ClinVar Miner

List of variants studied for Familial hemiplegic migraine

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Total variants: 1072
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.381+16C>T rs2820581 0.95274
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_000702.4(ATP1A2):c.3034+14C>T rs41288127 0.13198
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_001165963.4(SCN1A):c.*172dup rs113696479 0.03631
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
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.1980C>T (p.Cys660=) rs61734529 0.02220
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526 0.00323
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_000702.4(ATP1A2):c.2115+14C>T rs200854586 0.00168
NM_000702.4(ATP1A2):c.2284+18G>T rs369835706 0.00092
NM_000702.4(ATP1A2):c.2709+11C>T rs115441094 0.00083
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00081
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_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892 0.00056
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592 0.00048
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529 0.00024
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_000702.4(ATP1A2):c.1652-8C>T rs370023134 0.00022
NM_000702.4(ATP1A2):c.1964+14A>G rs201131020 0.00022
NM_000702.4(ATP1A2):c.862C>T (p.His288Tyr) rs754699681 0.00022
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887 0.00020
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.2229C>T (p.Ala743=) rs138381089 0.00017
NM_000702.4(ATP1A2):c.1594C>G (p.Gln532Glu) rs575299887 0.00016
NM_000702.4(ATP1A2):c.1652-18C>A rs372842016 0.00016
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021 0.00015
NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln) rs139499540 0.00014
NM_000702.4(ATP1A2):c.381+12C>T rs368856029 0.00014
NM_000702.4(ATP1A2):c.2790C>T (p.Asp930=) rs376259974 0.00012
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346 0.00011
NM_000702.4(ATP1A2):c.1017+20G>T rs370753875 0.00010
NM_000702.4(ATP1A2):c.1251G>C (p.Thr417=) rs142309356 0.00010
NM_000702.4(ATP1A2):c.1581C>G (p.Leu527=) rs371520433 0.00010
NM_000702.4(ATP1A2):c.2440-14C>T rs200630442 0.00010
NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser) rs529607288 0.00009
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_000702.4(ATP1A2):c.2868G>A (p.Leu956=) rs373694534 0.00009
NM_000702.4(ATP1A2):c.2070G>A (p.Thr690=) rs142865268 0.00008
NM_000702.4(ATP1A2):c.2116-13G>A rs201759755 0.00008
NM_000702.4(ATP1A2):c.765T>A (p.Ile255=) rs377281050 0.00008
NM_000702.4(ATP1A2):c.1332C>T (p.Asp444=) rs765455081 0.00007
NM_000702.4(ATP1A2):c.1965-9A>T rs774922813 0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_000702.4(ATP1A2):c.381T>C (p.Asn127=) rs139243866 0.00007
NM_000702.4(ATP1A2):c.1368G>A (p.Lys456=) rs369226331 0.00006
NM_000702.4(ATP1A2):c.152G>A (p.Arg51His) rs144106169 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.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=) rs140646289 0.00006
NM_000702.4(ATP1A2):c.2526G>A (p.Val842=) rs777716327 0.00006
NM_000702.4(ATP1A2):c.2563+14C>T rs371413060 0.00006
NM_000702.4(ATP1A2):c.2742G>A (p.Thr914=) rs201215311 0.00006
NM_000702.4(ATP1A2):c.3014T>C (p.Ile1005Thr) rs369228503 0.00006
NM_000702.4(ATP1A2):c.1287C>T (p.Ala429=) rs762571297 0.00005
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000702.4(ATP1A2):c.1651+18G>T rs368117263 0.00005
NM_000702.4(ATP1A2):c.1735A>G (p.Lys579Glu) rs535175099 0.00005
NM_000702.4(ATP1A2):c.2115+15G>A rs769939965 0.00005
NM_000702.4(ATP1A2):c.2116-8C>G rs367577421 0.00005
NM_000702.4(ATP1A2):c.2292G>C (p.Leu764=) rs753003302 0.00005
NM_000702.4(ATP1A2):c.2374A>G (p.Ile792Val) rs758749177 0.00005
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) rs139229302 0.00005
NM_000702.4(ATP1A2):c.987C>T (p.Asn329=) rs770381135 0.00005
NM_000702.4(ATP1A2):c.1018-11T>G rs371070057 0.00004
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=) rs759939624 0.00004
NM_000702.4(ATP1A2):c.1529G>A (p.Arg510His) rs755353911 0.00004
NM_000702.4(ATP1A2):c.1961C>A (p.Pro654His) rs886164050 0.00004
NM_000702.4(ATP1A2):c.205G>A (p.Val69Ile) rs558323868 0.00004
NM_000702.4(ATP1A2):c.2151C>T (p.Asn717=) rs140707454 0.00004
NM_000702.4(ATP1A2):c.2440-10C>T rs200145599 0.00004
NM_000702.4(ATP1A2):c.2562C>T (p.Ile854=) rs371086182 0.00004
NM_000702.4(ATP1A2):c.2563+5G>A rs763626030 0.00004
NM_000702.4(ATP1A2):c.44C>T (p.Thr15Met) rs371257019 0.00004
NM_000702.4(ATP1A2):c.61G>A (p.Gly21Ser) rs758613291 0.00004
NM_000702.4(ATP1A2):c.915C>T (p.Phe305=) rs376035600 0.00004
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00004
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=) rs374374188 0.00003
NM_000702.4(ATP1A2):c.1156G>A (p.Val386Ile) rs137878081 0.00003
NM_000702.4(ATP1A2):c.1284C>T (p.Arg428=) rs752479774 0.00003
NM_000702.4(ATP1A2):c.1288G>A (p.Val430Ile) rs370111257 0.00003
NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met) rs150465651 0.00003
NM_000702.4(ATP1A2):c.1541G>A (p.Arg514Gln) rs748654627 0.00003
NM_000702.4(ATP1A2):c.1691G>A (p.Arg564Gln) rs765936799 0.00003
NM_000702.4(ATP1A2):c.1891A>G (p.Ile631Val) rs201977531 0.00003
NM_000702.4(ATP1A2):c.2103A>T (p.Gly701=) rs963491650 0.00003
NM_000702.4(ATP1A2):c.2116-14C>T rs748188822 0.00003
NM_000702.4(ATP1A2):c.2136G>A (p.Thr712=) rs760213030 0.00003
NM_000702.4(ATP1A2):c.2181T>C (p.Ile727=) rs764960268 0.00003
NM_000702.4(ATP1A2):c.2271G>A (p.Thr757=) rs202094576 0.00003
NM_000702.4(ATP1A2):c.2439+6C>T rs374355050 0.00003
NM_000702.4(ATP1A2):c.2520G>A (p.Lys840=) rs587780283 0.00003
NM_000702.4(ATP1A2):c.2563+2T>C rs775008062 0.00003
NM_000702.4(ATP1A2):c.2683C>T (p.Leu895=) rs140057048 0.00003
NM_000702.4(ATP1A2):c.2710-10C>T rs1375129909 0.00003
NM_000702.4(ATP1A2):c.2710-19C>G rs757662486 0.00003
NM_000702.4(ATP1A2):c.2840+17A>G rs1469976277 0.00003
NM_000702.4(ATP1A2):c.2937G>T (p.Pro979=) rs201879002 0.00003
NM_000702.4(ATP1A2):c.2942+15C>T rs202210259 0.00003
NM_000702.4(ATP1A2):c.2942+19C>T rs187187416 0.00003
NM_000702.4(ATP1A2):c.3023G>A (p.Arg1008Gln) rs781023681 0.00003
NM_000702.4(ATP1A2):c.36C>T (p.Ala12=) rs767913105 0.00003
NM_000702.4(ATP1A2):c.537C>T (p.Asn179=) rs759406149 0.00003
NM_000702.4(ATP1A2):c.705G>A (p.Leu235=) rs1019036534 0.00003
NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=) rs763041955 0.00002
NM_000702.4(ATP1A2):c.1216+9G>C rs781497176 0.00002
NM_000702.4(ATP1A2):c.13-20G>A rs867285806 0.00002
NM_000702.4(ATP1A2):c.1308G>T (p.Glu436Asp) rs763770380 0.00002
NM_000702.4(ATP1A2):c.1326+7G>A rs751078196 0.00002
NM_000702.4(ATP1A2):c.1410C>G (p.Asp470Glu) rs533400580 0.00002
NM_000702.4(ATP1A2):c.1478G>A (p.Arg493Gln) rs773318002 0.00002
NM_000702.4(ATP1A2):c.1496G>A (p.Ser499Asn) rs767230468 0.00002
NM_000702.4(ATP1A2):c.1500C>T (p.His500=) rs140480795 0.00002
NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys) rs747283283 0.00002
NM_000702.4(ATP1A2):c.1546T>G (p.Ser516Ala) rs778274408 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.159C>T (p.Tyr53=) rs748066442 0.00002
NM_000702.4(ATP1A2):c.1650G>C (p.Leu550=) rs775807326 0.00002
NM_000702.4(ATP1A2):c.1700A>G (p.Lys567Arg) rs374724827 0.00002
NM_000702.4(ATP1A2):c.1710G>A (p.Thr570=) rs536168465 0.00002
NM_000702.4(ATP1A2):c.178-20G>A rs1306231956 0.00002
NM_000702.4(ATP1A2):c.1811G>A (p.Arg604Gln) rs747238010 0.00002
NM_000702.4(ATP1A2):c.1815C>T (p.Ser605=) rs771651622 0.00002
NM_000702.4(ATP1A2):c.1905C>T (p.Asn635=) rs767754595 0.00002
NM_000702.4(ATP1A2):c.2088C>T (p.Leu696=) rs151052102 0.00002
NM_000702.4(ATP1A2):c.2115+19G>A rs375635569 0.00002
NM_000702.4(ATP1A2):c.2211C>T (p.Asp737=) rs755403357 0.00002
NM_000702.4(ATP1A2):c.2319C>T (p.Ile773=) rs764544114 0.00002
NM_000702.4(ATP1A2):c.2391A>G (p.Leu797=) rs780434387 0.00002
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) rs143969080 0.00002
NM_000702.4(ATP1A2):c.2439+7G>A rs772837347 0.00002
NM_000702.4(ATP1A2):c.2709+13G>A rs371943114 0.00002
NM_000702.4(ATP1A2):c.275G>A (p.Arg92His) rs774275559 0.00002
NM_000702.4(ATP1A2):c.2769C>T (p.Ile923=) rs748438293 0.00002
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744 0.00002
NM_000702.4(ATP1A2):c.2942+16G>A rs776114360 0.00002
NM_000702.4(ATP1A2):c.2943-19T>A rs141966087 0.00002
NM_000702.4(ATP1A2):c.2977C>T (p.Leu993Phe) rs1303848624 0.00002
NM_000702.4(ATP1A2):c.3034+17T>G rs890218721 0.00002
NM_000702.4(ATP1A2):c.354C>T (p.Ala118=) rs765171580 0.00002
NM_000702.4(ATP1A2):c.360G>A (p.Glu120=) rs369061211 0.00002
NM_000702.4(ATP1A2):c.56G>T (p.Gly19Val) rs757373744 0.00002
NM_000702.4(ATP1A2):c.589G>A (p.Val197Ile) rs540087535 0.00002
NM_000702.4(ATP1A2):c.60C>T (p.Gly20=) rs746073352 0.00002
NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp) rs764917849 0.00002
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=) rs748890267 0.00002
NM_000702.4(ATP1A2):c.892G>C (p.Val298Leu) rs757867108 0.00002
NM_000702.4(ATP1A2):c.*1630C>T rs886045433 0.00001
NM_000702.4(ATP1A2):c.1017+10T>G rs774500282 0.00001
NM_000702.4(ATP1A2):c.1017+7G>A rs1438633873 0.00001
NM_000702.4(ATP1A2):c.1018-5A>G rs776327796 0.00001
NM_000702.4(ATP1A2):c.1029C>T (p.Thr343=) rs140363699 0.00001
NM_000702.4(ATP1A2):c.1042C>T (p.Arg348Cys) rs765818392 0.00001
NM_000702.4(ATP1A2):c.1043G>A (p.Arg348His) rs912419331 0.00001
NM_000702.4(ATP1A2):c.1083G>A (p.Ala361=) rs778171140 0.00001
NM_000702.4(ATP1A2):c.1098C>A (p.Gly366=) rs779356370 0.00001
NM_000702.4(ATP1A2):c.1110C>T (p.Thr370=) rs747219922 0.00001
NM_000702.4(ATP1A2):c.112G>A (p.Ala38Thr) rs201688946 0.00001
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830 0.00001
NM_000702.4(ATP1A2):c.1155C>T (p.Thr385=) rs759207376 0.00001
NM_000702.4(ATP1A2):c.1158C>T (p.Val386=) rs752381925 0.00001
NM_000702.4(ATP1A2):c.117+3G>A rs1333920511 0.00001
NM_000702.4(ATP1A2):c.1216+12C>T rs748392461 0.00001
NM_000702.4(ATP1A2):c.1216+8G>A rs755113025 0.00001
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618 0.00001
NM_000702.4(ATP1A2):c.1245G>A (p.Thr415=) rs756285165 0.00001
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640 0.00001
NM_000702.4(ATP1A2):c.126C>T (p.His42=) rs750571104 0.00001
NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) rs779985796 0.00001
NM_000702.4(ATP1A2):c.1283G>A (p.Arg428His) rs746478136 0.00001
NM_000702.4(ATP1A2):c.1285G>A (p.Ala429Thr) rs776086125 0.00001
NM_000702.4(ATP1A2):c.13-6C>A rs1345831901 0.00001
NM_000702.4(ATP1A2):c.1318G>T (p.Val440Leu) rs768088341 0.00001
NM_000702.4(ATP1A2):c.1326+13G>A rs753995041 0.00001
NM_000702.4(ATP1A2):c.1327-12C>G rs903572955 0.00001
NM_000702.4(ATP1A2):c.1328G>A (p.Arg443Gln) rs562278306 0.00001
NM_000702.4(ATP1A2):c.1382C>T (p.Ser461Phe) rs751491994 0.00001
NM_000702.4(ATP1A2):c.1422G>A (p.Lys474=) rs144538744 0.00001
NM_000702.4(ATP1A2):c.1426G>A (p.Ala476Thr) rs1325367634 0.00001
NM_000702.4(ATP1A2):c.1427C>T (p.Ala476Val) rs1651695022 0.00001
NM_000702.4(ATP1A2):c.1462-10G>C rs1409479382 0.00001
NM_000702.4(ATP1A2):c.1462-13G>A rs757012921 0.00001
NM_000702.4(ATP1A2):c.1473C>T (p.His491=) rs768902765 0.00001
NM_000702.4(ATP1A2):c.1488C>T (p.Ser496=) rs1389306585 0.00001
NM_000702.4(ATP1A2):c.1518G>A (p.Gly506=) rs778637759 0.00001
NM_000702.4(ATP1A2):c.1528C>T (p.Arg510Cys) rs750109401 0.00001
NM_000702.4(ATP1A2):c.1540C>T (p.Arg514Trp) rs781474239 0.00001
NM_000702.4(ATP1A2):c.1542G>A (p.Arg514=) rs41288125 0.00001
NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn) rs749326394 0.00001
NM_000702.4(ATP1A2):c.1574T>C (p.Ile525Thr) rs760642074 0.00001
NM_000702.4(ATP1A2):c.1577C>T (p.Pro526Leu) rs764078366 0.00001
NM_000702.4(ATP1A2):c.1589A>G (p.Glu530Gly) rs201296747 0.00001
NM_000702.4(ATP1A2):c.1590G>A (p.Glu530=) rs1042062045 0.00001
NM_000702.4(ATP1A2):c.1644T>C (p.Arg548=) rs1448554496 0.00001
NM_000702.4(ATP1A2):c.1647G>A (p.Val549=) rs1553245135 0.00001
NM_000702.4(ATP1A2):c.1661A>T (p.Gln554Leu) rs199749129 0.00001
NM_000702.4(ATP1A2):c.1679G>C (p.Gly560Ala) rs779448658 0.00001
NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp) rs762330744 0.00001
NM_000702.4(ATP1A2):c.1694G>A (p.Gly565Asp) rs759225094 0.00001
NM_000702.4(ATP1A2):c.1709C>T (p.Thr570Met) rs758815329 0.00001
NM_000702.4(ATP1A2):c.171G>C (p.Leu57=) rs1651388179 0.00001
NM_000702.4(ATP1A2):c.1731G>A (p.Thr577=) rs148228696 0.00001
NM_000702.4(ATP1A2):c.1806G>A (p.Lys602=) rs1553245180 0.00001
NM_000702.4(ATP1A2):c.1828-3T>C rs1651872567 0.00001
NM_000702.4(ATP1A2):c.1842C>T (p.Thr614=) rs760365280 0.00001
NM_000702.4(ATP1A2):c.1861G>A (p.Ala621Thr) rs1342951917 0.00001
NM_000702.4(ATP1A2):c.1866G>A (p.Lys622=) rs763242526 0.00001
NM_000702.4(ATP1A2):c.1881C>T (p.Gly627=) rs775031080 0.00001
NM_000702.4(ATP1A2):c.1911T>C (p.Thr637=) rs550181745 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.1959C>A (p.Asn653Lys) rs768301089 0.00001
NM_000702.4(ATP1A2):c.1964+13C>A rs776155328 0.00001
NM_000702.4(ATP1A2):c.1965-7C>A rs1651894187 0.00001
NM_000702.4(ATP1A2):c.1989C>T (p.His663=) rs765006961 0.00001
NM_000702.4(ATP1A2):c.1990G>A (p.Gly664Ser) rs1483366741 0.00001
NM_000702.4(ATP1A2):c.19C>T (p.Arg7Cys) rs761260548 0.00001
NM_000702.4(ATP1A2):c.2016G>A (p.Ser672=) rs762744089 0.00001
NM_000702.4(ATP1A2):c.204C>T (p.Asp68=) rs745431386 0.00001
NM_000702.4(ATP1A2):c.2055C>T (p.Ile685=) rs754490941 0.00001
NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser) rs200425518 0.00001
NM_000702.4(ATP1A2):c.20G>A (p.Arg7His) rs764755889 0.00001
NM_000702.4(ATP1A2):c.2115+8C>T rs768746868 0.00001
NM_000702.4(ATP1A2):c.2120C>A (p.Ala707Asp) rs1391181719 0.00001
NM_000702.4(ATP1A2):c.2123T>C (p.Ile708Thr) rs1341609289 0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000702.4(ATP1A2):c.2187T>C (p.Ile729=) rs751808345 0.00001
NM_000702.4(ATP1A2):c.2266G>A (p.Val756Ile) rs777895941 0.00001
NM_000702.4(ATP1A2):c.2280G>T (p.Glu760Asp) rs916068745 0.00001
NM_000702.4(ATP1A2):c.2284+8G>C rs763689415 0.00001
NM_000702.4(ATP1A2):c.2285-7C>T rs915777286 0.00001
NM_000702.4(ATP1A2):c.2289C>A (p.Arg763=) rs563607148 0.00001
NM_000702.4(ATP1A2):c.2346C>T (p.Pro782=) rs754391034 0.00001
NM_000702.4(ATP1A2):c.2427G>A (p.Leu809=) rs369916877 0.00001
NM_000702.4(ATP1A2):c.2439+13G>A rs1038003940 0.00001
NM_000702.4(ATP1A2):c.2460C>A (p.Ala820=) rs201669294 0.00001
NM_000702.4(ATP1A2):c.248C>T (p.Thr83Ile) rs763362150 0.00001
NM_000702.4(ATP1A2):c.254C>T (p.Pro85Leu) rs1300541222 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.2636G>A (p.Arg879Gln) rs761597771 0.00001
NM_000702.4(ATP1A2):c.2656G>A (p.Asp886Asn) rs757896422 0.00001
NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr) rs794727222 0.00001
NM_000702.4(ATP1A2):c.2709+17A>G rs961165805 0.00001
NM_000702.4(ATP1A2):c.2709+3G>A rs1409803053 0.00001
NM_000702.4(ATP1A2):c.2711C>G (p.Thr904Ser) rs746371415 0.00001
NM_000702.4(ATP1A2):c.274C>T (p.Arg92Cys) rs796052278 0.00001
NM_000702.4(ATP1A2):c.2840+5G>A rs1254965849 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.2880G>A (p.Ala960=) rs762969049 0.00001
NM_000702.4(ATP1A2):c.2887G>A (p.Ala963Thr) rs1057523245 0.00001
NM_000702.4(ATP1A2):c.2889C>G (p.Ala963=) rs150289737 0.00001
NM_000702.4(ATP1A2):c.2895C>G (p.Leu965=) rs200706103 0.00001
NM_000702.4(ATP1A2):c.291G>T (p.Gly97=) rs759566498 0.00001
NM_000702.4(ATP1A2):c.2926C>T (p.Arg976Cys) rs371742379 0.00001
NM_000702.4(ATP1A2):c.2942+20G>A rs759929964 0.00001
NM_000702.4(ATP1A2):c.2969C>T (p.Pro990Leu) rs775974337 0.00001
NM_000702.4(ATP1A2):c.3025T>C (p.Tyr1009His) rs747646476 0.00001
NM_000702.4(ATP1A2):c.3034+18C>T rs1307989572 0.00001
NM_000702.4(ATP1A2):c.3034+6C>A rs574788908 0.00001
NM_000702.4(ATP1A2):c.311T>C (p.Ile104Thr) rs760901258 0.00001
NM_000702.4(ATP1A2):c.375C>T (p.Asn125=) rs143906805 0.00001
NM_000702.4(ATP1A2):c.378C>T (p.Asp126=) rs1651482544 0.00001
NM_000702.4(ATP1A2):c.381+13G>A rs772082739 0.00001
NM_000702.4(ATP1A2):c.381+3G>A rs1651482706 0.00001
NM_000702.4(ATP1A2):c.45G>A (p.Thr15=) rs764559670 0.00001
NM_000702.4(ATP1A2):c.487G>A (p.Val163Ile) rs780646849 0.00001
NM_000702.4(ATP1A2):c.495+9G>T rs1057522630 0.00001
NM_000702.4(ATP1A2):c.513G>A (p.Arg171=) rs770882300 0.00001
NM_000702.4(ATP1A2):c.529C>A (p.Gln177Lys) rs372536727 0.00001
NM_000702.4(ATP1A2):c.586C>T (p.Arg196Cys) rs753517155 0.00001
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=) rs533663836 0.00001
NM_000702.4(ATP1A2):c.591C>T (p.Val197=) rs149251047 0.00001
NM_000702.4(ATP1A2):c.673C>T (p.Arg225Cys) rs757623691 0.00001
NM_000702.4(ATP1A2):c.681C>T (p.Pro227=) rs771930383 0.00001
NM_000702.4(ATP1A2):c.741T>C (p.Cys247=) rs371882060 0.00001
NM_000702.4(ATP1A2):c.748+3G>A rs767929498 0.00001
NM_000702.4(ATP1A2):c.749-16C>A rs201643946 0.00001
NM_000702.4(ATP1A2):c.758G>A (p.Arg253Lys) rs1429465691 0.00001
NM_000702.4(ATP1A2):c.764T>C (p.Ile255Thr) rs148666791 0.00001
NM_000702.4(ATP1A2):c.785G>A (p.Arg262Gln) rs769129830 0.00001
NM_000702.4(ATP1A2):c.7C>T (p.Arg3Cys) rs755450946 0.00001
NM_000702.4(ATP1A2):c.813C>T (p.Leu271=) rs747740289 0.00001
NM_000702.4(ATP1A2):c.814G>A (p.Ala272Thr) rs369898494 0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) rs121918617 0.00001
NM_000702.4(ATP1A2):c.888C>T (p.Val296=) rs767314566 0.00001
NM_000702.4(ATP1A2):c.916G>A (p.Val306Met) rs748881406 0.00001
NM_000702.4(ATP1A2):c.993T>G (p.Pro331=) rs773614984 0.00001
NC_000001.10:g.(?_160011163)_(160111132_?)dup
NC_000001.10:g.(?_160085652)_(160085683_?)dup
NC_000001.10:g.(?_160090676)_(160327063_?)dup
NC_000001.10:g.(?_160094906)_(160097630_?)del
NC_000001.10:g.(?_160104264)_(160111112_?)del
NM_000702.4(ATP1A2):c.*1241del rs886045426
NM_000702.4(ATP1A2):c.*1333dup rs538086614
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.1002T>C (p.Leu334=)
NM_000702.4(ATP1A2):c.1017+15C>T
NM_000702.4(ATP1A2):c.1017+3G>A rs554196702
NM_000702.4(ATP1A2):c.1017+9G>T rs1057521623
NM_000702.4(ATP1A2):c.1018-12T>C
NM_000702.4(ATP1A2):c.1018-15C>T
NM_000702.4(ATP1A2):c.1018-15_1018-13del rs1064795923
NM_000702.4(ATP1A2):c.1018-19T>C rs2101989055
NM_000702.4(ATP1A2):c.1018-4C>T rs1553244873
NM_000702.4(ATP1A2):c.1024C>T (p.Leu342=) rs1651662542
NM_000702.4(ATP1A2):c.1025T>A (p.Leu342Gln)
NM_000702.4(ATP1A2):c.1028C>T (p.Thr343Ile) rs1553244875
NM_000702.4(ATP1A2):c.1032G>A (p.Leu344=)
NM_000702.4(ATP1A2):c.1036G>A (p.Ala346Thr)
NM_000702.4(ATP1A2):c.1041G>A (p.Lys347=)
NM_000702.4(ATP1A2):c.1051C>G (p.Arg351Gly)
NM_000702.4(ATP1A2):c.1052G>A (p.Arg351Gln) rs754655141
NM_000702.4(ATP1A2):c.1053G>T (p.Arg351=)
NM_000702.4(ATP1A2):c.1057A>T (p.Asn353Tyr) rs1454080069
NM_000702.4(ATP1A2):c.1061G>A (p.Cys354Tyr)
NM_000702.4(ATP1A2):c.1062C>G (p.Cys354Trp) rs1651663976
NM_000702.4(ATP1A2):c.106G>A (p.Glu36Lys) rs1651377160
NM_000702.4(ATP1A2):c.1071G>A (p.Lys357=)
NM_000702.4(ATP1A2):c.1074C>T (p.Asn358=) rs1558005822
NM_000702.4(ATP1A2):c.1082C>T (p.Ala361Val) rs2101989129
NM_000702.4(ATP1A2):c.1092G>C (p.Thr364=) rs55741021
NM_000702.4(ATP1A2):c.1092G>T (p.Thr364=)
NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp) rs1057518514
NM_000702.4(ATP1A2):c.1097G>T (p.Gly366Val) rs1057518514
NM_000702.4(ATP1A2):c.1098C>T (p.Gly366=)
NM_000702.4(ATP1A2):c.10G>A (p.Gly4Arg)
NM_000702.4(ATP1A2):c.1100C>G (p.Ser367Cys) rs2101989154
NM_000702.4(ATP1A2):c.1103C>T (p.Thr368Met) rs746383817
NM_000702.4(ATP1A2):c.1104G>A (p.Thr368=) rs138766432
NM_000702.4(ATP1A2):c.1104G>C (p.Thr368=) rs138766432
NM_000702.4(ATP1A2):c.1105T>C (p.Ser369Pro)
NM_000702.4(ATP1A2):c.1116C>T (p.Cys372=)
NM_000702.4(ATP1A2):c.1118C>T (p.Ser373Leu) rs1651665360
NM_000702.4(ATP1A2):c.111G>A (p.Val37=) rs886045414
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg) rs121918620
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000702.4(ATP1A2):c.1130G>T (p.Gly377Val)
NM_000702.4(ATP1A2):c.1132A>G (p.Thr378Ala)
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.1137C>T (p.Leu379=)
NM_000702.4(ATP1A2):c.1140C>G (p.Thr380=)
NM_000702.4(ATP1A2):c.1147C>T (p.Arg383Cys)
NM_000702.4(ATP1A2):c.1148G>T (p.Arg383Leu)
NM_000702.4(ATP1A2):c.1149C>T (p.Arg383=)
NM_000702.4(ATP1A2):c.1150A>G (p.Met384Val) rs1570988778
NM_000702.4(ATP1A2):c.1155C>A (p.Thr385=) rs759207376
NM_000702.4(ATP1A2):c.1159G>A (p.Ala387Thr)
NM_000702.4(ATP1A2):c.1160C>T (p.Ala387Val) rs1651667301
NM_000702.4(ATP1A2):c.1163A>G (p.His388Arg)
NM_000702.4(ATP1A2):c.1165A>G (p.Met389Val) rs1651667422
NM_000702.4(ATP1A2):c.1167G>A (p.Met389Ile)
NM_000702.4(ATP1A2):c.117+19C>T
NM_000702.4(ATP1A2):c.1171T>C (p.Phe391Leu) rs1651667900
NM_000702.4(ATP1A2):c.1174G>A (p.Asp392Asn)
NM_000702.4(ATP1A2):c.118-18T>C
NM_000702.4(ATP1A2):c.118-19C>T
NM_000702.4(ATP1A2):c.1182A>G (p.Gln394=) rs1553244893
NM_000702.4(ATP1A2):c.1188T>C (p.His396=) rs1570988795
NM_000702.4(ATP1A2):c.1190A>C (p.Glu397Ala)
NM_000702.4(ATP1A2):c.1197C>T (p.Asp399=)
NM_000702.4(ATP1A2):c.12+10C>T
NM_000702.4(ATP1A2):c.12+11C>T
NM_000702.4(ATP1A2):c.12+12T>A
NM_000702.4(ATP1A2):c.12+12T>G
NM_000702.4(ATP1A2):c.12+16del
NM_000702.4(ATP1A2):c.12+1G>A
NM_000702.4(ATP1A2):c.12+24_12+45dup
NM_000702.4(ATP1A2):c.12+3G>A rs2101980042
NM_000702.4(ATP1A2):c.12+6T>C rs888389853
NM_000702.4(ATP1A2):c.12+9C>T
NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=) rs547954866
NM_000702.4(ATP1A2):c.1216+13T>C
NM_000702.4(ATP1A2):c.1216+14C>G rs200681048
NM_000702.4(ATP1A2):c.1216+14C>T
NM_000702.4(ATP1A2):c.1216+18A>G
NM_000702.4(ATP1A2):c.1216+20G>A rs753264381
NM_000702.4(ATP1A2):c.1216+3G>A rs2101989261
NM_000702.4(ATP1A2):c.1216+5T>C rs780155641
NM_000702.4(ATP1A2):c.1216+5T>G rs780155641
NM_000702.4(ATP1A2):c.1216+7G>T rs962782746
NM_000702.4(ATP1A2):c.1216+8G>T
NM_000702.4(ATP1A2):c.1217-12_1217-5del rs755994047
NM_000702.4(ATP1A2):c.1217-15dup
NM_000702.4(ATP1A2):c.1217-16C>T
NM_000702.4(ATP1A2):c.1217-18C>A
NM_000702.4(ATP1A2):c.1217-4C>T rs1359000049
NM_000702.4(ATP1A2):c.1217-8C>T rs1651676100
NM_000702.4(ATP1A2):c.1217-9T>C
NM_000702.4(ATP1A2):c.1218G>T (p.Gly406=)
NM_000702.4(ATP1A2):c.1224T>C (p.Thr408=) rs2101989424
NM_000702.4(ATP1A2):c.1228G>A (p.Asp410Asn) rs2101989431
NM_000702.4(ATP1A2):c.1232A>G (p.Lys411Arg)
NM_000702.4(ATP1A2):c.1234C>T (p.Arg412Ter)
NM_000702.4(ATP1A2):c.1235G>A (p.Arg412Gln) rs765021457
NM_000702.4(ATP1A2):c.1241C>T (p.Pro414Leu) rs767672945
NM_000702.4(ATP1A2):c.1244C>G (p.Thr415Arg)
NM_000702.4(ATP1A2):c.1249A>G (p.Thr417Ala) rs1486565697
NM_000702.4(ATP1A2):c.1251G>A (p.Thr417=) rs142309356
NM_000702.4(ATP1A2):c.1252G>T (p.Ala418Ser)
NM_000702.4(ATP1A2):c.1253C>T (p.Ala418Val)
NM_000702.4(ATP1A2):c.1255C>A (p.Leu419Met)
NM_000702.4(ATP1A2):c.1255C>T (p.Leu419=) rs2101989458
NM_000702.4(ATP1A2):c.1257G>A (p.Leu419=)
NM_000702.4(ATP1A2):c.1266T>A (p.Ile422=)
NM_000702.4(ATP1A2):c.1296G>A (p.Lys432=)
NM_000702.4(ATP1A2):c.1297G>A (p.Ala433Thr)
NM_000702.4(ATP1A2):c.129G>C (p.Lys43Asn) rs61734527
NM_000702.4(ATP1A2):c.13-11T>G
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.13-15_13-12del rs1184627670
NM_000702.4(ATP1A2):c.13-19C>T
NM_000702.4(ATP1A2):c.13-20G>C
NM_000702.4(ATP1A2):c.13-4T>A
NM_000702.4(ATP1A2):c.13-4T>G rs1258528903
NM_000702.4(ATP1A2):c.13-5C>T
NM_000702.4(ATP1A2):c.13-8T>A
NM_000702.4(ATP1A2):c.1305G>A (p.Gln435=) rs1243724562
NM_000702.4(ATP1A2):c.1308_1310del (p.Glu436_Asn437delinsAsp)
NM_000702.4(ATP1A2):c.1310A>G (p.Asn437Ser) rs1651682704
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met) rs768088341
NM_000702.4(ATP1A2):c.1323T>C (p.Ser441=)
NM_000702.4(ATP1A2):c.1326+14AC[5]
NM_000702.4(ATP1A2):c.1326+15C>A
NM_000702.4(ATP1A2):c.1326+15C>T
NM_000702.4(ATP1A2):c.1326+19C>G
NM_000702.4(ATP1A2):c.1326+6G>T
NM_000702.4(ATP1A2):c.1326+8G>T
NM_000702.4(ATP1A2):c.1326+8del rs763762298
NM_000702.4(ATP1A2):c.1326G>A (p.Lys442=)
NM_000702.4(ATP1A2):c.1327-11T>A
NM_000702.4(ATP1A2):c.1327-14G>A
NM_000702.4(ATP1A2):c.1327-14G>T
NM_000702.4(ATP1A2):c.1327-19T>C
NM_000702.4(ATP1A2):c.1327-6T>C rs1338142228
NM_000702.4(ATP1A2):c.1327C>G (p.Arg443Gly) rs1274611333
NM_000702.4(ATP1A2):c.1334C>T (p.Thr445Ile) rs2101989727
NM_000702.4(ATP1A2):c.1335A>G (p.Thr445=) rs1570989335
NM_000702.4(ATP1A2):c.133T>A (p.Ser45Thr) rs1651384906
NM_000702.4(ATP1A2):c.1355C>T (p.Ser452Leu)
NM_000702.4(ATP1A2):c.1357G>C (p.Ala453Pro)
NM_000702.4(ATP1A2):c.1363C>A (p.Leu455Ile) rs1490998665
NM_000702.4(ATP1A2):c.1365C>G (p.Leu455=)
NM_000702.4(ATP1A2):c.1369T>C (p.Cys457Arg) rs758127903
NM_000702.4(ATP1A2):c.1384T>A (p.Cys462Ser)
NM_000702.4(ATP1A2):c.1388G>T (p.Gly463Val)
NM_000702.4(ATP1A2):c.13G>T (p.Ala5Ser)
NM_000702.4(ATP1A2):c.1402A>G (p.Met468Val) rs2101989788
NM_000702.4(ATP1A2):c.1405A>T (p.Arg469Ter)
NM_000702.4(ATP1A2):c.1406G>A (p.Arg469Lys)
NM_000702.4(ATP1A2):c.1409A>G (p.Asp470Gly)
NM_000702.4(ATP1A2):c.1410C>T (p.Asp470=)
NM_000702.4(ATP1A2):c.1412G>C (p.Arg471Thr)
NM_000702.4(ATP1A2):c.1417C>A (p.Pro473Thr) rs1045596574
NM_000702.4(ATP1A2):c.1418C>T (p.Pro473Leu) rs1000639881
NM_000702.4(ATP1A2):c.1428A>C (p.Ala476=)
NM_000702.4(ATP1A2):c.1432A>G (p.Ile478Val) rs1553245013
NM_000702.4(ATP1A2):c.1438T>G (p.Phe480Val)
NM_000702.4(ATP1A2):c.1446_1448del (p.Thr483del)
NM_000702.4(ATP1A2):c.1453A>T (p.Lys485Ter) rs2101989829
NM_000702.4(ATP1A2):c.1459C>G (p.Gln487Glu)
NM_000702.4(ATP1A2):c.1461+10G>A
NM_000702.4(ATP1A2):c.1461+11G>T
NM_000702.4(ATP1A2):c.1461+15C>T
NM_000702.4(ATP1A2):c.1461+18_1461+19delinsTA
NM_000702.4(ATP1A2):c.1461+19G>A
NM_000702.4(ATP1A2):c.1461+5G>T rs199906945
NM_000702.4(ATP1A2):c.1461+9G>C rs1004576502
NM_000702.4(ATP1A2):c.1462-17A>G rs1570989962
NM_000702.4(ATP1A2):c.1462-3C>T
NM_000702.4(ATP1A2):c.1467T>G (p.Ser489=)
NM_000702.4(ATP1A2):c.1471C>A (p.His491Asn) rs747333323
NM_000702.4(ATP1A2):c.1477C>T (p.Arg493Ter) rs534696343
NM_000702.4(ATP1A2):c.1481A>G (p.Glu494Gly) rs2101990357
NM_000702.4(ATP1A2):c.1483G>A (p.Asp495Asn)
NM_000702.4(ATP1A2):c.1485C>T (p.Asp495=)
NM_000702.4(ATP1A2):c.1490C>A (p.Pro497His)
NM_000702.4(ATP1A2):c.1490C>G (p.Pro497Arg) rs1651723270
NM_000702.4(ATP1A2):c.1499A>T (p.His500Leu)
NM_000702.4(ATP1A2):c.149G>T (p.Gly50Val) rs1570983300
NM_000702.4(ATP1A2):c.1507G>C (p.Val503Leu) rs2101990393
NM_000702.4(ATP1A2):c.1511T>C (p.Met504Thr)
NM_000702.4(ATP1A2):c.1514A>C (p.Lys505Thr) rs1570990059
NM_000702.4(ATP1A2):c.1519G>T (p.Ala507Ser) rs1651724587
NM_000702.4(ATP1A2):c.152G>T (p.Arg51Leu) rs144106169
NM_000702.4(ATP1A2):c.1541G>T (p.Arg514Leu) rs748654627
NM_000702.4(ATP1A2):c.1549A>G (p.Thr517Ala)
NM_000702.4(ATP1A2):c.1553T>A (p.Ile518Asn)
NM_000702.4(ATP1A2):c.1554C>G (p.Ile518Met) rs771003528
NM_000702.4(ATP1A2):c.1562A>G (p.Gln521Arg)
NM_000702.4(ATP1A2):c.1570G>T (p.Glu524Ter)
NM_000702.4(ATP1A2):c.1575C>A (p.Ile525=)
NM_000702.4(ATP1A2):c.1581C>T (p.Leu527=)
NM_000702.4(ATP1A2):c.158A>G (p.Tyr53Cys)
NM_000702.4(ATP1A2):c.1597G>C (p.Asp533His)
NM_000702.4(ATP1A2):c.160C>A (p.Gln54Lys)
NM_000702.4(ATP1A2):c.1619T>G (p.Met540Arg) rs868632991
NM_000702.4(ATP1A2):c.1631G>T (p.Gly544Val) rs1651730758
NM_000702.4(ATP1A2):c.1634T>C (p.Leu545Pro)
NM_000702.4(ATP1A2):c.1638G>A (p.Gly546=)
NM_000702.4(ATP1A2):c.1639del (p.Glu547fs) rs1651730901
NM_000702.4(ATP1A2):c.1642C>T (p.Arg548Cys) rs1651731153
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.1651+7G>A rs1381652652
NM_000702.4(ATP1A2):c.1652-17C>T rs2101990662
NM_000702.4(ATP1A2):c.1652-19C>T rs1344017943
NM_000702.4(ATP1A2):c.1652-1G>T
NM_000702.4(ATP1A2):c.1652-3T>C rs1553245152
NM_000702.4(ATP1A2):c.1652-6C>A
NM_000702.4(ATP1A2):c.1652-6C>G rs768543626
NM_000702.4(ATP1A2):c.1652-6del
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1652-7C>G rs200102433
NM_000702.4(ATP1A2):c.1652-8C>A rs370023134
NM_000702.4(ATP1A2):c.1652-8C>G rs370023134
NM_000702.4(ATP1A2):c.1652-9C>A rs1651736137
NM_000702.4(ATP1A2):c.1652G>C (p.Gly551Ala)
NM_000702.4(ATP1A2):c.168C>T (p.Asp56=)
NM_000702.4(ATP1A2):c.1705G>A (p.Asp569Asn)
NM_000702.4(ATP1A2):c.170T>C (p.Leu57Pro)
NM_000702.4(ATP1A2):c.1719G>A (p.Leu573=)
NM_000702.4(ATP1A2):c.1725T>C (p.Phe575=)
NM_000702.4(ATP1A2):c.1726C>A (p.Pro576Thr)
NM_000702.4(ATP1A2):c.172T>A (p.Ser58Thr)
NM_000702.4(ATP1A2):c.1730C>A (p.Thr577Lys) rs747886840
NM_000702.4(ATP1A2):c.1730C>T (p.Thr577Met) rs747886840
NM_000702.4(ATP1A2):c.1734G>C (p.Glu578Asp) rs2101990757
NM_000702.4(ATP1A2):c.1738C>T (p.Leu580Phe)
NM_000702.4(ATP1A2):c.1741T>C (p.Cys581Arg)
NM_000702.4(ATP1A2):c.1743C>A (p.Cys581Ter) rs1570990484
NM_000702.4(ATP1A2):c.1748T>G (p.Val583Gly)
NM_000702.4(ATP1A2):c.174C>T (p.Ser58=)
NM_000702.4(ATP1A2):c.1752G>T (p.Gly584=)
NM_000702.4(ATP1A2):c.1755C>T (p.Leu585=) rs770315204
NM_000702.4(ATP1A2):c.1758G>A (p.Met586Ile)
NM_000702.4(ATP1A2):c.1769A>G (p.Asp590Gly)
NM_000702.4(ATP1A2):c.1769A>T (p.Asp590Val) rs1570990507
NM_000702.4(ATP1A2):c.176A>C (p.Lys59Thr) rs1367410532
NM_000702.4(ATP1A2):c.177+14C>T
NM_000702.4(ATP1A2):c.177+17C>T
NM_000702.4(ATP1A2):c.177+2T>G
NM_000702.4(ATP1A2):c.1774C>T (p.Pro592Ser)
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.1778G>A (p.Arg593Gln) rs1553245178
NM_000702.4(ATP1A2):c.1778G>T (p.Arg593Leu) rs1553245178
NM_000702.4(ATP1A2):c.1779G>A (p.Arg593=) rs1553245179
NM_000702.4(ATP1A2):c.178-14C>T
NM_000702.4(ATP1A2):c.178-16C>G
NM_000702.4(ATP1A2):c.178-16C>T
NM_000702.4(ATP1A2):c.178-7C>A
NM_000702.4(ATP1A2):c.1784C>T (p.Ala595Val) rs1211758102
NM_000702.4(ATP1A2):c.1785T>C (p.Ala595=)
NM_000702.4(ATP1A2):c.1786G>C (p.Val596Leu)
NM_000702.4(ATP1A2):c.179G>A (p.Gly60Asp)
NM_000702.4(ATP1A2):c.1807T>G (p.Cys603Gly)
NM_000702.4(ATP1A2):c.1808G>A (p.Cys603Tyr)
NM_000702.4(ATP1A2):c.1810C>T (p.Arg604Ter) rs1469902667
NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr) rs1414742926
NM_000702.4(ATP1A2):c.1824C>A (p.Ile608=) rs2101990844
NM_000702.4(ATP1A2):c.1827+10del rs1651741885
NM_000702.4(ATP1A2):c.1827+13C>T rs1651741944
NM_000702.4(ATP1A2):c.1827+17C>T
NM_000702.4(ATP1A2):c.1827+19C>T
NM_000702.4(ATP1A2):c.1827+3A>G rs377238291
NM_000702.4(ATP1A2):c.1827+8C>A
NM_000702.4(ATP1A2):c.1827+8C>T rs1416413433
NM_000702.4(ATP1A2):c.1828-12C>T
NM_000702.4(ATP1A2):c.1843G>A (p.Gly615Arg) rs770053423
NM_000702.4(ATP1A2):c.1858A>G (p.Thr620Ala)
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg) rs1057521886
NM_000702.4(ATP1A2):c.185C>G (p.Thr62Ser)
NM_000702.4(ATP1A2):c.1873G>T (p.Ala625Ser)
NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met) rs1553245659
NM_000702.4(ATP1A2):c.1885G>A (p.Gly629Ser) rs920199278
NM_000702.4(ATP1A2):c.188del (p.Asn63fs) rs1651475047
NM_000702.4(ATP1A2):c.1908G>A (p.Glu636=)
NM_000702.4(ATP1A2):c.191A>G (p.Gln64Arg)
NM_000702.4(ATP1A2):c.1925C>T (p.Ala642Val)
NM_000702.4(ATP1A2):c.1928C>G (p.Ala643Gly) rs763782107
NM_000702.4(ATP1A2):c.1930C>A (p.Arg644=) rs150784486
NM_000702.4(ATP1A2):c.1930C>T (p.Arg644Trp) rs150784486
NM_000702.4(ATP1A2):c.1939A>G (p.Ile647Val)
NM_000702.4(ATP1A2):c.193C>A (p.Arg65=)
NM_000702.4(ATP1A2):c.1940T>C (p.Ile647Thr)
NM_000702.4(ATP1A2):c.194G>A (p.Arg65Gln)
NM_000702.4(ATP1A2):c.1959C>T (p.Asn653=) rs768301089
NM_000702.4(ATP1A2):c.1962C>G (p.Pro654=) rs1057523083
NM_000702.4(ATP1A2):c.1963A>G (p.Arg655Gly)
NM_000702.4(ATP1A2):c.1964+12del
NM_000702.4(ATP1A2):c.1964+16G>A
NM_000702.4(ATP1A2):c.1964+18A>G
NM_000702.4(ATP1A2):c.1965-11C>T
NM_000702.4(ATP1A2):c.1965-12C>T
NM_000702.4(ATP1A2):c.1965-14C>A
NM_000702.4(ATP1A2):c.1965-15C>T
NM_000702.4(ATP1A2):c.1965-2A>G
NM_000702.4(ATP1A2):c.1965-36_1965-12del rs762067275
NM_000702.4(ATP1A2):c.1965-6C>A
NM_000702.4(ATP1A2):c.1966G>A (p.Glu656Lys)
NM_000702.4(ATP1A2):c.1971C>T (p.Ala657=)
NM_000702.4(ATP1A2):c.1975G>T (p.Ala659Ser) rs1322861091
NM_000702.4(ATP1A2):c.1984G>A (p.Val662Met)
NM_000702.4(ATP1A2):c.19C>G (p.Arg7Gly) rs761260548
NM_000702.4(ATP1A2):c.2001G>A (p.Leu667=) rs2101994739
NM_000702.4(ATP1A2):c.2008A>G (p.Met670Val) rs1184210055
NM_000702.4(ATP1A2):c.2012C>T (p.Thr671Ile)
NM_000702.4(ATP1A2):c.2014T>A (p.Ser672Thr) rs1651897433
NM_000702.4(ATP1A2):c.2025C>G (p.Leu675=)
NM_000702.4(ATP1A2):c.2026G>A (p.Asp676Asn) rs868105479
NM_000702.4(ATP1A2):c.202G>A (p.Asp68Asn)
NM_000702.4(ATP1A2):c.202G>T (p.Asp68Tyr) rs1651476108
NM_000702.4(ATP1A2):c.2056G>A (p.Val686Ile) rs780606939
NM_000702.4(ATP1A2):c.205G>T (p.Val69Phe)
NM_000702.4(ATP1A2):c.2069C>G (p.Thr690Arg)
NM_000702.4(ATP1A2):c.2074C>A (p.Pro692Thr)
NM_000702.4(ATP1A2):c.2080C>A (p.Gln694Lys)
NM_000702.4(ATP1A2):c.20G>C (p.Arg7Pro) rs764755889
NM_000702.4(ATP1A2):c.2101G>A (p.Gly701Arg)
NM_000702.4(ATP1A2):c.2104T>A (p.Cys702Ser) rs1651899578
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) rs1558008455
NM_000702.4(ATP1A2):c.2107C>G (p.Gln703Glu) rs1651900087
NM_000702.4(ATP1A2):c.2108A>C (p.Gln703Pro)
NM_000702.4(ATP1A2):c.2111G>A (p.Arg704Lys) rs2101994868
NM_000702.4(ATP1A2):c.2115+24_2115+49dup
NM_000702.4(ATP1A2):c.2115+6C>G
NM_000702.4(ATP1A2):c.2116-12T>C
NM_000702.4(ATP1A2):c.2116-13G>C
NM_000702.4(ATP1A2):c.2116-14C>G
NM_000702.4(ATP1A2):c.2116-14_2116-13delinsAA
NM_000702.4(ATP1A2):c.2116-16G>T
NM_000702.4(ATP1A2):c.2116-17G>T
NM_000702.4(ATP1A2):c.2116-18T>C
NM_000702.4(ATP1A2):c.2116-19G>A
NM_000702.4(ATP1A2):c.2116-4C>T
NM_000702.4(ATP1A2):c.2117G>A (p.Gly706Glu) rs757033679
NM_000702.4(ATP1A2):c.211G>A (p.Ala71Thr) rs1558003394
NM_000702.4(ATP1A2):c.2123T>A (p.Ile708Asn) rs1341609289
NM_000702.4(ATP1A2):c.2126_2127del (p.Val709fs)
NM_000702.4(ATP1A2):c.2128G>T (p.Ala710Ser) rs1553245764
NM_000702.4(ATP1A2):c.2131G>A (p.Val711Met) rs1282248061
NM_000702.4(ATP1A2):c.2139T>C (p.Gly713=) rs1570994216
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.4(ATP1A2):c.2157C>T (p.Ser719=) rs2101995092
NM_000702.4(ATP1A2):c.215G>A (p.Arg72Gln) rs779812635
NM_000702.4(ATP1A2):c.215G>C (p.Arg72Pro) rs779812635
NM_000702.4(ATP1A2):c.2160T>C (p.Pro720=) rs2101995101
NM_000702.4(ATP1A2):c.2169G>A (p.Lys723=)
NM_000702.4(ATP1A2):c.2175T>G (p.Ala725=)
NM_000702.4(ATP1A2):c.2178C>T (p.Asp726=) rs2101995121
NM_000702.4(ATP1A2):c.2197A>G (p.Ile733Val)
NM_000702.4(ATP1A2):c.21T>A (p.Arg7=) rs2101983772
NM_000702.4(ATP1A2):c.2203G>A (p.Gly735Ser)
NM_000702.4(ATP1A2):c.2210A>G (p.Asp737Gly)
NM_000702.4(ATP1A2):c.2230G>A (p.Asp744Asn) rs1131691922
NM_000702.4(ATP1A2):c.2241G>A (p.Leu747=)
NM_000702.4(ATP1A2):c.2251A>G (p.Asn751Asp) rs1651910730
NM_000702.4(ATP1A2):c.2263A>G (p.Ile755Val) rs1038057853
NM_000702.4(ATP1A2):c.2265C>T (p.Ile755=) rs1558008583
NM_000702.4(ATP1A2):c.2275G>T (p.Val759Leu) rs1553245779
NM_000702.4(ATP1A2):c.2276T>C (p.Val759Ala) rs2101995205
NM_000702.4(ATP1A2):c.2277G>A (p.Val759=)
NM_000702.4(ATP1A2):c.2281G>A (p.Glu761Lys)
NM_000702.4(ATP1A2):c.2283G>A (p.Glu761=) rs760732436
NM_000702.4(ATP1A2):c.2284+15T>C
NM_000702.4(ATP1A2):c.2284+17G>C
NM_000702.4(ATP1A2):c.2284+1G>A
NM_000702.4(ATP1A2):c.2284+9G>C rs1312408848
NM_000702.4(ATP1A2):c.2285-20C>T rs1558008686
NM_000702.4(ATP1A2):c.2285-3C>T rs1372396453
NM_000702.4(ATP1A2):c.2285G>C (p.Gly762Ala) rs1461860929
NM_000702.4(ATP1A2):c.2286C>A (p.Gly762=)
NM_000702.4(ATP1A2):c.2287C>T (p.Arg763Cys) rs2101995435
NM_000702.4(ATP1A2):c.2288G>A (p.Arg763His) rs1403515889
NM_000702.4(ATP1A2):c.228C>T (p.Asn76=)
NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro) rs28933398
NM_000702.4(ATP1A2):c.2295C>A (p.Ile765=)
NM_000702.4(ATP1A2):c.2298T>G (p.Phe766Leu) rs2101995452
NM_000702.4(ATP1A2):c.2308A>G (p.Lys770Glu) rs1651921216
NM_000702.4(ATP1A2):c.2316C>T (p.Ser772=)
NM_000702.4(ATP1A2):c.231C>T (p.Ala77=)
NM_000702.4(ATP1A2):c.2322C>G (p.Ala774=)
NM_000702.4(ATP1A2):c.2327C>T (p.Thr776Ile)
NM_000702.4(ATP1A2):c.2334C>T (p.Thr778=) rs2101995476
NM_000702.4(ATP1A2):c.2335A>C (p.Ser779Arg)
NM_000702.4(ATP1A2):c.2337C>A (p.Ser779Arg) rs2101995485
NM_000702.4(ATP1A2):c.2339A>G (p.Asn780Ser) rs1651921528
NM_000702.4(ATP1A2):c.2346C>G (p.Pro782=) rs754391034
NM_000702.4(ATP1A2):c.2357C>T (p.Pro786Leu) rs1209724722
NM_000702.4(ATP1A2):c.2373C>T (p.Ile791=)
NM_000702.4(ATP1A2):c.2378C>T (p.Ala793Val)
NM_000702.4(ATP1A2):c.2385C>A (p.Ile795=)
NM_000702.4(ATP1A2):c.2387C>T (p.Pro796Leu) rs1651922528
NM_000702.4(ATP1A2):c.2388C>T (p.Pro796=)
NM_000702.4(ATP1A2):c.2403T>C (p.Thr801=)
NM_000702.4(ATP1A2):c.2408C>T (p.Thr803Ile)
NM_000702.4(ATP1A2):c.2422G>C (p.Asp808His) rs1651923218
NM_000702.4(ATP1A2):c.2424C>A (p.Asp808Glu)
NM_000702.4(ATP1A2):c.2424C>G (p.Asp808Glu) rs1570994712
NM_000702.4(ATP1A2):c.2426T>G (p.Leu809Arg) rs1553245805
NM_000702.4(ATP1A2):c.2431A>G (p.Thr811Ala)
NM_000702.4(ATP1A2):c.2432C>G (p.Thr811Arg)
NM_000702.4(ATP1A2):c.2432_2433delinsAC (p.Thr811Asn) rs1651923573
NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His) rs1558008759
NM_000702.4(ATP1A2):c.2439+11G>A
NM_000702.4(ATP1A2):c.2439+14G>A
NM_000702.4(ATP1A2):c.2439+3G>A
NM_000702.4(ATP1A2):c.2439+5G>A rs1651923862
NM_000702.4(ATP1A2):c.2439+6C>A
NM_000702.4(ATP1A2):c.2440-27_2440-16del
NM_000702.4(ATP1A2):c.2440-6A>C rs1553245840
NM_000702.4(ATP1A2):c.2440-7C>G
NM_000702.4(ATP1A2):c.2449A>G (p.Ile817Val)
NM_000702.4(ATP1A2):c.2463T>C (p.Tyr821=) rs932326539
NM_000702.4(ATP1A2):c.2469A>C (p.Ala823=) rs2101995829
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.2471dup (p.Ala824_Glu825insTer) rs1651944837
NM_000702.4(ATP1A2):c.2473G>A (p.Glu825Lys) rs2101995840
NM_000702.4(ATP1A2):c.2484C>A (p.Ile828=)
NM_000702.4(ATP1A2):c.2485A>G (p.Met829Val) rs2101995847
NM_000702.4(ATP1A2):c.2491C>T (p.Arg831Trp) rs1570995030
NM_000702.4(ATP1A2):c.2497C>T (p.Pro833Ser)
NM_000702.4(ATP1A2):c.2500C>G (p.Arg834Gly) rs755310507
NM_000702.4(ATP1A2):c.2500C>T (p.Arg834Ter) rs755310507
NM_000702.4(ATP1A2):c.2501G>A (p.Arg834Gln) rs2101995864
NM_000702.4(ATP1A2):c.2501G>T (p.Arg834Leu)
NM_000702.4(ATP1A2):c.2502A>C (p.Arg834=)
NM_000702.4(ATP1A2):c.250A>G (p.Thr84Ala) rs1651478160
NM_000702.4(ATP1A2):c.2513C>T (p.Thr838Met) rs1282862455
NM_000702.4(ATP1A2):c.2515G>T (p.Asp839Tyr)
NM_000702.4(ATP1A2):c.2515del (p.Asp839fs)
NM_000702.4(ATP1A2):c.2521C>G (p.Leu841Val)
NM_000702.4(ATP1A2):c.2529T>C (p.Asn843=) rs1330790224
NM_000702.4(ATP1A2):c.2546T>C (p.Met849Thr)
NM_000702.4(ATP1A2):c.2553C>T (p.Tyr851=)
NM_000702.4(ATP1A2):c.2556_2563+1dup rs2101995893
NM_000702.4(ATP1A2):c.2563+3G>C
NM_000702.4(ATP1A2):c.2563+6C>T
NM_000702.4(ATP1A2):c.2563+7C>A rs2101995932
NM_000702.4(ATP1A2):c.2563+9A>G rs2101995933
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.2564-10C>T rs2101996106
NM_000702.4(ATP1A2):c.2564-12C>T rs1367972222
NM_000702.4(ATP1A2):c.2564-16G>A
NM_000702.4(ATP1A2):c.2564-5C>T rs1570995340
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu) rs149144720
NM_000702.4(ATP1A2):c.2566A>T (p.Met856Leu)
NM_000702.4(ATP1A2):c.2582G>T (p.Gly861Val)
NM_000702.4(ATP1A2):c.2590T>C (p.Phe864Leu)
NM_000702.4(ATP1A2):c.2599T>C (p.Phe867Leu) rs2101996133
NM_000702.4(ATP1A2):c.2610G>A (p.Leu870=)
NM_000702.4(ATP1A2):c.2611G>A (p.Ala871Thr)
NM_000702.4(ATP1A2):c.2619C>G (p.Asn873Lys)
NM_000702.4(ATP1A2):c.2619C>T (p.Asn873=)
NM_000702.4(ATP1A2):c.2622T>C (p.Gly874=) rs886043454
NM_000702.4(ATP1A2):c.2626C>T (p.Leu876=)
NM_000702.4(ATP1A2):c.2635C>T (p.Arg879Trp)
NM_000702.4(ATP1A2):c.2640A>G (p.Leu880=)
NM_000702.4(ATP1A2):c.2644G>A (p.Gly882Arg)
NM_000702.4(ATP1A2):c.264C>A (p.Val88=)
NM_000702.4(ATP1A2):c.2650C>T (p.Arg884Cys) rs765117244
NM_000702.4(ATP1A2):c.2651G>A (p.Arg884His)
NM_000702.4(ATP1A2):c.2655C>T (p.Leu885=)
NM_000702.4(ATP1A2):c.2656G>T (p.Asp886Tyr)
NM_000702.4(ATP1A2):c.2658C>T (p.Asp886=) rs2101996198
NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg) rs28933399
NM_000702.4(ATP1A2):c.2668C>G (p.Arg890Gly)
NM_000702.4(ATP1A2):c.2668C>T (p.Arg890Trp) rs1651962434
NM_000702.4(ATP1A2):c.2669G>A (p.Arg890Gln) rs868485498
NM_000702.4(ATP1A2):c.2670G>C (p.Arg890=)
NM_000702.4(ATP1A2):c.2682T>A (p.Asp894Glu)
NM_000702.4(ATP1A2):c.2691C>A (p.Asp897Glu)
NM_000702.4(ATP1A2):c.2703G>T (p.Gln901His)
NM_000702.4(ATP1A2):c.2708G>A (p.Trp903Ter)
NM_000702.4(ATP1A2):c.2709+16T>A
NM_000702.4(ATP1A2):c.2709+5G>C
NM_000702.4(ATP1A2):c.2709G>C (p.Trp903Cys)
NM_000702.4(ATP1A2):c.270C>T (p.Phe90=)
NM_000702.4(ATP1A2):c.2710-12C>T rs2101996457
NM_000702.4(ATP1A2):c.2710-15_2710-14del
NM_000702.4(ATP1A2):c.2710-16C>T
NM_000702.4(ATP1A2):c.2710A>C (p.Thr904Pro)
NM_000702.4(ATP1A2):c.2714A>G (p.Tyr905Cys)
NM_000702.4(ATP1A2):c.2716G>C (p.Glu906Gln) rs1651972255
NM_000702.4(ATP1A2):c.2722C>T (p.Arg908Trp) rs758772895
NM_000702.4(ATP1A2):c.2742G>T (p.Thr914=) rs201215311
NM_000702.4(ATP1A2):c.2750C>T (p.Thr917Met)
NM_000702.4(ATP1A2):c.2752G>A (p.Ala918Thr) rs776809763
NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met) rs373276446
NM_000702.4(ATP1A2):c.2774T>C (p.Val925Ala) rs1651973840
NM_000702.4(ATP1A2):c.280C>A (p.Leu94Ile) rs950102855
NM_000702.4(ATP1A2):c.280C>T (p.Leu94Phe) rs950102855
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000702.4(ATP1A2):c.2811C>G (p.Arg937=)
NM_000702.4(ATP1A2):c.2813G>A (p.Arg938His)
NM_000702.4(ATP1A2):c.2833G>A (p.Gly945Ser)
NM_000702.4(ATP1A2):c.2840+10del
NM_000702.4(ATP1A2):c.2840+12C>A
NM_000702.4(ATP1A2):c.2840+14C>T
NM_000702.4(ATP1A2):c.2840+3G>A
NM_000702.4(ATP1A2):c.2840+7G>T
NM_000702.4(ATP1A2):c.2841-18C>G
NM_000702.4(ATP1A2):c.2841-20C>T
NM_000702.4(ATP1A2):c.2841-4T>C rs2101998519
NM_000702.4(ATP1A2):c.2841-8C>T rs1553246128
NM_000702.4(ATP1A2):c.2841G>A (p.Lys947=)
NM_000702.4(ATP1A2):c.2842A>C (p.Asn948His)
NM_000702.4(ATP1A2):c.2844C>T (p.Asn948=)
NM_000702.4(ATP1A2):c.2859T>C (p.Phe953=)
NM_000702.4(ATP1A2):c.2859T>G (p.Phe953Leu) rs1652069624
NM_000702.4(ATP1A2):c.2863C>G (p.Leu955Val)
NM_000702.4(ATP1A2):c.2867T>C (p.Leu956Pro)
NM_000702.4(ATP1A2):c.286G>A (p.Gly96Arg)
NM_000702.4(ATP1A2):c.2870A>C (p.Glu957Ala) rs1652069991
NM_000702.4(ATP1A2):c.2876C>G (p.Thr959Arg)
NM_000702.4(ATP1A2):c.2879C>T (p.Ala960Val)
NM_000702.4(ATP1A2):c.287G>A (p.Gly96Glu)
NM_000702.4(ATP1A2):c.2880G>T (p.Ala960=) rs762969049
NM_000702.4(ATP1A2):c.2889C>T (p.Ala963=)
NM_000702.4(ATP1A2):c.2898T>C (p.Ser966=)
NM_000702.4(ATP1A2):c.2904C>T (p.Cys968=)
NM_000702.4(ATP1A2):c.290G>A (p.Gly97Glu)
NM_000702.4(ATP1A2):c.2911_2914dup (p.Gly972fs)
NM_000702.4(ATP1A2):c.2916T>C (p.Gly972=)
NM_000702.4(ATP1A2):c.2921C>A (p.Ala974Asp)
NM_000702.4(ATP1A2):c.2923C>T (p.Leu975Phe) rs1652072049
NM_000702.4(ATP1A2):c.2925C>G (p.Leu975=) rs954480042
NM_000702.4(ATP1A2):c.2926C>A (p.Arg976Ser) rs371742379
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.2937G>A (p.Pro979=) rs201879002
NM_000702.4(ATP1A2):c.2940C>T (p.Leu980=)
NM_000702.4(ATP1A2):c.2942+11C>G rs2101998633
NM_000702.4(ATP1A2):c.2942+12_2942+15del
NM_000702.4(ATP1A2):c.2942+15C>G
NM_000702.4(ATP1A2):c.2942+16G>C
NM_000702.4(ATP1A2):c.2942+19C>A rs187187416
NM_000702.4(ATP1A2):c.2942+5G>T
NM_000702.4(ATP1A2):c.2942+9C>T rs1652072843
NM_000702.4(ATP1A2):c.2943-11A>G
NM_000702.4(ATP1A2):c.2943-11A>T
NM_000702.4(ATP1A2):c.2943-18C>G rs2101998767
NM_000702.4(ATP1A2):c.2943-3C>G
NM_000702.4(ATP1A2):c.294C>T (p.Phe98=)
NM_000702.4(ATP1A2):c.2970C>T (p.Pro990=)
NM_000702.4(ATP1A2):c.2974A>C (p.Ser992Arg)
NM_000702.4(ATP1A2):c.2977CTC[1] (p.Leu994del)
NM_000702.4(ATP1A2):c.2982C>T (p.Leu994=)
NM_000702.4(ATP1A2):c.2983A>T (p.Ile995Phe) rs2101998794
NM_000702.4(ATP1A2):c.2983dup (p.Ile995fs)
NM_000702.4(ATP1A2):c.298A>G (p.Ile100Val)
NM_000702.4(ATP1A2):c.2T>C (p.Met1Thr) rs1651158379
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) rs757310141
NM_000702.4(ATP1A2):c.3010C>T (p.Leu1004Phe)
NM_000702.4(ATP1A2):c.3012C>T (p.Leu1004=)
NM_000702.4(ATP1A2):c.3017T>C (p.Leu1006Pro)
NM_000702.4(ATP1A2):c.3019C>A (p.Arg1007=)
NM_000702.4(ATP1A2):c.3019C>T (p.Arg1007Trp)
NM_000702.4(ATP1A2):c.3020G>A (p.Arg1007Gln)
NM_000702.4(ATP1A2):c.3022C>T (p.Arg1008Trp)
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) rs1570998206
NM_000702.4(ATP1A2):c.3028C>G (p.Pro1010Ala)
NM_000702.4(ATP1A2):c.3034+13A>G
NM_000702.4(ATP1A2):c.3034+16T>C rs564623438
NM_000702.4(ATP1A2):c.3034+20_3034+23del
NM_000702.4(ATP1A2):c.3034+23dup
NM_000702.4(ATP1A2):c.3035-9C>T
NM_000702.4(ATP1A2):c.3035G>T (p.Gly1012Val)
NM_000702.4(ATP1A2):c.3043G>A (p.Glu1015Lys)
NM_000702.4(ATP1A2):c.3051G>A (p.Glu1017=)
NM_000702.4(ATP1A2):c.3058T>G (p.Tyr1020Asp)
NM_000702.4(ATP1A2):c.305T>C (p.Leu102Pro)
NM_000702.4(ATP1A2):c.309G>C (p.Trp103Cys)
NM_000702.4(ATP1A2):c.319A>G (p.Ile107Val) rs2101985456
NM_000702.4(ATP1A2):c.332T>C (p.Leu111Pro)
NM_000702.4(ATP1A2):c.335C>A (p.Ala112Asp) rs878854140
NM_000702.4(ATP1A2):c.347A>G (p.Gln116Arg)
NM_000702.4(ATP1A2):c.349G>A (p.Ala117Thr) rs1651481117
NM_000702.4(ATP1A2):c.350C>T (p.Ala117Val)
NM_000702.4(ATP1A2):c.368C>A (p.Pro123Gln)
NM_000702.4(ATP1A2):c.36C>G (p.Ala12=)
NM_000702.4(ATP1A2):c.37G>A (p.Ala13Thr) rs753074130
NM_000702.4(ATP1A2):c.381+13G>T rs772082739
NM_000702.4(ATP1A2):c.381+19C>A
NM_000702.4(ATP1A2):c.381+19C>G
NM_000702.4(ATP1A2):c.381+1G>A rs2101985522
NM_000702.4(ATP1A2):c.381+5G>A
NM_000702.4(ATP1A2):c.382-12del
NM_000702.4(ATP1A2):c.382-17C>T
NM_000702.4(ATP1A2):c.382-20A>G
NM_000702.4(ATP1A2):c.382C>T (p.Leu128=)
NM_000702.4(ATP1A2):c.384A>G (p.Leu128=) rs201542400
NM_000702.4(ATP1A2):c.38C>T (p.Ala13Val)
NM_000702.4(ATP1A2):c.396G>A (p.Val132=)
NM_000702.4(ATP1A2):c.396G>C (p.Val132=) rs762950705
NM_000702.4(ATP1A2):c.398T>C (p.Val133Ala) rs1651502435
NM_000702.4(ATP1A2):c.3G>A (p.Met1Ile)
NM_000702.4(ATP1A2):c.407C>T (p.Ala136Val) rs1651502620
NM_000702.4(ATP1A2):c.412G>T (p.Val138Phe)
NM_000702.4(ATP1A2):c.434C>A (p.Ser145Tyr)
NM_000702.4(ATP1A2):c.447G>A (p.Glu149=)
NM_000702.4(ATP1A2):c.462G>A (p.Lys154=) rs2101985910
NM_000702.4(ATP1A2):c.468G>A (p.Met156Ile) rs2101985912
NM_000702.4(ATP1A2):c.46G>A (p.Ala16Thr)
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=) rs553035942
NM_000702.4(ATP1A2):c.477C>G (p.Phe159Leu) rs2101985919
NM_000702.4(ATP1A2):c.481A>G (p.Asn161Asp) rs796052279
NM_000702.4(ATP1A2):c.485T>C (p.Met162Thr)
NM_000702.4(ATP1A2):c.495+10C>G rs1226066700
NM_000702.4(ATP1A2):c.495+10dup
NM_000702.4(ATP1A2):c.495+11A>C
NM_000702.4(ATP1A2):c.495+14G>A
NM_000702.4(ATP1A2):c.495+17G>A rs2101985941
NM_000702.4(ATP1A2):c.495+17_495+28dup
NM_000702.4(ATP1A2):c.495+18G>C
NM_000702.4(ATP1A2):c.495+1G>A
NM_000702.4(ATP1A2):c.495+2T>C
NM_000702.4(ATP1A2):c.495+7T>C rs377435696
NM_000702.4(ATP1A2):c.495+7T>G
NM_000702.4(ATP1A2):c.496-11G>T rs1287709502
NM_000702.4(ATP1A2):c.496-14G>A
NM_000702.4(ATP1A2):c.496-14G>T rs529912799
NM_000702.4(ATP1A2):c.496-15T>C rs1057522605
NM_000702.4(ATP1A2):c.496-1G>A rs773117459
NM_000702.4(ATP1A2):c.496-5C>G rs1651512608
NM_000702.4(ATP1A2):c.496C>A (p.Gln166Lys)
NM_000702.4(ATP1A2):c.507G>A (p.Val169=)
NM_000702.4(ATP1A2):c.511C>T (p.Arg171Trp)
NM_000702.4(ATP1A2):c.512G>A (p.Arg171Gln) rs1553244392
NM_000702.4(ATP1A2):c.520G>A (p.Glu174Lys)
NM_000702.4(ATP1A2):c.524del (p.Lys175fs)
NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile) rs867416764
NM_000702.4(ATP1A2):c.534C>A (p.Ile178=)
NM_000702.4(ATP1A2):c.544G>A (p.Glu182Lys)
NM_000702.4(ATP1A2):c.547G>T (p.Val183Leu)
NM_000702.4(ATP1A2):c.553G>T (p.Val185Leu)
NM_000702.4(ATP1A2):c.554T>C (p.Val185Ala)
NM_000702.4(ATP1A2):c.567G>A (p.Val189=) rs1651515024
NM_000702.4(ATP1A2):c.568G>A (p.Glu190Lys)
NM_000702.4(ATP1A2):c.573G>A (p.Val191=)
NM_000702.4(ATP1A2):c.57G>A (p.Gly19=)
NM_000702.4(ATP1A2):c.580G>T (p.Gly194Ter)
NM_000702.4(ATP1A2):c.582A>T (p.Gly194=)
NM_000702.4(ATP1A2):c.58G>A (p.Gly20Ser) rs1558002462
NM_000702.4(ATP1A2):c.592C>A (p.Pro198Thr)
NM_000702.4(ATP1A2):c.600C>T (p.Asp200=) rs1060504129
NM_000702.4(ATP1A2):c.604C>T (p.Arg202Trp) rs1219118149
NM_000702.4(ATP1A2):c.605G>A (p.Arg202Gln)
NM_000702.4(ATP1A2):c.607A>C (p.Ile203Leu) rs1259959010
NM_000702.4(ATP1A2):c.617C>A (p.Ser206Tyr)
NM_000702.4(ATP1A2):c.619C>T (p.His207Tyr) rs1057523810
NM_000702.4(ATP1A2):c.621T>A (p.His207Gln) rs1048175233
NM_000702.4(ATP1A2):c.623G>A (p.Gly208Asp)
NM_000702.4(ATP1A2):c.630+6G>A
NM_000702.4(ATP1A2):c.631-10_631-4del
NM_000702.4(ATP1A2):c.631-14T>C rs371081594
NM_000702.4(ATP1A2):c.631-14T>G
NM_000702.4(ATP1A2):c.631-16A>G rs571618030
NM_000702.4(ATP1A2):c.631-16A>T rs571618030
NM_000702.4(ATP1A2):c.631-17C>A rs368195019
NM_000702.4(ATP1A2):c.631-17C>T rs368195019
NM_000702.4(ATP1A2):c.631-18G>A
NM_000702.4(ATP1A2):c.631-9C>T rs1194833342
NM_000702.4(ATP1A2):c.633G>A (p.Val211=) rs1054187251
NM_000702.4(ATP1A2):c.641C>T (p.Ser214Leu)
NM_000702.4(ATP1A2):c.642A>T (p.Ser214=)
NM_000702.4(ATP1A2):c.650C>T (p.Thr217Ile)
NM_000702.4(ATP1A2):c.654A>C (p.Gly218=)
NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=) rs564452950
NM_000702.4(ATP1A2):c.660G>C (p.Ser220=)
NM_000702.4(ATP1A2):c.664C>T (p.Pro222Ser) rs1570986069
NM_000702.4(ATP1A2):c.666C>G (p.Pro222=)
NM_000702.4(ATP1A2):c.671C>A (p.Thr224Asn)
NM_000702.4(ATP1A2):c.672C>A (p.Thr224=) rs1309171467
NM_000702.4(ATP1A2):c.672C>G (p.Thr224=)
NM_000702.4(ATP1A2):c.674G>A (p.Arg225His) rs778741638
NM_000702.4(ATP1A2):c.67A>G (p.Lys23Glu) rs1651376133
NM_000702.4(ATP1A2):c.682G>A (p.Glu228Lys)
NM_000702.4(ATP1A2):c.685T>G (p.Phe229Val) rs1651546645
NM_000702.4(ATP1A2):c.694G>C (p.Glu232Gln) rs775220854
NM_000702.4(ATP1A2):c.699C>T (p.Asn233=) rs1258932331
NM_000702.4(ATP1A2):c.712C>T (p.Arg238Cys) rs1558004341
NM_000702.4(ATP1A2):c.719T>A (p.Ile240Asn) rs1651548209
NM_000702.4(ATP1A2):c.720_721del (p.Ile240fs) rs2101986777
NM_000702.4(ATP1A2):c.728T>A (p.Phe243Tyr) rs1651548339
NM_000702.4(ATP1A2):c.736_739del (p.Asn246fs) rs1651548761
NM_000702.4(ATP1A2):c.742G>T (p.Val248Phe) rs1651549443
NM_000702.4(ATP1A2):c.744T>C (p.Val248=)
NM_000702.4(ATP1A2):c.748+16G>T
NM_000702.4(ATP1A2):c.748+18C>T rs1311948495
NM_000702.4(ATP1A2):c.748+1G>C
NM_000702.4(ATP1A2):c.748+20C>G
NM_000702.4(ATP1A2):c.748+21dup
NM_000702.4(ATP1A2):c.748+3G>T
NM_000702.4(ATP1A2):c.749-13del
NM_000702.4(ATP1A2):c.749-15C>G
NM_000702.4(ATP1A2):c.749-16C>T
NM_000702.4(ATP1A2):c.749-20G>T rs2101988320
NM_000702.4(ATP1A2):c.749-4G>A
NM_000702.4(ATP1A2):c.755C>T (p.Ala252Val)
NM_000702.4(ATP1A2):c.75G>A (p.Gln25=) rs2101983843
NM_000702.4(ATP1A2):c.762C>T (p.Gly254=)
NM_000702.4(ATP1A2):c.784C>T (p.Arg262Trp)
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met) rs777400961
NM_000702.4(ATP1A2):c.794T>C (p.Met265Thr) rs1651625639
NM_000702.4(ATP1A2):c.798C>G (p.Gly266=)
NM_000702.4(ATP1A2):c.800G>A (p.Arg267His)
NM_000702.4(ATP1A2):c.810T>G (p.Thr270=)
NM_000702.4(ATP1A2):c.813C>G (p.Leu271=) rs747740289
NM_000702.4(ATP1A2):c.834G>A (p.Gly278=)
NM_000702.4(ATP1A2):c.843C>A (p.Pro281=) rs1476316736
NM_000702.4(ATP1A2):c.848C>A (p.Ala283Glu)
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000702.4(ATP1A2):c.855dup (p.Ile286fs) rs2101988410
NM_000702.4(ATP1A2):c.869_872del (p.Ile290fs)
NM_000702.4(ATP1A2):c.876G>A (p.Leu292=)
NM_000702.4(ATP1A2):c.881C>T (p.Thr294Ile)
NM_000702.4(ATP1A2):c.885G>C (p.Gly295=)
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_000702.4(ATP1A2):c.891T>C (p.Ala297=)
NM_000702.4(ATP1A2):c.892_909dup (p.Val298_Ser303dup) rs2101988440
NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg) rs121918612
NM_000702.4(ATP1A2):c.902G>A (p.Gly301Glu)
NM_000702.4(ATP1A2):c.906C>G (p.Val302=)
NM_000702.4(ATP1A2):c.909C>T (p.Ser303=) rs1422290691
NM_000702.4(ATP1A2):c.910TTC[1] (p.Phe305del)
NM_000702.4(ATP1A2):c.91G>A (p.Asp31Asn)
NM_000702.4(ATP1A2):c.921C>A (p.Leu307=)
NM_000702.4(ATP1A2):c.921C>G (p.Leu307=)
NM_000702.4(ATP1A2):c.930C>T (p.Ile310=) rs778670666
NM_000702.4(ATP1A2):c.953C>A (p.Ala318Glu) rs2101988461
NM_000702.4(ATP1A2):c.956T>A (p.Val319Asp)
NM_000702.4(ATP1A2):c.963C>T (p.Phe321=) rs1651629750
NM_000702.4(ATP1A2):c.96G>A (p.Glu32=)
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser) rs1570987954
NM_000702.4(ATP1A2):c.972C>T (p.Gly324=)
NM_000702.4(ATP1A2):c.973A>T (p.Ile325Phe)
NM_000702.4(ATP1A2):c.988G>A (p.Val330Met) rs1236883845
NM_000702.4(ATP1A2):c.991C>G (p.Pro331Ala)
NM_000702.4(ATP1A2):c.994G>A (p.Glu332Lys) rs2101988492
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) rs121908213
NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu) rs121908218
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001165963.4(SCN1A):c.*1872del rs878898132
NM_001165963.4(SCN1A):c.*672_*675del rs886055038
NM_001165963.4(SCN1A):c.*878dup rs886055037
NM_001165963.4(SCN1A):c.1171-10_1171-9del rs372840031
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2177-8dup rs747086735
NM_001165963.4(SCN1A):c.787C>G (p.Leu263Val) rs2105890052

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