ClinVar Miner

List of variants reported as likely benign for adolescent-onset epilepsy syndrome by Invitae

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1311
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HGVS dbSNP
NC_000007.13:g.(?_66103220)_(66105401_?)dup
NC_000013.11:g.76992002G>C rs763032153
NC_000013.11:g.76992062G>A rs1593906853
NM_000086.2(CLN3):c.1022G>A (p.Arg341His) rs201271341
NM_000086.2(CLN3):c.1135C>T (p.Leu379=) rs890026046
NM_000086.2(CLN3):c.1191C>T (p.Ala397=) rs779338007
NM_000086.2(CLN3):c.1197+8T>C rs587780895
NM_000086.2(CLN3):c.1198-5C>T rs764999720
NM_000086.2(CLN3):c.1209G>A (p.Glu403=) rs377369610
NM_000086.2(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_000086.2(CLN3):c.126-4C>A rs1555469191
NM_000086.2(CLN3):c.174C>T (p.Ala58=) rs138433617
NM_000086.2(CLN3):c.207G>A (p.Ser69=) rs551476103
NM_000086.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.304C>T (p.Leu102=) rs1167562278
NM_000086.2(CLN3):c.327C>T (p.Leu109=) rs748293490
NM_000086.2(CLN3):c.33T>C (p.Phe11=) rs1555469504
NM_000086.2(CLN3):c.375-19_375-4dup rs755313503
NM_000086.2(CLN3):c.420C>G (p.Val140=) rs544119921
NM_000086.2(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_000086.2(CLN3):c.519T>C (p.Thr173=) rs983162408
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.615C>T (p.Ala205=) rs145631076
NM_000086.2(CLN3):c.677+8G>A rs368568189
NM_000086.2(CLN3):c.777G>A (p.Pro259=) rs751443804
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000086.2(CLN3):c.882C>T (p.Ala294=) rs766972077
NM_000086.2(CLN3):c.962+7G>A rs1555468172
NM_000086.2(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_000086.2(CLN3):c.987C>T (p.Gly329=) rs777779035
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.12G>A (p.Gly4=) rs1555888494
NM_000100.3(CSTB):c.174C>T (p.His58=) rs763095750
NM_000100.3(CSTB):c.183C>T (p.Asp61=) rs772899788
NM_000100.3(CSTB):c.27G>C (p.Thr9=) rs945357152
NM_000100.3(CSTB):c.45G>A (p.Glu15=) rs1057521317
NM_000100.3(CSTB):c.54C>T (p.His18=) rs557717323
NM_000100.3(CSTB):c.96C>T (p.Asn32=) rs1436155713
NM_000100.4(CSTB):c.120C>T (p.Ala40=) rs368198839
NM_000310.3(PPT1):c.124+2TGAG[2] rs768863525
NM_000310.3(PPT1):c.225C>T (p.Thr75=) rs1477732757
NM_000310.3(PPT1):c.363-5C>T rs112553480
NM_000310.3(PPT1):c.513G>A (p.Ala171=) rs150924738
NM_000310.3(PPT1):c.543G>A (p.Val181=) rs374121503
NM_000310.3(PPT1):c.627+9C>T rs368895182
NM_000310.3(PPT1):c.651A>G (p.Lys217=) rs1553166517
NM_000310.3(PPT1):c.798+8G>A rs368106574
NM_000310.3(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.810G>C (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.4(PPT1):c.628-10T>C rs557560550
NM_000310.4(PPT1):c.657G>C (p.Leu219=) rs773591614
NM_000310.4(PPT1):c.723G>A (p.Ser241=) rs778863462
NM_000310.4(PPT1):c.732T>C (p.Phe244=) rs559580128
NM_000310.4(PPT1):c.750C>A (p.Gly250=) rs1244256818
NM_000310.4(PPT1):c.909A>G (p.Pro303=) rs1570448364
NM_000391.4(TPP1):c.1020C>G (p.Val340=) rs915667605
NM_000391.4(TPP1):c.1068C>T (p.Phe356=) rs769297657
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) rs140809393
NM_000391.4(TPP1):c.1089C>T (p.Ala363=) rs151068181
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972
NM_000391.4(TPP1):c.1131C>G (p.Thr377=) rs1444283440
NM_000391.4(TPP1):c.1266+8T>C rs752269166
NM_000391.4(TPP1):c.1267-9G>C rs1166231114
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) rs577520250
NM_000391.4(TPP1):c.135A>G (p.Glu45=) rs746004484
NM_000391.4(TPP1):c.1383G>A (p.Val461=) rs202190396
NM_000391.4(TPP1):c.1416C>T (p.Ser472=) rs773086052
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.1426-10A>T rs200965587
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1551+8T>C rs757218133
NM_000391.4(TPP1):c.1569T>C (p.His523=) rs1029334403
NM_000391.4(TPP1):c.1593A>G (p.Val531=) rs1554901473
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255
NM_000391.4(TPP1):c.18-10G>T rs778206032
NM_000391.4(TPP1):c.207G>A (p.Ser69=) rs761070664
NM_000391.4(TPP1):c.213C>T (p.Pro71=) rs143730817
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.4(TPP1):c.297G>A (p.Val99=) rs753066277
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021
NM_000391.4(TPP1):c.330G>A (p.Lys110=) rs145853102
NM_000391.4(TPP1):c.381-4C>G rs529421892
NM_000391.4(TPP1):c.438G>A (p.Thr146=) rs777339172
NM_000391.4(TPP1):c.509-5T>C rs375548657
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.544C>T (p.Leu182=) rs776858324
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205
NM_000391.4(TPP1):c.688-10C>T rs747731043
NM_000391.4(TPP1):c.688-4A>G rs370683758
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.741C>T (p.Phe247=) rs372817942
NM_000391.4(TPP1):c.918G>A (p.Gln306=) rs943551240
NM_000742.4(CHRNA2):c.1176C>T (p.Pro392=) rs764346961
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605
NM_000742.4(CHRNA2):c.1248G>C (p.Val416=) rs370878600
NM_000742.4(CHRNA2):c.1317C>T (p.His439=) rs775578495
NM_000742.4(CHRNA2):c.1335G>C (p.Gly445=) rs544902151
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000742.4(CHRNA2):c.1410G>A (p.Leu470=) rs1586388697
NM_000742.4(CHRNA2):c.1464+7_1464+8del rs763426344
NM_000742.4(CHRNA2):c.150G>T (p.Pro50=) rs758848783
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.1551C>T (p.Ile517=) rs777412930
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950
NM_000742.4(CHRNA2):c.210C>T (p.Tyr70=) rs144316375
NM_000742.4(CHRNA2):c.222G>A (p.Ala74=) rs369806823
NM_000742.4(CHRNA2):c.225C>T (p.Arg75=) rs371737919
NM_000742.4(CHRNA2):c.246C>T (p.Asp82=) rs201244136
NM_000742.4(CHRNA2):c.276C>T (p.Ile92=) rs201944711
NM_000742.4(CHRNA2):c.354C>T (p.Tyr118=) rs778279138
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.4(CHRNA2):c.45C>T (p.Ser15=) rs149934219
NM_000742.4(CHRNA2):c.609C>T (p.Ser203=) rs761237311
NM_000742.4(CHRNA2):c.699C>T (p.Ile233=) rs1321895505
NM_000742.4(CHRNA2):c.710C>A (p.Thr237Lys) rs140350483
NM_000742.4(CHRNA2):c.723C>T (p.Asn241=) rs1060504822
NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg) rs146751925
NM_000742.4(CHRNA2):c.735C>T (p.Tyr245=) rs775595773
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.4(CHRNA2):c.759C>T (p.Pro253=) rs144913811
NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr) rs200372256
NM_000742.4(CHRNA2):c.790C>T (p.Leu264=) rs746292157
NM_000742.4(CHRNA2):c.795G>A (p.Pro265=) rs756903177
NM_000742.4(CHRNA2):c.852G>A (p.Val284=) rs1357751027
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) rs76140563
NM_000742.4(CHRNA2):c.966G>A (p.Ser322=) rs140118184
NM_000742.4(CHRNA2):c.984C>T (p.Ile328=) rs371858399
NM_000744.6(CHRNA4):c.1158C>T (p.Pro386=) rs45564639
NM_000744.6(CHRNA4):c.1278C>T (p.Ser426=) rs202169925
NM_000744.6(CHRNA4):c.147C>T (p.Asn49=) rs201484306
NM_000744.6(CHRNA4):c.1758+9C>T rs202235637
NM_000744.6(CHRNA4):c.198C>T (p.Phe66=) rs201018244
NM_000744.6(CHRNA4):c.327C>T (p.Thr109=) rs200741415
NM_000744.6(CHRNA4):c.384-8C>G rs369806756
NM_000744.6(CHRNA4):c.384-9C>T rs199992800
NM_000744.6(CHRNA4):c.39G>A (p.Pro13=) rs1158391765
NM_000744.6(CHRNA4):c.669C>T (p.Tyr223=) rs79068736
NM_000744.6(CHRNA4):c.77-10C>T rs200490160
NM_000744.6(CHRNA4):c.77-5C>T rs200082259
NM_000744.6(CHRNA4):c.77-5del rs1209439525
NM_000744.6(CHRNA4):c.801G>A (p.Leu267=) rs747762347
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056
NM_000744.7(CHRNA4):c.1010C>T (p.Thr337Met) rs201673381
NM_000744.7(CHRNA4):c.1012C>G (p.His338Asp) rs200069626
NM_000744.7(CHRNA4):c.1033C>T (p.Arg345Cys) rs142260793
NM_000744.7(CHRNA4):c.105C>T (p.His35=) rs199541666
NM_000744.7(CHRNA4):c.1062C>T (p.Arg354=) rs764108665
NM_000744.7(CHRNA4):c.1083G>A (p.Pro361=) rs202140852
NM_000744.7(CHRNA4):c.1104C>T (p.Cys368=) rs202166947
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln) rs121912267
NM_000744.7(CHRNA4):c.1148G>A (p.Arg383His) rs762374374
NM_000744.7(CHRNA4):c.1160A>G (p.Glu387Gly) rs45604738
NM_000744.7(CHRNA4):c.1188C>T (p.Ser396=) rs201164674
NM_000744.7(CHRNA4):c.1227_1228inv (p.Val410Ile)
NM_000744.7(CHRNA4):c.1245G>A (p.Pro415=) rs200164578
NM_000744.7(CHRNA4):c.1266C>T (p.Cys422=) rs121912274
NM_000744.7(CHRNA4):c.1273C>T (p.Pro425Ser) rs764808511
NM_000744.7(CHRNA4):c.1283A>T (p.Gln428Leu) rs560507450
NM_000744.7(CHRNA4):c.1300C>A (p.Pro434Thr) rs545104411
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr) rs796052318
NM_000744.7(CHRNA4):c.1318G>C (p.Ala440Pro)
NM_000744.7(CHRNA4):c.132C>T (p.Leu44=) rs1555840462
NM_000744.7(CHRNA4):c.1334C>T (p.Ser445Leu) rs773253903
NM_000744.7(CHRNA4):c.1359C>T (p.His453=) rs121912276
NM_000744.7(CHRNA4):c.1376G>A (p.Gly459Glu) rs753201154
NM_000744.7(CHRNA4):c.1403T>C (p.Val468Ala) rs766778904
NM_000744.7(CHRNA4):c.1420C>T (p.Pro474Ser) rs773450609
NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val) rs200243948
NM_000744.7(CHRNA4):c.1440C>T (p.Gly480=) rs749506890
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498
NM_000744.7(CHRNA4):c.1484G>C (p.Arg495Pro) rs549863396
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658
NM_000744.7(CHRNA4):c.1527C>T (p.Ala509=) rs758693290
NM_000744.7(CHRNA4):c.1531G>T (p.Ala511Ser) rs200795334
NM_000744.7(CHRNA4):c.1551G>A (p.Ser517=) rs201441215
NM_000744.7(CHRNA4):c.1584G>A (p.Pro528=) rs199783192
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) rs121912283
NM_000744.7(CHRNA4):c.1645C>T (p.Arg549Cys) rs367658654
NM_000744.7(CHRNA4):c.1661C>T (p.Pro554Leu) rs56000199
NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.7(CHRNA4):c.1667C>T (p.Pro556Leu) rs77345643
NM_000744.7(CHRNA4):c.1700C>T (p.Ala567Val) rs76895198
NM_000744.7(CHRNA4):c.1711G>A (p.Val571Ile) rs121912285
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg) rs113794453
NM_000744.7(CHRNA4):c.1726G>C (p.Asp576His) rs537904499
NM_000744.7(CHRNA4):c.1757C>T (p.Ser586Leu) rs200644872
NM_000744.7(CHRNA4):c.177G>A (p.Ser59=) rs138295365
NM_000744.7(CHRNA4):c.17C>T (p.Pro6Leu) rs1238575890
NM_000744.7(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000744.7(CHRNA4):c.345C>T (p.Ser115=) rs201033859
NM_000744.7(CHRNA4):c.372C>T (p.Val124=) rs201386851
NM_000744.7(CHRNA4):c.41C>T (p.Pro14Leu) rs761934698
NM_000744.7(CHRNA4):c.42G>A (p.Pro14=) rs565990502
NM_000744.7(CHRNA4):c.438C>T (p.Asp146=) rs147853603
NM_000744.7(CHRNA4):c.552C>T (p.Tyr184=) rs112301452
NM_000744.7(CHRNA4):c.560C>G (p.Ala187Gly) rs200197645
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=) rs121912253
NM_000744.7(CHRNA4):c.777C>T (p.Cys259=) rs1555837947
NM_000744.7(CHRNA4):c.858C>T (p.Thr286=) rs121912257
NM_000744.7(CHRNA4):c.879C>T (p.Thr293=) rs371527699
NM_000744.7(CHRNA4):c.912A>G (p.Pro304=) rs1041716120
NM_000744.7(CHRNA4):c.963C>T (p.Ile321=) rs121912261
NM_000744.7(CHRNA4):c.99G>C (p.Arg33=) rs539718301
NM_000748.3(CHRNB2):c.1035G>T (p.Ala345=) rs778458803
NM_000748.3(CHRNB2):c.1035_1036delinsTT (p.Ala345_Leu346=) rs1571022654
NM_000748.3(CHRNB2):c.1080C>A (p.Arg360=) rs1180459670
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=) rs113116986
NM_000748.3(CHRNB2):c.1157C>G (p.Ser386Cys) rs542041934
NM_000748.3(CHRNB2):c.1200C>G (p.Ala400=) rs1020120934
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His) rs199999862
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) rs767533378
NM_000748.3(CHRNB2):c.123C>T (p.Arg41=) rs201171352
NM_000748.3(CHRNB2):c.1242G>C (p.Gly414=) rs1553204404
NM_000748.3(CHRNB2):c.1257G>T (p.Pro419=) rs199743038
NM_000748.3(CHRNB2):c.1339-6A>T rs200177119
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000748.3(CHRNB2):c.201C>T (p.Leu67=) rs773706734
NM_000748.3(CHRNB2):c.210+10G>A rs200196583
NM_000748.3(CHRNB2):c.213T>G (p.His71Gln)
NM_000748.3(CHRNB2):c.255+7G>A rs190374968
NM_000748.3(CHRNB2):c.360_362CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.441G>A (p.Pro147=) rs780464481
NM_000748.3(CHRNB2):c.639C>T (p.Asn213=) rs772174020
NM_000748.3(CHRNB2):c.648C>T (p.Pro216=) rs370886747
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=) rs1557851605
NM_000748.3(CHRNB2):c.708C>T (p.Phe236=) rs71628622
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692
NM_000748.3(CHRNB2):c.780C>T (p.Ser260=) rs369234693
NM_000748.3(CHRNB2):c.825G>A (p.Ala275=) rs140739605
NM_001042432.2(CLN3):c.1078C>T (p.Leu360=) rs1232787477
NM_001042432.2(CLN3):c.1095C>T (p.Phe365=) rs757106140
NM_001042432.2(CLN3):c.126-8C>T rs770136863
NM_001042432.2(CLN3):c.223-5A>G rs1210022838
NM_001042432.2(CLN3):c.258C>T (p.Ser86=) rs1596564281
NM_001042432.2(CLN3):c.294+10C>G rs367693072
NM_001042432.2(CLN3):c.294+10C>T rs367693072
NM_001042432.2(CLN3):c.312C>T (p.Asp104=) rs1596563212
NM_001042432.2(CLN3):c.414C>T (p.Ser138=) rs772960606
NM_001042432.2(CLN3):c.460+7G>C rs369389378
NM_001042432.2(CLN3):c.461-10C>T rs768274237
NM_001042432.2(CLN3):c.47-8T>C rs1596567778
NM_001042432.2(CLN3):c.591G>A (p.Leu197=) rs764082661
NM_001042432.2(CLN3):c.621C>G (p.Leu207=) rs1596561484
NM_001042432.2(CLN3):c.693C>T (p.Leu231=) rs376590377
NM_001042432.2(CLN3):c.69C>T (p.Pro23=) rs754235288
NM_001042432.2(CLN3):c.741C>T (p.Ser247=) rs148782327
NM_001042432.2(CLN3):c.744A>C (p.Ala248=) rs1446036630
NM_001042432.2(CLN3):c.759C>T (p.Leu253=) rs772274552
NM_001042432.2(CLN3):c.945C>T (p.His315=) rs747723206
NM_001077350.3(NPRL3):c.1086G>A (p.Pro362=) rs762516395
NM_001077350.3(NPRL3):c.1107C>T (p.Ser369=) rs572375358
NM_001077350.3(NPRL3):c.111C>T (p.Ser37=) rs1555446496
NM_001077350.3(NPRL3):c.1162-1G>C rs751418986
NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=) rs369473961
NM_001077350.3(NPRL3):c.1278C>T (p.Asp426=) rs74712570
NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=) rs373792025
NM_001077350.3(NPRL3):c.1419C>T (p.Ser473=) rs571533880
NM_001077350.3(NPRL3):c.1485C>T (p.Arg495=) rs767665276
NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr) rs202015937
NM_001077350.3(NPRL3):c.1593C>T (p.Tyr531=) rs200669192
NM_001077350.3(NPRL3):c.1625T>C (p.Met542Thr) rs185556688
NM_001077350.3(NPRL3):c.1677T>C (p.Pro559=) rs1216277325
NM_001077350.3(NPRL3):c.225C>G (p.Thr75=) rs372639365
NM_001077350.3(NPRL3):c.294A>T (p.Thr98=) rs370196395
NM_001077350.3(NPRL3):c.399C>T (p.Asn133=) rs748812702
NM_001077350.3(NPRL3):c.52A>C (p.Arg18=) rs1218964632
NM_001077350.3(NPRL3):c.696C>T (p.Pro232=) rs368272925
NM_001077350.3(NPRL3):c.714G>A (p.Ala238=) rs751260495
NM_001077350.3(NPRL3):c.735A>C (p.Pro245=) rs775687534
NM_001077350.3(NPRL3):c.756G>A (p.Leu252=) rs554325689
NM_001099403.2(PRDM8):c.1239C>T (p.Asp413=) rs955890394
NM_001099403.2(PRDM8):c.1314C>T (p.Ala438=) rs188061449
NM_001099403.2(PRDM8):c.1333C>T (p.Leu445=) rs951714195
NM_001099403.2(PRDM8):c.1350G>A (p.Glu450=) rs1578265647
NM_001099403.2(PRDM8):c.1647C>T (p.Leu549=) rs770130991
NM_001099403.2(PRDM8):c.1659G>C (p.Ala553=) rs961379038
NM_001099403.2(PRDM8):c.1674T>C (p.Gly558=) rs774459714
NM_001099403.2(PRDM8):c.1779_1796del (p.Ala594_Gly599del) rs574748973
NM_001099403.2(PRDM8):c.1812G>A (p.Gln604=) rs1553906523
NM_001099403.2(PRDM8):c.1956T>C (p.Tyr652=) rs374015672
NM_001099403.2(PRDM8):c.1968C>G (p.Pro656=) rs547453696
NM_001099403.2(PRDM8):c.276C>G (p.Val92=) rs373706543
NM_001099403.2(PRDM8):c.459C>A (p.Ser153=) rs374385368
NM_001099403.2(PRDM8):c.654G>A (p.Glu218=) rs1553905625
NM_001099403.2(PRDM8):c.858T>C (p.Gly286=) rs920460933
NM_001099403.2(PRDM8):c.985C>T (p.Leu329=) rs560049733
NM_001112741.1(KCNC1):c.1505-8G>A rs1353872876
NM_001112741.1(KCNC1):c.1518T>C (p.Asn506=) rs747283873
NM_001112741.1(KCNC1):c.1584C>G (p.Pro528=) rs1044982783
NM_001112741.1(KCNC1):c.1653C>T (p.Thr551=) rs368328020
NM_001112741.1(KCNC1):c.1662C>T (p.Tyr554=) rs578025939
NM_001112741.1(KCNC1):c.51G>A (p.Thr17=) rs1423569470
NM_001112741.1(KCNC1):c.594C>T (p.Phe198=) rs371344625
NM_001112741.1(KCNC1):c.636C>T (p.His212=) rs745968113
NM_001112741.1(KCNC1):c.677A>T (p.Asn226Ile) rs73424032
NM_001112741.1(KCNC1):c.683G>T (p.Arg228Leu) rs200873319
NM_001112741.1(KCNC1):c.831G>T (p.Ser277=) rs765494674
NM_001112741.1(KCNC1):c.96G>A (p.Thr32=) rs140637569
NM_001112741.2(KCNC1):c.102C>A (p.Leu34=) rs370742331
NM_001112741.2(KCNC1):c.1119C>T (p.Pro373=) rs143960025
NM_001112741.2(KCNC1):c.120C>G (p.Pro40=) rs1590088845
NM_001112741.2(KCNC1):c.1263G>A (p.Ala421=) rs915600389
NM_001112741.2(KCNC1):c.327C>T (p.Tyr109=) rs1590088932
NM_001112741.2(KCNC1):c.402G>A (p.Ala134=) rs1590089002
NM_001112741.2(KCNC1):c.912G>A (p.Lys304=) rs114815696
NM_001112741.2(KCNC1):c.915C>T (p.Asp305=) rs757117157
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met)
NM_001127644.2(GABRA1):c.1065G>A (p.Lys355=) rs1554087785
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val)
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=) rs74873701
NM_001127644.2(GABRA1):c.150A>G (p.Leu50=) rs1006797468
NM_001127644.2(GABRA1):c.216C>T (p.Ile72=) rs200716712
NM_001127644.2(GABRA1):c.231C>T (p.Phe77=) rs566224462
NM_001127644.2(GABRA1):c.237C>T (p.Pro79=) rs536603724
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269
NM_001127644.2(GABRA1):c.33T>C (p.Leu11=) rs766418049
NM_001127644.2(GABRA1):c.372G>A (p.Pro124=) rs1378731581
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862
NM_001127644.2(GABRA1):c.48C>T (p.Leu16=) rs1554083720
NM_001127644.2(GABRA1):c.531C>T (p.Ala177=) rs747452052
NM_001127644.2(GABRA1):c.576A>G (p.Ala192=) rs1319609279
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001127644.2(GABRA1):c.732C>T (p.Phe244=) rs1581215256
NM_001127644.2(GABRA1):c.756C>T (p.Tyr252=) rs775895535
NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=) rs779666888
NM_001127644.2(GABRA1):c.846A>G (p.Arg282=) rs139467768
NM_001127644.2(GABRA1):c.856+8C>T rs1554087151
NM_001127644.2(GABRA1):c.857-8C>T rs752572964
NM_001127644.2(GABRA1):c.873C>T (p.Leu291=) rs777911034
NM_001127644.2(GABRA1):c.950T>C (p.Ile317Thr)
NM_001134407.3(GRIN2A):c.1008-9C>G rs111844068
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met) rs78929970
NM_001134407.3(GRIN2A):c.1122+10C>T rs372687112
NM_001134407.3(GRIN2A):c.1155G>C (p.Leu385=) rs139119497
NM_001134407.3(GRIN2A):c.1191C>T (p.Ser397=) rs1231295919
NM_001134407.3(GRIN2A):c.1340A>T (p.Asn447Ile) rs367543145
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=) rs372058698
NM_001134407.3(GRIN2A):c.1458C>A (p.Gly486=) rs144572467
NM_001134407.3(GRIN2A):c.1498-8G>T rs1242162646
NM_001134407.3(GRIN2A):c.1533G>A (p.Ser511=) rs112848130
NM_001134407.3(GRIN2A):c.167G>T (p.Gly56Val)
NM_001134407.3(GRIN2A):c.179C>T (p.Ala60Val) rs758117698
NM_001134407.3(GRIN2A):c.1833G>A (p.Leu611=) rs745506751
NM_001134407.3(GRIN2A):c.1842T>C (p.Asn614=) rs138236719
NM_001134407.3(GRIN2A):c.2007+10C>T rs368110989
NM_001134407.3(GRIN2A):c.2145C>T (p.Asp715=) rs141471530
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met) rs376029542
NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=) rs367543138
NM_001134407.3(GRIN2A):c.2238G>A (p.Lys746=) rs1473479428
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=) rs148846694
NM_001134407.3(GRIN2A):c.2325C>T (p.Ile775=) rs748291723
NM_001134407.3(GRIN2A):c.2356+10C>T rs780647266
NM_001134407.3(GRIN2A):c.2505C>T (p.Phe835=) rs771342023
NM_001134407.3(GRIN2A):c.2547C>T (p.Phe849=) rs758351955
NM_001134407.3(GRIN2A):c.258G>A (p.Val86=) rs774606054
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_001134407.3(GRIN2A):c.2636A>G (p.Lys879Arg) rs183029507
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665
NM_001134407.3(GRIN2A):c.2805T>G (p.Val935=) rs762984731
NM_001134407.3(GRIN2A):c.280C>G (p.Arg94Gly)
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367
NM_001134407.3(GRIN2A):c.2877C>T (p.Asn959=) rs756576680
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.288C>T (p.His96=) rs74853460
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239
NM_001134407.3(GRIN2A):c.3003C>T (p.Ser1001=) rs199551487
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val)
NM_001134407.3(GRIN2A):c.3030C>T (p.Pro1010=) rs763891276
NM_001134407.3(GRIN2A):c.3039G>A (p.Leu1013=) rs577077724
NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=) rs200850130
NM_001134407.3(GRIN2A):c.3108G>A (p.Glu1036=) rs1555482675
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=) rs143039009
NM_001134407.3(GRIN2A):c.324C>T (p.Ala108=) rs762110435
NM_001134407.3(GRIN2A):c.3276C>G (p.Ser1092=) rs775325646
NM_001134407.3(GRIN2A):c.3366T>G (p.Gly1122=) rs1060504864
NM_001134407.3(GRIN2A):c.3400C>A (p.Gln1134Lys) rs748967552
NM_001134407.3(GRIN2A):c.3426C>T (p.Pro1142=) rs150487431
NM_001134407.3(GRIN2A):c.3468A>T (p.Glu1156Asp) rs778180100
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342
NM_001134407.3(GRIN2A):c.3597G>C (p.Pro1199=) rs368418052
NM_001134407.3(GRIN2A):c.3630C>T (p.Asn1210=) rs750892541
NM_001134407.3(GRIN2A):c.3817C>A (p.Gln1273Lys) rs762745084
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.3846C>T (p.Asn1282=) rs1596374956
NM_001134407.3(GRIN2A):c.3875A>G (p.Tyr1292Cys)
NM_001134407.3(GRIN2A):c.3953G>A (p.Arg1318Gln) rs149745535
NM_001134407.3(GRIN2A):c.397A>G (p.Met133Val)
NM_001134407.3(GRIN2A):c.4109C>G (p.Ser1370Cys)
NM_001134407.3(GRIN2A):c.4176A>G (p.Pro1392=) rs886043681
NM_001134407.3(GRIN2A):c.419C>T (p.Pro140Leu) rs142566406
NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=) rs367543126
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4230G>A (p.Ser1410=) rs762437402
NM_001134407.3(GRIN2A):c.4245C>A (p.Asp1415Glu) rs777328885
NM_001134407.3(GRIN2A):c.4247G>A (p.Ser1416Asn)
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001134407.3(GRIN2A):c.4350T>C (p.Asn1450=) rs761187900
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291
NM_001134407.3(GRIN2A):c.468G>A (p.Thr156=) rs773513210
NM_001134407.3(GRIN2A):c.522C>A (p.Thr174=) rs771962690
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134407.3(GRIN2A):c.60T>C (p.Gly20=) rs367543130
NM_001134407.3(GRIN2A):c.61C>G (p.Pro21Ala) rs1285592726
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile) rs367543124
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=) rs143594020
NM_001134407.3(GRIN2A):c.702C>T (p.Asp234=) rs150208429
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=) rs141912603
NM_001134407.3(GRIN2A):c.76G>T (p.Ala26Ser) rs751198815
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725
NM_001134407.3(GRIN2A):c.828C>G (p.Leu276=) rs752295285
NM_001134407.3(GRIN2A):c.837C>G (p.Val279=) rs55885632
NM_001134407.3(GRIN2A):c.83A>C (p.Glu28Ala) rs146839931
NM_001134407.3(GRIN2A):c.882C>T (p.Asp294=) rs201002710
NM_001134407.3(GRIN2A):c.883G>A (p.Gly295Ser) rs568484876
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=) rs146867324
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=) rs145172949
NM_001134407.3(GRIN2A):c.949A>C (p.Lys317Gln) rs141326581
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=) rs368200727
NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu) rs367543120
NM_001161352.2(KCNMA1):c.1086C>T (p.Thr362=) rs1564595933
NM_001161352.2(KCNMA1):c.117_119CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117_119CTC[6] (p.Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=) rs755284666
NM_001161352.2(KCNMA1):c.1224-8C>T rs777700626
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=) rs139515379
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) rs147378590
NM_001161352.2(KCNMA1):c.1413C>A (p.Leu471=) rs903717178
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) rs149647577
NM_001161352.2(KCNMA1):c.1653C>T (p.Leu551=) rs768361935
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=) rs76141718
NM_001161352.2(KCNMA1):c.1919G>A (p.Arg640Gln) rs80266334
NM_001161352.2(KCNMA1):c.2070A>T (p.Ile690=) rs368366851
NM_001161352.2(KCNMA1):c.207C>T (p.Leu69=) rs780686705
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=) rs544095112
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) rs748427000
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) rs142770262
NM_001161352.2(KCNMA1):c.2577C>T (p.Asn859=) rs770702438
NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg) rs200714367
NM_001161352.2(KCNMA1):c.2748C>T (p.Asn916=) rs766016095
NM_001161352.2(KCNMA1):c.2811G>A (p.Ser937=) rs199970585
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=) rs113441525
NM_001161352.2(KCNMA1):c.2847C>T (p.Asn949=) rs745890036
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) rs143599540
NM_001161352.2(KCNMA1):c.2994C>T (p.Asn998=) rs991345002
NM_001161352.2(KCNMA1):c.3017-5T>C rs202032522
NM_001161352.2(KCNMA1):c.3021C>T (p.Asn1007=) rs369363787
NM_001161352.2(KCNMA1):c.3030T>C (p.Asn1010=) rs1590247904
NM_001161352.2(KCNMA1):c.3072A>G (p.Thr1024=) rs774352020
NM_001161352.2(KCNMA1):c.3093C>G (p.Pro1031=) rs777115771
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=) rs2227913
NM_001161352.2(KCNMA1):c.3148-8T>C rs79155047
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=) rs779632278
NM_001161352.2(KCNMA1):c.3337T>C (p.Leu1113=) rs756169265
NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=) rs765051720
NM_001161352.2(KCNMA1):c.3480G>A (p.Pro1160=) rs202172473
NM_001161352.2(KCNMA1):c.348C>G (p.Thr116=) rs200178895
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=) rs201924445
NM_001161352.2(KCNMA1):c.363C>T (p.Cys121=) rs141758134
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757
NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln) rs75843969
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) rs61736948
NM_001161352.2(KCNMA1):c.603-5A>G rs907422214
NM_001161352.2(KCNMA1):c.697-4C>T rs200844223
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241
NM_001161352.2(KCNMA1):c.783T>C (p.Ser261=) rs145604644
NM_001161352.2(KCNMA1):c.884+8G>A rs777197385
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_001161352.2(KCNMA1):c.993C>T (p.Phe331=) rs1596161285
NM_001242896.3(DEPDC5):c.1278A>G (p.Ala426=) rs376799291
NM_001242896.3(DEPDC5):c.1329C>T (p.Leu443=) rs758352057
NM_001242896.3(DEPDC5):c.1449T>C (p.Ser483=) rs1461464062
NM_001242896.3(DEPDC5):c.180A>G (p.Glu60=) rs550525739
NM_001242896.3(DEPDC5):c.2271C>T (p.Thr757=) rs373009424
NM_001242896.3(DEPDC5):c.2412C>T (p.Cys804=) rs201290710
NM_001242896.3(DEPDC5):c.258T>C (p.Tyr86=) rs201609075
NM_001242896.3(DEPDC5):c.2730C>T (p.His910=) rs140039884
NM_001242896.3(DEPDC5):c.2904C>T (p.Ile968=) rs200175960
NM_001242896.3(DEPDC5):c.2934C>T (p.Asp978=) rs559006082
NM_001242896.3(DEPDC5):c.2997G>T (p.Arg999=) rs372078779
NM_001242896.3(DEPDC5):c.3069G>A (p.Thr1023=) rs201368629
NM_001242896.3(DEPDC5):c.3606G>A (p.Pro1202=) rs749703301
NM_001242896.3(DEPDC5):c.45C>T (p.Gly15=) rs373199155
NM_001242896.3(DEPDC5):c.4632C>T (p.Val1544=) rs374597058
NM_001242896.3(DEPDC5):c.4689A>G (p.Thr1563=) rs368010039
NM_001242896.3(DEPDC5):c.748T>G (p.Phe250Val) rs201429774
NM_001242897.2(DEPDC5):c.1014C>T (p.Pro338=) rs774034064
NM_001242897.2(DEPDC5):c.1245T>C (p.Phe415=) rs1555880783
NM_001242897.2(DEPDC5):c.1290C>T (p.Pro430=) rs201202102
NM_001242897.2(DEPDC5):c.1321A>G (p.Thr441Ala) rs199749859
NM_001242897.2(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709
NM_001242897.2(DEPDC5):c.1380C>T (p.Asp460=) rs375451146
NM_001242897.2(DEPDC5):c.146+5G>A rs748264035
NM_001242897.2(DEPDC5):c.1509C>T (p.Ser503=) rs376217381
NM_001242897.2(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639
NM_001242897.2(DEPDC5):c.1758T>C (p.Val586=) rs766732676
NM_001242897.2(DEPDC5):c.1803C>T (p.Phe601=) rs368563183
NM_001242897.2(DEPDC5):c.1870+3480C>G rs372975881
NM_001242897.2(DEPDC5):c.1870+3495C>T rs779428450
NM_001242897.2(DEPDC5):c.1937-10C>T rs746913609
NM_001242897.2(DEPDC5):c.2019G>A (p.Ala673=) rs777616535
NM_001242897.2(DEPDC5):c.204T>C (p.Ser68=) rs774206363
NM_001242897.2(DEPDC5):c.2133T>C (p.Asp711=) rs751377415
NM_001242897.2(DEPDC5):c.2273A>G (p.Tyr758Cys) rs773004067
NM_001242897.2(DEPDC5):c.2281+10T>C rs1276307484
NM_001242897.2(DEPDC5):c.2343G>A (p.Thr781=) rs375938114
NM_001242897.2(DEPDC5):c.2358G>A (p.Thr786=) rs763764167
NM_001242897.2(DEPDC5):c.252T>C (p.Asp84=) rs183443533
NM_001242897.2(DEPDC5):c.2550C>T (p.Ala850=) rs201146392
NM_001242897.2(DEPDC5):c.2628C>T (p.Thr876=) rs1027803497
NM_001242897.2(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084
NM_001242897.2(DEPDC5):c.2772G>A (p.Ser924=) rs373751704
NM_001242897.2(DEPDC5):c.2820T>C (p.Thr940=) rs372062387
NM_001242897.2(DEPDC5):c.2823G>A (p.Gly941=) rs1060504242
NM_001242897.2(DEPDC5):c.2862A>G (p.Pro954=) rs756207564
NM_001242897.2(DEPDC5):c.2889C>T (p.Leu963=) rs1555901654
NM_001242897.2(DEPDC5):c.2921A>G (p.Lys974Arg) rs200277794
NM_001242897.2(DEPDC5):c.2943A>G (p.Ala981=) rs776608344
NM_001242897.2(DEPDC5):c.2967C>T (p.Ser989=) rs775749832
NM_001242897.2(DEPDC5):c.2991C>T (p.Ser997=) rs757534228
NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) rs142540948
NM_001242897.2(DEPDC5):c.3030+3812C>T rs371377906
NM_001242897.2(DEPDC5):c.3030+3862G>A rs759169213
NM_001242897.2(DEPDC5):c.3030+3865C>T rs371969641
NM_001242897.2(DEPDC5):c.3031-10del rs377356885
NM_001242897.2(DEPDC5):c.3066C>T (p.Asp1022=) rs375702574
NM_001242897.2(DEPDC5):c.3396+10C>A rs755463750
NM_001242897.2(DEPDC5):c.3498C>T (p.Pro1166=) rs376187025
NM_001242897.2(DEPDC5):c.3505+10G>A rs201608608
NM_001242897.2(DEPDC5):c.3506-8T>C rs1555919097
NM_001242897.2(DEPDC5):c.3537C>T (p.His1179=) rs370472498
NM_001242897.2(DEPDC5):c.3546A>G (p.Gly1182=) rs771875089
NM_001242897.2(DEPDC5):c.3558C>T (p.Phe1186=) rs192246855
NM_001242897.2(DEPDC5):c.363+6_363+7del rs748242785
NM_001242897.2(DEPDC5):c.3648G>A (p.Leu1216=) rs371864100
NM_001242897.2(DEPDC5):c.3777C>T (p.Asp1259=) rs573674033
NM_001242897.2(DEPDC5):c.4086C>T (p.Pro1362=) rs754105028
NM_001242897.2(DEPDC5):c.4092G>A (p.Thr1364=) rs756506370
NM_001242897.2(DEPDC5):c.4137G>A (p.Arg1379=) rs1057522689
NM_001242897.2(DEPDC5):c.4242C>T (p.Pro1414=) rs368918488
NM_001242897.2(DEPDC5):c.4347C>G (p.Ala1449=) rs1555943168
NM_001242897.2(DEPDC5):c.4383C>T (p.Ser1461=) rs370189053
NM_001242897.2(DEPDC5):c.4500C>T (p.Ala1500=) rs754017226
NM_001242897.2(DEPDC5):c.4509G>A (p.Pro1503=) rs201307299
NM_001242897.2(DEPDC5):c.453C>T (p.Val151=) rs558913954
NM_001242897.2(DEPDC5):c.633C>T (p.Asn211=) rs771270766
NM_001242897.2(DEPDC5):c.711A>C (p.Ile237=) rs368571578
NM_001242897.2(DEPDC5):c.71T>G (p.Val24Gly) rs572660873
NM_001242897.2(DEPDC5):c.813C>T (p.Leu271=) rs200547310
NM_001242897.2(DEPDC5):c.871+9T>C rs373471598
NM_001242897.2(DEPDC5):c.879T>C (p.Phe293=) rs1335286901
NM_001242897.2(DEPDC5):c.946+10G>C rs367917127
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=) rs772735057
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=) rs376258320
NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=) rs755236045
NM_001371596.2(MFSD8):c.1095G>A (p.Gln365=) rs1578795529
NM_001371596.2(MFSD8):c.219A>G (p.Thr73=) rs143654391
NM_001371596.2(MFSD8):c.439+9G>T rs1339979382
NM_001371596.2(MFSD8):c.493A>C (p.Arg165=) rs761767969
NM_001371596.2(MFSD8):c.658C>T (p.Leu220=) rs142063476
NM_001371596.2(MFSD8):c.755-6C>T rs752118814
NM_001371596.2(MFSD8):c.846C>A (p.Ile282=) rs776272077
NM_001371596.2(MFSD8):c.897C>T (p.Ala299=) rs747352043
NM_001492.6(GDF1):c.-1017C>T rs779359438
NM_001492.6(GDF1):c.-1065G>A rs1038592004
NM_001492.6(GDF1):c.-1149C>G rs992534143
NM_001492.6(GDF1):c.-1257A>G rs1185015299
NM_001492.6(GDF1):c.-1307C>A rs1041161328
NM_001492.6(GDF1):c.-411G>A rs369177504
NM_001492.6(GDF1):c.-417C>T rs377364343
NM_001492.6(GDF1):c.-425C>T rs373928623
NM_001492.6(GDF1):c.-489C>T rs781327266
NM_001492.6(GDF1):c.-660C>T rs535134210
NM_001492.6(GDF1):c.-733+9A>G rs200695801
NM_001492.6(GDF1):c.-741C>T rs779941388
NM_001492.6(GDF1):c.-846T>C rs1426719277
NM_001492.6(GDF1):c.-906G>A rs372257242
NM_001492.6(GDF1):c.-913-10C>T rs377152682
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1071+7G>A rs374010531
NM_001909.5(CTSD):c.1101G>A (p.Leu367=) rs777289049
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) rs145821780
NM_001909.5(CTSD):c.1128G>A (p.Pro376=) rs929763593
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.5(CTSD):c.1221C>T (p.Ala407=) rs1439111867
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) rs772742148
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230
NM_001909.5(CTSD):c.174G>A (p.Ala58=) rs565191387
NM_001909.5(CTSD):c.216G>A (p.Lys72=) rs764982673
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.5(CTSD):c.261G>A (p.Thr87=) rs372181453
NM_001909.5(CTSD):c.306C>T (p.Asn102=) rs1258957118
NM_001909.5(CTSD):c.345C>T (p.Ile115=) rs200875086
NM_001909.5(CTSD):c.353-8C>T rs760934292
NM_001909.5(CTSD):c.393C>T (p.Tyr131=) rs776128996
NM_001909.5(CTSD):c.408C>G (p.Thr136=) rs1060504644
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.5(CTSD):c.447G>A (p.Gly149=) rs752032660
NM_001909.5(CTSD):c.534C>G (p.Val178=) rs758852382
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504
NM_001909.5(CTSD):c.636G>T (p.Leu212=) rs567625495
NM_001909.5(CTSD):c.6G>A (p.Gln2=) rs1328097097
NM_001909.5(CTSD):c.75G>A (p.Pro25=) rs140563067
NM_001909.5(CTSD):c.816C>A (p.Val272=) rs1554962441
NM_001909.5(CTSD):c.828-4G>A rs371034011
NM_001909.5(CTSD):c.882G>A (p.Val294=) rs778999077
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.5(CTSD):c.933G>A (p.Leu311=) rs1428157464
NM_001909.5(CTSD):c.945C>T (p.Ile315=) rs752172496
NM_001909.5(CTSD):c.957G>A (p.Pro319=) rs369229897
NM_001909.5(CTSD):c.972+7G>A rs371747998
NM_001909.5(CTSD):c.972+9C>T rs746243061
NM_001909.5(CTSD):c.993G>A (p.Lys331=) rs1181418072
NM_002087.3(GRN):c.1298G>A (p.Arg433Gln) rs114248177
NM_002087.3(GRN):c.393C>G (p.Phe131Leu) rs149180605
NM_002087.3(GRN):c.513C>T (p.Cys171=) rs147974849
NM_002087.3(GRN):c.723C>T (p.Ser241=) rs200408271
NM_002087.3(GRN):c.933+7A>T rs1598364800
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142
NM_003793.4(CTSF):c.597G>A (p.Glu199=) rs200932066
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356
NM_004287.4(GOSR2):c.29+8C>T rs573306680
NM_004287.4(GOSR2):c.29+9C>T rs951923133
NM_004287.4(GOSR2):c.336+9G>A rs200210055
NM_004287.5(GOSR2):c.405C>T (p.Asn135=) rs753166413
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.5(GOSR2):c.99A>G (p.Val33=) rs1555709339
NM_005025.4(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306
NM_005025.4(SERPINI1):c.1183A>G (p.Met395Val) rs144637103
NM_005025.4(SERPINI1):c.208A>G (p.Lys70Glu) rs11547811
NM_005025.4(SERPINI1):c.217C>T (p.Arg73Cys) rs369596299
NM_005025.4(SERPINI1):c.340G>A (p.Val114Met) rs61735308
NM_005025.4(SERPINI1):c.404C>T (p.Ala135Val) rs746127233
NM_005025.4(SERPINI1):c.414T>C (p.His138=) rs758630825
NM_005025.4(SERPINI1):c.552C>A (p.Val184=) rs1577420587
NM_005025.4(SERPINI1):c.573G>A (p.Lys191=) rs1553774750
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726
NM_005045.4(RELN):c.10020G>A (p.Ser3340=) rs760919496
NM_005045.4(RELN):c.10108A>G (p.Thr3370Ala) rs570807790
NM_005045.4(RELN):c.10275C>T (p.Val3425=) rs750834800
NM_005045.4(RELN):c.10276G>A (p.Val3426Ile) rs188371196
NM_005045.4(RELN):c.1035A>G (p.Leu345=) rs113998363
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366
NM_005045.4(RELN):c.1344C>G (p.Gly448=) rs144150588
NM_005045.4(RELN):c.1386C>T (p.Cys462=) rs139321058
NM_005045.4(RELN):c.1416G>A (p.Gly472=) rs1156543517
NM_005045.4(RELN):c.1555G>T (p.Val519Phe) rs560704715
NM_005045.4(RELN):c.1746G>T (p.Thr582=) rs138532222
NM_005045.4(RELN):c.2016G>A (p.Pro672=) rs146749232
NM_005045.4(RELN):c.227-7A>G rs753968613
NM_005045.4(RELN):c.2304-6G>T rs377074345
NM_005045.4(RELN):c.2352G>A (p.Thr784=) rs148510862
NM_005045.4(RELN):c.2376T>C (p.Gly792=) rs398124191
NM_005045.4(RELN):c.2532G>A (p.Pro844=) rs113842330
NM_005045.4(RELN):c.2637C>T (p.Val879=) rs544717229
NM_005045.4(RELN):c.2754A>G (p.Gln918=) rs114620008
NM_005045.4(RELN):c.2827C>T (p.His943Tyr) rs190615928
NM_005045.4(RELN):c.3009-10G>A rs140358876
NM_005045.4(RELN):c.3147-4A>G rs375230548
NM_005045.4(RELN):c.3198G>A (p.Pro1066=) rs767180170
NM_005045.4(RELN):c.3282A>G (p.Pro1094=) rs1281926093
NM_005045.4(RELN):c.3333+8C>T rs1482310315
NM_005045.4(RELN):c.3351G>C (p.Leu1117=) rs1584329052
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.4(RELN):c.3483G>A (p.Gly1161=) rs1254504314
NM_005045.4(RELN):c.3642C>T (p.Val1214=) rs151252449
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.4(RELN):c.3663C>T (p.Ser1221=) rs199705497
NM_005045.4(RELN):c.3786A>G (p.Gly1262=) rs577453361
NM_005045.4(RELN):c.37C>T (p.Leu13=) rs775635007
NM_005045.4(RELN):c.3891T>A (p.Pro1297=) rs145600583
NM_005045.4(RELN):c.3913-10C>T rs759409873
NM_005045.4(RELN):c.3913-9T>C rs372473867
NM_005045.4(RELN):c.3913-9dup rs781655960
NM_005045.4(RELN):c.408G>C (p.Leu136=) rs1554427416
NM_005045.4(RELN):c.4191C>T (p.Asn1397=) rs544646610
NM_005045.4(RELN):c.4230G>A (p.Glu1410=) rs184601053
NM_005045.4(RELN):c.4275A>G (p.Gly1425=) rs141617635
NM_005045.4(RELN):c.4320T>C (p.Cys1440=) rs1584308763
NM_005045.4(RELN):c.4434C>G (p.Asn1478Lys) rs375118721
NM_005045.4(RELN):c.4497C>T (p.Asp1499=) rs374062563
NM_005045.4(RELN):c.4512-5C>T rs776406996
NM_005045.4(RELN):c.4689C>T (p.Asp1563=) rs138694965
NM_005045.4(RELN):c.4701C>T (p.Asp1567=) rs755634872
NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr) rs78480723
NM_005045.4(RELN):c.474-7T>C rs55693709
NM_005045.4(RELN):c.4872A>G (p.Gln1624=) rs149121159
NM_005045.4(RELN):c.4937-9_4937-8insG rs1584300778
NM_005045.4(RELN):c.5013C>A (p.Gly1671=) rs758902738
NM_005045.4(RELN):c.5016T>C (p.Cys1672=) rs983510937
NM_005045.4(RELN):c.5136G>A (p.Thr1712=) rs147933593
NM_005045.4(RELN):c.5145A>G (p.Ser1715=) rs113229231
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800
NM_005045.4(RELN):c.5220G>A (p.Arg1740=) rs774453752
NM_005045.4(RELN):c.5274G>T (p.Ala1758=) rs139102992
NM_005045.4(RELN):c.5352-9C>G rs758405612
NM_005045.4(RELN):c.5406G>A (p.Ser1802=) rs780846874
NM_005045.4(RELN):c.5529+10A>T rs371510474
NM_005045.4(RELN):c.5599A>C (p.Arg1867=) rs753376558
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255
NM_005045.4(RELN):c.5730T>C (p.Asn1910=) rs761717557
NM_005045.4(RELN):c.577+9T>C rs750186579
NM_005045.4(RELN):c.5796C>T (p.Asn1932=) rs200299096
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343
NM_005045.4(RELN):c.5934C>T (p.Ile1978=) rs141509094
NM_005045.4(RELN):c.5970-7G>A rs755935071
NM_005045.4(RELN):c.6072+7G>T rs777197865
NM_005045.4(RELN):c.6117G>A (p.Val2039=) rs987328360
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241
NM_005045.4(RELN):c.6147G>A (p.Ala2049=) rs116750302
NM_005045.4(RELN):c.6213C>T (p.Thr2071=) rs554215103
NM_005045.4(RELN):c.6240C>T (p.Tyr2080=) rs201505136
NM_005045.4(RELN):c.6303-9C>T rs200658237
NM_005045.4(RELN):c.6429C>T (p.Ile2143=) rs1554374836
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu) rs114686696
NM_005045.4(RELN):c.6624T>C (p.Asp2208=) rs775403428
NM_005045.4(RELN):c.6672-10C>A rs372225140
NM_005045.4(RELN):c.6759C>T (p.Asn2253=) rs548135273
NM_005045.4(RELN):c.6771G>A (p.Ser2257=) rs367867782
NM_005045.4(RELN):c.6939T>C (p.Ile2313=) rs113498433
NM_005045.4(RELN):c.6962C>T (p.Thr2321Met) rs116065504
NM_005045.4(RELN):c.7107C>T (p.Asp2369=) rs114339919
NM_005045.4(RELN):c.7128C>G (p.Ser2376=) rs116057819
NM_005045.4(RELN):c.7180+8T>C rs1022021889
NM_005045.4(RELN):c.7197C>T (p.Tyr2399=) rs368769147
NM_005045.4(RELN):c.7287C>A (p.Ile2429=) rs915583909
NM_005045.4(RELN):c.7635C>T (p.Ala2545=) rs114894883
NM_005045.4(RELN):c.7641G>A (p.Ala2547=) rs749089939
NM_005045.4(RELN):c.7644G>A (p.Ser2548=) rs150743664
NM_005045.4(RELN):c.7713T>C (p.Asn2571=) rs1359170573
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847
NM_005045.4(RELN):c.7938C>T (p.Asp2646=) rs748558740
NM_005045.4(RELN):c.8004C>T (p.Thr2668=) rs368087558
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673
NM_005045.4(RELN):c.8028C>T (p.Ser2676=) rs777057396
NM_005045.4(RELN):c.807G>T (p.Gly269=) rs374420536
NM_005045.4(RELN):c.8445G>A (p.Gly2815=) rs1156230944
NM_005045.4(RELN):c.8490-4A>G rs759954678
NM_005045.4(RELN):c.8625G>A (p.Pro2875=) rs190273964
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289
NM_005045.4(RELN):c.8843+3A>C rs200124755
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042
NM_005045.4(RELN):c.8950+9C>T rs1378125232
NM_005045.4(RELN):c.8951-11_8951-8dup rs1554364085
NM_005045.4(RELN):c.9105G>A (p.Gly3035=) rs1279644782
NM_005045.4(RELN):c.9172T>C (p.Leu3058=) rs2286261
NM_005045.4(RELN):c.9222T>C (p.Ser3074=) rs771439100
NM_005045.4(RELN):c.9370-7G>C rs1584226513
NM_005045.4(RELN):c.9414C>T (p.Ser3138=) rs375427974
NM_005045.4(RELN):c.9633G>A (p.Lys3211=) rs114211457
NM_005045.4(RELN):c.9726G>C (p.Thr3242=) rs370000503
NM_005045.4(RELN):c.9729C>T (p.Thr3243=) rs145542111
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137
NM_005045.4(RELN):c.9975T>G (p.Thr3325=) rs1586472688
NM_005045.4(RELN):c.9984-9G>A rs758320422
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961
NM_005076.5(CNTN2):c.1125G>A (p.Val375=) rs758300776
NM_005076.5(CNTN2):c.1224C>T (p.Ala408=) rs374199117
NM_005076.5(CNTN2):c.1241-3T>C rs200577280
NM_005076.5(CNTN2):c.1344C>T (p.Ala448=) rs778178054
NM_005076.5(CNTN2):c.1392-6C>T rs749779814
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556
NM_005076.5(CNTN2):c.1507C>T (p.Leu503=) rs766723952
NM_005076.5(CNTN2):c.1519+10G>A rs193063011
NM_005076.5(CNTN2):c.1602C>T (p.His534=) rs760905192
NM_005076.5(CNTN2):c.1653C>T (p.Ile551=) rs147493920
NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu) rs145352110
NM_005076.5(CNTN2):c.1734G>A (p.Gln578=) rs200403480
NM_005076.5(CNTN2):c.1860C>T (p.Gly620=) rs149350213
NM_005076.5(CNTN2):c.186C>T (p.Arg62=) rs762058787
NM_005076.5(CNTN2):c.1914C>T (p.Ile638=) rs1193381104
NM_005076.5(CNTN2):c.2130C>T (p.Pro710=) rs1009461344
NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg) rs144056952
NM_005076.5(CNTN2):c.2163T>C (p.Gly721=) rs756031843
NM_005076.5(CNTN2):c.2340C>G (p.Pro780=) rs975647789
NM_005076.5(CNTN2):c.2514G>A (p.Gln838=) rs144293383
NM_005076.5(CNTN2):c.2545-9C>T rs766586200
NM_005076.5(CNTN2):c.2985T>C (p.Pro995=) rs138239566
NM_005076.5(CNTN2):c.3069C>T (p.Thr1023=) rs756612071
NM_005076.5(CNTN2):c.318C>T (p.Ala106=) rs372422500
NM_005076.5(CNTN2):c.423C>T (p.Asp141=) rs774281069
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe) rs142502980
NM_005076.5(CNTN2):c.513C>T (p.Asn171=) rs371187600
NM_005076.5(CNTN2):c.537G>C (p.Thr179=) rs143379833
NM_005076.5(CNTN2):c.552C>T (p.Phe184=) rs777614226
NM_005076.5(CNTN2):c.609C>T (p.Gly203=) rs762080946
NM_005076.5(CNTN2):c.765G>A (p.Gln255=) rs1318994065
NM_005076.5(CNTN2):c.846G>A (p.Pro282=) rs180849149
NM_005097.4(LGI1):c.1026C>G (p.Asn342Lys) rs1554907730
NM_005097.4(LGI1):c.1095C>T (p.Asn365=) rs934556455
NM_005097.4(LGI1):c.1155A>C (p.Leu385=) rs202148793
NM_005097.4(LGI1):c.1392G>A (p.Ser464=) rs148804268
NM_005097.4(LGI1):c.1471A>G (p.Ile491Val) rs756891254
NM_005097.4(LGI1):c.1668C>T (p.Ser556=) rs763654125
NM_005097.4(LGI1):c.276G>A (p.Ser92=) rs377278767
NM_005097.4(LGI1):c.300G>A (p.Ser100=) rs1194691936
NM_005097.4(LGI1):c.303C>T (p.Asn101=) rs762343857
NM_005097.4(LGI1):c.618C>T (p.Tyr206=) rs1554907108
NM_005097.4(LGI1):c.648G>A (p.Ser216=) rs779577088
NM_005097.4(LGI1):c.657= (p.Phe219=) rs1111820
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212
NM_005097.4(LGI1):c.738T>A (p.Asn246Lys) rs781404129
NM_005097.4(LGI1):c.744G>A (p.Glu248=) rs199916185
NM_005097.4(LGI1):c.756C>T (p.Ile252=) rs368264015
NM_005097.4(LGI1):c.812C>T (p.Thr271Ile) rs140752487
NM_005097.4(LGI1):c.838+10G>A rs756267808
NM_005506.4(SCARB2):c.1089T>C (p.His363=) rs753197792
NM_005506.4(SCARB2):c.1188-5T>C rs775387526
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) rs117157204
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=) rs144878666
NM_005506.4(SCARB2):c.228C>G (p.Leu76=) rs35069772
NM_005506.4(SCARB2):c.228C>T (p.Leu76=) rs35069772
NM_005506.4(SCARB2):c.276-7C>G rs200507087
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.4(SCARB2):c.402A>G (p.Arg134=) rs778684185
NM_005506.4(SCARB2):c.424-4G>A rs368869126
NM_005506.4(SCARB2):c.424-5C>T rs192876326
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) rs773017713
NM_005506.4(SCARB2):c.690A>G (p.Glu230=) rs957776724
NM_005506.4(SCARB2):c.915G>A (p.Thr305=) rs762138695
NM_005506.4(SCARB2):c.93G>A (p.Lys31=) rs558215488
NM_005670.4(EPM2A):c.105C>G (p.Arg35=) rs1583156996
NM_005670.4(EPM2A):c.108T>G (p.Gly36=) rs1583156988
NM_005670.4(EPM2A):c.118C>T (p.Leu40=) rs1583156932
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183
NM_005670.4(EPM2A):c.171G>T (p.Pro57=) rs531330673
NM_005670.4(EPM2A):c.201G>A (p.Ala67=) rs1583156346
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649
NM_005670.4(EPM2A):c.476+7A>G rs756197281
NM_005670.4(EPM2A):c.564T>G (p.Ala188=) rs1342189516
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) rs571938170
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) rs61758156
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005670.4(EPM2A):c.726A>G (p.Val242=) rs1485448690
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.918C>T (p.Asp306=) rs375436219
NM_005670.4(EPM2A):c.936G>A (p.Arg312=) rs773315475
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.2(CLN5):c.54A>G (p.Gln18=) rs767480061
NM_006493.4(CLN5):c.114T>C (p.Val38=) rs1453178211
NM_006493.4(CLN5):c.21G>T (p.Thr7=) rs1057521258
NM_006493.4(CLN5):c.27G>A (p.Gln9=) rs373102871
NM_006493.4(CLN5):c.435A>G (p.Thr145=) rs1031492461
NM_006493.4(CLN5):c.465C>T (p.Ala155=) rs1480870613
NM_006493.4(CLN5):c.534T>C (p.Asn178=) rs1368956736
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.615A>G (p.Thr205=) rs769662577
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223
NM_006493.4(CLN5):c.93G>A (p.Ala31=) rs971404954
NM_015973.5(GAL):c.106C>T (p.Leu36=) rs528520052
NM_015973.5(GAL):c.142G>A (p.Val48Ile) rs541536020
NM_015973.5(GAL):c.177C>G (p.Gly59=) rs533111349
NM_015973.5(GAL):c.253A>G (p.Asn85Asp) rs145825008
NM_015973.5(GAL):c.306C>T (p.Ala102=) rs147122838
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.13C>A (p.Arg5=) rs886285802
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.3(CLN6):c.199-5C>T rs371705916
NM_017882.3(CLN6):c.204A>G (p.Val68=) rs774960579
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951
NM_017882.3(CLN6):c.279G>A (p.Thr93=) rs746613593
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.3(CLN6):c.396T>C (p.Ser132=) rs949403836
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678
NM_017882.3(CLN6):c.489C>T (p.Ile163=) rs748682605
NM_017882.3(CLN6):c.543-9C>T rs374653673
NM_017882.3(CLN6):c.564C>A (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.567C>T (p.Leu189=) rs762214934
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816
NM_017882.3(CLN6):c.717C>T (p.Phe239=) rs745850620
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056
NM_017882.3(CLN6):c.801A>G (p.Ala267=) rs901756486
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266
NM_017882.3(CLN6):c.84-8C>T rs756782429
NM_017882.3(CLN6):c.858C>T (p.Leu286=) rs1043430340
NM_017882.3(CLN6):c.885C>T (p.Tyr295=) rs374990526
NM_017882.3(CLN6):c.912C>T (p.Thr304=) rs201330867
NM_017882.3(CLN6):c.924C>T (p.Ser308=) rs774237925
NM_017882.3(CLN6):c.93T>C (p.Ser31=) rs376510900
NM_017882.3(CLN6):c.99C>T (p.Ser33=) rs752449801
NM_018100.4(EFHC1):c.1047A>G (p.Pro349=) rs1163603161
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=) rs200024100
NM_018100.4(EFHC1):c.1279-9C>T rs143254681
NM_018100.4(EFHC1):c.1293A>C (p.Pro431=) rs1554261597
NM_018100.4(EFHC1):c.1338C>T (p.Thr446=) rs546464826
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645
NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg) rs200328198
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=) rs774640110
NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu)
NM_018100.4(EFHC1):c.1641-8C>A rs1222704866
NM_018100.4(EFHC1):c.1665C>T (p.Gly555=) rs369201702
NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala)
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882
NM_018100.4(EFHC1):c.1815G>A (p.Ser605=) rs1045298708
NM_018100.4(EFHC1):c.1836C>T (p.Asp612=) rs137869409
NM_018100.4(EFHC1):c.1851+8T>A
NM_018100.4(EFHC1):c.1852-6C>G rs372507832
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) rs142458862
NM_018100.4(EFHC1):c.1866C>T (p.Cys622=) rs1554262324
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg) rs200510672
NM_018100.4(EFHC1):c.249G>A (p.Ala83=) rs149627167
NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys) rs200375854
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) rs200191497
NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn) rs146467751
NM_018100.4(EFHC1):c.681A>G (p.Ser227=) rs772096798
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys)
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) rs374402088
NM_018941.3(CLN8):c.11C>T (p.Ala4Val) rs147181589
NM_018941.3(CLN8):c.15C>T (p.Ser5=) rs374597781
NM_018941.3(CLN8):c.207G>A (p.Thr69=) rs368365607
NM_018941.3(CLN8):c.246G>A (p.Leu82=) rs144015378
NM_018941.3(CLN8):c.256C>T (p.Leu86=) rs755248868
NM_018941.3(CLN8):c.279C>T (p.Ala93=) rs372313992
NM_018941.3(CLN8):c.290G>A (p.Arg97His) rs116605307
NM_018941.3(CLN8):c.324G>A (p.Thr108=) rs148124161
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018941.3(CLN8):c.408T>A (p.Val136=) rs535963507
NM_018941.3(CLN8):c.495C>T (p.Leu165=) rs772106347
NM_018941.3(CLN8):c.510G>A (p.Thr170=) rs759153401
NM_018941.3(CLN8):c.513C>G (p.Pro171=) rs376910635
NM_018941.3(CLN8):c.522C>T (p.Cys174=) rs148417620
NM_018941.3(CLN8):c.546G>A (p.Ala182=) rs144047076
NM_018941.3(CLN8):c.630C>T (p.His210=) rs1554451522
NM_018941.3(CLN8):c.666G>A (p.Leu222=) rs532934034
NM_018941.3(CLN8):c.708C>T (p.Val236=) rs200760828
NM_018941.3(CLN8):c.725C>T (p.Thr242Met) rs138821993
NM_018941.3(CLN8):c.726G>A (p.Thr242=) rs200529220
NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) rs146579299
NM_018941.3(CLN8):c.780G>A (p.Pro260=) rs761984333
NM_018941.3(CLN8):c.831C>T (p.Asn277=) rs200083273
NM_018941.3(CLN8):c.843G>A (p.Leu281=) rs367703234
NM_018941.4(CLN8):c.114C>G (p.Val38=) rs1585137545
NM_018941.4(CLN8):c.21G>A (p.Gly7=) rs751762914
NM_018941.4(CLN8):c.234A>G (p.Thr78=) rs1450867136
NM_018941.4(CLN8):c.288G>A (p.Ala96=) rs533351136
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002
NM_018941.4(CLN8):c.333G>A (p.Thr111=) rs377273687
NM_018941.4(CLN8):c.363C>A (p.Val121=) rs568852954
NM_018941.4(CLN8):c.489G>A (p.Thr163=) rs1585138564
NM_018941.4(CLN8):c.75C>T (p.Ser25=) rs1276904511
NM_018941.4(CLN8):c.858A>G (p.Pro286=) rs764673534
NM_020361.5(CPA6):c.12C>T (p.Leu4=) rs754451669
NM_020361.5(CPA6):c.505T>C (p.Tyr169His) rs201643526
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.759G>A (p.Trp253Ter) rs139178030
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020361.5(CPA6):c.861T>C (p.Pro287=) rs1186379773
NM_020361.5(CPA6):c.903G>A (p.Pro301=) rs138279913
NM_020361.5(CPA6):c.916G>A (p.Val306Ile) rs147046973
NM_020361.5(CPA6):c.932G>A (p.Arg311Gln) rs143321447
NM_020361.5(CPA6):c.957T>G (p.Ala319=) rs553327896
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=) rs767434859
NM_020822.3(KCNT1):c.1047C>T (p.Leu349=) rs370414453
NM_020822.3(KCNT1):c.1053C>T (p.Tyr351=) rs973806258
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553
NM_020822.3(KCNT1):c.111-8G>A rs779128853
NM_020822.3(KCNT1):c.1119C>T (p.His373=) rs1052932341
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551
NM_020822.3(KCNT1):c.1209C>T (p.Tyr403=) rs374653926
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353
NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr)
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys) rs773228285
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) rs1554773537
NM_020822.3(KCNT1):c.1337+7G>A rs374975940
NM_020822.3(KCNT1):c.1365C>T (p.Ile455=) rs1305510057
NM_020822.3(KCNT1):c.1380C>T (p.Asn460=) rs566700584
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=) rs777870376
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=) rs375534850
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=) rs576446992
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341
NM_020822.3(KCNT1):c.1511-4G>A rs368480443
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) rs371913299
NM_020822.3(KCNT1):c.1575G>A (p.Ala525=) rs566045604
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) rs138352399
NM_020822.3(KCNT1):c.1653C>T (p.Arg551=)
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val) rs781375160
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=) rs763438119
NM_020822.3(KCNT1):c.1769+8C>A rs371287985
NM_020822.3(KCNT1):c.1769+8C>T rs371287985
NM_020822.3(KCNT1):c.1769+9G>A rs758402819
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=) rs373444768
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln) rs773621687
NM_020822.3(KCNT1):c.1803G>A (p.Glu601=) rs376892911
NM_020822.3(KCNT1):c.1806C>T (p.Asp602=) rs1060505001
NM_020822.3(KCNT1):c.1824G>A (p.Leu608=) rs764141661
NM_020822.3(KCNT1):c.1851C>T (p.Ala617=) rs1275903338
NM_020822.3(KCNT1):c.1881C>T (p.Ile627=) rs1554775088
NM_020822.3(KCNT1):c.1890G>A (p.Glu630=) rs1326023054
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093
NM_020822.3(KCNT1):c.1946C>T (p.Ser649Leu) rs747671066
NM_020822.3(KCNT1):c.1947G>A (p.Ser649=) rs779903423
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg) rs1022928641
NM_020822.3(KCNT1):c.1962C>T (p.His654=) rs141759469
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=) rs533528985
NM_020822.3(KCNT1):c.1988A>G (p.His663Arg)
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625
NM_020822.3(KCNT1):c.2008+7C>T rs372707698
NM_020822.3(KCNT1):c.2008+8G>A rs759334176
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077
NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly) rs1207174167
NM_020822.3(KCNT1):c.2049T>C (p.Pro683=) rs1234688449
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) rs377506738
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=) rs111647144
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.3(KCNT1):c.2087C>T (p.Ala696Val)
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485
NM_020822.3(KCNT1):c.2133G>A (p.Ala711=) rs755266973
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) rs377516058
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) rs150222138
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797
NM_020822.3(KCNT1):c.2222A>G (p.Asp741Gly) rs756359375
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) rs559344618
NM_020822.3(KCNT1):c.2295C>T (p.Thr765=) rs765278495
NM_020822.3(KCNT1):c.231C>T (p.Asp77=) rs370998066
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) rs777479133
NM_020822.3(KCNT1):c.2337G>A (p.Leu779=) rs544099606
NM_020822.3(KCNT1):c.2349+6G>T
NM_020822.3(KCNT1):c.2350-10C>T rs367855961
NM_020822.3(KCNT1):c.237C>T (p.Ser79=) rs749179872
NM_020822.3(KCNT1):c.240C>T (p.Phe80=) rs1554763398
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=) rs142726010
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn)
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.2568C>T (p.Val856=) rs1554777911
NM_020822.3(KCNT1):c.2594+6G>A rs973179248
NM_020822.3(KCNT1):c.2594+7C>T rs545094921
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020822.3(KCNT1):c.2638C>T (p.Leu880=) rs1588384964
NM_020822.3(KCNT1):c.2670C>T (p.Ser890=) rs765403435
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=) rs373503298
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) rs554237279
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=) rs770619151
NM_020822.3(KCNT1):c.2799C>T (p.Arg933=) rs551148089
NM_020822.3(KCNT1):c.279C>T (p.Asn93=) rs183022730
NM_020822.3(KCNT1):c.2847G>A (p.Glu949=) rs779429071
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=) rs147671362
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) rs762968242
NM_020822.3(KCNT1):c.2943+7G>A rs375869783
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) rs771951768
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=) rs560435329
NM_020822.3(KCNT1):c.300G>A (p.Arg100=) rs762249620
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=) rs748942066
NM_020822.3(KCNT1):c.3063G>A (p.Thr1021=) rs760974671
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=) rs766717782
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) rs1360446142
NM_020822.3(KCNT1):c.309G>T (p.Leu103=) rs767894239
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=) rs765432746
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876
NM_020822.3(KCNT1):c.3162C>T (p.His1054=) rs146272510
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=) rs765774534
NM_020822.3(KCNT1):c.3247G>A (p.Ala1083Thr) rs917893164
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458
NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp)
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys) rs1060503695
NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His) rs369576806
NM_020822.3(KCNT1):c.3282G>A (p.Thr1094=)
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077
NM_020822.3(KCNT1):c.335-4G>A rs372339395
NM_020822.3(KCNT1):c.335-5C>T rs745658927
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=) rs372410150
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692
NM_020822.3(KCNT1):c.3461A>G (p.Lys1154Arg) rs779810960
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309
NM_020822.3(KCNT1):c.3521A>G (p.Gln1174Arg)
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=) rs773695396
NM_020822.3(KCNT1):c.3622G>A (p.Ala1208Thr) rs1564402008
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=) rs755694160
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=) rs556454353
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) rs144679713
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449
NM_020822.3(KCNT1):c.434+10G>A rs187872786
NM_020822.3(KCNT1):c.480C>T (p.Ser160=) rs374042509
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val) rs141961737
NM_020822.3(KCNT1):c.541-7C>A rs1489319809
NM_020822.3(KCNT1):c.54C>G (p.Arg18=) rs754697766
NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser)
NM_020822.3(KCNT1):c.585C>T (p.Ile195=) rs148910448
NM_020822.3(KCNT1):c.62G>T (p.Gly21Val) rs368870705
NM_020822.3(KCNT1):c.645G>A (p.Glu215=) rs1233969286
NM_020822.3(KCNT1):c.760-9C>T rs1554771446
NM_020822.3(KCNT1):c.851C>T (p.Thr284Met) rs376583438
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496
NM_020822.3(KCNT1):c.903C>T (p.Leu301=) rs1588330751
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys) rs754823810
NM_020822.3(KCNT1):c.957C>T (p.Asp319=) rs148562086
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695
NM_025219.3(DNAJC5):c.153G>A (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.18G>A (p.Gln6=) rs148585496
NM_025219.3(DNAJC5):c.193G>T (p.Ala65Ser)
NM_025219.3(DNAJC5):c.207C>T (p.Asp69=) rs760881795
NM_025219.3(DNAJC5):c.237C>T (p.Tyr79=) rs149971662
NM_025219.3(DNAJC5):c.244C>T (p.Leu82=) rs1168791937
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069
NM_025219.3(DNAJC5):c.322-5C>G rs373568941
NM_025219.3(DNAJC5):c.324C>G (p.Ala108=) rs141103374
NM_025219.3(DNAJC5):c.327G>C (p.Leu109=) rs1555880229
NM_025219.3(DNAJC5):c.339C>T (p.Cys113=) rs886043295
NM_025219.3(DNAJC5):c.351G>A (p.Thr117=) rs775067598
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) rs746222594
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851
NM_025219.3(DNAJC5):c.52C>G (p.His18Asp)
NM_025219.3(DNAJC5):c.561C>T (p.Asp187=) rs776807695
NM_032737.4(LMNB2):c.1029C>T (p.Ala343=) rs749052582
NM_032737.4(LMNB2):c.1062C>T (p.Asp354=) rs1452537561
NM_032737.4(LMNB2):c.1137C>T (p.Asp379=) rs144455343
NM_032737.4(LMNB2):c.1197G>A (p.Glu399=) rs377234774
NM_032737.4(LMNB2):c.1230G>A (p.Ser410=) rs765514044
NM_032737.4(LMNB2):c.1298G>A (p.Arg433His) rs770685785
NM_032737.4(LMNB2):c.1332C>T (p.Pro444=) rs998616364
NM_032737.4(LMNB2):c.1344C>T (p.Gly448=) rs144665669
NM_032737.4(LMNB2):c.1363G>C (p.Gly455Arg) rs772769360
NM_032737.4(LMNB2):c.1368G>A (p.Thr456=) rs138399575
NM_032737.4(LMNB2):c.1482+7G>A rs761605440
NM_032737.4(LMNB2):c.1575C>T (p.Ala525=) rs140216957
NM_032737.4(LMNB2):c.1686C>T (p.Thr562=) rs140533741
NM_032737.4(LMNB2):c.1698C>T (p.Asn566=) rs147619532
NM_032737.4(LMNB2):c.1707C>T (p.Gly569=) rs372581793
NM_032737.4(LMNB2):c.1743G>C (p.Ser581=) rs142082911
NM_032737.4(LMNB2):c.1776G>A (p.Glu592=) rs1555682686
NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp) rs145978406
NM_032737.4(LMNB2):c.180C>T (p.Tyr60=) rs1216160175
NM_032737.4(LMNB2):c.1830G>T (p.Pro610=) rs748782215
NM_032737.4(LMNB2):c.1842A>G (p.Ser614=) rs1249699732
NM_032737.4(LMNB2):c.264+7G>T rs748398790
NM_032737.4(LMNB2):c.265-6C>T rs267607650
NM_032737.4(LMNB2):c.288C>T (p.Tyr96=) rs201605408
NM_032737.4(LMNB2):c.402C>T (p.Ser134=) rs148213507
NM_032737.4(LMNB2):c.511C>T (p.Arg171Cys) rs559301030
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser) rs112419003
NM_032737.4(LMNB2):c.684+10T>C rs780040758
NM_032737.4(LMNB2):c.777G>A (p.Ala259=) rs368625656
NM_032737.4(LMNB2):c.815G>A (p.Arg272Gln) rs142557433
NM_032737.4(LMNB2):c.843C>T (p.Thr281=) rs1043055908
NM_032737.4(LMNB2):c.855+8C>T rs375918278
NM_032737.4(LMNB2):c.856-8C>T rs766316644
NM_032737.4(LMNB2):c.864C>T (p.Ser288=) rs1440075723
NM_032737.4(LMNB2):c.903T>C (p.Ser301=) rs1477375411
NM_032737.4(LMNB2):c.906G>A (p.Ala302=) rs144417417
NM_032737.4(LMNB2):c.982-4G>A rs370025312
NM_032737.4(LMNB2):c.982-5C>T rs759160292
NM_152778.3(MFSD8):c.102C>T (p.Ser34=) rs139212190
NM_152778.3(MFSD8):c.1320A>G (p.Leu440=) rs148864710
NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.3(MFSD8):c.270T>A (p.Ala90=) rs754809138
NM_152778.3(MFSD8):c.342C>T (p.Ser114=) rs201905099
NM_152778.3(MFSD8):c.435A>C (p.Gly145=) rs781299975
NM_152778.3(MFSD8):c.590G>A (p.Gly197Asp) rs28544073
NM_152778.3(MFSD8):c.63-4del rs755011754
NM_152778.3(MFSD8):c.78A>G (p.Leu26=) rs770986122
NM_152778.3(MFSD8):c.813C>T (p.Ala271=) rs768499490
NM_152778.3(MFSD8):c.975A>G (p.Leu325=) rs570989221
NM_152778.3(MFSD8):c.978A>G (p.Gly326=) rs138219028
NM_153026.3(PRICKLE1):c.113C>T (p.Pro38Leu) rs145493619
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=) rs183742526
NM_153026.3(PRICKLE1):c.1449T>C (p.Ser483=) rs760731193
NM_153026.3(PRICKLE1):c.1608G>A (p.Ser536=) rs144062651
NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=) rs748556304
NM_153026.3(PRICKLE1):c.1640-7C>T rs1555229472
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219
NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=) rs955717976
NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=) rs1555229340
NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=) rs1256250717
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604
NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=) rs1593099876
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) rs1332245067
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=) rs137985321
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042
NM_153026.3(PRICKLE1):c.2202C>T (p.Tyr734=) rs570186739
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511
NM_153026.3(PRICKLE1):c.249A>G (p.Val83=) rs763029790
NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=) rs1555230725
NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=) rs746728526
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) rs201613485
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=) rs376385820
NM_153026.3(PRICKLE1):c.498C>G (p.Val166=) rs1555230606
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=) rs370960593
NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=) rs537302175
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=) rs764986581
NM_153033.4(KCTD7):c.133C>T (p.Leu45=) rs587780370
NM_153033.4(KCTD7):c.168C>T (p.Asn56=) rs371824397
NM_153033.4(KCTD7):c.192A>G (p.Thr64=) rs142526573
NM_153033.4(KCTD7):c.204A>C (p.Thr68=) rs777859099
NM_153033.4(KCTD7):c.273C>T (p.Ser91=) rs139585796
NM_153033.4(KCTD7):c.405G>C (p.Gly135=) rs555039386
NM_153033.4(KCTD7):c.411C>T (p.Leu137=) rs374072904
NM_153033.4(KCTD7):c.417G>A (p.Glu139=) rs1554300872
NM_153033.4(KCTD7):c.465G>A (p.Ala155=) rs773209661
NM_153033.4(KCTD7):c.507G>C (p.Arg169=) rs142379946
NM_153033.4(KCTD7):c.534G>A (p.Ala178=) rs773060529
NM_153033.4(KCTD7):c.594C>G (p.Pro198=) rs749192199
NM_153033.4(KCTD7):c.621C>A (p.Leu207=) rs376944331
NM_153033.4(KCTD7):c.687T>C (p.Asp229=) rs372150992
NM_153033.4(KCTD7):c.786G>A (p.Gln262=) rs1584399843
NM_153033.4:c.315-?_*3997+?dup
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544
NM_198586.3(NHLRC1):c.1092G>A (p.Ser364=) rs760322295
NM_198586.3(NHLRC1):c.123G>C (p.Pro41=) rs1161024300
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=) rs1409114977
NM_198586.3(NHLRC1):c.27G>A (p.Gly9=) rs765575310
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) rs143537405
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=) rs754756237
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172
NM_198586.3(NHLRC1):c.882G>T (p.Val294=) rs1314207581
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723
NM_198859.4(PRICKLE2):c.1311C>G (p.Ala437=) rs140374952
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644
NM_198859.4(PRICKLE2):c.1425G>A (p.Gly475=) rs147177975
NM_198859.4(PRICKLE2):c.1593G>A (p.Glu531=) rs1337013281
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200
NM_198859.4(PRICKLE2):c.1803C>T (p.Ser601=) rs1431593729
NM_198859.4(PRICKLE2):c.2037C>T (p.Asn679=) rs1575531163
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) rs148689951
NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=) rs867670809
NM_198859.4(PRICKLE2):c.2479A>C (p.Arg827=) rs777032629
NM_198859.4(PRICKLE2):c.360T>A (p.Pro120=) rs191871740
NM_198859.4(PRICKLE2):c.397-8C>T rs762192312
NM_198859.4(PRICKLE2):c.471G>A (p.Pro157=) rs777067889
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077
NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=) rs888655219
NM_198859.4(PRICKLE2):c.732C>T (p.Cys244=) rs1575596028
NM_198859.4(PRICKLE2):c.972C>T (p.Ser324=) rs143141434

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