Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900855A>C | CA395411463 | ATP2A1 | c.2039A>C (p.Glu680Ala) c.1664A>C (p.Glu555Ala) | |
16 | g.28900855A>G | CA395411464 | ATP2A1 | c.2039A>G (p.Glu680Gly) c.1664A>G (p.Glu555Gly) | |
16 | g.28900855A>T | CA395411465 | ATP2A1 | c.2039A>T (p.Glu680Val) c.1664A>T (p.Glu555Val) | COSMIC |
16 | g.28900856G>A | CA494874457 | ATP2A1 | c.2040G>A (p.Glu680=) c.1665G>A (p.Glu555=) | |
16 | g.28900856G>C | CA395411466 | ATP2A1 | c.2040G>C (p.Glu680Asp) c.1665G>C (p.Glu555Asp) | |
16 | g.28900856G= | CA2215885331 | ATP2A1 | c.2040G= (p.Glu680=) c.1665G= (p.Glu555=) | |
16 | g.28900856G>T | CA7987154 | ATP2A1 | c.2040G>T (p.Glu680Asp) c.1665G>T (p.Glu555Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900857C>A | CA395411467 | ATP2A1 | c.2041C>A (p.Pro681Thr) c.1666C>A (p.Pro556Thr) | |
16 | g.28900857C>G | CA395411468 | ATP2A1 | c.2041C>G (p.Pro681Ala) c.1666C>G (p.Pro556Ala) | gnomAD v4 |
16 | g.28900857C>T | CA395411469 | ATP2A1 | c.2041C>T (p.Pro681Ser) c.1666C>T (p.Pro556Ser) | |
16 | g.28900858C>A | CA395411470 | ATP2A1 | c.2042C>A (p.Pro681His) c.1667C>A (p.Pro556His) | |
16 | g.28900858C>G | CA395411471 | ATP2A1 | c.2042C>G (p.Pro681Arg) c.1667C>G (p.Pro556Arg) | |
16 | g.28900858C>T | CA395411472 | ATP2A1 | c.2042C>T (p.Pro681Leu) c.1667C>T (p.Pro556Leu) | |
16 | g.28900859C>A | CA494874458 | ATP2A1 | c.2043C>A (p.Pro681=) c.1668C>A (p.Pro556=) | |
16 | g.28900859C= | CA2215885334 | ATP2A1 | c.2043C= (p.Pro681=) c.1668C= (p.Pro556=) | |
16 | g.28900859C>G | CA494874459 | ATP2A1 | c.2043C>G (p.Pro681=) c.1668C>G (p.Pro556=) | dbSNP |
16 | g.28900859C>T | CA494874460 | ATP2A1 | c.2043C>T (p.Pro681=) c.1668C>T (p.Pro556=) | |
16 | g.28900860T>A | CA395411473 | ATP2A1 | c.2044T>A (p.Ser682Thr) c.1669T>A (p.Ser557Thr) | |
16 | g.28900860T>C | CA395411474 | ATP2A1 | c.2044T>C (p.Ser682Pro) c.1669T>C (p.Ser557Pro) | |
16 | g.28900860T>G | CA395411475 | ATP2A1 | c.2044T>G (p.Ser682Ala) c.1669T>G (p.Ser557Ala) | |
16 | g.28900861C>A | CA395411476 | ATP2A1 | c.2045C>A (p.Ser682Ter) c.1670C>A (p.Ser557Ter) | |
16 | g.28900861C= | CA2215885340 | ATP2A1 | c.2045C= (p.Ser682=) c.1670C= (p.Ser557=) | |
16 | g.28900861C>G | CA395411477 | ATP2A1 | c.2045C>G (p.Ser682Trp) c.1670C>G (p.Ser557Trp) | |
16 | g.28900861C>T | CA7987155 | ATP2A1 | c.2045C>T (p.Ser682Leu) c.1670C>T (p.Ser557Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900862G>A | CA7987156 | ATP2A1 | c.2046G>A (p.Ser682=) c.1671G>A (p.Ser557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900862G>C | CA494874261 | ATP2A1 | c.2046G>C (p.Ser682=) c.1671G>C (p.Ser557=) | dbSNP |
16 | g.28900862G= | CA2215885352 | ATP2A1 | c.2046G= (p.Ser682=) c.1671G= (p.Ser557=) | |
16 | g.28900862G>T | CA494874262 | ATP2A1 | c.2046G>T (p.Ser682=) c.1671G>T (p.Ser557=) | |
16 | g.28900863C>A | CA395411480 | ATP2A1 | c.2047C>A (p.His683Asn) c.1672C>A (p.His558Asn) | |
16 | g.28900863C>G | CA395411479 | ATP2A1 | c.2047C>G (p.His683Asp) c.1672C>G (p.His558Asp) | |
16 | g.28900863C>T | CA395411478 | ATP2A1 | c.2047C>T (p.His683Tyr) c.1672C>T (p.His558Tyr) | |
16 | g.28900864A>C | CA395411481 | ATP2A1 | c.2048A>C (p.His683Pro) c.1673A>C (p.His558Pro) | |
16 | g.28900864A>G | CA395411482 | ATP2A1 | c.2048A>G (p.His683Arg) c.1673A>G (p.His558Arg) | gnomAD v4 |
16 | g.28900864A>T | CA395411483 | ATP2A1 | c.2048A>T (p.His683Leu) c.1673A>T (p.His558Leu) | |
16 | g.28900865C>A | CA395411484 | ATP2A1 | c.2049C>A (p.His683Gln) c.1674C>A (p.His558Gln) | gnomAD v4 |
16 | g.28900865C>G | CA395411485 | ATP2A1 | c.2049C>G (p.His683Gln) c.1674C>G (p.His558Gln) | |
16 | g.28900865C>T | CA494874263 | ATP2A1 | c.2049C>T (p.His683=) c.1674C>T (p.His558=) | |
16 | g.28900866A= | CA2215885361 | ATP2A1 | c.2050A= (p.Lys684=) c.1675A= (p.Lys559=) | |
16 | g.28900866A>C | CA7987157 | ATP2A1 | c.2050A>C (p.Lys684Gln) c.1675A>C (p.Lys559Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900866A>G | CA395411486 | ATP2A1 | c.2050A>G (p.Lys684Glu) c.1675A>G (p.Lys559Glu) | gnomAD v4 |
16 | g.28900866A>T | CA395411487 | ATP2A1 | c.2050A>T (p.Lys684Ter) c.1675A>T (p.Lys559Ter) | |
16 | g.28900867A>C | CA395411488 | ATP2A1 | c.2051A>C (p.Lys684Thr) c.1676A>C (p.Lys559Thr) | |
16 | g.28900867A>G | CA395411489 | ATP2A1 | c.2051A>G (p.Lys684Arg) c.1676A>G (p.Lys559Arg) | |
16 | g.28900867A>T | CA395411490 | ATP2A1 | c.2051A>T (p.Lys684Met) c.1676A>T (p.Lys559Met) | |
16 | g.28900868G>A | CA494874264 | ATP2A1 | c.2052G>A (p.Lys684=) c.1677G>A (p.Lys559=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900868G>C | CA395411491 | ATP2A1 | c.2052G>C (p.Lys684Asn) c.1677G>C (p.Lys559Asn) | |
16 | g.28900868G= | CA2215885368 | ATP2A1 | c.2052G= (p.Lys684=) c.1677G= (p.Lys559=) | |
16 | g.28900868G>T | CA395411492 | ATP2A1 | c.2052G>T (p.Lys684Asn) c.1677G>T (p.Lys559Asn) | |
16 | g.28900869T>A | CA395411494 | ATP2A1 | c.2053T>A (p.Ser685Thr) c.1678T>A (p.Ser560Thr) | |
16 | g.28900869T>C | CA395411495 | ATP2A1 | c.2053T>C (p.Ser685Pro) c.1678T>C (p.Ser560Pro) | |
16 | g.28900869T>G | CA395411493 | ATP2A1 | c.2053T>G (p.Ser685Ala) c.1678T>G (p.Ser560Ala) | |
16 | g.28900870C>A | CA395411496 | ATP2A1 | c.2054C>A (p.Ser685Tyr) c.1679C>A (p.Ser560Tyr) | |
16 | g.28900870C>G | CA395411498 | ATP2A1 | c.2054C>G (p.Ser685Cys) c.1679C>G (p.Ser560Cys) | gnomAD v4 |
16 | g.28900870C>T | CA395411497 | ATP2A1 | c.2054C>T (p.Ser685Phe) c.1679C>T (p.Ser560Phe) | COSMIC |
16 | g.28900871del | CA2632540102 | ATP2A1 | c.2055del (p.Lys686ArgfsTer15) c.1680del (p.Lys561ArgfsTer15) | gnomAD v4 |
16 | g.28900871C>A | CA494874265 | ATP2A1 | c.2055C>A (p.Ser685=) c.1680C>A (p.Ser560=) | |
16 | g.28900871C= | CA2215885374 | ATP2A1 | c.2055C= (p.Ser685=) c.1680C= (p.Ser560=) | |
16 | g.28900871C>G | CA494874266 | ATP2A1 | c.2055C>G (p.Ser685=) c.1680C>G (p.Ser560=) | dbSNP |
16 | g.28900871C>T | CA494874267 | ATP2A1 | c.2055C>T (p.Ser685=) c.1680C>T (p.Ser560=) | |
16 | g.28900872A= | CA2215885407 | ATP2A1 | c.2056A= (p.Lys686=) c.1681A= (p.Lys561=) | |
16 | g.28900872A>C | CA395411499 | ATP2A1 | c.2056A>C (p.Lys686Gln) c.1681A>C (p.Lys561Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900872A>G | CA395411501 | ATP2A1 | c.2056A>G (p.Lys686Glu) c.1681A>G (p.Lys561Glu) | gnomAD v4 |
16 | g.28900872A>T | CA395411500 | ATP2A1 | c.2056A>T (p.Lys686Ter) c.1681A>T (p.Lys561Ter) | |
16 | g.28900872_28900873del | CA2573152281 | ATP2A1 | c.2056_2057del (p.Lys686AspfsTer10) c.1681_1682del (p.Lys561AspfsTer10) | ClinVar dbSNP |
16 | g.28900873A>C | CA395411502 | ATP2A1 | c.2057A>C (p.Lys686Thr) c.1682A>C (p.Lys561Thr) | gnomAD v4 |
16 | g.28900873A>G | CA395411503 | ATP2A1 | c.2057A>G (p.Lys686Arg) c.1682A>G (p.Lys561Arg) | |
16 | g.28900873A>T | CA395411504 | ATP2A1 | c.2057A>T (p.Lys686Met) c.1682A>T (p.Lys561Met) | |
16 | g.28900874G>A | CA494874268 | ATP2A1 | c.2058G>A (p.Lys686=) c.1683G>A (p.Lys561=) | |
16 | g.28900874G>C | CA395411505 | ATP2A1 | c.2058G>C (p.Lys686Asn) c.1683G>C (p.Lys561Asn) | |
16 | g.28900874G>T | CA395411506 | ATP2A1 | c.2058G>T (p.Lys686Asn) c.1683G>T (p.Lys561Asn) | |
16 | g.28900875A= | CA2215885413 | ATP2A1 | c.2059A= (p.Ile687=) c.1684A= (p.Ile562=) | |
16 | g.28900875A>C | CA395411507 | ATP2A1 | c.2059A>C (p.Ile687Leu) c.1684A>C (p.Ile562Leu) | |
16 | g.28900875A>G | CA395411508 | ATP2A1 | c.2059A>G (p.Ile687Val) c.1684A>G (p.Ile562Val) | |
16 | g.28900875A>T | CA395411509 | ATP2A1 | c.2059A>T (p.Ile687Phe) c.1684A>T (p.Ile562Phe) | dbSNP |
16 | g.28900876T>A | CA395411510 | ATP2A1 | c.2060T>A (p.Ile687Asn) c.1685T>A (p.Ile562Asn) | |
16 | g.28900876T>C | CA7987158 | ATP2A1 | c.2060T>C (p.Ile687Thr) c.1685T>C (p.Ile562Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900876T>G | CA395411511 | ATP2A1 | c.2060T>G (p.Ile687Ser) c.1685T>G (p.Ile562Ser) | |
16 | g.28900876T= | CA2215885421 | ATP2A1 | c.2060T= (p.Ile687=) c.1685T= (p.Ile562=) | |
16 | g.28900877T>A | CA494874269 | ATP2A1 | c.2061T>A (p.Ile687=) c.1686T>A (p.Ile562=) | |
16 | g.28900877T>C | CA494874270 | ATP2A1 | c.2061T>C (p.Ile687=) c.1686T>C (p.Ile562=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900877T>G | CA395411512 | ATP2A1 | c.2061T>G (p.Ile687Met) c.1686T>G (p.Ile562Met) | |
16 | g.28900877T= | CA2215885441 | ATP2A1 | c.2061T= (p.Ile687=) c.1686T= (p.Ile562=) | |
16 | g.28900877_28900878delinsTG | CA2215885444 | ATP2A1 | c.2061_2062delinsTG (p.Ile687=) c.1686_1687delinsTG (p.Ile562=) | |
16 | g.28900878del | CA919685943 | ATP2A1 | c.2062del (p.Val688TrpfsTer13) c.1687del (p.Val563TrpfsTer13) | dbSNP |
16 | g.28900878G>A | CA395411515 | ATP2A1 | c.2062G>A (p.Val688Met) c.1687G>A (p.Val563Met) | dbSNP |
16 | g.28900878G>C | CA395411513 | ATP2A1 | c.2062G>C (p.Val688Leu) c.1687G>C (p.Val563Leu) | |
16 | g.28900878G= | CA2215885455 | ATP2A1 | c.2062G= (p.Val688=) c.1687G= (p.Val563=) | |
16 | g.28900878G>T | CA395411514 | ATP2A1 | c.2062G>T (p.Val688Leu) c.1687G>T (p.Val563Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900879T>A | CA395411516 | ATP2A1 | c.2063T>A (p.Val688Glu) c.1688T>A (p.Val563Glu) | |
16 | g.28900879T>C | CA395411517 | ATP2A1 | c.2063T>C (p.Val688Ala) c.1688T>C (p.Val563Ala) | |
16 | g.28900879T>G | CA395411518 | ATP2A1 | c.2063T>G (p.Val688Gly) c.1688T>G (p.Val563Gly) | |
16 | g.28900879_28900880delinsTG | CA2215885458 | ATP2A1 | c.2063_2064delinsTG (p.Val688=) c.1688_1689delinsTG (p.Val563=) | |
16 | g.28900880G>A | CA494874271 | ATP2A1 | c.2064G>A (p.Val688=) c.1689G>A (p.Val563=) | gnomAD v4 |
16 | g.28900880G>C | CA494874272 | ATP2A1 | c.2064G>C (p.Val688=) c.1689G>C (p.Val563=) | |
16 | g.28900880G>T | CA494874273 | ATP2A1 | c.2064G>T (p.Val688=) c.1689G>T (p.Val563=) | |
16 | g.28900881del | CA7987159 | ATP2A1 | c.2065del (p.Glu689SerfsTer12) c.1690del (p.Glu564SerfsTer12) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900881G>A | CA395411519 | ATP2A1 | c.2065G>A (p.Glu689Lys) c.1690G>A (p.Glu564Lys) | |
16 | g.28900881G>C | CA395411520 | ATP2A1 | c.2065G>C (p.Glu689Gln) c.1690G>C (p.Glu564Gln) | |
16 | g.28900881G>T | CA395411521 | ATP2A1 | c.2065G>T (p.Glu689Ter) c.1690G>T (p.Glu564Ter) | |
16 | g.28900882A>C | CA395411522 | ATP2A1 | c.2066A>C (p.Glu689Ala) c.1691A>C (p.Glu564Ala) | |
16 | g.28900882A>G | CA395411523 | ATP2A1 | c.2066A>G (p.Glu689Gly) c.1691A>G (p.Glu564Gly) | |
16 | g.28900882A>T | CA395411524 | ATP2A1 | c.2066A>T (p.Glu689Val) c.1691A>T (p.Glu564Val) | |
16 | g.28900883G>A | CA494874274 | ATP2A1 | c.2067G>A (p.Glu689=) c.1692G>A (p.Glu564=) | |
16 | g.28900883G>C | CA395411525 | ATP2A1 | c.2067G>C (p.Glu689Asp) c.1692G>C (p.Glu564Asp) | |
16 | g.28900883G>T | CA395411526 | ATP2A1 | c.2067G>T (p.Glu689Asp) c.1692G>T (p.Glu564Asp) | |
16 | g.28900884T>A | CA395411527 | ATP2A1 | c.2068T>A (p.Tyr690Asn) c.1693T>A (p.Tyr565Asn) | dbSNP |
16 | g.28900884T>C | CA395411528 | ATP2A1 | c.2068T>C (p.Tyr690His) c.1693T>C (p.Tyr565His) | |
16 | g.28900884T>G | CA395411529 | ATP2A1 | c.2068T>G (p.Tyr690Asp) c.1693T>G (p.Tyr565Asp) | |
16 | g.28900884T= | CA2215885459 | ATP2A1 | c.2068T= (p.Tyr690=) c.1693T= (p.Tyr565=) | |
16 | g.28900885A= | CA2215885460 | ATP2A1 | c.2069A= (p.Tyr690=) c.1694A= (p.Tyr565=) | |
16 | g.28900885A>C | CA395411530 | ATP2A1 | c.2069A>C (p.Tyr690Ser) c.1694A>C (p.Tyr565Ser) | |
16 | g.28900885A>G | CA395411531 | ATP2A1 | c.2069A>G (p.Tyr690Cys) c.1694A>G (p.Tyr565Cys) | gnomAD v4 |
16 | g.28900885A>T | CA395411532 | ATP2A1 | c.2069A>T (p.Tyr690Phe) c.1694A>T (p.Tyr565Phe) | dbSNP |
16 | g.28900886C>A | CA395411533 | ATP2A1 | c.2070C>A (p.Tyr690Ter) c.1695C>A (p.Tyr565Ter) | |
16 | g.28900886C= | CA2215885461 | ATP2A1 | c.2070C= (p.Tyr690=) c.1695C= (p.Tyr565=) | |
16 | g.28900886C>G | CA395411534 | ATP2A1 | c.2070C>G (p.Tyr690Ter) c.1695C>G (p.Tyr565Ter) | |
16 | g.28900886C>T | CA494874275 | ATP2A1 | c.2070C>T (p.Tyr690=) c.1695C>T (p.Tyr565=) | dbSNP gnomAD v4 |
16 | g.28900887C>A | CA395411535 | ATP2A1 | c.2071C>A (p.Leu691Met) c.1696C>A (p.Leu566Met) | |
16 | g.28900887C= | CA2215885462 | ATP2A1 | c.2071C= (p.Leu691=) c.1696C= (p.Leu566=) | |
16 | g.28900887C>G | CA395411536 | ATP2A1 | c.2071C>G (p.Leu691Val) c.1696C>G (p.Leu566Val) | |
16 | g.28900887C>T | CA494874276 | ATP2A1 | c.2071C>T (p.Leu691=) c.1696C>T (p.Leu566=) | dbSNP |
16 | g.28900888T>A | CA395411537 | ATP2A1 | c.2072T>A (p.Leu691Gln) c.1697T>A (p.Leu566Gln) | |
16 | g.28900888T>C | CA395411538 | ATP2A1 | c.2072T>C (p.Leu691Pro) c.1697T>C (p.Leu566Pro) | |
16 | g.28900888T>G | CA395411539 | ATP2A1 | c.2072T>G (p.Leu691Arg) c.1697T>G (p.Leu566Arg) | |
16 | g.28900889G>A | CA494874277 | ATP2A1 | c.2073G>A (p.Leu691=) c.1698G>A (p.Leu566=) | ClinVar dbSNP |
16 | g.28900889G>C | CA494874278 | ATP2A1 | c.2073G>C (p.Leu691=) c.1698G>C (p.Leu566=) | |
16 | g.28900889G= | CA2215885463 | ATP2A1 | c.2073G= (p.Leu691=) c.1698G= (p.Leu566=) | |
16 | g.28900889G>T | CA494874279 | ATP2A1 | c.2073G>T (p.Leu691=) c.1698G>T (p.Leu566=) | |
16 | g.28900890C>A | CA395411542 | ATP2A1 | c.2074C>A (p.Gln692Lys) c.1699C>A (p.Gln567Lys) | |
16 | g.28900890C>G | CA395411540 | ATP2A1 | c.2074C>G (p.Gln692Glu) c.1699C>G (p.Gln567Glu) | |
16 | g.28900890C>T | CA395411541 | ATP2A1 | c.2074C>T (p.Gln692Ter) c.1699C>T (p.Gln567Ter) | |
16 | g.28900891A= | CA2215885464 | ATP2A1 | c.2075A= (p.Gln692=) c.1700A= (p.Gln567=) | |
16 | g.28900891A>C | CA395411543 | ATP2A1 | c.2075A>C (p.Gln692Pro) c.1700A>C (p.Gln567Pro) | |
16 | g.28900891A>G | CA395411544 | ATP2A1 | c.2075A>G (p.Gln692Arg) c.1700A>G (p.Gln567Arg) | ClinVar dbSNP gnomAD v2 |
16 | g.28900891A>T | CA395411545 | ATP2A1 | c.2075A>T (p.Gln692Leu) c.1700A>T (p.Gln567Leu) | |
16 | g.28900892G>A | CA494874280 | ATP2A1 | c.2076G>A (p.Gln692=) c.1701G>A (p.Gln567=) | |
16 | g.28900892G>C | CA395411546 | ATP2A1 | c.2076G>C (p.Gln692His) c.1701G>C (p.Gln567His) | |
16 | g.28900892G>T | CA395411547 | ATP2A1 | c.2076G>T (p.Gln692His) c.1701G>T (p.Gln567His) | |
16 | g.28900893T>A | CA395411548 | ATP2A1 | c.2077T>A (p.Ser693Thr) c.1702T>A (p.Ser568Thr) | |
16 | g.28900893T>C | CA395411549 | ATP2A1 | c.2077T>C (p.Ser693Pro) c.1702T>C (p.Ser568Pro) | |
16 | g.28900893T>G | CA7987160 | ATP2A1 | c.2077T>G (p.Ser693Ala) c.1702T>G (p.Ser568Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900893T= | CA2215885465 | ATP2A1 | c.2077T= (p.Ser693=) c.1702T= (p.Ser568=) | |
16 | g.28900894C>A | CA395411550 | ATP2A1 | c.2078C>A (p.Ser693Tyr) c.1703C>A (p.Ser568Tyr) | gnomAD v4 |
16 | g.28900894C>G | CA395411551 | ATP2A1 | c.2078C>G (p.Ser693Cys) c.1703C>G (p.Ser568Cys) | |
16 | g.28900894C>T | CA395411552 | ATP2A1 | c.2078C>T (p.Ser693Phe) c.1703C>T (p.Ser568Phe) | |
16 | g.28900895C>A | CA494874281 | ATP2A1 | c.2079C>A (p.Ser693=) c.1704C>A (p.Ser568=) | |
16 | g.28900895C>G | CA494874282 | ATP2A1 | c.2079C>G (p.Ser693=) c.1704C>G (p.Ser568=) | |
16 | g.28900895C>T | CA494874283 | ATP2A1 | c.2079C>T (p.Ser693=) c.1704C>T (p.Ser568=) | gnomAD v4 |
16 | g.28900896T>A | CA395411555 | ATP2A1 | c.2080T>A (p.Tyr694Asn) c.1705T>A (p.Tyr569Asn) | |
16 | g.28900896T>C | CA395411554 | ATP2A1 | c.2080T>C (p.Tyr694His) c.1705T>C (p.Tyr569His) | |
16 | g.28900896T>G | CA395411553 | ATP2A1 | c.2080T>G (p.Tyr694Asp) c.1705T>G (p.Tyr569Asp) | |
16 | g.28900897A= | CA2215885466 | ATP2A1 | c.2081A= (p.Tyr694=) c.1706A= (p.Tyr569=) | |
16 | g.28900897A>C | CA395411556 | ATP2A1 | c.2081A>C (p.Tyr694Ser) c.1706A>C (p.Tyr569Ser) | |
16 | g.28900897A>G | CA395411558 | ATP2A1 | c.2081A>G (p.Tyr694Cys) c.1706A>G (p.Tyr569Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.28900897A>T | CA395411557 | ATP2A1 | c.2081A>T (p.Tyr694Phe) c.1706A>T (p.Tyr569Phe) | |
16 | g.28900898C>A | CA395411559 | ATP2A1 | c.2082C>A (p.Tyr694Ter) c.1707C>A (p.Tyr569Ter) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900898C= | CA2215885467 | ATP2A1 | c.2082C= (p.Tyr694=) c.1707C= (p.Tyr569=) | |
16 | g.28900898C>G | CA395411560 | ATP2A1 | c.2082C>G (p.Tyr694Ter) c.1707C>G (p.Tyr569Ter) | |
16 | g.28900898C>T | CA7987161 | ATP2A1 | c.2082C>T (p.Tyr694=) c.1707C>T (p.Tyr569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900899G>A | CA279240525 | ATP2A1 | c.2083G>A (p.Asp695Asn) c.1708G>A (p.Asp570Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900899G>C | CA395411561 | ATP2A1 | c.2083G>C (p.Asp695His) c.1708G>C (p.Asp570His) | |
16 | g.28900899G= | CA2215885468 | ATP2A1 | c.2083G= (p.Asp695=) c.1708G= (p.Asp570=) | |
16 | g.28900899G>T | CA395411562 | ATP2A1 | c.2083G>T (p.Asp695Tyr) c.1708G>T (p.Asp570Tyr) | |
16 | g.28900900A>C | CA395411563 | ATP2A1 | c.2084A>C (p.Asp695Ala) c.1709A>C (p.Asp570Ala) | |
16 | g.28900900A>G | CA395411564 | ATP2A1 | c.2084A>G (p.Asp695Gly) c.1709A>G (p.Asp570Gly) | |
16 | g.28900900A>T | CA395411565 | ATP2A1 | c.2084A>T (p.Asp695Val) c.1709A>T (p.Asp570Val) | |
16 | g.28900901T>A | CA395411566 | ATP2A1 | c.2085T>A (p.Asp695Glu) c.1710T>A (p.Asp570Glu) | |
16 | g.28900901T>C | CA494874284 | ATP2A1 | c.2085T>C (p.Asp695=) c.1710T>C (p.Asp570=) | |
16 | g.28900901T>G | CA395411567 | ATP2A1 | c.2085T>G (p.Asp695Glu) c.1710T>G (p.Asp570Glu) | gnomAD v4 |
16 | g.28900902G>A | CA395411570 | ATP2A1 | c.2086G>A (p.Glu696Lys) c.1711G>A (p.Glu571Lys) | gnomAD v4 |
16 | g.28900902G>C | CA395411569 | ATP2A1 | c.2086G>C (p.Glu696Gln) c.1711G>C (p.Glu571Gln) | |
16 | g.28900902G>T | CA395411568 | ATP2A1 | c.2086G>T (p.Glu696Ter) c.1711G>T (p.Glu571Ter) | |
16 | g.28900903A>C | CA395411571 | ATP2A1 | c.2087A>C (p.Glu696Ala) c.1712A>C (p.Glu571Ala) | |
16 | g.28900903A>G | CA395411572 | ATP2A1 | c.2087A>G (p.Glu696Gly) c.1712A>G (p.Glu571Gly) | |
16 | g.28900903A>T | CA395411573 | ATP2A1 | c.2087A>T (p.Glu696Val) c.1712A>T (p.Glu571Val) | |
16 | g.28900904G>A | CA279240526 | ATP2A1 | c.2088G>A (p.Glu696=) c.1713G>A (p.Glu571=) | dbSNP |
16 | g.28900904G>C | CA395411574 | ATP2A1 | c.2088G>C (p.Glu696Asp) c.1713G>C (p.Glu571Asp) | |
16 | g.28900904G= | CA2215885469 | ATP2A1 | c.2088G= (p.Glu696=) c.1713G= (p.Glu571=) | |
16 | g.28900904G>T | CA395411575 | ATP2A1 | c.2088G>T (p.Glu696Asp) c.1713G>T (p.Glu571Asp) | |
16 | g.28900905A>C | CA395411576 | ATP2A1 | c.2089A>C (p.Ile697Leu) c.1714A>C (p.Ile572Leu) | COSMIC |
16 | g.28900905A>G | CA395411577 | ATP2A1 | c.2089A>G (p.Ile697Val) c.1714A>G (p.Ile572Val) | ClinVar |
16 | g.28900905A>T | CA395411578 | ATP2A1 | c.2089A>T (p.Ile697Phe) c.1714A>T (p.Ile572Phe) | |
16 | g.28900906T>A | CA395411579 | ATP2A1 | c.2090T>A (p.Ile697Asn) c.1715T>A (p.Ile572Asn) | |
16 | g.28900906T>C | CA395411581 | ATP2A1 | c.2090T>C (p.Ile697Thr) c.1715T>C (p.Ile572Thr) | |
16 | g.28900906T>G | CA395411584 | ATP2A1 | c.2090T>G (p.Ile697Ser) c.1715T>G (p.Ile572Ser) | |
16 | g.28900907C>A | CA494874285 | ATP2A1 | c.2091C>A (p.Ile697=) c.1716C>A (p.Ile572=) | |
16 | g.28900907C= | CA2215885472 | ATP2A1 | c.2091C= (p.Ile697=) c.1716C= (p.Ile572=) | |
16 | g.28900907C>G | CA10643416 | ATP2A1 | c.2091C>G (p.Ile697Met) c.1716C>G (p.Ile572Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900907C>T | CA494874286 | ATP2A1 | c.2091C>T (p.Ile697=) c.1716C>T (p.Ile572=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900908A>C | CA395411589 | ATP2A1 | c.2092A>C (p.Thr698Pro) c.1717A>C (p.Thr573Pro) | gnomAD v4 |
16 | g.28900908A>G | CA395411588 | ATP2A1 | c.2092A>G (p.Thr698Ala) c.1717A>G (p.Thr573Ala) | gnomAD v4 |
16 | g.28900908A>T | CA395411586 | ATP2A1 | c.2092A>T (p.Thr698Ser) c.1717A>T (p.Thr573Ser) | |
16 | g.28900909C>A | CA395411591 | ATP2A1 | c.2093C>A (p.Thr698Lys) c.1718C>A (p.Thr573Lys) | |
16 | g.28900909C>G | CA395411593 | ATP2A1 | c.2093C>G (p.Thr698Arg) c.1718C>G (p.Thr573Arg) | |
16 | g.28900909C>T | CA395411595 | ATP2A1 | c.2093C>T (p.Thr698Ile) c.1718C>T (p.Thr573Ile) | |
16 | g.28900910A>C | CA494874287 | ATP2A1 | c.2094A>C (p.Thr698=) c.1719A>C (p.Thr573=) | |
16 | g.28900910A>G | CA494874288 | ATP2A1 | c.2094A>G (p.Thr698=) c.1719A>G (p.Thr573=) | gnomAD v4 |
16 | g.28900910A>T | CA494874289 | ATP2A1 | c.2094A>T (p.Thr698=) c.1719A>T (p.Thr573=) | |
16 | g.28900911G>A | CA395411597 | ATP2A1 | c.2095G>A (p.Ala699Thr) c.1720G>A (p.Ala574Thr) | |
16 | g.28900911G>C | CA395411599 | ATP2A1 | c.2095G>C (p.Ala699Pro) c.1720G>C (p.Ala574Pro) | |
16 | g.28900911G>T | CA395411601 | ATP2A1 | c.2095G>T (p.Ala699Ser) c.1720G>T (p.Ala574Ser) | gnomAD v4 |
16 | g.28900912C>A | CA395411604 | ATP2A1 | c.2096C>A (p.Ala699Asp) c.1721C>A (p.Ala574Asp) | |
16 | g.28900912C>G | CA395411606 | ATP2A1 | c.2096C>G (p.Ala699Gly) c.1721C>G (p.Ala574Gly) | |
16 | g.28900912C>T | CA395411608 | ATP2A1 | c.2096C>T (p.Ala699Val) c.1721C>T (p.Ala574Val) | |
16 | g.28900913C>A | CA494874290 | ATP2A1 | c.2097C>A (p.Ala699=) c.1722C>A (p.Ala574=) | |
16 | g.28900913C>G | CA494874292 | ATP2A1 | c.2097C>G (p.Ala699=) c.1722C>G (p.Ala574=) | |
16 | g.28900913C>T | CA494874291 | ATP2A1 | c.2097C>T (p.Ala699=) c.1722C>T (p.Ala574=) | |
16 | g.28900914A= | CA2215885479 | ATP2A1 | c.2098A= (p.Met700=) c.1723A= (p.Met575=) | |
16 | g.28900914A>C | CA395411610 | ATP2A1 | c.2098A>C (p.Met700Leu) c.1723A>C (p.Met575Leu) | |
16 | g.28900914A>G | CA7987162 | ATP2A1 | c.2098A>G (p.Met700Val) c.1723A>G (p.Met575Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900914A>T | CA395411612 | ATP2A1 | c.2098A>T (p.Met700Leu) c.1723A>T (p.Met575Leu) | |
16 | g.28900915T>A | CA395411618 | ATP2A1 | c.2099T>A (p.Met700Lys) c.1724T>A (p.Met575Lys) | |
16 | g.28900915T>C | CA395411617 | ATP2A1 | c.2099T>C (p.Met700Thr) c.1724T>C (p.Met575Thr) | gnomAD v4 |
16 | g.28900915T>G | CA395411615 | ATP2A1 | c.2099T>G (p.Met700Arg) c.1724T>G (p.Met575Arg) | |
16 | g.28900916G>A | CA395411621 | ATP2A1 | c.2100G>A (p.Met700Ile) c.1725G>A (p.Met575Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900916G>C | CA395411622 | ATP2A1 | c.2100G>C (p.Met700Ile) c.1725G>C (p.Met575Ile) | |
16 | g.28900916G= | CA2215885482 | ATP2A1 | c.2100G= (p.Met700=) c.1725G= (p.Met575=) | |
16 | g.28900916G>T | CA395411625 | ATP2A1 | c.2100G>T (p.Met700Ile) c.1725G>T (p.Met575Ile) | |
16 | g.28900917G>A | CA395411627 | ATP2A1 | c.2100+1G>A (n.2100+1G>A) c.1725+1G>A (n.1725+1G>A) | gnomAD v4 |
16 | g.28900917G>C | CA395411628 | ATP2A1 | c.2100+1G>C (n.2100+1G>C) c.1725+1G>C (n.1725+1G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900917G= | CA2215885488 | ATP2A1 | c.2100+1G= (n.2100+1G=) c.1725+1G= (n.1725+1G=) | |
16 | g.28900917G>T | CA395411631 | ATP2A1 | c.2100+1G>T (n.2100+1G>T) c.1725+1G>T (n.1725+1G>T) | |
16 | g.28900918T>A | CA395411632 | ATP2A1 | c.2100+2T>A (n.2100+2T>A) c.1725+2T>A (n.1725+2T>A) | |
16 | g.28900918T>C | CA395411633 | ATP2A1 | c.2100+2T>C (n.2100+2T>C) c.1725+2T>C (n.1725+2T>C) | |
16 | g.28900918T>G | CA395411635 | ATP2A1 | c.2100+2T>G (n.2100+2T>G) c.1725+2T>G (n.1725+2T>G) | |
16 | g.28900920A= | CA2215885492 | ATP2A1 | c.2100+4A= (n.2100+4A=) c.1725+4A= (n.1725+4A=) | |
16 | g.28900920A>C | CA976148062 | ATP2A1 | c.2100+4A>C (n.2100+4A>C) c.1725+4A>C (n.1725+4A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900925del | CA2575960522 | ATP2A1 | c.2100+9del (n.2100+9del) c.1725+9del (n.1725+9del) | |
16 | g.28900925G>A | CA7987163 | ATP2A1 | c.2100+9G>A (n.2100+9G>A) c.1725+9G>A (n.1725+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900925G>C | CA2731885701 | ATP2A1 | c.2100+9G>C (n.2100+9G>C) c.1725+9G>C (n.1725+9G>C) | dbSNP |
16 | g.28900925G= | CA2215885495 | ATP2A1 | c.2100+9G= (n.2100+9G=) c.1725+9G= (n.1725+9G=) | |
16 | g.28900926C>T | CA2632540142 | ATP2A1 | c.2100+10C>T (n.2100+10C>T) c.1725+10C>T (n.1725+10C>T) | gnomAD v4 |
16 | g.28900928dup | CA2632540143 | ATP2A1 | c.2100+12dup (n.2100+12dup) c.1725+12dup (n.1725+12dup) | gnomAD v4 |
16 | g.28900928C>A | CA2573152282 | ATP2A1 | c.2100+12C>A (n.2100+12C>A) c.1725+12C>A (n.1725+12C>A) | ClinVar dbSNP |
16 | g.28900928C>T | CA2632540144 | ATP2A1 | c.2100+12C>T (n.2100+12C>T) c.1725+12C>T (n.1725+12C>T) | gnomAD v4 |
16 | g.28900929A= | CA2215885503 | ATP2A1 | c.2100+13A= (n.2100+13A=) c.1725+13A= (n.1725+13A=) | |
16 | g.28900929A>G | CA2215885506 | ATP2A1 | c.2100+13A>G (n.2100+13A>G) c.1725+13A>G (n.1725+13A>G) | dbSNP |
16 | g.28900929_28900930delinsAG | CA2215885499 | ATP2A1 | c.2100+13_2100+14delinsAG (n.2100+13_2100+14delinsAG) c.1725+13_1725+14delinsAG (n.1725+13_1725+14delinsAG) | |
16 | g.28900930G>A | CA7987165 | ATP2A1 | c.2100+14G>A (n.2100+14G>A) c.1725+14G>A (n.1725+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900930G= | CA2215885511 | ATP2A1 | c.2100+14G= (n.2100+14G=) c.1725+14G= (n.1725+14G=) | |
16 | g.28900931del | CA7987164 | ATP2A1 | c.2100+15del (n.2100+15del) c.1725+15del (n.1725+15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900930_28900935del | CA2632540148 | ATP2A1 | c.2100+14_2100+19del (n.2100+14_2100+19del) c.1725+14_1725+19del (n.1725+14_1725+19del) | gnomAD v4 |
16 | g.28900931G>A | CA2215885515 | ATP2A1 | c.2100+15G>A (n.2100+15G>A) c.1725+15G>A (n.1725+15G>A) | dbSNP |
16 | g.28900931G= | CA2215885512 | ATP2A1 | c.2100+15G= (n.2100+15G=) c.1725+15G= (n.1725+15G=) | |
16 | g.28900932C>A | CA7987166 | ATP2A1 | c.2100+16C>A (n.2100+16C>A) c.1725+16C>A (n.1725+16C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900932C= | CA2215885517 | ATP2A1 | c.2100+16C= (n.2100+16C=) c.1725+16C= (n.1725+16C=) | |
16 | g.28900933A>C | CA2632540152 | ATP2A1 | c.2100+17A>C (n.2100+17A>C) c.1725+17A>C (n.1725+17A>C) | gnomAD v4 |
16 | g.28900934G>A | CA2632540153 | ATP2A1 | c.2100+18G>A (n.2100+18G>A) c.1725+18G>A (n.1725+18G>A) | gnomAD v4 |
16 | g.28900936T>C | CA2632540156 | ATP2A1 | c.2100+20T>C (n.2100+20T>C) c.1725+20T>C (n.1725+20T>C) | gnomAD v4 |
16 | g.28900937G>A | CA622162496 | ATP2A1 | c.2100+21G>A (n.2100+21G>A) c.1725+21G>A (n.1725+21G>A) | dbSNP gnomAD v2 |
16 | g.28900937G= | CA2215885519 | ATP2A1 | c.2100+21G= (n.2100+21G=) c.1725+21G= (n.1725+21G=) | |
16 | g.28900937_28900941del | CA2632540157 | ATP2A1 | c.2100+21_2100+25del (n.2100+21_2100+25del) c.1725+21_1725+25del (n.1725+21_1725+25del) | gnomAD v4 |
16 | g.28900938C= | CA2215885523 | ATP2A1 | c.2100+22C= (n.2100+22C=) c.1725+22C= (n.1725+22C=) | |
16 | g.28900938C>T | CA7987167 | ATP2A1 | c.2100+22C>T (n.2100+22C>T) c.1725+22C>T (n.1725+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900939A= | CA2215885526 | ATP2A1 | c.2100+23A= (n.2100+23A=) c.1725+23A= (n.1725+23A=) | |
16 | g.28900939A>C | CA2215885527 | ATP2A1 | c.2100+23A>C (n.2100+23A>C) c.1725+23A>C (n.1725+23A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900939A>G | CA2632540159 | ATP2A1 | c.2100+23A>G (n.2100+23A>G) c.1725+23A>G (n.1725+23A>G) | gnomAD v4 |
16 | g.28900942C= | CA2215885530 | ATP2A1 | c.2100+26C= (n.2100+26C=) c.1725+26C= (n.1725+26C=) | |
16 | g.28900942C>G | CA2575960523 | ATP2A1 | c.2100+26C>G (n.2100+26C>G) c.1725+26C>G (n.1725+26C>G) | gnomAD v4 |
16 | g.28900942C>T | CA622162497 | ATP2A1 | c.2100+26C>T (n.2100+26C>T) c.1725+26C>T (n.1725+26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900943T>A | CA2632540163 | ATP2A1 | c.2100+27T>A (n.2100+27T>A) c.1725+27T>A (n.1725+27T>A) | gnomAD v4 |
16 | g.28900943T>C | CA2632540164 | ATP2A1 | c.2100+27T>C (n.2100+27T>C) c.1725+27T>C (n.1725+27T>C) | gnomAD v4 |
16 | g.28900945A= | CA2215885536 | ATP2A1 | c.2100+29A= (n.2100+29A=) c.1725+29A= (n.1725+29A=) | |
16 | g.28900945A>C | CA976148071 | ATP2A1 | c.2100+29A>C (n.2100+29A>C) c.1725+29A>C (n.1725+29A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900945_28900947delinsAGT | CA2215885539 | ATP2A1 | c.2100+29_2100+31delinsAGT (n.2100+29_2100+31delinsAGT) c.1725+29_1725+31delinsAGT (n.1725+29_1725+31delinsAGT) | |
16 | g.28900948_28900949del | CA2215885544 | ATP2A1 | c.2100+32_2100+33del (n.2100+32_2100+33del) c.1725+32_1725+33del (n.1725+32_1725+33del) | dbSNP |
16 | g.28900947T>A | CA2215885549 | ATP2A1 | c.2100+31T>A (n.2100+31T>A) c.1725+31T>A (n.1725+31T>A) | dbSNP |
16 | g.28900947T>C | CA7987168 | ATP2A1 | c.2100+31T>C (n.2100+31T>C) c.1725+31T>C (n.1725+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900947T= | CA2215885547 | ATP2A1 | c.2100+31T= (n.2100+31T=) c.1725+31T= (n.1725+31T=) | |
16 | g.28900949T>C | CA279240579 | ATP2A1 | c.2100+33T>C (n.2100+33T>C) c.1725+33T>C (n.1725+33T>C) | dbSNP |
16 | g.28900949T= | CA2215885559 | ATP2A1 | c.2100+33T= (n.2100+33T=) c.1725+33T= (n.1725+33T=) | |
16 | g.28900949_28900950delinsTC | CA2215885557 | ATP2A1 | c.2100+33_2100+34delinsTC (n.2100+33_2100+34delinsTC) c.1725+33_1725+34delinsTC (n.1725+33_1725+34delinsTC) | |
16 | g.28900950C>T | CA2575960524 | ATP2A1 | c.2100+34C>T (n.2100+34C>T) c.1725+34C>T (n.1725+34C>T) | |
16 | g.28900951del | CA7987169 | ATP2A1 | c.2100+35del (n.2100+35del) c.1725+35del (n.1725+35del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900953C= | CA2215885569 | ATP2A1 | c.2100+37C= (n.2100+37C=) c.1725+37C= (n.1725+37C=) | |
16 | g.28900953C>T | CA7987170 | ATP2A1 | c.2100+37C>T (n.2100+37C>T) c.1725+37C>T (n.1725+37C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900954G>A | CA7987171 | ATP2A1 | c.2100+38G>A (n.2100+38G>A) c.1725+38G>A (n.1725+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900954G= | CA2215885572 | ATP2A1 | c.2100+38G= (n.2100+38G=) c.1725+38G= (n.1725+38G=) | |
16 | g.28900955G>A | CA622162498 | ATP2A1 | c.2100+39G>A (n.2100+39G>A) c.1725+39G>A (n.1725+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900955G= | CA2215885578 | ATP2A1 | c.2100+39G= (n.2100+39G=) c.1725+39G= (n.1725+39G=) |