Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900712C>A | CA494874362 | ATP2A1 | c.1896C>A (p.Ala632=) c.1521C>A (p.Ala507=) | |
16 | g.28900712C= | CA2215884736 | ATP2A1 | c.1896C= (p.Ala632=) c.1521C= (p.Ala507=) | |
16 | g.28900712C>G | CA494874363 | ATP2A1 | c.1896C>G (p.Ala632=) c.1521C>G (p.Ala507=) | |
16 | g.28900712C>T | CA494874364 | ATP2A1 | c.1896C>T (p.Ala632=) c.1521C>T (p.Ala507=) | dbSNP gnomAD v2 |
16 | g.28900713A>C | CA395411181 | ATP2A1 | c.1897A>C (p.Ile633Leu) c.1522A>C (p.Ile508Leu) | |
16 | g.28900713A>G | CA395411182 | ATP2A1 | c.1897A>G (p.Ile633Val) c.1522A>G (p.Ile508Val) | |
16 | g.28900713A>T | CA395411183 | ATP2A1 | c.1897A>T (p.Ile633Phe) c.1522A>T (p.Ile508Phe) | |
16 | g.28900714T>A | CA395411184 | ATP2A1 | c.1898T>A (p.Ile633Asn) c.1523T>A (p.Ile508Asn) | |
16 | g.28900714T>C | CA395411185 | ATP2A1 | c.1898T>C (p.Ile633Thr) c.1523T>C (p.Ile508Thr) | |
16 | g.28900714T>G | CA395411186 | ATP2A1 | c.1898T>G (p.Ile633Ser) c.1523T>G (p.Ile508Ser) | |
16 | g.28900715T>A | CA494874365 | ATP2A1 | c.1899T>A (p.Ile633=) c.1524T>A (p.Ile508=) | |
16 | g.28900715T>C | CA279240233 | ATP2A1 | c.1899T>C (p.Ile633=) c.1524T>C (p.Ile508=) | ClinVar dbSNP |
16 | g.28900715T>G | CA395411187 | ATP2A1 | c.1899T>G (p.Ile633Met) c.1524T>G (p.Ile508Met) | |
16 | g.28900715T= | CA2215884746 | ATP2A1 | c.1899T= (p.Ile633=) c.1524T= (p.Ile508=) | |
16 | g.28900716G>A | CA395411188 | ATP2A1 | c.1900G>A (p.Ala634Thr) c.1525G>A (p.Ala509Thr) | |
16 | g.28900716G>C | CA395411189 | ATP2A1 | c.1900G>C (p.Ala634Pro) c.1525G>C (p.Ala509Pro) | |
16 | g.28900716G>T | CA395411190 | ATP2A1 | c.1900G>T (p.Ala634Ser) c.1525G>T (p.Ala509Ser) | |
16 | g.28900717C>A | CA395411193 | ATP2A1 | c.1901C>A (p.Ala634Asp) c.1526C>A (p.Ala509Asp) | |
16 | g.28900717C>G | CA395411192 | ATP2A1 | c.1901C>G (p.Ala634Gly) c.1526C>G (p.Ala509Gly) | |
16 | g.28900717C>T | CA395411191 | ATP2A1 | c.1901C>T (p.Ala634Val) c.1526C>T (p.Ala509Val) | gnomAD v4 |
16 | g.28900718C>A | CA494874366 | ATP2A1 | c.1902C>A (p.Ala634=) c.1527C>A (p.Ala509=) | |
16 | g.28900718C>G | CA494874367 | ATP2A1 | c.1902C>G (p.Ala634=) c.1527C>G (p.Ala509=) | |
16 | g.28900718C>T | CA494874368 | ATP2A1 | c.1902C>T (p.Ala634=) c.1527C>T (p.Ala509=) | |
16 | g.28900719A>C | CA395411196 | ATP2A1 | c.1903A>C (p.Ile635Leu) c.1528A>C (p.Ile510Leu) | |
16 | g.28900719A>G | CA395411194 | ATP2A1 | c.1903A>G (p.Ile635Val) c.1528A>G (p.Ile510Val) | |
16 | g.28900719A>T | CA395411195 | ATP2A1 | c.1903A>T (p.Ile635Phe) c.1528A>T (p.Ile510Phe) | |
16 | g.28900720T>A | CA395411197 | ATP2A1 | c.1904T>A (p.Ile635Asn) c.1529T>A (p.Ile510Asn) | |
16 | g.28900720T>C | CA395411198 | ATP2A1 | c.1904T>C (p.Ile635Thr) c.1529T>C (p.Ile510Thr) | |
16 | g.28900720T>G | CA395411199 | ATP2A1 | c.1904T>G (p.Ile635Ser) c.1529T>G (p.Ile510Ser) | |
16 | g.28900721C>A | CA494874369 | ATP2A1 | c.1905C>A (p.Ile635=) c.1530C>A (p.Ile510=) | |
16 | g.28900721C= | CA2215884750 | ATP2A1 | c.1905C= (p.Ile635=) c.1530C= (p.Ile510=) | |
16 | g.28900721C>G | CA395411200 | ATP2A1 | c.1905C>G (p.Ile635Met) c.1530C>G (p.Ile510Met) | |
16 | g.28900721C>T | CA7987110 | ATP2A1 | c.1905C>T (p.Ile635=) c.1530C>T (p.Ile510=) | dbSNP ExAC gnomAD v2 |
16 | g.28900722T>A | CA395411201 | ATP2A1 | c.1906T>A (p.Cys636Ser) c.1531T>A (p.Cys511Ser) | |
16 | g.28900722T>C | CA395411202 | ATP2A1 | c.1906T>C (p.Cys636Arg) c.1531T>C (p.Cys511Arg) | |
16 | g.28900722T>G | CA395411203 | ATP2A1 | c.1906T>G (p.Cys636Gly) c.1531T>G (p.Cys511Gly) | |
16 | g.28900723G>A | CA395411204 | ATP2A1 | c.1907G>A (p.Cys636Tyr) c.1532G>A (p.Cys511Tyr) | |
16 | g.28900723G>C | CA395411205 | ATP2A1 | c.1907G>C (p.Cys636Ser) c.1532G>C (p.Cys511Ser) | |
16 | g.28900723G>T | CA395411206 | ATP2A1 | c.1907G>T (p.Cys636Phe) c.1532G>T (p.Cys511Phe) | |
16 | g.28900724C>A | CA395411208 | ATP2A1 | c.1908C>A (p.Cys636Ter) c.1533C>A (p.Cys511Ter) | |
16 | g.28900724C= | CA2215884754 | ATP2A1 | c.1908C= (p.Cys636=) c.1533C= (p.Cys511=) | |
16 | g.28900724C>G | CA395411207 | ATP2A1 | c.1908C>G (p.Cys636Trp) c.1533C>G (p.Cys511Trp) | |
16 | g.28900724C>T | CA494874370 | ATP2A1 | c.1908C>T (p.Cys636=) c.1533C>T (p.Cys511=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900725C>A | CA494874371 | ATP2A1 | c.1909C>A (p.Arg637=) c.1534C>A (p.Arg512=) | |
16 | g.28900725C= | CA2215884766 | ATP2A1 | c.1909C= (p.Arg637=) c.1534C= (p.Arg512=) | |
16 | g.28900725C>G | CA395411209 | ATP2A1 | c.1909C>G (p.Arg637Gly) c.1534C>G (p.Arg512Gly) | |
16 | g.28900725C>T | CA7987111 | ATP2A1 | c.1909C>T (p.Arg637Trp) c.1534C>T (p.Arg512Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900726G>A | CA7987112 | ATP2A1 | c.1910G>A (p.Arg637Gln) c.1535G>A (p.Arg512Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900726G>C | CA395411210 | ATP2A1 | c.1910G>C (p.Arg637Pro) c.1535G>C (p.Arg512Pro) | |
16 | g.28900726G= | CA2215884780 | ATP2A1 | c.1910G= (p.Arg637=) c.1535G= (p.Arg512=) | |
16 | g.28900726G>T | CA395411211 | ATP2A1 | c.1910G>T (p.Arg637Leu) c.1535G>T (p.Arg512Leu) | |
16 | g.28900727G>A | CA7987113 | ATP2A1 | c.1911G>A (p.Arg637=) c.1536G>A (p.Arg512=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900727G>C | CA494874373 | ATP2A1 | c.1911G>C (p.Arg637=) c.1536G>C (p.Arg512=) | |
16 | g.28900727G= | CA2215884788 | ATP2A1 | c.1911G= (p.Arg637=) c.1536G= (p.Arg512=) | |
16 | g.28900727G>T | CA494874372 | ATP2A1 | c.1911G>T (p.Arg637=) c.1536G>T (p.Arg512=) | |
16 | g.28900728C>A | CA494874374 | ATP2A1 | c.1912C>A (p.Arg638=) c.1537C>A (p.Arg513=) | |
16 | g.28900728C= | CA2215884796 | ATP2A1 | c.1912C= (p.Arg638=) c.1537C= (p.Arg513=) | |
16 | g.28900728C>G | CA395411212 | ATP2A1 | c.1912C>G (p.Arg638Gly) c.1537C>G (p.Arg513Gly) | |
16 | g.28900728C>T | CA7987114 | ATP2A1 | c.1912C>T (p.Arg638Ter) c.1537C>T (p.Arg513Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900729G>A | CA7987115 | ATP2A1 | c.1913G>A (p.Arg638Gln) c.1538G>A (p.Arg513Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900729G>C | CA395411213 | ATP2A1 | c.1913G>C (p.Arg638Pro) c.1538G>C (p.Arg513Pro) | |
16 | g.28900729G= | CA2215884801 | ATP2A1 | c.1913G= (p.Arg638=) c.1538G= (p.Arg513=) | |
16 | g.28900729G>T | CA395411214 | ATP2A1 | c.1913G>T (p.Arg638Leu) c.1538G>T (p.Arg513Leu) | |
16 | g.28900730A= | CA2215884808 | ATP2A1 | c.1914A= (p.Arg638=) c.1539A= (p.Arg513=) | |
16 | g.28900730A>C | CA494874375 | ATP2A1 | c.1914A>C (p.Arg638=) c.1539A>C (p.Arg513=) | dbSNP |
16 | g.28900730A>G | CA494874376 | ATP2A1 | c.1914A>G (p.Arg638=) c.1539A>G (p.Arg513=) | ClinVar gnomAD v4 |
16 | g.28900730A>T | CA494874377 | ATP2A1 | c.1914A>T (p.Arg638=) c.1539A>T (p.Arg513=) | |
16 | g.28900731A>C | CA395411215 | ATP2A1 | c.1915A>C (p.Ile639Leu) c.1540A>C (p.Ile514Leu) | |
16 | g.28900731A>G | CA395411216 | ATP2A1 | c.1915A>G (p.Ile639Val) c.1540A>G (p.Ile514Val) | |
16 | g.28900731A>T | CA395411217 | ATP2A1 | c.1915A>T (p.Ile639Phe) c.1540A>T (p.Ile514Phe) | |
16 | g.28900732T>A | CA7987117 | ATP2A1 | c.1916T>A (p.Ile639Asn) c.1541T>A (p.Ile514Asn) | dbSNP ExAC gnomAD v2 |
16 | g.28900732T>C | CA7987116 | ATP2A1 | c.1916T>C (p.Ile639Thr) c.1541T>C (p.Ile514Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900732T>G | CA395411218 | ATP2A1 | c.1916T>G (p.Ile639Ser) c.1541T>G (p.Ile514Ser) | |
16 | g.28900732T= | CA2215884815 | ATP2A1 | c.1916T= (p.Ile639=) c.1541T= (p.Ile514=) | |
16 | g.28900733T>A | CA494874378 | ATP2A1 | c.1917T>A (p.Ile639=) c.1542T>A (p.Ile514=) | |
16 | g.28900733T>C | CA494874379 | ATP2A1 | c.1917T>C (p.Ile639=) c.1542T>C (p.Ile514=) | dbSNP |
16 | g.28900733T>G | CA7987118 | ATP2A1 | c.1917T>G (p.Ile639Met) c.1542T>G (p.Ile514Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900733T= | CA2215884821 | ATP2A1 | c.1917T= (p.Ile639=) c.1542T= (p.Ile514=) | |
16 | g.28900734G>A | CA395411219 | ATP2A1 | c.1918G>A (p.Gly640Ser) c.1543G>A (p.Gly515Ser) | gnomAD v4 |
16 | g.28900734G>C | CA395411220 | ATP2A1 | c.1918G>C (p.Gly640Arg) c.1543G>C (p.Gly515Arg) | |
16 | g.28900734G>T | CA395411221 | ATP2A1 | c.1918G>T (p.Gly640Cys) c.1543G>T (p.Gly515Cys) | |
16 | g.28900735G>A | CA395411222 | ATP2A1 | c.1919G>A (p.Gly640Asp) c.1544G>A (p.Gly515Asp) | gnomAD v4 |
16 | g.28900735G>C | CA395411223 | ATP2A1 | c.1919G>C (p.Gly640Ala) c.1544G>C (p.Gly515Ala) | |
16 | g.28900735G>T | CA395411224 | ATP2A1 | c.1919G>T (p.Gly640Val) c.1544G>T (p.Gly515Val) | |
16 | g.28900736C>A | CA494874380 | ATP2A1 | c.1920C>A (p.Gly640=) c.1545C>A (p.Gly515=) | |
16 | g.28900736C>G | CA494874381 | ATP2A1 | c.1920C>G (p.Gly640=) c.1545C>G (p.Gly515=) | |
16 | g.28900736C>T | CA494874382 | ATP2A1 | c.1920C>T (p.Gly640=) c.1545C>T (p.Gly515=) | |
16 | g.28900737A= | CA2215884835 | ATP2A1 | c.1921A= (p.Ile641=) c.1546A= (p.Ile516=) | |
16 | g.28900737A>C | CA395411227 | ATP2A1 | c.1921A>C (p.Ile641Leu) c.1546A>C (p.Ile516Leu) | |
16 | g.28900737A>G | CA395411225 | ATP2A1 | c.1921A>G (p.Ile641Val) c.1546A>G (p.Ile516Val) | dbSNP |
16 | g.28900737A>T | CA395411226 | ATP2A1 | c.1921A>T (p.Ile641Phe) c.1546A>T (p.Ile516Phe) | |
16 | g.28900738T>A | CA395411228 | ATP2A1 | c.1922T>A (p.Ile641Asn) c.1547T>A (p.Ile516Asn) | |
16 | g.28900738T>C | CA395411229 | ATP2A1 | c.1922T>C (p.Ile641Thr) c.1547T>C (p.Ile516Thr) | |
16 | g.28900738T>G | CA395411230 | ATP2A1 | c.1922T>G (p.Ile641Ser) c.1547T>G (p.Ile516Ser) | |
16 | g.28900739C>A | CA494874383 | ATP2A1 | c.1923C>A (p.Ile641=) c.1548C>A (p.Ile516=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900739C= | CA2215884842 | ATP2A1 | c.1923C= (p.Ile641=) c.1548C= (p.Ile516=) | |
16 | g.28900739C>G | CA395411231 | ATP2A1 | c.1923C>G (p.Ile641Met) c.1548C>G (p.Ile516Met) | |
16 | g.28900739C>T | CA7987119 | ATP2A1 | c.1923C>T (p.Ile641=) c.1548C>T (p.Ile516=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900740T>A | CA395411232 | ATP2A1 | c.1924T>A (p.Phe642Ile) c.1549T>A (p.Phe517Ile) | |
16 | g.28900740T>C | CA395411234 | ATP2A1 | c.1924T>C (p.Phe642Leu) c.1549T>C (p.Phe517Leu) | |
16 | g.28900740T>G | CA395411233 | ATP2A1 | c.1924T>G (p.Phe642Val) c.1549T>G (p.Phe517Val) | |
16 | g.28900741T>A | CA395411235 | ATP2A1 | c.1925T>A (p.Phe642Tyr) c.1550T>A (p.Phe517Tyr) | |
16 | g.28900741T>C | CA395411236 | ATP2A1 | c.1925T>C (p.Phe642Ser) c.1550T>C (p.Phe517Ser) | dbSNP |
16 | g.28900741T>G | CA395411237 | ATP2A1 | c.1925T>G (p.Phe642Cys) c.1550T>G (p.Phe517Cys) | |
16 | g.28900741T= | CA2215884848 | ATP2A1 | c.1925T= (p.Phe642=) c.1550T= (p.Phe517=) | |
16 | g.28900742T>A | CA395411238 | ATP2A1 | c.1926T>A (p.Phe642Leu) c.1551T>A (p.Phe517Leu) | |
16 | g.28900742T>C | CA494874384 | ATP2A1 | c.1926T>C (p.Phe642=) c.1551T>C (p.Phe517=) | dbSNP |
16 | g.28900742T>G | CA395411239 | ATP2A1 | c.1926T>G (p.Phe642Leu) c.1551T>G (p.Phe517Leu) | |
16 | g.28900742T= | CA2215884855 | ATP2A1 | c.1926T= (p.Phe642=) c.1551T= (p.Phe517=) | |
16 | g.28900743G>A | CA395411240 | ATP2A1 | c.1927G>A (p.Gly643Arg) c.1552G>A (p.Gly518Arg) | |
16 | g.28900743G>C | CA395411241 | ATP2A1 | c.1927G>C (p.Gly643Arg) c.1552G>C (p.Gly518Arg) | |
16 | g.28900743G>T | CA395411242 | ATP2A1 | c.1927G>T (p.Gly643Trp) c.1552G>T (p.Gly518Trp) | |
16 | g.28900746del | CA2632539945 | ATP2A1 | c.1930del (p.Glu644ArgfsTer?) c.1555del (p.Glu519ArgfsTer?) | gnomAD v4 |
16 | g.28900744G>A | CA395411243 | ATP2A1 | c.1928G>A (p.Gly643Glu) c.1553G>A (p.Gly518Glu) | gnomAD v4 |
16 | g.28900744G>C | CA279240302 | ATP2A1 | c.1928G>C (p.Gly643Ala) c.1553G>C (p.Gly518Ala) | dbSNP |
16 | g.28900744G= | CA2215884858 | ATP2A1 | c.1928G= (p.Gly643=) c.1553G= (p.Gly518=) | |
16 | g.28900744G>T | CA395411244 | ATP2A1 | c.1928G>T (p.Gly643Val) c.1553G>T (p.Gly518Val) | |
16 | g.28900745G>A | CA279240303 | ATP2A1 | c.1929G>A (p.Gly643=) c.1554G>A (p.Gly518=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900745G>C | CA494874385 | ATP2A1 | c.1929G>C (p.Gly643=) c.1554G>C (p.Gly518=) | |
16 | g.28900745G= | CA2215884865 | ATP2A1 | c.1929G= (p.Gly643=) c.1554G= (p.Gly518=) | |
16 | g.28900745G>T | CA494874386 | ATP2A1 | c.1929G>T (p.Gly643=) c.1554G>T (p.Gly518=) | gnomAD v4 |
16 | g.28900746G>A | CA395411247 | ATP2A1 | c.1930G>A (p.Glu644Lys) c.1555G>A (p.Glu519Lys) | |
16 | g.28900746G>C | CA395411245 | ATP2A1 | c.1930G>C (p.Glu644Gln) c.1555G>C (p.Glu519Gln) | |
16 | g.28900746G>T | CA395411246 | ATP2A1 | c.1930G>T (p.Glu644Ter) c.1555G>T (p.Glu519Ter) | |
16 | g.28900747A>C | CA395411248 | ATP2A1 | c.1931A>C (p.Glu644Ala) c.1556A>C (p.Glu519Ala) | |
16 | g.28900747A>G | CA395411249 | ATP2A1 | c.1931A>G (p.Glu644Gly) c.1556A>G (p.Glu519Gly) | gnomAD v4 |
16 | g.28900747A>T | CA395411250 | ATP2A1 | c.1931A>T (p.Glu644Val) c.1556A>T (p.Glu519Val) | |
16 | g.28900748G>A | CA279240308 | ATP2A1 | c.1932G>A (p.Glu644=) c.1557G>A (p.Glu519=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900748G>C | CA395411251 | ATP2A1 | c.1932G>C (p.Glu644Asp) c.1557G>C (p.Glu519Asp) | |
16 | g.28900748G= | CA2215884877 | ATP2A1 | c.1932G= (p.Glu644=) c.1557G= (p.Glu519=) | |
16 | g.28900748G>T | CA395411252 | ATP2A1 | c.1932G>T (p.Glu644Asp) c.1557G>T (p.Glu519Asp) | |
16 | g.28900749A>C | CA395411255 | ATP2A1 | c.1933A>C (p.Asn645His) c.1558A>C (p.Asn520His) | |
16 | g.28900749A>G | CA395411254 | ATP2A1 | c.1933A>G (p.Asn645Asp) c.1558A>G (p.Asn520Asp) | |
16 | g.28900749A>T | CA395411253 | ATP2A1 | c.1933A>T (p.Asn645Tyr) c.1558A>T (p.Asn520Tyr) | |
16 | g.28900750A>C | CA395411256 | ATP2A1 | c.1934A>C (p.Asn645Thr) c.1559A>C (p.Asn520Thr) | |
16 | g.28900750A>G | CA395411257 | ATP2A1 | c.1934A>G (p.Asn645Ser) c.1559A>G (p.Asn520Ser) | |
16 | g.28900750A>T | CA395411258 | ATP2A1 | c.1934A>T (p.Asn645Ile) c.1559A>T (p.Asn520Ile) | |
16 | g.28900751C>A | CA395411259 | ATP2A1 | c.1935C>A (p.Asn645Lys) c.1560C>A (p.Asn520Lys) | |
16 | g.28900751C= | CA2215884885 | ATP2A1 | c.1935C= (p.Asn645=) c.1560C= (p.Asn520=) | |
16 | g.28900751C>G | CA395411260 | ATP2A1 | c.1935C>G (p.Asn645Lys) c.1560C>G (p.Asn520Lys) | |
16 | g.28900751C>T | CA7987120 | ATP2A1 | c.1935C>T (p.Asn645=) c.1560C>T (p.Asn520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900752G>A | CA7987121 | ATP2A1 | c.1936G>A (p.Glu646Lys) c.1561G>A (p.Glu521Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900752G>C | CA7987122 | ATP2A1 | c.1936G>C (p.Glu646Gln) c.1561G>C (p.Glu521Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900752G= | CA2215884907 | ATP2A1 | c.1936G= (p.Glu646=) c.1561G= (p.Glu521=) | |
16 | g.28900752G>T | CA395411261 | ATP2A1 | c.1936G>T (p.Glu646Ter) c.1561G>T (p.Glu521Ter) | |
16 | g.28900756_28900758del | CA645573195 | ATP2A1 | c.1940_1942del (p.Glu647del) c.1565_1567del (p.Glu522del) | COSMIC COSMIC |
16 | g.28900753A>C | CA395411262 | ATP2A1 | c.1937A>C (p.Glu646Ala) c.1562A>C (p.Glu521Ala) | |
16 | g.28900753A>G | CA395411263 | ATP2A1 | c.1937A>G (p.Glu646Gly) c.1562A>G (p.Glu521Gly) | |
16 | g.28900753A>T | CA395411264 | ATP2A1 | c.1937A>T (p.Glu646Val) c.1562A>T (p.Glu521Val) | |
16 | g.28900754G>A | CA494874387 | ATP2A1 | c.1938G>A (p.Glu646=) c.1563G>A (p.Glu521=) | dbSNP |
16 | g.28900754G>C | CA395411265 | ATP2A1 | c.1938G>C (p.Glu646Asp) c.1563G>C (p.Glu521Asp) | ClinVar |
16 | g.28900754G= | CA2215884917 | ATP2A1 | c.1938G= (p.Glu646=) c.1563G= (p.Glu521=) | |
16 | g.28900754G>T | CA395411266 | ATP2A1 | c.1938G>T (p.Glu646Asp) c.1563G>T (p.Glu521Asp) | |
16 | g.28900755G>A | CA395411267 | ATP2A1 | c.1939G>A (p.Glu647Lys) c.1564G>A (p.Glu522Lys) | gnomAD v4 |
16 | g.28900755G>C | CA395411268 | ATP2A1 | c.1939G>C (p.Glu647Gln) c.1564G>C (p.Glu522Gln) | |
16 | g.28900755G>T | CA395411269 | ATP2A1 | c.1939G>T (p.Glu647Ter) c.1564G>T (p.Glu522Ter) | |
16 | g.28900756A>C | CA395411270 | ATP2A1 | c.1940A>C (p.Glu647Ala) c.1565A>C (p.Glu522Ala) | |
16 | g.28900756A>G | CA395411271 | ATP2A1 | c.1940A>G (p.Glu647Gly) c.1565A>G (p.Glu522Gly) | |
16 | g.28900756A>T | CA395411272 | ATP2A1 | c.1940A>T (p.Glu647Val) c.1565A>T (p.Glu522Val) | gnomAD v4 |
16 | g.28900757G>A | CA10643415 | ATP2A1 | c.1941G>A (p.Glu647=) c.1566G>A (p.Glu522=) | ClinVar dbSNP gnomAD v4 |
16 | g.28900757G>C | CA395411274 | ATP2A1 | c.1941G>C (p.Glu647Asp) c.1566G>C (p.Glu522Asp) | |
16 | g.28900757G= | CA2215884921 | ATP2A1 | c.1941G= (p.Glu647=) c.1566G= (p.Glu522=) | |
16 | g.28900757G>T | CA395411273 | ATP2A1 | c.1941G>T (p.Glu647Asp) c.1566G>T (p.Glu522Asp) | |
16 | g.28900758G>A | CA395411275 | ATP2A1 | c.1942G>A (p.Val648Met) c.1567G>A (p.Val523Met) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900758G>C | CA395411277 | ATP2A1 | c.1942G>C (p.Val648Leu) c.1567G>C (p.Val523Leu) | |
16 | g.28900758G= | CA2215884925 | ATP2A1 | c.1942G= (p.Val648=) c.1567G= (p.Val523=) | |
16 | g.28900758G>T | CA395411276 | ATP2A1 | c.1942G>T (p.Val648Leu) c.1567G>T (p.Val523Leu) | |
16 | g.28900759T>A | CA395411278 | ATP2A1 | c.1943T>A (p.Val648Glu) c.1568T>A (p.Val523Glu) | |
16 | g.28900759T>C | CA395411280 | ATP2A1 | c.1943T>C (p.Val648Ala) c.1568T>C (p.Val523Ala) | |
16 | g.28900759T>G | CA395411279 | ATP2A1 | c.1943T>G (p.Val648Gly) c.1568T>G (p.Val523Gly) | |
16 | g.28900760G>A | CA494874388 | ATP2A1 | c.1944G>A (p.Val648=) c.1569G>A (p.Val523=) | |
16 | g.28900760G>C | CA494874389 | ATP2A1 | c.1944G>C (p.Val648=) c.1569G>C (p.Val523=) | |
16 | g.28900760G>T | CA494874390 | ATP2A1 | c.1944G>T (p.Val648=) c.1569G>T (p.Val523=) | |
16 | g.28900761G>A | CA395411281 | ATP2A1 | c.1945G>A (p.Ala649Thr) c.1570G>A (p.Ala524Thr) | dbSNP |
16 | g.28900761G>C | CA395411282 | ATP2A1 | c.1945G>C (p.Ala649Pro) c.1570G>C (p.Ala524Pro) | |
16 | g.28900761G= | CA2215884932 | ATP2A1 | c.1945G= (p.Ala649=) c.1570G= (p.Ala524=) | |
16 | g.28900761G>T | CA395411283 | ATP2A1 | c.1945G>T (p.Ala649Ser) c.1570G>T (p.Ala524Ser) | |
16 | g.28900762C>A | CA395411284 | ATP2A1 | c.1946C>A (p.Ala649Asp) c.1571C>A (p.Ala524Asp) | |
16 | g.28900762C= | CA2215884936 | ATP2A1 | c.1946C= (p.Ala649=) c.1571C= (p.Ala524=) | |
16 | g.28900762C>G | CA395411285 | ATP2A1 | c.1946C>G (p.Ala649Gly) c.1571C>G (p.Ala524Gly) | |
16 | g.28900762C>T | CA395411286 | ATP2A1 | c.1946C>T (p.Ala649Val) c.1571C>T (p.Ala524Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900763C>A | CA494874392 | ATP2A1 | c.1947C>A (p.Ala649=) c.1572C>A (p.Ala524=) | |
16 | g.28900763C= | CA2215884942 | ATP2A1 | c.1947C= (p.Ala649=) c.1572C= (p.Ala524=) | |
16 | g.28900763C>G | CA494874393 | ATP2A1 | c.1947C>G (p.Ala649=) c.1572C>G (p.Ala524=) | dbSNP |
16 | g.28900763C>T | CA494874391 | ATP2A1 | c.1947C>T (p.Ala649=) c.1572C>T (p.Ala524=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900764G>A | CA7987123 | ATP2A1 | c.1948G>A (p.Asp650Asn) c.1573G>A (p.Asp525Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900764G>C | CA395411287 | ATP2A1 | c.1948G>C (p.Asp650His) c.1573G>C (p.Asp525His) | |
16 | g.28900764G= | CA2215884950 | ATP2A1 | c.1948G= (p.Asp650=) c.1573G= (p.Asp525=) | |
16 | g.28900764G>T | CA7987124 | ATP2A1 | c.1948G>T (p.Asp650Tyr) c.1573G>T (p.Asp525Tyr) | dbSNP ExAC gnomAD v2 |
16 | g.28900765A= | CA2215884952 | ATP2A1 | c.1949A= (p.Asp650=) c.1574A= (p.Asp525=) | |
16 | g.28900765A>C | CA395411288 | ATP2A1 | c.1949A>C (p.Asp650Ala) c.1574A>C (p.Asp525Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900765A>G | CA395411289 | ATP2A1 | c.1949A>G (p.Asp650Gly) c.1574A>G (p.Asp525Gly) | |
16 | g.28900765A>T | CA395411290 | ATP2A1 | c.1949A>T (p.Asp650Val) c.1574A>T (p.Asp525Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900766T>A | CA395411291 | ATP2A1 | c.1950T>A (p.Asp650Glu) c.1575T>A (p.Asp525Glu) | |
16 | g.28900766T>C | CA494874394 | ATP2A1 | c.1950T>C (p.Asp650=) c.1575T>C (p.Asp525=) | dbSNP |
16 | g.28900766T>G | CA395411292 | ATP2A1 | c.1950T>G (p.Asp650Glu) c.1575T>G (p.Asp525Glu) | |
16 | g.28900766T= | CA2215884957 | ATP2A1 | c.1950T= (p.Asp650=) c.1575T= (p.Asp525=) | |
16 | g.28900767C>A | CA395411293 | ATP2A1 | c.1951C>A (p.Arg651Ser) c.1576C>A (p.Arg526Ser) | COSMIC COSMIC |
16 | g.28900767C= | CA2215884966 | ATP2A1 | c.1951C= (p.Arg651=) c.1576C= (p.Arg526=) | |
16 | g.28900767C>G | CA395411294 | ATP2A1 | c.1951C>G (p.Arg651Gly) c.1576C>G (p.Arg526Gly) | dbSNP gnomAD v4 |
16 | g.28900767C>T | CA279240353 | ATP2A1 | c.1951C>T (p.Arg651Cys) c.1576C>T (p.Arg526Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900768G>A | CA7987125 | ATP2A1 | c.1952G>A (p.Arg651His) c.1577G>A (p.Arg526His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900768G>C | CA395411295 | ATP2A1 | c.1952G>C (p.Arg651Pro) c.1577G>C (p.Arg526Pro) | |
16 | g.28900768G= | CA2215884971 | ATP2A1 | c.1952G= (p.Arg651=) c.1577G= (p.Arg526=) | |
16 | g.28900768G>T | CA395411296 | ATP2A1 | c.1952G>T (p.Arg651Leu) c.1577G>T (p.Arg526Leu) | |
16 | g.28900769C>A | CA494874395 | ATP2A1 | c.1953C>A (p.Arg651=) c.1578C>A (p.Arg526=) | dbSNP |
16 | g.28900769C= | CA2215884978 | ATP2A1 | c.1953C= (p.Arg651=) c.1578C= (p.Arg526=) | |
16 | g.28900769C>G | CA494874396 | ATP2A1 | c.1953C>G (p.Arg651=) c.1578C>G (p.Arg526=) | |
16 | g.28900769C>T | CA7987126 | ATP2A1 | c.1953C>T (p.Arg651=) c.1578C>T (p.Arg526=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900770G>A | CA7987127 | ATP2A1 | c.1954G>A (p.Ala652Thr) c.1579G>A (p.Ala527Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900770G>C | CA395411297 | ATP2A1 | c.1954G>C (p.Ala652Pro) c.1579G>C (p.Ala527Pro) | |
16 | g.28900770G= | CA2215884985 | ATP2A1 | c.1954G= (p.Ala652=) c.1579G= (p.Ala527=) | |
16 | g.28900770G>T | CA395411298 | ATP2A1 | c.1954G>T (p.Ala652Ser) c.1579G>T (p.Ala527Ser) | |
16 | g.28900771C>A | CA395411300 | ATP2A1 | c.1955C>A (p.Ala652Asp) c.1580C>A (p.Ala527Asp) | |
16 | g.28900771C>G | CA395411301 | ATP2A1 | c.1955C>G (p.Ala652Gly) c.1580C>G (p.Ala527Gly) | |
16 | g.28900771C>T | CA395411299 | ATP2A1 | c.1955C>T (p.Ala652Val) c.1580C>T (p.Ala527Val) | gnomAD v4 |
16 | g.28900772C>A | CA494874397 | ATP2A1 | c.1956C>A (p.Ala652=) c.1581C>A (p.Ala527=) | |
16 | g.28900772C= | CA2215884994 | ATP2A1 | c.1956C= (p.Ala652=) c.1581C= (p.Ala527=) | |
16 | g.28900772C>G | CA494874398 | ATP2A1 | c.1956C>G (p.Ala652=) c.1581C>G (p.Ala527=) | |
16 | g.28900772C>T | CA7987128 | ATP2A1 | c.1956C>T (p.Ala652=) c.1581C>T (p.Ala527=) | dbSNP ExAC gnomAD v2 |
16 | g.28900773T>A | CA395411302 | ATP2A1 | c.1957T>A (p.Tyr653Asn) c.1582T>A (p.Tyr528Asn) | |
16 | g.28900773T>C | CA395411303 | ATP2A1 | c.1957T>C (p.Tyr653His) c.1582T>C (p.Tyr528His) | ClinVar |
16 | g.28900773T>G | CA395411304 | ATP2A1 | c.1957T>G (p.Tyr653Asp) c.1582T>G (p.Tyr528Asp) | |
16 | g.28900774A= | CA2215885000 | ATP2A1 | c.1958A= (p.Tyr653=) c.1583A= (p.Tyr528=) | |
16 | g.28900774A>C | CA395411305 | ATP2A1 | c.1958A>C (p.Tyr653Ser) c.1583A>C (p.Tyr528Ser) | |
16 | g.28900774A>G | CA7987129 | ATP2A1 | c.1958A>G (p.Tyr653Cys) c.1583A>G (p.Tyr528Cys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.28900774A>T | CA395411306 | ATP2A1 | c.1958A>T (p.Tyr653Phe) c.1583A>T (p.Tyr528Phe) | |
16 | g.28900775C>A | CA395411307 | ATP2A1 | c.1959C>A (p.Tyr653Ter) c.1584C>A (p.Tyr528Ter) | |
16 | g.28900775C>G | CA395411308 | ATP2A1 | c.1959C>G (p.Tyr653Ter) c.1584C>G (p.Tyr528Ter) | |
16 | g.28900775C>T | CA494874399 | ATP2A1 | c.1959C>T (p.Tyr653=) c.1584C>T (p.Tyr528=) | |
16 | g.28900776A>C | CA395411309 | ATP2A1 | c.1960A>C (p.Thr654Pro) c.1585A>C (p.Thr529Pro) | |
16 | g.28900776A>G | CA395411310 | ATP2A1 | c.1960A>G (p.Thr654Ala) c.1585A>G (p.Thr529Ala) | gnomAD v4 |
16 | g.28900776A>T | CA395411311 | ATP2A1 | c.1960A>T (p.Thr654Ser) c.1585A>T (p.Thr529Ser) | |
16 | g.28900777C>A | CA395411312 | ATP2A1 | c.1961C>A (p.Thr654Lys) c.1586C>A (p.Thr529Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900777C= | CA2215885019 | ATP2A1 | c.1961C= (p.Thr654=) c.1586C= (p.Thr529=) | |
16 | g.28900777C>G | CA395411313 | ATP2A1 | c.1961C>G (p.Thr654Arg) c.1586C>G (p.Thr529Arg) | |
16 | g.28900777C>T | CA7987130 | ATP2A1 | c.1961C>T (p.Thr654Met) c.1586C>T (p.Thr529Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900778G>A | CA7987131 | ATP2A1 | c.1962G>A (p.Thr654=) c.1587G>A (p.Thr529=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900778G>C | CA494874400 | ATP2A1 | c.1962G>C (p.Thr654=) c.1587G>C (p.Thr529=) | dbSNP |
16 | g.28900778G= | CA2215885025 | ATP2A1 | c.1962G= (p.Thr654=) c.1587G= (p.Thr529=) | |
16 | g.28900778G>T | CA494874401 | ATP2A1 | c.1962G>T (p.Thr654=) c.1587G>T (p.Thr529=) | |
16 | g.28900779G>A | CA395411314 | ATP2A1 | c.1963G>A (p.Gly655Ser) c.1588G>A (p.Gly530Ser) | |
16 | g.28900779G>C | CA395411315 | ATP2A1 | c.1963G>C (p.Gly655Arg) c.1588G>C (p.Gly530Arg) | |
16 | g.28900779G>T | CA395411316 | ATP2A1 | c.1963G>T (p.Gly655Cys) c.1588G>T (p.Gly530Cys) | |
16 | g.28900780G>A | CA395411319 | ATP2A1 | c.1964G>A (p.Gly655Asp) c.1589G>A (p.Gly530Asp) | |
16 | g.28900780G>C | CA395411318 | ATP2A1 | c.1964G>C (p.Gly655Ala) c.1589G>C (p.Gly530Ala) | |
16 | g.28900780G>T | CA395411317 | ATP2A1 | c.1964G>T (p.Gly655Val) c.1589G>T (p.Gly530Val) | |
16 | g.28900781C>A | CA494874402 | ATP2A1 | c.1965C>A (p.Gly655=) c.1590C>A (p.Gly530=) | |
16 | g.28900781C= | CA2215885030 | ATP2A1 | c.1965C= (p.Gly655=) c.1590C= (p.Gly530=) | |
16 | g.28900781C>G | CA494874403 | ATP2A1 | c.1965C>G (p.Gly655=) c.1590C>G (p.Gly530=) | |
16 | g.28900781C>T | CA494874404 | ATP2A1 | c.1965C>T (p.Gly655=) c.1590C>T (p.Gly530=) | dbSNP |
16 | g.28900782C>A | CA7987133 | ATP2A1 | c.1966C>A (p.Arg656=) c.1591C>A (p.Arg531=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
16 | g.28900782C= | CA2215885034 | ATP2A1 | c.1966C= (p.Arg656=) c.1591C= (p.Arg531=) | |
16 | g.28900782C>G | CA395411320 | ATP2A1 | c.1966C>G (p.Arg656Gly) c.1591C>G (p.Arg531Gly) | |
16 | g.28900782C>T | CA7987132 | ATP2A1 | c.1966C>T (p.Arg656Ter) c.1591C>T (p.Arg531Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900783G>A | CA7987134 | ATP2A1 | c.1967G>A (p.Arg656Gln) c.1592G>A (p.Arg531Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900783G>C | CA395411321 | ATP2A1 | c.1967G>C (p.Arg656Pro) c.1592G>C (p.Arg531Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900783G= | CA2215885039 | ATP2A1 | c.1967G= (p.Arg656=) c.1592G= (p.Arg531=) | |
16 | g.28900783G>T | CA7987135 | ATP2A1 | c.1967G>T (p.Arg656Leu) c.1592G>T (p.Arg531Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900786_28900787del | CA2632539976 | ATP2A1 | c.1970_1971del (p.Glu657ValfsTer8) c.1595_1596del (p.Glu532ValfsTer8) | gnomAD v4 |
16 | g.28900784A= | CA2215885043 | ATP2A1 | c.1968A= (p.Arg656=) c.1593A= (p.Arg531=) | |
16 | g.28900784A>C | CA494874405 | ATP2A1 | c.1968A>C (p.Arg656=) c.1593A>C (p.Arg531=) | |
16 | g.28900784A>G | CA494874407 | ATP2A1 | c.1968A>G (p.Arg656=) c.1593A>G (p.Arg531=) | dbSNP |
16 | g.28900784A>T | CA494874406 | ATP2A1 | c.1968A>T (p.Arg656=) c.1593A>T (p.Arg531=) | |
16 | g.28900784dup | CA622162501 | ATP2A1 | c.1968dup (p.Glu657ArgfsTer9) c.1593dup (p.Glu532ArgfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900785G>A | CA395411324 | ATP2A1 | c.1969G>A (p.Glu657Lys) c.1594G>A (p.Glu532Lys) | COSMIC |
16 | g.28900785G>C | CA395411323 | ATP2A1 | c.1969G>C (p.Glu657Gln) c.1594G>C (p.Glu532Gln) | dbSNP |
16 | g.28900785G= | CA2215885049 | ATP2A1 | c.1969G= (p.Glu657=) c.1594G= (p.Glu532=) | |
16 | g.28900785G>T | CA395411322 | ATP2A1 | c.1969G>T (p.Glu657Ter) c.1594G>T (p.Glu532Ter) | |
16 | g.28900786A>C | CA395411325 | ATP2A1 | c.1970A>C (p.Glu657Ala) c.1595A>C (p.Glu532Ala) | |
16 | g.28900786A>G | CA395411327 | ATP2A1 | c.1970A>G (p.Glu657Gly) c.1595A>G (p.Glu532Gly) | |
16 | g.28900786A>T | CA395411326 | ATP2A1 | c.1970A>T (p.Glu657Val) c.1595A>T (p.Glu532Val) | |
16 | g.28900787G>A | CA494874408 | ATP2A1 | c.1971G>A (p.Glu657=) c.1596G>A (p.Glu532=) | |
16 | g.28900787G>C | CA395411328 | ATP2A1 | c.1971G>C (p.Glu657Asp) c.1596G>C (p.Glu532Asp) | dbSNP |
16 | g.28900787G>T | CA395411329 | ATP2A1 | c.1971G>T (p.Glu657Asp) c.1596G>T (p.Glu532Asp) | |
16 | g.28900788T>A | CA395411330 | ATP2A1 | c.1972T>A (p.Phe658Ile) c.1597T>A (p.Phe533Ile) | |
16 | g.28900788T>C | CA395411331 | ATP2A1 | c.1972T>C (p.Phe658Leu) c.1597T>C (p.Phe533Leu) | |
16 | g.28900788T>G | CA395411332 | ATP2A1 | c.1972T>G (p.Phe658Val) c.1597T>G (p.Phe533Val) | |
16 | g.28900789T>A | CA395411333 | ATP2A1 | c.1973T>A (p.Phe658Tyr) c.1598T>A (p.Phe533Tyr) | |
16 | g.28900789T>C | CA395411334 | ATP2A1 | c.1973T>C (p.Phe658Ser) c.1598T>C (p.Phe533Ser) | |
16 | g.28900789T>G | CA395411335 | ATP2A1 | c.1973T>G (p.Phe658Cys) c.1598T>G (p.Phe533Cys) | |
16 | g.28900790C>A | CA395411336 | ATP2A1 | c.1974C>A (p.Phe658Leu) c.1599C>A (p.Phe533Leu) | ClinVar dbSNP gnomAD v2 |
16 | g.28900790C= | CA2215885060 | ATP2A1 | c.1974C= (p.Phe658=) c.1599C= (p.Phe533=) | |
16 | g.28900790C>G | CA395411337 | ATP2A1 | c.1974C>G (p.Phe658Leu) c.1599C>G (p.Phe533Leu) | gnomAD v4 |
16 | g.28900790C>T | CA7987136 | ATP2A1 | c.1974C>T (p.Phe658=) c.1599C>T (p.Phe533=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900791G>A | CA7987137 | ATP2A1 | c.1975G>A (p.Asp659Asn) c.1600G>A (p.Asp534Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900791G>C | CA395411339 | ATP2A1 | c.1975G>C (p.Asp659His) c.1600G>C (p.Asp534His) | |
16 | g.28900791G= | CA2215885080 | ATP2A1 | c.1975G= (p.Asp659=) c.1600G= (p.Asp534=) | |
16 | g.28900791G>T | CA395411338 | ATP2A1 | c.1975G>T (p.Asp659Tyr) c.1600G>T (p.Asp534Tyr) | |
16 | g.28900792A= | CA2215885087 | ATP2A1 | c.1976A= (p.Asp659=) c.1601A= (p.Asp534=) | |
16 | g.28900792A>C | CA395411340 | ATP2A1 | c.1976A>C (p.Asp659Ala) c.1601A>C (p.Asp534Ala) | |
16 | g.28900792A>G | CA395411341 | ATP2A1 | c.1976A>G (p.Asp659Gly) c.1601A>G (p.Asp534Gly) | ClinVar dbSNP |
16 | g.28900792A>T | CA395411342 | ATP2A1 | c.1976A>T (p.Asp659Val) c.1601A>T (p.Asp534Val) | |
16 | g.28900793C>A | CA395411343 | ATP2A1 | c.1977C>A (p.Asp659Glu) c.1602C>A (p.Asp534Glu) | gnomAD v4 |
16 | g.28900793C= | CA2215885102 | ATP2A1 | c.1977C= (p.Asp659=) c.1602C= (p.Asp534=) | |
16 | g.28900793C>G | CA395411344 | ATP2A1 | c.1977C>G (p.Asp659Glu) c.1602C>G (p.Asp534Glu) | gnomAD v4 |
16 | g.28900793C>T | CA494874409 | ATP2A1 | c.1977C>T (p.Asp659=) c.1602C>T (p.Asp534=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900794G>A | CA7987138 | ATP2A1 | c.1978G>A (p.Asp660Asn) c.1603G>A (p.Asp535Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.28900794G>C | CA395411345 | ATP2A1 | c.1978G>C (p.Asp660His) c.1603G>C (p.Asp535His) | |
16 | g.28900794G= | CA2215885116 | ATP2A1 | c.1978G= (p.Asp660=) c.1603G= (p.Asp535=) | |
16 | g.28900794G>T | CA395411346 | ATP2A1 | c.1978G>T (p.Asp660Tyr) c.1603G>T (p.Asp535Tyr) | |
16 | g.28900795A>C | CA395411347 | ATP2A1 | c.1979A>C (p.Asp660Ala) c.1604A>C (p.Asp535Ala) | |
16 | g.28900795A>G | CA395411348 | ATP2A1 | c.1979A>G (p.Asp660Gly) c.1604A>G (p.Asp535Gly) | |
16 | g.28900795A>T | CA395411349 | ATP2A1 | c.1979A>T (p.Asp660Val) c.1604A>T (p.Asp535Val) | |
16 | g.28900796C>A | CA395411350 | ATP2A1 | c.1980C>A (p.Asp660Glu) c.1605C>A (p.Asp535Glu) | |
16 | g.28900796C= | CA2215885122 | ATP2A1 | c.1980C= (p.Asp660=) c.1605C= (p.Asp535=) | |
16 | g.28900796C>G | CA395411351 | ATP2A1 | c.1980C>G (p.Asp660Glu) c.1605C>G (p.Asp535Glu) | |
16 | g.28900796C>T | CA494874410 | ATP2A1 | c.1980C>T (p.Asp660=) c.1605C>T (p.Asp535=) | dbSNP gnomAD v4 |
16 | g.28900797C>A | CA395411352 | ATP2A1 | c.1981C>A (p.Leu661Met) c.1606C>A (p.Leu536Met) | |
16 | g.28900797C>G | CA395411353 | ATP2A1 | c.1981C>G (p.Leu661Val) c.1606C>G (p.Leu536Val) | |
16 | g.28900797C>T | CA494874411 | ATP2A1 | c.1981C>T (p.Leu661=) c.1606C>T (p.Leu536=) | |
16 | g.28900798T>A | CA395411354 | ATP2A1 | c.1982T>A (p.Leu661Gln) c.1607T>A (p.Leu536Gln) | |
16 | g.28900798T>C | CA395411355 | ATP2A1 | c.1982T>C (p.Leu661Pro) c.1607T>C (p.Leu536Pro) | |
16 | g.28900798T>G | CA395411356 | ATP2A1 | c.1982T>G (p.Leu661Arg) c.1607T>G (p.Leu536Arg) | |
16 | g.28900799G>A | CA494874412 | ATP2A1 | c.1983G>A (p.Leu661=) c.1608G>A (p.Leu536=) | dbSNP |
16 | g.28900799G>C | CA494874413 | ATP2A1 | c.1983G>C (p.Leu661=) c.1608G>C (p.Leu536=) | |
16 | g.28900799G= | CA2215885133 | ATP2A1 | c.1983G= (p.Leu661=) c.1608G= (p.Leu536=) | |
16 | g.28900799G>T | CA494874414 | ATP2A1 | c.1983G>T (p.Leu661=) c.1608G>T (p.Leu536=) | |
16 | g.28900800C>A | CA395411357 | ATP2A1 | c.1984C>A (p.Pro662Thr) c.1609C>A (p.Pro537Thr) | |
16 | g.28900800C= | CA2215885138 | ATP2A1 | c.1984C= (p.Pro662=) c.1609C= (p.Pro537=) | |
16 | g.28900800C>G | CA395411358 | ATP2A1 | c.1984C>G (p.Pro662Ala) c.1609C>G (p.Pro537Ala) | |
16 | g.28900800C>T | CA395411359 | ATP2A1 | c.1984C>T (p.Pro662Ser) c.1609C>T (p.Pro537Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900803dup | CA2632539998 | ATP2A1 | c.1987dup (p.Leu663ProfsTer3) c.1612dup (p.Leu538ProfsTer3) | gnomAD v4 |
16 | g.28900801C>A | CA395411361 | ATP2A1 | c.1985C>A (p.Pro662His) c.1610C>A (p.Pro537His) | |
16 | g.28900801C= | CA2215885143 | ATP2A1 | c.1985C= (p.Pro662=) c.1610C= (p.Pro537=) | |
16 | g.28900801C>G | CA395411360 | ATP2A1 | c.1985C>G (p.Pro662Arg) c.1610C>G (p.Pro537Arg) | |
16 | g.28900801C>T | CA7987139 | ATP2A1 | c.1985C>T (p.Pro662Leu) c.1610C>T (p.Pro537Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900802C>A | CA494874415 | ATP2A1 | c.1986C>A (p.Pro662=) c.1611C>A (p.Pro537=) | |
16 | g.28900802C>G | CA494874416 | ATP2A1 | c.1986C>G (p.Pro662=) c.1611C>G (p.Pro537=) | |
16 | g.28900802C>T | CA494874417 | ATP2A1 | c.1986C>T (p.Pro662=) c.1611C>T (p.Pro537=) | |
16 | g.28900803C>A | CA395411362 | ATP2A1 | c.1987C>A (p.Leu663Met) c.1612C>A (p.Leu538Met) | |
16 | g.28900803C= | CA2215885153 | ATP2A1 | c.1987C= (p.Leu663=) c.1612C= (p.Leu538=) | |
16 | g.28900803C>G | CA7987140 | ATP2A1 | c.1987C>G (p.Leu663Val) c.1612C>G (p.Leu538Val) | dbSNP ExAC gnomAD v2 |
16 | g.28900803C>T | CA494874418 | ATP2A1 | c.1987C>T (p.Leu663=) c.1612C>T (p.Leu538=) | |
16 | g.28900804T>A | CA395411363 | ATP2A1 | c.1988T>A (p.Leu663Gln) c.1613T>A (p.Leu538Gln) | |
16 | g.28900804T>C | CA395411364 | ATP2A1 | c.1988T>C (p.Leu663Pro) c.1613T>C (p.Leu538Pro) | gnomAD v4 |
16 | g.28900804T>G | CA7987141 | ATP2A1 | c.1988T>G (p.Leu663Arg) c.1613T>G (p.Leu538Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900804T= | CA2215885160 | ATP2A1 | c.1988T= (p.Leu663=) c.1613T= (p.Leu538=) | |
16 | g.28900805G>A | CA494874419 | ATP2A1 | c.1989G>A (p.Leu663=) c.1614G>A (p.Leu538=) | |
16 | g.28900805G>C | CA494874420 | ATP2A1 | c.1989G>C (p.Leu663=) c.1614G>C (p.Leu538=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900805G= | CA2215885166 | ATP2A1 | c.1989G= (p.Leu663=) c.1614G= (p.Leu538=) | |
16 | g.28900805G>T | CA494874421 | ATP2A1 | c.1989G>T (p.Leu663=) c.1614G>T (p.Leu538=) | |
16 | g.28900806G>A | CA7987142 | ATP2A1 | c.1990G>A (p.Ala664Thr) c.1615G>A (p.Ala539Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900806G>C | CA395411366 | ATP2A1 | c.1990G>C (p.Ala664Pro) c.1615G>C (p.Ala539Pro) | |
16 | g.28900806G= | CA2215885174 | ATP2A1 | c.1990G= (p.Ala664=) c.1615G= (p.Ala539=) | |
16 | g.28900806G>T | CA395411365 | ATP2A1 | c.1990G>T (p.Ala664Ser) c.1615G>T (p.Ala539Ser) | |
16 | g.28900807C>A | CA395411367 | ATP2A1 | c.1991C>A (p.Ala664Asp) c.1616C>A (p.Ala539Asp) | |
16 | g.28900807C>G | CA395411368 | ATP2A1 | c.1991C>G (p.Ala664Gly) c.1616C>G (p.Ala539Gly) | |
16 | g.28900807C>T | CA395411369 | ATP2A1 | c.1991C>T (p.Ala664Val) c.1616C>T (p.Ala539Val) | |
16 | g.28900808T>A | CA494874422 | ATP2A1 | c.1992T>A (p.Ala664=) c.1617T>A (p.Ala539=) | |
16 | g.28900808T>C | CA494874423 | ATP2A1 | c.1992T>C (p.Ala664=) c.1617T>C (p.Ala539=) | dbSNP |
16 | g.28900808T>G | CA494874424 | ATP2A1 | c.1992T>G (p.Ala664=) c.1617T>G (p.Ala539=) | |
16 | g.28900808T= | CA2215885182 | ATP2A1 | c.1992T= (p.Ala664=) c.1617T= (p.Ala539=) | |
16 | g.28900809G>A | CA395411370 | ATP2A1 | c.1993G>A (p.Glu665Lys) c.1618G>A (p.Glu540Lys) | gnomAD v4 |
16 | g.28900809G>C | CA395411371 | ATP2A1 | c.1993G>C (p.Glu665Gln) c.1618G>C (p.Glu540Gln) | |
16 | g.28900809G>T | CA395411372 | ATP2A1 | c.1993G>T (p.Glu665Ter) c.1618G>T (p.Glu540Ter) | |
16 | g.28900810A>C | CA395411373 | ATP2A1 | c.1994A>C (p.Glu665Ala) c.1619A>C (p.Glu540Ala) | |
16 | g.28900810A>G | CA395411374 | ATP2A1 | c.1994A>G (p.Glu665Gly) c.1619A>G (p.Glu540Gly) | |
16 | g.28900810A>T | CA395411375 | ATP2A1 | c.1994A>T (p.Glu665Val) c.1619A>T (p.Glu540Val) | |
16 | g.28900811A= | CA2215885187 | ATP2A1 | c.1995A= (p.Glu665=) c.1620A= (p.Glu540=) | |
16 | g.28900811A>C | CA395411376 | ATP2A1 | c.1995A>C (p.Glu665Asp) c.1620A>C (p.Glu540Asp) | |
16 | g.28900811A>G | CA494874425 | ATP2A1 | c.1995A>G (p.Glu665=) c.1620A>G (p.Glu540=) | dbSNP |
16 | g.28900811A>T | CA395411377 | ATP2A1 | c.1995A>T (p.Glu665Asp) c.1620A>T (p.Glu540Asp) | |
16 | g.28900812C>A | CA395411379 | ATP2A1 | c.1996C>A (p.Gln666Lys) c.1621C>A (p.Gln541Lys) | |
16 | g.28900812C= | CA2215885191 | ATP2A1 | c.1996C= (p.Gln666=) c.1621C= (p.Gln541=) | |
16 | g.28900812C>G | CA395411380 | ATP2A1 | c.1996C>G (p.Gln666Glu) c.1621C>G (p.Gln541Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900812C>T | CA395411378 | ATP2A1 | c.1996C>T (p.Gln666Ter) c.1621C>T (p.Gln541Ter) |