ClinVar Miner

List of variants studied for alternating hemiplegia

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 703
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.13-22T>C rs2854246 0.99954
NM_000702.4(ATP1A2):c.495+65T>C rs2820582 0.96234
NM_000702.4(ATP1A2):c.381+16C>T rs2820581 0.95274
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_000702.4(ATP1A2):c.1017+56G>A rs6695366 0.84545
NM_000702.4(ATP1A2):c.1326+49dup rs5778151 0.81329
NM_152296.5(ATP1A3):c.*39C>G rs919390 0.69962
NM_000702.4(ATP1A2):c.748+84T>A rs7548116 0.58333
NM_000702.4(ATP1A2):c.495+81T>A rs2854248 0.39961
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_000702.4(ATP1A2):c.*2259T>A rs3747625 0.21913
NM_000702.4(ATP1A2):c.*1026A>G rs2070704 0.21697
NM_000702.4(ATP1A2):c.*1095T>A rs56199408 0.21686
NM_000702.4(ATP1A2):c.*1629T>C rs1046995 0.21680
NM_000702.4(ATP1A2):c.*746C>T rs62620182 0.21625
NM_000702.4(ATP1A2):c.*748C>T rs2070703 0.21623
NM_000702.4(ATP1A2):c.*589G>C rs2070702 0.20323
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_000702.4(ATP1A2):c.495+96G>A rs17846707 0.15041
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_000702.4(ATP1A2):c.2943-47C>G rs17846717 0.13239
NM_000702.4(ATP1A2):c.2943-27G>C rs17846718 0.13234
NM_000702.4(ATP1A2):c.3034+14C>T rs41288127 0.13198
NM_000702.4(ATP1A2):c.*686G>A rs55843060 0.12407
NM_000702.4(ATP1A2):c.*1548C>T rs56003400 0.10471
NM_000702.4(ATP1A2):c.*1547G>T rs55845795 0.10469
NM_000702.4(ATP1A2):c.2709+26G>A rs12083034 0.10249
NM_000702.4(ATP1A2):c.177+95T>C rs17846705 0.09326
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_000702.4(ATP1A2):c.382-85G>A rs41265763 0.09102
NM_000702.4(ATP1A2):c.*1280G>A rs4656884 0.05514
NM_000702.4(ATP1A2):c.*621A>G rs12077973 0.03640
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_000702.4(ATP1A2):c.*253C>T rs78930771 0.03535
NM_000702.4(ATP1A2):c.*546G>A rs62621782 0.03531
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02789
NM_000702.4(ATP1A2):c.*682T>C rs60949592 0.02374
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_000702.4(ATP1A2):c.*1780G>A rs74123255 0.02185
NM_000702.4(ATP1A2):c.*703G>A rs57902482 0.01488
NM_000702.4(ATP1A2):c.*1284C>T rs78507938 0.01486
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495 0.00802
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_000702.4(ATP1A2):c.*72G>A rs2070701 0.00654
NM_000702.4(ATP1A2):c.*1781C>T rs116744472 0.00585
NM_000702.4(ATP1A2):c.-48C>G rs41265761 0.00414
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_000702.4(ATP1A2):c.*932T>C rs183455719 0.00347
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526 0.00323
NM_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_000702.4(ATP1A2):c.*1000T>G rs116194737 0.00242
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_152296.5(ATP1A3):c.1944-20G>T rs200665663 0.00216
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_000702.4(ATP1A2):c.2115+14C>T rs200854586 0.00168
NM_000702.4(ATP1A2):c.*1355C>T rs190096000 0.00166
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_000702.4(ATP1A2):c.*1212G>C rs558677583 0.00126
NM_000702.4(ATP1A2):c.*1207G>T rs566535472 0.00119
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_000702.4(ATP1A2):c.*86G>A rs368064571 0.00099
NM_000702.4(ATP1A2):c.*482A>C rs373029091 0.00097
NM_000702.4(ATP1A2):c.2284+18G>T rs369835706 0.00092
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_000702.4(ATP1A2):c.2709+11C>T rs115441094 0.00083
NM_000702.4(ATP1A2):c.*2073A>G rs373523004 0.00081
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00081
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=) rs113909283 0.00080
NM_000702.4(ATP1A2):c.178-21C>T rs199660548 0.00076
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592 0.00048
NM_000475.5(NR0B1):c.222A>G (p.Pro74=) rs1337374469 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_152296.5(ATP1A3):c.*236T>C rs199854166 0.00044
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_000702.4(ATP1A2):c.*286G>C rs542623068 0.00032
NM_000702.4(ATP1A2):c.*2223C>T rs866583777 0.00029
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_000702.4(ATP1A2):c.*142A>G rs117680524 0.00026
NM_000702.4(ATP1A2):c.*1835C>T rs774745308 0.00026
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_000702.4(ATP1A2):c.*1290T>C rs886045428 0.00019
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566 0.00019
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403 0.00019
NM_000702.4(ATP1A2):c.*73G>A rs368523013 0.00016
NM_000702.4(ATP1A2):c.1652-18C>A rs372842016 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021 0.00015
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 0.00014
NM_000702.4(ATP1A2):c.*2184A>G rs796180952 0.00014
NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln) rs139499540 0.00014
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys) rs770842444 0.00012
NM_000475.5(NR0B1):c.96G>C (p.Thr32=) rs752999448 0.00012
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 0.00011
NM_000702.4(ATP1A2):c.-70G>A rs569640199 0.00011
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_000702.4(ATP1A2):c.*120A>G rs886045419 0.00009
NM_000702.4(ATP1A2):c.*870G>A rs886045423 0.00009
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00009
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=) rs2288507 0.00009
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) rs372737275 0.00009
NM_152296.5(ATP1A3):c.607-7C>A rs782819736 0.00009
NM_000475.5(NR0B1):c.207C>T (p.Cys69=) rs1274628114 0.00008
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_000702.4(ATP1A2):c.*1461C>T rs971355280 0.00006
NM_000702.4(ATP1A2):c.*147C>T rs574763789 0.00006
NM_000702.4(ATP1A2):c.*175C>T rs886045421 0.00006
NM_000702.4(ATP1A2):c.*910A>G rs886045424 0.00006
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=) rs199621678 0.00006
NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=) rs771085157 0.00006
NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=) rs140646289 0.00006
NM_152296.4(ATP1A3):c.-186G>A rs886054478 0.00006
NM_152296.5(ATP1A3):c.*13C>A rs781878302 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=) rs141362710 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys) rs782229302 0.00006
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) rs766116884 0.00005
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser) rs776650491 0.00005
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) rs139229302 0.00005
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) rs201391210 0.00005
NM_152296.5(ATP1A3):c.786C>T (p.Thr262=) rs74581050 0.00005
NM_152296.5(ATP1A3):c.994-4C>G rs373698149 0.00005
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_000702.4(ATP1A2):c.*1356G>A rs538918257 0.00004
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=) rs759939624 0.00004
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00004
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 0.00004
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170 0.00004
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=) rs145869619 0.00004
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=) rs189555627 0.00004
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000475.5(NR0B1):c.324G>A (p.Ser108=) rs147442403 0.00003
NM_000702.4(ATP1A2):c.*511C>G rs907113046 0.00003
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=) rs374374188 0.00003
NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met) rs150465651 0.00003
NM_000702.4(ATP1A2):c.2116-14C>T rs748188822 0.00003
NM_000702.4(ATP1A2):c.2937G>T (p.Pro979=) rs201879002 0.00003
NM_152296.5(ATP1A3):c.*298C>T rs781980860 0.00003
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp) rs782415633 0.00003
NM_152296.5(ATP1A3):c.1806+14T>C rs377372631 0.00003
NM_152296.5(ATP1A3):c.2418+18C>T rs369674143 0.00003
NM_152296.5(ATP1A3):c.3013+12C>T rs782424595 0.00003
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) rs777276628 0.00002
NM_000702.4(ATP1A2):c.*1737C>T rs776064194 0.00002
NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=) rs763041955 0.00002
NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys) rs747283283 0.00002
NM_000702.4(ATP1A2):c.1572G>A (p.Glu524=) rs775192056 0.00002
NM_000702.4(ATP1A2):c.1578G>A (p.Pro526=) rs376128790 0.00002
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) rs143969080 0.00002
NM_000702.4(ATP1A2):c.360G>A (p.Glu120=) rs369061211 0.00002
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724 0.00002
NM_152296.5(ATP1A3):c.1192+3G>A rs374542368 0.00002
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=) rs148097195 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.2819+12G>A rs782653272 0.00002
NM_152296.5(ATP1A3):c.2819+3G>A rs782555113 0.00002
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00002
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn) rs1213986618 0.00001
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=) rs990602963 0.00001
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) rs572970359 0.00001
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly) rs745852247 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000475.5(NR0B1):c.764G>T (p.Cys255Phe) rs1001710892 0.00001
NM_000475.5(NR0B1):c.90A>G (p.Pro30=) rs777399647 0.00001
NM_000702.4(ATP1A2):c.*1630C>T rs886045433 0.00001
NM_000702.4(ATP1A2):c.*1712C>A rs1242345851 0.00001
NM_000702.4(ATP1A2):c.*1815G>C rs886045435 0.00001
NM_000702.4(ATP1A2):c.*1953T>C rs767882535 0.00001
NM_000702.4(ATP1A2):c.*535G>C rs961293073 0.00001
NM_000702.4(ATP1A2):c.*648A>G rs886045422 0.00001
NM_000702.4(ATP1A2):c.1098C>A (p.Gly366=) rs779356370 0.00001
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830 0.00001
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618 0.00001
NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) rs779985796 0.00001
NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn) rs749326394 0.00001
NM_000702.4(ATP1A2):c.1674A>G (p.Pro558=) rs769798147 0.00001
NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp) rs762330744 0.00001
NM_000702.4(ATP1A2):c.192G>T (p.Gln64His) rs796052282 0.00001
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln) rs745824475 0.00001
NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu) rs145701604 0.00001
NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser) rs200425518 0.00001
NM_000702.4(ATP1A2):c.2115+8C>T rs768746868 0.00001
NM_000702.4(ATP1A2):c.2285-7C>T rs915777286 0.00001
NM_000702.4(ATP1A2):c.2563+15G>A rs528454399 0.00001
NM_000702.4(ATP1A2):c.2564-14C>T rs775031246 0.00001
NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr) rs794727222 0.00001
NM_000702.4(ATP1A2):c.285C>T (p.Phe95=) rs886045415 0.00001
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.45G>A (p.Thr15=) rs764559670 0.00001
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=) rs533663836 0.00001
NM_000702.4(ATP1A2):c.748+3G>A rs767929498 0.00001
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp) rs782423325 0.00001
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=) rs370511776 0.00001
NM_152296.5(ATP1A3):c.1218C>T (p.His406=) rs1238469762 0.00001
NM_152296.5(ATP1A3):c.1303-15C>A rs782749835 0.00001
NM_152296.5(ATP1A3):c.153+7C>T rs782082118 0.00001
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly) rs2075172328 0.00001
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=) rs886054473 0.00001
NM_152296.5(ATP1A3):c.2418+9T>A rs950336124 0.00001
NM_152296.5(ATP1A3):c.2688+11C>A rs782430886 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=) rs782662538 0.00001
NM_152296.5(ATP1A3):c.776G>A (p.Arg259His) rs1599722721 0.00001
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=) rs782140994 0.00001
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
NC_000023.10:g.(?_28807461)_(33229429_?)dup
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.10:g.(?_30322696)_(30327480_?)dup
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NC_000023.11:g.(?_30304579)_(30309363_?)del
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
NC_000023.11:g.30307936_30311263del
NG_009814.1:g.(?_4989)_(10173_?)del
NM_000475.5(NR0B1):c.1004C>A (p.Pro335His)
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
NM_000475.5(NR0B1):c.1006dup (p.Val336fs) rs1926565039
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
NM_000475.5(NR0B1):c.1034C>A (p.Pro345Gln)
NM_000475.5(NR0B1):c.1037_1038insA (p.Ala347fs)
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) rs1926563553
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
NM_000475.5(NR0B1):c.1067C>T (p.Ser356Phe)
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1099_1100insT (p.Lys367fs)
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter) rs104894908
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter) rs104894886
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs) rs1555972957
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp) rs104894900
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His) rs104894899
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn) rs104894896
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
NM_000475.5(NR0B1):c.1168+10C>G
NM_000475.5(NR0B1):c.1168+13dup
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1168+1del rs2147006209
NM_000475.5(NR0B1):c.1168+7G>T
NM_000475.5(NR0B1):c.1169-10C>T
NM_000475.5(NR0B1):c.1169-112_*17delinsTG rs1555972632
NM_000475.5(NR0B1):c.1169-1G>A rs1555972666
NM_000475.5(NR0B1):c.1169-1G>T
NM_000475.5(NR0B1):c.1169-8C>A
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter) rs1569269179
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter) rs104894894
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter) rs104894906
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1234A>G (p.Ser412Gly)
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer) rs1555972655
NM_000475.5(NR0B1):c.1235G>A (p.Ser412Asn)
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
NM_000475.5(NR0B1):c.1267del (p.His423fs) rs1569268048
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly)
NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile) rs387907373
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
NM_000475.5(NR0B1):c.1284A>T (p.Glu428Asp)
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter)
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=) rs2147004349
NM_000475.5(NR0B1):c.1314C>T (p.Phe438=)
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser) rs104894897
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile) rs28935481
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
NM_000475.5(NR0B1):c.1326T>C (p.Asn442=)
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro) rs1555972641
NM_000475.5(NR0B1):c.1346T>C (p.Phe449Ser)
NM_000475.5(NR0B1):c.1349G>A (p.Arg450Lys)
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs) rs1555972640
NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln) rs1926485824
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs) rs2147007424
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) rs1926602170
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
NM_000475.5(NR0B1):c.184dup (p.Leu62fs)
NM_000475.5(NR0B1):c.18C>T (p.His6=)
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu) rs1926600775
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
NM_000475.5(NR0B1):c.215_218dup (p.His73fs) rs1926599738
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) rs2147007353
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
NM_000475.5(NR0B1):c.237C>A (p.Ile79=) rs2147007339
NM_000475.5(NR0B1):c.252G>C (p.Leu84=) rs1192762456
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
NM_000475.5(NR0B1):c.255G>T (p.Thr85=) rs759371222
NM_000475.5(NR0B1):c.257G>A (p.Ser86Asn)
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.5(NR0B1):c.274G>C (p.Ala92Pro)
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
NM_000475.5(NR0B1):c.277del (p.Ala93fs) rs1555973189
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) rs1569269085
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
NM_000475.5(NR0B1):c.308C>T (p.Pro103Leu)
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter) rs132630327
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
NM_000475.5(NR0B1):c.343G>T (p.Val115Leu)
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
NM_000475.5(NR0B1):c.382C>G (p.Leu128Val)
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
NM_000475.5(NR0B1):c.434T>C (p.Ile145Thr)
NM_000475.5(NR0B1):c.444C>T (p.Ser148=)
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
NM_000475.5(NR0B1):c.471C>T (p.His157=)
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
NM_000475.5(NR0B1):c.494C>A (p.Ala165Glu)
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs) rs2147007005
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter) rs104894891
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter) rs1555973132
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
NM_000475.5(NR0B1):c.543del (p.Gly183fs) rs1555973120
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs) rs1555973119
NM_000475.5(NR0B1):c.548G>A (p.Gly183Asp)
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer) rs1555973117
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs) rs1555973115
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
NM_000475.5(NR0B1):c.564_567dup (p.Gly190fs)
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
NM_000475.5(NR0B1):c.582G>C (p.Ala194=) rs1275730944
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter) rs104894898
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) rs1569268891
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
NM_000475.5(NR0B1):c.603_604del (p.Phe201fs)
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
NM_000475.5(NR0B1):c.617del (p.His206fs)
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs) rs1555973091
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
NM_000475.5(NR0B1):c.650C>G (p.Pro217Arg)
NM_000475.5(NR0B1):c.652dup (p.Thr218fs) rs1555973092
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
NM_000475.5(NR0B1):c.686A>G (p.Glu229Gly)
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter) rs104894889
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
NM_000475.5(NR0B1):c.754del (p.Gln252fs) rs1555973063
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter) rs1311271225
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp) rs1555973058
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
NM_000475.5(NR0B1):c.781G>A (p.Gly261Ser)
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) rs1926571373
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter) rs104894887
NM_000475.5(NR0B1):c.793A>G (p.Thr265Ala)
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) rs2147006592
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
NM_000475.5(NR0B1):c.805G>C (p.Val269Leu)
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp) rs1555973045
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly) rs1555973045
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter) rs104894895
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter) rs753734546
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
NM_000475.5(NR0B1):c.835C>T (p.Pro279Ser)
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter) rs1555973031
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter) rs104894890
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1]) rs1601792367
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg) rs1555973021
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser) rs1489209061
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys) rs28935482
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro) rs2147006470
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
NM_000475.5(NR0B1):c.900C>T (p.Ala300=)
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
NM_000475.5(NR0B1):c.919G>C (p.Glu307Gln)
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter) rs1555972994
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
NM_000475.5(NR0B1):c.986_987delinsA (p.Gly329fs) rs1926565907
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
NM_000702.3(ATP1A2):c.-146G>A rs1651151470
NM_000702.4(ATP1A2):c.*1000T>A rs116194737
NM_000702.4(ATP1A2):c.*1007G>C rs1652178478
NM_000702.4(ATP1A2):c.*1035A>G rs886045425
NM_000702.4(ATP1A2):c.*1211C>A rs62621216
NM_000702.4(ATP1A2):c.*1241del rs886045426
NM_000702.4(ATP1A2):c.*1245A>C rs886045427
NM_000702.4(ATP1A2):c.*1284C>A rs78507938
NM_000702.4(ATP1A2):c.*1333dup rs538086614
NM_000702.4(ATP1A2):c.*143G>T rs886045420
NM_000702.4(ATP1A2):c.*1482del rs886045430
NM_000702.4(ATP1A2):c.*1496del rs138196662
NM_000702.4(ATP1A2):c.*1547_*1548delinsTT rs886045432
NM_000702.4(ATP1A2):c.*1643_*1646del rs533473532
NM_000702.4(ATP1A2):c.*18C>T rs886045418
NM_000702.4(ATP1A2):c.*2065G>A rs886045436
NM_000702.4(ATP1A2):c.*2070C>T rs886045437
NM_000702.4(ATP1A2):c.*2147T>G rs886045438
NM_000702.4(ATP1A2):c.*25T>C rs768950032
NM_000702.4(ATP1A2):c.*383C>T rs528397631
NM_000702.4(ATP1A2):c.*488G>T rs765388921
NM_000702.4(ATP1A2):c.*850C>T rs779877049
NM_000702.4(ATP1A2):c.1010C>T (p.Thr337Ile)
NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp) rs1057518514
NM_000702.4(ATP1A2):c.1104G>A (p.Thr368=) rs138766432
NM_000702.4(ATP1A2):c.111G>A (p.Val37=) rs886045414
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=) rs547954866
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.1326+8del rs763762298
NM_000702.4(ATP1A2):c.1363C>A (p.Leu455Ile) rs1490998665
NM_000702.4(ATP1A2):c.1651+49C>T rs57074721
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1652-7C>G rs200102433
NM_000702.4(ATP1A2):c.1843G>A (p.Gly615Arg) rs770053423
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg) rs1057521886
NM_000702.4(ATP1A2):c.1930C>T (p.Arg644Trp) rs150784486
NM_000702.4(ATP1A2):c.2014T>A (p.Ser672Thr) rs1651897433
NM_000702.4(ATP1A2):c.2254T>A (p.Phe752Ile)
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn) rs2101995480
NM_000702.4(ATP1A2):c.2444C>G (p.Pro815Arg)
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.253C>T (p.Pro85Ser) rs1448339977
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr) rs1553245907
NM_000702.4(ATP1A2):c.2745C>T (p.Cys915=) rs1651972956
NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met) rs373276446
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys) rs1558009266
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs) rs1651974671
NM_000702.4(ATP1A2):c.2841-20dup rs397775888
NM_000702.4(ATP1A2):c.2935_2936delinsAA (p.Pro979Lys)
NM_000702.4(ATP1A2):c.2936C>G (p.Pro979Arg)
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.3034+61G>A rs55884181
NM_000702.4(ATP1A2):c.36dup (p.Ala13fs)
NM_000702.4(ATP1A2):c.433T>C (p.Ser145Pro) rs2101985906
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=) rs553035942
NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile) rs867416764
NM_000702.4(ATP1A2):c.631-16A>G rs571618030
NM_000702.4(ATP1A2):c.631-6C>T rs886045416
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=) rs564452950
NM_000702.4(ATP1A2):c.719T>A (p.Ile240Asn) rs1651548209
NM_000702.4(ATP1A2):c.754G>A (p.Ala252Thr) rs886045417
NM_000702.4(ATP1A2):c.841C>A (p.Pro281Thr)
NM_000702.4(ATP1A2):c.879C>G (p.Ile293Met) rs1553244746
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_001127222.2(CACNA1A):c.1123G>C (p.Ala375Pro)
NM_001127222.2(CACNA1A):c.1914-2A>C
NM_152296.5(ATP1A3):c.*206T>C rs1197209551
NM_152296.5(ATP1A3):c.*247C>T rs565195548
NM_152296.5(ATP1A3):c.*280T>A rs886054472
NM_152296.5(ATP1A3):c.*99C>G rs1555858636
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1004C>A (p.Thr335Lys) rs1131691940
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
NM_152296.5(ATP1A3):c.1028G>A (p.Arg343Gln)
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr) rs2145972483
NM_152296.5(ATP1A3):c.1090T>C (p.Cys364Arg) rs2075237136
NM_152296.5(ATP1A3):c.1111C>G (p.Leu371Val)
NM_152296.5(ATP1A3):c.1165G>A (p.Glu389Lys) rs1555863623
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.1349T>G (p.Ile450Ser)
NM_152296.5(ATP1A3):c.1475G>A (p.Arg492Gln)
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=) rs886054476
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=) rs886054474
NM_152296.5(ATP1A3):c.1756C>T (p.Arg586Trp) rs1555862098
NM_152296.5(ATP1A3):c.1790G>C (p.Arg597Pro)
NM_152296.5(ATP1A3):c.1801A>R (p.Ile601Xaa)
NM_152296.5(ATP1A3):c.1806+12G>C rs1555862070
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=) rs376852509
NM_152296.5(ATP1A3):c.2071A>C (p.Ile691Leu)
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=) rs2075159123
NM_152296.5(ATP1A3):c.2146AAG[1] (p.Lys717del) rs1064795403
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp) rs2075158829
NM_152296.5(ATP1A3):c.2266C>A (p.Arg756Ser)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2330T>A (p.Ile777Asn) rs1599706522
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His) rs80356537
NM_152296.5(ATP1A3):c.2407G>A (p.Gly803Ser) rs2075090666
NM_152296.5(ATP1A3):c.2423C>T (p.Pro808Leu)
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2527G>A (p.Ala843Thr)
NM_152296.5(ATP1A3):c.2528C>A (p.Ala843Asp)
NM_152296.5(ATP1A3):c.2542+1G>A rs606231441
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=) rs782539594
NM_152296.5(ATP1A3):c.2759A>G (p.Gln920Arg) rs2075071667
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr) rs606231444
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.2840G>A (p.Gly947Glu) rs886041431
NM_152296.5(ATP1A3):c.2926A>G (p.Ser976Gly)
NM_152296.5(ATP1A3):c.2933G>A (p.Trp978Ter)
NM_152296.5(ATP1A3):c.29C>T (p.Ser10Leu)
NM_152296.5(ATP1A3):c.3019G>A (p.Val1007Met)
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) rs542652468
NM_152296.5(ATP1A3):c.607-3C>T rs886054475
NM_152296.5(ATP1A3):c.650G>A (p.Arg217His)
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu) rs782230953
NM_152296.5(ATP1A3):c.725-6C>T rs782647558
NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) rs80356532
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met) rs529241207
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) rs797044897
NM_152296.5(ATP1A3):c.991A>C (p.Thr331Pro)
NM_152296.5(ATP1A3):c.998G>A (p.Cys333Tyr)
NR0B1, 1-BP INS, 430G

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