| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10359952T>A | CA351781292 | ATP2B2 | c.1696A>T (p.Thr566Ser) c.1798A>T (p.Thr600Ser) c.1831A>T (p.Thr611Ser) c.1738A>T (p.Thr580Ser) c.1090A>T (p.Thr364Ser) c.1399A>T (p.Thr467Ser) c.763A>T (p.Thr255Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10359952T>C | CA351781293 | ATP2B2 | c.1696A>G (p.Thr566Ala) c.1798A>G (p.Thr600Ala) c.1831A>G (p.Thr611Ala) c.1738A>G (p.Thr580Ala) c.1090A>G (p.Thr364Ala) c.1399A>G (p.Thr467Ala) c.763A>G (p.Thr255Ala) | |
| 3 | g.10359952T>G | CA351781294 | ATP2B2 | c.1696A>C (p.Thr566Pro) c.1798A>C (p.Thr600Pro) c.1831A>C (p.Thr611Pro) c.1738A>C (p.Thr580Pro) c.1090A>C (p.Thr364Pro) c.1399A>C (p.Thr467Pro) c.763A>C (p.Thr255Pro) | |
| 3 | g.10359952T= | CA1345191736 | ATP2B2 | c.1696A= (p.Thr566=) c.1798A= (p.Thr600=) c.1831A= (p.Thr611=) c.1738A= (p.Thr580=) c.1090A= (p.Thr364=) c.1399A= (p.Thr467=) c.763A= (p.Thr255=) | |
| 3 | g.10359953G>A | CA432537850 | ATP2B2 | c.1695C>T (p.Ser565=) c.1797C>T (p.Ser599=) c.1830C>T (p.Ser610=) c.1737C>T (p.Ser579=) c.1089C>T (p.Ser363=) c.1398C>T (p.Ser466=) c.762C>T (p.Ser254=) | gnomAD v4 |
| 3 | g.10359953G>C | CA351781295 | ATP2B2 | c.1695C>G (p.Ser565Arg) c.1797C>G (p.Ser599Arg) c.1830C>G (p.Ser610Arg) c.1737C>G (p.Ser579Arg) c.1089C>G (p.Ser363Arg) c.1398C>G (p.Ser466Arg) c.762C>G (p.Ser254Arg) | |
| 3 | g.10359953G>T | CA351781296 | ATP2B2 | c.1695C>A (p.Ser565Arg) c.1797C>A (p.Ser599Arg) c.1830C>A (p.Ser610Arg) c.1737C>A (p.Ser579Arg) c.1089C>A (p.Ser363Arg) c.1398C>A (p.Ser466Arg) c.762C>A (p.Ser254Arg) | |
| 3 | g.10359954C>A | CA351781298 | ATP2B2 | c.1694G>T (p.Ser565Ile) c.1796G>T (p.Ser599Ile) c.1829G>T (p.Ser610Ile) c.1736G>T (p.Ser579Ile) c.1088G>T (p.Ser363Ile) c.1397G>T (p.Ser466Ile) c.761G>T (p.Ser254Ile) | |
| 3 | g.10359954C= | CA1345191739 | ATP2B2 | c.1694G= (p.Ser565=) c.1796G= (p.Ser599=) c.1829G= (p.Ser610=) c.1736G= (p.Ser579=) c.1088G= (p.Ser363=) c.1397G= (p.Ser466=) c.761G= (p.Ser254=) | |
| 3 | g.10359954C>G | CA351781299 | ATP2B2 | c.1694G>C (p.Ser565Thr) c.1796G>C (p.Ser599Thr) c.1829G>C (p.Ser610Thr) c.1736G>C (p.Ser579Thr) c.1088G>C (p.Ser363Thr) c.1397G>C (p.Ser466Thr) c.761G>C (p.Ser254Thr) | ClinVar dbSNP |
| 3 | g.10359954C>T | CA351781297 | ATP2B2 | c.1694G>A (p.Ser565Asn) c.1796G>A (p.Ser599Asn) c.1829G>A (p.Ser610Asn) c.1736G>A (p.Ser579Asn) c.1088G>A (p.Ser363Asn) c.1397G>A (p.Ser466Asn) c.761G>A (p.Ser254Asn) | dbSNP |
| 3 | g.10359955T>A | CA351781302 | ATP2B2 | c.1693A>T (p.Ser565Cys) c.1795A>T (p.Ser599Cys) c.1828A>T (p.Ser610Cys) c.1735A>T (p.Ser579Cys) c.1087A>T (p.Ser363Cys) c.1396A>T (p.Ser466Cys) c.760A>T (p.Ser254Cys) | |
| 3 | g.10359955T>C | CA351781300 | ATP2B2 | c.1693A>G (p.Ser565Gly) c.1795A>G (p.Ser599Gly) c.1828A>G (p.Ser610Gly) c.1735A>G (p.Ser579Gly) c.1087A>G (p.Ser363Gly) c.1396A>G (p.Ser466Gly) c.760A>G (p.Ser254Gly) | |
| 3 | g.10359955T>G | CA351781301 | ATP2B2 | c.1693A>C (p.Ser565Arg) c.1795A>C (p.Ser599Arg) c.1828A>C (p.Ser610Arg) c.1735A>C (p.Ser579Arg) c.1087A>C (p.Ser363Arg) c.1396A>C (p.Ser466Arg) c.760A>C (p.Ser254Arg) | |
| 3 | g.10359956C>A | CA351781303 | ATP2B2 | c.1692G>T (p.Met564Ile) c.1794G>T (p.Met598Ile) c.1827G>T (p.Met609Ile) c.1734G>T (p.Met578Ile) c.1086G>T (p.Met362Ile) c.1395G>T (p.Met465Ile) c.759G>T (p.Met253Ile) | |
| 3 | g.10359956C>G | CA351781304 | ATP2B2 | c.1692G>C (p.Met564Ile) c.1794G>C (p.Met598Ile) c.1827G>C (p.Met609Ile) c.1734G>C (p.Met578Ile) c.1086G>C (p.Met362Ile) c.1395G>C (p.Met465Ile) c.759G>C (p.Met253Ile) | |
| 3 | g.10359956C>T | CA351781305 | ATP2B2 | c.1692G>A (p.Met564Ile) c.1794G>A (p.Met598Ile) c.1827G>A (p.Met609Ile) c.1734G>A (p.Met578Ile) c.1086G>A (p.Met362Ile) c.1395G>A (p.Met465Ile) c.759G>A (p.Met253Ile) | |
| 3 | g.10359957A>C | CA351781306 | ATP2B2 | c.1691T>G (p.Met564Arg) c.1793T>G (p.Met598Arg) c.1826T>G (p.Met609Arg) c.1733T>G (p.Met578Arg) c.1085T>G (p.Met362Arg) c.1394T>G (p.Met465Arg) c.758T>G (p.Met253Arg) | |
| 3 | g.10359957A>G | CA351781307 | ATP2B2 | c.1691T>C (p.Met564Thr) c.1793T>C (p.Met598Thr) c.1826T>C (p.Met609Thr) c.1733T>C (p.Met578Thr) c.1085T>C (p.Met362Thr) c.1394T>C (p.Met465Thr) c.758T>C (p.Met253Thr) | ClinVar dbSNP |
| 3 | g.10359957A>T | CA351781308 | ATP2B2 | c.1691T>A (p.Met564Lys) c.1793T>A (p.Met598Lys) c.1826T>A (p.Met609Lys) c.1733T>A (p.Met578Lys) c.1085T>A (p.Met362Lys) c.1394T>A (p.Met465Lys) c.758T>A (p.Met253Lys) | |
| 3 | g.10359958T>A | CA351781309 | ATP2B2 | c.1690A>T (p.Met564Leu) c.1792A>T (p.Met598Leu) c.1825A>T (p.Met609Leu) c.1732A>T (p.Met578Leu) c.1084A>T (p.Met362Leu) c.1393A>T (p.Met465Leu) c.757A>T (p.Met253Leu) | |
| 3 | g.10359958T>C | CA351781310 | ATP2B2 | c.1690A>G (p.Met564Val) c.1792A>G (p.Met598Val) c.1825A>G (p.Met609Val) c.1732A>G (p.Met578Val) c.1084A>G (p.Met362Val) c.1393A>G (p.Met465Val) c.757A>G (p.Met253Val) | |
| 3 | g.10359958T>G | CA351781311 | ATP2B2 | c.1690A>C (p.Met564Leu) c.1792A>C (p.Met598Leu) c.1825A>C (p.Met609Leu) c.1732A>C (p.Met578Leu) c.1084A>C (p.Met362Leu) c.1393A>C (p.Met465Leu) c.757A>C (p.Met253Leu) | |
| 3 | g.10359959G>A | CA432537851 | ATP2B2 | c.1689C>T (p.Ser563=) c.1791C>T (p.Ser597=) c.1824C>T (p.Ser608=) c.1731C>T (p.Ser577=) c.1083C>T (p.Ser361=) c.1392C>T (p.Ser464=) c.756C>T (p.Ser252=) | |
| 3 | g.10359959G>C | CA432537852 | ATP2B2 | c.1689C>G (p.Ser563=) c.1791C>G (p.Ser597=) c.1824C>G (p.Ser608=) c.1731C>G (p.Ser577=) c.1083C>G (p.Ser361=) c.1392C>G (p.Ser464=) c.756C>G (p.Ser252=) | |
| 3 | g.10359959G= | CA1345191742 | ATP2B2 | c.1689C= (p.Ser563=) c.1791C= (p.Ser597=) c.1824C= (p.Ser608=) c.1731C= (p.Ser577=) c.1083C= (p.Ser361=) c.1392C= (p.Ser464=) c.756C= (p.Ser252=) | |
| 3 | g.10359959G>T | CA432537853 | ATP2B2 | c.1689C>A (p.Ser563=) c.1791C>A (p.Ser597=) c.1824C>A (p.Ser608=) c.1731C>A (p.Ser577=) c.1083C>A (p.Ser361=) c.1392C>A (p.Ser464=) c.756C>A (p.Ser252=) | dbSNP gnomAD v4 |
| 3 | g.10359960G>A | CA351781314 | ATP2B2 | c.1688C>T (p.Ser563Phe) c.1790C>T (p.Ser597Phe) c.1823C>T (p.Ser608Phe) c.1730C>T (p.Ser577Phe) c.1082C>T (p.Ser361Phe) c.1391C>T (p.Ser464Phe) c.755C>T (p.Ser252Phe) | |
| 3 | g.10359960G>C | CA351781313 | ATP2B2 | c.1688C>G (p.Ser563Cys) c.1790C>G (p.Ser597Cys) c.1823C>G (p.Ser608Cys) c.1730C>G (p.Ser577Cys) c.1082C>G (p.Ser361Cys) c.1391C>G (p.Ser464Cys) c.755C>G (p.Ser252Cys) | |
| 3 | g.10359960G>T | CA351781312 | ATP2B2 | c.1688C>A (p.Ser563Tyr) c.1790C>A (p.Ser597Tyr) c.1823C>A (p.Ser608Tyr) c.1730C>A (p.Ser577Tyr) c.1082C>A (p.Ser361Tyr) c.1391C>A (p.Ser464Tyr) c.755C>A (p.Ser252Tyr) | |
| 3 | g.10359961A>C | CA351781315 | ATP2B2 | c.1687T>G (p.Ser563Ala) c.1789T>G (p.Ser597Ala) c.1822T>G (p.Ser608Ala) c.1729T>G (p.Ser577Ala) c.1081T>G (p.Ser361Ala) c.1390T>G (p.Ser464Ala) c.754T>G (p.Ser252Ala) | |
| 3 | g.10359961A>G | CA351781316 | ATP2B2 | c.1687T>C (p.Ser563Pro) c.1789T>C (p.Ser597Pro) c.1822T>C (p.Ser608Pro) c.1729T>C (p.Ser577Pro) c.1081T>C (p.Ser361Pro) c.1390T>C (p.Ser464Pro) c.754T>C (p.Ser252Pro) | |
| 3 | g.10359961A>T | CA351781317 | ATP2B2 | c.1687T>A (p.Ser563Thr) c.1789T>A (p.Ser597Thr) c.1822T>A (p.Ser608Thr) c.1729T>A (p.Ser577Thr) c.1081T>A (p.Ser361Thr) c.1390T>A (p.Ser464Thr) c.754T>A (p.Ser252Thr) | |
| 3 | g.10359962C>A | CA351781318 | ATP2B2 | c.1686G>T (p.Lys562Asn) c.1788G>T (p.Lys596Asn) c.1821G>T (p.Lys607Asn) c.1728G>T (p.Lys576Asn) c.1080G>T (p.Lys360Asn) c.1389G>T (p.Lys463Asn) c.753G>T (p.Lys251Asn) | |
| 3 | g.10359962C>G | CA351781319 | ATP2B2 | c.1686G>C (p.Lys562Asn) c.1788G>C (p.Lys596Asn) c.1821G>C (p.Lys607Asn) c.1728G>C (p.Lys576Asn) c.1080G>C (p.Lys360Asn) c.1389G>C (p.Lys463Asn) c.753G>C (p.Lys251Asn) | |
| 3 | g.10359962C>T | CA432537854 | ATP2B2 | c.1686G>A (p.Lys562=) c.1788G>A (p.Lys596=) c.1821G>A (p.Lys607=) c.1728G>A (p.Lys576=) c.1080G>A (p.Lys360=) c.1389G>A (p.Lys463=) c.753G>A (p.Lys251=) | |
| 3 | g.10359963T>A | CA351781320 | ATP2B2 | c.1685A>T (p.Lys562Met) c.1787A>T (p.Lys596Met) c.1820A>T (p.Lys607Met) c.1727A>T (p.Lys576Met) c.1079A>T (p.Lys360Met) c.1388A>T (p.Lys463Met) c.752A>T (p.Lys251Met) | |
| 3 | g.10359963T>C | CA351781321 | ATP2B2 | c.1685A>G (p.Lys562Arg) c.1787A>G (p.Lys596Arg) c.1820A>G (p.Lys607Arg) c.1727A>G (p.Lys576Arg) c.1079A>G (p.Lys360Arg) c.1388A>G (p.Lys463Arg) c.752A>G (p.Lys251Arg) | |
| 3 | g.10359963T>G | CA351781322 | ATP2B2 | c.1685A>C (p.Lys562Thr) c.1787A>C (p.Lys596Thr) c.1820A>C (p.Lys607Thr) c.1727A>C (p.Lys576Thr) c.1079A>C (p.Lys360Thr) c.1388A>C (p.Lys463Thr) c.752A>C (p.Lys251Thr) | |
| 3 | g.10359964T>A | CA351781323 | ATP2B2 | c.1684A>T (p.Lys562Ter) c.1786A>T (p.Lys596Ter) c.1819A>T (p.Lys607Ter) c.1726A>T (p.Lys576Ter) c.1078A>T (p.Lys360Ter) c.1387A>T (p.Lys463Ter) c.751A>T (p.Lys251Ter) | |
| 3 | g.10359964T>C | CA351781324 | ATP2B2 | c.1684A>G (p.Lys562Glu) c.1786A>G (p.Lys596Glu) c.1819A>G (p.Lys607Glu) c.1726A>G (p.Lys576Glu) c.1078A>G (p.Lys360Glu) c.1387A>G (p.Lys463Glu) c.751A>G (p.Lys251Glu) | |
| 3 | g.10359964T>G | CA351781325 | ATP2B2 | c.1684A>C (p.Lys562Gln) c.1786A>C (p.Lys596Gln) c.1819A>C (p.Lys607Gln) c.1726A>C (p.Lys576Gln) c.1078A>C (p.Lys360Gln) c.1387A>C (p.Lys463Gln) c.751A>C (p.Lys251Gln) | |
| 3 | g.10359965G>A | CA2253570 | ATP2B2 | c.1683C>T (p.Arg561=) c.1785C>T (p.Arg595=) c.1818C>T (p.Arg606=) c.1725C>T (p.Arg575=) c.1077C>T (p.Arg359=) c.1386C>T (p.Arg462=) c.750C>T (p.Arg250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10359965G>C | CA432537855 | ATP2B2 | c.1683C>G (p.Arg561=) c.1785C>G (p.Arg595=) c.1818C>G (p.Arg606=) c.1725C>G (p.Arg575=) c.1077C>G (p.Arg359=) c.1386C>G (p.Arg462=) c.750C>G (p.Arg250=) | dbSNP |
| 3 | g.10359965G= | CA1345191746 | ATP2B2 | c.1683C= (p.Arg561=) c.1785C= (p.Arg595=) c.1818C= (p.Arg606=) c.1725C= (p.Arg575=) c.1077C= (p.Arg359=) c.1386C= (p.Arg462=) c.750C= (p.Arg250=) | |
| 3 | g.10359965G>T | CA432537856 | ATP2B2 | c.1683C>A (p.Arg561=) c.1785C>A (p.Arg595=) c.1818C>A (p.Arg606=) c.1725C>A (p.Arg575=) c.1077C>A (p.Arg359=) c.1386C>A (p.Arg462=) c.750C>A (p.Arg250=) | |
| 3 | g.10359966C>A | CA351781326 | ATP2B2 | c.1682G>T (p.Arg561Leu) c.1784G>T (p.Arg595Leu) c.1817G>T (p.Arg606Leu) c.1724G>T (p.Arg575Leu) c.1076G>T (p.Arg359Leu) c.1385G>T (p.Arg462Leu) c.749G>T (p.Arg250Leu) | |
| 3 | g.10359966C= | CA1345191753 | ATP2B2 | c.1682G= (p.Arg561=) c.1784G= (p.Arg595=) c.1817G= (p.Arg606=) c.1724G= (p.Arg575=) c.1076G= (p.Arg359=) c.1385G= (p.Arg462=) c.749G= (p.Arg250=) | |
| 3 | g.10359966C>G | CA351781327 | ATP2B2 | c.1682G>C (p.Arg561Pro) c.1784G>C (p.Arg595Pro) c.1817G>C (p.Arg606Pro) c.1724G>C (p.Arg575Pro) c.1076G>C (p.Arg359Pro) c.1385G>C (p.Arg462Pro) c.749G>C (p.Arg250Pro) | |
| 3 | g.10359966C>T | CA2253571 | ATP2B2 | c.1682G>A (p.Arg561His) c.1784G>A (p.Arg595His) c.1817G>A (p.Arg606His) c.1724G>A (p.Arg575His) c.1076G>A (p.Arg359His) c.1385G>A (p.Arg462His) c.749G>A (p.Arg250His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.10359967G>A | CA2253572 | ATP2B2 | c.1681C>T (p.Arg561Cys) c.1783C>T (p.Arg595Cys) c.1816C>T (p.Arg606Cys) c.1723C>T (p.Arg575Cys) c.1075C>T (p.Arg359Cys) c.1384C>T (p.Arg462Cys) c.748C>T (p.Arg250Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.10359967G>C | CA351781328 | ATP2B2 | c.1681C>G (p.Arg561Gly) c.1783C>G (p.Arg595Gly) c.1816C>G (p.Arg606Gly) c.1723C>G (p.Arg575Gly) c.1075C>G (p.Arg359Gly) c.1384C>G (p.Arg462Gly) c.748C>G (p.Arg250Gly) | |
| 3 | g.10359967G= | CA1345191758 | ATP2B2 | c.1681C= (p.Arg561=) c.1783C= (p.Arg595=) c.1816C= (p.Arg606=) c.1723C= (p.Arg575=) c.1075C= (p.Arg359=) c.1384C= (p.Arg462=) c.748C= (p.Arg250=) | |
| 3 | g.10359967G>T | CA351781329 | ATP2B2 | c.1681C>A (p.Arg561Ser) c.1783C>A (p.Arg595Ser) c.1816C>A (p.Arg606Ser) c.1723C>A (p.Arg575Ser) c.1075C>A (p.Arg359Ser) c.1384C>A (p.Arg462Ser) c.748C>A (p.Arg250Ser) | |
| 3 | g.10359968C>A | CA432537857 | ATP2B2 | c.1680G>T (p.Val560=) c.1782G>T (p.Val594=) c.1815G>T (p.Val605=) c.1722G>T (p.Val574=) c.1074G>T (p.Val358=) c.1383G>T (p.Val461=) c.747G>T (p.Val249=) | |
| 3 | g.10359968C= | CA1345191766 | ATP2B2 | c.1680G= (p.Val560=) c.1782G= (p.Val594=) c.1815G= (p.Val605=) c.1722G= (p.Val574=) c.1074G= (p.Val358=) c.1383G= (p.Val461=) c.747G= (p.Val249=) | |
| 3 | g.10359968C>G | CA432537858 | ATP2B2 | c.1680G>C (p.Val560=) c.1782G>C (p.Val594=) c.1815G>C (p.Val605=) c.1722G>C (p.Val574=) c.1074G>C (p.Val358=) c.1383G>C (p.Val461=) c.747G>C (p.Val249=) | |
| 3 | g.10359968C>T | CA2253573 | ATP2B2 | c.1680G>A (p.Val560=) c.1782G>A (p.Val594=) c.1815G>A (p.Val605=) c.1722G>A (p.Val574=) c.1074G>A (p.Val358=) c.1383G>A (p.Val461=) c.747G>A (p.Val249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10359969A>C | CA351781330 | ATP2B2 | c.1679T>G (p.Val560Gly) c.1781T>G (p.Val594Gly) c.1814T>G (p.Val605Gly) c.1721T>G (p.Val574Gly) c.1073T>G (p.Val358Gly) c.1382T>G (p.Val461Gly) c.746T>G (p.Val249Gly) | |
| 3 | g.10359969A>G | CA351781331 | ATP2B2 | c.1679T>C (p.Val560Ala) c.1781T>C (p.Val594Ala) c.1814T>C (p.Val605Ala) c.1721T>C (p.Val574Ala) c.1073T>C (p.Val358Ala) c.1382T>C (p.Val461Ala) c.746T>C (p.Val249Ala) | gnomAD v4 |
| 3 | g.10359969A>T | CA351781332 | ATP2B2 | c.1679T>A (p.Val560Glu) c.1781T>A (p.Val594Glu) c.1814T>A (p.Val605Glu) c.1721T>A (p.Val574Glu) c.1073T>A (p.Val358Glu) c.1382T>A (p.Val461Glu) c.746T>A (p.Val249Glu) | |
| 3 | g.10359970C>A | CA351781333 | ATP2B2 | c.1678G>T (p.Val560Leu) c.1780G>T (p.Val594Leu) c.1813G>T (p.Val605Leu) c.1720G>T (p.Val574Leu) c.1072G>T (p.Val358Leu) c.1381G>T (p.Val461Leu) c.745G>T (p.Val249Leu) | |
| 3 | g.10359970C= | CA1345191770 | ATP2B2 | c.1678G= (p.Val560=) c.1780G= (p.Val594=) c.1813G= (p.Val605=) c.1720G= (p.Val574=) c.1072G= (p.Val358=) c.1381G= (p.Val461=) c.745G= (p.Val249=) | |
| 3 | g.10359970C>G | CA351781334 | ATP2B2 | c.1678G>C (p.Val560Leu) c.1780G>C (p.Val594Leu) c.1813G>C (p.Val605Leu) c.1720G>C (p.Val574Leu) c.1072G>C (p.Val358Leu) c.1381G>C (p.Val461Leu) c.745G>C (p.Val249Leu) | |
| 3 | g.10359970C>T | CA2253574 | ATP2B2 | c.1678G>A (p.Val560Met) c.1780G>A (p.Val594Met) c.1813G>A (p.Val605Met) c.1720G>A (p.Val574Met) c.1072G>A (p.Val358Met) c.1381G>A (p.Val461Met) c.745G>A (p.Val249Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.10359971G>A | CA2253575 | ATP2B2 | c.1677C>T (p.Ser559=) c.1779C>T (p.Ser593=) c.1812C>T (p.Ser604=) c.1719C>T (p.Ser573=) c.1071C>T (p.Ser357=) c.1380C>T (p.Ser460=) c.744C>T (p.Ser248=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359971G>C | CA432537859 | ATP2B2 | c.1677C>G (p.Ser559=) c.1779C>G (p.Ser593=) c.1812C>G (p.Ser604=) c.1719C>G (p.Ser573=) c.1071C>G (p.Ser357=) c.1380C>G (p.Ser460=) c.744C>G (p.Ser248=) | |
| 3 | g.10359971G= | CA1345191775 | ATP2B2 | c.1677C= (p.Ser559=) c.1779C= (p.Ser593=) c.1812C= (p.Ser604=) c.1719C= (p.Ser573=) c.1071C= (p.Ser357=) c.1380C= (p.Ser460=) c.744C= (p.Ser248=) | |
| 3 | g.10359971G>T | CA432537860 | ATP2B2 | c.1677C>A (p.Ser559=) c.1779C>A (p.Ser593=) c.1812C>A (p.Ser604=) c.1719C>A (p.Ser573=) c.1071C>A (p.Ser357=) c.1380C>A (p.Ser460=) c.744C>A (p.Ser248=) | |
| 3 | g.10359971_10359972delinsAA | CA645535564 | ATP2B2 | c.1676_1677delinsTT (p.Ser559Phe) c.1778_1779delinsTT (p.Ser593Phe) c.1811_1812delinsTT (p.Ser604Phe) c.1718_1719delinsTT (p.Ser573Phe) c.1070_1071delinsTT (p.Ser357Phe) c.1379_1380delinsTT (p.Ser460Phe) c.743_744delinsTT (p.Ser248Phe) | COSMIC COSMIC |
| 3 | g.10359972G>A | CA351781335 | ATP2B2 | c.1676C>T (p.Ser559Phe) c.1778C>T (p.Ser593Phe) c.1811C>T (p.Ser604Phe) c.1718C>T (p.Ser573Phe) c.1070C>T (p.Ser357Phe) c.1379C>T (p.Ser460Phe) c.743C>T (p.Ser248Phe) | COSMIC COSMIC |
| 3 | g.10359972G>C | CA351781336 | ATP2B2 | c.1676C>G (p.Ser559Cys) c.1778C>G (p.Ser593Cys) c.1811C>G (p.Ser604Cys) c.1718C>G (p.Ser573Cys) c.1070C>G (p.Ser357Cys) c.1379C>G (p.Ser460Cys) c.743C>G (p.Ser248Cys) | |
| 3 | g.10359972G>T | CA351781337 | ATP2B2 | c.1676C>A (p.Ser559Tyr) c.1778C>A (p.Ser593Tyr) c.1811C>A (p.Ser604Tyr) c.1718C>A (p.Ser573Tyr) c.1070C>A (p.Ser357Tyr) c.1379C>A (p.Ser460Tyr) c.743C>A (p.Ser248Tyr) | |
| 3 | g.10359973A>C | CA351781338 | ATP2B2 | c.1675T>G (p.Ser559Ala) c.1777T>G (p.Ser593Ala) c.1810T>G (p.Ser604Ala) c.1717T>G (p.Ser573Ala) c.1069T>G (p.Ser357Ala) c.1378T>G (p.Ser460Ala) c.742T>G (p.Ser248Ala) | |
| 3 | g.10359973A>G | CA351781340 | ATP2B2 | c.1675T>C (p.Ser559Pro) c.1777T>C (p.Ser593Pro) c.1810T>C (p.Ser604Pro) c.1717T>C (p.Ser573Pro) c.1069T>C (p.Ser357Pro) c.1378T>C (p.Ser460Pro) c.742T>C (p.Ser248Pro) | |
| 3 | g.10359973A>T | CA351781339 | ATP2B2 | c.1675T>A (p.Ser559Thr) c.1777T>A (p.Ser593Thr) c.1810T>A (p.Ser604Thr) c.1717T>A (p.Ser573Thr) c.1069T>A (p.Ser357Thr) c.1378T>A (p.Ser460Thr) c.742T>A (p.Ser248Thr) | |
| 3 | g.10359974G>A | CA432537861 | ATP2B2 | c.1674C>T (p.Asn558=) c.1776C>T (p.Asn592=) c.1809C>T (p.Asn603=) c.1716C>T (p.Asn572=) c.1068C>T (p.Asn356=) c.1377C>T (p.Asn459=) c.741C>T (p.Asn247=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359974G>C | CA351781341 | ATP2B2 | c.1674C>G (p.Asn558Lys) c.1776C>G (p.Asn592Lys) c.1809C>G (p.Asn603Lys) c.1716C>G (p.Asn572Lys) c.1068C>G (p.Asn356Lys) c.1377C>G (p.Asn459Lys) c.741C>G (p.Asn247Lys) | |
| 3 | g.10359974G= | CA1345191781 | ATP2B2 | c.1674C= (p.Asn558=) c.1776C= (p.Asn592=) c.1809C= (p.Asn603=) c.1716C= (p.Asn572=) c.1068C= (p.Asn356=) c.1377C= (p.Asn459=) c.741C= (p.Asn247=) | |
| 3 | g.10359974G>T | CA351781342 | ATP2B2 | c.1674C>A (p.Asn558Lys) c.1776C>A (p.Asn592Lys) c.1809C>A (p.Asn603Lys) c.1716C>A (p.Asn572Lys) c.1068C>A (p.Asn356Lys) c.1377C>A (p.Asn459Lys) c.741C>A (p.Asn247Lys) | gnomAD v4 |
| 3 | g.10359975T>A | CA351781343 | ATP2B2 | c.1673A>T (p.Asn558Ile) c.1775A>T (p.Asn592Ile) c.1808A>T (p.Asn603Ile) c.1715A>T (p.Asn572Ile) c.1067A>T (p.Asn356Ile) c.1376A>T (p.Asn459Ile) c.740A>T (p.Asn247Ile) | |
| 3 | g.10359975T>C | CA351781344 | ATP2B2 | c.1673A>G (p.Asn558Ser) c.1775A>G (p.Asn592Ser) c.1808A>G (p.Asn603Ser) c.1715A>G (p.Asn572Ser) c.1067A>G (p.Asn356Ser) c.1376A>G (p.Asn459Ser) c.740A>G (p.Asn247Ser) | |
| 3 | g.10359975T>G | CA351781345 | ATP2B2 | c.1673A>C (p.Asn558Thr) c.1775A>C (p.Asn592Thr) c.1808A>C (p.Asn603Thr) c.1715A>C (p.Asn572Thr) c.1067A>C (p.Asn356Thr) c.1376A>C (p.Asn459Thr) c.740A>C (p.Asn247Thr) | |
| 3 | g.10359976T>A | CA351781346 | ATP2B2 | c.1672A>T (p.Asn558Tyr) c.1774A>T (p.Asn592Tyr) c.1807A>T (p.Asn603Tyr) c.1714A>T (p.Asn572Tyr) c.1066A>T (p.Asn356Tyr) c.1375A>T (p.Asn459Tyr) c.739A>T (p.Asn247Tyr) | |
| 3 | g.10359976T>C | CA351781347 | ATP2B2 | c.1672A>G (p.Asn558Asp) c.1774A>G (p.Asn592Asp) c.1807A>G (p.Asn603Asp) c.1714A>G (p.Asn572Asp) c.1066A>G (p.Asn356Asp) c.1375A>G (p.Asn459Asp) c.739A>G (p.Asn247Asp) | |
| 3 | g.10359976T>G | CA351781348 | ATP2B2 | c.1672A>C (p.Asn558His) c.1774A>C (p.Asn592His) c.1807A>C (p.Asn603His) c.1714A>C (p.Asn572His) c.1066A>C (p.Asn356His) c.1375A>C (p.Asn459His) c.739A>C (p.Asn247His) | |
| 3 | g.10359977G>A | CA432537862 | ATP2B2 | c.1671C>T (p.Phe557=) c.1773C>T (p.Phe591=) c.1806C>T (p.Phe602=) c.1713C>T (p.Phe571=) c.1065C>T (p.Phe355=) c.1374C>T (p.Phe458=) c.738C>T (p.Phe246=) | |
| 3 | g.10359977G>C | CA351781349 | ATP2B2 | c.1671C>G (p.Phe557Leu) c.1773C>G (p.Phe591Leu) c.1806C>G (p.Phe602Leu) c.1713C>G (p.Phe571Leu) c.1065C>G (p.Phe355Leu) c.1374C>G (p.Phe458Leu) c.738C>G (p.Phe246Leu) | |
| 3 | g.10359977G>T | CA351781350 | ATP2B2 | c.1671C>A (p.Phe557Leu) c.1773C>A (p.Phe591Leu) c.1806C>A (p.Phe602Leu) c.1713C>A (p.Phe571Leu) c.1065C>A (p.Phe355Leu) c.1374C>A (p.Phe458Leu) c.738C>A (p.Phe246Leu) | |
| 3 | g.10359978A>C | CA351781351 | ATP2B2 | c.1670T>G (p.Phe557Cys) c.1772T>G (p.Phe591Cys) c.1805T>G (p.Phe602Cys) c.1712T>G (p.Phe571Cys) c.1064T>G (p.Phe355Cys) c.1373T>G (p.Phe458Cys) c.737T>G (p.Phe246Cys) | |
| 3 | g.10359978A>G | CA351781352 | ATP2B2 | c.1670T>C (p.Phe557Ser) c.1772T>C (p.Phe591Ser) c.1805T>C (p.Phe602Ser) c.1712T>C (p.Phe571Ser) c.1064T>C (p.Phe355Ser) c.1373T>C (p.Phe458Ser) c.737T>C (p.Phe246Ser) | |
| 3 | g.10359978A>T | CA351781353 | ATP2B2 | c.1670T>A (p.Phe557Tyr) c.1772T>A (p.Phe591Tyr) c.1805T>A (p.Phe602Tyr) c.1712T>A (p.Phe571Tyr) c.1064T>A (p.Phe355Tyr) c.1373T>A (p.Phe458Tyr) c.737T>A (p.Phe246Tyr) | |
| 3 | g.10359979A>C | CA351781355 | ATP2B2 | c.1669T>G (p.Phe557Val) c.1771T>G (p.Phe591Val) c.1804T>G (p.Phe602Val) c.1711T>G (p.Phe571Val) c.1063T>G (p.Phe355Val) c.1372T>G (p.Phe458Val) c.736T>G (p.Phe246Val) | |
| 3 | g.10359979A>G | CA351781356 | ATP2B2 | c.1669T>C (p.Phe557Leu) c.1771T>C (p.Phe591Leu) c.1804T>C (p.Phe602Leu) c.1711T>C (p.Phe571Leu) c.1063T>C (p.Phe355Leu) c.1372T>C (p.Phe458Leu) c.736T>C (p.Phe246Leu) | |
| 3 | g.10359979A>T | CA351781354 | ATP2B2 | c.1669T>A (p.Phe557Ile) c.1771T>A (p.Phe591Ile) c.1804T>A (p.Phe602Ile) c.1711T>A (p.Phe571Ile) c.1063T>A (p.Phe355Ile) c.1372T>A (p.Phe458Ile) c.736T>A (p.Phe246Ile) | |
| 3 | g.10359980G>A | CA432537863 | ATP2B2 | c.1668C>T (p.Thr556=) c.1770C>T (p.Thr590=) c.1803C>T (p.Thr601=) c.1710C>T (p.Thr570=) c.1062C>T (p.Thr354=) c.1371C>T (p.Thr457=) c.735C>T (p.Thr245=) | |
| 3 | g.10359980G>C | CA432537864 | ATP2B2 | c.1668C>G (p.Thr556=) c.1770C>G (p.Thr590=) c.1803C>G (p.Thr601=) c.1710C>G (p.Thr570=) c.1062C>G (p.Thr354=) c.1371C>G (p.Thr457=) c.735C>G (p.Thr245=) | |
| 3 | g.10359980G>T | CA432537865 | ATP2B2 | c.1668C>A (p.Thr556=) c.1770C>A (p.Thr590=) c.1803C>A (p.Thr601=) c.1710C>A (p.Thr570=) c.1062C>A (p.Thr354=) c.1371C>A (p.Thr457=) c.735C>A (p.Thr245=) | |
| 3 | g.10359981G>A | CA351781359 | ATP2B2 | c.1667C>T (p.Thr556Ile) c.1769C>T (p.Thr590Ile) c.1802C>T (p.Thr601Ile) c.1709C>T (p.Thr570Ile) c.1061C>T (p.Thr354Ile) c.1370C>T (p.Thr457Ile) c.734C>T (p.Thr245Ile) | |
| 3 | g.10359981G>C | CA351781357 | ATP2B2 | c.1667C>G (p.Thr556Ser) c.1769C>G (p.Thr590Ser) c.1802C>G (p.Thr601Ser) c.1709C>G (p.Thr570Ser) c.1061C>G (p.Thr354Ser) c.1370C>G (p.Thr457Ser) c.734C>G (p.Thr245Ser) | |
| 3 | g.10359981G>T | CA351781358 | ATP2B2 | c.1667C>A (p.Thr556Asn) c.1769C>A (p.Thr590Asn) c.1802C>A (p.Thr601Asn) c.1709C>A (p.Thr570Asn) c.1061C>A (p.Thr354Asn) c.1370C>A (p.Thr457Asn) c.734C>A (p.Thr245Asn) | |
| 3 | g.10359982T>A | CA351781360 | ATP2B2 | c.1666A>T (p.Thr556Ser) c.1768A>T (p.Thr590Ser) c.1801A>T (p.Thr601Ser) c.1708A>T (p.Thr570Ser) c.1060A>T (p.Thr354Ser) c.1369A>T (p.Thr457Ser) c.733A>T (p.Thr245Ser) | COSMIC COSMIC |
| 3 | g.10359982T>C | CA351781361 | ATP2B2 | c.1666A>G (p.Thr556Ala) c.1768A>G (p.Thr590Ala) c.1801A>G (p.Thr601Ala) c.1708A>G (p.Thr570Ala) c.1060A>G (p.Thr354Ala) c.1369A>G (p.Thr457Ala) c.733A>G (p.Thr245Ala) | |
| 3 | g.10359982T>G | CA351781362 | ATP2B2 | c.1666A>C (p.Thr556Pro) c.1768A>C (p.Thr590Pro) c.1801A>C (p.Thr601Pro) c.1708A>C (p.Thr570Pro) c.1060A>C (p.Thr354Pro) c.1369A>C (p.Thr457Pro) c.733A>C (p.Thr245Pro) | |
| 3 | g.10359983G>A | CA432537866 | ATP2B2 | c.1665C>T (p.Tyr555=) c.1767C>T (p.Tyr589=) c.1800C>T (p.Tyr600=) c.1707C>T (p.Tyr569=) c.1059C>T (p.Tyr353=) c.1368C>T (p.Tyr456=) c.732C>T (p.Tyr244=) | gnomAD v4 COSMIC COSMIC |
| 3 | g.10359983G>C | CA351781363 | ATP2B2 | c.1665C>G (p.Tyr555Ter) c.1767C>G (p.Tyr589Ter) c.1800C>G (p.Tyr600Ter) c.1707C>G (p.Tyr569Ter) c.1059C>G (p.Tyr353Ter) c.1368C>G (p.Tyr456Ter) c.732C>G (p.Tyr244Ter) | |
| 3 | g.10359983G>T | CA351781364 | ATP2B2 | c.1665C>A (p.Tyr555Ter) c.1767C>A (p.Tyr589Ter) c.1800C>A (p.Tyr600Ter) c.1707C>A (p.Tyr569Ter) c.1059C>A (p.Tyr353Ter) c.1368C>A (p.Tyr456Ter) c.732C>A (p.Tyr244Ter) | |
| 3 | g.10359984T>A | CA351781365 | ATP2B2 | c.1664A>T (p.Tyr555Phe) c.1766A>T (p.Tyr589Phe) c.1799A>T (p.Tyr600Phe) c.1706A>T (p.Tyr569Phe) c.1058A>T (p.Tyr353Phe) c.1367A>T (p.Tyr456Phe) c.731A>T (p.Tyr244Phe) | |
| 3 | g.10359984T>C | CA351781366 | ATP2B2 | c.1664A>G (p.Tyr555Cys) c.1766A>G (p.Tyr589Cys) c.1799A>G (p.Tyr600Cys) c.1706A>G (p.Tyr569Cys) c.1058A>G (p.Tyr353Cys) c.1367A>G (p.Tyr456Cys) c.731A>G (p.Tyr244Cys) | |
| 3 | g.10359984T>G | CA351781367 | ATP2B2 | c.1664A>C (p.Tyr555Ser) c.1766A>C (p.Tyr589Ser) c.1799A>C (p.Tyr600Ser) c.1706A>C (p.Tyr569Ser) c.1058A>C (p.Tyr353Ser) c.1367A>C (p.Tyr456Ser) c.731A>C (p.Tyr244Ser) | |
| 3 | g.10359985A>C | CA351781368 | ATP2B2 | c.1663T>G (p.Tyr555Asp) c.1765T>G (p.Tyr589Asp) c.1798T>G (p.Tyr600Asp) c.1705T>G (p.Tyr569Asp) c.1057T>G (p.Tyr353Asp) c.1366T>G (p.Tyr456Asp) c.730T>G (p.Tyr244Asp) | |
| 3 | g.10359985A>G | CA351781369 | ATP2B2 | c.1663T>C (p.Tyr555His) c.1765T>C (p.Tyr589His) c.1798T>C (p.Tyr600His) c.1705T>C (p.Tyr569His) c.1057T>C (p.Tyr353His) c.1366T>C (p.Tyr456His) c.730T>C (p.Tyr244His) | |
| 3 | g.10359985A>T | CA351781370 | ATP2B2 | c.1663T>A (p.Tyr555Asn) c.1765T>A (p.Tyr589Asn) c.1798T>A (p.Tyr600Asn) c.1705T>A (p.Tyr569Asn) c.1057T>A (p.Tyr353Asn) c.1366T>A (p.Tyr456Asn) c.730T>A (p.Tyr244Asn) | |
| 3 | g.10359986C>A | CA432537867 | ATP2B2 | c.1662G>T (p.Val554=) c.1764G>T (p.Val588=) c.1797G>T (p.Val599=) c.1704G>T (p.Val568=) c.1056G>T (p.Val352=) c.1365G>T (p.Val455=) c.729G>T (p.Val243=) | |
| 3 | g.10359986C= | CA1345191787 | ATP2B2 | c.1662G= (p.Val554=) c.1764G= (p.Val588=) c.1797G= (p.Val599=) c.1704G= (p.Val568=) c.1056G= (p.Val352=) c.1365G= (p.Val455=) c.729G= (p.Val243=) | |
| 3 | g.10359986C>G | CA432537868 | ATP2B2 | c.1662G>C (p.Val554=) c.1764G>C (p.Val588=) c.1797G>C (p.Val599=) c.1704G>C (p.Val568=) c.1056G>C (p.Val352=) c.1365G>C (p.Val455=) c.729G>C (p.Val243=) | |
| 3 | g.10359986C>T | CA432537869 | ATP2B2 | c.1662G>A (p.Val554=) c.1764G>A (p.Val588=) c.1797G>A (p.Val599=) c.1704G>A (p.Val568=) c.1056G>A (p.Val352=) c.1365G>A (p.Val455=) c.729G>A (p.Val243=) | dbSNP gnomAD v4 |
| 3 | g.10359987A>C | CA351781373 | ATP2B2 | c.1661T>G (p.Val554Gly) c.1763T>G (p.Val588Gly) c.1796T>G (p.Val599Gly) c.1703T>G (p.Val568Gly) c.1055T>G (p.Val352Gly) c.1364T>G (p.Val455Gly) c.728T>G (p.Val243Gly) | |
| 3 | g.10359987A>G | CA351781372 | ATP2B2 | c.1661T>C (p.Val554Ala) c.1763T>C (p.Val588Ala) c.1796T>C (p.Val599Ala) c.1703T>C (p.Val568Ala) c.1055T>C (p.Val352Ala) c.1364T>C (p.Val455Ala) c.728T>C (p.Val243Ala) | gnomAD v4 |
| 3 | g.10359987A>T | CA351781371 | ATP2B2 | c.1661T>A (p.Val554Glu) c.1763T>A (p.Val588Glu) c.1796T>A (p.Val599Glu) c.1703T>A (p.Val568Glu) c.1055T>A (p.Val352Glu) c.1364T>A (p.Val455Glu) c.728T>A (p.Val243Glu) | |
| 3 | g.10359988C>A | CA351781374 | ATP2B2 | c.1660G>T (p.Val554Leu) c.1762G>T (p.Val588Leu) c.1795G>T (p.Val599Leu) c.1702G>T (p.Val568Leu) c.1054G>T (p.Val352Leu) c.1363G>T (p.Val455Leu) c.727G>T (p.Val243Leu) | |
| 3 | g.10359988C= | CA1345191791 | ATP2B2 | c.1660G= (p.Val554=) c.1762G= (p.Val588=) c.1795G= (p.Val599=) c.1702G= (p.Val568=) c.1054G= (p.Val352=) c.1363G= (p.Val455=) c.727G= (p.Val243=) | |
| 3 | g.10359988C>G | CA351781375 | ATP2B2 | c.1660G>C (p.Val554Leu) c.1762G>C (p.Val588Leu) c.1795G>C (p.Val599Leu) c.1702G>C (p.Val568Leu) c.1054G>C (p.Val352Leu) c.1363G>C (p.Val455Leu) c.727G>C (p.Val243Leu) | |
| 3 | g.10359988C>T | CA351781376 | ATP2B2 | c.1660G>A (p.Val554Met) c.1762G>A (p.Val588Met) c.1795G>A (p.Val599Met) c.1702G>A (p.Val568Met) c.1054G>A (p.Val352Met) c.1363G>A (p.Val455Met) c.727G>A (p.Val243Met) | dbSNP gnomAD v4 |
| 3 | g.10359989T>A | CA351781377 | ATP2B2 | c.1659A>T (p.Lys553Asn) c.1761A>T (p.Lys587Asn) c.1794A>T (p.Lys598Asn) c.1701A>T (p.Lys567Asn) c.1053A>T (p.Lys351Asn) c.1362A>T (p.Lys454Asn) c.726A>T (p.Lys242Asn) | gnomAD v4 |
| 3 | g.10359989T>C | CA432537870 | ATP2B2 | c.1659A>G (p.Lys553=) c.1761A>G (p.Lys587=) c.1794A>G (p.Lys598=) c.1701A>G (p.Lys567=) c.1053A>G (p.Lys351=) c.1362A>G (p.Lys454=) c.726A>G (p.Lys242=) | |
| 3 | g.10359989T>G | CA351781378 | ATP2B2 | c.1659A>C (p.Lys553Asn) c.1761A>C (p.Lys587Asn) c.1794A>C (p.Lys598Asn) c.1701A>C (p.Lys567Asn) c.1053A>C (p.Lys351Asn) c.1362A>C (p.Lys454Asn) c.726A>C (p.Lys242Asn) | |
| 3 | g.10359990T>A | CA351781379 | ATP2B2 | c.1658A>T (p.Lys553Ile) c.1760A>T (p.Lys587Ile) c.1793A>T (p.Lys598Ile) c.1700A>T (p.Lys567Ile) c.1052A>T (p.Lys351Ile) c.1361A>T (p.Lys454Ile) c.725A>T (p.Lys242Ile) | |
| 3 | g.10359990T>C | CA351781380 | ATP2B2 | c.1658A>G (p.Lys553Arg) c.1760A>G (p.Lys587Arg) c.1793A>G (p.Lys598Arg) c.1700A>G (p.Lys567Arg) c.1052A>G (p.Lys351Arg) c.1361A>G (p.Lys454Arg) c.725A>G (p.Lys242Arg) | |
| 3 | g.10359990T>G | CA351781381 | ATP2B2 | c.1658A>C (p.Lys553Thr) c.1760A>C (p.Lys587Thr) c.1793A>C (p.Lys598Thr) c.1700A>C (p.Lys567Thr) c.1052A>C (p.Lys351Thr) c.1361A>C (p.Lys454Thr) c.725A>C (p.Lys242Thr) | |
| 3 | g.10359991T>A | CA351781382 | ATP2B2 | c.1657A>T (p.Lys553Ter) c.1759A>T (p.Lys587Ter) c.1792A>T (p.Lys598Ter) c.1699A>T (p.Lys567Ter) c.1051A>T (p.Lys351Ter) c.1360A>T (p.Lys454Ter) c.724A>T (p.Lys242Ter) | |
| 3 | g.10359991T>C | CA351781383 | ATP2B2 | c.1657A>G (p.Lys553Glu) c.1759A>G (p.Lys587Glu) c.1792A>G (p.Lys598Glu) c.1699A>G (p.Lys567Glu) c.1051A>G (p.Lys351Glu) c.1360A>G (p.Lys454Glu) c.724A>G (p.Lys242Glu) | |
| 3 | g.10359991T>G | CA351781384 | ATP2B2 | c.1657A>C (p.Lys553Gln) c.1759A>C (p.Lys587Gln) c.1792A>C (p.Lys598Gln) c.1699A>C (p.Lys567Gln) c.1051A>C (p.Lys351Gln) c.1360A>C (p.Lys454Gln) c.724A>C (p.Lys242Gln) | |
| 3 | g.10359992G>A | CA432537871 | ATP2B2 | c.1656C>T (p.Tyr552=) c.1758C>T (p.Tyr586=) c.1791C>T (p.Tyr597=) c.1698C>T (p.Tyr566=) c.1050C>T (p.Tyr350=) c.1359C>T (p.Tyr453=) c.723C>T (p.Tyr241=) | |
| 3 | g.10359992G>C | CA351781385 | ATP2B2 | c.1656C>G (p.Tyr552Ter) c.1758C>G (p.Tyr586Ter) c.1791C>G (p.Tyr597Ter) c.1698C>G (p.Tyr566Ter) c.1050C>G (p.Tyr350Ter) c.1359C>G (p.Tyr453Ter) c.723C>G (p.Tyr241Ter) | |
| 3 | g.10359992G>T | CA351781386 | ATP2B2 | c.1656C>A (p.Tyr552Ter) c.1758C>A (p.Tyr586Ter) c.1791C>A (p.Tyr597Ter) c.1698C>A (p.Tyr566Ter) c.1050C>A (p.Tyr350Ter) c.1359C>A (p.Tyr453Ter) c.723C>A (p.Tyr241Ter) | |
| 3 | g.10359993T>A | CA351781388 | ATP2B2 | c.1655A>T (p.Tyr552Phe) c.1757A>T (p.Tyr586Phe) c.1790A>T (p.Tyr597Phe) c.1697A>T (p.Tyr566Phe) c.1049A>T (p.Tyr350Phe) c.1358A>T (p.Tyr453Phe) c.722A>T (p.Tyr241Phe) | dbSNP |
| 3 | g.10359993T>C | CA351781389 | ATP2B2 | c.1655A>G (p.Tyr552Cys) c.1757A>G (p.Tyr586Cys) c.1790A>G (p.Tyr597Cys) c.1697A>G (p.Tyr566Cys) c.1049A>G (p.Tyr350Cys) c.1358A>G (p.Tyr453Cys) c.722A>G (p.Tyr241Cys) | gnomAD v4 |
| 3 | g.10359993T>G | CA351781387 | ATP2B2 | c.1655A>C (p.Tyr552Ser) c.1757A>C (p.Tyr586Ser) c.1790A>C (p.Tyr597Ser) c.1697A>C (p.Tyr566Ser) c.1049A>C (p.Tyr350Ser) c.1358A>C (p.Tyr453Ser) c.722A>C (p.Tyr241Ser) | |
| 3 | g.10359993T= | CA1345191795 | ATP2B2 | c.1655A= (p.Tyr552=) c.1757A= (p.Tyr586=) c.1790A= (p.Tyr597=) c.1697A= (p.Tyr566=) c.1049A= (p.Tyr350=) c.1358A= (p.Tyr453=) c.722A= (p.Tyr241=) | |
| 3 | g.10359994A>C | CA351781390 | ATP2B2 | c.1654T>G (p.Tyr552Asp) c.1756T>G (p.Tyr586Asp) c.1789T>G (p.Tyr597Asp) c.1696T>G (p.Tyr566Asp) c.1048T>G (p.Tyr350Asp) c.1357T>G (p.Tyr453Asp) c.721T>G (p.Tyr241Asp) | |
| 3 | g.10359994A>G | CA351781391 | ATP2B2 | c.1654T>C (p.Tyr552His) c.1756T>C (p.Tyr586His) c.1789T>C (p.Tyr597His) c.1696T>C (p.Tyr566His) c.1048T>C (p.Tyr350His) c.1357T>C (p.Tyr453His) c.721T>C (p.Tyr241His) | gnomAD v4 |
| 3 | g.10359994A>T | CA351781392 | ATP2B2 | c.1654T>A (p.Tyr552Asn) c.1756T>A (p.Tyr586Asn) c.1789T>A (p.Tyr597Asn) c.1696T>A (p.Tyr566Asn) c.1048T>A (p.Tyr350Asn) c.1357T>A (p.Tyr453Asn) c.721T>A (p.Tyr241Asn) | |
| 3 | g.10359995C>A | CA351781393 | ATP2B2 | c.1653G>T (p.Leu551Phe) c.1755G>T (p.Leu585Phe) c.1788G>T (p.Leu596Phe) c.1695G>T (p.Leu565Phe) c.1047G>T (p.Leu349Phe) c.1356G>T (p.Leu452Phe) c.720G>T (p.Leu240Phe) | |
| 3 | g.10359995C>G | CA351781394 | ATP2B2 | c.1653G>C (p.Leu551Phe) c.1755G>C (p.Leu585Phe) c.1788G>C (p.Leu596Phe) c.1695G>C (p.Leu565Phe) c.1047G>C (p.Leu349Phe) c.1356G>C (p.Leu452Phe) c.720G>C (p.Leu240Phe) | |
| 3 | g.10359995C>T | CA432537872 | ATP2B2 | c.1653G>A (p.Leu551=) c.1755G>A (p.Leu585=) c.1788G>A (p.Leu596=) c.1695G>A (p.Leu565=) c.1047G>A (p.Leu349=) c.1356G>A (p.Leu452=) c.720G>A (p.Leu240=) | |
| 3 | g.10359995_10359996delinsCA | CA1345191799 | ATP2B2 | c.1652_1653delinsTG (p.Leu551=) c.1754_1755delinsTG (p.Leu585=) c.1787_1788delinsTG (p.Leu596=) c.1694_1695delinsTG (p.Leu565=) c.1046_1047delinsTG (p.Leu349=) c.1355_1356delinsTG (p.Leu452=) c.719_720delinsTG (p.Leu240=) | |
| 3 | g.10359996A>C | CA351781395 | ATP2B2 | c.1652T>G (p.Leu551Trp) c.1754T>G (p.Leu585Trp) c.1787T>G (p.Leu596Trp) c.1694T>G (p.Leu565Trp) c.1046T>G (p.Leu349Trp) c.1355T>G (p.Leu452Trp) c.719T>G (p.Leu240Trp) | |
| 3 | g.10359996A>G | CA351781396 | ATP2B2 | c.1652T>C (p.Leu551Ser) c.1754T>C (p.Leu585Ser) c.1787T>C (p.Leu596Ser) c.1694T>C (p.Leu565Ser) c.1046T>C (p.Leu349Ser) c.1355T>C (p.Leu452Ser) c.719T>C (p.Leu240Ser) | |
| 3 | g.10359996A>T | CA351781397 | ATP2B2 | c.1652T>A (p.Leu551Ter) c.1754T>A (p.Leu585Ter) c.1787T>A (p.Leu596Ter) c.1694T>A (p.Leu565Ter) c.1046T>A (p.Leu349Ter) c.1355T>A (p.Leu452Ter) c.719T>A (p.Leu240Ter) | |
| 3 | g.10359997del | CA541213873 | ATP2B2 | c.1652del (p.Leu551CysfsTer14) c.1754del (p.Leu585CysfsTer14) c.1787del (p.Leu596CysfsTer14) c.1694del (p.Leu565CysfsTer14) c.1046del (p.Leu349CysfsTer14) c.1355del (p.Leu452CysfsTer14) c.719del (p.Leu240CysfsTer14) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10359997A>C | CA351781398 | ATP2B2 | c.1651T>G (p.Leu551Val) c.1753T>G (p.Leu585Val) c.1786T>G (p.Leu596Val) c.1693T>G (p.Leu565Val) c.1045T>G (p.Leu349Val) c.1354T>G (p.Leu452Val) c.718T>G (p.Leu240Val) | gnomAD v4 |
| 3 | g.10359997A>G | CA432537873 | ATP2B2 | c.1651T>C (p.Leu551=) c.1753T>C (p.Leu585=) c.1786T>C (p.Leu596=) c.1693T>C (p.Leu565=) c.1045T>C (p.Leu349=) c.1354T>C (p.Leu452=) c.718T>C (p.Leu240=) | dbSNP |
| 3 | g.10359997A>T | CA351781399 | ATP2B2 | c.1651T>A (p.Leu551Met) c.1753T>A (p.Leu585Met) c.1786T>A (p.Leu596Met) c.1693T>A (p.Leu565Met) c.1045T>A (p.Leu349Met) c.1354T>A (p.Leu452Met) c.718T>A (p.Leu240Met) | |
| 3 | g.10359998C>A | CA351781400 | ATP2B2 | c.1650G>T (p.Lys550Asn) c.1752G>T (p.Lys584Asn) c.1785G>T (p.Lys595Asn) c.1692G>T (p.Lys564Asn) c.1044G>T (p.Lys348Asn) c.1353G>T (p.Lys451Asn) c.717G>T (p.Lys239Asn) | gnomAD v4 |
| 3 | g.10359998C= | CA1345191808 | ATP2B2 | c.1650G= (p.Lys550=) c.1752G= (p.Lys584=) c.1785G= (p.Lys595=) c.1692G= (p.Lys564=) c.1044G= (p.Lys348=) c.1353G= (p.Lys451=) c.717G= (p.Lys239=) | |
| 3 | g.10359998C>G | CA351781401 | ATP2B2 | c.1650G>C (p.Lys550Asn) c.1752G>C (p.Lys584Asn) c.1785G>C (p.Lys595Asn) c.1692G>C (p.Lys564Asn) c.1044G>C (p.Lys348Asn) c.1353G>C (p.Lys451Asn) c.717G>C (p.Lys239Asn) | |
| 3 | g.10359998C>T | CA70099968 | ATP2B2 | c.1650G>A (p.Lys550=) c.1752G>A (p.Lys584=) c.1785G>A (p.Lys595=) c.1692G>A (p.Lys564=) c.1044G>A (p.Lys348=) c.1353G>A (p.Lys451=) c.717G>A (p.Lys239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359999T>A | CA351781402 | ATP2B2 | c.1649A>T (p.Lys550Met) c.1751A>T (p.Lys584Met) c.1784A>T (p.Lys595Met) c.1691A>T (p.Lys564Met) c.1043A>T (p.Lys348Met) c.1352A>T (p.Lys451Met) c.716A>T (p.Lys239Met) | |
| 3 | g.10359999T>C | CA351781404 | ATP2B2 | c.1649A>G (p.Lys550Arg) c.1751A>G (p.Lys584Arg) c.1784A>G (p.Lys595Arg) c.1691A>G (p.Lys564Arg) c.1043A>G (p.Lys348Arg) c.1352A>G (p.Lys451Arg) c.716A>G (p.Lys239Arg) | |
| 3 | g.10359999T>G | CA351781403 | ATP2B2 | c.1649A>C (p.Lys550Thr) c.1751A>C (p.Lys584Thr) c.1784A>C (p.Lys595Thr) c.1691A>C (p.Lys564Thr) c.1043A>C (p.Lys348Thr) c.1352A>C (p.Lys451Thr) c.716A>C (p.Lys239Thr) | |
| 3 | g.10360000T>A | CA351781405 | ATP2B2 | c.1648A>T (p.Lys550Ter) c.1750A>T (p.Lys584Ter) c.1783A>T (p.Lys595Ter) c.1690A>T (p.Lys564Ter) c.1042A>T (p.Lys348Ter) c.1351A>T (p.Lys451Ter) c.715A>T (p.Lys239Ter) | |
| 3 | g.10360000T>C | CA351781406 | ATP2B2 | c.1648A>G (p.Lys550Glu) c.1750A>G (p.Lys584Glu) c.1783A>G (p.Lys595Glu) c.1690A>G (p.Lys564Glu) c.1042A>G (p.Lys348Glu) c.1351A>G (p.Lys451Glu) c.715A>G (p.Lys239Glu) | |
| 3 | g.10360000T>G | CA351781407 | ATP2B2 | c.1648A>C (p.Lys550Gln) c.1750A>C (p.Lys584Gln) c.1783A>C (p.Lys595Gln) c.1690A>C (p.Lys564Gln) c.1042A>C (p.Lys348Gln) c.1351A>C (p.Lys451Gln) c.715A>C (p.Lys239Gln) | |
| 3 | g.10360001C>A | CA351781408 | ATP2B2 | c.1647G>T (p.Glu549Asp) c.1749G>T (p.Glu583Asp) c.1782G>T (p.Glu594Asp) c.1689G>T (p.Glu563Asp) c.1041G>T (p.Glu347Asp) c.1350G>T (p.Glu450Asp) c.714G>T (p.Glu238Asp) | |
| 3 | g.10360001C>G | CA351781409 | ATP2B2 | c.1647G>C (p.Glu549Asp) c.1749G>C (p.Glu583Asp) c.1782G>C (p.Glu594Asp) c.1689G>C (p.Glu563Asp) c.1041G>C (p.Glu347Asp) c.1350G>C (p.Glu450Asp) c.714G>C (p.Glu238Asp) | |
| 3 | g.10360001C>T | CA432537874 | ATP2B2 | c.1647G>A (p.Glu549=) c.1749G>A (p.Glu583=) c.1782G>A (p.Glu594=) c.1689G>A (p.Glu563=) c.1041G>A (p.Glu347=) c.1350G>A (p.Glu450=) c.714G>A (p.Glu238=) | |
| 3 | g.10360002T>A | CA351781410 | ATP2B2 | c.1646A>T (p.Glu549Val) c.1748A>T (p.Glu583Val) c.1781A>T (p.Glu594Val) c.1688A>T (p.Glu563Val) c.1040A>T (p.Glu347Val) c.1349A>T (p.Glu450Val) c.713A>T (p.Glu238Val) | |
| 3 | g.10360002T>C | CA351781411 | ATP2B2 | c.1646A>G (p.Glu549Gly) c.1748A>G (p.Glu583Gly) c.1781A>G (p.Glu594Gly) c.1688A>G (p.Glu563Gly) c.1040A>G (p.Glu347Gly) c.1349A>G (p.Glu450Gly) c.713A>G (p.Glu238Gly) | |
| 3 | g.10360002T>G | CA351781412 | ATP2B2 | c.1646A>C (p.Glu549Ala) c.1748A>C (p.Glu583Ala) c.1781A>C (p.Glu594Ala) c.1688A>C (p.Glu563Ala) c.1040A>C (p.Glu347Ala) c.1349A>C (p.Glu450Ala) c.713A>C (p.Glu238Ala) | |
| 3 | g.10360003C>A | CA351781413 | ATP2B2 | c.1645G>T (p.Glu549Ter) c.1747G>T (p.Glu583Ter) c.1780G>T (p.Glu594Ter) c.1687G>T (p.Glu563Ter) c.1039G>T (p.Glu347Ter) c.1348G>T (p.Glu450Ter) c.712G>T (p.Glu238Ter) | |
| 3 | g.10360003C= | CA1345191811 | ATP2B2 | c.1645G= (p.Glu549=) c.1747G= (p.Glu583=) c.1780G= (p.Glu594=) c.1687G= (p.Glu563=) c.1039G= (p.Glu347=) c.1348G= (p.Glu450=) c.712G= (p.Glu238=) | |
| 3 | g.10360003C>G | CA351781414 | ATP2B2 | c.1645G>C (p.Glu549Gln) c.1747G>C (p.Glu583Gln) c.1780G>C (p.Glu594Gln) c.1687G>C (p.Glu563Gln) c.1039G>C (p.Glu347Gln) c.1348G>C (p.Glu450Gln) c.712G>C (p.Glu238Gln) | |
| 3 | g.10360003C>T | CA351781415 | ATP2B2 | c.1645G>A (p.Glu549Lys) c.1747G>A (p.Glu583Lys) c.1780G>A (p.Glu594Lys) c.1687G>A (p.Glu563Lys) c.1039G>A (p.Glu347Lys) c.1348G>A (p.Glu450Lys) c.712G>A (p.Glu238Lys) | dbSNP |
| 3 | g.10360004C>A | CA351781416 | ATP2B2 | c.1644G>T (p.Glu548Asp) c.1746G>T (p.Glu582Asp) c.1779G>T (p.Glu593Asp) c.1686G>T (p.Glu562Asp) c.1038G>T (p.Glu346Asp) c.1347G>T (p.Glu449Asp) c.711G>T (p.Glu237Asp) | |
| 3 | g.10360004C= | CA1345191814 | ATP2B2 | c.1644G= (p.Glu548=) c.1746G= (p.Glu582=) c.1779G= (p.Glu593=) c.1686G= (p.Glu562=) c.1038G= (p.Glu346=) c.1347G= (p.Glu449=) c.711G= (p.Glu237=) | |
| 3 | g.10360004C>G | CA351781417 | ATP2B2 | c.1644G>C (p.Glu548Asp) c.1746G>C (p.Glu582Asp) c.1779G>C (p.Glu593Asp) c.1686G>C (p.Glu562Asp) c.1038G>C (p.Glu346Asp) c.1347G>C (p.Glu449Asp) c.711G>C (p.Glu237Asp) | |
| 3 | g.10360004C>T | CA2253576 | ATP2B2 | c.1644G>A (p.Glu548=) c.1746G>A (p.Glu582=) c.1779G>A (p.Glu593=) c.1686G>A (p.Glu562=) c.1038G>A (p.Glu346=) c.1347G>A (p.Glu449=) c.711G>A (p.Glu237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10360005T>A | CA351781420 | ATP2B2 | c.1643A>T (p.Glu548Val) c.1745A>T (p.Glu582Val) c.1778A>T (p.Glu593Val) c.1685A>T (p.Glu562Val) c.1037A>T (p.Glu346Val) c.1346A>T (p.Glu449Val) c.710A>T (p.Glu237Val) | |
| 3 | g.10360005T>C | CA351781418 | ATP2B2 | c.1643A>G (p.Glu548Gly) c.1745A>G (p.Glu582Gly) c.1778A>G (p.Glu593Gly) c.1685A>G (p.Glu562Gly) c.1037A>G (p.Glu346Gly) c.1346A>G (p.Glu449Gly) c.710A>G (p.Glu237Gly) | |
| 3 | g.10360005T>G | CA351781419 | ATP2B2 | c.1643A>C (p.Glu548Ala) c.1745A>C (p.Glu582Ala) c.1778A>C (p.Glu593Ala) c.1685A>C (p.Glu562Ala) c.1037A>C (p.Glu346Ala) c.1346A>C (p.Glu449Ala) c.710A>C (p.Glu237Ala) | |
| 3 | g.10360006C>A | CA351781421 | ATP2B2 | c.1642G>T (p.Glu548Ter) c.1744G>T (p.Glu582Ter) c.1777G>T (p.Glu593Ter) c.1684G>T (p.Glu562Ter) c.1036G>T (p.Glu346Ter) c.1345G>T (p.Glu449Ter) c.709G>T (p.Glu237Ter) | |
| 3 | g.10360006C>G | CA351781422 | ATP2B2 | c.1642G>C (p.Glu548Gln) c.1744G>C (p.Glu582Gln) c.1777G>C (p.Glu593Gln) c.1684G>C (p.Glu562Gln) c.1036G>C (p.Glu346Gln) c.1345G>C (p.Glu449Gln) c.709G>C (p.Glu237Gln) | |
| 3 | g.10360006C>T | CA351781423 | ATP2B2 | c.1642G>A (p.Glu548Lys) c.1744G>A (p.Glu582Lys) c.1777G>A (p.Glu593Lys) c.1684G>A (p.Glu562Lys) c.1036G>A (p.Glu346Lys) c.1345G>A (p.Glu449Lys) c.709G>A (p.Glu237Lys) | |
| 3 | g.10360007T>A | CA432537875 | ATP2B2 | c.1641A>T (p.Pro547=) c.1743A>T (p.Pro581=) c.1776A>T (p.Pro592=) c.1683A>T (p.Pro561=) c.1035A>T (p.Pro345=) c.1344A>T (p.Pro448=) c.708A>T (p.Pro236=) | dbSNP |
| 3 | g.10360007T>C | CA432537876 | ATP2B2 | c.1641A>G (p.Pro547=) c.1743A>G (p.Pro581=) c.1776A>G (p.Pro592=) c.1683A>G (p.Pro561=) c.1035A>G (p.Pro345=) c.1344A>G (p.Pro448=) c.708A>G (p.Pro236=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10360007T>G | CA432537877 | ATP2B2 | c.1641A>C (p.Pro547=) c.1743A>C (p.Pro581=) c.1776A>C (p.Pro592=) c.1683A>C (p.Pro561=) c.1035A>C (p.Pro345=) c.1344A>C (p.Pro448=) c.708A>C (p.Pro236=) | |
| 3 | g.10360007T= | CA1345191817 | ATP2B2 | c.1641A= (p.Pro547=) c.1743A= (p.Pro581=) c.1776A= (p.Pro592=) c.1683A= (p.Pro561=) c.1035A= (p.Pro345=) c.1344A= (p.Pro448=) c.708A= (p.Pro236=) | |
| 3 | g.10360008G>A | CA351781426 | ATP2B2 | c.1640C>T (p.Pro547Leu) c.1742C>T (p.Pro581Leu) c.1775C>T (p.Pro592Leu) c.1682C>T (p.Pro561Leu) c.1034C>T (p.Pro345Leu) c.1343C>T (p.Pro448Leu) c.707C>T (p.Pro236Leu) | |
| 3 | g.10360008G>C | CA351781425 | ATP2B2 | c.1640C>G (p.Pro547Arg) c.1742C>G (p.Pro581Arg) c.1775C>G (p.Pro592Arg) c.1682C>G (p.Pro561Arg) c.1034C>G (p.Pro345Arg) c.1343C>G (p.Pro448Arg) c.707C>G (p.Pro236Arg) | |
| 3 | g.10360008G>T | CA351781424 | ATP2B2 | c.1640C>A (p.Pro547Gln) c.1742C>A (p.Pro581Gln) c.1775C>A (p.Pro592Gln) c.1682C>A (p.Pro561Gln) c.1034C>A (p.Pro345Gln) c.1343C>A (p.Pro448Gln) c.707C>A (p.Pro236Gln) | |
| 3 | g.10360009G>A | CA351781427 | ATP2B2 | c.1639C>T (p.Pro547Ser) c.1741C>T (p.Pro581Ser) c.1774C>T (p.Pro592Ser) c.1681C>T (p.Pro561Ser) c.1033C>T (p.Pro345Ser) c.1342C>T (p.Pro448Ser) c.706C>T (p.Pro236Ser) | |
| 3 | g.10360009G>C | CA351781428 | ATP2B2 | c.1639C>G (p.Pro547Ala) c.1741C>G (p.Pro581Ala) c.1774C>G (p.Pro592Ala) c.1681C>G (p.Pro561Ala) c.1033C>G (p.Pro345Ala) c.1342C>G (p.Pro448Ala) c.706C>G (p.Pro236Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10360009G= | CA1345191821 | ATP2B2 | c.1639C= (p.Pro547=) c.1741C= (p.Pro581=) c.1774C= (p.Pro592=) c.1681C= (p.Pro561=) c.1033C= (p.Pro345=) c.1342C= (p.Pro448=) c.706C= (p.Pro236=) | |
| 3 | g.10360009G>T | CA351781429 | ATP2B2 | c.1639C>A (p.Pro547Thr) c.1741C>A (p.Pro581Thr) c.1774C>A (p.Pro592Thr) c.1681C>A (p.Pro561Thr) c.1033C>A (p.Pro345Thr) c.1342C>A (p.Pro448Thr) c.706C>A (p.Pro236Thr) | |
| 3 | g.10360010C>A | CA351781430 | ATP2B2 | c.1638G>T (p.Met546Ile) c.1740G>T (p.Met580Ile) c.1773G>T (p.Met591Ile) c.1680G>T (p.Met560Ile) c.1032G>T (p.Met344Ile) c.1341G>T (p.Met447Ile) c.705G>T (p.Met235Ile) | |
| 3 | g.10360010C>G | CA351781431 | ATP2B2 | c.1638G>C (p.Met546Ile) c.1740G>C (p.Met580Ile) c.1773G>C (p.Met591Ile) c.1680G>C (p.Met560Ile) c.1032G>C (p.Met344Ile) c.1341G>C (p.Met447Ile) c.705G>C (p.Met235Ile) | |
| 3 | g.10360010C>T | CA351781432 | ATP2B2 | c.1638G>A (p.Met546Ile) c.1740G>A (p.Met580Ile) c.1773G>A (p.Met591Ile) c.1680G>A (p.Met560Ile) c.1032G>A (p.Met344Ile) c.1341G>A (p.Met447Ile) c.705G>A (p.Met235Ile) | gnomAD v4 |
| 3 | g.10360011A>C | CA351781433 | ATP2B2 | c.1637T>G (p.Met546Arg) c.1739T>G (p.Met580Arg) c.1772T>G (p.Met591Arg) c.1679T>G (p.Met560Arg) c.1031T>G (p.Met344Arg) c.1340T>G (p.Met447Arg) c.704T>G (p.Met235Arg) | |
| 3 | g.10360011A>G | CA351781435 | ATP2B2 | c.1637T>C (p.Met546Thr) c.1739T>C (p.Met580Thr) c.1772T>C (p.Met591Thr) c.1679T>C (p.Met560Thr) c.1031T>C (p.Met344Thr) c.1340T>C (p.Met447Thr) c.704T>C (p.Met235Thr) | |
| 3 | g.10360011A>T | CA351781434 | ATP2B2 | c.1637T>A (p.Met546Lys) c.1739T>A (p.Met580Lys) c.1772T>A (p.Met591Lys) c.1679T>A (p.Met560Lys) c.1031T>A (p.Met344Lys) c.1340T>A (p.Met447Lys) c.704T>A (p.Met235Lys) | |
| 3 | g.10360012T>A | CA351781436 | ATP2B2 | c.1636A>T (p.Met546Leu) c.1738A>T (p.Met580Leu) c.1771A>T (p.Met591Leu) c.1678A>T (p.Met560Leu) c.1030A>T (p.Met344Leu) c.1339A>T (p.Met447Leu) c.703A>T (p.Met235Leu) | |
| 3 | g.10360012T>C | CA351781437 | ATP2B2 | c.1636A>G (p.Met546Val) c.1738A>G (p.Met580Val) c.1771A>G (p.Met591Val) c.1678A>G (p.Met560Val) c.1030A>G (p.Met344Val) c.1339A>G (p.Met447Val) c.703A>G (p.Met235Val) | gnomAD v4 |
| 3 | g.10360012T>G | CA351781438 | ATP2B2 | c.1636A>C (p.Met546Leu) c.1738A>C (p.Met580Leu) c.1771A>C (p.Met591Leu) c.1678A>C (p.Met560Leu) c.1030A>C (p.Met344Leu) c.1339A>C (p.Met447Leu) c.703A>C (p.Met235Leu) | |
| 3 | g.10360013C>A | CA351781439 | ATP2B2 | c.1635G>T (p.Gln545His) c.1737G>T (p.Gln579His) c.1770G>T (p.Gln590His) c.1677G>T (p.Gln559His) c.1029G>T (p.Gln343His) c.1338G>T (p.Gln446His) c.702G>T (p.Gln234His) | |
| 3 | g.10360013C>G | CA351781440 | ATP2B2 | c.1635G>C (p.Gln545His) c.1737G>C (p.Gln579His) c.1770G>C (p.Gln590His) c.1677G>C (p.Gln559His) c.1029G>C (p.Gln343His) c.1338G>C (p.Gln446His) c.702G>C (p.Gln234His) | gnomAD v4 |
| 3 | g.10360013C>T | CA432537878 | ATP2B2 | c.1635G>A (p.Gln545=) c.1737G>A (p.Gln579=) c.1770G>A (p.Gln590=) c.1677G>A (p.Gln559=) c.1029G>A (p.Gln343=) c.1338G>A (p.Gln446=) c.702G>A (p.Gln234=) | |
| 3 | g.10360014T>A | CA351781441 | ATP2B2 | c.1634A>T (p.Gln545Leu) c.1736A>T (p.Gln579Leu) c.1769A>T (p.Gln590Leu) c.1676A>T (p.Gln559Leu) c.1028A>T (p.Gln343Leu) c.1337A>T (p.Gln446Leu) c.701A>T (p.Gln234Leu) | dbSNP |
| 3 | g.10360014T>C | CA351781442 | ATP2B2 | c.1634A>G (p.Gln545Arg) c.1736A>G (p.Gln579Arg) c.1769A>G (p.Gln590Arg) c.1676A>G (p.Gln559Arg) c.1028A>G (p.Gln343Arg) c.1337A>G (p.Gln446Arg) c.701A>G (p.Gln234Arg) | |
| 3 | g.10360014T>G | CA351781443 | ATP2B2 | c.1634A>C (p.Gln545Pro) c.1736A>C (p.Gln579Pro) c.1769A>C (p.Gln590Pro) c.1676A>C (p.Gln559Pro) c.1028A>C (p.Gln343Pro) c.1337A>C (p.Gln446Pro) c.701A>C (p.Gln234Pro) | |
| 3 | g.10360014T= | CA1345191825 | ATP2B2 | c.1634A= (p.Gln545=) c.1736A= (p.Gln579=) c.1769A= (p.Gln590=) c.1676A= (p.Gln559=) c.1028A= (p.Gln343=) c.1337A= (p.Gln446=) c.701A= (p.Gln234=) | |
| 3 | g.10360015G>A | CA351781444 | ATP2B2 | c.1633C>T (p.Gln545Ter) c.1735C>T (p.Gln579Ter) c.1768C>T (p.Gln590Ter) c.1675C>T (p.Gln559Ter) c.1027C>T (p.Gln343Ter) c.1336C>T (p.Gln446Ter) c.700C>T (p.Gln234Ter) | |
| 3 | g.10360015G>C | CA351781445 | ATP2B2 | c.1633C>G (p.Gln545Glu) c.1735C>G (p.Gln579Glu) c.1768C>G (p.Gln590Glu) c.1675C>G (p.Gln559Glu) c.1027C>G (p.Gln343Glu) c.1336C>G (p.Gln446Glu) c.700C>G (p.Gln234Glu) | |
| 3 | g.10360015G>T | CA351781446 | ATP2B2 | c.1633C>A (p.Gln545Lys) c.1735C>A (p.Gln579Lys) c.1768C>A (p.Gln590Lys) c.1675C>A (p.Gln559Lys) c.1027C>A (p.Gln343Lys) c.1336C>A (p.Gln446Lys) c.700C>A (p.Gln234Lys) | |
| 3 | g.10360015_10360016insA | CA2755201444 | ATP2B2 | c.1632_1633insT (p.Gln545SerfsTer?) c.1734_1735insT (p.Gln579SerfsTer?) c.1767_1768insT (p.Gln590SerfsTer?) c.1674_1675insT (p.Gln559SerfsTer?) c.1026_1027insT (p.Gln343SerfsTer?) c.1335_1336insT (p.Gln446SerfsTer?) c.699_700insT (p.Gln234SerfsTer?) | |
| 3 | g.10360016G>A | CA432537879 | ATP2B2 | c.1632C>T (p.Ser544=) c.1734C>T (p.Ser578=) c.1767C>T (p.Ser589=) c.1674C>T (p.Ser558=) c.1026C>T (p.Ser342=) c.1335C>T (p.Ser445=) c.699C>T (p.Ser233=) | |
| 3 | g.10360016G>C | CA351781448 | ATP2B2 | c.1632C>G (p.Ser544Arg) c.1734C>G (p.Ser578Arg) c.1767C>G (p.Ser589Arg) c.1674C>G (p.Ser558Arg) c.1026C>G (p.Ser342Arg) c.1335C>G (p.Ser445Arg) c.699C>G (p.Ser233Arg) | |
| 3 | g.10360016G>T | CA351781447 | ATP2B2 | c.1632C>A (p.Ser544Arg) c.1734C>A (p.Ser578Arg) c.1767C>A (p.Ser589Arg) c.1674C>A (p.Ser558Arg) c.1026C>A (p.Ser342Arg) c.1335C>A (p.Ser445Arg) c.699C>A (p.Ser233Arg) | |
| 3 | g.10360017C>A | CA351781449 | ATP2B2 | c.1631G>T (p.Ser544Ile) c.1733G>T (p.Ser578Ile) c.1766G>T (p.Ser589Ile) c.1673G>T (p.Ser558Ile) c.1025G>T (p.Ser342Ile) c.1334G>T (p.Ser445Ile) c.698G>T (p.Ser233Ile) | |
| 3 | g.10360017C>G | CA351781450 | ATP2B2 | c.1631G>C (p.Ser544Thr) c.1733G>C (p.Ser578Thr) c.1766G>C (p.Ser589Thr) c.1673G>C (p.Ser558Thr) c.1025G>C (p.Ser342Thr) c.1334G>C (p.Ser445Thr) c.698G>C (p.Ser233Thr) | |
| 3 | g.10360017C>T | CA351781451 | ATP2B2 | c.1631G>A (p.Ser544Asn) c.1733G>A (p.Ser578Asn) c.1766G>A (p.Ser589Asn) c.1673G>A (p.Ser558Asn) c.1025G>A (p.Ser342Asn) c.1334G>A (p.Ser445Asn) c.698G>A (p.Ser233Asn) | |
| 3 | g.10360018del | CA2755201445 | ATP2B2 | c.1630del (p.Ser544AlafsTer21) c.1732del (p.Ser578AlafsTer21) c.1765del (p.Ser589AlafsTer21) c.1672del (p.Ser558AlafsTer21) c.1024del (p.Ser342AlafsTer21) c.1333del (p.Ser445AlafsTer21) c.697del (p.Ser233AlafsTer21) | |
| 3 | g.10360018T>A | CA2253577 | ATP2B2 | c.1630A>T (p.Ser544Cys) c.1732A>T (p.Ser578Cys) c.1765A>T (p.Ser589Cys) c.1672A>T (p.Ser558Cys) c.1024A>T (p.Ser342Cys) c.1333A>T (p.Ser445Cys) c.697A>T (p.Ser233Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10360018T>C | CA351781452 | ATP2B2 | c.1630A>G (p.Ser544Gly) c.1732A>G (p.Ser578Gly) c.1765A>G (p.Ser589Gly) c.1672A>G (p.Ser558Gly) c.1024A>G (p.Ser342Gly) c.1333A>G (p.Ser445Gly) c.697A>G (p.Ser233Gly) | gnomAD v4 |
| 3 | g.10360018T>G | CA351781453 | ATP2B2 | c.1630A>C (p.Ser544Arg) c.1732A>C (p.Ser578Arg) c.1765A>C (p.Ser589Arg) c.1672A>C (p.Ser558Arg) c.1024A>C (p.Ser342Arg) c.1333A>C (p.Ser445Arg) c.697A>C (p.Ser233Arg) | |
| 3 | g.10360018T= | CA1345191828 | ATP2B2 | c.1630A= (p.Ser544=) c.1732A= (p.Ser578=) c.1765A= (p.Ser589=) c.1672A= (p.Ser558=) c.1024A= (p.Ser342=) c.1333A= (p.Ser445=) c.697A= (p.Ser233=) | |
| 3 | g.10360019G>A | CA432537880 | ATP2B2 | c.1629C>T (p.Arg543=) c.1731C>T (p.Arg577=) c.1764C>T (p.Arg588=) c.1671C>T (p.Arg557=) c.1023C>T (p.Arg341=) c.1332C>T (p.Arg444=) c.696C>T (p.Arg232=) | |
| 3 | g.10360019G>C | CA432537881 | ATP2B2 | c.1629C>G (p.Arg543=) c.1731C>G (p.Arg577=) c.1764C>G (p.Arg588=) c.1671C>G (p.Arg557=) c.1023C>G (p.Arg341=) c.1332C>G (p.Arg444=) c.696C>G (p.Arg232=) | |
| 3 | g.10360019G= | CA1345191832 | ATP2B2 | c.1629C= (p.Arg543=) c.1731C= (p.Arg577=) c.1764C= (p.Arg588=) c.1671C= (p.Arg557=) c.1023C= (p.Arg341=) c.1332C= (p.Arg444=) c.696C= (p.Arg232=) | |
| 3 | g.10360019G>T | CA432537882 | ATP2B2 | c.1629C>A (p.Arg543=) c.1731C>A (p.Arg577=) c.1764C>A (p.Arg588=) c.1671C>A (p.Arg557=) c.1023C>A (p.Arg341=) c.1332C>A (p.Arg444=) c.696C>A (p.Arg232=) | dbSNP gnomAD v2 COSMIC COSMIC |
| 3 | g.10360020C>A | CA351781455 | ATP2B2 | c.1628G>T (p.Arg543Leu) c.1730G>T (p.Arg577Leu) c.1763G>T (p.Arg588Leu) c.1670G>T (p.Arg557Leu) c.1022G>T (p.Arg341Leu) c.1331G>T (p.Arg444Leu) c.695G>T (p.Arg232Leu) | |
| 3 | g.10360020C= | CA1345191837 | ATP2B2 | c.1628G= (p.Arg543=) c.1730G= (p.Arg577=) c.1763G= (p.Arg588=) c.1670G= (p.Arg557=) c.1022G= (p.Arg341=) c.1331G= (p.Arg444=) c.695G= (p.Arg232=) | |
| 3 | g.10360020C>G | CA351781454 | ATP2B2 | c.1628G>C (p.Arg543Pro) c.1730G>C (p.Arg577Pro) c.1763G>C (p.Arg588Pro) c.1670G>C (p.Arg557Pro) c.1022G>C (p.Arg341Pro) c.1331G>C (p.Arg444Pro) c.695G>C (p.Arg232Pro) | |
| 3 | g.10360020C>T | CA2253578 | ATP2B2 | c.1628G>A (p.Arg543His) c.1730G>A (p.Arg577His) c.1763G>A (p.Arg588His) c.1670G>A (p.Arg557His) c.1022G>A (p.Arg341His) c.1331G>A (p.Arg444His) c.695G>A (p.Arg232His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10360021G>A | CA351781456 | ATP2B2 | c.1627C>T (p.Arg543Cys) c.1729C>T (p.Arg577Cys) c.1762C>T (p.Arg588Cys) c.1669C>T (p.Arg557Cys) c.1021C>T (p.Arg341Cys) c.1330C>T (p.Arg444Cys) c.694C>T (p.Arg232Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.10360021G>C | CA351781457 | ATP2B2 | c.1627C>G (p.Arg543Gly) c.1729C>G (p.Arg577Gly) c.1762C>G (p.Arg588Gly) c.1669C>G (p.Arg557Gly) c.1021C>G (p.Arg341Gly) c.1330C>G (p.Arg444Gly) c.694C>G (p.Arg232Gly) | |
| 3 | g.10360021G= | CA1345191841 | ATP2B2 | c.1627C= (p.Arg543=) c.1729C= (p.Arg577=) c.1762C= (p.Arg588=) c.1669C= (p.Arg557=) c.1021C= (p.Arg341=) c.1330C= (p.Arg444=) c.694C= (p.Arg232=) | |
| 3 | g.10360021G>T | CA351781458 | ATP2B2 | c.1627C>A (p.Arg543Ser) c.1729C>A (p.Arg577Ser) c.1762C>A (p.Arg588Ser) c.1669C>A (p.Arg557Ser) c.1021C>A (p.Arg341Ser) c.1330C>A (p.Arg444Ser) c.694C>A (p.Arg232Ser) | |
| 3 | g.10360022C>A | CA432537883 | ATP2B2 | c.1626G>T (p.Val542=) c.1728G>T (p.Val576=) c.1761G>T (p.Val587=) c.1668G>T (p.Val556=) c.1020G>T (p.Val340=) c.1329G>T (p.Val443=) c.693G>T (p.Val231=) | |
| 3 | g.10360022C= | CA1345191845 | ATP2B2 | c.1626G= (p.Val542=) c.1728G= (p.Val576=) c.1761G= (p.Val587=) c.1668G= (p.Val556=) c.1020G= (p.Val340=) c.1329G= (p.Val443=) c.693G= (p.Val231=) | |
| 3 | g.10360022C>G | CA432537884 | ATP2B2 | c.1626G>C (p.Val542=) c.1728G>C (p.Val576=) c.1761G>C (p.Val587=) c.1668G>C (p.Val556=) c.1020G>C (p.Val340=) c.1329G>C (p.Val443=) c.693G>C (p.Val231=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10360022C>T | CA432537885 | ATP2B2 | c.1626G>A (p.Val542=) c.1728G>A (p.Val576=) c.1761G>A (p.Val587=) c.1668G>A (p.Val556=) c.1020G>A (p.Val340=) c.1329G>A (p.Val443=) c.693G>A (p.Val231=) | |
| 3 | g.10360023A>C | CA351781459 | ATP2B2 | c.1625T>G (p.Val542Gly) c.1727T>G (p.Val576Gly) c.1760T>G (p.Val587Gly) c.1667T>G (p.Val556Gly) c.1019T>G (p.Val340Gly) c.1328T>G (p.Val443Gly) c.692T>G (p.Val231Gly) | |
| 3 | g.10360023A>G | CA351781460 | ATP2B2 | c.1625T>C (p.Val542Ala) c.1727T>C (p.Val576Ala) c.1760T>C (p.Val587Ala) c.1667T>C (p.Val556Ala) c.1019T>C (p.Val340Ala) c.1328T>C (p.Val443Ala) c.692T>C (p.Val231Ala) | |
| 3 | g.10360023A>T | CA351781461 | ATP2B2 | c.1625T>A (p.Val542Glu) c.1727T>A (p.Val576Glu) c.1760T>A (p.Val587Glu) c.1667T>A (p.Val556Glu) c.1019T>A (p.Val340Glu) c.1328T>A (p.Val443Glu) c.692T>A (p.Val231Glu) | |
| 3 | g.10360024C>A | CA2253580 | ATP2B2 | c.1624G>T (p.Val542Leu) c.1726G>T (p.Val576Leu) c.1759G>T (p.Val587Leu) c.1666G>T (p.Val556Leu) c.1018G>T (p.Val340Leu) c.1327G>T (p.Val443Leu) c.691G>T (p.Val231Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10360024C= | CA1345191847 | ATP2B2 | c.1624G= (p.Val542=) c.1726G= (p.Val576=) c.1759G= (p.Val587=) c.1666G= (p.Val556=) c.1018G= (p.Val340=) c.1327G= (p.Val443=) c.691G= (p.Val231=) | |
| 3 | g.10360024C>G | CA351781462 | ATP2B2 | c.1624G>C (p.Val542Leu) c.1726G>C (p.Val576Leu) c.1759G>C (p.Val587Leu) c.1666G>C (p.Val556Leu) c.1018G>C (p.Val340Leu) c.1327G>C (p.Val443Leu) c.691G>C (p.Val231Leu) | dbSNP |
| 3 | g.10360024C>T | CA2253579 | ATP2B2 | c.1624G>A (p.Val542Met) c.1726G>A (p.Val576Met) c.1759G>A (p.Val587Met) c.1666G>A (p.Val556Met) c.1018G>A (p.Val340Met) c.1327G>A (p.Val443Met) c.691G>A (p.Val231Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10360025G>A | CA2253582 | ATP2B2 | c.1623C>T (p.Pro541=) c.1725C>T (p.Pro575=) c.1758C>T (p.Pro586=) c.1665C>T (p.Pro555=) c.1017C>T (p.Pro339=) c.1326C>T (p.Pro442=) c.690C>T (p.Pro230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10360025G>C | CA2253581 | ATP2B2 | c.1623C>G (p.Pro541=) c.1725C>G (p.Pro575=) c.1758C>G (p.Pro586=) c.1665C>G (p.Pro555=) c.1017C>G (p.Pro339=) c.1326C>G (p.Pro442=) c.690C>G (p.Pro230=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10360025G= | CA1345191852 | ATP2B2 | c.1623C= (p.Pro541=) c.1725C= (p.Pro575=) c.1758C= (p.Pro586=) c.1665C= (p.Pro555=) c.1017C= (p.Pro339=) c.1326C= (p.Pro442=) c.690C= (p.Pro230=) | |
| 3 | g.10360025G>T | CA432537886 | ATP2B2 | c.1623C>A (p.Pro541=) c.1725C>A (p.Pro575=) c.1758C>A (p.Pro586=) c.1665C>A (p.Pro555=) c.1017C>A (p.Pro339=) c.1326C>A (p.Pro442=) c.690C>A (p.Pro230=) | dbSNP gnomAD v4 |
| 3 | g.10360026G>A | CA70100024 | ATP2B2 | c.1622C>T (p.Pro541Leu) c.1724C>T (p.Pro575Leu) c.1757C>T (p.Pro586Leu) c.1664C>T (p.Pro555Leu) c.1016C>T (p.Pro339Leu) c.1325C>T (p.Pro442Leu) c.689C>T (p.Pro230Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10360026G>C | CA351781463 | ATP2B2 | c.1622C>G (p.Pro541Arg) c.1724C>G (p.Pro575Arg) c.1757C>G (p.Pro586Arg) c.1664C>G (p.Pro555Arg) c.1016C>G (p.Pro339Arg) c.1325C>G (p.Pro442Arg) c.689C>G (p.Pro230Arg) | |
| 3 | g.10360026G= | CA1345191856 | ATP2B2 | c.1622C= (p.Pro541=) c.1724C= (p.Pro575=) c.1757C= (p.Pro586=) c.1664C= (p.Pro555=) c.1016C= (p.Pro339=) c.1325C= (p.Pro442=) c.689C= (p.Pro230=) | |
| 3 | g.10360026G>T | CA351781464 | ATP2B2 | c.1622C>A (p.Pro541His) c.1724C>A (p.Pro575His) c.1757C>A (p.Pro586His) c.1664C>A (p.Pro555His) c.1016C>A (p.Pro339His) c.1325C>A (p.Pro442His) c.689C>A (p.Pro230His) | dbSNP |
| 3 | g.10360027G>A | CA351781465 | ATP2B2 | c.1621C>T (p.Pro541Ser) c.1723C>T (p.Pro575Ser) c.1756C>T (p.Pro586Ser) c.1663C>T (p.Pro555Ser) c.1015C>T (p.Pro339Ser) c.1324C>T (p.Pro442Ser) c.688C>T (p.Pro230Ser) | dbSNP |
| 3 | g.10360027G>C | CA351781466 | ATP2B2 | c.1621C>G (p.Pro541Ala) c.1723C>G (p.Pro575Ala) c.1756C>G (p.Pro586Ala) c.1663C>G (p.Pro555Ala) c.1015C>G (p.Pro339Ala) c.1324C>G (p.Pro442Ala) c.688C>G (p.Pro230Ala) | |
| 3 | g.10360027G>T | CA351781467 | ATP2B2 | c.1621C>A (p.Pro541Thr) c.1723C>A (p.Pro575Thr) c.1756C>A (p.Pro586Thr) c.1663C>A (p.Pro555Thr) c.1015C>A (p.Pro339Thr) c.1324C>A (p.Pro442Thr) c.688C>A (p.Pro230Thr) | |
| 3 | g.10360028C>A | CA351781468 | ATP2B2 | c.1620G>T (p.Glu540Asp) c.1722G>T (p.Glu574Asp) c.1755G>T (p.Glu585Asp) c.1662G>T (p.Glu554Asp) c.1014G>T (p.Glu338Asp) c.1323G>T (p.Glu441Asp) c.687G>T (p.Glu229Asp) | dbSNP |
| 3 | g.10360028C= | CA1345191863 | ATP2B2 | c.1620G= (p.Glu540=) c.1722G= (p.Glu574=) c.1755G= (p.Glu585=) c.1662G= (p.Glu554=) c.1014G= (p.Glu338=) c.1323G= (p.Glu441=) c.687G= (p.Glu229=) | |
| 3 | g.10360028C>G | CA351781469 | ATP2B2 | c.1620G>C (p.Glu540Asp) c.1722G>C (p.Glu574Asp) c.1755G>C (p.Glu585Asp) c.1662G>C (p.Glu554Asp) c.1014G>C (p.Glu338Asp) c.1323G>C (p.Glu441Asp) c.687G>C (p.Glu229Asp) | |
| 3 | g.10360028C>T | CA432537887 | ATP2B2 | c.1620G>A (p.Glu540=) c.1722G>A (p.Glu574=) c.1755G>A (p.Glu585=) c.1662G>A (p.Glu554=) c.1014G>A (p.Glu338=) c.1323G>A (p.Glu441=) c.687G>A (p.Glu229=) | gnomAD v4 |
| 3 | g.10360029T>A | CA351781470 | ATP2B2 | c.1619A>T (p.Glu540Val) c.1721A>T (p.Glu574Val) c.1754A>T (p.Glu585Val) c.1661A>T (p.Glu554Val) c.1013A>T (p.Glu338Val) c.1322A>T (p.Glu441Val) c.686A>T (p.Glu229Val) | |
| 3 | g.10360029T>C | CA351781471 | ATP2B2 | c.1619A>G (p.Glu540Gly) c.1721A>G (p.Glu574Gly) c.1754A>G (p.Glu585Gly) c.1661A>G (p.Glu554Gly) c.1013A>G (p.Glu338Gly) c.1322A>G (p.Glu441Gly) c.686A>G (p.Glu229Gly) | |
| 3 | g.10360029T>G | CA351781472 | ATP2B2 | c.1619A>C (p.Glu540Ala) c.1721A>C (p.Glu574Ala) c.1754A>C (p.Glu585Ala) c.1661A>C (p.Glu554Ala) c.1013A>C (p.Glu338Ala) c.1322A>C (p.Glu441Ala) c.686A>C (p.Glu229Ala) | |
| 3 | g.10360030C>A | CA351781473 | ATP2B2 | c.1618G>T (p.Glu540Ter) c.1720G>T (p.Glu574Ter) c.1753G>T (p.Glu585Ter) c.1660G>T (p.Glu554Ter) c.1012G>T (p.Glu338Ter) c.1321G>T (p.Glu441Ter) c.685G>T (p.Glu229Ter) | |
| 3 | g.10360030C= | CA1345191866 | ATP2B2 | c.1618G= (p.Glu540=) c.1720G= (p.Glu574=) c.1753G= (p.Glu585=) c.1660G= (p.Glu554=) c.1012G= (p.Glu338=) c.1321G= (p.Glu441=) c.685G= (p.Glu229=) | |
| 3 | g.10360030C>G | CA351781474 | ATP2B2 | c.1618G>C (p.Glu540Gln) c.1720G>C (p.Glu574Gln) c.1753G>C (p.Glu585Gln) c.1660G>C (p.Glu554Gln) c.1012G>C (p.Glu338Gln) c.1321G>C (p.Glu441Gln) c.685G>C (p.Glu229Gln) | |
| 3 | g.10360030C>T | CA2253583 | ATP2B2 | c.1618G>A (p.Glu540Lys) c.1720G>A (p.Glu574Lys) c.1753G>A (p.Glu585Lys) c.1660G>A (p.Glu554Lys) c.1012G>A (p.Glu338Lys) c.1321G>A (p.Glu441Lys) c.685G>A (p.Glu229Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10360031G>A | CA2253584 | ATP2B2 | c.1617C>T (p.Tyr539=) c.1719C>T (p.Tyr573=) c.1752C>T (p.Tyr584=) c.1659C>T (p.Tyr553=) c.1011C>T (p.Tyr337=) c.1320C>T (p.Tyr440=) c.684C>T (p.Tyr228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10360031G>C | CA351781475 | ATP2B2 | c.1617C>G (p.Tyr539Ter) c.1719C>G (p.Tyr573Ter) c.1752C>G (p.Tyr584Ter) c.1659C>G (p.Tyr553Ter) c.1011C>G (p.Tyr337Ter) c.1320C>G (p.Tyr440Ter) c.684C>G (p.Tyr228Ter) | |
| 3 | g.10360031G= | CA1345191870 | ATP2B2 | c.1617C= (p.Tyr539=) c.1719C= (p.Tyr573=) c.1752C= (p.Tyr584=) c.1659C= (p.Tyr553=) c.1011C= (p.Tyr337=) c.1320C= (p.Tyr440=) c.684C= (p.Tyr228=) | |
| 3 | g.10360031G>T | CA351781476 | ATP2B2 | c.1617C>A (p.Tyr539Ter) c.1719C>A (p.Tyr573Ter) c.1752C>A (p.Tyr584Ter) c.1659C>A (p.Tyr553Ter) c.1011C>A (p.Tyr337Ter) c.1320C>A (p.Tyr440Ter) c.684C>A (p.Tyr228Ter) | |
| 3 | g.10360032T>A | CA351781477 | ATP2B2 | c.1616A>T (p.Tyr539Phe) c.1718A>T (p.Tyr573Phe) c.1751A>T (p.Tyr584Phe) c.1658A>T (p.Tyr553Phe) c.1010A>T (p.Tyr337Phe) c.1319A>T (p.Tyr440Phe) c.683A>T (p.Tyr228Phe) | |
| 3 | g.10360032T>C | CA351781479 | ATP2B2 | c.1616A>G (p.Tyr539Cys) c.1718A>G (p.Tyr573Cys) c.1751A>G (p.Tyr584Cys) c.1658A>G (p.Tyr553Cys) c.1010A>G (p.Tyr337Cys) c.1319A>G (p.Tyr440Cys) c.683A>G (p.Tyr228Cys) | |
| 3 | g.10360032T>G | CA351781478 | ATP2B2 | c.1616A>C (p.Tyr539Ser) c.1718A>C (p.Tyr573Ser) c.1751A>C (p.Tyr584Ser) c.1658A>C (p.Tyr553Ser) c.1010A>C (p.Tyr337Ser) c.1319A>C (p.Tyr440Ser) c.683A>C (p.Tyr228Ser) | |
| 3 | g.10360033A>C | CA351781480 | ATP2B2 | c.1615T>G (p.Tyr539Asp) c.1717T>G (p.Tyr573Asp) c.1750T>G (p.Tyr584Asp) c.1657T>G (p.Tyr553Asp) c.1009T>G (p.Tyr337Asp) c.1318T>G (p.Tyr440Asp) c.682T>G (p.Tyr228Asp) | |
| 3 | g.10360033A>G | CA351781482 | ATP2B2 | c.1615T>C (p.Tyr539His) c.1717T>C (p.Tyr573His) c.1750T>C (p.Tyr584His) c.1657T>C (p.Tyr553His) c.1009T>C (p.Tyr337His) c.1318T>C (p.Tyr440His) c.682T>C (p.Tyr228His) | |
| 3 | g.10360033A>T | CA351781481 | ATP2B2 | c.1615T>A (p.Tyr539Asn) c.1717T>A (p.Tyr573Asn) c.1750T>A (p.Tyr584Asn) c.1657T>A (p.Tyr553Asn) c.1009T>A (p.Tyr337Asn) c.1318T>A (p.Tyr440Asn) c.682T>A (p.Tyr228Asn) | |
| 3 | g.10360034G>A | CA432537888 | ATP2B2 | c.1614C>T (p.Asp538=) c.1716C>T (p.Asp572=) c.1749C>T (p.Asp583=) c.1656C>T (p.Asp552=) c.1008C>T (p.Asp336=) c.1317C>T (p.Asp439=) c.681C>T (p.Asp227=) | |
| 3 | g.10360034G>C | CA351781483 | ATP2B2 | c.1614C>G (p.Asp538Glu) c.1716C>G (p.Asp572Glu) c.1749C>G (p.Asp583Glu) c.1656C>G (p.Asp552Glu) c.1008C>G (p.Asp336Glu) c.1317C>G (p.Asp439Glu) c.681C>G (p.Asp227Glu) | |
| 3 | g.10360034G>T | CA351781484 | ATP2B2 | c.1614C>A (p.Asp538Glu) c.1716C>A (p.Asp572Glu) c.1749C>A (p.Asp583Glu) c.1656C>A (p.Asp552Glu) c.1008C>A (p.Asp336Glu) c.1317C>A (p.Asp439Glu) c.681C>A (p.Asp227Glu) | |
| 3 | g.10360035T>A | CA351781485 | ATP2B2 | c.1613A>T (p.Asp538Val) c.1715A>T (p.Asp572Val) c.1748A>T (p.Asp583Val) c.1655A>T (p.Asp552Val) c.1007A>T (p.Asp336Val) c.1316A>T (p.Asp439Val) c.680A>T (p.Asp227Val) | |
| 3 | g.10360035T>C | CA351781487 | ATP2B2 | c.1613A>G (p.Asp538Gly) c.1715A>G (p.Asp572Gly) c.1748A>G (p.Asp583Gly) c.1655A>G (p.Asp552Gly) c.1007A>G (p.Asp336Gly) c.1316A>G (p.Asp439Gly) c.680A>G (p.Asp227Gly) | ClinVar dbSNP |
| 3 | g.10360035T>G | CA351781486 | ATP2B2 | c.1613A>C (p.Asp538Ala) c.1715A>C (p.Asp572Ala) c.1748A>C (p.Asp583Ala) c.1655A>C (p.Asp552Ala) c.1007A>C (p.Asp336Ala) c.1316A>C (p.Asp439Ala) c.680A>C (p.Asp227Ala) | |
| 3 | g.10360035T= | CA1345191873 | ATP2B2 | c.1613A= (p.Asp538=) c.1715A= (p.Asp572=) c.1748A= (p.Asp583=) c.1655A= (p.Asp552=) c.1007A= (p.Asp336=) c.1316A= (p.Asp439=) c.680A= (p.Asp227=) | |
| 3 | g.10360036C>A | CA351781488 | ATP2B2 | c.1612G>T (p.Asp538Tyr) c.1714G>T (p.Asp572Tyr) c.1747G>T (p.Asp583Tyr) c.1654G>T (p.Asp552Tyr) c.1006G>T (p.Asp336Tyr) c.1315G>T (p.Asp439Tyr) c.679G>T (p.Asp227Tyr) | dbSNP gnomAD v4 |
| 3 | g.10360036C= | CA1345191875 | ATP2B2 | c.1612G= (p.Asp538=) c.1714G= (p.Asp572=) c.1747G= (p.Asp583=) c.1654G= (p.Asp552=) c.1006G= (p.Asp336=) c.1315G= (p.Asp439=) c.679G= (p.Asp227=) | |
| 3 | g.10360036C>G | CA351781490 | ATP2B2 | c.1612G>C (p.Asp538His) c.1714G>C (p.Asp572His) c.1747G>C (p.Asp583His) c.1654G>C (p.Asp552His) c.1006G>C (p.Asp336His) c.1315G>C (p.Asp439His) c.679G>C (p.Asp227His) | |
| 3 | g.10360036C>T | CA351781489 | ATP2B2 | c.1612G>A (p.Asp538Asn) c.1714G>A (p.Asp572Asn) c.1747G>A (p.Asp583Asn) c.1654G>A (p.Asp552Asn) c.1006G>A (p.Asp336Asn) c.1315G>A (p.Asp439Asn) c.679G>A (p.Asp227Asn) | gnomAD v4 |
| 3 | g.10360037C>A | CA351781491 | ATP2B2 | c.1611G>T (p.Gln537His) c.1713G>T (p.Gln571His) c.1746G>T (p.Gln582His) c.1653G>T (p.Gln551His) c.1005G>T (p.Gln335His) c.1314G>T (p.Gln438His) c.678G>T (p.Gln226His) | |
| 3 | g.10360037C>G | CA351781492 | ATP2B2 | c.1611G>C (p.Gln537His) c.1713G>C (p.Gln571His) c.1746G>C (p.Gln582His) c.1653G>C (p.Gln551His) c.1005G>C (p.Gln335His) c.1314G>C (p.Gln438His) c.678G>C (p.Gln226His) | |
| 3 | g.10360037C>T | CA432537889 | ATP2B2 | c.1611G>A (p.Gln537=) c.1713G>A (p.Gln571=) c.1746G>A (p.Gln582=) c.1653G>A (p.Gln551=) c.1005G>A (p.Gln335=) c.1314G>A (p.Gln438=) c.678G>A (p.Gln226=) | |
| 3 | g.10360038T>A | CA351781493 | ATP2B2 | c.1610A>T (p.Gln537Leu) c.1712A>T (p.Gln571Leu) c.1745A>T (p.Gln582Leu) c.1652A>T (p.Gln551Leu) c.1004A>T (p.Gln335Leu) c.1313A>T (p.Gln438Leu) c.677A>T (p.Gln226Leu) | |
| 3 | g.10360038T>C | CA351781494 | ATP2B2 | c.1610A>G (p.Gln537Arg) c.1712A>G (p.Gln571Arg) c.1745A>G (p.Gln582Arg) c.1652A>G (p.Gln551Arg) c.1004A>G (p.Gln335Arg) c.1313A>G (p.Gln438Arg) c.677A>G (p.Gln226Arg) | |
| 3 | g.10360038T>G | CA351781495 | ATP2B2 | c.1610A>C (p.Gln537Pro) c.1712A>C (p.Gln571Pro) c.1745A>C (p.Gln582Pro) c.1652A>C (p.Gln551Pro) c.1004A>C (p.Gln335Pro) c.1313A>C (p.Gln438Pro) c.677A>C (p.Gln226Pro) | |
| 3 | g.10360039G>A | CA351781496 | ATP2B2 | c.1609C>T (p.Gln537Ter) c.1711C>T (p.Gln571Ter) c.1744C>T (p.Gln582Ter) c.1651C>T (p.Gln551Ter) c.1003C>T (p.Gln335Ter) c.1312C>T (p.Gln438Ter) c.676C>T (p.Gln226Ter) | |
| 3 | g.10360039G>C | CA351781497 | ATP2B2 | c.1609C>G (p.Gln537Glu) c.1711C>G (p.Gln571Glu) c.1744C>G (p.Gln582Glu) c.1651C>G (p.Gln551Glu) c.1003C>G (p.Gln335Glu) c.1312C>G (p.Gln438Glu) c.676C>G (p.Gln226Glu) | |
| 3 | g.10360039G>T | CA351781498 | ATP2B2 | c.1609C>A (p.Gln537Lys) c.1711C>A (p.Gln571Lys) c.1744C>A (p.Gln582Lys) c.1651C>A (p.Gln551Lys) c.1003C>A (p.Gln335Lys) c.1312C>A (p.Gln438Lys) c.676C>A (p.Gln226Lys) | COSMIC COSMIC |
| 3 | g.10360040C>A | CA351781499 | ATP2B2 | c.1608G>T (p.Lys536Asn) c.1710G>T (p.Lys570Asn) c.1743G>T (p.Lys581Asn) c.1650G>T (p.Lys550Asn) c.1002G>T (p.Lys334Asn) c.1311G>T (p.Lys437Asn) c.675G>T (p.Lys225Asn) | |
| 3 | g.10360040C>G | CA351781500 | ATP2B2 | c.1608G>C (p.Lys536Asn) c.1710G>C (p.Lys570Asn) c.1743G>C (p.Lys581Asn) c.1650G>C (p.Lys550Asn) c.1002G>C (p.Lys334Asn) c.1311G>C (p.Lys437Asn) c.675G>C (p.Lys225Asn) | |
| 3 | g.10360040C>T | CA432537890 | ATP2B2 | c.1608G>A (p.Lys536=) c.1710G>A (p.Lys570=) c.1743G>A (p.Lys581=) c.1650G>A (p.Lys550=) c.1002G>A (p.Lys334=) c.1311G>A (p.Lys437=) c.675G>A (p.Lys225=) | |
| 3 | g.10360041T>A | CA351781501 | ATP2B2 | c.1607A>T (p.Lys536Met) c.1709A>T (p.Lys570Met) c.1742A>T (p.Lys581Met) c.1649A>T (p.Lys550Met) c.1001A>T (p.Lys334Met) c.1310A>T (p.Lys437Met) c.674A>T (p.Lys225Met) | |
| 3 | g.10360041T>C | CA351781502 | ATP2B2 | c.1607A>G (p.Lys536Arg) c.1709A>G (p.Lys570Arg) c.1742A>G (p.Lys581Arg) c.1649A>G (p.Lys550Arg) c.1001A>G (p.Lys334Arg) c.1310A>G (p.Lys437Arg) c.674A>G (p.Lys225Arg) | |
| 3 | g.10360041T>G | CA351781503 | ATP2B2 | c.1607A>C (p.Lys536Thr) c.1709A>C (p.Lys570Thr) c.1742A>C (p.Lys581Thr) c.1649A>C (p.Lys550Thr) c.1001A>C (p.Lys334Thr) c.1310A>C (p.Lys437Thr) c.674A>C (p.Lys225Thr) | |
| 3 | g.10360042T>A | CA351781506 | ATP2B2 | c.1606A>T (p.Lys536Ter) c.1708A>T (p.Lys570Ter) c.1741A>T (p.Lys581Ter) c.1648A>T (p.Lys550Ter) c.1000A>T (p.Lys334Ter) c.1309A>T (p.Lys437Ter) c.673A>T (p.Lys225Ter) | |
| 3 | g.10360042T>C | CA351781504 | ATP2B2 | c.1606A>G (p.Lys536Glu) c.1708A>G (p.Lys570Glu) c.1741A>G (p.Lys581Glu) c.1648A>G (p.Lys550Glu) c.1000A>G (p.Lys334Glu) c.1309A>G (p.Lys437Glu) c.673A>G (p.Lys225Glu) | |
| 3 | g.10360042T>G | CA351781505 | ATP2B2 | c.1606A>C (p.Lys536Gln) c.1708A>C (p.Lys570Gln) c.1741A>C (p.Lys581Gln) c.1648A>C (p.Lys550Gln) c.1000A>C (p.Lys334Gln) c.1309A>C (p.Lys437Gln) c.673A>C (p.Lys225Gln) | |
| 3 | g.10360043C>A | CA432537891 | ATP2B2 | c.1605G>T (p.Leu535=) c.1707G>T (p.Leu569=) c.1740G>T (p.Leu580=) c.1647G>T (p.Leu549=) c.999G>T (p.Leu333=) c.1308G>T (p.Leu436=) c.672G>T (p.Leu224=) | |
| 3 | g.10360043C= | CA1345191878 | ATP2B2 | c.1605G= (p.Leu535=) c.1707G= (p.Leu569=) c.1740G= (p.Leu580=) c.1647G= (p.Leu549=) c.999G= (p.Leu333=) c.1308G= (p.Leu436=) c.672G= (p.Leu224=) | |
| 3 | g.10360043C>G | CA432537892 | ATP2B2 | c.1605G>C (p.Leu535=) c.1707G>C (p.Leu569=) c.1740G>C (p.Leu580=) c.1647G>C (p.Leu549=) c.999G>C (p.Leu333=) c.1308G>C (p.Leu436=) c.672G>C (p.Leu224=) | |
| 3 | g.10360043C>T | CA2253585 | ATP2B2 | c.1605G>A (p.Leu535=) c.1707G>A (p.Leu569=) c.1740G>A (p.Leu580=) c.1647G>A (p.Leu549=) c.999G>A (p.Leu333=) c.1308G>A (p.Leu436=) c.672G>A (p.Leu224=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10360044A>C | CA351781507 | ATP2B2 | c.1604T>G (p.Leu535Arg) c.1706T>G (p.Leu569Arg) c.1739T>G (p.Leu580Arg) c.1646T>G (p.Leu549Arg) c.998T>G (p.Leu333Arg) c.1307T>G (p.Leu436Arg) c.671T>G (p.Leu224Arg) | |
| 3 | g.10360044A>G | CA351781508 | ATP2B2 | c.1604T>C (p.Leu535Pro) c.1706T>C (p.Leu569Pro) c.1739T>C (p.Leu580Pro) c.1646T>C (p.Leu549Pro) c.998T>C (p.Leu333Pro) c.1307T>C (p.Leu436Pro) c.671T>C (p.Leu224Pro) | |
| 3 | g.10360044A>T | CA351781509 | ATP2B2 | c.1604T>A (p.Leu535Gln) c.1706T>A (p.Leu569Gln) c.1739T>A (p.Leu580Gln) c.1646T>A (p.Leu549Gln) c.998T>A (p.Leu333Gln) c.1307T>A (p.Leu436Gln) c.671T>A (p.Leu224Gln) | |
| 3 | g.10360045G>A | CA432537893 | ATP2B2 | c.1603C>T (p.Leu535=) c.1705C>T (p.Leu569=) c.1738C>T (p.Leu580=) c.1645C>T (p.Leu549=) c.997C>T (p.Leu333=) c.1306C>T (p.Leu436=) c.670C>T (p.Leu224=) | COSMIC COSMIC |
| 3 | g.10360045G>C | CA351781510 | ATP2B2 | c.1603C>G (p.Leu535Val) c.1705C>G (p.Leu569Val) c.1738C>G (p.Leu580Val) c.1645C>G (p.Leu549Val) c.997C>G (p.Leu333Val) c.1306C>G (p.Leu436Val) c.670C>G (p.Leu224Val) | |
| 3 | g.10360045G>T | CA351781511 | ATP2B2 | c.1603C>A (p.Leu535Met) c.1705C>A (p.Leu569Met) c.1738C>A (p.Leu580Met) c.1645C>A (p.Leu549Met) c.997C>A (p.Leu333Met) c.1306C>A (p.Leu436Met) c.670C>A (p.Leu224Met) | gnomAD v4 |
| 3 | g.10360046G>A | CA432537894 | ATP2B2 | c.1602C>T (p.Asp534=) c.1704C>T (p.Asp568=) c.1737C>T (p.Asp579=) c.1644C>T (p.Asp548=) c.996C>T (p.Asp332=) c.1305C>T (p.Asp435=) c.669C>T (p.Asp223=) | |
| 3 | g.10360046G>C | CA351781512 | ATP2B2 | c.1602C>G (p.Asp534Glu) c.1704C>G (p.Asp568Glu) c.1737C>G (p.Asp579Glu) c.1644C>G (p.Asp548Glu) c.996C>G (p.Asp332Glu) c.1305C>G (p.Asp435Glu) c.669C>G (p.Asp223Glu) | |
| 3 | g.10360046G>T | CA351781513 | ATP2B2 | c.1602C>A (p.Asp534Glu) c.1704C>A (p.Asp568Glu) c.1737C>A (p.Asp579Glu) c.1644C>A (p.Asp548Glu) c.996C>A (p.Asp332Glu) c.1305C>A (p.Asp435Glu) c.669C>A (p.Asp223Glu) | |
| 3 | g.10360047T>A | CA351781514 | ATP2B2 | c.1601A>T (p.Asp534Val) c.1703A>T (p.Asp568Val) c.1736A>T (p.Asp579Val) c.1643A>T (p.Asp548Val) c.995A>T (p.Asp332Val) c.1304A>T (p.Asp435Val) c.668A>T (p.Asp223Val) | |
| 3 | g.10360047T>C | CA351781515 | ATP2B2 | c.1601A>G (p.Asp534Gly) c.1703A>G (p.Asp568Gly) c.1736A>G (p.Asp579Gly) c.1643A>G (p.Asp548Gly) c.995A>G (p.Asp332Gly) c.1304A>G (p.Asp435Gly) c.668A>G (p.Asp223Gly) | |
| 3 | g.10360047T>G | CA351781516 | ATP2B2 | c.1601A>C (p.Asp534Ala) c.1703A>C (p.Asp568Ala) c.1736A>C (p.Asp579Ala) c.1643A>C (p.Asp548Ala) c.995A>C (p.Asp332Ala) c.1304A>C (p.Asp435Ala) c.668A>C (p.Asp223Ala) | |
| 3 | g.10360048C>A | CA351781518 | ATP2B2 | c.1600G>T (p.Asp534Tyr) c.1702G>T (p.Asp568Tyr) c.1735G>T (p.Asp579Tyr) c.1642G>T (p.Asp548Tyr) c.994G>T (p.Asp332Tyr) c.1303G>T (p.Asp435Tyr) c.667G>T (p.Asp223Tyr) | |
| 3 | g.10360048C>G | CA351781519 | ATP2B2 | c.1600G>C (p.Asp534His) c.1702G>C (p.Asp568His) c.1735G>C (p.Asp579His) c.1642G>C (p.Asp548His) c.994G>C (p.Asp332His) c.1303G>C (p.Asp435His) c.667G>C (p.Asp223His) | |
| 3 | g.10360048C>T | CA351781517 | ATP2B2 | c.1600G>A (p.Asp534Asn) c.1702G>A (p.Asp568Asn) c.1735G>A (p.Asp579Asn) c.1642G>A (p.Asp548Asn) c.994G>A (p.Asp332Asn) c.1303G>A (p.Asp435Asn) c.667G>A (p.Asp223Asn) | |
| 3 | g.10360048_10360049insTAG | CA2664424729 | ATP2B2 | c.1599_1600insCTA (p.Leu533_Asp534insLeu) c.1701_1702insCTA (p.Leu567_Asp568insLeu) c.1734_1735insCTA (p.Leu578_Asp579insLeu) c.1641_1642insCTA (p.Leu547_Asp548insLeu) c.993_994insCTA (p.Leu331_Asp332insLeu) c.1302_1303insCTA (p.Leu434_Asp435insLeu) c.666_667insCTA (p.Leu222_Asp223insLeu) | gnomAD v4 |
| 3 | g.10360049C>A | CA432537895 | ATP2B2 | c.1599G>T (p.Leu533=) c.1701G>T (p.Leu567=) c.1734G>T (p.Leu578=) c.1641G>T (p.Leu547=) c.993G>T (p.Leu331=) c.1302G>T (p.Leu434=) c.666G>T (p.Leu222=) | |
| 3 | g.10360049C= | CA1345191883 | ATP2B2 | c.1599G= (p.Leu533=) c.1701G= (p.Leu567=) c.1734G= (p.Leu578=) c.1641G= (p.Leu547=) c.993G= (p.Leu331=) c.1302G= (p.Leu434=) c.666G= (p.Leu222=) | |
| 3 | g.10360049C>G | CA432537896 | ATP2B2 | c.1599G>C (p.Leu533=) c.1701G>C (p.Leu567=) c.1734G>C (p.Leu578=) c.1641G>C (p.Leu547=) c.993G>C (p.Leu331=) c.1302G>C (p.Leu434=) c.666G>C (p.Leu222=) | |
| 3 | g.10360049C>T | CA2253586 | ATP2B2 | c.1599G>A (p.Leu533=) c.1701G>A (p.Leu567=) c.1734G>A (p.Leu578=) c.1641G>A (p.Leu547=) c.993G>A (p.Leu331=) c.1302G>A (p.Leu434=) c.666G>A (p.Leu222=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10360050A>C | CA351781520 | ATP2B2 | c.1598T>G (p.Leu533Arg) c.1700T>G (p.Leu567Arg) c.1733T>G (p.Leu578Arg) c.1640T>G (p.Leu547Arg) c.992T>G (p.Leu331Arg) c.1301T>G (p.Leu434Arg) c.665T>G (p.Leu222Arg) | |
| 3 | g.10360050A>G | CA351781521 | ATP2B2 | c.1598T>C (p.Leu533Pro) c.1700T>C (p.Leu567Pro) c.1733T>C (p.Leu578Pro) c.1640T>C (p.Leu547Pro) c.992T>C (p.Leu331Pro) c.1301T>C (p.Leu434Pro) c.665T>C (p.Leu222Pro) | |
| 3 | g.10360050A>T | CA351781522 | ATP2B2 | c.1598T>A (p.Leu533Gln) c.1700T>A (p.Leu567Gln) c.1733T>A (p.Leu578Gln) c.1640T>A (p.Leu547Gln) c.992T>A (p.Leu331Gln) c.1301T>A (p.Leu434Gln) c.665T>A (p.Leu222Gln) | |
| 3 | g.10360051G>A | CA432537897 | ATP2B2 | c.1597C>T (p.Leu533=) c.1699C>T (p.Leu567=) c.1732C>T (p.Leu578=) c.1639C>T (p.Leu547=) c.991C>T (p.Leu331=) c.1300C>T (p.Leu434=) c.664C>T (p.Leu222=) | |
| 3 | g.10360051G>C | CA351781523 | ATP2B2 | c.1597C>G (p.Leu533Val) c.1699C>G (p.Leu567Val) c.1732C>G (p.Leu578Val) c.1639C>G (p.Leu547Val) c.991C>G (p.Leu331Val) c.1300C>G (p.Leu434Val) c.664C>G (p.Leu222Val) | |
| 3 | g.10360051G>T | CA351781524 | ATP2B2 | c.1597C>A (p.Leu533Met) c.1699C>A (p.Leu567Met) c.1732C>A (p.Leu578Met) c.1639C>A (p.Leu547Met) c.991C>A (p.Leu331Met) c.1300C>A (p.Leu434Met) c.664C>A (p.Leu222Met) | |
| 3 | g.10360052C>A | CA432537899 | ATP2B2 | c.1596G>T (p.Val532=) c.1698G>T (p.Val566=) c.1731G>T (p.Val577=) c.1638G>T (p.Val546=) c.990G>T (p.Val330=) c.1299G>T (p.Val433=) c.663G>T (p.Val221=) | |
| 3 | g.10360052C= | CA1345191887 | ATP2B2 | c.1596G= (p.Val532=) c.1698G= (p.Val566=) c.1731G= (p.Val577=) c.1638G= (p.Val546=) c.990G= (p.Val330=) c.1299G= (p.Val433=) c.663G= (p.Val221=) | |
| 3 | g.10360052C>G | CA432537900 | ATP2B2 | c.1596G>C (p.Val532=) c.1698G>C (p.Val566=) c.1731G>C (p.Val577=) c.1638G>C (p.Val546=) c.990G>C (p.Val330=) c.1299G>C (p.Val433=) c.663G>C (p.Val221=) | |
| 3 | g.10360052C>T | CA432537898 | ATP2B2 | c.1596G>A (p.Val532=) c.1698G>A (p.Val566=) c.1731G>A (p.Val577=) c.1638G>A (p.Val546=) c.990G>A (p.Val330=) c.1299G>A (p.Val433=) c.663G>A (p.Val221=) | dbSNP gnomAD v4 |