ClinVar Miner

List of variants in gene ATP2A1 studied for Brody myopathy

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Gene type:
ClinVar version:
Total variants: 712
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HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.*64G>A rs10499 0.74014
NM_004320.6(ATP2A1):c.678T>C (p.Thr226=) rs6565259 0.40633
NM_004320.6(ATP2A1):c.1764+6del rs66716803 0.06704
NM_004320.6(ATP2A1):c.-22C>T rs75273069 0.05579
NM_004320.6(ATP2A1):c.2524+3G>T rs2071341 0.01641
NM_004320.6(ATP2A1):c.1619C>T (p.Pro540Leu) rs114675305 0.00923
NM_004320.6(ATP2A1):c.1809G>A (p.Pro603=) rs151309999 0.00800
NM_004320.6(ATP2A1):c.2611-11C>G rs149389025 0.00657
NM_004320.6(ATP2A1):c.1948G>A (p.Asp650Asn) rs74573581 0.00505
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_004320.6(ATP2A1):c.839A>G (p.Asn280Ser) rs143777158 0.00407
NM_004320.6(ATP2A1):c.1974C>T (p.Phe658=) rs61626938 0.00306
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388 0.00255
NM_004320.6(ATP2A1):c.159G>A (p.Val53=) rs148925426 0.00125
NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met) rs138880727 0.00081
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn) rs150721350 0.00069
NM_004320.6(ATP2A1):c.2101-8T>G rs200246286 0.00061
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=) rs138565447 0.00054
NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His) rs150068594 0.00052
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr) rs186012808 0.00051
NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln) rs149009015 0.00049
NM_004320.6(ATP2A1):c.630+16C>G rs139443632 0.00049
NM_004320.6(ATP2A1):c.2862+20G>C rs377366848 0.00047
NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr) rs149282970 0.00046
NM_004320.6(ATP2A1):c.2862+15G>A rs373910179 0.00036
NM_004320.6(ATP2A1):c.2046G>A (p.Ser682=) rs150380125 0.00033
NM_004320.6(ATP2A1):c.1185-11C>T rs780795453 0.00032
NM_004320.6(ATP2A1):c.1367A>G (p.Asn456Ser) rs185041245 0.00031
NM_004320.6(ATP2A1):c.*103C>T rs368850176 0.00029
NM_004320.6(ATP2A1):c.2943C>T (p.Asp981=) rs146599017 0.00026
NM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln) rs141250244 0.00025
NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=) rs376915313 0.00020
NM_004320.6(ATP2A1):c.630+11C>T rs201144100 0.00020
NM_004320.6(ATP2A1):c.*174A>G rs140984847 0.00018
NM_004320.6(ATP2A1):c.128C>T (p.Ala43Val) rs150403167 0.00018
NM_004320.6(ATP2A1):c.2863-19C>T rs751657540 0.00018
NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=) rs7192781 0.00017
NM_004320.6(ATP2A1):c.2322-14C>T rs201312762 0.00017
NM_004320.6(ATP2A1):c.631-17C>T rs186636950 0.00017
NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=) rs145043756 0.00015
NM_004320.6(ATP2A1):c.1978G>A (p.Asp660Asn) rs541401107 0.00014
NM_004320.6(ATP2A1):c.*51A>G rs544392212 0.00013
NM_004320.6(ATP2A1):c.870C>T (p.Arg290=) rs201786788 0.00012
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp) rs117350233 0.00011
NM_004320.6(ATP2A1):c.1561G>A (p.Val521Ile) rs200092983 0.00011
NM_004320.6(ATP2A1):c.2631C>T (p.Thr877=) rs369179562 0.00011
NM_004320.6(ATP2A1):c.-12G>A rs201334168 0.00010
NM_004320.6(ATP2A1):c.109G>A (p.Gly37Ser) rs200428113 0.00010
NM_004320.6(ATP2A1):c.129T>C (p.Ala43=) rs750655997 0.00010
NM_004320.6(ATP2A1):c.1302T>C (p.Tyr434=) rs141198778 0.00010
NM_004320.6(ATP2A1):c.1540G>C (p.Val514Leu) rs769174301 0.00010
NM_004320.6(ATP2A1):c.1713G>A (p.Pro571=) rs554250074 0.00010
NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met) rs200285714 0.00009
NM_004320.6(ATP2A1):c.666C>T (p.Ile222=) rs546559661 0.00009
NM_004320.6(ATP2A1):c.846C>T (p.Pro282=) rs147215405 0.00009
NM_004320.6(ATP2A1):c.1961C>T (p.Thr654Met) rs148957878 0.00008
NM_004320.6(ATP2A1):c.-15C>T rs761455664 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004320.6(ATP2A1):c.1411T>G (p.Cys471Gly) rs746779770 0.00007
NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln) rs774708450 0.00007
NM_004320.6(ATP2A1):c.1218G>A (p.Gln406=) rs577190575 0.00006
NM_004320.6(ATP2A1):c.1601G>A (p.Arg534Gln) rs149334947 0.00006
NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met) rs142091964 0.00006
NM_004320.6(ATP2A1):c.1800G>A (p.Leu600=) rs201713188 0.00006
NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=) rs754620899 0.00006
NM_004320.6(ATP2A1):c.208T>C (p.Cys70Arg) rs752669373 0.00006
NM_004320.6(ATP2A1):c.2121C>T (p.Asp707=) rs767129999 0.00006
NM_004320.6(ATP2A1):c.2403G>A (p.Gly801=) rs574802332 0.00006
NM_004320.6(ATP2A1):c.2632G>A (p.Glu878Lys) rs760650232 0.00006
NM_004320.6(ATP2A1):c.2774dup (p.Met925fs) rs398124555 0.00006
NM_004320.6(ATP2A1):c.2777C>G (p.Pro926Arg) rs528721981 0.00006
NM_004320.6(ATP2A1):c.2879G>A (p.Arg960Gln) rs771772555 0.00006
NM_004320.6(ATP2A1):c.315G>C (p.Gly105=) rs749001057 0.00006
NM_004320.6(ATP2A1):c.463+15C>T rs549044021 0.00006
NM_004320.6(ATP2A1):c.521G>A (p.Arg174Gln) rs149506518 0.00006
NM_004320.6(ATP2A1):c.*158_*159del rs540528794 0.00005
NM_004320.6(ATP2A1):c.1224C>T (p.Asp408=) rs143812356 0.00005
NM_004320.6(ATP2A1):c.1287+5C>T rs377237562 0.00005
NM_004320.6(ATP2A1):c.1311C>T (p.Val437=) rs748722874 0.00005
NM_004320.6(ATP2A1):c.2274G>A (p.Lys758=) rs750855853 0.00005
NM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro) rs746484055 0.00005
NM_004320.6(ATP2A1):c.2958C>T (p.Phe986=) rs374856682 0.00005
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772 0.00005
NM_004320.6(ATP2A1):c.579C>T (p.Pro193=) rs764289898 0.00005
NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=) rs199557273 0.00004
NM_004320.6(ATP2A1):c.1191G>A (p.Lys397=) rs145788219 0.00004
NM_004320.6(ATP2A1):c.1466G>A (p.Arg489Gln) rs868448815 0.00004
NM_004320.6(ATP2A1):c.1570C>T (p.Arg524Cys) rs770209644 0.00004
NM_004320.6(ATP2A1):c.1767G>A (p.Thr589=) rs148638285 0.00004
NM_004320.6(ATP2A1):c.1913G>A (p.Arg638Gln) rs763141204 0.00004
NM_004320.6(ATP2A1):c.220-11C>T rs369161791 0.00004
NM_004320.6(ATP2A1):c.2334C>T (p.Thr778=) rs745800569 0.00004
NM_004320.6(ATP2A1):c.251C>T (p.Thr84Ile) rs146091204 0.00004
NM_004320.6(ATP2A1):c.328C>T (p.Arg110Trp) rs368388257 0.00004
NM_004320.6(ATP2A1):c.463+16G>A rs568872134 0.00004
NM_004320.6(ATP2A1):c.546C>T (p.Gly182=) rs747347830 0.00004
NM_004320.6(ATP2A1):c.765G>A (p.Glu255=) rs200531611 0.00004
NM_004320.6(ATP2A1):c.841G>A (p.Asp281Asn) rs182391081 0.00004
NM_004320.6(ATP2A1):c.897C>T (p.Ala299=) rs545916900 0.00004
NM_004320.6(ATP2A1):c.1254C>T (p.Ala418=) rs774977203 0.00003
NM_004320.6(ATP2A1):c.1283A>G (p.Asn428Ser) rs138267146 0.00003
NM_004320.6(ATP2A1):c.1333C>A (p.Leu445Ile) rs748412702 0.00003
NM_004320.6(ATP2A1):c.1419G>A (p.Ser473=) rs749463179 0.00003
NM_004320.6(ATP2A1):c.1567G>A (p.Asp523Asn) rs748538818 0.00003
NM_004320.6(ATP2A1):c.1620G>A (p.Pro540=) rs184560545 0.00003
NM_004320.6(ATP2A1):c.1706C>T (p.Thr569Ile) rs756738795 0.00003
NM_004320.6(ATP2A1):c.1717C>T (p.Arg573Ter) rs371058445 0.00003
NM_004320.6(ATP2A1):c.1851C>T (p.Ala617=) rs140547832 0.00003
NM_004320.6(ATP2A1):c.1910G>A (p.Arg637Gln) rs182084601 0.00003
NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=) rs773807881 0.00003
NM_004320.6(ATP2A1):c.1977C>T (p.Asp659=) rs1263928253 0.00003
NM_004320.6(ATP2A1):c.1990G>A (p.Ala664Thr) rs764844913 0.00003
NM_004320.6(ATP2A1):c.2371C>T (p.Gln791Ter) rs895911431 0.00003
NM_004320.6(ATP2A1):c.2400C>T (p.Asp800=) rs756299309 0.00003
NM_004320.6(ATP2A1):c.2456G>A (p.Arg819His) rs780765179 0.00003
NM_004320.6(ATP2A1):c.2640C>T (p.Asn880=) rs1183745928 0.00003
NM_004320.6(ATP2A1):c.2721C>T (p.Ile907=) rs541644982 0.00003
NM_004320.6(ATP2A1):c.310G>A (p.Val104Met) rs1247325735 0.00003
NM_004320.6(ATP2A1):c.329G>A (p.Arg110Gln) rs768820110 0.00003
NM_004320.6(ATP2A1):c.417G>A (p.Arg139=) rs753721392 0.00003
NM_004320.6(ATP2A1):c.580G>A (p.Val194Ile) rs201515814 0.00003
NM_004320.6(ATP2A1):c.631-6T>A rs1450465706 0.00003
NM_004320.6(ATP2A1):c.840C>T (p.Asn280=) rs145160426 0.00003
NM_004320.6(ATP2A1):c.929-10C>G rs201035375 0.00003
NM_004320.6(ATP2A1):c.1015G>A (p.Val339Ile) rs770299228 0.00002
NM_004320.6(ATP2A1):c.1285G>A (p.Glu429Lys) rs762220295 0.00002
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=) rs757274362 0.00002
NM_004320.6(ATP2A1):c.1418C>T (p.Ser473Leu) rs41292392 0.00002
NM_004320.6(ATP2A1):c.1419+11G>A rs202196733 0.00002
NM_004320.6(ATP2A1):c.1571G>A (p.Arg524His) rs140944847 0.00002
NM_004320.6(ATP2A1):c.1641G>A (p.Ala547=) rs1387468030 0.00002
NM_004320.6(ATP2A1):c.1786G>A (p.Val596Ile) rs747622909 0.00002
NM_004320.6(ATP2A1):c.1844G>A (p.Arg615His) rs758544349 0.00002
NM_004320.6(ATP2A1):c.1952G>A (p.Arg651His) rs778662261 0.00002
NM_004320.6(ATP2A1):c.1953C>T (p.Arg651=) rs200969176 0.00002
NM_004320.6(ATP2A1):c.2028C>T (p.Phe676=) rs140078242 0.00002
NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=) rs749931257 0.00002
NM_004320.6(ATP2A1):c.2112C>T (p.Gly704=) rs751104390 0.00002
NM_004320.6(ATP2A1):c.2212G>A (p.Asp738Asn) rs769732457 0.00002
NM_004320.6(ATP2A1):c.2305G>A (p.Val769Met) rs755044339 0.00002
NM_004320.6(ATP2A1):c.2321+19G>A rs375528300 0.00002
NM_004320.6(ATP2A1):c.2343G>A (p.Leu781=) rs886051883 0.00002
NM_004320.6(ATP2A1):c.2455C>T (p.Arg819Cys) rs768177407 0.00002
NM_004320.6(ATP2A1):c.261C>T (p.Ala87=) rs765602202 0.00002
NM_004320.6(ATP2A1):c.2621T>C (p.Met874Thr) rs774583870 0.00002
NM_004320.6(ATP2A1):c.2653G>A (p.Gly885Ser) rs1312245541 0.00002
NM_004320.6(ATP2A1):c.2682C>T (p.Pro894=) rs148569629 0.00002
NM_004320.6(ATP2A1):c.2683G>A (p.Glu895Lys) rs756620939 0.00002
NM_004320.6(ATP2A1):c.2700C>T (p.Ala900=) rs573021883 0.00002
NM_004320.6(ATP2A1):c.2706C>T (p.Ser902=) rs779046968 0.00002
NM_004320.6(ATP2A1):c.2710C>G (p.Leu904Val) rs772242880 0.00002
NM_004320.6(ATP2A1):c.2744+8C>T rs753074477 0.00002
NM_004320.6(ATP2A1):c.2748G>A (p.Leu916=) rs750480672 0.00002
NM_004320.6(ATP2A1):c.2752G>A (p.Glu918Lys) rs376101862 0.00002
NM_004320.6(ATP2A1):c.296T>C (p.Ile99Thr) rs369637881 0.00002
NM_004320.6(ATP2A1):c.324+12C>T rs934091227 0.00002
NM_004320.6(ATP2A1):c.349G>A (p.Glu117Lys) rs773580278 0.00002
NM_004320.6(ATP2A1):c.400C>T (p.Arg134Cys) rs1170892326 0.00002
NM_004320.6(ATP2A1):c.490C>T (p.Arg164Ter) rs1024976181 0.00002
NM_004320.6(ATP2A1):c.515C>T (p.Thr172Met) rs779457144 0.00002
NM_004320.6(ATP2A1):c.690C>T (p.Thr230=) rs756854250 0.00002
NM_004320.6(ATP2A1):c.869G>A (p.Arg290His) rs368208565 0.00002
NM_004320.6(ATP2A1):c.871G>A (p.Gly291Arg) rs761201498 0.00002
NM_004320.6(ATP2A1):c.929-5C>G rs371401695 0.00002
NM_004320.6(ATP2A1):c.933T>C (p.Leu311=) rs773580897 0.00002
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His) rs751166692 0.00002
NM_004320.6(ATP2A1):c.1006T>C (p.Leu336=) rs747160165 0.00001
NM_004320.6(ATP2A1):c.1039G>A (p.Val347Ile) rs371545107 0.00001
NM_004320.6(ATP2A1):c.1095+14T>C rs1963694938 0.00001
NM_004320.6(ATP2A1):c.1096-11C>T rs200488590 0.00001
NM_004320.6(ATP2A1):c.1184+12A>G rs375336581 0.00001
NM_004320.6(ATP2A1):c.1184+16dup rs753412368 0.00001
NM_004320.6(ATP2A1):c.1184+1G>A rs551660089 0.00001
NM_004320.6(ATP2A1):c.118G>A (p.Glu40Lys) rs762501478 0.00001
NM_004320.6(ATP2A1):c.1216C>T (p.Gln406Ter) rs760995377 0.00001
NM_004320.6(ATP2A1):c.1284C>T (p.Asn428=) rs754711450 0.00001
NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=) rs200596448 0.00001
NM_004320.6(ATP2A1):c.1300T>C (p.Tyr434His) rs947362423 0.00001
NM_004320.6(ATP2A1):c.1323C>T (p.Thr441=) rs745749841 0.00001
NM_004320.6(ATP2A1):c.1347G>A (p.Val449=) rs181264502 0.00001
NM_004320.6(ATP2A1):c.136+2dup rs1415021206 0.00001
NM_004320.6(ATP2A1):c.1369A>G (p.Thr457Ala) rs1203169806 0.00001
NM_004320.6(ATP2A1):c.137-10C>T rs763292322 0.00001
NM_004320.6(ATP2A1):c.137-11T>C rs1384007427 0.00001
NM_004320.6(ATP2A1):c.137-4C>G rs201212818 0.00001
NM_004320.6(ATP2A1):c.137-5C>G rs767974799 0.00001
NM_004320.6(ATP2A1):c.137-9C>T rs766669977 0.00001
NM_004320.6(ATP2A1):c.1386C>G (p.Leu462=) rs756723923 0.00001
NM_004320.6(ATP2A1):c.1389G>A (p.Ser463=) rs368170188 0.00001
NM_004320.6(ATP2A1):c.1400G>A (p.Arg467Lys) rs141453876 0.00001
NM_004320.6(ATP2A1):c.1419+10C>T rs1015367876 0.00001
NM_004320.6(ATP2A1):c.1420-6C>T rs778904545 0.00001
NM_004320.6(ATP2A1):c.1442A>T (p.Lys481Met) rs1288758939 0.00001
NM_004320.6(ATP2A1):c.1444G>A (p.Glu482Lys) rs764921561 0.00001
NM_004320.6(ATP2A1):c.1491T>G (p.Tyr497Ter) rs1409892710 0.00001
NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter) rs756940046 0.00001
NM_004320.6(ATP2A1):c.1510T>G (p.Ser504Ala) rs746021467 0.00001
NM_004320.6(ATP2A1):c.1513C>T (p.Arg505Trp) rs758484056 0.00001
NM_004320.6(ATP2A1):c.1545+11G>A rs748533882 0.00001
NM_004320.6(ATP2A1):c.1552C>T (p.Pro518Ser) rs1258517686 0.00001
NM_004320.6(ATP2A1):c.1600C>T (p.Arg534Trp) rs376651574 0.00001
NM_004320.6(ATP2A1):c.1606C>T (p.Pro536Ser) rs200872921 0.00001
NM_004320.6(ATP2A1):c.1640C>T (p.Ala547Val) rs770770067 0.00001
NM_004320.6(ATP2A1):c.1666C>T (p.Arg556Trp) rs760705868 0.00001
NM_004320.6(ATP2A1):c.1678C>T (p.Arg560Cys) rs761592113 0.00001
NM_004320.6(ATP2A1):c.1698C>A (p.Thr566=) rs1320109202 0.00001
NM_004320.6(ATP2A1):c.1749G>A (p.Arg583=) rs147132478 0.00001
NM_004320.6(ATP2A1):c.1765-4C>G rs757455246 0.00001
NM_004320.6(ATP2A1):c.1843C>T (p.Arg615Cys) rs551817195 0.00001
NM_004320.6(ATP2A1):c.1852G>A (p.Gly618Arg) rs781065366 0.00001
NM_004320.6(ATP2A1):c.1909C>T (p.Arg637Trp) rs367563402 0.00001
NM_004320.6(ATP2A1):c.1916T>C (p.Ile639Thr) rs146632347 0.00001
NM_004320.6(ATP2A1):c.1975G>A (p.Asp659Asn) rs373775722 0.00001
NM_004320.6(ATP2A1):c.1A>G (p.Met1Val) rs368689264 0.00001
NM_004320.6(ATP2A1):c.2014C>T (p.Arg672Cys) rs201306038 0.00001
NM_004320.6(ATP2A1):c.2015G>A (p.Arg672His) rs147395745 0.00001
NM_004320.6(ATP2A1):c.201G>A (p.Leu67=) rs1459156708 0.00001
NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter) rs121918114 0.00001
NM_004320.6(ATP2A1):c.2040G>T (p.Glu680Asp) rs775815693 0.00001
NM_004320.6(ATP2A1):c.2045C>T (p.Ser682Leu) rs760340608 0.00001
NM_004320.6(ATP2A1):c.2056A>C (p.Lys686Gln) rs1181435083 0.00001
NM_004320.6(ATP2A1):c.2060T>C (p.Ile687Thr) rs761806925 0.00001
NM_004320.6(ATP2A1):c.2077T>G (p.Ser693Ala) rs563510255 0.00001
NM_004320.6(ATP2A1):c.207A>C (p.Ala69=) rs767648658 0.00001
NM_004320.6(ATP2A1):c.2083G>A (p.Asp695Asn) rs986202909 0.00001
NM_004320.6(ATP2A1):c.2153T>C (p.Ile718Thr) rs750943917 0.00001
NM_004320.6(ATP2A1):c.220-14C>T rs772144515 0.00001
NM_004320.6(ATP2A1):c.2230G>A (p.Val744Ile) rs866421756 0.00001
NM_004320.6(ATP2A1):c.2239G>A (p.Val747Met) rs550478826 0.00001
NM_004320.6(ATP2A1):c.2253C>T (p.Arg751=) rs759011501 0.00001
NM_004320.6(ATP2A1):c.2262C>G (p.Tyr754Ter) rs752371826 0.00001
NM_004320.6(ATP2A1):c.2285G>A (p.Arg762His) rs886051882 0.00001
NM_004320.6(ATP2A1):c.2321+18C>T rs770875659 0.00001
NM_004320.6(ATP2A1):c.2322-16C>T rs535131063 0.00001
NM_004320.6(ATP2A1):c.2322-2A>G rs1964095605 0.00001
NM_004320.6(ATP2A1):c.2367G>A (p.Pro789=) rs776296218 0.00001
NM_004320.6(ATP2A1):c.2414C>T (p.Thr805Ile) rs778571371 0.00001
NM_004320.6(ATP2A1):c.2423G>A (p.Gly808Asp) rs1270731404 0.00001
NM_004320.6(ATP2A1):c.2424C>T (p.Gly808=) rs745735448 0.00001
NM_004320.6(ATP2A1):c.2434C>T (p.Pro812Ser) rs1484794775 0.00001
NM_004320.6(ATP2A1):c.2457C>T (p.Arg819=) rs747759395 0.00001
NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly) rs764640218 0.00001
NM_004320.6(ATP2A1):c.2485A>G (p.Ile829Val) rs1027094269 0.00001
NM_004320.6(ATP2A1):c.2518A>G (p.Ile840Val) rs750155383 0.00001
NM_004320.6(ATP2A1):c.2520C>T (p.Ile840=) rs758221964 0.00001
NM_004320.6(ATP2A1):c.2524G>A (p.Gly842Ser) rs751510265 0.00001
NM_004320.6(ATP2A1):c.2545G>A (p.Val849Met) rs748956350 0.00001
NM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg) rs780556969 0.00001
NM_004320.6(ATP2A1):c.2574C>T (p.Tyr858=) rs368234110 0.00001
NM_004320.6(ATP2A1):c.2584G>A (p.Gly862Arg) rs1017066759 0.00001
NM_004320.6(ATP2A1):c.2610+20G>A rs1268395192 0.00001
NM_004320.6(ATP2A1):c.2630C>T (p.Thr877Ile) rs779823220 0.00001
NM_004320.6(ATP2A1):c.2634G>A (p.Glu878=) rs763991120 0.00001
NM_004320.6(ATP2A1):c.2644C>T (p.His882Tyr) rs756859416 0.00001
NM_004320.6(ATP2A1):c.2649T>C (p.Phe883=) rs750115237 0.00001
NM_004320.6(ATP2A1):c.2678C>T (p.Ala893Val) rs1237226867 0.00001
NM_004320.6(ATP2A1):c.2695A>G (p.Met899Val) rs373480720 0.00001
NM_004320.6(ATP2A1):c.2744+10C>T rs778200749 0.00001
NM_004320.6(ATP2A1):c.2744+9C>G rs756462008 0.00001
NM_004320.6(ATP2A1):c.2751C>T (p.Ser917=) rs758430049 0.00001
NM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304 0.00001
NM_004320.6(ATP2A1):c.2771G>A (p.Arg924Gln) rs781119219 0.00001
NM_004320.6(ATP2A1):c.2772G>A (p.Arg924=) rs748003836 0.00001
NM_004320.6(ATP2A1):c.2776C>T (p.Pro926Ser) rs769822529 0.00001
NM_004320.6(ATP2A1):c.280A>G (p.Ile94Val) rs750741201 0.00001
NM_004320.6(ATP2A1):c.2835C>T (p.Phe945=) rs776951772 0.00001
NM_004320.6(ATP2A1):c.2836C>G (p.Leu946Val) rs762199691 0.00001
NM_004320.6(ATP2A1):c.2840T>C (p.Ile947Thr) rs1413587198 0.00001
NM_004320.6(ATP2A1):c.2862+9T>G rs1555517403 0.00001
NM_004320.6(ATP2A1):c.2863-12C>T rs1964143868 0.00001
NM_004320.6(ATP2A1):c.2902C>T (p.Leu968Phe) rs1403323589 0.00001
NM_004320.6(ATP2A1):c.2932A>G (p.Ile978Val) rs768415562 0.00001
NM_004320.6(ATP2A1):c.2980G>A (p.Gly994Arg) rs1964150293 0.00001
NM_004320.6(ATP2A1):c.302A>G (p.Asn101Ser) rs748108273 0.00001
NM_004320.6(ATP2A1):c.324+7G>A rs373459786 0.00001
NM_004320.6(ATP2A1):c.324+8T>C rs986557403 0.00001
NM_004320.6(ATP2A1):c.334G>A (p.Ala112Thr) rs1349217249 0.00001
NM_004320.6(ATP2A1):c.342C>T (p.Asn114=) rs770335039 0.00001
NM_004320.6(ATP2A1):c.369G>A (p.Glu123=) rs767247603 0.00001
NM_004320.6(ATP2A1):c.391C>T (p.Arg131Trp) rs1963516068 0.00001
NM_004320.6(ATP2A1):c.435C>T (p.Ile145=) rs755237937 0.00001
NM_004320.6(ATP2A1):c.448A>G (p.Ile150Val) rs1278316076 0.00001
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=) rs781369773 0.00001
NM_004320.6(ATP2A1):c.451G>A (p.Val151Met) rs748285172 0.00001
NM_004320.6(ATP2A1):c.463+10A>G rs920913786 0.00001
NM_004320.6(ATP2A1):c.553G>A (p.Val185Ile) rs776334546 0.00001
NM_004320.6(ATP2A1):c.573G>A (p.Thr191=) rs774177721 0.00001
NM_004320.6(ATP2A1):c.576G>A (p.Glu192=) rs1199745623 0.00001
NM_004320.6(ATP2A1):c.592C>T (p.Arg198Ter) rs121918113 0.00001
NM_004320.6(ATP2A1):c.629C>T (p.Ser210Leu) rs772693650 0.00001
NM_004320.6(ATP2A1):c.640A>G (p.Ile214Val) rs770199753 0.00001
NM_004320.6(ATP2A1):c.660G>A (p.Leu220=) rs1963645121 0.00001
NM_004320.6(ATP2A1):c.66G>A (p.Thr22=) rs780688111 0.00001
NM_004320.6(ATP2A1):c.675C>T (p.Thr225=) rs753160368 0.00001
NM_004320.6(ATP2A1):c.704T>A (p.Ile235Asn) rs569683468 0.00001
NM_004320.6(ATP2A1):c.706C>T (p.Arg236Ter) rs745337023 0.00001
NM_004320.6(ATP2A1):c.844C>T (p.Pro282Ser) rs746961249 0.00001
NM_004320.6(ATP2A1):c.847G>A (p.Val283Ile) rs781166858 0.00001
NM_004320.6(ATP2A1):c.857G>A (p.Gly286Asp) rs771239706 0.00001
NM_004320.6(ATP2A1):c.868C>T (p.Arg290Cys) rs374313207 0.00001
NM_004320.6(ATP2A1):c.88A>C (p.Lys30Gln) rs777070879 0.00001
NM_004320.6(ATP2A1):c.929-14C>T rs1456894931 0.00001
NM_004320.6(ATP2A1):c.974G>A (p.Arg325Gln) rs767065944 0.00001
NC_000016.10:g.(?_28878661)_(28904215_?)del
NC_000016.10:g.(?_28878662)_(28904215_?)del
NC_000016.10:g.(?_28887179)_(28888963_?)del
NC_000016.9:g.(?_28889809)_(28893910_?)dup
NC_000016.9:g.(?_28889973)_(28893930_?)dup
NC_000016.9:g.(?_28900098)_(28900284_?)del
NC_000016.9:g.(?_28905466)_(28915536_?)dup
NC_000016.9:g.(?_28909311)_(28915526_?)dup
NM_004320.6(ATP2A1):c.*158A>T rs1037560496
NM_004320.6(ATP2A1):c.*203G>C rs886051884
NM_004320.6(ATP2A1):c.*234T>G rs1749997734
NM_004320.6(ATP2A1):c.*38-14_*38-13del rs747872347
NM_004320.6(ATP2A1):c.*38-20C>T
NM_004320.6(ATP2A1):c.1001G>A (p.Arg334Lys)
NM_004320.6(ATP2A1):c.1025T>C (p.Leu342Pro) rs1241914310
NM_004320.6(ATP2A1):c.1050C>G (p.Ser350=)
NM_004320.6(ATP2A1):c.1050C>T (p.Ser350=)
NM_004320.6(ATP2A1):c.1051G>A (p.Asp351Asn)
NM_004320.6(ATP2A1):c.1071C>T (p.Thr357=) rs966842136
NM_004320.6(ATP2A1):c.1091G>C (p.Cys364Ser) rs2152205303
NM_004320.6(ATP2A1):c.1095+13G>A
NM_004320.6(ATP2A1):c.1096-10T>C
NM_004320.6(ATP2A1):c.1106T>C (p.Ile369Thr)
NM_004320.6(ATP2A1):c.1107T>C (p.Ile369=)
NM_004320.6(ATP2A1):c.1112A>C (p.Lys371Thr)
NM_004320.6(ATP2A1):c.1130_1131delinsTT (p.Cys377Phe)
NM_004320.6(ATP2A1):c.1136T>C (p.Leu379Pro) rs1596677553
NM_004320.6(ATP2A1):c.1158C>T (p.Gly386=) rs1555516283
NM_004320.6(ATP2A1):c.1168G>A (p.Ala390Thr)
NM_004320.6(ATP2A1):c.116A>G (p.Asn39Ser) rs2152195750
NM_004320.6(ATP2A1):c.1176G>A (p.Glu392=) rs886051879
NM_004320.6(ATP2A1):c.118+1G>A rs992119026
NM_004320.6(ATP2A1):c.118+1G>T
NM_004320.6(ATP2A1):c.1183G>T (p.Val395Phe)
NM_004320.6(ATP2A1):c.1184+20T>C
NM_004320.6(ATP2A1):c.119-15_119-13del
NM_004320.6(ATP2A1):c.119-16T>C
NM_004320.6(ATP2A1):c.1231G>C (p.Val411Leu) rs1963864332
NM_004320.6(ATP2A1):c.1237C>T (p.Leu413=) rs2152209404
NM_004320.6(ATP2A1):c.1251T>G (p.Cys417Trp)
NM_004320.6(ATP2A1):c.1253C>T (p.Ala418Val) rs2152209408
NM_004320.6(ATP2A1):c.1263T>C (p.Asn421=) rs2152209416
NM_004320.6(ATP2A1):c.1287+12T>G rs1963866032
NM_004320.6(ATP2A1):c.1287+16C>T
NM_004320.6(ATP2A1):c.1287+18T>C rs2152209451
NM_004320.6(ATP2A1):c.1287+20C>G
NM_004320.6(ATP2A1):c.1288-15C>T rs2152209548
NM_004320.6(ATP2A1):c.1288-8C>T rs2152209552
NM_004320.6(ATP2A1):c.1294G>A (p.Gly432Ser) rs752021942
NM_004320.6(ATP2A1):c.1312G>A (p.Gly438Ser) rs924674103
NM_004320.6(ATP2A1):c.1315G>A (p.Glu439Lys)
NM_004320.6(ATP2A1):c.1338C>T (p.Thr446=)
NM_004320.6(ATP2A1):c.1344G>A (p.Leu448=)
NM_004320.6(ATP2A1):c.136+20G>A
NM_004320.6(ATP2A1):c.137-14G>C
NM_004320.6(ATP2A1):c.137-19C>T
NM_004320.6(ATP2A1):c.137-7C>A
NM_004320.6(ATP2A1):c.1384_1385delinsGC (p.Leu462Ala) rs1596678543
NM_004320.6(ATP2A1):c.139A>G (p.Lys47Glu) rs2152196778
NM_004320.6(ATP2A1):c.1410C>G (p.Ala470=) rs2152209698
NM_004320.6(ATP2A1):c.1419+20G>A
NM_004320.6(ATP2A1):c.1420-17C>T
NM_004320.6(ATP2A1):c.1430A>G (p.Gln477Arg)
NM_004320.6(ATP2A1):c.144C>G (p.Thr48=)
NM_004320.6(ATP2A1):c.1457A>T (p.Glu486Val) rs1454654160
NM_004320.6(ATP2A1):c.1465C>T (p.Arg489Ter)
NM_004320.6(ATP2A1):c.1470C>T (p.Asp490=)
NM_004320.6(ATP2A1):c.1478C>A (p.Ser493Tyr) rs1463207324
NM_004320.6(ATP2A1):c.1526G>A (p.Gly509Asp)
NM_004320.6(ATP2A1):c.1531A>C (p.Lys511Gln) rs746522971
NM_004320.6(ATP2A1):c.1539T>C (p.Phe513=) rs2152211605
NM_004320.6(ATP2A1):c.1545+7A>G rs2152211617
NM_004320.6(ATP2A1):c.1545G>T (p.Lys515Asn) rs2152211613
NM_004320.6(ATP2A1):c.1546-17C>T
NM_004320.6(ATP2A1):c.1546-8T>C rs2152211664
NM_004320.6(ATP2A1):c.1566C>T (p.Ile522=) rs1249392655
NM_004320.6(ATP2A1):c.1575dup (p.Asn526Ter)
NM_004320.6(ATP2A1):c.1587A>T (p.Arg529=)
NM_004320.6(ATP2A1):c.1603G>A (p.Val535Met) rs1433734726
NM_004320.6(ATP2A1):c.1613C>T (p.Thr538Met)
NM_004320.6(ATP2A1):c.1614G>A (p.Thr538=) rs12596913
NM_004320.6(ATP2A1):c.1614G>C (p.Thr538=) rs12596913
NM_004320.6(ATP2A1):c.1620G>T (p.Pro540=) rs184560545
NM_004320.6(ATP2A1):c.1636A>G (p.Met546Val)
NM_004320.6(ATP2A1):c.1637T>C (p.Met546Thr)
NM_004320.6(ATP2A1):c.1643T>C (p.Val548Ala)
NM_004320.6(ATP2A1):c.1667G>A (p.Arg556Gln)
NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs) rs1433893346
NM_004320.6(ATP2A1):c.1675C>T (p.Leu559=)
NM_004320.6(ATP2A1):c.1676T>C (p.Leu559Pro)
NM_004320.6(ATP2A1):c.1686G>A (p.Leu562=)
NM_004320.6(ATP2A1):c.1688C>T (p.Ala563Val)
NM_004320.6(ATP2A1):c.1695C>A (p.Ala565=)
NM_004320.6(ATP2A1):c.1699C>A (p.Arg567=)
NM_004320.6(ATP2A1):c.1699C>G (p.Arg567Gly)
NM_004320.6(ATP2A1):c.1707C>G (p.Thr569=) rs2152211818
NM_004320.6(ATP2A1):c.1710C>A (p.Pro570=)
NM_004320.6(ATP2A1):c.1712C>A (p.Pro571Gln) rs567407505
NM_004320.6(ATP2A1):c.1712C>T (p.Pro571Leu) rs567407505
NM_004320.6(ATP2A1):c.1712del (p.Pro571fs)
NM_004320.6(ATP2A1):c.1712dup (p.Lys572fs)
NM_004320.6(ATP2A1):c.1714A>C (p.Lys572Gln) rs1159716345
NM_004320.6(ATP2A1):c.1741T>C (p.Ser581Pro) rs1963978308
NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs) rs1421005631
NM_004320.6(ATP2A1):c.1764+6C>T
NM_004320.6(ATP2A1):c.1764+7A>C rs949573285
NM_004320.6(ATP2A1):c.1764_1764+2delinsTGG rs1596682330
NM_004320.6(ATP2A1):c.1765A>G (p.Thr589Ala)
NM_004320.6(ATP2A1):c.1778T>A (p.Phe593Tyr)
NM_004320.6(ATP2A1):c.177C>T (p.Asp59=)
NM_004320.6(ATP2A1):c.1780G>C (p.Val594Leu) rs142091964
NM_004320.6(ATP2A1):c.178del (p.Leu60fs) rs2152196826
NM_004320.6(ATP2A1):c.1790T>C (p.Val597Ala)
NM_004320.6(ATP2A1):c.1803C>T (p.Asp601=)
NM_004320.6(ATP2A1):c.1808C>T (p.Pro603Leu) rs371822329
NM_004320.6(ATP2A1):c.1810C>T (p.Arg604Cys) rs765984663
NM_004320.6(ATP2A1):c.1813A>G (p.Lys605Glu)
NM_004320.6(ATP2A1):c.1814AGG[1] (p.Glu606del) rs1215898115
NM_004320.6(ATP2A1):c.1817_1818delinsTC (p.Glu606Val)
NM_004320.6(ATP2A1):c.1843C>G (p.Arg615Gly) rs551817195
NM_004320.6(ATP2A1):c.1848C>T (p.Asp616=)
NM_004320.6(ATP2A1):c.1849G>A (p.Ala617Thr)
NM_004320.6(ATP2A1):c.185T>G (p.Val62Gly)
NM_004320.6(ATP2A1):c.1899T>C (p.Ile633=) rs150069670
NM_004320.6(ATP2A1):c.1912C>T (p.Arg638Ter)
NM_004320.6(ATP2A1):c.1914A>G (p.Arg638=)
NM_004320.6(ATP2A1):c.1936G>A (p.Glu646Lys) rs141394193
NM_004320.6(ATP2A1):c.1936G>C (p.Glu646Gln)
NM_004320.6(ATP2A1):c.1938G>C (p.Glu646Asp)
NM_004320.6(ATP2A1):c.1941G>A (p.Glu647=) rs886051880
NM_004320.6(ATP2A1):c.1954G>A (p.Ala652Thr)
NM_004320.6(ATP2A1):c.1957T>C (p.Tyr653His)
NM_004320.6(ATP2A1):c.195C>A (p.Leu65=) rs1555514587
NM_004320.6(ATP2A1):c.195C>T (p.Leu65=) rs1555514587
NM_004320.6(ATP2A1):c.195CCT[1] (p.Leu67del) rs753865718
NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys) rs148957878
NM_004320.6(ATP2A1):c.1966C>T (p.Arg656Ter) rs559067146
NM_004320.6(ATP2A1):c.1974C>A (p.Phe658Leu)
NM_004320.6(ATP2A1):c.1976A>G (p.Asp659Gly) rs1555516985
NM_004320.6(ATP2A1):c.198C>G (p.Leu66=) rs2152196860
NM_004320.6(ATP2A1):c.198C>T (p.Leu66=) rs2152196860
NM_004320.6(ATP2A1):c.1998G>A (p.Gln666=) rs750021219
NM_004320.6(ATP2A1):c.2000G>C (p.Arg667Pro)
NM_004320.6(ATP2A1):c.200T>G (p.Leu67Arg) rs2152196866
NM_004320.6(ATP2A1):c.2011C>T (p.Arg671Ter) rs1555516994
NM_004320.6(ATP2A1):c.2012G>A (p.Arg671Gln)
NM_004320.6(ATP2A1):c.2021G>A (p.Cys674Tyr)
NM_004320.6(ATP2A1):c.2029G>T (p.Ala677Ser) rs774406575
NM_004320.6(ATP2A1):c.2032C>T (p.Arg678Cys)
NM_004320.6(ATP2A1):c.2033G>A (p.Arg678His)
NM_004320.6(ATP2A1):c.204C>T (p.Ala68=) rs1555514590
NM_004320.6(ATP2A1):c.2056_2057del (p.Lys686fs) rs2152213646
NM_004320.6(ATP2A1):c.2073G>A (p.Leu691=)
NM_004320.6(ATP2A1):c.2075A>G (p.Gln692Arg)
NM_004320.6(ATP2A1):c.2089A>G (p.Ile697Val)
NM_004320.6(ATP2A1):c.2091C>G (p.Ile697Met) rs886051881
NM_004320.6(ATP2A1):c.209G>A (p.Cys70Tyr)
NM_004320.6(ATP2A1):c.2100+12C>A rs2152213689
NM_004320.6(ATP2A1):c.2100+15del
NM_004320.6(ATP2A1):c.2101-15C>T rs1964082734
NM_004320.6(ATP2A1):c.2101-15CTC[2]
NM_004320.6(ATP2A1):c.2101-4_2101-3del
NM_004320.6(ATP2A1):c.2101-9C>T rs765235338
NM_004320.6(ATP2A1):c.2113G>A (p.Val705Ile)
NM_004320.6(ATP2A1):c.2122G>A (p.Ala708Thr)
NM_004320.6(ATP2A1):c.2146A>G (p.Ile716Val) rs1429177035
NM_004320.6(ATP2A1):c.2164T>C (p.Ser722Pro)
NM_004320.6(ATP2A1):c.2175C>T (p.Ala725=) rs1332742510
NM_004320.6(ATP2A1):c.2176G>A (p.Val726Met)
NM_004320.6(ATP2A1):c.2182A>G (p.Lys728Glu) rs1596686606
NM_004320.6(ATP2A1):c.2183A>G (p.Lys728Arg) rs747116287
NM_004320.6(ATP2A1):c.219+10G>A
NM_004320.6(ATP2A1):c.219+1G>C rs1963393226
NM_004320.6(ATP2A1):c.219+20_219+21del
NM_004320.6(ATP2A1):c.219+5G>A
NM_004320.6(ATP2A1):c.2209GAC[1] (p.Asp738del) rs1180385645
NM_004320.6(ATP2A1):c.2229C>T (p.Ile743=)
NM_004320.6(ATP2A1):c.2238T>C (p.Ala746=)
NM_004320.6(ATP2A1):c.2248G>A (p.Gly750Ser)
NM_004320.6(ATP2A1):c.2284C>T (p.Arg762Cys) rs758893778
NM_004320.6(ATP2A1):c.2290C>T (p.Leu764Phe) rs2152214409
NM_004320.6(ATP2A1):c.2292C>T (p.Leu764=)
NM_004320.6(ATP2A1):c.2293A>G (p.Ile765Val) rs2152214414
NM_004320.6(ATP2A1):c.2311G>A (p.Glu771Lys) rs972494690
NM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter) rs972494690
NM_004320.6(ATP2A1):c.2321+9C>T
NM_004320.6(ATP2A1):c.2322-14C>A
NM_004320.6(ATP2A1):c.2322-19G>A rs2152214495
NM_004320.6(ATP2A1):c.2322-5dup rs2152214501
NM_004320.6(ATP2A1):c.2323A>C (p.Ile775Leu)
NM_004320.6(ATP2A1):c.2333C>T (p.Thr778Ile) rs1964095829
NM_004320.6(ATP2A1):c.2340C>T (p.Ala780=) rs2152214529
NM_004320.6(ATP2A1):c.2366C>G (p.Pro789Arg) rs121918115
NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu) rs121918115
NM_004320.6(ATP2A1):c.2377C>T (p.Leu793=)
NM_004320.6(ATP2A1):c.2397C>T (p.Thr799=)
NM_004320.6(ATP2A1):c.2398G>A (p.Asp800Asn)
NM_004320.6(ATP2A1):c.2398G>C (p.Asp800His) rs752797728
NM_004320.6(ATP2A1):c.2401G>A (p.Gly801Arg)
NM_004320.6(ATP2A1):c.241G>A (p.Gly81Ser)
NM_004320.6(ATP2A1):c.2429A>G (p.Asn810Ser) rs1964099692
NM_004320.6(ATP2A1):c.242G>A (p.Gly81Asp)
NM_004320.6(ATP2A1):c.2431C>A (p.Pro811Thr)
NM_004320.6(ATP2A1):c.2450T>G (p.Met817Arg)
NM_004320.6(ATP2A1):c.2462C>A (p.Pro821His) rs774562744
NM_004320.6(ATP2A1):c.2464C>T (p.Arg822Trp)
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs) rs751365374
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004320.6(ATP2A1):c.2475G>A (p.Lys825=) rs2152214663
NM_004320.6(ATP2A1):c.2480C>T (p.Pro827Leu)
NM_004320.6(ATP2A1):c.2487C>T (p.Ile829=)
NM_004320.6(ATP2A1):c.2490T>C (p.Ser830=)
NM_004320.6(ATP2A1):c.2506C>T (p.Arg836Cys)
NM_004320.6(ATP2A1):c.2507G>A (p.Arg836His)
NM_004320.6(ATP2A1):c.2512A>G (p.Met838Val)
NM_004320.6(ATP2A1):c.2521G>A (p.Gly841Arg) rs1596687295
NM_004320.6(ATP2A1):c.2524+12G>T
NM_004320.6(ATP2A1):c.2524+1G>A
NM_004320.6(ATP2A1):c.2524+20C>T
NM_004320.6(ATP2A1):c.2525-16C>T rs2152214855
NM_004320.6(ATP2A1):c.2525-1G>A
NM_004320.6(ATP2A1):c.2525-20C>T
NM_004320.6(ATP2A1):c.2525-5_2525-3del rs2152214857
NM_004320.6(ATP2A1):c.2535T>C (p.Gly845=) rs1291666603
NM_004320.6(ATP2A1):c.253A>G (p.Ile85Val)
NM_004320.6(ATP2A1):c.2540C>G (p.Ala847Gly) rs1964112718
NM_004320.6(ATP2A1):c.2544C>A (p.Thr848=) rs370857311
NM_004320.6(ATP2A1):c.2544C>T (p.Thr848=)
NM_004320.6(ATP2A1):c.2558C>T (p.Ala853Val)
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter) rs368234110
NM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter) rs368234110
NM_004320.6(ATP2A1):c.2580G>A (p.Glu860=)
NM_004320.6(ATP2A1):c.2595del (p.Asn866fs) rs398124554
NM_004320.6(ATP2A1):c.2607G>A (p.Gln869=) rs2152214949
NM_004320.6(ATP2A1):c.2610+12C>T
NM_004320.6(ATP2A1):c.2610+25_2610+53del rs747410997
NM_004320.6(ATP2A1):c.2610+8G>A
NM_004320.6(ATP2A1):c.2611-15G>A
NM_004320.6(ATP2A1):c.2611-16C>T rs770270064
NM_004320.6(ATP2A1):c.2615_2618del (p.His872fs) rs1964119065
NM_004320.6(ATP2A1):c.2620A>G (p.Met874Val) rs1567492184
NM_004320.6(ATP2A1):c.2625G>A (p.Gln875=)
NM_004320.6(ATP2A1):c.2627G>A (p.Cys876Tyr)
NM_004320.6(ATP2A1):c.2664_2665del (p.Cys888_Glu889delinsTer)
NM_004320.6(ATP2A1):c.2682del (p.Glu895fs) rs2152215136
NM_004320.6(ATP2A1):c.2692A>T (p.Thr898Ser)
NM_004320.6(ATP2A1):c.2702T>C (p.Leu901Pro)
NM_004320.6(ATP2A1):c.2726T>C (p.Met909Thr)
NM_004320.6(ATP2A1):c.272C>T (p.Pro91Leu) rs1057522931
NM_004320.6(ATP2A1):c.2744+19C>T
NM_004320.6(ATP2A1):c.2744+1G>A rs111266804
NM_004320.6(ATP2A1):c.2744+4G>A
NM_004320.6(ATP2A1):c.2745-15C>A
NM_004320.6(ATP2A1):c.2745-17C>T
NM_004320.6(ATP2A1):c.2750C>G (p.Ser917Cys) rs1555517373
NM_004320.6(ATP2A1):c.2762C>T (p.Ser921Phe) rs2152215339
NM_004320.6(ATP2A1):c.2764C>T (p.Leu922=) rs2152215341
NM_004320.6(ATP2A1):c.2770C>T (p.Arg924Trp) rs1318387122
NM_004320.6(ATP2A1):c.2820C>T (p.Ser940=)
NM_004320.6(ATP2A1):c.2826C>G (p.Ser942=) rs144420308
NM_004320.6(ATP2A1):c.2832C>T (p.His944=)
NM_004320.6(ATP2A1):c.2852A>G (p.Asp951Gly)
NM_004320.6(ATP2A1):c.2853C>T (p.Asp951=) rs758438542
NM_004320.6(ATP2A1):c.2857_2858del (p.Leu953fs) rs2152215416
NM_004320.6(ATP2A1):c.2862+10C>A
NM_004320.6(ATP2A1):c.2862+14C>G
NM_004320.6(ATP2A1):c.2862+14C>T
NM_004320.6(ATP2A1):c.2862+16C>A
NM_004320.6(ATP2A1):c.2863-8del rs2152215568
NM_004320.6(ATP2A1):c.2863-9del rs754787368
NM_004320.6(ATP2A1):c.2868C>T (p.Ile956=) rs2152215585
NM_004320.6(ATP2A1):c.2906T>C (p.Met969Thr)
NM_004320.6(ATP2A1):c.2911C>T (p.Leu971Phe) rs1964147756
NM_004320.6(ATP2A1):c.2930T>C (p.Val977Ala) rs1332963906
NM_004320.6(ATP2A1):c.2940C>T (p.Leu980=)
NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys) rs538702357
NM_004320.6(ATP2A1):c.294C>T (p.Leu98=)
NM_004320.6(ATP2A1):c.2958C>G (p.Phe986Leu) rs374856682
NM_004320.6(ATP2A1):c.2959G>A (p.Val987Ile) rs200445830
NM_004320.6(ATP2A1):c.2959G>C (p.Val987Leu) rs200445830
NM_004320.6(ATP2A1):c.295A>C (p.Ile99Leu) rs758104818
NM_004320.6(ATP2A1):c.2967G>C (p.Arg989=)
NM_004320.6(ATP2A1):c.2971T>C (p.Tyr991His) rs1165591642
NM_004320.6(ATP2A1):c.2980+12C>T rs2152215707
NM_004320.6(ATP2A1):c.2980+13CT[2] rs757352285
NM_004320.6(ATP2A1):c.299C>T (p.Ala100Val)
NM_004320.6(ATP2A1):c.307A>G (p.Ile103Val)
NM_004320.6(ATP2A1):c.324+1G>A rs1963456518
NM_004320.6(ATP2A1):c.324+1G>C rs1963456518
NM_004320.6(ATP2A1):c.325-20C>T
NM_004320.6(ATP2A1):c.325-2A>T rs1567479853
NM_004320.6(ATP2A1):c.329G>T (p.Arg110Leu)
NM_004320.6(ATP2A1):c.333C>T (p.Asn111=)
NM_004320.6(ATP2A1):c.348C>T (p.Ile116=)
NM_004320.6(ATP2A1):c.356T>C (p.Leu119Pro) rs2152200141
NM_004320.6(ATP2A1):c.361G>A (p.Glu121Lys) rs560022895
NM_004320.6(ATP2A1):c.362A>G (p.Glu121Gly) rs1555514985
NM_004320.6(ATP2A1):c.367G>C (p.Glu123Gln)
NM_004320.6(ATP2A1):c.381G>C (p.Gly127=)
NM_004320.6(ATP2A1):c.401G>A (p.Arg134His)
NM_004320.6(ATP2A1):c.405G>A (p.Lys135=) rs1596664460
NM_004320.6(ATP2A1):c.41C>A (p.Ala14Asp) rs1320892017
NM_004320.6(ATP2A1):c.420C>G (p.Ile140Met)
NM_004320.6(ATP2A1):c.422A>G (p.Lys141Arg) rs1057524640
NM_004320.6(ATP2A1):c.433A>G (p.Ile145Val) rs1307339770
NM_004320.6(ATP2A1):c.436G>A (p.Val146Ile)
NM_004320.6(ATP2A1):c.440C>G (p.Pro147Arg) rs2152200222
NM_004320.6(ATP2A1):c.440del (p.Pro147fs) rs748241465
NM_004320.6(ATP2A1):c.448A>T (p.Ile150Phe) rs1278316076
NM_004320.6(ATP2A1):c.44A>G (p.Tyr15Cys)
NM_004320.6(ATP2A1):c.459G>A (p.Val153=)
NM_004320.6(ATP2A1):c.463+16G>C
NM_004320.6(ATP2A1):c.464-10C>G
NM_004320.6(ATP2A1):c.464-5C>T
NM_004320.6(ATP2A1):c.464-5del
NM_004320.6(ATP2A1):c.466G>A (p.Gly156Arg)
NM_004320.6(ATP2A1):c.472A>G (p.Lys158Glu) rs956847228
NM_004320.6(ATP2A1):c.474A>T (p.Lys158Asn) rs777744607
NM_004320.6(ATP2A1):c.479C>T (p.Pro160Leu) rs1596666779
NM_004320.6(ATP2A1):c.496C>T (p.Leu166Phe)
NM_004320.6(ATP2A1):c.498C>T (p.Leu166=)
NM_004320.6(ATP2A1):c.499G>A (p.Ala167Thr)
NM_004320.6(ATP2A1):c.4G>A (p.Glu2Lys)
NM_004320.6(ATP2A1):c.513C>A (p.Thr171=) rs1596666824
NM_004320.6(ATP2A1):c.516G>A (p.Thr172=)
NM_004320.6(ATP2A1):c.520C>T (p.Arg174Trp)
NM_004320.6(ATP2A1):c.524T>G (p.Val175Gly)
NM_004320.6(ATP2A1):c.527A>T (p.Asp176Val) rs1263551630
NM_004320.6(ATP2A1):c.538C>T (p.Leu180=)
NM_004320.6(ATP2A1):c.544+12T>G
NM_004320.6(ATP2A1):c.544+15G>C
NM_004320.6(ATP2A1):c.544+18G>T
NM_004320.6(ATP2A1):c.544+1G>A
NM_004320.6(ATP2A1):c.545-20C>A rs2152203555
NM_004320.6(ATP2A1):c.545-9T>A
NM_004320.6(ATP2A1):c.547G>A (p.Glu183Lys)
NM_004320.6(ATP2A1):c.550T>G (p.Ser184Ala) rs1567482317
NM_004320.6(ATP2A1):c.554T>C (p.Val185Ala)
NM_004320.6(ATP2A1):c.55A>G (p.Ser19Gly) rs1963351388
NM_004320.6(ATP2A1):c.562A>G (p.Ile188Val)
NM_004320.6(ATP2A1):c.564C>G (p.Ile188Met)
NM_004320.6(ATP2A1):c.570C>T (p.His190=) rs2152203600
NM_004320.6(ATP2A1):c.57_60del (p.Ser19fs) rs770239154
NM_004320.6(ATP2A1):c.580G>T (p.Val194Phe) rs201515814
NM_004320.6(ATP2A1):c.588C>T (p.Asp196=) rs1438007737
NM_004320.6(ATP2A1):c.58G>A (p.Glu20Lys)
NM_004320.6(ATP2A1):c.591C>T (p.Pro197=) rs765428774
NM_004320.6(ATP2A1):c.592del (p.Arg198fs) rs1187948767
NM_004320.6(ATP2A1):c.593G>T (p.Arg198Leu)
NM_004320.6(ATP2A1):c.610A>T (p.Lys204Ter)
NM_004320.6(ATP2A1):c.630+12G>A
NM_004320.6(ATP2A1):c.630+20C>G
NM_004320.6(ATP2A1):c.631-12T>C
NM_004320.6(ATP2A1):c.631-9C>G
NM_004320.6(ATP2A1):c.632G>T (p.Gly211Val)
NM_004320.6(ATP2A1):c.648C>A (p.Ala216=) rs773563767
NM_004320.6(ATP2A1):c.648C>T (p.Ala216=)
NM_004320.6(ATP2A1):c.649G>A (p.Gly217Ser)
NM_004320.6(ATP2A1):c.655G>A (p.Ala219Thr)
NM_004320.6(ATP2A1):c.664A>G (p.Ile222Val) rs2152203842
NM_004320.6(ATP2A1):c.667G>A (p.Val223Met) rs767886671
NM_004320.6(ATP2A1):c.671C>G (p.Ala224Gly)
NM_004320.6(ATP2A1):c.672C>T (p.Ala224=) rs2152203854
NM_004320.6(ATP2A1):c.678_679inv (p.Gly227Ser)
NM_004320.6(ATP2A1):c.689C>T (p.Thr230Ile) rs753502659
NM_004320.6(ATP2A1):c.691G>A (p.Glu231Lys) rs778514898
NM_004320.6(ATP2A1):c.6G>A (p.Glu2=)
NM_004320.6(ATP2A1):c.707G>A (p.Arg236Gln)
NM_004320.6(ATP2A1):c.711C>T (p.Asp237=)
NM_004320.6(ATP2A1):c.719C>T (p.Ala240Val) rs1963647063
NM_004320.6(ATP2A1):c.730C>A (p.Gln244Lys)
NM_004320.6(ATP2A1):c.735C>T (p.Asp245=)
NM_004320.6(ATP2A1):c.757C>A (p.Leu253Met) rs2152203930
NM_004320.6(ATP2A1):c.766T>G (p.Phe256Val) rs2152203938
NM_004320.6(ATP2A1):c.78G>A (p.Pro26=) rs886051878
NM_004320.6(ATP2A1):c.790A>G (p.Ile264Val)
NM_004320.6(ATP2A1):c.801C>T (p.Ile267=)
NM_004320.6(ATP2A1):c.808G>T (p.Ala270Ser)
NM_004320.6(ATP2A1):c.811G>C (p.Val271Leu)
NM_004320.6(ATP2A1):c.819T>G (p.Leu273=)
NM_004320.6(ATP2A1):c.81C>G (p.Asp27Glu)
NM_004320.6(ATP2A1):c.827T>C (p.Ile276Thr)
NM_004320.6(ATP2A1):c.836T>C (p.Phe279Ser)
NM_004320.6(ATP2A1):c.840C>A (p.Asn280Lys) rs145160426
NM_004320.6(ATP2A1):c.856G>A (p.Gly286Ser)
NM_004320.6(ATP2A1):c.883T>C (p.Tyr295His) rs1478867124
NM_004320.6(ATP2A1):c.888dup (p.Lys297Ter) rs759847914
NM_004320.6(ATP2A1):c.894T>C (p.Ile298=)
NM_004320.6(ATP2A1):c.898G>A (p.Val300Met) rs1401049227
NM_004320.6(ATP2A1):c.902_903insSVAelement
NM_004320.6(ATP2A1):c.909_920delinsACGGCATA (p.Val304fs) rs1555515558
NM_004320.6(ATP2A1):c.912G>A (p.Val304=)
NM_004320.6(ATP2A1):c.915T>G (p.Ala305=) rs1555515559
NM_004320.6(ATP2A1):c.916G>T (p.Ala306Ser)
NM_004320.6(ATP2A1):c.919A>G (p.Ile307Val) rs2152204093
NM_004320.6(ATP2A1):c.928+18T>C
NM_004320.6(ATP2A1):c.928+1dup rs2152204111
NM_004320.6(ATP2A1):c.928+9G>A
NM_004320.6(ATP2A1):c.929-13_929-6del rs1393011166
NM_004320.6(ATP2A1):c.929-23_929-12del rs551640234
NM_004320.6(ATP2A1):c.92G>A (p.Arg31Gln) rs1596658318
NM_004320.6(ATP2A1):c.937G>A (p.Ala313Thr) rs762549353
NM_004320.6(ATP2A1):c.938C>T (p.Ala313Val) rs1963688577
NM_004320.6(ATP2A1):c.958G>T (p.Ala320Ser) rs766101847
NM_004320.6(ATP2A1):c.963G>C (p.Leu321=) rs1218582887
NM_004320.6(ATP2A1):c.972T>C (p.Arg324=)
NM_004320.6(ATP2A1):c.973C>T (p.Arg325Trp)
NM_004320.6(ATP2A1):c.98T>A (p.Leu33Gln) rs1409431511
NM_004320.6(ATP2A1):c.9C>T (p.Ala3=)

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