ClinVar Miner

List of variants reported as uncertain significance for childhood absence epilepsy

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1049
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.*1697A>G rs75337618 0.01133
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_001127644.2(GABRA1):c.*2035G>A rs73317010 0.00933
NM_001127644.2(GABRA1):c.-16+8C>A rs138671319 0.00544
NM_001127644.2(GABRA1):c.*1381T>C rs187522588 0.00463
NM_001127644.2(GABRA1):c.*2098C>T rs147837301 0.00428
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001127644.2(GABRA1):c.*1821T>G rs10059108 0.00427
NM_000806.5(GABRA1):c.-449G>C rs190043578 0.00355
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_198904.4(GABRG2):c.*348A>G rs192973258 0.00328
NM_001127644.2(GABRA1):c.*2523A>C rs567624810 0.00224
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_001127644.2(GABRA1):c.*988A>G rs182930988 0.00140
NM_001127644.2(GABRA1):c.-162G>A rs547029877 0.00121
NM_000811.3(GABRA6):c.255G>C (p.Gln85His) rs115069685 0.00088
NM_001127644.2(GABRA1):c.*1752G>T rs41303356 0.00066
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.255+12C>T rs144727170 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_198904.4(GABRG2):c.-104T>G rs886060380 0.00066
NM_000806.5(GABRA1):c.-405T>C rs181962869 0.00059
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_001127644.2(GABRA1):c.*630T>C rs578077816 0.00046
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His) rs201009269 0.00045
NM_001127644.2(GABRA1):c.*401G>A rs541504060 0.00041
NM_001127644.2(GABRA1):c.*433G>C rs140183311 0.00038
NM_198904.4(GABRG2):c.*1427C>T rs375013278 0.00037
NM_198904.4(GABRG2):c.*296G>T rs1025917717 0.00035
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr) rs776370351 0.00033
NM_198904.4(GABRG2):c.*247T>C rs371389067 0.00032
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val) rs538959856 0.00029
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys) rs199914911 0.00026
NM_198904.4(GABRG2):c.*422C>T rs752382943 0.00026
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter) rs761719764 0.00023
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_001127644.2(GABRA1):c.*1781T>C rs952357734 0.00022
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro) rs59103647 0.00021
NM_198904.4(GABRG2):c.*374A>G rs573126853 0.00021
NM_001127644.2(GABRA1):c.*1601T>G rs886060369 0.00019
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417 0.00019
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn) rs552269381 0.00019
NM_198904.4(GABRG2):c.*384C>T rs773854777 0.00019
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
NM_198904.4(GABRG2):c.107+12C>T rs369466385 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys) rs375325893 0.00016
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn) rs200709671 0.00016
NM_021098.3(CACNA1H):c.5468G>A (p.Arg1823His) rs370384766 0.00016
NM_198904.4(GABRG2):c.*1468A>G rs372041761 0.00016
NM_001127644.2(GABRA1):c.*398A>C rs374845401 0.00015
NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met) rs370975488 0.00015
NM_021098.3(CACNA1H):c.1119+6C>T rs372159580 0.00014
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln) rs1180154075 0.00014
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_000816.3(GABRG2):c.-282C>T rs772816792 0.00013
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val) rs777217625 0.00013
NM_001127644.2(GABRA1):c.*1324T>C rs866632459 0.00012
NM_001127644.2(GABRA1):c.*1426A>G rs952390349 0.00012
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) rs80337021 0.00012
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys) rs376607278 0.00012
NM_001127644.2(GABRA1):c.*1984T>C rs1015675139 0.00011
NM_001127644.2(GABRA1):c.-252T>C rs766490931 0.00011
NM_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg) rs369898856 0.00011
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys) rs56930579 0.00011
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His) rs374847612 0.00011
NM_021098.3(CACNA1H):c.4018G>A (p.Val1340Met) rs747265858 0.00011
NM_001127644.2(GABRA1):c.-220T>C rs186477194 0.00010
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp) rs377061296 0.00010
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His) rs548407874 0.00010
NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser) rs370675810 0.00010
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His) rs374363044 0.00009
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn) rs932161061 0.00009
NM_021098.3(CACNA1H):c.1942C>T (p.Pro648Ser) rs373669637 0.00009
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys) rs756154211 0.00009
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu) rs775405041 0.00009
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln) rs949170696 0.00009
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931 0.00009
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro) rs61742096 0.00009
NM_021098.3(CACNA1H):c.6143C>T (p.Pro2048Leu) rs535814707 0.00009
NM_001127644.2(GABRA1):c.*2009G>C rs139565984 0.00008
NM_001127644.2(GABRA1):c.*2279G>A rs575186628 0.00008
NM_001127644.2(GABRA1):c.*456C>T rs945683052 0.00008
NM_021098.3(CACNA1H):c.2390G>A (p.Arg797His) rs200791167 0.00008
NM_021098.3(CACNA1H):c.3472G>A (p.Gly1158Ser) rs556556052 0.00008
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser) rs780831084 0.00008
NM_021098.3(CACNA1H):c.5040-3C>T rs769178587 0.00008
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_021098.3(CACNA1H):c.5976C>T (p.Gly1992=) rs367929249 0.00008
NM_001127644.2(GABRA1):c.1070T>C (p.Val357Ala) rs749707253 0.00007
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp) rs539324457 0.00007
NM_021098.3(CACNA1H):c.3507C>T (p.Gly1169=) rs200522574 0.00007
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp) rs576035669 0.00007
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile) rs575909585 0.00007
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile) rs370883583 0.00007
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys) rs369185359 0.00007
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val) rs763675499 0.00007
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe) rs201577113 0.00007
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_000814.6(GABRB3):c.835+5G>A rs374357218 0.00006
NM_001127644.2(GABRA1):c.*213C>T rs886060362 0.00006
NM_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg) rs776058661 0.00006
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728 0.00006
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro) rs377549389 0.00006
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His) rs538758039 0.00006
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys) rs753993842 0.00006
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val) rs769568324 0.00006
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln) rs759668583 0.00006
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr) rs374297889 0.00006
NM_021098.3(CACNA1H):c.4735C>T (p.Arg1579Trp) rs373867411 0.00006
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val) rs375017750 0.00006
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile) rs374558503 0.00006
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys) rs755405205 0.00006
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu) rs749054531 0.00006
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) rs554063452 0.00006
NM_021098.3(CACNA1H):c.6388C>T (p.Arg2130Trp) rs771195242 0.00006
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys) rs367584657 0.00006
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys) rs746626989 0.00006
NM_001127644.2(GABRA1):c.*1512G>A rs886060368 0.00005
NM_001127644.2(GABRA1):c.*413G>A rs886060365 0.00005
NM_001127644.2(GABRA1):c.*771C>T rs886060366 0.00005
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474 0.00005
NM_021098.3(CACNA1H):c.1441C>T (p.Arg481Cys) rs577233623 0.00005
NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His) rs994418105 0.00005
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661 0.00005
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg) rs763407611 0.00005
NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu) rs765181693 0.00005
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg) rs752799249 0.00005
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile) rs759669950 0.00005
NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys) rs377103385 0.00005
NM_021098.3(CACNA1H):c.6532G>A (p.Ala2178Thr) rs771909122 0.00005
NM_198904.4(GABRG2):c.*239C>G rs889255383 0.00005
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_000806.5(GABRA1):c.-439A>G rs886060357 0.00004
NM_001127644.2(GABRA1):c.*438A>C rs1041886081 0.00004
NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg) rs376031361 0.00004
NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys) rs371658961 0.00004
NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp) rs1459266876 0.00004
NM_021098.3(CACNA1H):c.1315C>T (p.Arg439Cys) rs756550215 0.00004
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His) rs1325999341 0.00004
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys) rs1040565692 0.00004
NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys) rs1367396955 0.00004
NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs) rs759709148 0.00004
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys) rs371324992 0.00004
NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser) rs367610523 0.00004
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly) rs559573879 0.00004
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys) rs375165169 0.00004
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn) rs745354512 0.00004
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu) rs753159318 0.00004
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg) rs759262489 0.00004
NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln) rs1002596641 0.00004
NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln) rs758674093 0.00004
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp) rs372472186 0.00004
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr) rs931243903 0.00004
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=) rs771972820 0.00004
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val) rs777667628 0.00004
NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His) rs774455553 0.00004
NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His) rs1458781875 0.00004
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser) rs946594196 0.00004
NM_021098.3(CACNA1H):c.5117C>T (p.Ala1706Val) rs371121613 0.00004
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His) rs747789914 0.00004
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg) rs372601783 0.00004
NM_021098.3(CACNA1H):c.5611C>T (p.Arg1871Trp) rs866836108 0.00004
NM_021098.3(CACNA1H):c.5950G>A (p.Ala1984Thr) rs761696834 0.00004
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln) rs772785163 0.00004
NM_021098.3(CACNA1H):c.637G>A (p.Val213Met) rs772154386 0.00004
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys) rs768826048 0.00004
NM_021098.3(CACNA1H):c.6940G>A (p.Val2314Ile) rs370867825 0.00004
NM_021098.3(CACNA1H):c.721T>G (p.Phe241Val) rs56900494 0.00004
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg) rs369329819 0.00004
NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser) rs766354453 0.00004
NM_198904.4(GABRG2):c.*1407T>A rs748908802 0.00004
NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp) rs374512652 0.00004
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937 0.00003
NM_000814.6(GABRB3):c.544+3G>T rs377463653 0.00003
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846 0.00003
NM_001127644.2(GABRA1):c.*1685C>T rs1442411830 0.00003
NM_001127644.2(GABRA1):c.*325T>A rs76047934 0.00003
NM_001127644.2(GABRA1):c.*993C>T rs1013417216 0.00003
NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe) rs747927213 0.00003
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser) rs760258010 0.00003
NM_021098.3(CACNA1H):c.1912G>A (p.Gly638Ser) rs747036748 0.00003
NM_021098.3(CACNA1H):c.2003-6C>T rs1435574238 0.00003
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met) rs574809183 0.00003
NM_021098.3(CACNA1H):c.2632G>A (p.Gly878Ser) rs547294711 0.00003
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln) rs748252386 0.00003
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met) rs536557648 0.00003
NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val) rs774136809 0.00003
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met) rs371500703 0.00003
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg) rs748550409 0.00003
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln) rs751148760 0.00003
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln) rs775183925 0.00003
NM_021098.3(CACNA1H):c.3662T>C (p.Val1221Ala) rs774661170 0.00003
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile) rs150821225 0.00003
NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys) rs753494538 0.00003
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val) rs774773999 0.00003
NM_021098.3(CACNA1H):c.4678A>G (p.Lys1560Glu) rs1371741882 0.00003
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln) rs560884609 0.00003
NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His) rs199669141 0.00003
NM_021098.3(CACNA1H):c.5688G>A (p.Ala1896=) rs58835716 0.00003
NM_021098.3(CACNA1H):c.5893G>A (p.Val1965Ile) rs748947682 0.00003
NM_021098.3(CACNA1H):c.6178C>T (p.Arg2060Cys) rs777952986 0.00003
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) rs369917102 0.00003
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007 0.00003
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu) rs765757800 0.00003
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu) rs780870706 0.00003
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys) rs375586314 0.00003
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln) rs775972605 0.00003
NM_021098.3(CACNA1H):c.6799G>A (p.Ala2267Thr) rs1231529131 0.00003
NM_198904.4(GABRG2):c.*1320G>A rs886060385 0.00003
NM_198904.4(GABRG2):c.-217C>G rs748771306 0.00003
NM_000806.5(GABRA1):c.-455G>A rs531705924 0.00002
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu) rs1224993536 0.00002
NM_000814.6(GABRB3):c.172+4A>G rs752221563 0.00002
NM_000814.6(GABRB3):c.80+4G>C rs542737772 0.00002
NM_000816.3(GABRG2):c.-250C>T rs886060376 0.00002
NM_001127644.2(GABRA1):c.*1061T>C rs374002978 0.00002
NM_001127644.2(GABRA1):c.*1425T>C rs919551233 0.00002
NM_001127644.2(GABRA1):c.*1609A>C rs1231156247 0.00002
NM_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu) rs751571034 0.00002
NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser) rs1229633395 0.00002
NM_001127644.2(GABRA1):c.477-14A>G rs757378039 0.00002
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=) rs75423500 0.00002
NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile) rs748551891 0.00002
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val) rs757893642 0.00002
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser) rs377664706 0.00002
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln) rs774313309 0.00002
NM_021098.3(CACNA1H):c.2502C>T (p.Ser834=) rs1348188346 0.00002
NM_021098.3(CACNA1H):c.2656T>G (p.Phe886Val) rs1482408749 0.00002
NM_021098.3(CACNA1H):c.2933T>C (p.Val978Ala) rs776860363 0.00002
NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn) rs977157885 0.00002
NM_021098.3(CACNA1H):c.313G>A (p.Val105Met) rs1437402680 0.00002
NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His) rs369475886 0.00002
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr) rs375742212 0.00002
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272 0.00002
NM_021098.3(CACNA1H):c.3845+7C>T rs371494399 0.00002
NM_021098.3(CACNA1H):c.3850C>T (p.Arg1284Cys) rs541678072 0.00002
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile) rs761199543 0.00002
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys) rs776740325 0.00002
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val) rs371030255 0.00002
NM_021098.3(CACNA1H):c.41C>T (p.Pro14Leu) rs1263557227 0.00002
NM_021098.3(CACNA1H):c.4549G>A (p.Val1517Met) rs778002223 0.00002
NM_021098.3(CACNA1H):c.4715G>A (p.Arg1572Gln) rs541249511 0.00002
NM_021098.3(CACNA1H):c.4795T>C (p.Tyr1599His) rs760412982 0.00002
NM_021098.3(CACNA1H):c.4819C>T (p.Arg1607Cys) rs1315448028 0.00002
NM_021098.3(CACNA1H):c.5103A>G (p.Ile1701Met) rs779872782 0.00002
NM_021098.3(CACNA1H):c.5260C>T (p.Leu1754Phe) rs369220355 0.00002
NM_021098.3(CACNA1H):c.5864C>T (p.Thr1955Ile) rs766939282 0.00002
NM_021098.3(CACNA1H):c.6257C>G (p.Pro2086Arg) rs563954985 0.00002
NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=) rs372118811 0.00002
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His) rs752385455 0.00002
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu) rs754398374 0.00002
NM_021098.3(CACNA1H):c.6624G>A (p.Ala2208=) rs770681199 0.00002
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys) rs761083620 0.00002
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp) rs770202267 0.00002
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu) rs778943919 0.00002
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser) rs760918600 0.00002
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu) rs372848579 0.00002
NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met) rs774565789 0.00002
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln) rs377665479 0.00002
NM_198904.4(GABRG2):c.*117A>G rs187224842 0.00002
NM_198904.4(GABRG2):c.24C>A (p.Ser8Arg) rs183259247 0.00002
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val) rs772800839 0.00002
NM_198904.4(GABRG2):c.691G>A (p.Asp231Asn) rs773065895 0.00002
NM_198904.4(GABRG2):c.759G>A (p.Lys253=) rs202124575 0.00002
NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp) rs771568810 0.00001
NM_000814.6(GABRB3):c.1127A>G (p.Asn376Ser) rs756866953 0.00001
NM_000814.6(GABRB3):c.1139A>C (p.Glu380Ala) rs745675693 0.00001
NM_000814.6(GABRB3):c.1153A>G (p.Ile385Val) rs1352939866 0.00001
NM_000814.6(GABRB3):c.1226G>A (p.Arg409Gln) rs766795597 0.00001
NM_000814.6(GABRB3):c.1286G>A (p.Arg429Gln) rs777882335 0.00001
NM_000814.6(GABRB3):c.1327A>T (p.Thr443Ser) rs1218316231 0.00001
NM_000814.6(GABRB3):c.1330G>A (p.Asp444Asn) rs766672883 0.00001
NM_000814.6(GABRB3):c.136A>C (p.Lys46Gln) rs1057520112 0.00001
NM_000814.6(GABRB3):c.217G>C (p.Asp73His) rs768859258 0.00001
NM_000814.6(GABRB3):c.307C>T (p.Pro103Ser) rs267604145 0.00001
NM_000814.6(GABRB3):c.329A>G (p.Asn110Ser) rs751329477 0.00001
NM_000814.6(GABRB3):c.34A>G (p.Ile12Val) rs1451852360 0.00001
NM_000814.6(GABRB3):c.434C>G (p.Pro145Arg) rs1325124119 0.00001
NM_000814.6(GABRB3):c.598G>A (p.Val200Ile) rs372359936 0.00001
NM_000814.6(GABRB3):c.637A>G (p.Ile213Val) rs749931408 0.00001
NM_000814.6(GABRB3):c.640G>A (p.Val214Met) rs761554616 0.00001
NM_000814.6(GABRB3):c.649C>T (p.Arg217Cys) rs1301259280 0.00001
NM_000814.6(GABRB3):c.682_682+3dup rs1254941219 0.00001
NM_000814.6(GABRB3):c.713G>A (p.Arg238Gln) rs773257229 0.00001
NM_000814.6(GABRB3):c.73G>T (p.Ala25Ser) rs1448726231 0.00001
NM_000814.6(GABRB3):c.847G>A (p.Val283Met) rs1595440460 0.00001
NM_000816.3(GABRG2):c.-334C>T rs886060374 0.00001
NM_000816.3(GABRG2):c.-355A>C rs1241101902 0.00001
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys) rs767384862 0.00001
NM_001127644.2(GABRA1):c.*1359T>C rs1164629079 0.00001
NM_001127644.2(GABRA1):c.*1686G>A rs1561590547 0.00001
NM_001127644.2(GABRA1):c.*1971T>C rs886060372 0.00001
NM_001127644.2(GABRA1):c.*2334C>T rs886060373 0.00001
NM_001127644.2(GABRA1):c.*838G>A rs940074128 0.00001
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) rs1424508480 0.00001
NM_001127644.2(GABRA1):c.1127C>A (p.Thr376Asn) rs761617651 0.00001
NM_001127644.2(GABRA1):c.1147G>A (p.Asp383Asn) rs375377575 0.00001
NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=) rs541335259 0.00001
NM_001127644.2(GABRA1):c.1228A>G (p.Lys410Glu) rs1424659316 0.00001
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) rs1057518405 0.00001
NM_001127644.2(GABRA1):c.1357A>G (p.Thr453Ala) rs747892371 0.00001
NM_001127644.2(GABRA1):c.1358C>T (p.Thr453Ile) rs1755420544 0.00001
NM_001127644.2(GABRA1):c.188A>C (p.Glu63Ala) rs1429109541 0.00001
NM_001127644.2(GABRA1):c.385C>T (p.His129Tyr) rs146134200 0.00001
NM_001127644.2(GABRA1):c.476+6G>A rs764873956 0.00001
NM_001127644.2(GABRA1):c.602A>G (p.Glu201Gly) rs765292293 0.00001
NM_001127644.2(GABRA1):c.611G>A (p.Arg204His) rs777320447 0.00001
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479 0.00001
NM_001127644.2(GABRA1):c.677A>G (p.Asp226Gly) rs748783999 0.00001
NM_001127644.2(GABRA1):c.691C>G (p.Gln231Glu) rs1173993011 0.00001
NM_001127644.2(GABRA1):c.856+11A>G rs564871157 0.00001
NM_001127644.2(GABRA1):c.857-5T>C rs543710675 0.00001
NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys) rs769743354 0.00001
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys) rs746748953 0.00001
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His) rs1230959391 0.00001
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr) rs902030420 0.00001
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr) rs544916201 0.00001
NM_021098.3(CACNA1H):c.2005C>G (p.Leu669Val) rs747987613 0.00001
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met) rs779476529 0.00001
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln) rs757946905 0.00001
NM_021098.3(CACNA1H):c.2306C>T (p.Pro769Leu) rs540638287 0.00001
NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met) rs1473122688 0.00001
NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=) rs777762276 0.00001
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val) rs1216897674 0.00001
NM_021098.3(CACNA1H):c.2668C>T (p.Arg890Cys) rs1446439397 0.00001
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp) rs779011503 0.00001
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) rs1057520721 0.00001
NM_021098.3(CACNA1H):c.2730G>C (p.Lys910Asn) rs1330732054 0.00001
NM_021098.3(CACNA1H):c.2743G>A (p.Val915Met) rs762600701 0.00001
NM_021098.3(CACNA1H):c.2789+16C>T rs59952053 0.00001
NM_021098.3(CACNA1H):c.2825G>C (p.Ser942Thr) rs1012165881 0.00001
NM_021098.3(CACNA1H):c.2899G>A (p.Val967Met) rs1489760070 0.00001
NM_021098.3(CACNA1H):c.3043G>A (p.Val1015Met) rs376957651 0.00001
NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=) rs575176246 0.00001
NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys) rs970648879 0.00001
NM_021098.3(CACNA1H):c.3154+5G>A rs764360814 0.00001
NM_021098.3(CACNA1H):c.3214C>G (p.Leu1072Val) rs1238128692 0.00001
NM_021098.3(CACNA1H):c.3233T>C (p.Met1078Thr) rs373102061 0.00001
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His) rs764071122 0.00001
NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg) rs1431381776 0.00001
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His) rs772040768 0.00001
NM_021098.3(CACNA1H):c.3474C>T (p.Gly1158=) rs1244188050 0.00001
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys) rs766406727 0.00001
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val) rs778186545 0.00001
NM_021098.3(CACNA1H):c.3565C>T (p.Arg1189Cys) rs761063520 0.00001
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp) rs1399681066 0.00001
NM_021098.3(CACNA1H):c.362G>A (p.Arg121Gln) rs201931839 0.00001
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn) rs771215852 0.00001
NM_021098.3(CACNA1H):c.3697G>A (p.Asp1233Asn) rs768716174 0.00001
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp) rs751642419 0.00001
NM_021098.3(CACNA1H):c.4038+6G>A rs112068805 0.00001
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser) rs747715176 0.00001
NM_021098.3(CACNA1H):c.4350+6T>C rs367545564 0.00001
NM_021098.3(CACNA1H):c.4465A>C (p.Asn1489His) rs750626623 0.00001
NM_021098.3(CACNA1H):c.4487C>T (p.Ser1496Leu) rs536269517 0.00001
NM_021098.3(CACNA1H):c.4566+4C>T rs199968897 0.00001
NM_021098.3(CACNA1H):c.4624G>A (p.Val1542Ile) rs745495784 0.00001
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp) rs58725680 0.00001
NM_021098.3(CACNA1H):c.4730G>A (p.Arg1577Gln) rs1343159534 0.00001
NM_021098.3(CACNA1H):c.4738C>T (p.Arg1580Cys) rs777159526 0.00001
NM_021098.3(CACNA1H):c.4789C>T (p.Arg1597Trp) rs747598216 0.00001
NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His) rs761945003 0.00001
NM_021098.3(CACNA1H):c.4849C>T (p.His1617Tyr) rs776165690 0.00001
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile) rs1015123563 0.00001
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr) rs577258290 0.00001
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu) rs745902196 0.00001
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met) rs754276994 0.00001
NM_021098.3(CACNA1H):c.5143C>T (p.Arg1715Cys) rs545768453 0.00001
NM_021098.3(CACNA1H):c.5407C>T (p.Arg1803Cys) rs767277197 0.00001
NM_021098.3(CACNA1H):c.5603A>G (p.Lys1868Arg) rs1970204449 0.00001
NM_021098.3(CACNA1H):c.5687C>T (p.Ala1896Val) rs139080716 0.00001
NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met) rs754166849 0.00001
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr) rs1175867441 0.00001
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu) rs769441475 0.00001
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu) rs921830082 0.00001
NM_021098.3(CACNA1H):c.5917G>A (p.Ala1973Thr) rs1003957584 0.00001
NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His) rs1312406661 0.00001
NM_021098.3(CACNA1H):c.5968A>G (p.Arg1990Gly) rs779602893 0.00001
NM_021098.3(CACNA1H):c.6158G>T (p.Gly2053Val) rs1387716276 0.00001
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu) rs1199118621 0.00001
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys) rs758461760 0.00001
NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr) rs570207081 0.00001
NM_021098.3(CACNA1H):c.6314C>T (p.Thr2105Ile) rs756344458 0.00001
NM_021098.3(CACNA1H):c.6323C>T (p.Ala2108Val) rs778892614 0.00001
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala) rs1025586071 0.00001
NM_021098.3(CACNA1H):c.6389G>A (p.Arg2130Gln) rs776993441 0.00001
NM_021098.3(CACNA1H):c.6589C>T (p.Pro2197Ser) rs746807446 0.00001
NM_021098.3(CACNA1H):c.6601G>A (p.Glu2201Lys) rs1456584884 0.00001
NM_021098.3(CACNA1H):c.6668G>A (p.Cys2223Tyr) rs1264293762 0.00001
NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp) rs764354954 0.00001
NM_021098.3(CACNA1H):c.6709G>C (p.Gly2237Arg) rs899655295 0.00001
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His) rs554435610 0.00001
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile) rs750732485 0.00001
NM_021098.3(CACNA1H):c.6804T>G (p.Phe2268Leu) rs766207096 0.00001
NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln) rs1468102052 0.00001
NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg) rs753077813 0.00001
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val) rs1418372954 0.00001
NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser) rs751311855 0.00001
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys) rs773167797 0.00001
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe) rs1443348691 0.00001
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln) rs749305814 0.00001
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=) rs57740463 0.00001
NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys) rs758039020 0.00001
NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu) rs375274586 0.00001
NM_198904.4(GABRG2):c.*119G>A rs1168516188 0.00001
NM_198904.4(GABRG2):c.*164C>A rs1765522712 0.00001
NM_198904.4(GABRG2):c.*1678A>G rs1196588654 0.00001
NM_198904.4(GABRG2):c.*32T>C rs749257839 0.00001
NM_198904.4(GABRG2):c.*367G>A rs1365753500 0.00001
NM_198904.4(GABRG2):c.*468T>G rs1167572595 0.00001
NM_198904.4(GABRG2):c.-114T>C rs886060379 0.00001
NM_198904.4(GABRG2):c.-196C>T rs1478556756 0.00001
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.1111A>G (p.Lys371Glu) rs1164039510 0.00001
NM_198904.4(GABRG2):c.1156C>T (p.Pro386Ser) rs757311213 0.00001
NM_198904.4(GABRG2):c.1171C>T (p.Arg391Cys) rs768576864 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.1179A>T (p.Arg393Ser) rs770952397 0.00001
NM_198904.4(GABRG2):c.1202A>T (p.Asn401Ile) rs778999273 0.00001
NM_198904.4(GABRG2):c.1208C>T (p.Thr403Ile) rs1765495907 0.00001
NM_198904.4(GABRG2):c.1273T>G (p.Phe425Val) rs780991820 0.00001
NM_198904.4(GABRG2):c.1298G>A (p.Arg433Gln) rs774474550 0.00001
NM_198904.4(GABRG2):c.1334G>A (p.Arg445His) rs587780341 0.00001
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=) rs765904792 0.00001
NM_198904.4(GABRG2):c.173C>A (p.Thr58Asn) rs763218917 0.00001
NM_198904.4(GABRG2):c.191G>A (p.Gly64Asp) rs1408343754 0.00001
NM_198904.4(GABRG2):c.359C>T (p.Thr120Met) rs1194128280 0.00001
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser) rs754884716 0.00001
NM_198904.4(GABRG2):c.37G>A (p.Val13Ile) rs796052502 0.00001
NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr) rs770364855 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
NM_198904.4(GABRG2):c.644G>A (p.Arg215His) rs1561645172 0.00001
NM_198904.4(GABRG2):c.683A>C (p.Glu228Ala) rs903838076 0.00001
NM_198904.4(GABRG2):c.769+10A>G rs765703079 0.00001
NM_198904.4(GABRG2):c.985G>T (p.Val329Phe) rs768061156 0.00001
NC_000005.9:g.(?_160721088)_(161524884_?)dup
NC_000005.9:g.(?_161112996)_(161324428_?)dup
NC_000005.9:g.(?_161495006)_(161580374_?)dup
NC_000005.9:g.(?_161528235)_(161580379_?)dup
NC_000005.9:g.(?_161528241)_(161582545_?)dup
NC_000015.9:g.(?_26792920)_(27018162_?)dup
NC_000015.9:g.(?_26792920)_(27020442_?)dup
NC_000015.9:g.(?_26792940)_(26793301_?)del
NC_000015.9:g.(?_26792940)_(26866701_?)dup
NC_000015.9:g.(?_26792940)_(27018109_?)dup
NC_000015.9:g.(?_26792940)_(27020442_?)dup
NC_000015.9:g.(?_26792940)_(28544682_?)dup
NC_000015.9:g.(?_26866441)_(27018109_?)dup
NC_000015.9:g.(?_27017808)_(27020442_?)dup
NM_000806.5(GABRA1):c.-248+5C>T rs932077882
NM_000806.5(GABRA1):c.-248+8C>A rs886060358
NM_000806.5(GABRA1):c.-399C>T rs1581171032
NM_000806.5(GABRA1):c.-447G>C rs184629690
NM_000806.5(GABRA1):c.-447G>T rs184629690
NM_000806.5(GABRA1):c.-448G>A rs11576000
NM_000806.5(GABRA1):c.-448G>C rs11576000
NM_000811.3(GABRA6):c.371C>G (p.Ser124Cys) rs1554115593
NM_000811.3(GABRA6):c.847A>G (p.Met283Val) rs1554115829
NM_000814.5(GABRB3):c.-114_*4247del
NM_000814.6(GABRB3):c.1023G>T (p.Lys341Asn)
NM_000814.6(GABRB3):c.1030G>A (p.Glu344Lys)
NM_000814.6(GABRB3):c.1039G>C (p.Ala347Pro) rs1365439059
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser) rs763319754
NM_000814.6(GABRB3):c.1070A>C (p.Glu357Ala)
NM_000814.6(GABRB3):c.1080+3A>G rs1889957496
NM_000814.6(GABRB3):c.1081-5A>G
NM_000814.6(GABRB3):c.1081G>A (p.Val361Met) rs1889329356
NM_000814.6(GABRB3):c.1090C>T (p.His364Tyr)
NM_000814.6(GABRB3):c.1097A>G (p.Asn366Ser) rs759847671
NM_000814.6(GABRB3):c.1099A>G (p.Ile367Val)
NM_000814.6(GABRB3):c.1100T>C (p.Ile367Thr)
NM_000814.6(GABRB3):c.1105T>G (p.Leu369Val)
NM_000814.6(GABRB3):c.1111T>G (p.Ser371Ala)
NM_000814.6(GABRB3):c.1115T>G (p.Leu372Arg)
NM_000814.6(GABRB3):c.1117G>A (p.Glu373Lys)
NM_000814.6(GABRB3):c.1127A>C (p.Asn376Thr) rs756866953
NM_000814.6(GABRB3):c.1136A>G (p.Asn379Ser)
NM_000814.6(GABRB3):c.1148G>A (p.Gly383Asp) rs1567090411
NM_000814.6(GABRB3):c.1151G>T (p.Gly384Val)
NM_000814.6(GABRB3):c.1178T>C (p.Ile393Thr)
NM_000814.6(GABRB3):c.1182del (p.Phe395fs) rs2140645684
NM_000814.6(GABRB3):c.118A>G (p.Thr40Ala)
NM_000814.6(GABRB3):c.1192T>A (p.Ser398Thr)
NM_000814.6(GABRB3):c.119C>T (p.Thr40Met) rs1178513934
NM_000814.6(GABRB3):c.11T>G (p.Leu4Arg)
NM_000814.6(GABRB3):c.1211A>T (p.Lys404Ile) rs2140645593
NM_000814.6(GABRB3):c.1216_1217del (p.Ser406fs)
NM_000814.6(GABRB3):c.1219A>G (p.Met407Val)
NM_000814.6(GABRB3):c.1225C>T (p.Arg409Ter) rs1555400368
NM_000814.6(GABRB3):c.1240C>T (p.Arg414Ter) rs536564598
NM_000814.6(GABRB3):c.1250G>A (p.Gly417Glu) rs1889319677
NM_000814.6(GABRB3):c.1276A>C (p.Thr426Pro)
NM_000814.6(GABRB3):c.1285C>T (p.Arg429Trp)
NM_000814.6(GABRB3):c.1302G>C (p.Gln434His)
NM_000814.6(GABRB3):c.1303C>G (p.Leu435Val)
NM_000814.6(GABRB3):c.1307A>C (p.Lys436Thr) rs2140645254
NM_000814.6(GABRB3):c.1321dup (p.Asp441fs) rs2140645222
NM_000814.6(GABRB3):c.1348A>T (p.Arg450Ter) rs2140645141
NM_000814.6(GABRB3):c.1362C>G (p.Ile454Met) rs745449592
NM_000814.6(GABRB3):c.1368del (p.Pro457fs)
NM_000814.6(GABRB3):c.1384C>G (p.Leu462Val)
NM_000814.6(GABRB3):c.1399T>C (p.Tyr467His) rs1889312439
NM_000814.6(GABRB3):c.1400A>C (p.Tyr467Ser)
NM_000814.6(GABRB3):c.1414_1416del (p.Val472del)
NM_000814.6(GABRB3):c.1419C>G (p.Asn473Lys)
NM_000814.6(GABRB3):c.143A>G (p.Tyr48Cys) rs2140199598
NM_000814.6(GABRB3):c.145G>A (p.Asp49Asn)
NM_000814.6(GABRB3):c.147C>G (p.Asp49Glu) rs557694936
NM_000814.6(GABRB3):c.160C>T (p.Pro54Ser)
NM_000814.6(GABRB3):c.167T>C (p.Phe56Ser) rs1891185887
NM_000814.6(GABRB3):c.169G>C (p.Gly57Arg) rs1891185775
NM_000814.6(GABRB3):c.172+3_172+6del rs2140199548
NM_000814.6(GABRB3):c.172+6T>C
NM_000814.6(GABRB3):c.173G>T (p.Gly58Val)
NM_000814.6(GABRB3):c.175C>T (p.Pro59Ser) rs1555383878
NM_000814.6(GABRB3):c.184T>G (p.Cys62Gly) rs1595363628
NM_000814.6(GABRB3):c.190G>C (p.Gly64Arg) rs2140199113
NM_000814.6(GABRB3):c.191G>A (p.Gly64Glu) rs1891175434
NM_000814.6(GABRB3):c.227C>T (p.Ser76Phe)
NM_000814.6(GABRB3):c.231A>T (p.Glu77Asp)
NM_000814.6(GABRB3):c.233T>A (p.Val78Asp)
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr) rs1064794797
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_000814.6(GABRB3):c.240+5G>C
NM_000814.6(GABRB3):c.240G>A (p.Met80Ile) rs2140199021
NM_000814.6(GABRB3):c.245A>C (p.Tyr82Ser) rs1892483792
NM_000814.6(GABRB3):c.245A>G (p.Tyr82Cys) rs1892483792
NM_000814.6(GABRB3):c.267A>G (p.Gln89=) rs1892482774
NM_000814.6(GABRB3):c.26T>C (p.Leu9Pro)
NM_000814.6(GABRB3):c.282T>G (p.Asp94Glu) rs2140537278
NM_000814.6(GABRB3):c.296A>G (p.Tyr99Cys) rs1566778864
NM_000814.6(GABRB3):c.29T>A (p.Phe10Tyr)
NM_000814.6(GABRB3):c.308C>A (p.Pro103His) rs1892480524
NM_000814.6(GABRB3):c.310C>T (p.Leu104Phe) rs2140537193
NM_000814.6(GABRB3):c.311T>C (p.Leu104Pro) rs2140537185
NM_000814.6(GABRB3):c.320C>T (p.Thr107Met) rs1347499222
NM_000814.6(GABRB3):c.332G>A (p.Arg111Gln)
NM_000814.6(GABRB3):c.352G>A (p.Val118Met) rs1281101862
NM_000814.6(GABRB3):c.394C>T (p.His132Tyr) rs1892476793
NM_000814.6(GABRB3):c.40T>G (p.Ser14Ala)
NM_000814.6(GABRB3):c.413A>C (p.Asn138Thr) rs1892475991
NM_000814.6(GABRB3):c.416G>A (p.Arg139His) rs1197311612
NM_000814.6(GABRB3):c.416G>T (p.Arg139Leu)
NM_000814.6(GABRB3):c.418A>G (p.Met140Val) rs1555371848
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys) rs1892475061
NM_000814.6(GABRB3):c.428T>G (p.Leu143Arg) rs1595489812
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
NM_000814.6(GABRB3):c.454G>A (p.Gly152Arg)
NM_000814.6(GABRB3):c.458T>C (p.Leu153Pro) rs1892473840
NM_000814.6(GABRB3):c.461+4T>A
NM_000814.6(GABRB3):c.461+5G>T rs1892473626
NM_000814.6(GABRB3):c.462-6T>A
NM_000814.6(GABRB3):c.46C>T (p.Pro16Ser)
NM_000814.6(GABRB3):c.479C>T (p.Ala160Val) rs1890858644
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile) rs2140737836
NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu) rs1555368630
NM_000814.6(GABRB3):c.514G>C (p.Glu172Gln)
NM_000814.6(GABRB3):c.522C>G (p.Asn174Lys) rs2140737726
NM_000814.6(GABRB3):c.525C>G (p.Cys175Trp)
NM_000814.6(GABRB3):c.526A>G (p.Thr176Ala)
NM_000814.6(GABRB3):c.53T>A (p.Leu18Gln) rs2140199978
NM_000814.6(GABRB3):c.544+11G>T
NM_000814.6(GABRB3):c.544T>C (p.Tyr182His)
NM_000814.6(GABRB3):c.545A>G (p.Tyr182Cys) rs886037939
NM_000814.6(GABRB3):c.553A>C (p.Thr185Pro) rs1890748867
NM_000814.6(GABRB3):c.55G>C (p.Val19Leu) rs1891194798
NM_000814.6(GABRB3):c.563A>T (p.Asp188Val)
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln) rs369581041
NM_000814.6(GABRB3):c.593A>C (p.Lys198Thr)
NM_000814.6(GABRB3):c.59C>T (p.Ala20Val) rs2140199975
NM_000814.6(GABRB3):c.64G>T (p.Val22Leu)
NM_000814.6(GABRB3):c.659C>T (p.Ser220Leu)
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del) rs2140730286
NM_000814.6(GABRB3):c.668T>A (p.Val223Asp) rs2140730292
NM_000814.6(GABRB3):c.670G>T (p.Val224Phe)
NM_000814.6(GABRB3):c.673T>G (p.Phe225Val) rs2140730279
NM_000814.6(GABRB3):c.679A>G (p.Thr227Ala) rs1890741727
NM_000814.6(GABRB3):c.683-3T>C rs79917963
NM_000814.6(GABRB3):c.689A>G (p.Tyr230Cys) rs1890231872
NM_000814.6(GABRB3):c.701C>T (p.Ser234Leu) rs1567113254
NM_000814.6(GABRB3):c.719A>G (p.Lys240Arg)
NM_000814.6(GABRB3):c.778C>A (p.Leu260Met)
NM_000814.6(GABRB3):c.782_783delinsTA (p.Ser261Leu) rs1890228050
NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe) rs2140696672
NM_000814.6(GABRB3):c.799A>G (p.Ile267Val) rs2140696625
NM_000814.6(GABRB3):c.80+15G>A
NM_000814.6(GABRB3):c.804T>G (p.Asn268Lys)
NM_000814.6(GABRB3):c.835+5G>T rs374357218
NM_000814.6(GABRB3):c.835+6T>C rs1890226391
NM_000814.6(GABRB3):c.835G>A (p.Gly279Arg) rs1890226806
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000814.6(GABRB3):c.845C>T (p.Thr282Ile)
NM_000814.6(GABRB3):c.850_852dup (p.Leu284dup) rs2140680304
NM_000814.6(GABRB3):c.866T>C (p.Ile289Thr)
NM_000814.6(GABRB3):c.868A>C (p.Asn290His)
NM_000814.6(GABRB3):c.878T>C (p.Leu293Pro) rs2140680258
NM_000814.6(GABRB3):c.87C>G (p.Asn29Lys) rs772263479
NM_000814.6(GABRB3):c.881G>A (p.Arg294Gln)
NM_000814.6(GABRB3):c.892C>T (p.Pro298Ser)
NM_000814.6(GABRB3):c.896A>G (p.Lys299Arg)
NM_000814.6(GABRB3):c.898A>G (p.Ile300Val) rs1567106362
NM_000814.6(GABRB3):c.89A>C (p.Asp30Ala)
NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu) rs1555401426
NM_000814.6(GABRB3):c.91_92delinsTT (p.Pro31Phe)
NM_000814.6(GABRB3):c.932T>C (p.Met311Thr) rs1889964664
NM_000814.6(GABRB3):c.943G>A (p.Val315Ile) rs1889964397
NM_000814.6(GABRB3):c.943G>T (p.Val315Phe)
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) rs71651682
NM_000814.6(GABRB3):c.958G>A (p.Ala320Thr) rs2140680027
NM_000814.6(GABRB3):c.967G>A (p.Glu323Lys)
NM_000814.6(GABRB3):c.985T>C (p.Tyr329His) rs1889963053
NM_000814.6(GABRB3):c.995T>C (p.Phe332Ser) rs1555401411
NM_000816.3(GABRG2):c.-241A>C rs886060377
NM_000816.3(GABRG2):c.-268C>A rs886060375
NM_001127644.2(GABRA1):c.*1319A>G rs886060367
NM_001127644.2(GABRA1):c.*1443A>G rs575959204
NM_001127644.2(GABRA1):c.*1526A>G rs540638714
NM_001127644.2(GABRA1):c.*1611G>A rs903295997
NM_001127644.2(GABRA1):c.*1659A>G rs886060370
NM_001127644.2(GABRA1):c.*1749T>C rs1755506626
NM_001127644.2(GABRA1):c.*1837C>G rs886060371
NM_001127644.2(GABRA1):c.*1938A>G rs1755514760
NM_001127644.2(GABRA1):c.*242C>G rs1755432560
NM_001127644.2(GABRA1):c.*302A>G rs886060364
NM_001127644.2(GABRA1):c.*580G>A rs534982201
NM_001127644.2(GABRA1):c.*580G>T rs534982201
NM_001127644.2(GABRA1):c.*826G>A rs957754896
NM_001127644.2(GABRA1):c.-10C>G rs376699435
NM_001127644.2(GABRA1):c.-15-5T>G rs1757413235
NM_001127644.2(GABRA1):c.-195A>G rs886060359
NM_001127644.2(GABRA1):c.1001T>G (p.Val334Gly)
NM_001127644.2(GABRA1):c.1004A>T (p.Asn335Ile) rs1581220295
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1033G>A (p.Asp345Asn) rs2113465051
NM_001127644.2(GABRA1):c.103C>A (p.Leu35Ile)
NM_001127644.2(GABRA1):c.1043G>C (p.Ser348Thr)
NM_001127644.2(GABRA1):c.1069G>A (p.Val357Ile)
NM_001127644.2(GABRA1):c.1070T>A (p.Val357Glu) rs749707253
NM_001127644.2(GABRA1):c.1078C>A (p.Pro360Thr)
NM_001127644.2(GABRA1):c.1078C>G (p.Pro360Ala)
NM_001127644.2(GABRA1):c.1078C>T (p.Pro360Ser)
NM_001127644.2(GABRA1):c.1081C>T (p.Leu361Phe)
NM_001127644.2(GABRA1):c.1105G>A (p.Ala369Thr) rs775344663
NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser) rs1424508480
NM_001127644.2(GABRA1):c.1138G>C (p.Ala380Pro) rs2113469735
NM_001127644.2(GABRA1):c.1145G>A (p.Gly382Asp)
NM_001127644.2(GABRA1):c.1151C>G (p.Pro384Arg)
NM_001127644.2(GABRA1):c.1158A>T (p.Leu386Phe)
NM_001127644.2(GABRA1):c.1159G>T (p.Ala387Ser) rs1561588765
NM_001127644.2(GABRA1):c.1160C>T (p.Ala387Val) rs1755408701
NM_001127644.2(GABRA1):c.1162A>C (p.Thr388Pro) rs2113469919
NM_001127644.2(GABRA1):c.1184T>C (p.Ile395Thr)
NM_001127644.2(GABRA1):c.1199T>C (p.Val400Ala)
NM_001127644.2(GABRA1):c.1202A>G (p.Lys401Arg) rs745362654
NM_001127644.2(GABRA1):c.1207G>A (p.Glu403Lys) rs775157869
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.1211C>G (p.Thr404Arg) rs768389200
NM_001127644.2(GABRA1):c.1244G>C (p.Ser415Thr) rs752803296
NM_001127644.2(GABRA1):c.1253A>G (p.Lys418Arg) rs1490107518
NM_001127644.2(GABRA1):c.1259A>G (p.Asp420Gly)
NM_001127644.2(GABRA1):c.1261C>T (p.Arg421Ter)
NM_001127644.2(GABRA1):c.1274T>C (p.Ile425Thr) rs1755414752
NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis) rs1755416915
NM_001127644.2(GABRA1):c.1322C>T (p.Thr441Met) rs145217327
NM_001127644.2(GABRA1):c.1332C>G (p.Asn444Lys) rs1554087843
NM_001127644.2(GABRA1):c.1350dup (p.Ala451fs)
NM_001127644.2(GABRA1):c.1351G>A (p.Ala451Thr) rs1312439667
NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup) rs1755419468
NM_001127644.2(GABRA1):c.1357A>C (p.Thr453Pro) rs747892371
NM_001127644.2(GABRA1):c.1358_1359delinsTC (p.Thr453Ile)
NM_001127644.2(GABRA1):c.1366C>T (p.Gln456Ter) rs1755420995
NM_001127644.2(GABRA1):c.138G>T (p.Leu46Phe)
NM_001127644.2(GABRA1):c.13C>T (p.Pro5Ser) rs866369940
NM_001127644.2(GABRA1):c.167G>A (p.Arg56His)
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu) rs1064796448
NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys) rs1753807484
NM_001127644.2(GABRA1):c.191G>A (p.Arg64His) rs1753807587
NM_001127644.2(GABRA1):c.200A>T (p.Glu67Val)
NM_001127644.2(GABRA1):c.20T>G (p.Leu7Arg)
NM_001127644.2(GABRA1):c.214A>C (p.Ile72Leu)
NM_001127644.2(GABRA1):c.216C>G (p.Ile72Met)
NM_001127644.2(GABRA1):c.217T>A (p.Phe73Ile) rs1753808798
NM_001127644.2(GABRA1):c.226A>G (p.Ser76Gly) rs1402107983
NM_001127644.2(GABRA1):c.227G>A (p.Ser76Asn)
NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg) rs1561571575
NM_001127644.2(GABRA1):c.234A>C (p.Gly78=) rs1753809692
NM_001127644.2(GABRA1):c.243A>C (p.Ser81=) rs1362339390
NM_001127644.2(GABRA1):c.250G>C (p.Asp84His)
NM_001127644.2(GABRA1):c.253A>G (p.Met85Val)
NM_001127644.2(GABRA1):c.268G>T (p.Asp90Tyr) rs796052488
NM_001127644.2(GABRA1):c.269A>G (p.Asp90Gly)
NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)
NM_001127644.2(GABRA1):c.287G>T (p.Ser96Ile)
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) rs1754197638
NM_001127644.2(GABRA1):c.312T>G (p.Phe104Leu) rs2113381036
NM_001127644.2(GABRA1):c.320C>A (p.Pro107His)
NM_001127644.2(GABRA1):c.320C>T (p.Pro107Leu)
NM_001127644.2(GABRA1):c.326C>T (p.Thr109Ile) rs2113381099
NM_001127644.2(GABRA1):c.332T>C (p.Leu111Pro)
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp) rs1754199170
NM_001127644.2(GABRA1):c.335G>T (p.Arg112Leu)
NM_001127644.2(GABRA1):c.35G>T (p.Trp12Leu)
NM_001127644.2(GABRA1):c.374A>G (p.Asp125Gly) rs2113381253
NM_001127644.2(GABRA1):c.379T>G (p.Phe127Val)
NM_001127644.2(GABRA1):c.37G>A (p.Ala13Thr)
NM_001127644.2(GABRA1):c.413A>G (p.Asn138Ser)
NM_001127644.2(GABRA1):c.419C>A (p.Thr140Asn)
NM_001127644.2(GABRA1):c.429C>A (p.Asn143Lys)
NM_001127644.2(GABRA1):c.42G>T (p.Trp14Cys)
NM_001127644.2(GABRA1):c.430A>G (p.Lys144Glu) rs2113381483
NM_001127644.2(GABRA1):c.439C>G (p.Arg147Gly)
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.474G>A (p.Met158Ile) rs1754206052
NM_001127644.2(GABRA1):c.481A>G (p.Thr161Ala)
NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp) rs1437350481
NM_001127644.2(GABRA1):c.534T>G (p.His178Gln) rs1754314083
NM_001127644.2(GABRA1):c.554G>T (p.Gly185Val) rs2113389243
NM_001127644.2(GABRA1):c.560A>G (p.Tyr187Cys)
NM_001127644.2(GABRA1):c.560A>T (p.Tyr187Phe) rs1388847957
NM_001127644.2(GABRA1):c.565T>C (p.Tyr189His)
NM_001127644.2(GABRA1):c.596C>G (p.Thr199Ser)
NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)
NM_001127644.2(GABRA1):c.611G>T (p.Arg204Leu)
NM_001127644.2(GABRA1):c.619G>T (p.Val207Phe) rs2113414552
NM_001127644.2(GABRA1):c.634G>C (p.Gly212Arg) rs1754664241
NM_001127644.2(GABRA1):c.637T>A (p.Ser213Thr) rs1581207094
NM_001127644.2(GABRA1):c.638C>T (p.Ser213Leu) rs1754664529
NM_001127644.2(GABRA1):c.649C>A (p.Gln217Lys) rs1554086437
NM_001127644.2(GABRA1):c.653A>C (p.Tyr218Ser) rs1754665353
NM_001127644.2(GABRA1):c.67G>A (p.Gly23Arg)
NM_001127644.2(GABRA1):c.702A>G (p.Thr234=) rs1392262946
NM_001127644.2(GABRA1):c.703+5G>A rs1754668246
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001127644.2(GABRA1):c.74+3_74+4delinsAT rs1757418856
NM_001127644.2(GABRA1):c.74+5G>A
NM_001127644.2(GABRA1):c.74+6G>A rs754431874
NM_001127644.2(GABRA1):c.770C>T (p.Thr257Ile) rs1755061866
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) rs1561584736
NM_001127644.2(GABRA1):c.790A>G (p.Thr264Ala)
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.79G>A (p.Gly27Arg)
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly) rs1755063375
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_001127644.2(GABRA1):c.817T>C (p.Trp273Arg)
NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser) rs1755063824
NM_001127644.2(GABRA1):c.828A>C (p.Arg276Ser)
NM_001127644.2(GABRA1):c.831G>T (p.Glu277Asp) rs764666718
NM_001127644.2(GABRA1):c.833C>A (p.Ser278Tyr)
NM_001127644.2(GABRA1):c.833C>T (p.Ser278Phe)
NM_001127644.2(GABRA1):c.850G>C (p.Val284Leu) rs1755065243
NM_001127644.2(GABRA1):c.857-19_857-18delinsCC
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) rs796052493
NM_001127644.2(GABRA1):c.85C>A (p.Pro29Thr)
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg) rs796052495
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) rs1755333582
NM_001127644.2(GABRA1):c.920T>C (p.Val307Ala) rs1581220195
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp) rs1554087620
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile) rs1581220210
NM_001127644.2(GABRA1):c.955G>A (p.Val319Met) rs2113464702
NM_001127644.2(GABRA1):c.962A>G (p.Tyr321Cys) rs1755336507
NM_001127644.2(GABRA1):c.97G>A (p.Asp33Asn)
NM_001127644.2(GABRA1):c.983T>C (p.Leu328Pro)
NM_001127644.2(GABRA1):c.998C>T (p.Thr333Ile) rs2113464870
NM_021098.3(CACNA1H):c.1213-10C>G rs373660548
NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met) rs370007023
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp) rs988908130
NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly) rs770949848
NM_021098.3(CACNA1H):c.1399A>G (p.Ile467Val) rs1967962877
NM_021098.3(CACNA1H):c.1426T>G (p.Leu476Val) rs918496310
NM_021098.3(CACNA1H):c.145T>C (p.Ser49Pro) rs1397714230
NM_021098.3(CACNA1H):c.1474C>G (p.Pro492Ala) rs935642453
NM_021098.3(CACNA1H):c.1567CAC[7] (p.His528dup) rs760736442
NM_021098.3(CACNA1H):c.1783_1788del (p.Ala595_Ala596del) rs762960317
NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile) rs773099504
NM_021098.3(CACNA1H):c.1915G>A (p.Gly639Arg) rs1555512240
NM_021098.3(CACNA1H):c.1930G>A (p.Gly644Arg) rs761227158
NM_021098.3(CACNA1H):c.1938C>A (p.His646Gln) rs771171443
NM_021098.3(CACNA1H):c.1961C>G (p.Pro654Arg) rs778111473
NM_021098.3(CACNA1H):c.1987G>A (p.Val663Met) rs140979551
NM_021098.3(CACNA1H):c.2063C>T (p.Pro688Leu) rs2141277985
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp) rs1596418694
NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu) rs200422681
NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg) rs774748739
NM_021098.3(CACNA1H):c.2132A>G (p.Glu711Gly) rs1450545207
NM_021098.3(CACNA1H):c.2179G>A (p.Val727Ile) rs781150755
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) rs1555513044
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu) rs372759314
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu) rs1402942281
NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del) rs1420201619
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser) rs369356684
NM_021098.3(CACNA1H):c.2890A>G (p.Ile964Val) rs1968823371
NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val) rs766946572
NM_021098.3(CACNA1H):c.3016C>T (p.Leu1006Phe) rs1242224134
NM_021098.3(CACNA1H):c.3155-7C>G rs376008324
NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met) rs369966669
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys) rs369474500
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe) rs369474500
NM_021098.3(CACNA1H):c.3304G>A (p.Asp1102Asn) rs1555514961
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.3368G>C (p.Ser1123Thr) rs1317286644
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del) rs746597383
NM_021098.3(CACNA1H):c.343G>A (p.Val115Met) rs375342465
NM_021098.3(CACNA1H):c.3566G>A (p.Arg1189His) rs1233148543
NM_021098.3(CACNA1H):c.3577C>G (p.Leu1193Val) rs1461904626
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala) rs1555515661
NM_021098.3(CACNA1H):c.3614G>C (p.Arg1205Pro) rs58594334
NM_021098.3(CACNA1H):c.3625C>T (p.Leu1209Phe) rs1969139516
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg) rs746322724
NM_021098.3(CACNA1H):c.3694A>G (p.Ile1232Val) rs780672769
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp) rs571145188
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys) rs372000875
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His) rs534632699
NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg) rs750607074
NM_021098.3(CACNA1H):c.3818C>T (p.Ala1273Val) rs1969249888
NM_021098.3(CACNA1H):c.3844C>T (p.Arg1282Trp) rs763465373
NM_021098.3(CACNA1H):c.3851G>A (p.Arg1284His) rs748613561
NM_021098.3(CACNA1H):c.3929C>T (p.Thr1310Ile) rs949144433
NM_021098.3(CACNA1H):c.4007C>A (p.Thr1336Lys) rs370725735
NM_021098.3(CACNA1H):c.4283G>A (p.Arg1428Lys)
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala) rs1567541260
NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile) rs1966873640
NM_021098.3(CACNA1H):c.4592T>G (p.Met1531Arg) rs2141351732
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val) rs558718048
NM_021098.3(CACNA1H):c.4717C>T (p.Arg1573Ter) rs1567543511
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu) rs774569737
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) rs1555518356
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His) rs377532485
NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu) rs119454947
NM_021098.3(CACNA1H):c.4994C>T (p.Ala1665Val) rs1317563201
NM_021098.3(CACNA1H):c.502G>A (p.Gly168Ser) rs1966875937
NM_021098.3(CACNA1H):c.5080A>G (p.Met1694Val) rs2141376108
NM_021098.3(CACNA1H):c.5173+9C>G rs1018925405
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=) rs370996432
NM_021098.3(CACNA1H):c.5445+4C>G rs147142971
NM_021098.3(CACNA1H):c.5480A>G (p.His1827Arg) rs202070652
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met) rs778637721
NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His) rs376984823
NM_021098.3(CACNA1H):c.5837G>T (p.Arg1946Leu) rs376984823
NM_021098.3(CACNA1H):c.592A>G (p.Ile198Val) rs774463255
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp) rs753241781
NM_021098.3(CACNA1H):c.6048+2_6048+5del rs1172256364
NM_021098.3(CACNA1H):c.6122G>C (p.Gly2041Ala)
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn) rs1567558436
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp) rs373707854
NM_021098.3(CACNA1H):c.6203G>A (p.Arg2068His) rs765706404
NM_021098.3(CACNA1H):c.6209G>C (p.Arg2070Pro) rs777897759
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu) rs371550084
NM_021098.3(CACNA1H):c.634C>T (p.Arg212Cys) rs370434906
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu) rs752385455
NM_021098.3(CACNA1H):c.6445C>T (p.Arg2149Trp) rs752621913
NM_021098.3(CACNA1H):c.6454G>A (p.Glu2152Lys) rs761679939
NM_021098.3(CACNA1H):c.6551AGA[2] (p.Lys2186del) rs766893201
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser) rs538538654
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg) rs200606995
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) rs772718469
NM_021098.3(CACNA1H):c.6895G>T (p.Ala2299Ser) rs2141413125
NM_021098.3(CACNA1H):c.6929C>T (p.Pro2310Leu) rs2141413399
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu) rs759417643
NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr) rs757713867
NM_021098.3(CACNA1H):c.7057G>C (p.Val2353Leu) rs150601404
NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg) rs1195218337
NM_021912.5(GABRB3):c.2T>C (p.Met1Thr) rs1595364724
NM_198904.4(GABRG2):c.*1392A>T rs886060386
NM_198904.4(GABRG2):c.*1763A>T rs886060387
NM_198904.4(GABRG2):c.*1838T>A rs1039081493
NM_198904.4(GABRG2):c.*1889C>A rs886060388
NM_198904.4(GABRG2):c.*194G>A rs758832535
NM_198904.4(GABRG2):c.*1981G>C rs886060389
NM_198904.4(GABRG2):c.*250A>C rs886060384
NM_198904.4(GABRG2):c.-179T>A rs886060378
NM_198904.4(GABRG2):c.1001C>T (p.Ala334Val) rs1415043929
NM_198904.4(GABRG2):c.1007A>G (p.Asp336Gly) rs1060501890
NM_198904.4(GABRG2):c.1008T>A (p.Asp336Glu)
NM_198904.4(GABRG2):c.1010T>G (p.Leu337Arg) rs1765180862
NM_198904.4(GABRG2):c.1012T>C (p.Phe338Leu) rs1765181104
NM_198904.4(GABRG2):c.1025G>A (p.Cys342Tyr) rs2113633149
NM_198904.4(GABRG2):c.1036G>T (p.Val346Phe)
NM_198904.4(GABRG2):c.1037T>G (p.Val346Gly)
NM_198904.4(GABRG2):c.1045G>A (p.Ala349Thr) rs756959300
NM_198904.4(GABRG2):c.1046C>A (p.Ala349Asp)
NM_198904.4(GABRG2):c.104C>T (p.Pro35Leu)
NM_198904.4(GABRG2):c.1057T>C (p.Tyr353His)
NM_198904.4(GABRG2):c.106G>A (p.Gly36Ser) rs866056788
NM_198904.4(GABRG2):c.107+6A>G rs868452487
NM_198904.4(GABRG2):c.107+6A>T
NM_198904.4(GABRG2):c.107G>A (p.Gly36Asp) rs1266267390
NM_198904.4(GABRG2):c.1087C>G (p.Arg363Gly) rs374512652
NM_198904.4(GABRG2):c.1112A>C (p.Lys371Thr) rs796052512
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) rs727503941
NM_198904.4(GABRG2):c.1115A>G (p.Lys372Arg) rs1765190002
NM_198904.4(GABRG2):c.1127C>T (p.Pro376Leu)
NM_198904.4(GABRG2):c.1128+6T>C
NM_198904.4(GABRG2):c.1153-11C>A
NM_198904.4(GABRG2):c.1153-15C>G
NM_198904.4(GABRG2):c.1153-2A>G rs1554101185
NM_198904.4(GABRG2):c.1156C>G (p.Pro386Ala)
NM_198904.4(GABRG2):c.1186A>G (p.Thr396Ala)
NM_198904.4(GABRG2):c.1197G>T (p.Met399Ile) rs1581462722
NM_198904.4(GABRG2):c.1204G>A (p.Ala402Thr)
NM_198904.4(GABRG2):c.1237G>A (p.Gly413Ser)
NM_198904.4(GABRG2):c.1268C>T (p.Ala423Val)
NM_198904.4(GABRG2):c.126TGA[2] (p.Asp45del) rs769160013
NM_198904.4(GABRG2):c.1271G>T (p.Ser424Ile)
NM_198904.4(GABRG2):c.1277T>C (p.Phe426Ser) rs2113650980
NM_198904.4(GABRG2):c.1279T>C (p.Cys427Arg) rs1200142311
NM_198904.4(GABRG2):c.1282T>C (p.Cys428Arg)
NM_198904.4(GABRG2):c.128A>T (p.Asp43Val)
NM_198904.4(GABRG2):c.1295G>T (p.Cys432Phe)
NM_198904.4(GABRG2):c.1313G>A (p.Arg438Lys) rs796052514
NM_198904.4(GABRG2):c.1318G>A (p.Gly440Arg)
NM_198904.4(GABRG2):c.1324A>G (p.Ile442Val)
NM_198904.4(GABRG2):c.1331T>C (p.Ile444Thr) rs1765504023
NM_198904.4(GABRG2):c.1333C>T (p.Arg445Cys) rs1561662358
NM_198904.4(GABRG2):c.1337T>A (p.Ile446Asn) rs2113651245
NM_198904.4(GABRG2):c.1348G>A (p.Asp450Asn)
NM_198904.4(GABRG2):c.1348G>C (p.Asp450His)
NM_198904.4(GABRG2):c.134A>G (p.Asp45Gly)
NM_198904.4(GABRG2):c.1357del (p.Ala453fs)
NM_198904.4(GABRG2):c.1358C>A (p.Ala453Asp)
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp) rs796052515
NM_198904.4(GABRG2):c.1361G>A (p.Arg454Gln) rs904388241
NM_198904.4(GABRG2):c.1367_1370del (p.Phe456fs)
NM_198904.4(GABRG2):c.1383C>G (p.Phe461Leu) rs1765508103
NM_198904.4(GABRG2):c.1393A>T (p.Asn465Tyr) rs1581463309
NM_198904.4(GABRG2):c.1400T>G (p.Val467Gly)
NM_198904.4(GABRG2):c.1405T>C (p.Trp469Arg) rs2113651577
NM_198904.4(GABRG2):c.1409T>C (p.Val470Ala)
NM_198904.4(GABRG2):c.1415dup (p.Tyr472Ter) rs1210628894
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=) rs886060383
NM_198904.4(GABRG2):c.144T>A (p.Asp48Glu)
NM_198904.4(GABRG2):c.173C>T (p.Thr58Ile)
NM_198904.4(GABRG2):c.179A>T (p.Lys60Ile)
NM_198904.4(GABRG2):c.185C>T (p.Pro62Leu) rs771317794
NM_198904.4(GABRG2):c.189G>C (p.Glu63Asp) rs774756037
NM_198904.4(GABRG2):c.1A>G (p.Met1Val) rs1581275976
NM_198904.4(GABRG2):c.206T>C (p.Ile69Thr)
NM_198904.4(GABRG2):c.216C>A (p.Asn72Lys)
NM_198904.4(GABRG2):c.241C>T (p.Leu81Phe)
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.251A>T (p.Asp84Val)
NM_198904.4(GABRG2):c.259+5G>A
NM_198904.4(GABRG2):c.25A>C (p.Thr9Pro) rs2113080489
NM_198904.4(GABRG2):c.260T>G (p.Val87Gly)
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.276T>G (p.Ile92Met)
NM_198904.4(GABRG2):c.287T>C (p.Met96Thr)
NM_198904.4(GABRG2):c.290A>T (p.Tyr97Phe) rs2113309275
NM_198904.4(GABRG2):c.293T>A (p.Val98Glu)
NM_198904.4(GABRG2):c.299G>T (p.Ser100Ile)
NM_198904.4(GABRG2):c.302T>C (p.Ile101Thr)
NM_198904.4(GABRG2):c.303T>C (p.Ile101=) rs1760937526
NM_198904.4(GABRG2):c.306_311del (p.Pro103_Val104del)
NM_198904.4(GABRG2):c.308C>T (p.Pro103Leu)
NM_198904.4(GABRG2):c.327+6T>C rs1760938978
NM_198904.4(GABRG2):c.328-3C>G
NM_198904.4(GABRG2):c.349T>G (p.Phe117Val)
NM_198904.4(GABRG2):c.365A>G (p.Tyr122Cys) rs1554097875
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.374G>A (p.Arg125His)
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn) rs1194428749
NM_198904.4(GABRG2):c.394A>G (p.Ile132Val) rs752621588
NM_198904.4(GABRG2):c.3G>T (p.Met1Ile) rs1758351092
NM_198904.4(GABRG2):c.401T>C (p.Val134Ala) rs2113325670
NM_198904.4(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe) rs74930063
NM_198904.4(GABRG2):c.419A>G (p.Asn140Ser) rs1554097879
NM_198904.4(GABRG2):c.421A>G (p.Met141Val)
NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu) rs747372679
NM_198904.4(GABRG2):c.432A>C (p.Lys144Asn) rs1761105874
NM_198904.4(GABRG2):c.445G>C (p.Asp149His) rs2113326238
NM_198904.4(GABRG2):c.447C>A (p.Asp149Glu) rs1761106635
NM_198904.4(GABRG2):c.451T>G (p.Phe151Val) rs2113326347
NM_198904.4(GABRG2):c.455T>C (p.Phe152Ser) rs1581350948
NM_198904.4(GABRG2):c.464C>T (p.Ser155Phe) rs267600531
NM_198904.4(GABRG2):c.476A>C (p.Asp159Ala)
NM_198904.4(GABRG2):c.48_49inv (p.Pro17Thr)
NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala) rs1429217294
NM_198904.4(GABRG2):c.504G>C (p.Arg168Ser)
NM_198904.4(GABRG2):c.506T>C (p.Met169Thr) rs2113327195
NM_198904.4(GABRG2):c.548+4T>C
NM_198904.4(GABRG2):c.548+6C>A rs956763211
NM_198904.4(GABRG2):c.548G>T (p.Arg183Met)
NM_198904.4(GABRG2):c.549G>A (p.Arg183=) rs1761390378
NM_198904.4(GABRG2):c.550T>A (p.Leu184Met)
NM_198904.4(GABRG2):c.569G>T (p.Cys190Phe) rs2113352368
NM_198904.4(GABRG2):c.583C>A (p.His195Asn) rs981863613
NM_198904.4(GABRG2):c.596T>C (p.Met199Thr) rs770506471
NM_198904.4(GABRG2):c.608C>G (p.Ser203Cys) rs1334273668
NM_198904.4(GABRG2):c.631+4A>C rs1761398393
NM_198904.4(GABRG2):c.631+5G>C
NM_198904.4(GABRG2):c.631+5_631+8del
NM_198904.4(GABRG2):c.631+6T>C rs1761398589
NM_198904.4(GABRG2):c.643C>A (p.Arg215Ser)
NM_198904.4(GABRG2):c.644G>C (p.Arg215Pro) rs1561645172
NM_198904.4(GABRG2):c.644G>T (p.Arg215Leu) rs1561645172
NM_198904.4(GABRG2):c.650A>G (p.Glu217Gly) rs1761616421
NM_198904.4(GABRG2):c.659A>G (p.Tyr220Cys) rs2113370519
NM_198904.4(GABRG2):c.671G>A (p.Arg224Gln)
NM_198904.4(GABRG2):c.679G>A (p.Val227Ile)
NM_198904.4(GABRG2):c.690C>A (p.Gly230=) rs747988447
NM_198904.4(GABRG2):c.691G>T (p.Asp231Tyr)
NM_198904.4(GABRG2):c.6T>G (p.Ser2Arg)
NM_198904.4(GABRG2):c.71C>A (p.Thr24Lys) rs1060501891
NM_198904.4(GABRG2):c.71C>G (p.Thr24Arg) rs1060501891
NM_198904.4(GABRG2):c.721T>G (p.Ser241Ala)
NM_198904.4(GABRG2):c.727G>A (p.Val243Ile)
NM_198904.4(GABRG2):c.727G>T (p.Val243Phe) rs1287665753
NM_198904.4(GABRG2):c.748G>A (p.Glu250Lys) rs549251133
NM_198904.4(GABRG2):c.761C>T (p.Thr254Ile) rs1761625389
NM_198904.4(GABRG2):c.769+5G>C rs1761626533
NM_198904.4(GABRG2):c.769+8_769+9delinsAA
NM_198904.4(GABRG2):c.76T>G (p.Trp26Gly)
NM_198904.4(GABRG2):c.770-17T>G
NM_198904.4(GABRG2):c.776A>G (p.Tyr259Cys)
NM_198904.4(GABRG2):c.835A>G (p.Thr279Ala)
NM_198904.4(GABRG2):c.836C>T (p.Thr279Ile) rs1254425203
NM_198904.4(GABRG2):c.838T>G (p.Tyr280Asp) rs1581439671
NM_198904.4(GABRG2):c.841A>T (p.Ile281Phe)
NM_198904.4(GABRG2):c.85C>T (p.Leu29Phe) rs2113081191
NM_198904.4(GABRG2):c.862G>A (p.Val288Ile)
NM_198904.4(GABRG2):c.872G>C (p.Trp291Ser) rs1764625911
NM_198904.4(GABRG2):c.874G>T (p.Val292Leu)
NM_198904.4(GABRG2):c.888C>G (p.Ile296Met) rs1382620492
NM_198904.4(GABRG2):c.890A>G (p.Asn297Ser) rs1764626977
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr) rs1764627724
NM_198904.4(GABRG2):c.898G>A (p.Ala300Thr) rs2113599106
NM_198904.4(GABRG2):c.89T>C (p.Leu30Pro)
NM_198904.4(GABRG2):c.907G>A (p.Ala303Thr) rs1581439874
NM_198904.4(GABRG2):c.919T>G (p.Leu307Val) rs796052509
NM_198904.4(GABRG2):c.923-11C>G
NM_198904.4(GABRG2):c.923G>A (p.Gly308Asp) rs1765171348
NM_198904.4(GABRG2):c.927C>G (p.Ile309Met) rs1554100910
NM_198904.4(GABRG2):c.929C>T (p.Thr310Ile) rs2113632484
NM_198904.4(GABRG2):c.931A>G (p.Thr311Ala) rs2113632510
NM_198904.4(GABRG2):c.935T>A (p.Val312Asp)
NM_198904.4(GABRG2):c.937C>A (p.Leu313Met) rs2113632536
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
NM_198904.4(GABRG2):c.950C>G (p.Thr317Ser) rs1765173859
NM_198904.4(GABRG2):c.952C>G (p.Leu318Val) rs1561660795
NM_198904.4(GABRG2):c.965C>A (p.Ala322Asp) rs1765176231
NM_198904.4(GABRG2):c.988T>A (p.Ser330Thr)
NM_198904.4(GABRG2):c.991T>A (p.Tyr331Asn)

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