310C>T (p.Ala437Val) c.662C>T (p.Ala221Val) c.971C>T (p.Ala324Val) c.335C>T (p.Ala112Val) | gnomAD v4 |
| 3 | g.10375443G>C | CA351784173 | ATP2B2 | c.1268C>G (p.Ala423Gly) c.1370C>G (p.Ala457Gly) c.1403C>G (p.Ala468Gly) c.1310C>G (p.Ala437Gly) c.662C>G (p.Ala221Gly) c.971C>G (p.Ala324Gly) c.335C>G (p.Ala112Gly) | |
| 3 | g.10375443G>T | CA351784174 | ATP2B2 | c.1268C>A (p.Ala423Asp) c.1370C>A (p.Ala457Asp) c.1403C>A (p.Ala468Asp) c.1310C>A (p.Ala437Asp) c.662C>A (p.Ala221Asp) c.971C>A (p.Ala324Asp) c.335C>A (p.Ala112Asp) | |
| 3 | g.10375444C>A | CA351784175 | ATP2B2 | c.1267G>T (p.Ala423Ser) c.1369G>T (p.Ala457Ser) c.1402G>T (p.Ala468Ser) c.1309G>T (p.Ala437Ser) c.661G>T (p.Ala221Ser) c.970G>T (p.Ala324Ser) c.334G>T (p.Ala112Ser) | |
| 3 | g.10375444C>G | CA351784177 | ATP2B2 | c.1267G>C (p.Ala423Pro) c.1369G>C (p.Ala457Pro) c.1402G>C (p.Ala468Pro) c.1309G>C (p.Ala437Pro) c.661G>C (p.Ala221Pro) c.970G>C (p.Ala324Pro) c.334G>C (p.Ala112Pro) | |
| 3 | g.10375444C>T | CA351784179 | ATP2B2 | c.1267G>A (p.Ala423Thr) c.1369G>A (p.Ala457Thr) c.1402G>A (p.Ala468Thr) c.1309G>A (p.Ala437Thr) c.661G>A (p.Ala221Thr) c.970G>A (p.Ala324Thr) c.334G>A (p.Ala112Thr) | |
| 3 | g.10375445C>A | CA351784180 | ATP2B2 | c.1266G>T (p.Leu422Phe) c.1368G>T (p.Leu456Phe) c.1401G>T (p.Leu467Phe) c.1308G>T (p.Leu436Phe) c.660G>T (p.Leu220Phe) c.969G>T (p.Leu323Phe) c.333G>T (p.Leu111Phe) | |
| 3 | g.10375445C= | CA1345182310 | ATP2B2 | c.1266G= (p.Leu422=) c.1368G= (p.Leu456=) c.1401G= (p.Leu467=) c.1308G= (p.Leu436=) c.660G= (p.Leu220=) c.969G= (p.Leu323=) c.333G= (p.Leu111=) | |
| 3 | g.10375445C>G | CA351784182 | ATP2B2 | c.1266G>C (p.Leu422Phe) c.1368G>C (p.Leu456Phe) c.1401G>C (p.Leu467Phe) c.1308G>C (p.Leu436Phe) c.660G>C (p.Leu220Phe) c.969G>C (p.Leu323Phe) c.333G>C (p.Leu111Phe) | |
| 3 | g.10375445C>T | CA2253682 | ATP2B2 | c.1266G>A (p.Leu422=) c.1368G>A (p.Leu456=) c.1401G>A (p.Leu467=) c.1308G>A (p.Leu436=) c.660G>A (p.Leu220=) c.969G>A (p.Leu323=) c.333G>A (p.Leu111=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375446A>C | CA351784184 | ATP2B2 | c.1265T>G (p.Leu422Trp) c.1367T>G (p.Leu456Trp) c.1400T>G (p.Leu467Trp) c.1307T>G (p.Leu436Trp) c.659T>G (p.Leu220Trp) c.968T>G (p.Leu323Trp) c.332T>G (p.Leu111Trp) | |
| 3 | g.10375446A>G | CA351784185 | ATP2B2 | c.1265T>C (p.Leu422Ser) c.1367T>C (p.Leu456Ser) c.1400T>C (p.Leu467Ser) c.1307T>C (p.Leu436Ser) c.659T>C (p.Leu220Ser) c.968T>C (p.Leu323Ser) c.332T>C (p.Leu111Ser) | |
| 3 | g.10375446A>T | CA351784186 | ATP2B2 | c.1265T>A (p.Leu422Ter) c.1367T>A (p.Leu456Ter) c.1400T>A (p.Leu467Ter) c.1307T>A (p.Leu436Ter) c.659T>A (p.Leu220Ter) c.968T>A (p.Leu323Ter) c.332T>A (p.Leu111Ter) | |
| 3 | g.10375447A>C | CA351784187 | ATP2B2 | c.1264T>G (p.Leu422Val) c.1366T>G (p.Leu456Val) c.1399T>G (p.Leu467Val) c.1306T>G (p.Leu436Val) c.658T>G (p.Leu220Val) c.967T>G (p.Leu323Val) c.331T>G (p.Leu111Val) | |
| 3 | g.10375447A>G | CA432440965 | ATP2B2 | c.1264T>C (p.Leu422=) c.1366T>C (p.Leu456=) c.1399T>C (p.Leu467=) c.1306T>C (p.Leu436=) c.658T>C (p.Leu220=) c.967T>C (p.Leu323=) c.331T>C (p.Leu111=) | |
| 3 | g.10375447A>T | CA351784188 | ATP2B2 | c.1264T>A (p.Leu422Met) c.1366T>A (p.Leu456Met) c.1399T>A (p.Leu467Met) c.1306T>A (p.Leu436Met) c.658T>A (p.Leu220Met) c.967T>A (p.Leu323Met) c.331T>A (p.Leu111Met) | |
| 3 | g.10375448C>A | CA432440968 | ATP2B2 | c.1263G>T (p.Ser421=) c.1365G>T (p.Ser455=) c.1398G>T (p.Ser466=) c.1305G>T (p.Ser435=) c.657G>T (p.Ser219=) c.966G>T (p.Ser322=) c.330G>T (p.Ser110=) | |
| 3 | g.10375448C= | CA1345182313 | ATP2B2 | c.1263G= (p.Ser421=) c.1365G= (p.Ser455=) c.1398G= (p.Ser466=) c.1305G= (p.Ser435=) c.657G= (p.Ser219=) c.966G= (p.Ser322=) c.330G= (p.Ser110=) | |
| 3 | g.10375448C>G | CA432440970 | ATP2B2 | c.1263G>C (p.Ser421=) c.1365G>C (p.Ser455=) c.1398G>C (p.Ser466=) c.1305G>C (p.Ser435=) c.657G>C (p.Ser219=) c.966G>C (p.Ser322=) c.330G>C (p.Ser110=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375448C>T | CA2253683 | ATP2B2 | c.1263G>A (p.Ser421=) c.1365G>A (p.Ser455=) c.1398G>A (p.Ser466=) c.1305G>A (p.Ser435=) c.657G>A (p.Ser219=) c.966G>A (p.Ser322=) c.330G>A (p.Ser110=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375449G>A | CA351784192 | ATP2B2 | c.1262C>T (p.Ser421Leu) c.1364C>T (p.Ser455Leu) c.1397C>T (p.Ser466Leu) c.1304C>T (p.Ser435Leu) c.656C>T (p.Ser219Leu) c.965C>T (p.Ser322Leu) c.329C>T (p.Ser110Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375449G>C | CA351784191 | ATP2B2 | c.1262C>G (p.Ser421Trp) c.1364C>G (p.Ser455Trp) c.1397C>G (p.Ser466Trp) c.1304C>G (p.Ser435Trp) c.656C>G (p.Ser219Trp) c.965C>G (p.Ser322Trp) c.329C>G (p.Ser110Trp) | |
| 3 | g.10375449G= | CA1345182315 | ATP2B2 | c.1262C= (p.Ser421=) c.1364C= (p.Ser455=) c.1397C= (p.Ser466=) c.1304C= (p.Ser435=) c.656C= (p.Ser219=) c.965C= (p.Ser322=) c.329C= (p.Ser110=) | |
| 3 | g.10375449G>T | CA351784190 | ATP2B2 | c.1262C>A (p.Ser421Ter) c.1364C>A (p.Ser455Ter) c.1397C>A (p.Ser466Ter) c.1304C>A (p.Ser435Ter) c.656C>A (p.Ser219Ter) c.965C>A (p.Ser322Ter) c.329C>A (p.Ser110Ter) | |
| 3 | g.10375450A>C | CA351784195 | ATP2B2 | c.1261T>G (p.Ser421Ala) c.1363T>G (p.Ser455Ala) c.1396T>G (p.Ser466Ala) c.1303T>G (p.Ser435Ala) c.655T>G (p.Ser219Ala) c.964T>G (p.Ser322Ala) c.328T>G (p.Ser110Ala) | |
| 3 | g.10375450A>G | CA351784196 | ATP2B2 | c.1261T>C (p.Ser421Pro) c.1363T>C (p.Ser455Pro) c.1396T>C (p.Ser466Pro) c.1303T>C (p.Ser435Pro) c.655T>C (p.Ser219Pro) c.964T>C (p.Ser322Pro) c.328T>C (p.Ser110Pro) | |
| 3 | g.10375450A>T | CA351784197 | ATP2B2 | c.1261T>A (p.Ser421Thr) c.1363T>A (p.Ser455Thr) c.1396T>A (p.Ser466Thr) c.1303T>A (p.Ser435Thr) c.655T>A (p.Ser219Thr) c.964T>A (p.Ser322Thr) c.328T>A (p.Ser110Thr) | |
| 3 | g.10375451G>A | CA432440979 | ATP2B2 | c.1260C>T (p.Ile420=) c.1362C>T (p.Ile454=) c.1395C>T (p.Ile465=) c.1302C>T (p.Ile434=) c.654C>T (p.Ile218=) c.963C>T (p.Ile321=) c.327C>T (p.Ile109=) | |
| 3 | g.10375451G>C | CA351784199 | ATP2B2 | c.1260C>G (p.Ile420Met) c.1362C>G (p.Ile454Met) c.1395C>G (p.Ile465Met) c.1302C>G (p.Ile434Met) c.654C>G (p.Ile218Met) c.963C>G (p.Ile321Met) c.327C>G (p.Ile109Met) | |
| 3 | g.10375451G>T | CA432440981 | ATP2B2 | c.1260C>A (p.Ile420=) c.1362C>A (p.Ile454=) c.1395C>A (p.Ile465=) c.1302C>A (p.Ile434=) c.654C>A (p.Ile218=) c.963C>A (p.Ile321=) c.327C>A (p.Ile109=) | |
| 3 | g.10375452A>C | CA351784201 | ATP2B2 | c.1259T>G (p.Ile420Ser) c.1361T>G (p.Ile454Ser) c.1394T>G (p.Ile465Ser) c.1301T>G (p.Ile434Ser) c.653T>G (p.Ile218Ser) c.962T>G (p.Ile321Ser) c.326T>G (p.Ile109Ser) | |
| 3 | g.10375452A>G | CA351784203 | ATP2B2 | c.1259T>C (p.Ile420Thr) c.1361T>C (p.Ile454Thr) c.1394T>C (p.Ile465Thr) c.1301T>C (p.Ile434Thr) c.653T>C (p.Ile218Thr) c.962T>C (p.Ile321Thr) c.326T>C (p.Ile109Thr) | |
| 3 | g.10375452A>T | CA351784204 | ATP2B2 | c.1259T>A (p.Ile420Asn) c.1361T>A (p.Ile454Asn) c.1394T>A (p.Ile465Asn) c.1301T>A (p.Ile434Asn) c.653T>A (p.Ile218Asn) c.962T>A (p.Ile321Asn) c.326T>A (p.Ile109Asn) | |
| 3 | g.10375453T>A | CA351784207 | ATP2B2 | c.1258A>T (p.Ile420Phe) c.1360A>T (p.Ile454Phe) c.1393A>T (p.Ile465Phe) c.1300A>T (p.Ile434Phe) c.652A>T (p.Ile218Phe) c.961A>T (p.Ile321Phe) c.325A>T (p.Ile109Phe) | |
| 3 | g.10375453T>C | CA351784210 | ATP2B2 | c.1258A>G (p.Ile420Val) c.1360A>G (p.Ile454Val) c.1393A>G (p.Ile465Val) c.1300A>G (p.Ile434Val) c.652A>G (p.Ile218Val) c.961A>G (p.Ile321Val) c.325A>G (p.Ile109Val) | dbSNP |
| 3 | g.10375453T>G | CA351784208 | ATP2B2 | c.1258A>C (p.Ile420Leu) c.1360A>C (p.Ile454Leu) c.1393A>C (p.Ile465Leu) c.1300A>C (p.Ile434Leu) c.652A>C (p.Ile218Leu) c.961A>C (p.Ile321Leu) c.325A>C (p.Ile109Leu) | |
| 3 | g.10375453T= | CA1345182318 | ATP2B2 | c.1258A= (p.Ile420=) c.1360A= (p.Ile454=) c.1393A= (p.Ile465=) c.1300A= (p.Ile434=) c.652A= (p.Ile218=) c.961A= (p.Ile321=) c.325A= (p.Ile109=) | |
| 3 | g.10375454G>A | CA432440990 | ATP2B2 | c.1257C>T (p.Thr419=) c.1359C>T (p.Thr453=) c.1392C>T (p.Thr464=) c.1299C>T (p.Thr433=) c.651C>T (p.Thr217=) c.960C>T (p.Thr320=) c.324C>T (p.Thr108=) | |
| 3 | g.10375454G>C | CA432440992 | ATP2B2 | c.1257C>G (p.Thr419=) c.1359C>G (p.Thr453=) c.1392C>G (p.Thr464=) c.1299C>G (p.Thr433=) c.651C>G (p.Thr217=) c.960C>G (p.Thr320=) c.324C>G (p.Thr108=) | |
| 3 | g.10375454G= | CA1345182322 | ATP2B2 | c.1257C= (p.Thr419=) c.1359C= (p.Thr453=) c.1392C= (p.Thr464=) c.1299C= (p.Thr433=) c.651C= (p.Thr217=) c.960C= (p.Thr320=) c.324C= (p.Thr108=) | |
| 3 | g.10375454G>T | CA432440993 | ATP2B2 | c.1257C>A (p.Thr419=) c.1359C>A (p.Thr453=) c.1392C>A (p.Thr464=) c.1299C>A (p.Thr433=) c.651C>A (p.Thr217=) c.960C>A (p.Thr320=) c.324C>A (p.Thr108=) | dbSNP gnomAD v2 |
| 3 | g.10375455G>A | CA351784211 | ATP2B2 | c.1256C>T (p.Thr419Ile) c.1358C>T (p.Thr453Ile) c.1391C>T (p.Thr464Ile) c.1298C>T (p.Thr433Ile) c.650C>T (p.Thr217Ile) c.959C>T (p.Thr320Ile) c.323C>T (p.Thr108Ile) | gnomAD v4 |
| 3 | g.10375455G>C | CA351784213 | ATP2B2 | c.1256C>G (p.Thr419Ser) c.1358C>G (p.Thr453Ser) c.1391C>G (p.Thr464Ser) c.1298C>G (p.Thr433Ser) c.650C>G (p.Thr217Ser) c.959C>G (p.Thr320Ser) c.323C>G (p.Thr108Ser) | |
| 3 | g.10375455G>T | CA351784215 | ATP2B2 | c.1256C>A (p.Thr419Asn) c.1358C>A (p.Thr453Asn) c.1391C>A (p.Thr464Asn) c.1298C>A (p.Thr433Asn) c.650C>A (p.Thr217Asn) c.959C>A (p.Thr320Asn) c.323C>A (p.Thr108Asn) | |
| 3 | g.10375456T>A | CA351784217 | ATP2B2 | c.1255A>T (p.Thr419Ser) c.1357A>T (p.Thr453Ser) c.1390A>T (p.Thr464Ser) c.1297A>T (p.Thr433Ser) c.649A>T (p.Thr217Ser) c.958A>T (p.Thr320Ser) c.322A>T (p.Thr108Ser) | |
| 3 | g.10375456T>C | CA351784218 | ATP2B2 | c.1255A>G (p.Thr419Ala) c.1357A>G (p.Thr453Ala) c.1390A>G (p.Thr464Ala) c.1297A>G (p.Thr433Ala) c.649A>G (p.Thr217Ala) c.958A>G (p.Thr320Ala) c.322A>G (p.Thr108Ala) | |
| 3 | g.10375456T>G | CA351784219 | ATP2B2 | c.1255A>C (p.Thr419Pro) c.1357A>C (p.Thr453Pro) c.1390A>C (p.Thr464Pro) c.1297A>C (p.Thr433Pro) c.649A>C (p.Thr217Pro) c.958A>C (p.Thr320Pro) c.322A>C (p.Thr108Pro) | dbSNP |
| 3 | g.10375456T= | CA1345182326 | ATP2B2 | c.1255A= (p.Thr419=) c.1357A= (p.Thr453=) c.1390A= (p.Thr464=) c.1297A= (p.Thr433=) c.649A= (p.Thr217=) c.958A= (p.Thr320=) c.322A= (p.Thr108=) | |
| 3 | g.10375457G>A | CA432441000 | ATP2B2 | c.1254C>T (p.Val418=) c.1356C>T (p.Val452=) c.1389C>T (p.Val463=) c.1296C>T (p.Val432=) c.648C>T (p.Val216=) c.957C>T (p.Val319=) c.321C>T (p.Val107=) | |
| 3 | g.10375457G>C | CA432441002 | ATP2B2 | c.1254C>G (p.Val418=) c.1356C>G (p.Val452=) c.1389C>G (p.Val463=) c.1296C>G (p.Val432=) c.648C>G (p.Val216=) c.957C>G (p.Val319=) c.321C>G (p.Val107=) | |
| 3 | g.10375457G>T | CA432441004 | ATP2B2 | c.1254C>A (p.Val418=) c.1356C>A (p.Val452=) c.1389C>A (p.Val463=) c.1296C>A (p.Val432=) c.648C>A (p.Val216=) c.957C>A (p.Val319=) c.321C>A (p.Val107=) | |
| 3 | g.10375458A= | CA1345182331 | ATP2B2 | c.1253T= (p.Val418=) c.1355T= (p.Val452=) c.1388T= (p.Val463=) c.1295T= (p.Val432=) c.647T= (p.Val216=) c.956T= (p.Val319=) c.320T= (p.Val107=) | |
| 3 | g.10375458A>C | CA351784220 | ATP2B2 | c.1253T>G (p.Val418Gly) c.1355T>G (p.Val452Gly) c.1388T>G (p.Val463Gly) c.1295T>G (p.Val432Gly) c.647T>G (p.Val216Gly) c.956T>G (p.Val319Gly) c.320T>G (p.Val107Gly) | |
| 3 | g.10375458A>G | CA2253684 | ATP2B2 | c.1253T>C (p.Val418Ala) c.1355T>C (p.Val452Ala) c.1388T>C (p.Val463Ala) c.1295T>C (p.Val432Ala) c.647T>C (p.Val216Ala) c.956T>C (p.Val319Ala) c.320T>C (p.Val107Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375458A>T | CA351784223 | ATP2B2 | c.1253T>A (p.Val418Asp) c.1355T>A (p.Val452Asp) c.1388T>A (p.Val463Asp) c.1295T>A (p.Val432Asp) c.647T>A (p.Val216Asp) c.956T>A (p.Val319Asp) c.320T>A (p.Val107Asp) | |
| 3 | g.10375459C>A | CA351784224 | ATP2B2 | c.1252G>T (p.Val418Phe) c.1354G>T (p.Val452Phe) c.1387G>T (p.Val463Phe) c.1294G>T (p.Val432Phe) c.646G>T (p.Val216Phe) c.955G>T (p.Val319Phe) c.319G>T (p.Val107Phe) | |
| 3 | g.10375459C= | CA1345182336 | ATP2B2 | c.1252G= (p.Val418=) c.1354G= (p.Val452=) c.1387G= (p.Val463=) c.1294G= (p.Val432=) c.646G= (p.Val216=) c.955G= (p.Val319=) c.319G= (p.Val107=) | |
| 3 | g.10375459C>G | CA351784225 | ATP2B2 | c.1252G>C (p.Val418Leu) c.1354G>C (p.Val452Leu) c.1387G>C (p.Val463Leu) c.1294G>C (p.Val432Leu) c.646G>C (p.Val216Leu) c.955G>C (p.Val319Leu) c.319G>C (p.Val107Leu) | |
| 3 | g.10375459C>T | CA2253685 | ATP2B2 | c.1252G>A (p.Val418Ile) c.1354G>A (p.Val452Ile) c.1387G>A (p.Val463Ile) c.1294G>A (p.Val432Ile) c.646G>A (p.Val216Ile) c.955G>A (p.Val319Ile) c.319G>A (p.Val107Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.10375460G>A | CA432441011 | ATP2B2 | c.1251C>T (p.Ala417=) c.1353C>T (p.Ala451=) c.1386C>T (p.Ala462=) c.1293C>T (p.Ala431=) c.645C>T (p.Ala215=) c.954C>T (p.Ala318=) c.318C>T (p.Ala106=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375460G>C | CA432441013 | ATP2B2 | c.1251C>G (p.Ala417=) c.1353C>G (p.Ala451=) c.1386C>G (p.Ala462=) c.1293C>G (p.Ala431=) c.645C>G (p.Ala215=) c.954C>G (p.Ala318=) c.318C>G (p.Ala106=) | |
| 3 | g.10375460G= | CA1345182339 | ATP2B2 | c.1251C= (p.Ala417=) c.1353C= (p.Ala451=) c.1386C= (p.Ala462=) c.1293C= (p.Ala431=) c.645C= (p.Ala215=) c.954C= (p.Ala318=) c.318C= (p.Ala106=) | |
| 3 | g.10375460G>T | CA432441014 | ATP2B2 | c.1251C>A (p.Ala417=) c.1353C>A (p.Ala451=) c.1386C>A (p.Ala462=) c.1293C>A (p.Ala431=) c.645C>A (p.Ala215=) c.954C>A (p.Ala318=) c.318C>A (p.Ala106=) | |
| 3 | g.10375461G>A | CA351784227 | ATP2B2 | c.1250C>T (p.Ala417Val) c.1352C>T (p.Ala451Val) c.1385C>T (p.Ala462Val) c.1292C>T (p.Ala431Val) c.644C>T (p.Ala215Val) c.953C>T (p.Ala318Val) c.317C>T (p.Ala106Val) | COSMIC COSMIC |
| 3 | g.10375461G>C | CA351784230 | ATP2B2 | c.1250C>G (p.Ala417Gly) c.1352C>G (p.Ala451Gly) c.1385C>G (p.Ala462Gly) c.1292C>G (p.Ala431Gly) c.644C>G (p.Ala215Gly) c.953C>G (p.Ala318Gly) c.317C>G (p.Ala106Gly) | |
| 3 | g.10375461G>T | CA351784229 | ATP2B2 | c.1250C>A (p.Ala417Asp) c.1352C>A (p.Ala451Asp) c.1385C>A (p.Ala462Asp) c.1292C>A (p.Ala431Asp) c.644C>A (p.Ala215Asp) c.953C>A (p.Ala318Asp) c.317C>A (p.Ala106Asp) | |
| 3 | g.10375462C>A | CA351784231 | ATP2B2 | c.1249G>T (p.Ala417Ser) c.1351G>T (p.Ala451Ser) c.1384G>T (p.Ala462Ser) c.1291G>T (p.Ala431Ser) c.643G>T (p.Ala215Ser) c.952G>T (p.Ala318Ser) c.316G>T (p.Ala106Ser) | |
| 3 | g.10375462C>G | CA351784232 | ATP2B2 | c.1249G>C (p.Ala417Pro) c.1351G>C (p.Ala451Pro) c.1384G>C (p.Ala462Pro) c.1291G>C (p.Ala431Pro) c.643G>C (p.Ala215Pro) c.952G>C (p.Ala318Pro) c.316G>C (p.Ala106Pro) | |
| 3 | g.10375462C>T | CA351784234 | ATP2B2 | c.1249G>A (p.Ala417Thr) c.1351G>A (p.Ala451Thr) c.1384G>A (p.Ala462Thr) c.1291G>A (p.Ala431Thr) c.643G>A (p.Ala215Thr) c.952G>A (p.Ala318Thr) c.316G>A (p.Ala106Thr) | |
| 3 | g.10375463C>A | CA432441021 | ATP2B2 | c.1248G>T (p.Leu416=) c.1350G>T (p.Leu450=) c.1383G>T (p.Leu461=) c.1290G>T (p.Leu430=) c.642G>T (p.Leu214=) c.951G>T (p.Leu317=) c.315G>T (p.Leu105=) | |
| 3 | g.10375463C>G | CA432441023 | ATP2B2 | c.1248G>C (p.Leu416=) c.1350G>C (p.Leu450=) c.1383G>C (p.Leu461=) c.1290G>C (p.Leu430=) c.642G>C (p.Leu214=) c.951G>C (p.Leu317=) c.315G>C (p.Leu105=) | |
| 3 | g.10375463C>T | CA432441025 | ATP2B2 | c.1248G>A (p.Leu416=) c.1350G>A (p.Leu450=) c.1383G>A (p.Leu461=) c.1290G>A (p.Leu430=) c.642G>A (p.Leu214=) c.951G>A (p.Leu317=) c.315G>A (p.Leu105=) | |
| 3 | g.10375464A>C | CA351784236 | ATP2B2 | c.1247T>G (p.Leu416Arg) c.1349T>G (p.Leu450Arg) c.1382T>G (p.Leu461Arg) c.1289T>G (p.Leu430Arg) c.641T>G (p.Leu214Arg) c.950T>G (p.Leu317Arg) c.314T>G (p.Leu105Arg) | |
| 3 | g.10375464A>G | CA351784237 | ATP2B2 | c.1247T>C (p.Leu416Pro) c.1349T>C (p.Leu450Pro) c.1382T>C (p.Leu461Pro) c.1289T>C (p.Leu430Pro) c.641T>C (p.Leu214Pro) c.950T>C (p.Leu317Pro) c.314T>C (p.Leu105Pro) | |
| 3 | g.10375464A>T | CA351784239 | ATP2B2 | c.1247T>A (p.Leu416Gln) c.1349T>A (p.Leu450Gln) c.1382T>A (p.Leu461Gln) c.1289T>A (p.Leu430Gln) c.641T>A (p.Leu214Gln) c.950T>A (p.Leu317Gln) c.314T>A (p.Leu105Gln) | |
| 3 | g.10375465G>A | CA432441029 | ATP2B2 | c.1246C>T (p.Leu416=) c.1348C>T (p.Leu450=) c.1381C>T (p.Leu461=) c.1288C>T (p.Leu430=) c.640C>T (p.Leu214=) c.949C>T (p.Leu317=) c.313C>T (p.Leu105=) | |
| 3 | g.10375465G>C | CA351784243 | ATP2B2 | c.1246C>G (p.Leu416Val) c.1348C>G (p.Leu450Val) c.1381C>G (p.Leu461Val) c.1288C>G (p.Leu430Val) c.640C>G (p.Leu214Val) c.949C>G (p.Leu317Val) c.313C>G (p.Leu105Val) | |
| 3 | g.10375465G>T | CA351784241 | ATP2B2 | c.1246C>A (p.Leu416Met) c.1348C>A (p.Leu450Met) c.1381C>A (p.Leu461Met) c.1288C>A (p.Leu430Met) c.640C>A (p.Leu214Met) c.949C>A (p.Leu317Met) c.313C>A (p.Leu105Met) | |
| 3 | g.10375466A>C | CA432441033 | ATP2B2 | c.1245T>G (p.Pro415=) c.1347T>G (p.Pro449=) c.1380T>G (p.Pro460=) c.1287T>G (p.Pro429=) c.639T>G (p.Pro213=) c.948T>G (p.Pro316=) c.312T>G (p.Pro104=) | |
| 3 | g.10375466A>G | CA432441035 | ATP2B2 | c.1245T>C (p.Pro415=) c.1347T>C (p.Pro449=) c.1380T>C (p.Pro460=) c.1287T>C (p.Pro429=) c.639T>C (p.Pro213=) c.948T>C (p.Pro316=) c.312T>C (p.Pro104=) | |
| 3 | g.10375466A>T | CA432441036 | ATP2B2 | c.1245T>A (p.Pro415=) c.1347T>A (p.Pro449=) c.1380T>A (p.Pro460=) c.1287T>A (p.Pro429=) c.639T>A (p.Pro213=) c.948T>A (p.Pro316=) c.312T>A (p.Pro104=) | |
| 3 | g.10375467G>A | CA351784244 | ATP2B2 | c.1244C>T (p.Pro415Leu) c.1346C>T (p.Pro449Leu) c.1379C>T (p.Pro460Leu) c.1286C>T (p.Pro429Leu) c.638C>T (p.Pro213Leu) c.947C>T (p.Pro316Leu) c.311C>T (p.Pro104Leu) | |
| 3 | g.10375467G>C | CA351784246 | ATP2B2 | c.1244C>G (p.Pro415Arg) c.1346C>G (p.Pro449Arg) c.1379C>G (p.Pro460Arg) c.1286C>G (p.Pro429Arg) c.638C>G (p.Pro213Arg) c.947C>G (p.Pro316Arg) c.311C>G (p.Pro104Arg) | |
| 3 | g.10375467G>T | CA351784247 | ATP2B2 | c.1244C>A (p.Pro415His) c.1346C>A (p.Pro449His) c.1379C>A (p.Pro460His) c.1286C>A (p.Pro429His) c.638C>A (p.Pro213His) c.947C>A (p.Pro316His) c.311C>A (p.Pro104His) | |
| 3 | g.10375468G>A | CA351784249 | ATP2B2 | c.1243C>T (p.Pro415Ser) c.1345C>T (p.Pro449Ser) c.1378C>T (p.Pro460Ser) c.1285C>T (p.Pro429Ser) c.637C>T (p.Pro213Ser) c.946C>T (p.Pro316Ser) c.310C>T (p.Pro104Ser) | |
| 3 | g.10375468G>C | CA351784251 | ATP2B2 | c.1243C>G (p.Pro415Ala) c.1345C>G (p.Pro449Ala) c.1378C>G (p.Pro460Ala) c.1285C>G (p.Pro429Ala) c.637C>G (p.Pro213Ala) c.946C>G (p.Pro316Ala) c.310C>G (p.Pro104Ala) | |
| 3 | g.10375468G>T | CA351784252 | ATP2B2 | c.1243C>A (p.Pro415Thr) c.1345C>A (p.Pro449Thr) c.1378C>A (p.Pro460Thr) c.1285C>A (p.Pro429Thr) c.637C>A (p.Pro213Thr) c.946C>A (p.Pro316Thr) c.310C>A (p.Pro104Thr) | |
| 3 | g.10375469G>A | CA432441043 | ATP2B2 | c.1242C>T (p.Leu414=) c.1344C>T (p.Leu448=) c.1377C>T (p.Leu459=) c.1284C>T (p.Leu428=) c.636C>T (p.Leu212=) c.945C>T (p.Leu315=) c.309C>T (p.Leu103=) | dbSNP gnomAD v4 |
| 3 | g.10375469G>C | CA432441045 | ATP2B2 | c.1242C>G (p.Leu414=) c.1344C>G (p.Leu448=) c.1377C>G (p.Leu459=) c.1284C>G (p.Leu428=) c.636C>G (p.Leu212=) c.945C>G (p.Leu315=) c.309C>G (p.Leu103=) | |
| 3 | g.10375469G= | CA1345182343 | ATP2B2 | c.1242C= (p.Leu414=) c.1344C= (p.Leu448=) c.1377C= (p.Leu459=) c.1284C= (p.Leu428=) c.636C= (p.Leu212=) c.945C= (p.Leu315=) c.309C= (p.Leu103=) | |
| 3 | g.10375469G>T | CA432441047 | ATP2B2 | c.1242C>A (p.Leu414=) c.1344C>A (p.Leu448=) c.1377C>A (p.Leu459=) c.1284C>A (p.Leu428=) c.636C>A (p.Leu212=) c.945C>A (p.Leu315=) c.309C>A (p.Leu103=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375470A>C | CA351784254 | ATP2B2 | c.1241T>G (p.Leu414Arg) c.1343T>G (p.Leu448Arg) c.1376T>G (p.Leu459Arg) c.1283T>G (p.Leu428Arg) c.635T>G (p.Leu212Arg) c.944T>G (p.Leu315Arg) c.308T>G (p.Leu103Arg) | |
| 3 | g.10375470A>G | CA351784257 | ATP2B2 | c.1241T>C (p.Leu414Pro) c.1343T>C (p.Leu448Pro) c.1376T>C (p.Leu459Pro) c.1283T>C (p.Leu428Pro) c.635T>C (p.Leu212Pro) c.944T>C (p.Leu315Pro) c.308T>C (p.Leu103Pro) | |
| 3 | g.10375470A>T | CA351784256 | ATP2B2 | c.1241T>A (p.Leu414His) c.1343T>A (p.Leu448His) c.1376T>A (p.Leu459His) c.1283T>A (p.Leu428His) c.635T>A (p.Leu212His) c.944T>A (p.Leu315His) c.308T>A (p.Leu103His) | |
| 3 | g.10375471G>A | CA351784258 | ATP2B2 | c.1240C>T (p.Leu414Phe) c.1342C>T (p.Leu448Phe) c.1375C>T (p.Leu459Phe) c.1282C>T (p.Leu428Phe) c.634C>T (p.Leu212Phe) c.943C>T (p.Leu315Phe) c.307C>T (p.Leu103Phe) | |
| 3 | g.10375471G>C | CA351784259 | ATP2B2 | c.1240C>G (p.Leu414Val) c.1342C>G (p.Leu448Val) c.1375C>G (p.Leu459Val) c.1282C>G (p.Leu428Val) c.634C>G (p.Leu212Val) c.943C>G (p.Leu315Val) c.307C>G (p.Leu103Val) | |
| 3 | g.10375471G>T | CA351784261 | ATP2B2 | c.1240C>A (p.Leu414Ile) c.1342C>A (p.Leu448Ile) c.1375C>A (p.Leu459Ile) c.1282C>A (p.Leu428Ile) c.634C>A (p.Leu212Ile) c.943C>A (p.Leu315Ile) c.307C>A (p.Leu103Ile) | |
| 3 | g.10375472C>A | CA432441056 | ATP2B2 | c.1239G>T (p.Gly413=) c.1341G>T (p.Gly447=) c.1374G>T (p.Gly458=) c.1281G>T (p.Gly427=) c.633G>T (p.Gly211=) c.942G>T (p.Gly314=) c.306G>T (p.Gly102=) | |
| 3 | g.10375472C= | CA1345182345 | ATP2B2 | c.1239G= (p.Gly413=) c.1341G= (p.Gly447=) c.1374G= (p.Gly458=) c.1281G= (p.Gly427=) c.633G= (p.Gly211=) c.942G= (p.Gly314=) c.306G= (p.Gly102=) | |
| 3 | g.10375472C>G | CA432441054 | ATP2B2 | c.1239G>C (p.Gly413=) c.1341G>C (p.Gly447=) c.1374G>C (p.Gly458=) c.1281G>C (p.Gly427=) c.633G>C (p.Gly211=) c.942G>C (p.Gly314=) c.306G>C (p.Gly102=) | dbSNP gnomAD v2 |
| 3 | g.10375472C>T | CA432441052 | ATP2B2 | c.1239G>A (p.Gly413=) c.1341G>A (p.Gly447=) c.1374G>A (p.Gly458=) c.1281G>A (p.Gly427=) c.633G>A (p.Gly211=) c.942G>A (p.Gly314=) c.306G>A (p.Gly102=) | |
| 3 | g.10375473C>A | CA351784263 | ATP2B2 | c.1238G>T (p.Gly413Val) c.1340G>T (p.Gly447Val) c.1373G>T (p.Gly458Val) c.1280G>T (p.Gly427Val) c.632G>T (p.Gly211Val) c.941G>T (p.Gly314Val) c.305G>T (p.Gly102Val) | gnomAD v4 |
| 3 | g.10375473C>G | CA351784265 | ATP2B2 | c.1238G>C (p.Gly413Ala) c.1340G>C (p.Gly447Ala) c.1373G>C (p.Gly458Ala) c.1280G>C (p.Gly427Ala) c.632G>C (p.Gly211Ala) c.941G>C (p.Gly314Ala) c.305G>C (p.Gly102Ala) | |
| 3 | g.10375473C>T | CA351784266 | ATP2B2 | c.1238G>A (p.Gly413Glu) c.1340G>A (p.Gly447Glu) c.1373G>A (p.Gly458Glu) c.1280G>A (p.Gly427Glu) c.632G>A (p.Gly211Glu) c.941G>A (p.Gly314Glu) c.305G>A (p.Gly102Glu) | gnomAD v4 COSMIC COSMIC |
| 3 | g.10375474C>A | CA351784268 | ATP2B2 | c.1237G>T (p.Gly413Trp) c.1339G>T (p.Gly447Trp) c.1372G>T (p.Gly458Trp) c.1279G>T (p.Gly427Trp) c.631G>T (p.Gly211Trp) c.940G>T (p.Gly314Trp) c.304G>T (p.Gly102Trp) | |
| 3 | g.10375474C>G | CA351784270 | ATP2B2 | c.1237G>C (p.Gly413Arg) c.1339G>C (p.Gly447Arg) c.1372G>C (p.Gly458Arg) c.1279G>C (p.Gly427Arg) c.631G>C (p.Gly211Arg) c.940G>C (p.Gly314Arg) c.304G>C (p.Gly102Arg) | |
| 3 | g.10375474C>T | CA351784272 | ATP2B2 | c.1237G>A (p.Gly413Arg) c.1339G>A (p.Gly447Arg) c.1372G>A (p.Gly458Arg) c.1279G>A (p.Gly427Arg) c.631G>A (p.Gly211Arg) c.940G>A (p.Gly314Arg) c.304G>A (p.Gly102Arg) | |
| 3 | g.10375475C>A | CA351784273 | ATP2B2 | c.1236G>T (p.Glu412Asp) c.1338G>T (p.Glu446Asp) c.1371G>T (p.Glu457Asp) c.1278G>T (p.Glu426Asp) c.630G>T (p.Glu210Asp) c.939G>T (p.Glu313Asp) c.303G>T (p.Glu101Asp) | |
| 3 | g.10375475C>G | CA351784275 | ATP2B2 | c.1236G>C (p.Glu412Asp) c.1338G>C (p.Glu446Asp) c.1371G>C (p.Glu457Asp) c.1278G>C (p.Glu426Asp) c.630G>C (p.Glu210Asp) c.939G>C (p.Glu313Asp) c.303G>C (p.Glu101Asp) | |
| 3 | g.10375475C>T | CA432441062 | ATP2B2 | c.1236G>A (p.Glu412=) c.1338G>A (p.Glu446=) c.1371G>A (p.Glu457=) c.1278G>A (p.Glu426=) c.630G>A (p.Glu210=) c.939G>A (p.Glu313=) c.303G>A (p.Glu101=) | gnomAD v4 |
| 3 | g.10375476T>A | CA351784277 | ATP2B2 | c.1235A>T (p.Glu412Val) c.1337A>T (p.Glu446Val) c.1370A>T (p.Glu457Val) c.1277A>T (p.Glu426Val) c.629A>T (p.Glu210Val) c.938A>T (p.Glu313Val) c.302A>T (p.Glu101Val) | |
| 3 | g.10375476T>C | CA351784280 | ATP2B2 | c.1235A>G (p.Glu412Gly) c.1337A>G (p.Glu446Gly) c.1370A>G (p.Glu457Gly) c.1277A>G (p.Glu426Gly) c.629A>G (p.Glu210Gly) c.938A>G (p.Glu313Gly) c.302A>G (p.Glu101Gly) | |
| 3 | g.10375476T>G | CA351784278 | ATP2B2 | c.1235A>C (p.Glu412Ala) c.1337A>C (p.Glu446Ala) c.1370A>C (p.Glu457Ala) c.1277A>C (p.Glu426Ala) c.629A>C (p.Glu210Ala) c.938A>C (p.Glu313Ala) c.302A>C (p.Glu101Ala) | |
| 3 | g.10375477C>A | CA351784282 | ATP2B2 | c.1234G>T (p.Glu412Ter) c.1336G>T (p.Glu446Ter) c.1369G>T (p.Glu457Ter) c.1276G>T (p.Glu426Ter) c.628G>T (p.Glu210Ter) c.937G>T (p.Glu313Ter) c.301G>T (p.Glu101Ter) | |
| 3 | g.10375477C= | CA1345182353 | ATP2B2 | c.1234G= (p.Glu412=) c.1336G= (p.Glu446=) c.1369G= (p.Glu457=) c.1276G= (p.Glu426=) c.628G= (p.Glu210=) c.937G= (p.Glu313=) c.301G= (p.Glu101=) | |
| 3 | g.10375477C>G | CA351784284 | ATP2B2 | c.1234G>C (p.Glu412Gln) c.1336G>C (p.Glu446Gln) c.1369G>C (p.Glu457Gln) c.1276G>C (p.Glu426Gln) c.628G>C (p.Glu210Gln) c.937G>C (p.Glu313Gln) c.301G>C (p.Glu101Gln) | COSMIC COSMIC |
| 3 | g.10375477C>T | CA16617794 | ATP2B2 | c.1234G>A (p.Glu412Lys) c.1336G>A (p.Glu446Lys) c.1369G>A (p.Glu457Lys) c.1276G>A (p.Glu426Lys) c.628G>A (p.Glu210Lys) c.937G>A (p.Glu313Lys) c.301G>A (p.Glu101Lys) | ClinVar dbSNP |
| 3 | g.10375478G>A | CA432441068 | ATP2B2 | c.1233C>T (p.Pro411=) c.1335C>T (p.Pro445=) c.1368C>T (p.Pro456=) c.1275C>T (p.Pro425=) c.627C>T (p.Pro209=) c.936C>T (p.Pro312=) c.300C>T (p.Pro100=) | ClinVar gnomAD v4 |
| 3 | g.10375478G>C | CA2253687 | ATP2B2 | c.1233C>G (p.Pro411=) c.1335C>G (p.Pro445=) c.1368C>G (p.Pro456=) c.1275C>G (p.Pro425=) c.627C>G (p.Pro209=) c.936C>G (p.Pro312=) c.300C>G (p.Pro100=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375478G= | CA1345182356 | ATP2B2 | c.1233C= (p.Pro411=) c.1335C= (p.Pro445=) c.1368C= (p.Pro456=) c.1275C= (p.Pro425=) c.627C= (p.Pro209=) c.936C= (p.Pro312=) c.300C= (p.Pro100=) | |
| 3 | g.10375478G>T | CA2253686 | ATP2B2 | c.1233C>A (p.Pro411=) c.1335C>A (p.Pro445=) c.1368C>A (p.Pro456=) c.1275C>A (p.Pro425=) c.627C>A (p.Pro209=) c.936C>A (p.Pro312=) c.300C>A (p.Pro100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375479G>A | CA351784288 | ATP2B2 | c.1232C>T (p.Pro411Leu) c.1334C>T (p.Pro445Leu) c.1367C>T (p.Pro456Leu) c.1274C>T (p.Pro425Leu) c.626C>T (p.Pro209Leu) c.935C>T (p.Pro312Leu) c.299C>T (p.Pro100Leu) | |
| 3 | g.10375479G>C | CA351784289 | ATP2B2 | c.1232C>G (p.Pro411Arg) c.1334C>G (p.Pro445Arg) c.1367C>G (p.Pro456Arg) c.1274C>G (p.Pro425Arg) c.626C>G (p.Pro209Arg) c.935C>G (p.Pro312Arg) c.299C>G (p.Pro100Arg) | |
| 3 | g.10375479G>T | CA351784291 | ATP2B2 | c.1232C>A (p.Pro411His) c.1334C>A (p.Pro445His) c.1367C>A (p.Pro456His) c.1274C>A (p.Pro425His) c.626C>A (p.Pro209His) c.935C>A (p.Pro312His) c.299C>A (p.Pro100His) | |
| 3 | g.10375480G>A | CA351784293 | ATP2B2 | c.1231C>T (p.Pro411Ser) c.1333C>T (p.Pro445Ser) c.1366C>T (p.Pro456Ser) c.1273C>T (p.Pro425Ser) c.625C>T (p.Pro209Ser) c.934C>T (p.Pro312Ser) c.298C>T (p.Pro100Ser) | |
| 3 | g.10375480G>C | CA351784295 | ATP2B2 | c.1231C>G (p.Pro411Ala) c.1333C>G (p.Pro445Ala) c.1366C>G (p.Pro456Ala) c.1273C>G (p.Pro425Ala) c.625C>G (p.Pro209Ala) c.934C>G (p.Pro312Ala) c.298C>G (p.Pro100Ala) | |
| 3 | g.10375480G>T | CA351784296 | ATP2B2 | c.1231C>A (p.Pro411Thr) c.1333C>A (p.Pro445Thr) c.1366C>A (p.Pro456Thr) c.1273C>A (p.Pro425Thr) c.625C>A (p.Pro209Thr) c.934C>A (p.Pro312Thr) c.298C>A (p.Pro100Thr) | |
| 3 | g.10375481C>A | CA432441077 | ATP2B2 | c.1230G>T (p.Val410=) c.1332G>T (p.Val444=) c.1365G>T (p.Val455=) c.1272G>T (p.Val424=) c.624G>T (p.Val208=) c.933G>T (p.Val311=) c.297G>T (p.Val99=) | |
| 3 | g.10375481C>G | CA432441079 | ATP2B2 | c.1230G>C (p.Val410=) c.1332G>C (p.Val444=) c.1365G>C (p.Val455=) c.1272G>C (p.Val424=) c.624G>C (p.Val208=) c.933G>C (p.Val311=) c.297G>C (p.Val99=) | |
| 3 | g.10375481C>T | CA432441081 | ATP2B2 | c.1230G>A (p.Val410=) c.1332G>A (p.Val444=) c.1365G>A (p.Val455=) c.1272G>A (p.Val424=) c.624G>A (p.Val208=) c.933G>A (p.Val311=) c.297G>A (p.Val99=) | |
| 3 | g.10375482A>C | CA351784298 | ATP2B2 | c.1229T>G (p.Val410Gly) c.1331T>G (p.Val444Gly) c.1364T>G (p.Val455Gly) c.1271T>G (p.Val424Gly) c.623T>G (p.Val208Gly) c.932T>G (p.Val311Gly) c.296T>G (p.Val99Gly) | |
| 3 | g.10375482A>G | CA351784300 | ATP2B2 | c.1229T>C (p.Val410Ala) c.1331T>C (p.Val444Ala) c.1364T>C (p.Val455Ala) c.1271T>C (p.Val424Ala) c.623T>C (p.Val208Ala) c.932T>C (p.Val311Ala) c.296T>C (p.Val99Ala) | |
| 3 | g.10375482A>T | CA351784302 | ATP2B2 | c.1229T>A (p.Val410Glu) c.1331T>A (p.Val444Glu) c.1364T>A (p.Val455Glu) c.1271T>A (p.Val424Glu) c.623T>A (p.Val208Glu) c.932T>A (p.Val311Glu) c.296T>A (p.Val99Glu) | |
| 3 | g.10375483C>A | CA351784307 | ATP2B2 | c.1228G>T (p.Val410Leu) c.1330G>T (p.Val444Leu) c.1363G>T (p.Val455Leu) c.1270G>T (p.Val424Leu) c.622G>T (p.Val208Leu) c.931G>T (p.Val311Leu) c.295G>T (p.Val99Leu) | |
| 3 | g.10375483C= | CA1345182362 | ATP2B2 | c.1228G= (p.Val410=) c.1330G= (p.Val444=) c.1363G= (p.Val455=) c.1270G= (p.Val424=) c.622G= (p.Val208=) c.931G= (p.Val311=) c.295G= (p.Val99=) | |
| 3 | g.10375483C>G | CA351784303 | ATP2B2 | c.1228G>C (p.Val410Leu) c.1330G>C (p.Val444Leu) c.1363G>C (p.Val455Leu) c.1270G>C (p.Val424Leu) c.622G>C (p.Val208Leu) c.931G>C (p.Val311Leu) c.295G>C (p.Val99Leu) | |
| 3 | g.10375483C>T | CA351784305 | ATP2B2 | c.1228G>A (p.Val410Met) c.1330G>A (p.Val444Met) c.1363G>A (p.Val455Met) c.1270G>A (p.Val424Met) c.622G>A (p.Val208Met) c.931G>A (p.Val311Met) c.295G>A (p.Val99Met) | dbSNP gnomAD v4 |
| 3 | g.10375484G>A | CA2253688 | ATP2B2 | c.1227C>T (p.Ala409=) c.1329C>T (p.Ala443=) c.1362C>T (p.Ala454=) c.1269C>T (p.Ala423=) c.621C>T (p.Ala207=) c.930C>T (p.Ala310=) c.294C>T (p.Ala98=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375484G>C | CA432441089 | ATP2B2 | c.1227C>G (p.Ala409=) c.1329C>G (p.Ala443=) c.1362C>G (p.Ala454=) c.1269C>G (p.Ala423=) c.621C>G (p.Ala207=) c.930C>G (p.Ala310=) c.294C>G (p.Ala98=) | gnomAD v4 |
| 3 | g.10375484G= | CA1345182364 | ATP2B2 | c.1227C= (p.Ala409=) c.1329C= (p.Ala443=) c.1362C= (p.Ala454=) c.1269C= (p.Ala423=) c.621C= (p.Ala207=) c.930C= (p.Ala310=) c.294C= (p.Ala98=) | |
| 3 | g.10375484G>T | CA432441091 | ATP2B2 | c.1227C>A (p.Ala409=) c.1329C>A (p.Ala443=) c.1362C>A (p.Ala454=) c.1269C>A (p.Ala423=) c.621C>A (p.Ala207=) c.930C>A (p.Ala310=) c.294C>A (p.Ala98=) | |
| 3 | g.10375485G>A | CA351784309 | ATP2B2 | c.1226C>T (p.Ala409Val) c.1328C>T (p.Ala443Val) c.1361C>T (p.Ala454Val) c.1268C>T (p.Ala423Val) c.620C>T (p.Ala207Val) c.929C>T (p.Ala310Val) c.293C>T (p.Ala98Val) | |
| 3 | g.10375485G>C | CA351784310 | ATP2B2 | c.1226C>G (p.Ala409Gly) c.1328C>G (p.Ala443Gly) c.1361C>G (p.Ala454Gly) c.1268C>G (p.Ala423Gly) c.620C>G (p.Ala207Gly) c.929C>G (p.Ala310Gly) c.293C>G (p.Ala98Gly) | |
| 3 | g.10375485G>T | CA351784312 | ATP2B2 | c.1226C>A (p.Ala409Asp) c.1328C>A (p.Ala443Asp) c.1361C>A (p.Ala454Asp) c.1268C>A (p.Ala423Asp) c.620C>A (p.Ala207Asp) c.929C>A (p.Ala310Asp) c.293C>A (p.Ala98Asp) | |
| 3 | g.10375486C>A | CA351784314 | ATP2B2 | c.1225G>T (p.Ala409Ser) c.1327G>T (p.Ala443Ser) c.1360G>T (p.Ala454Ser) c.1267G>T (p.Ala423Ser) c.619G>T (p.Ala207Ser) c.928G>T (p.Ala310Ser) c.292G>T (p.Ala98Ser) | |
| 3 | g.10375486C>G | CA351784316 | ATP2B2 | c.1225G>C (p.Ala409Pro) c.1327G>C (p.Ala443Pro) c.1360G>C (p.Ala454Pro) c.1267G>C (p.Ala423Pro) c.619G>C (p.Ala207Pro) c.928G>C (p.Ala310Pro) c.292G>C (p.Ala98Pro) | |
| 3 | g.10375486C>T | CA351784317 | ATP2B2 | c.1225G>A (p.Ala409Thr) c.1327G>A (p.Ala443Thr) c.1360G>A (p.Ala454Thr) c.1267G>A (p.Ala423Thr) c.619G>A (p.Ala207Thr) c.928G>A (p.Ala310Thr) c.292G>A (p.Ala98Thr) | gnomAD v4 |
| 3 | g.10375487G>A | CA70116156 | ATP2B2 | c.1224C>T (p.Val408=) c.1326C>T (p.Val442=) c.1359C>T (p.Val453=) c.1266C>T (p.Val422=) c.618C>T (p.Val206=) c.927C>T (p.Val309=) c.291C>T (p.Val97=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10375487G>C | CA432441097 | ATP2B2 | c.1224C>G (p.Val408=) c.1326C>G (p.Val442=) c.1359C>G (p.Val453=) c.1266C>G (p.Val422=) c.618C>G (p.Val206=) c.927C>G (p.Val309=) c.291C>G (p.Val97=) | |
| 3 | g.10375487G= | CA1345182367 | ATP2B2 | c.1224C= (p.Val408=) c.1326C= (p.Val442=) c.1359C= (p.Val453=) c.1266C= (p.Val422=) c.618C= (p.Val206=) c.927C= (p.Val309=) c.291C= (p.Val97=) | |
| 3 | g.10375487G>T | CA432441099 | ATP2B2 | c.1224C>A (p.Val408=) c.1326C>A (p.Val442=) c.1359C>A (p.Val453=) c.1266C>A (p.Val422=) c.618C>A (p.Val206=) c.927C>A (p.Val309=) c.291C>A (p.Val97=) | gnomAD v4 COSMIC COSMIC |
| 3 | g.10375488A>C | CA351784319 | ATP2B2 | c.1223T>G (p.Val408Gly) c.1325T>G (p.Val442Gly) c.1358T>G (p.Val453Gly) c.1265T>G (p.Val422Gly) c.617T>G (p.Val206Gly) c.926T>G (p.Val309Gly) c.290T>G (p.Val97Gly) | |
| 3 | g.10375488A>G | CA351784321 | ATP2B2 | c.1223T>C (p.Val408Ala) c.1325T>C (p.Val442Ala) c.1358T>C (p.Val453Ala) c.1265T>C (p.Val422Ala) c.617T>C (p.Val206Ala) c.926T>C (p.Val309Ala) c.290T>C (p.Val97Ala) | |
| 3 | g.10375488A>T | CA351784322 | ATP2B2 | c.1223T>A (p.Val408Asp) c.1325T>A (p.Val442Asp) c.1358T>A (p.Val453Asp) c.1265T>A (p.Val422Asp) c.617T>A (p.Val206Asp) c.926T>A (p.Val309Asp) c.290T>A (p.Val97Asp) | |
| 3 | g.10375489C>A | CA351784324 | ATP2B2 | c.1222G>T (p.Val408Phe) c.1324G>T (p.Val442Phe) c.1357G>T (p.Val453Phe) c.1264G>T (p.Val422Phe) c.616G>T (p.Val206Phe) c.925G>T (p.Val309Phe) c.289G>T (p.Val97Phe) | |
| 3 | g.10375489C>G | CA351784326 | ATP2B2 | c.1222G>C (p.Val408Leu) c.1324G>C (p.Val442Leu) c.1357G>C (p.Val453Leu) c.1264G>C (p.Val422Leu) c.616G>C (p.Val206Leu) c.925G>C (p.Val309Leu) c.289G>C (p.Val97Leu) | |
| 3 | g.10375489C>T | CA351784323 | ATP2B2 | c.1222G>A (p.Val408Ile) c.1324G>A (p.Val442Ile) c.1357G>A (p.Val453Ile) c.1264G>A (p.Val422Ile) c.616G>A (p.Val206Ile) c.925G>A (p.Val309Ile) c.289G>A (p.Val97Ile) | |
| 3 | g.10375490C>A | CA432441106 | ATP2B2 | c.1221G>T (p.Val407=) c.1323G>T (p.Val441=) c.1356G>T (p.Val452=) c.1263G>T (p.Val421=) c.615G>T (p.Val205=) c.924G>T (p.Val308=) c.288G>T (p.Val96=) | |
| 3 | g.10375490C= | CA1345182372 | ATP2B2 | c.1221G= (p.Val407=) c.1323G= (p.Val441=) c.1356G= (p.Val452=) c.1263G= (p.Val421=) c.615G= (p.Val205=) c.924G= (p.Val308=) c.288G= (p.Val96=) | |
| 3 | g.10375490C>G | CA432441107 | ATP2B2 | c.1221G>C (p.Val407=) c.1323G>C (p.Val441=) c.1356G>C (p.Val452=) c.1263G>C (p.Val421=) c.615G>C (p.Val205=) c.924G>C (p.Val308=) c.288G>C (p.Val96=) | |
| 3 | g.10375490C>T | CA432441109 | ATP2B2 | c.1221G>A (p.Val407=) c.1323G>A (p.Val441=) c.1356G>A (p.Val452=) c.1263G>A (p.Val421=) c.615G>A (p.Val205=) c.924G>A (p.Val308=) c.288G>A (p.Val96=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10375491A>C | CA351784328 | ATP2B2 | c.1220T>G (p.Val407Gly) c.1322T>G (p.Val441Gly) c.1355T>G (p.Val452Gly) c.1262T>G (p.Val421Gly) c.614T>G (p.Val205Gly) c.923T>G (p.Val308Gly) c.287T>G (p.Val96Gly) | |
| 3 | g.10375491A>G | CA351784330 | ATP2B2 | c.1220T>C (p.Val407Ala) c.1322T>C (p.Val441Ala) c.1355T>C (p.Val452Ala) c.1262T>C (p.Val421Ala) c.614T>C (p.Val205Ala) c.923T>C (p.Val308Ala) c.287T>C (p.Val96Ala) | |
| 3 | g.10375491A>T | CA351784331 | ATP2B2 | c.1220T>A (p.Val407Glu) c.1322T>A (p.Val441Glu) c.1355T>A (p.Val452Glu) c.1262T>A (p.Val421Glu) c.614T>A (p.Val205Glu) c.923T>A (p.Val308Glu) c.287T>A (p.Val96Glu) | |
| 3 | g.10375492C>A | CA351784332 | ATP2B2 | c.1219G>T (p.Val407Leu) c.1321G>T (p.Val441Leu) c.1354G>T (p.Val452Leu) c.1261G>T (p.Val421Leu) c.613G>T (p.Val205Leu) c.922G>T (p.Val308Leu) c.286G>T (p.Val96Leu) | |
| 3 | g.10375492C>G | CA351784333 | ATP2B2 | c.1219G>C (p.Val407Leu) c.1321G>C (p.Val441Leu) c.1354G>C (p.Val452Leu) c.1261G>C (p.Val421Leu) c.613G>C (p.Val205Leu) c.922G>C (p.Val308Leu) c.286G>C (p.Val96Leu) | |
| 3 | g.10375492C>T | CA351784335 | ATP2B2 | c.1219G>A (p.Val407Met) c.1321G>A (p.Val441Met) c.1354G>A (p.Val452Met) c.1261G>A (p.Val421Met) c.613G>A (p.Val205Met) c.922G>A (p.Val308Met) c.286G>A (p.Val96Met) | |
| 3 | g.10375493C>A | CA432441118 | ATP2B2 | c.1218G>T (p.Leu406=) c.1320G>T (p.Leu440=) c.1353G>T (p.Leu451=) c.1260G>T (p.Leu420=) c.612G>T (p.Leu204=) c.921G>T (p.Leu307=) c.285G>T (p.Leu95=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375493C= | CA1345182376 | ATP2B2 | c.1218G= (p.Leu406=) c.1320G= (p.Leu440=) c.1353G= (p.Leu451=) c.1260G= (p.Leu420=) c.612G= (p.Leu204=) c.921G= (p.Leu307=) c.285G= (p.Leu95=) | |
| 3 | g.10375493C>G | CA432441116 | ATP2B2 | c.1218G>C (p.Leu406=) c.1320G>C (p.Leu440=) c.1353G>C (p.Leu451=) c.1260G>C (p.Leu420=) c.612G>C (p.Leu204=) c.921G>C (p.Leu307=) c.285G>C (p.Leu95=) | |
| 3 | g.10375493C>T | CA2253689 | ATP2B2 | c.1218G>A (p.Leu406=) c.1320G>A (p.Leu440=) c.1353G>A (p.Leu451=) c.1260G>A (p.Leu420=) c.612G>A (p.Leu204=) c.921G>A (p.Leu307=) c.285G>A (p.Leu95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375494A>C | CA351784338 | ATP2B2 | c.1217T>G (p.Leu406Arg) c.1319T>G (p.Leu440Arg) c.1352T>G (p.Leu451Arg) c.1259T>G (p.Leu420Arg) c.611T>G (p.Leu204Arg) c.920T>G (p.Leu307Arg) c.284T>G (p.Leu95Arg) | |
| 3 | g.10375494A>G | CA351784339 | ATP2B2 | c.1217T>C (p.Leu406Pro) c.1319T>C (p.Leu440Pro) c.1352T>C (p.Leu451Pro) c.1259T>C (p.Leu420Pro) c.611T>C (p.Leu204Pro) c.920T>C (p.Leu307Pro) c.284T>C (p.Leu95Pro) | |
| 3 | g.10375494A>T | CA351784340 | ATP2B2 | c.1217T>A (p.Leu406Gln) c.1319T>A (p.Leu440Gln) c.1352T>A (p.Leu451Gln) c.1259T>A (p.Leu420Gln) c.611T>A (p.Leu204Gln) c.920T>A (p.Leu307Gln) c.284T>A (p.Leu95Gln) | |
| 3 | g.10375495G>A | CA432441123 | ATP2B2 | c.1216C>T (p.Leu406=) c.1318C>T (p.Leu440=) c.1351C>T (p.Leu451=) c.1258C>T (p.Leu420=) c.610C>T (p.Leu204=) c.919C>T (p.Leu307=) c.283C>T (p.Leu95=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375495G>C | CA351784342 | ATP2B2 | c.1216C>G (p.Leu406Val) c.1318C>G (p.Leu440Val) c.1351C>G (p.Leu451Val) c.1258C>G (p.Leu420Val) c.610C>G (p.Leu204Val) c.919C>G (p.Leu307Val) c.283C>G (p.Leu95Val) | |
| 3 | g.10375495G= | CA1345182378 | ATP2B2 | c.1216C= (p.Leu406=) c.1318C= (p.Leu440=) c.1351C= (p.Leu451=) c.1258C= (p.Leu420=) c.610C= (p.Leu204=) c.919C= (p.Leu307=) c.283C= (p.Leu95=) | |
| 3 | g.10375495G>T | CA351784344 | ATP2B2 | c.1216C>A (p.Leu406Met) c.1318C>A (p.Leu440Met) c.1351C>A (p.Leu451Met) c.1258C>A (p.Leu420Met) c.610C>A (p.Leu204Met) c.919C>A (p.Leu307Met) c.283C>A (p.Leu95Met) | |
| 3 | g.10375496C>A | CA432441127 | ATP2B2 | c.1215G>T (p.Val405=) c.1317G>T (p.Val439=) c.1350G>T (p.Val450=) c.1257G>T (p.Val419=) c.609G>T (p.Val203=) c.918G>T (p.Val306=) c.282G>T (p.Val94=) | |
| 3 | g.10375496C>G | CA432441130 | ATP2B2 | c.1215G>C (p.Val405=) c.1317G>C (p.Val439=) c.1350G>C (p.Val450=) c.1257G>C (p.Val419=) c.609G>C (p.Val203=) c.918G>C (p.Val306=) c.282G>C (p.Val94=) | |
| 3 | g.10375496C>T | CA432441129 | ATP2B2 | c.1215G>A (p.Val405=) c.1317G>A (p.Val439=) c.1350G>A (p.Val450=) c.1257G>A (p.Val419=) c.609G>A (p.Val203=) c.918G>A (p.Val306=) c.282G>A (p.Val94=) | |
| 3 | g.10375497A>C | CA351784347 | ATP2B2 | c.1214T>G (p.Val405Gly) c.1316T>G (p.Val439Gly) c.1349T>G (p.Val450Gly) c.1256T>G (p.Val419Gly) c.608T>G (p.Val203Gly) c.917T>G (p.Val306Gly) c.281T>G (p.Val94Gly) | |
| 3 | g.10375497A>G | CA351784349 | ATP2B2 | c.1214T>C (p.Val405Ala) c.1316T>C (p.Val439Ala) c.1349T>C (p.Val450Ala) c.1256T>C (p.Val419Ala) c.608T>C (p.Val203Ala) c.917T>C (p.Val306Ala) c.281T>C (p.Val94Ala) | |
| 3 | g.10375497A>T | CA351784346 | ATP2B2 | c.1214T>A (p.Val405Glu) c.1316T>A (p.Val439Glu) c.1349T>A (p.Val450Glu) c.1256T>A (p.Val419Glu) c.608T>A (p.Val203Glu) c.917T>A (p.Val306Glu) c.281T>A (p.Val94Glu) | |
| 3 | g.10375498C>A | CA351784350 | ATP2B2 | c.1213G>T (p.Val405Leu) c.1315G>T (p.Val439Leu) c.1348G>T (p.Val450Leu) c.1255G>T (p.Val419Leu) c.607G>T (p.Val203Leu) c.916G>T (p.Val306Leu) c.280G>T (p.Val94Leu) | |
| 3 | g.10375498C>G | CA351784352 | ATP2B2 | c.1213G>C (p.Val405Leu) c.1315G>C (p.Val439Leu) c.1348G>C (p.Val450Leu) c.1255G>C (p.Val419Leu) c.607G>C (p.Val203Leu) c.916G>C (p.Val306Leu) c.280G>C (p.Val94Leu) | ClinVar dbSNP |
| 3 | g.10375498C>T | CA351784353 | ATP2B2 | c.1213G>A (p.Val405Met) c.1315G>A (p.Val439Met) c.1348G>A (p.Val450Met) c.1255G>A (p.Val419Met) c.607G>A (p.Val203Met) c.916G>A (p.Val306Met) c.280G>A (p.Val94Met) | |
| 3 | g.10375499C>A | CA432441135 | ATP2B2 | c.1212G>T (p.Thr404=) c.1314G>T (p.Thr438=) c.1347G>T (p.Thr449=) c.1254G>T (p.Thr418=) c.606G>T (p.Thr202=) c.915G>T (p.Thr305=) c.279G>T (p.Thr93=) | COSMIC COSMIC |
| 3 | g.10375499C= | CA1345182380 | ATP2B2 | c.1212G= (p.Thr404=) c.1314G= (p.Thr438=) c.1347G= (p.Thr449=) c.1254G= (p.Thr418=) c.606G= (p.Thr202=) c.915G= (p.Thr305=) c.279G= (p.Thr93=) | |
| 3 | g.10375499C>G | CA432441136 | ATP2B2 | c.1212G>C (p.Thr404=) c.1314G>C (p.Thr438=) c.1347G>C (p.Thr449=) c.1254G>C (p.Thr418=) c.606G>C (p.Thr202=) c.915G>C (p.Thr305=) c.279G>C (p.Thr93=) | |
| 3 | g.10375499C>T | CA2253690 | ATP2B2 | c.1212G>A (p.Thr404=) c.1314G>A (p.Thr438=) c.1347G>A (p.Thr449=) c.1254G>A (p.Thr418=) c.606G>A (p.Thr202=) c.915G>A (p.Thr305=) c.279G>A (p.Thr93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375500G>A | CA351784358 | ATP2B2 | c.1211C>T (p.Thr404Met) c.1313C>T (p.Thr438Met) c.1346C>T (p.Thr449Met) c.1253C>T (p.Thr418Met) c.605C>T (p.Thr202Met) c.914C>T (p.Thr305Met) c.278C>T (p.Thr93Met) | gnomAD v4 |
| 3 | g.10375500G>C | CA351784357 | ATP2B2 | c.1211C>G (p.Thr404Arg) c.1313C>G (p.Thr438Arg) c.1346C>G (p.Thr449Arg) c.1253C>G (p.Thr418Arg) c.605C>G (p.Thr202Arg) c.914C>G (p.Thr305Arg) c.278C>G (p.Thr93Arg) | |
| 3 | g.10375500G>T | CA351784355 | ATP2B2 | c.1211C>A (p.Thr404Lys) c.1313C>A (p.Thr438Lys) c.1346C>A (p.Thr449Lys) c.1253C>A (p.Thr418Lys) c.605C>A (p.Thr202Lys) c.914C>A (p.Thr305Lys) c.278C>A (p.Thr93Lys) | |
| 3 | g.10375501T>A | CA351784359 | ATP2B2 | c.1210A>T (p.Thr404Ser) c.1312A>T (p.Thr438Ser) c.1345A>T (p.Thr449Ser) c.1252A>T (p.Thr418Ser) c.604A>T (p.Thr202Ser) c.913A>T (p.Thr305Ser) c.277A>T (p.Thr93Ser) | |
| 3 | g.10375501T>C | CA351784360 | ATP2B2 | c.1210A>G (p.Thr404Ala) c.1312A>G (p.Thr438Ala) c.1345A>G (p.Thr449Ala) c.1252A>G (p.Thr418Ala) c.604A>G (p.Thr202Ala) c.913A>G (p.Thr305Ala) c.277A>G (p.Thr93Ala) | |
| 3 | g.10375501T>G | CA351784361 | ATP2B2 | c.1210A>C (p.Thr404Pro) c.1312A>C (p.Thr438Pro) c.1345A>C (p.Thr449Pro) c.1252A>C (p.Thr418Pro) c.604A>C (p.Thr202Pro) c.913A>C (p.Thr305Pro) c.277A>C (p.Thr93Pro) | |
| 3 | g.10375502C>A | CA432441144 | ATP2B2 | c.1209G>T (p.Val403=) c.1311G>T (p.Val437=) c.1344G>T (p.Val448=) c.1251G>T (p.Val417=) c.603G>T (p.Val201=) c.912G>T (p.Val304=) c.276G>T (p.Val92=) | gnomAD v4 |
| 3 | g.10375502C>G | CA432441146 | ATP2B2 | c.1209G>C (p.Val403=) c.1311G>C (p.Val437=) c.1344G>C (p.Val448=) c.1251G>C (p.Val417=) c.603G>C (p.Val201=) c.912G>C (p.Val304=) c.276G>C (p.Val92=) | |
| 3 | g.10375502C>T | CA432441148 | ATP2B2 | c.1209G>A (p.Val403=) c.1311G>A (p.Val437=) c.1344G>A (p.Val448=) c.1251G>A (p.Val417=) c.603G>A (p.Val201=) c.912G>A (p.Val304=) c.276G>A (p.Val92=) | |
| 3 | g.10375503A>C | CA351784362 | ATP2B2 | c.1208T>G (p.Val403Gly) c.1310T>G (p.Val437Gly) c.1343T>G (p.Val448Gly) c.1250T>G (p.Val417Gly) c.602T>G (p.Val201Gly) c.911T>G (p.Val304Gly) c.275T>G (p.Val92Gly) | |
| 3 | g.10375503A>G | CA351784363 | ATP2B2 | c.1208T>C (p.Val403Ala) c.1310T>C (p.Val437Ala) c.1343T>C (p.Val448Ala) c.1250T>C (p.Val417Ala) c.602T>C (p.Val201Ala) c.911T>C (p.Val304Ala) c.275T>C (p.Val92Ala) | |
| 3 | g.10375503A>T | CA351784364 | ATP2B2 | c.1208T>A (p.Val403Glu) c.1310T>A (p.Val437Glu) c.1343T>A (p.Val448Glu) c.1250T>A (p.Val417Glu) c.602T>A (p.Val201Glu) c.911T>A (p.Val304Glu) c.275T>A (p.Val92Glu) | |
| 3 | g.10375504C>A | CA351784366 | ATP2B2 | c.1207G>T (p.Val403Leu) c.1309G>T (p.Val437Leu) c.1342G>T (p.Val448Leu) c.1249G>T (p.Val417Leu) c.601G>T (p.Val201Leu) c.910G>T (p.Val304Leu) c.274G>T (p.Val92Leu) | gnomAD v4 |
| 3 | g.10375504C= | CA1345182382 | ATP2B2 | c.1207G= (p.Val403=) c.1309G= (p.Val437=) c.1342G= (p.Val448=) c.1249G= (p.Val417=) c.601G= (p.Val201=) c.910G= (p.Val304=) c.274G= (p.Val92=) | |
| 3 | g.10375504C>G | CA351784369 | ATP2B2 | c.1207G>C (p.Val403Leu) c.1309G>C (p.Val437Leu) c.1342G>C (p.Val448Leu) c.1249G>C (p.Val417Leu) c.601G>C (p.Val201Leu) c.910G>C (p.Val304Leu) c.274G>C (p.Val92Leu) | |
| 3 | g.10375504C>T | CA351784367 | ATP2B2 | c.1207G>A (p.Val403Met) c.1309G>A (p.Val437Met) c.1342G>A (p.Val448Met) c.1249G>A (p.Val417Met) c.601G>A (p.Val201Met) c.910G>A (p.Val304Met) c.274G>A (p.Val92Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.10375505G>A | CA2253691 | ATP2B2 | c.1206C>T (p.Gly402=) c.1308C>T (p.Gly436=) c.1341C>T (p.Gly447=) c.1248C>T (p.Gly416=) c.600C>T (p.Gly200=) c.909C>T (p.Gly303=) c.273C>T (p.Gly91=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.10375505G>C | CA432441155 | ATP2B2 | c.1206C>G (p.Gly402=) c.1308C>G (p.Gly436=) c.1341C>G (p.Gly447=) c.1248C>G (p.Gly416=) c.600C>G (p.Gly200=) c.909C>G (p.Gly303=) c.273C>G (p.Gly91=) | |
| 3 | g.10375505G= | CA1345182388 | ATP2B2 | c.1206C= (p.Gly402=) c.1308C= (p.Gly436=) c.1341C= (p.Gly447=) c.1248C= (p.Gly416=) c.600C= (p.Gly200=) c.909C= (p.Gly303=) c.273C= (p.Gly91=) | |
| 3 | g.10375505G>T | CA432441154 | ATP2B2 | c.1206C>A (p.Gly402=) c.1308C>A (p.Gly436=) c.1341C>A (p.Gly447=) c.1248C>A (p.Gly416=) c.600C>A (p.Gly200=) c.909C>A (p.Gly303=) c.273C>A (p.Gly91=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10375506C>A | CA351784373 | ATP2B2 | c.1205G>T (p.Gly402Val) c.1307G>T (p.Gly436Val) c.1340G>T (p.Gly447Val) c.1247G>T (p.Gly416Val) c.599G>T (p.Gly200Val) c.908G>T (p.Gly303Val) c.272G>T (p.Gly91Val) | |
| 3 | g.10375506C>G | CA351784371 | ATP2B2 | c.1205G>C (p.Gly402Ala) c.1307G>C (p.Gly436Ala) c.1340G>C (p.Gly447Ala) c.1247G>C (p.Gly416Ala) c.599G>C (p.Gly200Ala) c.908G>C (p.Gly303Ala) c.272G>C (p.Gly91Ala) | |
| 3 | g.10375506C>T | CA351784375 | ATP2B2 | c.1205G>A (p.Gly402Asp) c.1307G>A (p.Gly436Asp) c.1340G>A (p.Gly447Asp) c.1247G>A (p.Gly416Asp) c.599G>A (p.Gly200Asp) c.908G>A (p.Gly303Asp) c.272G>A (p.Gly91Asp) | |
| 3 | g.10375507C>A | CA351784377 | ATP2B2 | c.1204G>T (p.Gly402Cys) c.1306G>T (p.Gly436Cys) c.1339G>T (p.Gly447Cys) c.1246G>T (p.Gly416Cys) c.598G>T (p.Gly200Cys) c.907G>T (p.Gly303Cys) c.271G>T (p.Gly91Cys) | |
| 3 | g.10375507C>G | CA351784380 | ATP2B2 | c.1204G>C (p.Gly402Arg) c.1306G>C (p.Gly436Arg) c.1339G>C (p.Gly447Arg) c.1246G>C (p.Gly416Arg) c.598G>C (p.Gly200Arg) c.907G>C (p.Gly303Arg) c.271G>C (p.Gly91Arg) | |
| 3 | g.10375507C>T | CA351784378 | ATP2B2 | c.1204G>A (p.Gly402Ser) c.1306G>A (p.Gly436Ser) c.1339G>A (p.Gly447Ser) c.1246G>A (p.Gly416Ser) c.598G>A (p.Gly200Ser) c.907G>A (p.Gly303Ser) c.271G>A (p.Gly91Ser) | |
| 3 | g.10375508A>C | CA351784382 | ATP2B2 | c.1203T>G (p.Ile401Met) c.1305T>G (p.Ile435Met) c.1338T>G (p.Ile446Met) c.1245T>G (p.Ile415Met) c.597T>G (p.Ile199Met) c.906T>G (p.Ile302Met) c.270T>G (p.Ile90Met) | |
| 3 | g.10375508A>G | CA432441164 | ATP2B2 | c.1203T>C (p.Ile401=) c.1305T>C (p.Ile435=) c.1338T>C (p.Ile446=) c.1245T>C (p.Ile415=) c.597T>C (p.Ile199=) c.906T>C (p.Ile302=) c.270T>C (p.Ile90=) | |
| 3 | g.10375508A>T | CA432441166 | ATP2B2 | c.1203T>A (p.Ile401=) c.1305T>A (p.Ile435=) c.1338T>A (p.Ile446=) c.1245T>A (p.Ile415=) c.597T>A (p.Ile199=) c.906T>A (p.Ile302=) c.270T>A (p.Ile90=) | |
| 3 | g.10375509A= | CA1345182390 | ATP2B2 | c.1202T= (p.Ile401=) c.1304T= (p.Ile435=) c.1337T= (p.Ile446=) c.1244T= (p.Ile415=) c.596T= (p.Ile199=) c.905T= (p.Ile302=) c.269T= (p.Ile90=) | |
| 3 | g.10375509A>C | CA351784384 | ATP2B2 | c.1202T>G (p.Ile401Ser) c.1304T>G (p.Ile435Ser) c.1337T>G (p.Ile446Ser) c.1244T>G (p.Ile415Ser) c.596T>G (p.Ile199Ser) c.905T>G (p.Ile302Ser) c.269T>G (p.Ile90Ser) | |
| 3 | g.10375509A>G | CA2253692 | ATP2B2 | c.1202T>C (p.Ile401Thr) c.1304T>C (p.Ile435Thr) c.1337T>C (p.Ile446Thr) c.1244T>C (p.Ile415Thr) c.596T>C (p.Ile199Thr) c.905T>C (p.Ile302Thr) c.269T>C (p.Ile90Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375509A>T | CA351784386 | ATP2B2 | c.1202T>A (p.Ile401Asn) c.1304T>A (p.Ile435Asn) c.1337T>A (p.Ile446Asn) c.1244T>A (p.Ile415Asn) c.596T>A (p.Ile199Asn) c.905T>A (p.Ile302Asn) c.269T>A (p.Ile90Asn) | |
| 3 | g.10375510T>A | CA351784388 | ATP2B2 | c.1201A>T (p.Ile401Phe) c.1303A>T (p.Ile435Phe) c.1336A>T (p.Ile446Phe) c.1243A>T (p.Ile415Phe) c.595A>T (p.Ile199Phe) c.904A>T (p.Ile302Phe) c.268A>T (p.Ile90Phe) | |
| 3 | g.10375510T>C | CA2253693 | ATP2B2 | c.1201A>G (p.Ile401Val) c.1303A>G (p.Ile435Val) c.1336A>G (p.Ile446Val) c.1243A>G (p.Ile415Val) c.595A>G (p.Ile199Val) c.904A>G (p.Ile302Val) c.268A>G (p.Ile90Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375510T>G | CA351784389 | ATP2B2 | c.1201A>C (p.Ile401Leu) c.1303A>C (p.Ile435Leu) c.1336A>C (p.Ile446Leu) c.1243A>C (p.Ile415Leu) c.595A>C (p.Ile199Leu) c.904A>C (p.Ile302Leu) c.268A>C (p.Ile90Leu) | |
| 3 | g.10375510T= | CA1345182393 | ATP2B2 | c.1201A= (p.Ile401=) c.1303A= (p.Ile435=) c.1336A= (p.Ile446=) c.1243A= (p.Ile415=) c.595A= (p.Ile199=) c.904A= (p.Ile302=) c.268A= (p.Ile90=) | |
| 3 | g.10375511G>A | CA2253694 | ATP2B2 | c.1200C>T (p.Ile400=) c.1302C>T (p.Ile434=) c.1335C>T (p.Ile445=) c.1242C>T (p.Ile414=) c.594C>T (p.Ile198=) c.903C>T (p.Ile301=) c.267C>T (p.Ile89=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375511G>C | CA351784390 | ATP2B2 | c.1200C>G (p.Ile400Met) c.1302C>G (p.Ile434Met) c.1335C>G (p.Ile445Met) c.1242C>G (p.Ile414Met) c.594C>G (p.Ile198Met) c.903C>G (p.Ile301Met) c.267C>G (p.Ile89Met) | |
| 3 | g.10375511G= | CA1345182397 | ATP2B2 | c.1200C= (p.Ile400=) c.1302C= (p.Ile434=) c.1335C= (p.Ile445=) c.1242C= (p.Ile414=) c.594C= (p.Ile198=) c.903C= (p.Ile301=) c.267C= (p.Ile89=) | |
| 3 | g.10375511G>T | CA432441167 | ATP2B2 | c.1200C>A (p.Ile400=) c.1302C>A (p.Ile434=) c.1335C>A (p.Ile445=) c.1242C>A (p.Ile414=) c.594C>A (p.Ile198=) c.903C>A (p.Ile301=) c.267C>A (p.Ile89=) | |
| 3 | g.10375512A>C | CA351784392 | ATP2B2 | c.1199T>G (p.Ile400Ser) c.1301T>G (p.Ile434Ser) c.1334T>G (p.Ile445Ser) c.1241T>G (p.Ile414Ser) c.593T>G (p.Ile198Ser) c.902T>G (p.Ile301Ser) c.266T>G (p.Ile89Ser) | |
| 3 | g.10375512A>G | CA351784394 | ATP2B2 | c.1199T>C (p.Ile400Thr) c.1301T>C (p.Ile434Thr) c.1334T>C (p.Ile445Thr) c.1241T>C (p.Ile414Thr) c.593T>C (p.Ile198Thr) c.902T>C (p.Ile301Thr) c.266T>C (p.Ile89Thr) | |
| 3 | g.10375512A>T | CA351784395 | ATP2B2 | c.1199T>A (p.Ile400Asn) c.1301T>A (p.Ile434Asn) c.1334T>A (p.Ile445Asn) c.1241T>A (p.Ile414Asn) c.593T>A (p.Ile198Asn) c.902T>A (p.Ile301Asn) c.266T>A (p.Ile89Asn) | |
| 3 | g.10375513T>A | CA351784401 | ATP2B2 | c.1198A>T (p.Ile400Phe) c.1300A>T (p.Ile434Phe) c.1333A>T (p.Ile445Phe) c.1240A>T (p.Ile414Phe) c.592A>T (p.Ile198Phe) c.901A>T (p.Ile301Phe) c.265A>T (p.Ile89Phe) | |
| 3 | g.10375513T>C | CA351784397 | ATP2B2 | c.1198A>G (p.Ile400Val) c.1300A>G (p.Ile434Val) c.1333A>G (p.Ile445Val) c.1240A>G (p.Ile414Val) c.592A>G (p.Ile198Val) c.901A>G (p.Ile301Val) c.265A>G (p.Ile89Val) | gnomAD v4 |
| 3 | g.10375513T>G | CA351784399 | ATP2B2 | c.1198A>C (p.Ile400Leu) c.1300A>C (p.Ile434Leu) c.1333A>C (p.Ile445Leu) c.1240A>C (p.Ile414Leu) c.592A>C (p.Ile198Leu) c.901A>C (p.Ile301Leu) c.265A>C (p.Ile89Leu) | |
| 3 | g.10375513_10375516delinsTGAA | CA1345182399 | ATP2B2 | c.1195_1198delinsTTCA (p.Phe399=) c.1297_1300delinsTTCA (p.Phe433=) c.1330_1333delinsTTCA (p.Phe444=) c.1237_1240delinsTTCA (p.Phe413=) c.589_592delinsTTCA (p.Phe197=) c.898_901delinsTTCA (p.Phe300=) c.262_265delinsTTCA (p.Phe88=) | |
| 3 | g.10375514G>A | CA432441173 | ATP2B2 | c.1197C>T (p.Phe399=) c.1299C>T (p.Phe433=) c.1332C>T (p.Phe444=) c.1239C>T (p.Phe413=) c.591C>T (p.Phe197=) c.900C>T (p.Phe300=) c.264C>T (p.Phe88=) | |
| 3 | g.10375514G>C | CA351784402 | ATP2B2 | c.1197C>G (p.Phe399Leu) c.1299C>G (p.Phe433Leu) c.1332C>G (p.Phe444Leu) c.1239C>G (p.Phe413Leu) c.591C>G (p.Phe197Leu) c.900C>G (p.Phe300Leu) c.264C>G (p.Phe88Leu) | |
| 3 | g.10375514G>T | CA351784403 | ATP2B2 | c.1197C>A (p.Phe399Leu) c.1299C>A (p.Phe433Leu) c.1332C>A (p.Phe444Leu) c.1239C>A (p.Phe413Leu) c.591C>A (p.Phe197Leu) c.900C>A (p.Phe300Leu) c.264C>A (p.Phe88Leu) | |
| 3 | g.10375517_10375519del | CA658657275 | ATP2B2 | c.1195_1197del (p.Phe399del) c.1297_1299del (p.Phe433del) c.1330_1332del (p.Phe444del) c.1237_1239del (p.Phe413del) c.589_591del (p.Phe197del) c.898_900del (p.Phe300del) c.262_264del (p.Phe88del) | ClinVar dbSNP |
| 3 | g.10375515A= | CA1345182405 | ATP2B2 | c.1196T= (p.Phe399=) c.1298T= (p.Phe433=) c.1331T= (p.Phe444=) c.1238T= (p.Phe413=) c.590T= (p.Phe197=) c.899T= (p.Phe300=) c.263T= (p.Phe88=) | |
| 3 | g.10375515A>C | CA351784405 | ATP2B2 | c.1196T>G (p.Phe399Cys) c.1298T>G (p.Phe433Cys) c.1331T>G (p.Phe444Cys) c.1238T>G (p.Phe413Cys) c.590T>G (p.Phe197Cys) c.899T>G (p.Phe300Cys) c.263T>G (p.Phe88Cys) | |
| 3 | g.10375515A>G | CA351784407 | ATP2B2 | c.1196T>C (p.Phe399Ser) c.1298T>C (p.Phe433Ser) c.1331T>C (p.Phe444Ser) c.1238T>C (p.Phe413Ser) c.590T>C (p.Phe197Ser) c.899T>C (p.Phe300Ser) c.263T>C (p.Phe88Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10375515A>T | CA351784409 | ATP2B2 | c.1196T>A (p.Phe399Tyr) c.1298T>A (p.Phe433Tyr) c.1331T>A (p.Phe444Tyr) c.1238T>A (p.Phe413Tyr) c.590T>A (p.Phe197Tyr) c.899T>A (p.Phe300Tyr) c.263T>A (p.Phe88Tyr) | |
| 3 | g.10375516A>C | CA351784410 | ATP2B2 | c.1195T>G (p.Phe399Val) c.1297T>G (p.Phe433Val) c.1330T>G (p.Phe444Val) c.1237T>G (p.Phe413Val) c.589T>G (p.Phe197Val) c.898T>G (p.Phe300Val) c.262T>G (p.Phe88Val) | |
| 3 | g.10375516A>G | CA351784411 | ATP2B2 | c.1195T>C (p.Phe399Leu) c.1297T>C (p.Phe433Leu) c.1330T>C (p.Phe444Leu) c.1237T>C (p.Phe413Leu) c.589T>C (p.Phe197Leu) c.898T>C (p.Phe300Leu) c.262T>C (p.Phe88Leu) | |
| 3 | g.10375516A>T | CA351784412 | ATP2B2 | c.1195T>A (p.Phe399Ile) c.1297T>A (p.Phe433Ile) c.1330T>A (p.Phe444Ile) c.1237T>A (p.Phe413Ile) c.589T>A (p.Phe197Ile) c.898T>A (p.Phe300Ile) c.262T>A (p.Phe88Ile) | |
| 3 | g.10375517G>A | CA432441183 | ATP2B2 | c.1194C>T (p.Phe398=) c.1296C>T (p.Phe432=) c.1329C>T (p.Phe443=) c.1236C>T (p.Phe412=) c.588C>T (p.Phe196=) c.897C>T (p.Phe299=) c.261C>T (p.Phe87=) | |
| 3 | g.10375517G>C | CA351784413 | ATP2B2 | c.1194C>G (p.Phe398Leu) c.1296C>G (p.Phe432Leu) c.1329C>G (p.Phe443Leu) c.1236C>G (p.Phe412Leu) c.588C>G (p.Phe196Leu) c.897C>G (p.Phe299Leu) c.261C>G (p.Phe87Leu) | |
| 3 | g.10375517G>T | CA351784414 | ATP2B2 | c.1194C>A (p.Phe398Leu) c.1296C>A (p.Phe432Leu) c.1329C>A (p.Phe443Leu) c.1236C>A (p.Phe412Leu) c.588C>A (p.Phe196Leu) c.897C>A (p.Phe299Leu) c.261C>A (p.Phe87Leu) | gnomAD v4 |
| 3 | g.10375518A>C | CA351784417 | ATP2B2 | c.1193T>G (p.Phe398Cys) c.1295T>G (p.Phe432Cys) c.1328T>G (p.Phe443Cys) c.1235T>G (p.Phe412Cys) c.587T>G (p.Phe196Cys) c.896T>G (p.Phe299Cys) c.260T>G (p.Phe87Cys) | |
| 3 | g.10375518A>G | CA351784416 | ATP2B2 | c.1193T>C (p.Phe398Ser) c.1295T>C (p.Phe432Ser) c.1328T>C (p.Phe443Ser) c.1235T>C (p.Phe412Ser) c.587T>C (p.Phe196Ser) c.896T>C (p.Phe299Ser) c.260T>C (p.Phe87Ser) | |
| 3 | g.10375518A>T | CA351784415 | ATP2B2 | c.1193T>A (p.Phe398Tyr) c.1295T>A (p.Phe432Tyr) c.1328T>A (p.Phe443Tyr) c.1235T>A (p.Phe412Tyr) c.587T>A (p.Phe196Tyr) c.896T>A (p.Phe299Tyr) c.260T>A (p.Phe87Tyr) | |
| 3 | g.10375519A>C | CA351784418 | ATP2B2 | c.1192T>G (p.Phe398Val) c.1294T>G (p.Phe432Val) c.1327T>G (p.Phe443Val) c.1234T>G (p.Phe412Val) c.586T>G (p.Phe196Val) c.895T>G (p.Phe299Val) c.259T>G (p.Phe87Val) | |
| 3 | g.10375519A>G | CA351784419 | ATP2B2 | c.1192T>C (p.Phe398Leu) c.1294T>C (p.Phe432Leu) c.1327T>C (p.Phe443Leu) c.1234T>C (p.Phe412Leu) c.586T>C (p.Phe196Leu) c.895T>C (p.Phe299Leu) c.259T>C (p.Phe87Leu) | |
| 3 | g.10375519A>T | CA351784420 | ATP2B2 | c.1192T>A (p.Phe398Ile) c.1294T>A (p.Phe432Ile) c.1327T>A (p.Phe443Ile) c.1234T>A (p.Phe412Ile) c.586T>A (p.Phe196Ile) c.895T>A (p.Phe299Ile) c.259T>A (p.Phe87Ile) | |
| 3 | g.10375520C>A | CA351784421 | ATP2B2 | c.1191G>T (p.Lys397Asn) c.1293G>T (p.Lys431Asn) c.1326G>T (p.Lys442Asn) c.1233G>T (p.Lys411Asn) c.585G>T (p.Lys195Asn) c.894G>T (p.Lys298Asn) c.258G>T (p.Lys86Asn) | |
| 3 | g.10375520C>G | CA351784422 | ATP2B2 | c.1191G>C (p.Lys397Asn) c.1293G>C (p.Lys431Asn) c.1326G>C (p.Lys442Asn) c.1233G>C (p.Lys411Asn) c.585G>C (p.Lys195Asn) c.894G>C (p.Lys298Asn) c.258G>C (p.Lys86Asn) | gnomAD v4 |
| 3 | g.10375520C>T | CA432441191 | ATP2B2 | c.1191G>A (p.Lys397=) c.1293G>A (p.Lys431=) c.1326G>A (p.Lys442=) c.1233G>A (p.Lys411=) c.585G>A (p.Lys195=) c.894G>A (p.Lys298=) c.258G>A (p.Lys86=) | |
| 3 | g.10375521T>A | CA351784423 | ATP2B2 | c.1190A>T (p.Lys397Met) c.1292A>T (p.Lys431Met) c.1325A>T (p.Lys442Met) c.1232A>T (p.Lys411Met) c.584A>T (p.Lys195Met) c.893A>T (p.Lys298Met) c.257A>T (p.Lys86Met) | |
| 3 | g.10375521T>C | CA351784424 | ATP2B2 | c.1190A>G (p.Lys397Arg) c.1292A>G (p.Lys431Arg) c.1325A>G (p.Lys442Arg) c.1232A>G (p.Lys411Arg) c.584A>G (p.Lys195Arg) c.893A>G (p.Lys298Arg) c.257A>G (p.Lys86Arg) | |
| 3 | g.10375521T>G | CA351784425 | ATP2B2 | c.1190A>C (p.Lys397Thr) c.1292A>C (p.Lys431Thr) c.1325A>C (p.Lys442Thr) c.1232A>C (p.Lys411Thr) c.584A>C (p.Lys195Thr) c.893A>C (p.Lys298Thr) c.257A>C (p.Lys86Thr) | |
| 3 | g.10375522T>A | CA351784426 | ATP2B2 | c.1189A>T (p.Lys397Ter) c.1291A>T (p.Lys431Ter) c.1324A>T (p.Lys442Ter) c.1231A>T (p.Lys411Ter) c.583A>T (p.Lys195Ter) c.892A>T (p.Lys298Ter) c.256A>T (p.Lys86Ter) | |
| 3 | g.10375522T>C | CA351784427 | ATP2B2 | c.1189A>G (p.Lys397Glu) c.1291A>G (p.Lys431Glu) c.1324A>G (p.Lys442Glu) c.1231A>G (p.Lys411Glu) c.583A>G (p.Lys195Glu) c.892A>G (p.Lys298Glu) c.256A>G (p.Lys86Glu) | COSMIC COSMIC |
| 3 | g.10375522T>G | CA351784428 | ATP2B2 | c.1189A>C (p.Lys397Gln) c.1291A>C (p.Lys431Gln) c.1324A>C (p.Lys442Gln) c.1231A>C (p.Lys411Gln) c.583A>C (p.Lys195Gln) c.892A>C (p.Lys298Gln) c.256A>C (p.Lys86Gln) | |
| 3 | g.10375523G>A | CA432441197 | ATP2B2 | c.1188C>T (p.Val396=) c.1290C>T (p.Val430=) c.1323C>T (p.Val441=) c.1230C>T (p.Val410=) c.582C>T (p.Val194=) c.891C>T (p.Val297=) c.255C>T (p.Val85=) | |
| 3 | g.10375523G>C | CA432441198 | ATP2B2 | c.1188C>G (p.Val396=) c.1290C>G (p.Val430=) c.1323C>G (p.Val441=) c.1230C>G (p.Val410=) c.582C>G (p.Val194=) c.891C>G (p.Val297=) c.255C>G (p.Val85=) | |
| 3 | g.10375523G>T | CA432441199 | ATP2B2 | c.1188C>A (p.Val396=) c.1290C>A (p.Val430=) c.1323C>A (p.Val441=) c.1230C>A (p.Val410=) c.582C>A (p.Val194=) c.891C>A (p.Val297=) c.255C>A (p.Val85=) | |
| 3 | g.10375524A>C | CA351784431 | ATP2B2 | c.1187T>G (p.Val396Gly) c.1289T>G (p.Val430Gly) c.1322T>G (p.Val441Gly) c.1229T>G (p.Val410Gly) c.581T>G (p.Val194Gly) c.890T>G (p.Val297Gly) c.254T>G (p.Val85Gly) | |
| 3 | g.10375524A>G | CA351784430 | ATP2B2 | c.1187T>C (p.Val396Ala) c.1289T>C (p.Val430Ala) c.1322T>C (p.Val441Ala) c.1229T>C (p.Val410Ala) c.581T>C (p.Val194Ala) c.890T>C (p.Val297Ala) c.254T>C (p.Val85Ala) | |
| 3 | g.10375524A>T | CA351784429 | ATP2B2 | c.1187T>A (p.Val396Asp) c.1289T>A (p.Val430Asp) c.1322T>A (p.Val441Asp) c.1229T>A (p.Val410Asp) c.581T>A (p.Val194Asp) c.890T>A (p.Val297Asp) c.254T>A (p.Val85Asp) | |
| 3 | g.10375525C>A | CA351784432 | ATP2B2 | c.1186G>T (p.Val396Phe) c.1288G>T (p.Val430Phe) c.1321G>T (p.Val441Phe) c.1228G>T (p.Val410Phe) c.580G>T (p.Val194Phe) c.889G>T (p.Val297Phe) c.253G>T (p.Val85Phe) | |
| 3 | g.10375525C>G | CA351784433 | ATP2B2 | c.1186G>C (p.Val396Leu) c.1288G>C (p.Val430Leu) c.1321G>C (p.Val441Leu) c.1228G>C (p.Val410Leu) c.580G>C (p.Val194Leu) c.889G>C (p.Val297Leu) c.253G>C (p.Val85Leu) | |
| 3 | g.10375525C>T | CA351784434 | ATP2B2 | c.1186G>A (p.Val396Ile) c.1288G>A (p.Val430Ile) c.1321G>A (p.Val441Ile) c.1228G>A (p.Val410Ile) c.580G>A (p.Val194Ile) c.889G>A (p.Val297Ile) c.253G>A (p.Val85Ile) | |
| 3 | g.10375526A>C | CA351784435 | ATP2B2 | c.1185T>G (p.Phe395Leu) c.1287T>G (p.Phe429Leu) c.1320T>G (p.Phe440Leu) c.1227T>G (p.Phe409Leu) c.579T>G (p.Phe193Leu) c.888T>G (p.Phe296Leu) c.252T>G (p.Phe84Leu) | |
| 3 | g.10375526A>G | CA432441208 | ATP2B2 | c.1185T>C (p.Phe395=) c.1287T>C (p.Phe429=) c.1320T>C (p.Phe440=) c.1227T>C (p.Phe409=) c.579T>C (p.Phe193=) c.888T>C (p.Phe296=) c.252T>C (p.Phe84=) | |
| 3 | g.10375526A>T | CA351784436 | ATP2B2 | c.1185T>A (p.Phe395Leu) c.1287T>A (p.Phe429Leu) c.1320T>A (p.Phe440Leu) c.1227T>A (p.Phe409Leu) c.579T>A (p.Phe193Leu) c.888T>A (p.Phe296Leu) c.252T>A (p.Phe84Leu) | |
| 3 | g.10375527A>C | CA351784437 | ATP2B2 | c.1184T>G (p.Phe395Cys) c.1286T>G (p.Phe429Cys) c.1319T>G (p.Phe440Cys) c.1226T>G (p.Phe409Cys) c.578T>G (p.Phe193Cys) c.887T>G (p.Phe296Cys) c.251T>G (p.Phe84Cys) | |
| 3 | g.10375527A>G | CA351784438 | ATP2B2 | c.1184T>C (p.Phe395Ser) c.1286T>C (p.Phe429Ser) c.1319T>C (p.Phe440Ser) c.1226T>C (p.Phe409Ser) c.578T>C (p.Phe193Ser) c.887T>C (p.Phe296Ser) c.251T>C (p.Phe84Ser) | |
| 3 | g.10375527A>T | CA351784439 | ATP2B2 | c.1184T>A (p.Phe395Tyr) c.1286T>A (p.Phe429Tyr) c.1319T>A (p.Phe440Tyr) c.1226T>A (p.Phe409Tyr) c.578T>A (p.Phe193Tyr) c.887T>A (p.Phe296Tyr) c.251T>A (p.Phe84Tyr) | |
| 3 | g.10375528A= | CA1345182409 | ATP2B2 | c.1183T= (p.Phe395=) c.1285T= (p.Phe429=) c.1318T= (p.Phe440=) c.1225T= (p.Phe409=) c.577T= (p.Phe193=) c.886T= (p.Phe296=) c.250T= (p.Phe84=) | |
| 3 | g.10375528A>C | CA351784440 | ATP2B2 | c.1183T>G (p.Phe395Val) c.1285T>G (p.Phe429Val) c.1318T>G (p.Phe440Val) c.1225T>G (p.Phe409Val) c.577T>G (p.Phe193Val) c.886T>G (p.Phe296Val) c.250T>G (p.Phe84Val) | |
| 3 | g.10375528A>G | CA351784441 | ATP2B2 | c.1183T>C (p.Phe395Leu) c.1285T>C (p.Phe429Leu) c.1318T>C (p.Phe440Leu) c.1225T>C (p.Phe409Leu) c.577T>C (p.Phe193Leu) c.886T>C (p.Phe296Leu) c.250T>C (p.Phe84Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10375528A>T | CA351784442 | ATP2B2 | c.1183T>A (p.Phe395Ile) c.1285T>A (p.Phe429Ile) c.1318T>A (p.Phe440Ile) c.1225T>A (p.Phe409Ile) c.577T>A (p.Phe193Ile) c.886T>A (p.Phe296Ile) c.250T>A (p.Phe84Ile) | |
| 3 | g.10375529G>A | CA70116190 | ATP2B2 | c.1182C>T (p.Tyr394=) c.1284C>T (p.Tyr428=) c.1317C>T (p.Tyr439=) c.1224C>T (p.Tyr408=) c.576C>T (p.Tyr192=) c.885C>T (p.Tyr295=) c.249C>T (p.Tyr83=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10375529G>C | CA351784443 | ATP2B2 | c.1182C>G (p.Tyr394Ter) c.1284C>G (p.Tyr428Ter) c.1317C>G (p.Tyr439Ter) c.1224C>G (p.Tyr408Ter) c.576C>G (p.Tyr192Ter) c.885C>G (p.Tyr295Ter) c.249C>G (p.Tyr83Ter) | |
| 3 | g.10375529G= | CA1345182411 | ATP2B2 | c.1182C= (p.Tyr394=) c.1284C= (p.Tyr428=) c.1317C= (p.Tyr439=) c.1224C= (p.Tyr408=) c.576C= (p.Tyr192=) c.885C= (p.Tyr295=) c.249C= (p.Tyr83=) | |
| 3 | g.10375529G>T | CA351784444 | ATP2B2 | c.1182C>A (p.Tyr394Ter) c.1284C>A (p.Tyr428Ter) c.1317C>A (p.Tyr439Ter) c.1224C>A (p.Tyr408Ter) c.576C>A (p.Tyr192Ter) c.885C>A (p.Tyr295Ter) c.249C>A (p.Tyr83Ter) | |
| 3 | g.10375530T>A | CA2253695 | ATP2B2 | c.1181A>T (p.Tyr394Phe) c.1283A>T (p.Tyr428Phe) c.1316A>T (p.Tyr439Phe) c.1223A>T (p.Tyr408Phe) c.575A>T (p.Tyr192Phe) c.884A>T (p.Tyr295Phe) c.248A>T (p.Tyr83Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375530T>C | CA351784446 | ATP2B2 | c.1181A>G (p.Tyr394Cys) c.1283A>G (p.Tyr428Cys) c.1316A>G (p.Tyr439Cys) c.1223A>G (p.Tyr408Cys) c.575A>G (p.Tyr192Cys) c.884A>G (p.Tyr295Cys) c.248A>G (p.Tyr83Cys) | |
| 3 | g.10375530T>G | CA351784445 | ATP2B2 | c.1181A>C (p.Tyr394Ser) c.1283A>C (p.Tyr428Ser) c.1316A>C (p.Tyr439Ser) c.1223A>C (p.Tyr408Ser) c.575A>C (p.Tyr192Ser) c.884A>C (p.Tyr295Ser) c.248A>C (p.Tyr83Ser) | |
| 3 | g.10375530T= | CA1345182413 | ATP2B2 | c.1181A= (p.Tyr394=) c.1283A= (p.Tyr428=) c.1316A= (p.Tyr439=) c.1223A= (p.Tyr408=) c.575A= (p.Tyr192=) c.884A= (p.Tyr295=) c.248A= (p.Tyr83=) | |
| 3 | g.10375531A>C | CA351784447 | ATP2B2 | c.1180T>G (p.Tyr394Asp) c.1282T>G (p.Tyr428Asp) c.1315T>G (p.Tyr439Asp) c.1222T>G (p.Tyr408Asp) c.574T>G (p.Tyr192Asp) c.883T>G (p.Tyr295Asp) c.247T>G (p.Tyr83Asp) | |
| 3 | g.10375531A>G | CA351784448 | ATP2B2 | c.1180T>C (p.Tyr394His) c.1282T>C (p.Tyr428His) c.1315T>C (p.Tyr439His) c.1222T>C (p.Tyr408His) c.574T>C (p.Tyr192His) c.883T>C (p.Tyr295His) c.247T>C (p.Tyr83His) | gnomAD v4 |
| 3 | g.10375531A>T | CA351784449 | ATP2B2 | c.1180T>A (p.Tyr394Asn) c.1282T>A (p.Tyr428Asn) c.1315T>A (p.Tyr439Asn) c.1222T>A (p.Tyr408Asn) c.574T>A (p.Tyr192Asn) c.883T>A (p.Tyr295Asn) c.247T>A (p.Tyr83Asn) | |
| 3 | g.10375532C>A | CA351784450 | ATP2B2 | c.1179G>T (p.Gln393His) c.1281G>T (p.Gln427His) c.1314G>T (p.Gln438His) c.1221G>T (p.Gln407His) c.573G>T (p.Gln191His) c.882G>T (p.Gln294His) c.246G>T (p.Gln82His) | |
| 3 | g.10375532C>G | CA351784451 | ATP2B2 | c.1179G>C (p.Gln393His) c.1281G>C (p.Gln427His) c.1314G>C (p.Gln438His) c.1221G>C (p.Gln407His) c.573G>C (p.Gln191His) c.882G>C (p.Gln294His) c.246G>C (p.Gln82His) | |
| 3 | g.10375532C>T | CA432441224 | ATP2B2 | c.1179G>A (p.Gln393=) c.1281G>A (p.Gln427=) c.1314G>A (p.Gln438=) c.1221G>A (p.Gln407=) c.573G>A (p.Gln191=) c.882G>A (p.Gln294=) c.246G>A (p.Gln82=) | |
| 3 | g.10375533T>A | CA351784454 | ATP2B2 | c.1178A>T (p.Gln393Leu) c.1280A>T (p.Gln427Leu) c.1313A>T (p.Gln438Leu) c.1220A>T (p.Gln407Leu) c.572A>T (p.Gln191Leu) c.881A>T (p.Gln294Leu) c.245A>T (p.Gln82Leu) | |
| 3 | g.10375533T>C | CA351784453 | ATP2B2 | c.1178A>G (p.Gln393Arg) c.1280A>G (p.Gln427Arg) c.1313A>G (p.Gln438Arg) c.1220A>G (p.Gln407Arg) c.572A>G (p.Gln191Arg) c.881A>G (p.Gln294Arg) c.245A>G (p.Gln82Arg) | |
| 3 | g.10375533T>G | CA351784452 | ATP2B2 | c.1178A>C (p.Gln393Pro) c.1280A>C (p.Gln427Pro) c.1313A>C (p.Gln438Pro) c.1220A>C (p.Gln407Pro) c.572A>C (p.Gln191Pro) c.881A>C (p.Gln294Pro) c.245A>C (p.Gln82Pro) | |
| 3 | g.10375534G>A | CA351784455 | ATP2B2 | c.1177C>T (p.Gln393Ter) c.1279C>T (p.Gln427Ter) c.1312C>T (p.Gln438Ter) c.1219C>T (p.Gln407Ter) c.571C>T (p.Gln191Ter) c.880C>T (p.Gln294Ter) c.244C>T (p.Gln82Ter) | |
| 3 | g.10375534G>C | CA351784456 | ATP2B2 | c.1177C>G (p.Gln393Glu) c.1279C>G (p.Gln427Glu) c.1312C>G (p.Gln438Glu) c.1219C>G (p.Gln407Glu) c.571C>G (p.Gln191Glu) c.880C>G (p.Gln294Glu) c.244C>G (p.Gln82Glu) | |
| 3 | g.10375534G>T | CA351784457 | ATP2B2 | c.1177C>A (p.Gln393Lys) c.1279C>A (p.Gln427Lys) c.1312C>A (p.Gln438Lys) c.1219C>A (p.Gln407Lys) c.571C>A (p.Gln191Lys) c.880C>A (p.Gln294Lys) c.244C>A (p.Gln82Lys) | |
| 3 | g.10375535_10375538del | CA645516290 | ATP2B2 | c.1174_1177del (p.Val392SerfsTer11) c.1276_1279del (p.Val426SerfsTer11) c.1309_1312del (p.Val437SerfsTer11) c.1216_1219del (p.Val406SerfsTer11) c.568_571del (p.Val190SerfsTer11) c.877_880del (p.Val293SerfsTer11) c.241_244del (p.Val81SerfsTer11) | COSMIC COSMIC |
| 3 | g.10375535C>A | CA2253696 | ATP2B2 | c.1176G>T (p.Val392=) c.1278G>T (p.Val426=) c.1311G>T (p.Val437=) c.1218G>T (p.Val406=) c.570G>T (p.Val190=) c.879G>T (p.Val293=) c.243G>T (p.Val81=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10375535C= | CA1345182416 | ATP2B2 | c.1176G= (p.Val392=) c.1278G= (p.Val426=) c.1311G= (p.Val437=) c.1218G= (p.Val406=) c.570G= (p.Val190=) c.879G= (p.Val293=) c.243G= (p.Val81=) | |
| 3 | g.10375535C>G | CA432441232 | ATP2B2 | c.1176G>C (p.Val392=) c.1278G>C (p.Val426=) c.1311G>C (p.Val437=) c.1218G>C (p.Val406=) c.570G>C (p.Val190=) c.879G>C (p.Val293=) c.243G>C (p.Val81=) | |
| 3 | g.10375535C>T | CA432441233 | ATP2B2 | c.1176G>A (p.Val392=) c.1278G>A (p.Val426=) c.1311G>A (p.Val437=) c.1218G>A (p.Val406=) c.570G>A (p.Val190=) c.879G>A (p.Val293=) c.243G>A (p.Val81=) | dbSNP |
| 3 | g.10375536A>C | CA351784458 | ATP2B2 | c.1175T>G (p.Val392Gly) c.1277T>G (p.Val426Gly) c.1310T>G (p.Val437Gly) c.1217T>G (p.Val406Gly) c.569T>G (p.Val190Gly) c.878T>G (p.Val293Gly) c.242T>G (p.Val81Gly) | |
| 3 | g.10375536A>G | CA351784459 | ATP2B2 | c.1175T>C (p.Val392Ala) c.1277T>C (p.Val426Ala) c.1310T>C (p.Val437Ala) c.1217T>C (p.Val406Ala) c.569T>C (p.Val190Ala) c.878T>C (p.Val293Ala) c.242T>C (p.Val81Ala) | gnomAD v4 |
| 3 | g.10375536A>T | CA351784460 | ATP2B2 | c.1175T>A (p.Val392Glu) c.1277T>A (p.Val426Glu) c.1310T>A (p.Val437Glu) c.1217T>A (p.Val406Glu) c.569T>A (p.Val190Glu) c.878T>A (p.Val293Glu) c.242T>A (p.Val81Glu) | |
| 3 | g.10375537C>A | CA351784461 | ATP2B2 | c.1174G>T (p.Val392Leu) c.1276G>T (p.Val426Leu) c.1309G>T (p.Val437Leu) c.1216G>T (p.Val406Leu) c.568G>T (p.Val190Leu) c.877G>T (p.Val293Leu) c.241G>T (p.Val81Leu) | |
| 3 | g.10375537C= | CA1345182420 | ATP2B2 | c.1174G= (p.Val392=) c.1276G= (p.Val426=) c.1309G= (p.Val437=) c.1216G= (p.Val406=) c.568G= (p.Val190=) c.877G= (p.Val293=) c.241G= (p.Val81=) | |
| 3 | g.10375537C>G | CA351784462 | ATP2B2 | c.1174G>C (p.Val392Leu) c.1276G>C (p.Val426Leu) c.1309G>C (p.Val437Leu) c.1216G>C (p.Val406Leu) c.568G>C (p.Val190Leu) c.877G>C (p.Val293Leu) c.241G>C (p.Val81Leu) | |
| 3 | g.10375537C>T | CA2253697 | ATP2B2 | c.1174G>A (p.Val392Met) c.1276G>A (p.Val426Met) c.1309G>A (p.Val437Met) c.1216G>A (p.Val406Met) c.568G>A (p.Val190Met) c.877G>A (p.Val293Met) c.241G>A (p.Val81Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10375538G>A | CA2253698 | ATP2B2 | c.1173C>T (p.Tyr391=) c.1275C>T (p.Tyr425=) c.1308C>T (p.Tyr436=) c.1215C>T (p.Tyr405=) c.567C>T (p.Tyr189=) c.876C>T (p.Tyr292=) c.240C>T (p.Tyr80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.10375538G>C | CA351784463 | ATP2B2 | c.1173C>G (p.Tyr391Ter) c.1275C>G (p.Tyr425Ter) c.1308C>G (p.Tyr436Ter) c.1215C>G (p.Tyr405Ter) c.567C>G (p.Tyr189Ter) c.876C>G (p.Tyr292Ter) c.240C>G (p.Tyr80Ter) | |
| 3 | g.10375538G= | CA1345182428 | ATP2B2 | c.1173C= (p.Tyr391=) c.1275C= (p.Tyr425=) c.1308C= (p.Tyr436=) c.1215C= (p.Tyr405=) c.567C= (p.Tyr189=) c.876C= (p.Tyr292=) c.240C= (p.Tyr80=) | |
| 3 | g.10375538G>T | CA351784464 | ATP2B2 | c.1173C>A (p.Tyr391Ter) c.1275C>A (p.Tyr425Ter) c.1308C>A (p.Tyr436Ter) c.1215C>A (p.Tyr405Ter) c.567C>A (p.Tyr189Ter) c.876C>A (p.Tyr292Ter) c.240C>A (p.Tyr80Ter) | |
| 3 | g.10375539T>A | CA351784465 | ATP2B2 | c.1172A>T (p.Tyr391Phe) c.1274A>T (p.Tyr425Phe) c.1307A>T (p.Tyr436Phe) c.1214A>T (p.Tyr405Phe) c.566A>T (p.Tyr189Phe) c.875A>T (p.Tyr292Phe) c.239A>T (p.Tyr80Phe) | |
| 3 | g.10375539T>C | CA351784466 | ATP2B2 | c.1172A>G (p.Tyr391Cys) c.1274A>G (p.Tyr425Cys) c.1307A>G (p.Tyr436Cys) c.1214A>G (p.Tyr405Cys) c.566A>G (p.Tyr189Cys) c.875A>G (p.Tyr292Cys) c.239A>G (p.Tyr80Cys) | |
| 3 | g.10375539T>G | CA351784467 | ATP2B2 | c.1172A>C (p.Tyr391Ser) c.1274A>C (p.Tyr425Ser) c.1307A>C (p.Tyr436Ser) c.1214A>C (p.Tyr405Ser) c.566A>C (p.Tyr189Ser) c.875A>C (p.Tyr292Ser) c.239A>C (p.Tyr80Ser) | |
| 3 | g.10375540del | CA432441249 | ATP2B2 | c.1171del (p.Tyr391ThrfsTer13) c.1273del (p.Tyr425ThrfsTer13) c.1306del (p.Tyr436ThrfsTer13) c.1213del (p.Tyr405ThrfsTer13) c.565del (p.Tyr189ThrfsTer13) c.874del (p.Tyr292ThrfsTer13) c.238del (p.Tyr80ThrfsTer13) | COSMIC COSMIC |
| 3 | g.10375540A>C | CA351784468 | ATP2B2 | c.1171T>G (p.Tyr391Asp) c.1273T>G (p.Tyr425Asp) c.1306T>G (p.Tyr436Asp) c.1213T>G (p.Tyr405Asp) c.565T>G (p.Tyr189Asp) c.874T>G (p.Tyr292Asp) c.238T>G (p.Tyr80Asp) | |
| 3 | g.10375540A>G | CA351784469 | ATP2B2 | c.1171T>C (p.Tyr391His) c.1273T>C (p.Tyr425His) c.1306T>C (p.Tyr436His) c.1213T>C (p.Tyr405His) c.565T>C (p.Tyr189His) c.874T>C (p.Tyr292His) c.238T>C (p.Tyr80His) | |
| 3 | g.10375540A>T | CA351784470 | ATP2B2 | c.1171T>A (p.Tyr391Asn) c.1273T>A (p.Tyr425Asn) c.1306T>A (p.Tyr436Asn) c.1213T>A (p.Tyr405Asn) c.565T>A (p.Tyr189Asn) c.874T>A (p.Tyr292Asn) c.238T>A (p.Tyr80Asn) | |
| 3 | g.10375541_10375542del | CA2577507051 | ATP2B2 | c.1170_1171del (p.Tyr391ArgfsTer?) c.1272_1273del (p.Tyr425ArgfsTer?) c.1305_1306del (p.Tyr436ArgfsTer?) c.1212_1213del (p.Tyr405ArgfsTer?) c.564_565del (p.Tyr189ArgfsTer?) c.873_874del (p.Tyr292ArgfsTer?) c.237_238del (p.Tyr80ArgfsTer?) |