ClinVar Miner

List of variants in gene ATP2A1 reported as likely benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 319
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HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.1764+6del rs66716803 0.06704
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn) rs150721350 0.00069
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.2862+20G>C rs377366848 0.00047
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.2943C>T (p.Asp981=) rs146599017 0.00026
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.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.870C>T (p.Arg290=) rs201786788 0.00012
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp) rs117350233 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.129T>C (p.Ala43=) rs750655997 0.00010
NM_004320.6(ATP2A1):c.1302T>C (p.Tyr434=) rs141198778 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.1411T>G (p.Cys471Gly) rs746779770 0.00007
NM_004320.6(ATP2A1):c.1014C>T (p.Ser338=) rs781190858 0.00006
NM_004320.6(ATP2A1):c.1218G>A (p.Gln406=) rs577190575 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.2121C>T (p.Asp707=) rs767129999 0.00006
NM_004320.6(ATP2A1):c.2403G>A (p.Gly801=) rs574802332 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.1224C>T (p.Asp408=) rs143812356 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.2958C>T (p.Phe986=) rs374856682 0.00005
NM_004320.6(ATP2A1):c.579C>T (p.Pro193=) rs764289898 0.00005
NM_004320.6(ATP2A1):c.1191G>A (p.Lys397=) rs145788219 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.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.897C>T (p.Ala299=) rs545916900 0.00004
NM_004320.6(ATP2A1):c.1254C>T (p.Ala418=) rs774977203 0.00003
NM_004320.6(ATP2A1):c.1620G>A (p.Pro540=) rs184560545 0.00003
NM_004320.6(ATP2A1):c.1851C>T (p.Ala617=) rs140547832 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.2400C>T (p.Asp800=) rs756299309 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.417G>A (p.Arg139=) rs753721392 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.1314C>T (p.Gly438=) rs757274362 0.00002
NM_004320.6(ATP2A1):c.1419+11G>A rs202196733 0.00002
NM_004320.6(ATP2A1):c.1641G>A (p.Ala547=) rs1387468030 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.2321+19G>A rs375528300 0.00002
NM_004320.6(ATP2A1):c.261C>T (p.Ala87=) rs765602202 0.00002
NM_004320.6(ATP2A1):c.2682C>T (p.Pro894=) rs148569629 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.2744+8C>T rs753074477 0.00002
NM_004320.6(ATP2A1):c.2748G>A (p.Leu916=) rs750480672 0.00002
NM_004320.6(ATP2A1):c.324+12C>T rs934091227 0.00002
NM_004320.6(ATP2A1):c.690C>T (p.Thr230=) rs756854250 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.1006T>C (p.Leu336=) rs747160165 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+16dup rs753412368 0.00001
NM_004320.6(ATP2A1):c.1284C>T (p.Asn428=) rs754711450 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.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.1419+10C>T rs1015367876 0.00001
NM_004320.6(ATP2A1):c.1420-6C>T rs778904545 0.00001
NM_004320.6(ATP2A1):c.1545+11G>A rs748533882 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.201G>A (p.Leu67=) rs1459156708 0.00001
NM_004320.6(ATP2A1):c.207A>C (p.Ala69=) rs767648658 0.00001
NM_004320.6(ATP2A1):c.220-14C>T rs772144515 0.00001
NM_004320.6(ATP2A1):c.2253C>T (p.Arg751=) rs759011501 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.2367G>A (p.Pro789=) rs776296218 0.00001
NM_004320.6(ATP2A1):c.2424C>T (p.Gly808=) rs745735448 0.00001
NM_004320.6(ATP2A1):c.2457C>T (p.Arg819=) rs747759395 0.00001
NM_004320.6(ATP2A1):c.2520C>T (p.Ile840=) rs758221964 0.00001
NM_004320.6(ATP2A1):c.2574C>T (p.Tyr858=) rs368234110 0.00001
NM_004320.6(ATP2A1):c.2610+20G>A rs1268395192 0.00001
NM_004320.6(ATP2A1):c.2634G>A (p.Glu878=) rs763991120 0.00001
NM_004320.6(ATP2A1):c.2649T>C (p.Phe883=) rs750115237 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.2772G>A (p.Arg924=) rs748003836 0.00001
NM_004320.6(ATP2A1):c.2835C>T (p.Phe945=) rs776951772 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.324+7G>A rs373459786 0.00001
NM_004320.6(ATP2A1):c.324+8T>C rs986557403 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.435C>T (p.Ile145=) rs755237937 0.00001
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=) rs781369773 0.00001
NM_004320.6(ATP2A1):c.463+10A>G rs920913786 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.660G>A (p.Leu220=) rs1963645121 0.00001
NM_004320.6(ATP2A1):c.66G>A (p.Thr22=) rs780688111 0.00001
NM_004320.6(ATP2A1):c.929-14C>T rs1456894931 0.00001
NM_004320.6(ATP2A1):c.*38-14_*38-13del rs747872347
NM_004320.6(ATP2A1):c.*38-20C>T
NM_004320.6(ATP2A1):c.*48T>C
NM_004320.6(ATP2A1):c.1050C>G (p.Ser350=)
NM_004320.6(ATP2A1):c.1050C>T (p.Ser350=)
NM_004320.6(ATP2A1):c.1071C>T (p.Thr357=) rs966842136
NM_004320.6(ATP2A1):c.108C>T (p.Tyr36=)
NM_004320.6(ATP2A1):c.1095+13G>A
NM_004320.6(ATP2A1):c.1096-10T>C
NM_004320.6(ATP2A1):c.1107T>C (p.Ile369=)
NM_004320.6(ATP2A1):c.1158C>T (p.Gly386=) rs1555516283
NM_004320.6(ATP2A1):c.118+14G>A
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.1237C>T (p.Leu413=) rs2152209404
NM_004320.6(ATP2A1):c.1257C>T (p.Leu419=)
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.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.137-11dup
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.1407C>T (p.Asn469=)
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.1422G>C (p.Val474=)
NM_004320.6(ATP2A1):c.144C>G (p.Thr48=)
NM_004320.6(ATP2A1):c.1470C>T (p.Asp490=)
NM_004320.6(ATP2A1):c.1539T>C (p.Phe513=) rs2152211605
NM_004320.6(ATP2A1):c.1545+7A>G rs2152211617
NM_004320.6(ATP2A1):c.1546-17C>T
NM_004320.6(ATP2A1):c.1546-8T>C rs2152211664
NM_004320.6(ATP2A1):c.1546-9G>T
NM_004320.6(ATP2A1):c.1566C>T (p.Ile522=) rs1249392655
NM_004320.6(ATP2A1):c.1587A>T (p.Arg529=)
NM_004320.6(ATP2A1):c.159G>C (p.Val53=)
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.1671C>T (p.Asp557=)
NM_004320.6(ATP2A1):c.1675C>T (p.Leu559=)
NM_004320.6(ATP2A1):c.1686G>A (p.Leu562=)
NM_004320.6(ATP2A1):c.1695C>A (p.Ala565=)
NM_004320.6(ATP2A1):c.1699C>A (p.Arg567=)
NM_004320.6(ATP2A1):c.1707C>G (p.Thr569=) rs2152211818
NM_004320.6(ATP2A1):c.1713G>T (p.Pro571=)
NM_004320.6(ATP2A1):c.1764+11G>A
NM_004320.6(ATP2A1):c.1764+7A>C rs949573285
NM_004320.6(ATP2A1):c.177C>T (p.Asp59=)
NM_004320.6(ATP2A1):c.1803C>T (p.Asp601=)
NM_004320.6(ATP2A1):c.1824G>A (p.Thr608=)
NM_004320.6(ATP2A1):c.1848C>T (p.Asp616=)
NM_004320.6(ATP2A1):c.1851C>A (p.Ala617=)
NM_004320.6(ATP2A1):c.1899T>C (p.Ile633=) rs150069670
NM_004320.6(ATP2A1):c.1914A>G (p.Arg638=)
NM_004320.6(ATP2A1):c.1947C>T (p.Ala649=)
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.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.204C>T (p.Ala68=) rs1555514590
NM_004320.6(ATP2A1):c.2073G>A (p.Leu691=)
NM_004320.6(ATP2A1):c.2100+12C>A rs2152213689
NM_004320.6(ATP2A1):c.2100+15del
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.2175C>T (p.Ala725=) rs1332742510
NM_004320.6(ATP2A1):c.219+10G>A
NM_004320.6(ATP2A1):c.219+20_219+21del
NM_004320.6(ATP2A1):c.2211C>T (p.Asp737=)
NM_004320.6(ATP2A1):c.2229C>T (p.Ile743=)
NM_004320.6(ATP2A1):c.2238T>C (p.Ala746=)
NM_004320.6(ATP2A1):c.2292C>T (p.Leu764=)
NM_004320.6(ATP2A1):c.2304C>T (p.Asn768=)
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.2340C>T (p.Ala780=) rs2152214529
NM_004320.6(ATP2A1):c.2377C>T (p.Leu793=)
NM_004320.6(ATP2A1):c.2397C>T (p.Thr799=)
NM_004320.6(ATP2A1):c.2475G>A (p.Lys825=) rs2152214663
NM_004320.6(ATP2A1):c.2487C>T (p.Ile829=)
NM_004320.6(ATP2A1):c.2490T>C (p.Ser830=)
NM_004320.6(ATP2A1):c.2524+12G>T
NM_004320.6(ATP2A1):c.2524+20C>T
NM_004320.6(ATP2A1):c.2525-16C>T rs2152214855
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.2544C>A (p.Thr848=) rs370857311
NM_004320.6(ATP2A1):c.2544C>T (p.Thr848=)
NM_004320.6(ATP2A1):c.2580G>A (p.Glu860=)
NM_004320.6(ATP2A1):c.258T>C (p.Thr86=)
NM_004320.6(ATP2A1):c.2607G>A (p.Gln869=) rs2152214949
NM_004320.6(ATP2A1):c.2610+12C>T
NM_004320.6(ATP2A1):c.2610+13C>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>G
NM_004320.6(ATP2A1):c.2611-16C>T rs770270064
NM_004320.6(ATP2A1):c.2625G>A (p.Gln875=)
NM_004320.6(ATP2A1):c.2744+14A>C
NM_004320.6(ATP2A1):c.2744+19C>T
NM_004320.6(ATP2A1):c.2745-15C>A
NM_004320.6(ATP2A1):c.2745-17C>T
NM_004320.6(ATP2A1):c.2764C>T (p.Leu922=) rs2152215341
NM_004320.6(ATP2A1):c.2800C>T (p.Leu934=)
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.2853C>T (p.Asp951=) rs758438542
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.2863-18G>A
NM_004320.6(ATP2A1):c.2868C>T (p.Ile956=) rs2152215585
NM_004320.6(ATP2A1):c.2940C>T (p.Leu980=)
NM_004320.6(ATP2A1):c.294C>T (p.Leu98=)
NM_004320.6(ATP2A1):c.2967G>C (p.Arg989=)
NM_004320.6(ATP2A1):c.2980+12C>T rs2152215707
NM_004320.6(ATP2A1):c.2980+13CT[2] rs757352285
NM_004320.6(ATP2A1):c.2980+15C>T
NM_004320.6(ATP2A1):c.325-11T>C
NM_004320.6(ATP2A1):c.325-20C>T
NM_004320.6(ATP2A1):c.333C>T (p.Asn111=)
NM_004320.6(ATP2A1):c.348C>T (p.Ile116=)
NM_004320.6(ATP2A1):c.381G>C (p.Gly127=)
NM_004320.6(ATP2A1):c.405G>A (p.Lys135=) rs1596664460
NM_004320.6(ATP2A1):c.459G>A (p.Val153=)
NM_004320.6(ATP2A1):c.463+11G>A
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.498C>T (p.Leu166=)
NM_004320.6(ATP2A1):c.513C>A (p.Thr171=) rs1596666824
NM_004320.6(ATP2A1):c.516G>A (p.Thr172=)
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.545-17T>C
NM_004320.6(ATP2A1):c.545-20C>A rs2152203555
NM_004320.6(ATP2A1):c.545-9T>A
NM_004320.6(ATP2A1):c.570C>T (p.His190=) rs2152203600
NM_004320.6(ATP2A1):c.588C>T (p.Asp196=) rs1438007737
NM_004320.6(ATP2A1):c.591C>T (p.Pro197=) rs765428774
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.631-8C>T
NM_004320.6(ATP2A1):c.631-9C>G
NM_004320.6(ATP2A1):c.648C>A (p.Ala216=) rs773563767
NM_004320.6(ATP2A1):c.648C>T (p.Ala216=)
NM_004320.6(ATP2A1):c.654G>A (p.Lys218=)
NM_004320.6(ATP2A1):c.672C>T (p.Ala224=) rs2152203854
NM_004320.6(ATP2A1):c.6G>A (p.Glu2=)
NM_004320.6(ATP2A1):c.711C>T (p.Asp237=)
NM_004320.6(ATP2A1):c.735C>T (p.Asp245=)
NM_004320.6(ATP2A1):c.78G>A (p.Pro26=) rs886051878
NM_004320.6(ATP2A1):c.801C>T (p.Ile267=)
NM_004320.6(ATP2A1):c.804T>C (p.Cys268=)
NM_004320.6(ATP2A1):c.819T>G (p.Leu273=)
NM_004320.6(ATP2A1):c.894T>C (p.Ile298=)
NM_004320.6(ATP2A1):c.90G>A (p.Lys30=)
NM_004320.6(ATP2A1):c.912G>A (p.Val304=)
NM_004320.6(ATP2A1):c.915T>G (p.Ala305=) rs1555515559
NM_004320.6(ATP2A1):c.924C>T (p.Pro308=)
NM_004320.6(ATP2A1):c.928+18T>C
NM_004320.6(ATP2A1):c.928+9G>A
NM_004320.6(ATP2A1):c.929-13_929-6del rs1393011166
NM_004320.6(ATP2A1):c.963G>C (p.Leu321=) rs1218582887
NM_004320.6(ATP2A1):c.972T>C (p.Arg324=)
NM_004320.6(ATP2A1):c.9C>A (p.Ala3=)
NM_004320.6(ATP2A1):c.9C>T (p.Ala3=)

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