UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10359877_10359901dup | CA1045019027 | ATP2B2 | c.1747_1766+5dup c.1849_1868+5dup c.1882_1901+5dup c.1789_1808+5dup c.1141_1160+5dup c.1450_1469+5dup c.814_833+5dup | gnomAD v3 gnomAD v4 |
| 3 | g.10359892C>A | CA2253561 | ATP2B2 | c.1756G>T (p.Val586Leu) c.1858G>T (p.Val620Leu) c.1891G>T (p.Val631Leu) c.1798G>T (p.Val600Leu) c.1150G>T (p.Val384Leu) c.1459G>T (p.Val487Leu) c.823G>T (p.Val275Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359892C= | CA1345191661 | ATP2B2 | c.1756G= (p.Val586=) c.1858G= (p.Val620=) c.1891G= (p.Val631=) c.1798G= (p.Val600=) c.1150G= (p.Val384=) c.1459G= (p.Val487=) c.823G= (p.Val275=) | |
| 3 | g.10359892C>G | CA351781157 | ATP2B2 | c.1756G>C (p.Val586Leu) c.1858G>C (p.Val620Leu) c.1891G>C (p.Val631Leu) c.1798G>C (p.Val600Leu) c.1150G>C (p.Val384Leu) c.1459G>C (p.Val487Leu) c.823G>C (p.Val275Leu) | |
| 3 | g.10359892C>T | CA127431 | ATP2B2 | c.1756G>A (p.Val586Met) c.1858G>A (p.Val620Met) c.1891G>A (p.Val631Met) c.1798G>A (p.Val600Met) c.1150G>A (p.Val384Met) c.1459G>A (p.Val487Met) c.823G>A (p.Val275Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359892_10359893insCGA | CA2755201439 | ATP2B2 | c.1755_1756insTCG (p.Ile585_Val586insSer) c.1857_1858insTCG (p.Ile619_Val620insSer) c.1890_1891insTCG (p.Ile630_Val631insSer) c.1797_1798insTCG (p.Ile599_Val600insSer) c.1149_1150insTCG (p.Ile383_Val384insSer) c.1458_1459insTCG (p.Ile486_Val487insSer) c.822_823insTCG (p.Ile274_Val275insSer) | |
| 3 | g.10359893G>A | CA2253562 | ATP2B2 | c.1755C>T (p.Ile585=) c.1857C>T (p.Ile619=) c.1890C>T (p.Ile630=) c.1797C>T (p.Ile599=) c.1149C>T (p.Ile383=) c.1458C>T (p.Ile486=) c.822C>T (p.Ile274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359893G>C | CA351781158 | ATP2B2 | c.1755C>G (p.Ile585Met) c.1857C>G (p.Ile619Met) c.1890C>G (p.Ile630Met) c.1797C>G (p.Ile599Met) c.1149C>G (p.Ile383Met) c.1458C>G (p.Ile486Met) c.822C>G (p.Ile274Met) | |
| 3 | g.10359893G= | CA1345191667 | ATP2B2 | c.1755C= (p.Ile585=) c.1857C= (p.Ile619=) c.1890C= (p.Ile630=) c.1797C= (p.Ile599=) c.1149C= (p.Ile383=) c.1458C= (p.Ile486=) c.822C= (p.Ile274=) | |
| 3 | g.10359893G>T | CA2253563 | ATP2B2 | c.1755C>A (p.Ile585=) c.1857C>A (p.Ile619=) c.1890C>A (p.Ile630=) c.1797C>A (p.Ile599=) c.1149C>A (p.Ile383=) c.1458C>A (p.Ile486=) c.822C>A (p.Ile274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359894A>C | CA351781159 | ATP2B2 | c.1754T>G (p.Ile585Ser) c.1856T>G (p.Ile619Ser) c.1889T>G (p.Ile630Ser) c.1796T>G (p.Ile599Ser) c.1148T>G (p.Ile383Ser) c.1457T>G (p.Ile486Ser) c.821T>G (p.Ile274Ser) | |
| 3 | g.10359894A>G | CA351781160 | ATP2B2 | c.1754T>C (p.Ile585Thr) c.1856T>C (p.Ile619Thr) c.1889T>C (p.Ile630Thr) c.1796T>C (p.Ile599Thr) c.1148T>C (p.Ile383Thr) c.1457T>C (p.Ile486Thr) c.821T>C (p.Ile274Thr) | |
| 3 | g.10359894A>T | CA351781161 | ATP2B2 | c.1754T>A (p.Ile585Asn) c.1856T>A (p.Ile619Asn) c.1889T>A (p.Ile630Asn) c.1796T>A (p.Ile599Asn) c.1148T>A (p.Ile383Asn) c.1457T>A (p.Ile486Asn) c.821T>A (p.Ile274Asn) | |
| 3 | g.10359895T>A | CA351781162 | ATP2B2 | c.1753A>T (p.Ile585Phe) c.1855A>T (p.Ile619Phe) c.1888A>T (p.Ile630Phe) c.1795A>T (p.Ile599Phe) c.1147A>T (p.Ile383Phe) c.1456A>T (p.Ile486Phe) c.820A>T (p.Ile274Phe) | |
| 3 | g.10359895T>C | CA2253564 | ATP2B2 | c.1753A>G (p.Ile585Val) c.1855A>G (p.Ile619Val) c.1888A>G (p.Ile630Val) c.1795A>G (p.Ile599Val) c.1147A>G (p.Ile383Val) c.1456A>G (p.Ile486Val) c.820A>G (p.Ile274Val) | dbSNP ExAC |
| 3 | g.10359895T>G | CA351781163 | ATP2B2 | c.1753A>C (p.Ile585Leu) c.1855A>C (p.Ile619Leu) c.1888A>C (p.Ile630Leu) c.1795A>C (p.Ile599Leu) c.1147A>C (p.Ile383Leu) c.1456A>C (p.Ile486Leu) c.820A>C (p.Ile274Leu) | |
| 3 | g.10359895T= | CA1345191676 | ATP2B2 | c.1753A= (p.Ile585=) c.1855A= (p.Ile619=) c.1888A= (p.Ile630=) c.1795A= (p.Ile599=) c.1147A= (p.Ile383=) c.1456A= (p.Ile486=) c.820A= (p.Ile274=) | |
| 3 | g.10359896C>A | CA351781164 | ATP2B2 | c.1752G>T (p.Glu584Asp) c.1854G>T (p.Glu618Asp) c.1887G>T (p.Glu629Asp) c.1794G>T (p.Glu598Asp) c.1146G>T (p.Glu382Asp) c.1455G>T (p.Glu485Asp) c.819G>T (p.Glu273Asp) | |
| 3 | g.10359896C= | CA1345191680 | ATP2B2 | c.1752G= (p.Glu584=) c.1854G= (p.Glu618=) c.1887G= (p.Glu629=) c.1794G= (p.Glu598=) c.1146G= (p.Glu382=) c.1455G= (p.Glu485=) c.819G= (p.Glu273=) | |
| 3 | g.10359896C>G | CA351781165 | ATP2B2 | c.1752G>C (p.Glu584Asp) c.1854G>C (p.Glu618Asp) c.1887G>C (p.Glu629Asp) c.1794G>C (p.Glu598Asp) c.1146G>C (p.Glu382Asp) c.1455G>C (p.Glu485Asp) c.819G>C (p.Glu273Asp) | |
| 3 | g.10359896C>T | CA432537785 | ATP2B2 | c.1752G>A (p.Glu584=) c.1854G>A (p.Glu618=) c.1887G>A (p.Glu629=) c.1794G>A (p.Glu598=) c.1146G>A (p.Glu382=) c.1455G>A (p.Glu485=) c.819G>A (p.Glu273=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10359897T>A | CA351781166 | ATP2B2 | c.1751A>T (p.Glu584Val) c.1853A>T (p.Glu618Val) c.1886A>T (p.Glu629Val) c.1793A>T (p.Glu598Val) c.1145A>T (p.Glu382Val) c.1454A>T (p.Glu485Val) c.818A>T (p.Glu273Val) | |
| 3 | g.10359897T>C | CA351781167 | ATP2B2 | c.1751A>G (p.Glu584Gly) c.1853A>G (p.Glu618Gly) c.1886A>G (p.Glu629Gly) c.1793A>G (p.Glu598Gly) c.1145A>G (p.Glu382Gly) c.1454A>G (p.Glu485Gly) c.818A>G (p.Glu273Gly) | |
| 3 | g.10359897T>G | CA351781168 | ATP2B2 | c.1751A>C (p.Glu584Ala) c.1853A>C (p.Glu618Ala) c.1886A>C (p.Glu629Ala) c.1793A>C (p.Glu598Ala) c.1145A>C (p.Glu382Ala) c.1454A>C (p.Glu485Ala) c.818A>C (p.Glu273Ala) | |
| 3 | g.10359897_10359898insA | CA2755201440 | ATP2B2 | c.1750_1751insT (p.Glu584ValfsTer?) c.1852_1853insT (p.Glu618ValfsTer?) c.1885_1886insT (p.Glu629ValfsTer?) c.1792_1793insT (p.Glu598ValfsTer?) c.1144_1145insT (p.Glu382ValfsTer?) c.1453_1454insT (p.Glu485ValfsTer?) c.817_818insT (p.Glu273ValfsTer?) | |
| 3 | g.10359898C>A | CA351781169 | ATP2B2 | c.1750G>T (p.Glu584Ter) c.1852G>T (p.Glu618Ter) c.1885G>T (p.Glu629Ter) c.1792G>T (p.Glu598Ter) c.1144G>T (p.Glu382Ter) c.1453G>T (p.Glu485Ter) c.817G>T (p.Glu273Ter) | |
| 3 | g.10359898C>G | CA351781170 | ATP2B2 | c.1750G>C (p.Glu584Gln) c.1852G>C (p.Glu618Gln) c.1885G>C (p.Glu629Gln) c.1792G>C (p.Glu598Gln) c.1144G>C (p.Glu382Gln) c.1453G>C (p.Glu485Gln) c.817G>C (p.Glu273Gln) | |
| 3 | g.10359898C>T | CA351781171 | ATP2B2 | c.1750G>A (p.Glu584Lys) c.1852G>A (p.Glu618Lys) c.1885G>A (p.Glu629Lys) c.1792G>A (p.Glu598Lys) c.1144G>A (p.Glu382Lys) c.1453G>A (p.Glu485Lys) c.817G>A (p.Glu273Lys) | |
| 3 | g.10359899A>C | CA432537787 | ATP2B2 | c.1749T>G (p.Ser583=) c.1851T>G (p.Ser617=) c.1884T>G (p.Ser628=) c.1791T>G (p.Ser597=) c.1143T>G (p.Ser381=) c.1452T>G (p.Ser484=) c.816T>G (p.Ser272=) | |
| 3 | g.10359899A>G | CA432537788 | ATP2B2 | c.1749T>C (p.Ser583=) c.1851T>C (p.Ser617=) c.1884T>C (p.Ser628=) c.1791T>C (p.Ser597=) c.1143T>C (p.Ser381=) c.1452T>C (p.Ser484=) c.816T>C (p.Ser272=) | |
| 3 | g.10359899A>T | CA432537789 | ATP2B2 | c.1749T>A (p.Ser583=) c.1851T>A (p.Ser617=) c.1884T>A (p.Ser628=) c.1791T>A (p.Ser597=) c.1143T>A (p.Ser381=) c.1452T>A (p.Ser484=) c.816T>A (p.Ser272=) | |
| 3 | g.10359900G>A | CA351781172 | ATP2B2 | c.1748C>T (p.Ser583Phe) c.1850C>T (p.Ser617Phe) c.1883C>T (p.Ser628Phe) c.1790C>T (p.Ser597Phe) c.1142C>T (p.Ser381Phe) c.1451C>T (p.Ser484Phe) c.815C>T (p.Ser272Phe) | |
| 3 | g.10359900G>C | CA351781173 | ATP2B2 | c.1748C>G (p.Ser583Cys) c.1850C>G (p.Ser617Cys) c.1883C>G (p.Ser628Cys) c.1790C>G (p.Ser597Cys) c.1142C>G (p.Ser381Cys) c.1451C>G (p.Ser484Cys) c.815C>G (p.Ser272Cys) | gnomAD v4 |
| 3 | g.10359900G>T | CA351781174 | ATP2B2 | c.1748C>A (p.Ser583Tyr) c.1850C>A (p.Ser617Tyr) c.1883C>A (p.Ser628Tyr) c.1790C>A (p.Ser597Tyr) c.1142C>A (p.Ser381Tyr) c.1451C>A (p.Ser484Tyr) c.815C>A (p.Ser272Tyr) | |
| 3 | g.10359900_10359906del | CA2755201441 | ATP2B2 | c.1742_1748del (p.Gly581ValfsTer30) c.1844_1850del (p.Gly615ValfsTer30) c.1877_1883del (p.Gly626ValfsTer30) c.1784_1790del (p.Gly595ValfsTer30) c.1136_1142del (p.Gly379ValfsTer30) c.1445_1451del (p.Gly482ValfsTer30) c.809_815del (p.Gly270ValfsTer30) | |
| 3 | g.10359901A>C | CA351781175 | ATP2B2 | c.1747T>G (p.Ser583Ala) c.1849T>G (p.Ser617Ala) c.1882T>G (p.Ser628Ala) c.1789T>G (p.Ser597Ala) c.1141T>G (p.Ser381Ala) c.1450T>G (p.Ser484Ala) c.814T>G (p.Ser272Ala) | |
| 3 | g.10359901A>G | CA351781176 | ATP2B2 | c.1747T>C (p.Ser583Pro) c.1849T>C (p.Ser617Pro) c.1882T>C (p.Ser628Pro) c.1789T>C (p.Ser597Pro) c.1141T>C (p.Ser381Pro) c.1450T>C (p.Ser484Pro) c.814T>C (p.Ser272Pro) | |
| 3 | g.10359901A>T | CA351781177 | ATP2B2 | c.1747T>A (p.Ser583Thr) c.1849T>A (p.Ser617Thr) c.1882T>A (p.Ser628Thr) c.1789T>A (p.Ser597Thr) c.1141T>A (p.Ser381Thr) c.1450T>A (p.Ser484Thr) c.814T>A (p.Ser272Thr) | |
| 3 | g.10359902A>C | CA432537792 | ATP2B2 | c.1746T>G (p.Ala582=) c.1848T>G (p.Ala616=) c.1881T>G (p.Ala627=) c.1788T>G (p.Ala596=) c.1140T>G (p.Ala380=) c.1449T>G (p.Ala483=) c.813T>G (p.Ala271=) | |
| 3 | g.10359902A>G | CA432537802 | ATP2B2 | c.1746T>C (p.Ala582=) c.1848T>C (p.Ala616=) c.1881T>C (p.Ala627=) c.1788T>C (p.Ala596=) c.1140T>C (p.Ala380=) c.1449T>C (p.Ala483=) c.813T>C (p.Ala271=) | |
| 3 | g.10359902A>T | CA432537804 | ATP2B2 | c.1746T>A (p.Ala582=) c.1848T>A (p.Ala616=) c.1881T>A (p.Ala627=) c.1788T>A (p.Ala596=) c.1140T>A (p.Ala380=) c.1449T>A (p.Ala483=) c.813T>A (p.Ala271=) | |
| 3 | g.10359903G>A | CA351781178 | ATP2B2 | c.1745C>T (p.Ala582Val) c.1847C>T (p.Ala616Val) c.1880C>T (p.Ala627Val) c.1787C>T (p.Ala596Val) c.1139C>T (p.Ala380Val) c.1448C>T (p.Ala483Val) c.812C>T (p.Ala271Val) | |
| 3 | g.10359903G>C | CA351781180 | ATP2B2 | c.1745C>G (p.Ala582Gly) c.1847C>G (p.Ala616Gly) c.1880C>G (p.Ala627Gly) c.1787C>G (p.Ala596Gly) c.1139C>G (p.Ala380Gly) c.1448C>G (p.Ala483Gly) c.812C>G (p.Ala271Gly) | |
| 3 | g.10359903G>T | CA351781179 | ATP2B2 | c.1745C>A (p.Ala582Asp) c.1847C>A (p.Ala616Asp) c.1880C>A (p.Ala627Asp) c.1787C>A (p.Ala596Asp) c.1139C>A (p.Ala380Asp) c.1448C>A (p.Ala483Asp) c.812C>A (p.Ala271Asp) | |
| 3 | g.10359904C>A | CA351781181 | ATP2B2 | c.1744G>T (p.Ala582Ser) c.1846G>T (p.Ala616Ser) c.1879G>T (p.Ala627Ser) c.1786G>T (p.Ala596Ser) c.1138G>T (p.Ala380Ser) c.1447G>T (p.Ala483Ser) c.811G>T (p.Ala271Ser) | |
| 3 | g.10359904C>G | CA351781183 | ATP2B2 | c.1744G>C (p.Ala582Pro) c.1846G>C (p.Ala616Pro) c.1879G>C (p.Ala627Pro) c.1786G>C (p.Ala596Pro) c.1138G>C (p.Ala380Pro) c.1447G>C (p.Ala483Pro) c.811G>C (p.Ala271Pro) | |
| 3 | g.10359904C>T | CA351781182 | ATP2B2 | c.1744G>A (p.Ala582Thr) c.1846G>A (p.Ala616Thr) c.1879G>A (p.Ala627Thr) c.1786G>A (p.Ala596Thr) c.1138G>A (p.Ala380Thr) c.1447G>A (p.Ala483Thr) c.811G>A (p.Ala271Thr) | |
| 3 | g.10359905C>A | CA432537807 | ATP2B2 | c.1743G>T (p.Gly581=) c.1845G>T (p.Gly615=) c.1878G>T (p.Gly626=) c.1785G>T (p.Gly595=) c.1137G>T (p.Gly379=) c.1446G>T (p.Gly482=) c.810G>T (p.Gly270=) | |
| 3 | g.10359905C>G | CA432537808 | ATP2B2 | c.1743G>C (p.Gly581=) c.1845G>C (p.Gly615=) c.1878G>C (p.Gly626=) c.1785G>C (p.Gly595=) c.1137G>C (p.Gly379=) c.1446G>C (p.Gly482=) c.810G>C (p.Gly270=) | |
| 3 | g.10359905C>T | CA432537809 | ATP2B2 | c.1743G>A (p.Gly581=) c.1845G>A (p.Gly615=) c.1878G>A (p.Gly626=) c.1785G>A (p.Gly595=) c.1137G>A (p.Gly379=) c.1446G>A (p.Gly482=) c.810G>A (p.Gly270=) | |
| 3 | g.10359906C>A | CA351781184 | ATP2B2 | c.1742G>T (p.Gly581Val) c.1844G>T (p.Gly615Val) c.1877G>T (p.Gly626Val) c.1784G>T (p.Gly595Val) c.1136G>T (p.Gly379Val) c.1445G>T (p.Gly482Val) c.809G>T (p.Gly270Val) | |
| 3 | g.10359906C>G | CA351781185 | ATP2B2 | c.1742G>C (p.Gly581Ala) c.1844G>C (p.Gly615Ala) c.1877G>C (p.Gly626Ala) c.1784G>C (p.Gly595Ala) c.1136G>C (p.Gly379Ala) c.1445G>C (p.Gly482Ala) c.809G>C (p.Gly270Ala) | |
| 3 | g.10359906C>T | CA351781186 | ATP2B2 | c.1742G>A (p.Gly581Glu) c.1844G>A (p.Gly615Glu) c.1877G>A (p.Gly626Glu) c.1784G>A (p.Gly595Glu) c.1136G>A (p.Gly379Glu) c.1445G>A (p.Gly482Glu) c.809G>A (p.Gly270Glu) | |
| 3 | g.10359907C>A | CA351781187 | ATP2B2 | c.1741G>T (p.Gly581Trp) c.1843G>T (p.Gly615Trp) c.1876G>T (p.Gly626Trp) c.1783G>T (p.Gly595Trp) c.1135G>T (p.Gly379Trp) c.1444G>T (p.Gly482Trp) c.808G>T (p.Gly270Trp) | |
| 3 | g.10359907C>G | CA351781188 | ATP2B2 | c.1741G>C (p.Gly581Arg) c.1843G>C (p.Gly615Arg) c.1876G>C (p.Gly626Arg) c.1783G>C (p.Gly595Arg) c.1135G>C (p.Gly379Arg) c.1444G>C (p.Gly482Arg) c.808G>C (p.Gly270Arg) | |
| 3 | g.10359907C>T | CA351781189 | ATP2B2 | c.1741G>A (p.Gly581Arg) c.1843G>A (p.Gly615Arg) c.1876G>A (p.Gly626Arg) c.1783G>A (p.Gly595Arg) c.1135G>A (p.Gly379Arg) c.1444G>A (p.Gly482Arg) c.808G>A (p.Gly270Arg) | COSMIC COSMIC |
| 3 | g.10359907_10359908insAT | CA2755201442 | ATP2B2 | c.1740_1741insAT (p.Gly581MetfsTer?) c.1842_1843insAT (p.Gly615MetfsTer?) c.1875_1876insAT (p.Gly626MetfsTer?) c.1782_1783insAT (p.Gly595MetfsTer?) c.1134_1135insAT (p.Gly379MetfsTer?) c.1443_1444insAT (p.Gly482MetfsTer?) c.807_808insAT (p.Gly270MetfsTer?) | |
| 3 | g.10359908C>A | CA351781190 | ATP2B2 | c.1740G>T (p.Lys580Asn) c.1842G>T (p.Lys614Asn) c.1875G>T (p.Lys625Asn) c.1782G>T (p.Lys594Asn) c.1134G>T (p.Lys378Asn) c.1443G>T (p.Lys481Asn) c.807G>T (p.Lys269Asn) | |
| 3 | g.10359908C>G | CA351781191 | ATP2B2 | c.1740G>C (p.Lys580Asn) c.1842G>C (p.Lys614Asn) c.1875G>C (p.Lys625Asn) c.1782G>C (p.Lys594Asn) c.1134G>C (p.Lys378Asn) c.1443G>C (p.Lys481Asn) c.807G>C (p.Lys269Asn) | |
| 3 | g.10359908C>T | CA432537813 | ATP2B2 | c.1740G>A (p.Lys580=) c.1842G>A (p.Lys614=) c.1875G>A (p.Lys625=) c.1782G>A (p.Lys594=) c.1134G>A (p.Lys378=) c.1443G>A (p.Lys481=) c.807G>A (p.Lys269=) | |
| 3 | g.10359909T>A | CA351781192 | ATP2B2 | c.1739A>T (p.Lys580Met) c.1841A>T (p.Lys614Met) c.1874A>T (p.Lys625Met) c.1781A>T (p.Lys594Met) c.1133A>T (p.Lys378Met) c.1442A>T (p.Lys481Met) c.806A>T (p.Lys269Met) | |
| 3 | g.10359909T>C | CA351781193 | ATP2B2 | c.1739A>G (p.Lys580Arg) c.1841A>G (p.Lys614Arg) c.1874A>G (p.Lys625Arg) c.1781A>G (p.Lys594Arg) c.1133A>G (p.Lys378Arg) c.1442A>G (p.Lys481Arg) c.806A>G (p.Lys269Arg) | |
| 3 | g.10359909T>G | CA351781194 | ATP2B2 | c.1739A>C (p.Lys580Thr) c.1841A>C (p.Lys614Thr) c.1874A>C (p.Lys625Thr) c.1781A>C (p.Lys594Thr) c.1133A>C (p.Lys378Thr) c.1442A>C (p.Lys481Thr) c.806A>C (p.Lys269Thr) | |
| 3 | g.10359910T>A | CA351781197 | ATP2B2 | c.1738A>T (p.Lys580Ter) c.1840A>T (p.Lys614Ter) c.1873A>T (p.Lys625Ter) c.1780A>T (p.Lys594Ter) c.1132A>T (p.Lys378Ter) c.1441A>T (p.Lys481Ter) c.805A>T (p.Lys269Ter) | |
| 3 | g.10359910T>C | CA351781195 | ATP2B2 | c.1738A>G (p.Lys580Glu) c.1840A>G (p.Lys614Glu) c.1873A>G (p.Lys625Glu) c.1780A>G (p.Lys594Glu) c.1132A>G (p.Lys378Glu) c.1441A>G (p.Lys481Glu) c.805A>G (p.Lys269Glu) | |
| 3 | g.10359910T>G | CA351781196 | ATP2B2 | c.1738A>C (p.Lys580Gln) c.1840A>C (p.Lys614Gln) c.1873A>C (p.Lys625Gln) c.1780A>C (p.Lys594Gln) c.1132A>C (p.Lys378Gln) c.1441A>C (p.Lys481Gln) c.805A>C (p.Lys269Gln) | |
| 3 | g.10359911G>A | CA432537814 | ATP2B2 | c.1737C>T (p.Ser579=) c.1839C>T (p.Ser613=) c.1872C>T (p.Ser624=) c.1779C>T (p.Ser593=) c.1131C>T (p.Ser377=) c.1440C>T (p.Ser480=) c.804C>T (p.Ser268=) | |
| 3 | g.10359911G>C | CA351781198 | ATP2B2 | c.1737C>G (p.Ser579Arg) c.1839C>G (p.Ser613Arg) c.1872C>G (p.Ser624Arg) c.1779C>G (p.Ser593Arg) c.1131C>G (p.Ser377Arg) c.1440C>G (p.Ser480Arg) c.804C>G (p.Ser268Arg) | gnomAD v4 |
| 3 | g.10359911G>T | CA351781199 | ATP2B2 | c.1737C>A (p.Ser579Arg) c.1839C>A (p.Ser613Arg) c.1872C>A (p.Ser624Arg) c.1779C>A (p.Ser593Arg) c.1131C>A (p.Ser377Arg) c.1440C>A (p.Ser480Arg) c.804C>A (p.Ser268Arg) | |
| 3 | g.10359911_10359926del | CA2755201443 | ATP2B2 | c.1722_1737del (p.Ser574ArgfsTer?) c.1824_1839del (p.Ser608ArgfsTer?) c.1857_1872del (p.Ser619ArgfsTer?) c.1764_1779del (p.Ser588ArgfsTer?) c.1116_1131del (p.Ser372ArgfsTer?) c.1425_1440del (p.Ser475ArgfsTer?) c.789_804del (p.Ser263ArgfsTer?) | |
| 3 | g.10359912C>A | CA351781200 | ATP2B2 | c.1736G>T (p.Ser579Ile) c.1838G>T (p.Ser613Ile) c.1871G>T (p.Ser624Ile) c.1778G>T (p.Ser593Ile) c.1130G>T (p.Ser377Ile) c.1439G>T (p.Ser480Ile) c.803G>T (p.Ser268Ile) | |
| 3 | g.10359912C= | CA1345191686 | ATP2B2 | c.1736G= (p.Ser579=) c.1838G= (p.Ser613=) c.1871G= (p.Ser624=) c.1778G= (p.Ser593=) c.1130G= (p.Ser377=) c.1439G= (p.Ser480=) c.803G= (p.Ser268=) | |
| 3 | g.10359912C>G | CA351781201 | ATP2B2 | c.1736G>C (p.Ser579Thr) c.1838G>C (p.Ser613Thr) c.1871G>C (p.Ser624Thr) c.1778G>C (p.Ser593Thr) c.1130G>C (p.Ser377Thr) c.1439G>C (p.Ser480Thr) c.803G>C (p.Ser268Thr) | |
| 3 | g.10359912C>T | CA70099868 | ATP2B2 | c.1736G>A (p.Ser579Asn) c.1838G>A (p.Ser613Asn) c.1871G>A (p.Ser624Asn) c.1778G>A (p.Ser593Asn) c.1130G>A (p.Ser377Asn) c.1439G>A (p.Ser480Asn) c.803G>A (p.Ser268Asn) | dbSNP |
| 3 | g.10359913T>A | CA351781202 | ATP2B2 | c.1735A>T (p.Ser579Cys) c.1837A>T (p.Ser613Cys) c.1870A>T (p.Ser624Cys) c.1777A>T (p.Ser593Cys) c.1129A>T (p.Ser377Cys) c.1438A>T (p.Ser480Cys) c.802A>T (p.Ser268Cys) | |
| 3 | g.10359913T>C | CA351781203 | ATP2B2 | c.1735A>G (p.Ser579Gly) c.1837A>G (p.Ser613Gly) c.1870A>G (p.Ser624Gly) c.1777A>G (p.Ser593Gly) c.1129A>G (p.Ser377Gly) c.1438A>G (p.Ser480Gly) c.802A>G (p.Ser268Gly) | |
| 3 | g.10359913T>G | CA351781204 | ATP2B2 | c.1735A>C (p.Ser579Arg) c.1837A>C (p.Ser613Arg) c.1870A>C (p.Ser624Arg) c.1777A>C (p.Ser593Arg) c.1129A>C (p.Ser377Arg) c.1438A>C (p.Ser480Arg) c.802A>C (p.Ser268Arg) | |
| 3 | g.10359914G>A | CA432537817 | ATP2B2 | c.1734C>T (p.Tyr578=) c.1836C>T (p.Tyr612=) c.1869C>T (p.Tyr623=) c.1776C>T (p.Tyr592=) c.1128C>T (p.Tyr376=) c.1437C>T (p.Tyr479=) c.801C>T (p.Tyr267=) | gnomAD v4 |
| 3 | g.10359914G>C | CA351781205 | ATP2B2 | c.1734C>G (p.Tyr578Ter) c.1836C>G (p.Tyr612Ter) c.1869C>G (p.Tyr623Ter) c.1776C>G (p.Tyr592Ter) c.1128C>G (p.Tyr376Ter) c.1437C>G (p.Tyr479Ter) c.801C>G (p.Tyr267Ter) | |
| 3 | g.10359914G>T | CA351781206 | ATP2B2 | c.1734C>A (p.Tyr578Ter) c.1836C>A (p.Tyr612Ter) c.1869C>A (p.Tyr623Ter) c.1776C>A (p.Tyr592Ter) c.1128C>A (p.Tyr376Ter) c.1437C>A (p.Tyr479Ter) c.801C>A (p.Tyr267Ter) | |
| 3 | g.10359915T>A | CA351781208 | ATP2B2 | c.1733A>T (p.Tyr578Phe) c.1835A>T (p.Tyr612Phe) c.1868A>T (p.Tyr623Phe) c.1775A>T (p.Tyr592Phe) c.1127A>T (p.Tyr376Phe) c.1436A>T (p.Tyr479Phe) c.800A>T (p.Tyr267Phe) | gnomAD v4 |
| 3 | g.10359915T>C | CA351781209 | ATP2B2 | c.1733A>G (p.Tyr578Cys) c.1835A>G (p.Tyr612Cys) c.1868A>G (p.Tyr623Cys) c.1775A>G (p.Tyr592Cys) c.1127A>G (p.Tyr376Cys) c.1436A>G (p.Tyr479Cys) c.800A>G (p.Tyr267Cys) | |
| 3 | g.10359915T>G | CA351781207 | ATP2B2 | c.1733A>C (p.Tyr578Ser) c.1835A>C (p.Tyr612Ser) c.1868A>C (p.Tyr623Ser) c.1775A>C (p.Tyr592Ser) c.1127A>C (p.Tyr376Ser) c.1436A>C (p.Tyr479Ser) c.800A>C (p.Tyr267Ser) | |
| 3 | g.10359916A>C | CA351781210 | ATP2B2 | c.1732T>G (p.Tyr578Asp) c.1834T>G (p.Tyr612Asp) c.1867T>G (p.Tyr623Asp) c.1774T>G (p.Tyr592Asp) c.1126T>G (p.Tyr376Asp) c.1435T>G (p.Tyr479Asp) c.799T>G (p.Tyr267Asp) | |
| 3 | g.10359916A>G | CA351781211 | ATP2B2 | c.1732T>C (p.Tyr578His) c.1834T>C (p.Tyr612His) c.1867T>C (p.Tyr623His) c.1774T>C (p.Tyr592His) c.1126T>C (p.Tyr376His) c.1435T>C (p.Tyr479His) c.799T>C (p.Tyr267His) | |
| 3 | g.10359916A>T | CA351781212 | ATP2B2 | c.1732T>A (p.Tyr578Asn) c.1834T>A (p.Tyr612Asn) c.1867T>A (p.Tyr623Asn) c.1774T>A (p.Tyr592Asn) c.1126T>A (p.Tyr376Asn) c.1435T>A (p.Tyr479Asn) c.799T>A (p.Tyr267Asn) | |
| 3 | g.10359917C>A | CA351781213 | ATP2B2 | c.1731G>T (p.Met577Ile) c.1833G>T (p.Met611Ile) c.1866G>T (p.Met622Ile) c.1773G>T (p.Met591Ile) c.1125G>T (p.Met375Ile) c.1434G>T (p.Met478Ile) c.798G>T (p.Met266Ile) | ClinVar |
| 3 | g.10359917C>G | CA351781214 | ATP2B2 | c.1731G>C (p.Met577Ile) c.1833G>C (p.Met611Ile) c.1866G>C (p.Met622Ile) c.1773G>C (p.Met591Ile) c.1125G>C (p.Met375Ile) c.1434G>C (p.Met478Ile) c.798G>C (p.Met266Ile) | |
| 3 | g.10359917C>T | CA351781215 | ATP2B2 | c.1731G>A (p.Met577Ile) c.1833G>A (p.Met611Ile) c.1866G>A (p.Met622Ile) c.1773G>A (p.Met591Ile) c.1125G>A (p.Met375Ile) c.1434G>A (p.Met478Ile) c.798G>A (p.Met266Ile) | |
| 3 | g.10359918A>C | CA351781216 | ATP2B2 | c.1730T>G (p.Met577Arg) c.1832T>G (p.Met611Arg) c.1865T>G (p.Met622Arg) c.1772T>G (p.Met591Arg) c.1124T>G (p.Met375Arg) c.1433T>G (p.Met478Arg) c.797T>G (p.Met266Arg) | |
| 3 | g.10359918A>G | CA351781217 | ATP2B2 | c.1730T>C (p.Met577Thr) c.1832T>C (p.Met611Thr) c.1865T>C (p.Met622Thr) c.1772T>C (p.Met591Thr) c.1124T>C (p.Met375Thr) c.1433T>C (p.Met478Thr) c.797T>C (p.Met266Thr) | |
| 3 | g.10359918A>T | CA351781218 | ATP2B2 | c.1730T>A (p.Met577Lys) c.1832T>A (p.Met611Lys) c.1865T>A (p.Met622Lys) c.1772T>A (p.Met591Lys) c.1124T>A (p.Met375Lys) c.1433T>A (p.Met478Lys) c.797T>A (p.Met266Lys) | |
| 3 | g.10359919T>A | CA351781219 | ATP2B2 | c.1729A>T (p.Met577Leu) c.1831A>T (p.Met611Leu) c.1864A>T (p.Met622Leu) c.1771A>T (p.Met591Leu) c.1123A>T (p.Met375Leu) c.1432A>T (p.Met478Leu) c.796A>T (p.Met266Leu) | |
| 3 | g.10359919T>C | CA351781220 | ATP2B2 | c.1729A>G (p.Met577Val) c.1831A>G (p.Met611Val) c.1864A>G (p.Met622Val) c.1771A>G (p.Met591Val) c.1123A>G (p.Met375Val) c.1432A>G (p.Met478Val) c.796A>G (p.Met266Val) | ClinVar gnomAD v4 |
| 3 | g.10359919T>G | CA351781221 | ATP2B2 | c.1729A>C (p.Met577Leu) c.1831A>C (p.Met611Leu) c.1864A>C (p.Met622Leu) c.1771A>C (p.Met591Leu) c.1123A>C (p.Met375Leu) c.1432A>C (p.Met478Leu) c.796A>C (p.Met266Leu) | |
| 3 | g.10359920G>A | CA432537818 | ATP2B2 | c.1728C>T (p.Arg576=) c.1830C>T (p.Arg610=) c.1863C>T (p.Arg621=) c.1770C>T (p.Arg590=) c.1122C>T (p.Arg374=) c.1431C>T (p.Arg477=) c.795C>T (p.Arg265=) | |
| 3 | g.10359920G>C | CA432537819 | ATP2B2 | c.1728C>G (p.Arg576=) c.1830C>G (p.Arg610=) c.1863C>G (p.Arg621=) c.1770C>G (p.Arg590=) c.1122C>G (p.Arg374=) c.1431C>G (p.Arg477=) c.795C>G (p.Arg265=) | |
| 3 | g.10359920G>T | CA432537820 | ATP2B2 | c.1728C>A (p.Arg576=) c.1830C>A (p.Arg610=) c.1863C>A (p.Arg621=) c.1770C>A (p.Arg590=) c.1122C>A (p.Arg374=) c.1431C>A (p.Arg477=) c.795C>A (p.Arg265=) | |
| 3 | g.10359921C>A | CA351781223 | ATP2B2 | c.1727G>T (p.Arg576Leu) c.1829G>T (p.Arg610Leu) c.1862G>T (p.Arg621Leu) c.1769G>T (p.Arg590Leu) c.1121G>T (p.Arg374Leu) c.1430G>T (p.Arg477Leu) c.794G>T (p.Arg265Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10359921C= | CA1345191690 | ATP2B2 | c.1727G= (p.Arg576=) c.1829G= (p.Arg610=) c.1862G= (p.Arg621=) c.1769G= (p.Arg590=) c.1121G= (p.Arg374=) c.1430G= (p.Arg477=) c.794G= (p.Arg265=) | |
| 3 | g.10359921C>G | CA351781224 | ATP2B2 | c.1727G>C (p.Arg576Pro) c.1829G>C (p.Arg610Pro) c.1862G>C (p.Arg621Pro) c.1769G>C (p.Arg590Pro) c.1121G>C (p.Arg374Pro) c.1430G>C (p.Arg477Pro) c.794G>C (p.Arg265Pro) | |
| 3 | g.10359921C>T | CA351781222 | ATP2B2 | c.1727G>A (p.Arg576His) c.1829G>A (p.Arg610His) c.1862G>A (p.Arg621His) c.1769G>A (p.Arg590His) c.1121G>A (p.Arg374His) c.1430G>A (p.Arg477His) c.794G>A (p.Arg265His) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.10359922G>A | CA2253565 | ATP2B2 | c.1726C>T (p.Arg576Cys) c.1828C>T (p.Arg610Cys) c.1861C>T (p.Arg621Cys) c.1768C>T (p.Arg590Cys) c.1120C>T (p.Arg374Cys) c.1429C>T (p.Arg477Cys) c.793C>T (p.Arg265Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.10359922G>C | CA351781225 | ATP2B2 | c.1726C>G (p.Arg576Gly) c.1828C>G (p.Arg610Gly) c.1861C>G (p.Arg621Gly) c.1768C>G (p.Arg590Gly) c.1120C>G (p.Arg374Gly) c.1429C>G (p.Arg477Gly) c.793C>G (p.Arg265Gly) | gnomAD v4 |
| 3 | g.10359922G= | CA1345191694 | ATP2B2 | c.1726C= (p.Arg576=) c.1828C= (p.Arg610=) c.1861C= (p.Arg621=) c.1768C= (p.Arg590=) c.1120C= (p.Arg374=) c.1429C= (p.Arg477=) c.793C= (p.Arg265=) | |
| 3 | g.10359922G>T | CA351781226 | ATP2B2 | c.1726C>A (p.Arg576Ser) c.1828C>A (p.Arg610Ser) c.1861C>A (p.Arg621Ser) c.1768C>A (p.Arg590Ser) c.1120C>A (p.Arg374Ser) c.1429C>A (p.Arg477Ser) c.793C>A (p.Arg265Ser) | |
| 3 | g.10359923G>A | CA432537822 | ATP2B2 | c.1725C>T (p.Phe575=) c.1827C>T (p.Phe609=) c.1860C>T (p.Phe620=) c.1767C>T (p.Phe589=) c.1119C>T (p.Phe373=) c.1428C>T (p.Phe476=) c.792C>T (p.Phe264=) | gnomAD v4 |
| 3 | g.10359923G>C | CA351781227 | ATP2B2 | c.1725C>G (p.Phe575Leu) c.1827C>G (p.Phe609Leu) c.1860C>G (p.Phe620Leu) c.1767C>G (p.Phe589Leu) c.1119C>G (p.Phe373Leu) c.1428C>G (p.Phe476Leu) c.792C>G (p.Phe264Leu) | |
| 3 | g.10359923G>T | CA351781228 | ATP2B2 | c.1725C>A (p.Phe575Leu) c.1827C>A (p.Phe609Leu) c.1860C>A (p.Phe620Leu) c.1767C>A (p.Phe589Leu) c.1119C>A (p.Phe373Leu) c.1428C>A (p.Phe476Leu) c.792C>A (p.Phe264Leu) | |
| 3 | g.10359924A>C | CA351781231 | ATP2B2 | c.1724T>G (p.Phe575Cys) c.1826T>G (p.Phe609Cys) c.1859T>G (p.Phe620Cys) c.1766T>G (p.Phe589Cys) c.1118T>G (p.Phe373Cys) c.1427T>G (p.Phe476Cys) c.791T>G (p.Phe264Cys) | |
| 3 | g.10359924A>G | CA351781229 | ATP2B2 | c.1724T>C (p.Phe575Ser) c.1826T>C (p.Phe609Ser) c.1859T>C (p.Phe620Ser) c.1766T>C (p.Phe589Ser) c.1118T>C (p.Phe373Ser) c.1427T>C (p.Phe476Ser) c.791T>C (p.Phe264Ser) | |
| 3 | g.10359924A>T | CA351781230 | ATP2B2 | c.1724T>A (p.Phe575Tyr) c.1826T>A (p.Phe609Tyr) c.1859T>A (p.Phe620Tyr) c.1766T>A (p.Phe589Tyr) c.1118T>A (p.Phe373Tyr) c.1427T>A (p.Phe476Tyr) c.791T>A (p.Phe264Tyr) | |
| 3 | g.10359925A>C | CA351781232 | ATP2B2 | c.1723T>G (p.Phe575Val) c.1825T>G (p.Phe609Val) c.1858T>G (p.Phe620Val) c.1765T>G (p.Phe589Val) c.1117T>G (p.Phe373Val) c.1426T>G (p.Phe476Val) c.790T>G (p.Phe264Val) | |
| 3 | g.10359925A>G | CA351781233 | ATP2B2 | c.1723T>C (p.Phe575Leu) c.1825T>C (p.Phe609Leu) c.1858T>C (p.Phe620Leu) c.1765T>C (p.Phe589Leu) c.1117T>C (p.Phe373Leu) c.1426T>C (p.Phe476Leu) c.790T>C (p.Phe264Leu) | |
| 3 | g.10359925A>T | CA351781234 | ATP2B2 | c.1723T>A (p.Phe575Ile) c.1825T>A (p.Phe609Ile) c.1858T>A (p.Phe620Ile) c.1765T>A (p.Phe589Ile) c.1117T>A (p.Phe373Ile) c.1426T>A (p.Phe476Ile) c.790T>A (p.Phe264Ile) | |
| 3 | g.10359926G>A | CA432537824 | ATP2B2 | c.1722C>T (p.Ser574=) c.1824C>T (p.Ser608=) c.1857C>T (p.Ser619=) c.1764C>T (p.Ser588=) c.1116C>T (p.Ser372=) c.1425C>T (p.Ser475=) c.789C>T (p.Ser263=) | |
| 3 | g.10359926G>C | CA351781235 | ATP2B2 | c.1722C>G (p.Ser574Arg) c.1824C>G (p.Ser608Arg) c.1857C>G (p.Ser619Arg) c.1764C>G (p.Ser588Arg) c.1116C>G (p.Ser372Arg) c.1425C>G (p.Ser475Arg) c.789C>G (p.Ser263Arg) | |
| 3 | g.10359926G>T | CA351781236 | ATP2B2 | c.1722C>A (p.Ser574Arg) c.1824C>A (p.Ser608Arg) c.1857C>A (p.Ser619Arg) c.1764C>A (p.Ser588Arg) c.1116C>A (p.Ser372Arg) c.1425C>A (p.Ser475Arg) c.789C>A (p.Ser263Arg) | |
| 3 | g.10359927C>A | CA351781239 | ATP2B2 | c.1721G>T (p.Ser574Ile) c.1823G>T (p.Ser608Ile) c.1856G>T (p.Ser619Ile) c.1763G>T (p.Ser588Ile) c.1115G>T (p.Ser372Ile) c.1424G>T (p.Ser475Ile) c.788G>T (p.Ser263Ile) | |
| 3 | g.10359927C= | CA1345191700 | ATP2B2 | c.1721G= (p.Ser574=) c.1823G= (p.Ser608=) c.1856G= (p.Ser619=) c.1763G= (p.Ser588=) c.1115G= (p.Ser372=) c.1424G= (p.Ser475=) c.788G= (p.Ser263=) | |
| 3 | g.10359927C>G | CA351781238 | ATP2B2 | c.1721G>C (p.Ser574Thr) c.1823G>C (p.Ser608Thr) c.1856G>C (p.Ser619Thr) c.1763G>C (p.Ser588Thr) c.1115G>C (p.Ser372Thr) c.1424G>C (p.Ser475Thr) c.788G>C (p.Ser263Thr) | gnomAD v4 |
| 3 | g.10359927C>T | CA351781237 | ATP2B2 | c.1721G>A (p.Ser574Asn) c.1823G>A (p.Ser608Asn) c.1856G>A (p.Ser619Asn) c.1763G>A (p.Ser588Asn) c.1115G>A (p.Ser372Asn) c.1424G>A (p.Ser475Asn) c.788G>A (p.Ser263Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10359928T>A | CA351781240 | ATP2B2 | c.1720A>T (p.Ser574Cys) c.1822A>T (p.Ser608Cys) c.1855A>T (p.Ser619Cys) c.1762A>T (p.Ser588Cys) c.1114A>T (p.Ser372Cys) c.1423A>T (p.Ser475Cys) c.787A>T (p.Ser263Cys) | |
| 3 | g.10359928T>C | CA351781242 | ATP2B2 | c.1720A>G (p.Ser574Gly) c.1822A>G (p.Ser608Gly) c.1855A>G (p.Ser619Gly) c.1762A>G (p.Ser588Gly) c.1114A>G (p.Ser372Gly) c.1423A>G (p.Ser475Gly) c.787A>G (p.Ser263Gly) | |
| 3 | g.10359928T>G | CA351781241 | ATP2B2 | c.1720A>C (p.Ser574Arg) c.1822A>C (p.Ser608Arg) c.1855A>C (p.Ser619Arg) c.1762A>C (p.Ser588Arg) c.1114A>C (p.Ser372Arg) c.1423A>C (p.Ser475Arg) c.787A>C (p.Ser263Arg) | |
| 3 | g.10359929C>A | CA351781243 | ATP2B2 | c.1719G>T (p.Glu573Asp) c.1821G>T (p.Glu607Asp) c.1854G>T (p.Glu618Asp) c.1761G>T (p.Glu587Asp) c.1113G>T (p.Glu371Asp) c.1422G>T (p.Glu474Asp) c.786G>T (p.Glu262Asp) | |
| 3 | g.10359929C= | CA1345191704 | ATP2B2 | c.1719G= (p.Glu573=) c.1821G= (p.Glu607=) c.1854G= (p.Glu618=) c.1761G= (p.Glu587=) c.1113G= (p.Glu371=) c.1422G= (p.Glu474=) c.786G= (p.Glu262=) | |
| 3 | g.10359929C>G | CA351781244 | ATP2B2 | c.1719G>C (p.Glu573Asp) c.1821G>C (p.Glu607Asp) c.1854G>C (p.Glu618Asp) c.1761G>C (p.Glu587Asp) c.1113G>C (p.Glu371Asp) c.1422G>C (p.Glu474Asp) c.786G>C (p.Glu262Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359929C>T | CA432537828 | ATP2B2 | c.1719G>A (p.Glu573=) c.1821G>A (p.Glu607=) c.1854G>A (p.Glu618=) c.1761G>A (p.Glu587=) c.1113G>A (p.Glu371=) c.1422G>A (p.Glu474=) c.786G>A (p.Glu262=) | dbSNP gnomAD v4 |
| 3 | g.10359930T>A | CA351781245 | ATP2B2 | c.1718A>T (p.Glu573Val) c.1820A>T (p.Glu607Val) c.1853A>T (p.Glu618Val) c.1760A>T (p.Glu587Val) c.1112A>T (p.Glu371Val) c.1421A>T (p.Glu474Val) c.785A>T (p.Glu262Val) | |
| 3 | g.10359930T>C | CA351781247 | ATP2B2 | c.1718A>G (p.Glu573Gly) c.1820A>G (p.Glu607Gly) c.1853A>G (p.Glu618Gly) c.1760A>G (p.Glu587Gly) c.1112A>G (p.Glu371Gly) c.1421A>G (p.Glu474Gly) c.785A>G (p.Glu262Gly) | |
| 3 | g.10359930T>G | CA351781246 | ATP2B2 | c.1718A>C (p.Glu573Ala) c.1820A>C (p.Glu607Ala) c.1853A>C (p.Glu618Ala) c.1760A>C (p.Glu587Ala) c.1112A>C (p.Glu371Ala) c.1421A>C (p.Glu474Ala) c.785A>C (p.Glu262Ala) | |
| 3 | g.10359931C>A | CA351781248 | ATP2B2 | c.1717G>T (p.Glu573Ter) c.1819G>T (p.Glu607Ter) c.1852G>T (p.Glu618Ter) c.1759G>T (p.Glu587Ter) c.1111G>T (p.Glu371Ter) c.1420G>T (p.Glu474Ter) c.784G>T (p.Glu262Ter) | |
| 3 | g.10359931C= | CA1345191708 | ATP2B2 | c.1717G= (p.Glu573=) c.1819G= (p.Glu607=) c.1852G= (p.Glu618=) c.1759G= (p.Glu587=) c.1111G= (p.Glu371=) c.1420G= (p.Glu474=) c.784G= (p.Glu262=) | |
| 3 | g.10359931C>G | CA351781249 | ATP2B2 | c.1717G>C (p.Glu573Gln) c.1819G>C (p.Glu607Gln) c.1852G>C (p.Glu618Gln) c.1759G>C (p.Glu587Gln) c.1111G>C (p.Glu371Gln) c.1420G>C (p.Glu474Gln) c.784G>C (p.Glu262Gln) | |
| 3 | g.10359931C>T | CA2253566 | ATP2B2 | c.1717G>A (p.Glu573Lys) c.1819G>A (p.Glu607Lys) c.1852G>A (p.Glu618Lys) c.1759G>A (p.Glu587Lys) c.1111G>A (p.Glu371Lys) c.1420G>A (p.Glu474Lys) c.784G>A (p.Glu262Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359932G>A | CA2253567 | ATP2B2 | c.1716C>T (p.Asp572=) c.1818C>T (p.Asp606=) c.1851C>T (p.Asp617=) c.1758C>T (p.Asp586=) c.1110C>T (p.Asp370=) c.1419C>T (p.Asp473=) c.783C>T (p.Asp261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359932G>C | CA351781250 | ATP2B2 | c.1716C>G (p.Asp572Glu) c.1818C>G (p.Asp606Glu) c.1851C>G (p.Asp617Glu) c.1758C>G (p.Asp586Glu) c.1110C>G (p.Asp370Glu) c.1419C>G (p.Asp473Glu) c.783C>G (p.Asp261Glu) | dbSNP gnomAD v4 |
| 3 | g.10359932G= | CA1345191712 | ATP2B2 | c.1716C= (p.Asp572=) c.1818C= (p.Asp606=) c.1851C= (p.Asp617=) c.1758C= (p.Asp586=) c.1110C= (p.Asp370=) c.1419C= (p.Asp473=) c.783C= (p.Asp261=) | |
| 3 | g.10359932G>T | CA351781251 | ATP2B2 | c.1716C>A (p.Asp572Glu) c.1818C>A (p.Asp606Glu) c.1851C>A (p.Asp617Glu) c.1758C>A (p.Asp586Glu) c.1110C>A (p.Asp370Glu) c.1419C>A (p.Asp473Glu) c.783C>A (p.Asp261Glu) | gnomAD v4 |
| 3 | g.10359933T>A | CA351781252 | ATP2B2 | c.1715A>T (p.Asp572Val) c.1817A>T (p.Asp606Val) c.1850A>T (p.Asp617Val) c.1757A>T (p.Asp586Val) c.1109A>T (p.Asp370Val) c.1418A>T (p.Asp473Val) c.782A>T (p.Asp261Val) | |
| 3 | g.10359933T>C | CA351781253 | ATP2B2 | c.1715A>G (p.Asp572Gly) c.1817A>G (p.Asp606Gly) c.1850A>G (p.Asp617Gly) c.1757A>G (p.Asp586Gly) c.1109A>G (p.Asp370Gly) c.1418A>G (p.Asp473Gly) c.782A>G (p.Asp261Gly) | |
| 3 | g.10359933T>G | CA351781254 | ATP2B2 | c.1715A>C (p.Asp572Ala) c.1817A>C (p.Asp606Ala) c.1850A>C (p.Asp617Ala) c.1757A>C (p.Asp586Ala) c.1109A>C (p.Asp370Ala) c.1418A>C (p.Asp473Ala) c.782A>C (p.Asp261Ala) | |
| 3 | g.10359934C>A | CA351781255 | ATP2B2 | c.1714G>T (p.Asp572Tyr) c.1816G>T (p.Asp606Tyr) c.1849G>T (p.Asp617Tyr) c.1756G>T (p.Asp586Tyr) c.1108G>T (p.Asp370Tyr) c.1417G>T (p.Asp473Tyr) c.781G>T (p.Asp261Tyr) | |
| 3 | g.10359934C= | CA1345191717 | ATP2B2 | c.1714G= (p.Asp572=) c.1816G= (p.Asp606=) c.1849G= (p.Asp617=) c.1756G= (p.Asp586=) c.1108G= (p.Asp370=) c.1417G= (p.Asp473=) c.781G= (p.Asp261=) | |
| 3 | g.10359934C>G | CA351781256 | ATP2B2 | c.1714G>C (p.Asp572His) c.1816G>C (p.Asp606His) c.1849G>C (p.Asp617His) c.1756G>C (p.Asp586His) c.1108G>C (p.Asp370His) c.1417G>C (p.Asp473His) c.781G>C (p.Asp261His) | |
| 3 | g.10359934C>T | CA2253568 | ATP2B2 | c.1714G>A (p.Asp572Asn) c.1816G>A (p.Asp606Asn) c.1849G>A (p.Asp617Asn) c.1756G>A (p.Asp586Asn) c.1108G>A (p.Asp370Asn) c.1417G>A (p.Asp473Asn) c.781G>A (p.Asp261Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359935G>A | CA2253569 | ATP2B2 | c.1713C>T (p.Pro571=) c.1815C>T (p.Pro605=) c.1848C>T (p.Pro616=) c.1755C>T (p.Pro585=) c.1107C>T (p.Pro369=) c.1416C>T (p.Pro472=) c.780C>T (p.Pro260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10359935G>C | CA432537831 | ATP2B2 | c.1713C>G (p.Pro571=) c.1815C>G (p.Pro605=) c.1848C>G (p.Pro616=) c.1755C>G (p.Pro585=) c.1107C>G (p.Pro369=) c.1416C>G (p.Pro472=) c.780C>G (p.Pro260=) | |
| 3 | g.10359935G= | CA1345191721 | ATP2B2 | c.1713C= (p.Pro571=) c.1815C= (p.Pro605=) c.1848C= (p.Pro616=) c.1755C= (p.Pro585=) c.1107C= (p.Pro369=) c.1416C= (p.Pro472=) c.780C= (p.Pro260=) | |
| 3 | g.10359935G>T | CA432537830 | ATP2B2 | c.1713C>A (p.Pro571=) c.1815C>A (p.Pro605=) c.1848C>A (p.Pro616=) c.1755C>A (p.Pro585=) c.1107C>A (p.Pro369=) c.1416C>A (p.Pro472=) c.780C>A (p.Pro260=) | gnomAD v4 |
| 3 | g.10359936G>A | CA351781257 | ATP2B2 | c.1712C>T (p.Pro571Leu) c.1814C>T (p.Pro605Leu) c.1847C>T (p.Pro616Leu) c.1754C>T (p.Pro585Leu) c.1106C>T (p.Pro369Leu) c.1415C>T (p.Pro472Leu) c.779C>T (p.Pro260Leu) | |
| 3 | g.10359936G>C | CA351781258 | ATP2B2 | c.1712C>G (p.Pro571Arg) c.1814C>G (p.Pro605Arg) c.1847C>G (p.Pro616Arg) c.1754C>G (p.Pro585Arg) c.1106C>G (p.Pro369Arg) c.1415C>G (p.Pro472Arg) c.779C>G (p.Pro260Arg) | COSMIC COSMIC |
| 3 | g.10359936G>T | CA351781259 | ATP2B2 | c.1712C>A (p.Pro571His) c.1814C>A (p.Pro605His) c.1847C>A (p.Pro616His) c.1754C>A (p.Pro585His) c.1106C>A (p.Pro369His) c.1415C>A (p.Pro472His) c.779C>A (p.Pro260His) | |
| 3 | g.10359937G>A | CA351781260 | ATP2B2 | c.1711C>T (p.Pro571Ser) c.1813C>T (p.Pro605Ser) c.1846C>T (p.Pro616Ser) c.1753C>T (p.Pro585Ser) c.1105C>T (p.Pro369Ser) c.1414C>T (p.Pro472Ser) c.778C>T (p.Pro260Ser) | gnomAD v4 |
| 3 | g.10359937G>C | CA351781261 | ATP2B2 | c.1711C>G (p.Pro571Ala) c.1813C>G (p.Pro605Ala) c.1846C>G (p.Pro616Ala) c.1753C>G (p.Pro585Ala) c.1105C>G (p.Pro369Ala) c.1414C>G (p.Pro472Ala) c.778C>G (p.Pro260Ala) | |
| 3 | g.10359937G>T | CA351781262 | ATP2B2 | c.1711C>A (p.Pro571Thr) c.1813C>A (p.Pro605Thr) c.1846C>A (p.Pro616Thr) c.1753C>A (p.Pro585Thr) c.1105C>A (p.Pro369Thr) c.1414C>A (p.Pro472Thr) c.778C>A (p.Pro260Thr) | |
| 3 | g.10359938C>A | CA432537833 | ATP2B2 | c.1710G>T (p.Leu570=) c.1812G>T (p.Leu604=) c.1845G>T (p.Leu615=) c.1752G>T (p.Leu584=) c.1104G>T (p.Leu368=) c.1413G>T (p.Leu471=) c.777G>T (p.Leu259=) | dbSNP |
| 3 | g.10359938C= | CA1345191724 | ATP2B2 | c.1710G= (p.Leu570=) c.1812G= (p.Leu604=) c.1845G= (p.Leu615=) c.1752G= (p.Leu584=) c.1104G= (p.Leu368=) c.1413G= (p.Leu471=) c.777G= (p.Leu259=) | |
| 3 | g.10359938C>G | CA432537835 | ATP2B2 | c.1710G>C (p.Leu570=) c.1812G>C (p.Leu604=) c.1845G>C (p.Leu615=) c.1752G>C (p.Leu584=) c.1104G>C (p.Leu368=) c.1413G>C (p.Leu471=) c.777G>C (p.Leu259=) | |
| 3 | g.10359938C>T | CA432537834 | ATP2B2 | c.1710G>A (p.Leu570=) c.1812G>A (p.Leu604=) c.1845G>A (p.Leu615=) c.1752G>A (p.Leu584=) c.1104G>A (p.Leu368=) c.1413G>A (p.Leu471=) c.777G>A (p.Leu259=) | gnomAD v4 |
| 3 | g.10359939A>C | CA351781263 | ATP2B2 | c.1709T>G (p.Leu570Arg) c.1811T>G (p.Leu604Arg) c.1844T>G (p.Leu615Arg) c.1751T>G (p.Leu584Arg) c.1103T>G (p.Leu368Arg) c.1412T>G (p.Leu471Arg) c.776T>G (p.Leu259Arg) | |
| 3 | g.10359939A>G | CA351781264 | ATP2B2 | c.1709T>C (p.Leu570Pro) c.1811T>C (p.Leu604Pro) c.1844T>C (p.Leu615Pro) c.1751T>C (p.Leu584Pro) c.1103T>C (p.Leu368Pro) c.1412T>C (p.Leu471Pro) c.776T>C (p.Leu259Pro) | gnomAD v4 |
| 3 | g.10359939A>T | CA351781265 | ATP2B2 | c.1709T>A (p.Leu570Gln) c.1811T>A (p.Leu604Gln) c.1844T>A (p.Leu615Gln) c.1751T>A (p.Leu584Gln) c.1103T>A (p.Leu368Gln) c.1412T>A (p.Leu471Gln) c.776T>A (p.Leu259Gln) | |
| 3 | g.10359940G>A | CA432537841 | ATP2B2 | c.1708C>T (p.Leu570=) c.1810C>T (p.Leu604=) c.1843C>T (p.Leu615=) c.1750C>T (p.Leu584=) c.1102C>T (p.Leu368=) c.1411C>T (p.Leu471=) c.775C>T (p.Leu259=) | dbSNP |
| 3 | g.10359940G>C | CA351781266 | ATP2B2 | c.1708C>G (p.Leu570Val) c.1810C>G (p.Leu604Val) c.1843C>G (p.Leu615Val) c.1750C>G (p.Leu584Val) c.1102C>G (p.Leu368Val) c.1411C>G (p.Leu471Val) c.775C>G (p.Leu259Val) | |
| 3 | g.10359940G= | CA1345191726 | ATP2B2 | c.1708C= (p.Leu570=) c.1810C= (p.Leu604=) c.1843C= (p.Leu615=) c.1750C= (p.Leu584=) c.1102C= (p.Leu368=) c.1411C= (p.Leu471=) c.775C= (p.Leu259=) | |
| 3 | g.10359940G>T | CA351781267 | ATP2B2 | c.1708C>A (p.Leu570Met) c.1810C>A (p.Leu604Met) c.1843C>A (p.Leu615Met) c.1750C>A (p.Leu584Met) c.1102C>A (p.Leu368Met) c.1411C>A (p.Leu471Met) c.775C>A (p.Leu259Met) | |
| 3 | g.10359941C>A | CA351781269 | ATP2B2 | c.1707G>T (p.Lys569Asn) c.1809G>T (p.Lys603Asn) c.1842G>T (p.Lys614Asn) c.1749G>T (p.Lys583Asn) c.1101G>T (p.Lys367Asn) c.1410G>T (p.Lys470Asn) c.774G>T (p.Lys258Asn) | gnomAD v4 |
| 3 | g.10359941C>G | CA351781268 | ATP2B2 | c.1707G>C (p.Lys569Asn) c.1809G>C (p.Lys603Asn) c.1842G>C (p.Lys614Asn) c.1749G>C (p.Lys583Asn) c.1101G>C (p.Lys367Asn) c.1410G>C (p.Lys470Asn) c.774G>C (p.Lys258Asn) | |
| 3 | g.10359941C>T | CA432537842 | ATP2B2 | c.1707G>A (p.Lys569=) c.1809G>A (p.Lys603=) c.1842G>A (p.Lys614=) c.1749G>A (p.Lys583=) c.1101G>A (p.Lys367=) c.1410G>A (p.Lys470=) c.774G>A (p.Lys258=) | |
| 3 | g.10359942T>A | CA351781270 | ATP2B2 | c.1706A>T (p.Lys569Met) c.1808A>T (p.Lys603Met) c.1841A>T (p.Lys614Met) c.1748A>T (p.Lys583Met) c.1100A>T (p.Lys367Met) c.1409A>T (p.Lys470Met) c.773A>T (p.Lys258Met) | |
| 3 | g.10359942T>C | CA351781271 | ATP2B2 | c.1706A>G (p.Lys569Arg) c.1808A>G (p.Lys603Arg) c.1841A>G (p.Lys614Arg) c.1748A>G (p.Lys583Arg) c.1100A>G (p.Lys367Arg) c.1409A>G (p.Lys470Arg) c.773A>G (p.Lys258Arg) | |
| 3 | g.10359942T>G | CA351781272 | ATP2B2 | c.1706A>C (p.Lys569Thr) c.1808A>C (p.Lys603Thr) c.1841A>C (p.Lys614Thr) c.1748A>C (p.Lys583Thr) c.1100A>C (p.Lys367Thr) c.1409A>C (p.Lys470Thr) c.773A>C (p.Lys258Thr) | |
| 3 | g.10359943T>A | CA351781273 | ATP2B2 | c.1705A>T (p.Lys569Ter) c.1807A>T (p.Lys603Ter) c.1840A>T (p.Lys614Ter) c.1747A>T (p.Lys583Ter) c.1099A>T (p.Lys367Ter) c.1408A>T (p.Lys470Ter) c.772A>T (p.Lys258Ter) | |
| 3 | g.10359943T>C | CA351781274 | ATP2B2 | c.1705A>G (p.Lys569Glu) c.1807A>G (p.Lys603Glu) c.1840A>G (p.Lys614Glu) c.1747A>G (p.Lys583Glu) c.1099A>G (p.Lys367Glu) c.1408A>G (p.Lys470Glu) c.772A>G (p.Lys258Glu) | |
| 3 | g.10359943T>G | CA351781275 | ATP2B2 | c.1705A>C (p.Lys569Gln) c.1807A>C (p.Lys603Gln) c.1840A>C (p.Lys614Gln) c.1747A>C (p.Lys583Gln) c.1099A>C (p.Lys367Gln) c.1408A>C (p.Lys470Gln) c.772A>C (p.Lys258Gln) | |
| 3 | g.10359944G>A | CA432537843 | ATP2B2 | c.1704C>T (p.Ile568=) c.1806C>T (p.Ile602=) c.1839C>T (p.Ile613=) c.1746C>T (p.Ile582=) c.1098C>T (p.Ile366=) c.1407C>T (p.Ile469=) c.771C>T (p.Ile257=) | COSMIC COSMIC |
| 3 | g.10359944G>C | CA351781276 | ATP2B2 | c.1704C>G (p.Ile568Met) c.1806C>G (p.Ile602Met) c.1839C>G (p.Ile613Met) c.1746C>G (p.Ile582Met) c.1098C>G (p.Ile366Met) c.1407C>G (p.Ile469Met) c.771C>G (p.Ile257Met) | dbSNP |
| 3 | g.10359944G>T | CA432537844 | ATP2B2 | c.1704C>A (p.Ile568=) c.1806C>A (p.Ile602=) c.1839C>A (p.Ile613=) c.1746C>A (p.Ile582=) c.1098C>A (p.Ile366=) c.1407C>A (p.Ile469=) c.771C>A (p.Ile257=) | |
| 3 | g.10359945A>C | CA351781277 | ATP2B2 | c.1703T>G (p.Ile568Ser) c.1805T>G (p.Ile602Ser) c.1838T>G (p.Ile613Ser) c.1745T>G (p.Ile582Ser) c.1097T>G (p.Ile366Ser) c.1406T>G (p.Ile469Ser) c.770T>G (p.Ile257Ser) | |
| 3 | g.10359945A>G | CA351781278 | ATP2B2 | c.1703T>C (p.Ile568Thr) c.1805T>C (p.Ile602Thr) c.1838T>C (p.Ile613Thr) c.1745T>C (p.Ile582Thr) c.1097T>C (p.Ile366Thr) c.1406T>C (p.Ile469Thr) c.770T>C (p.Ile257Thr) | |
| 3 | g.10359945A>T | CA351781279 | ATP2B2 | c.1703T>A (p.Ile568Asn) c.1805T>A (p.Ile602Asn) c.1838T>A (p.Ile613Asn) c.1745T>A (p.Ile582Asn) c.1097T>A (p.Ile366Asn) c.1406T>A (p.Ile469Asn) c.770T>A (p.Ile257Asn) | |
| 3 | g.10359946T>A | CA351781280 | ATP2B2 | c.1702A>T (p.Ile568Phe) c.1804A>T (p.Ile602Phe) c.1837A>T (p.Ile613Phe) c.1744A>T (p.Ile582Phe) c.1096A>T (p.Ile366Phe) c.1405A>T (p.Ile469Phe) c.769A>T (p.Ile257Phe) | COSMIC |
| 3 | g.10359946T>C | CA351781281 | ATP2B2 | c.1702A>G (p.Ile568Val) c.1804A>G (p.Ile602Val) c.1837A>G (p.Ile613Val) c.1744A>G (p.Ile582Val) c.1096A>G (p.Ile366Val) c.1405A>G (p.Ile469Val) c.769A>G (p.Ile257Val) | |
| 3 | g.10359946T>G | CA351781282 | ATP2B2 | c.1702A>C (p.Ile568Leu) c.1804A>C (p.Ile602Leu) c.1837A>C (p.Ile613Leu) c.1744A>C (p.Ile582Leu) c.1096A>C (p.Ile366Leu) c.1405A>C (p.Ile469Leu) c.769A>C (p.Ile257Leu) | |
| 3 | g.10359947G>A | CA432537845 | ATP2B2 | c.1701C>T (p.Val567=) c.1803C>T (p.Val601=) c.1836C>T (p.Val612=) c.1743C>T (p.Val581=) c.1095C>T (p.Val365=) c.1404C>T (p.Val468=) c.768C>T (p.Val256=) | dbSNP |
| 3 | g.10359947G>C | CA432537847 | ATP2B2 | c.1701C>G (p.Val567=) c.1803C>G (p.Val601=) c.1836C>G (p.Val612=) c.1743C>G (p.Val581=) c.1095C>G (p.Val365=) c.1404C>G (p.Val468=) c.768C>G (p.Val256=) | |
| 3 | g.10359947G= | CA1345191728 | ATP2B2 | c.1701C= (p.Val567=) c.1803C= (p.Val601=) c.1836C= (p.Val612=) c.1743C= (p.Val581=) c.1095C= (p.Val365=) c.1404C= (p.Val468=) c.768C= (p.Val256=) | |
| 3 | g.10359947G>T | CA432537846 | ATP2B2 | c.1701C>A (p.Val567=) c.1803C>A (p.Val601=) c.1836C>A (p.Val612=) c.1743C>A (p.Val581=) c.1095C>A (p.Val365=) c.1404C>A (p.Val468=) c.768C>A (p.Val256=) | |
| 3 | g.10359948A>C | CA351781283 | ATP2B2 | c.1700T>G (p.Val567Gly) c.1802T>G (p.Val601Gly) c.1835T>G (p.Val612Gly) c.1742T>G (p.Val581Gly) c.1094T>G (p.Val365Gly) c.1403T>G (p.Val468Gly) c.767T>G (p.Val256Gly) | |
| 3 | g.10359948A>G | CA351781285 | ATP2B2 | c.1700T>C (p.Val567Ala) c.1802T>C (p.Val601Ala) c.1835T>C (p.Val612Ala) c.1742T>C (p.Val581Ala) c.1094T>C (p.Val365Ala) c.1403T>C (p.Val468Ala) c.767T>C (p.Val256Ala) | |
| 3 | g.10359948A>T | CA351781284 | ATP2B2 | c.1700T>A (p.Val567Asp) c.1802T>A (p.Val601Asp) c.1835T>A (p.Val612Asp) c.1742T>A (p.Val581Asp) c.1094T>A (p.Val365Asp) c.1403T>A (p.Val468Asp) c.767T>A (p.Val256Asp) | |
| 3 | g.10359949C>A | CA351781286 | ATP2B2 | c.1699G>T (p.Val567Phe) c.1801G>T (p.Val601Phe) c.1834G>T (p.Val612Phe) c.1741G>T (p.Val581Phe) c.1093G>T (p.Val365Phe) c.1402G>T (p.Val468Phe) c.766G>T (p.Val256Phe) | |
| 3 | g.10359949C>G | CA351781287 | ATP2B2 | c.1699G>C (p.Val567Leu) c.1801G>C (p.Val601Leu) c.1834G>C (p.Val612Leu) c.1741G>C (p.Val581Leu) c.1093G>C (p.Val365Leu) c.1402G>C (p.Val468Leu) c.766G>C (p.Val256Leu) | |
| 3 | g.10359949C>T | CA351781288 | ATP2B2 | c.1699G>A (p.Val567Ile) c.1801G>A (p.Val601Ile) c.1834G>A (p.Val612Ile) c.1741G>A (p.Val581Ile) c.1093G>A (p.Val365Ile) c.1402G>A (p.Val468Ile) c.766G>A (p.Val256Ile) | gnomAD v4 |
| 3 | g.10359950A= | CA1345191733 | ATP2B2 | c.1698T= (p.Thr566=) c.1800T= (p.Thr600=) c.1833T= (p.Thr611=) c.1740T= (p.Thr580=) c.1092T= (p.Thr364=) c.1401T= (p.Thr467=) c.765T= (p.Thr255=) | |
| 3 | g.10359950A>C | CA432537848 | ATP2B2 | c.1698T>G (p.Thr566=) c.1800T>G (p.Thr600=) c.1833T>G (p.Thr611=) c.1740T>G (p.Thr580=) c.1092T>G (p.Thr364=) c.1401T>G (p.Thr467=) c.765T>G (p.Thr255=) | |
| 3 | g.10359950A>G | CA70099934 | ATP2B2 | c.1698T>C (p.Thr566=) c.1800T>C (p.Thr600=) c.1833T>C (p.Thr611=) c.1740T>C (p.Thr580=) c.1092T>C (p.Thr364=) c.1401T>C (p.Thr467=) c.765T>C (p.Thr255=) | dbSNP gnomAD v4 |
| 3 | g.10359950A>T | CA432537849 | ATP2B2 | c.1698T>A (p.Thr566=) c.1800T>A (p.Thr600=) c.1833T>A (p.Thr611=) c.1740T>A (p.Thr580=) c.1092T>A (p.Thr364=) c.1401T>A (p.Thr467=) c.765T>A (p.Thr255=) | |
| 3 | g.10359951G>A | CA351781289 | ATP2B2 | c.1697C>T (p.Thr566Ile) c.1799C>T (p.Thr600Ile) c.1832C>T (p.Thr611Ile) c.1739C>T (p.Thr580Ile) c.1091C>T (p.Thr364Ile) c.1400C>T (p.Thr467Ile) c.764C>T (p.Thr255Ile) | |
| 3 | g.10359951G>C | CA351781290 | ATP2B2 | c.1697C>G (p.Thr566Ser) c.1799C>G (p.Thr600Ser) c.1832C>G (p.Thr611Ser) c.1739C>G (p.Thr580Ser) c.1091C>G (p.Thr364Ser) c.1400C>G (p.Thr467Ser) c.764C>G (p.Thr255Ser) | |
| 3 | g.10359951G>T | CA351781291 | ATP2B2 | c.1697C>A (p.Thr566Asn) c.1799C>A (p.Thr600Asn) c.1832C>A (p.Thr611Asn) c.1739C>A (p.Thr580Asn) c.1091C>A (p.Thr364Asn) c.1400C>A (p.Thr467Asn) c.764C>A (p.Thr255Asn) | |
| 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) |