ClinVar Miner

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

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 718
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HGVS dbSNP
NC_000007.14:g.(?_66638233)_(66640414_?)dup
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.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_000310.3(PPT1):c.124+10_124+13delTGAG rs768863525
NM_000310.3(PPT1):c.225C>T (p.Thr75=) rs1477732757
NM_000310.3(PPT1):c.627+9C>T rs368895182
NM_000310.3(PPT1):c.651A>G (p.Lys217=) rs1553166517
NM_000310.3(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.810G>C (p.Gly270=) rs371213189
NM_000391.3(TPP1):c.1089C>T (p.Ala363=) rs151068181
NM_000391.3(TPP1):c.1266+8T>C rs752269166
NM_000391.3(TPP1):c.1426-10A>G rs200965587
NM_000391.3(TPP1):c.1426-10A>T rs200965587
NM_000391.3(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.3(TPP1):c.1569T>C (p.His523=) rs1029334403
NM_000391.3(TPP1):c.1593A>G (p.Val531=) rs1554901473
NM_000391.3(TPP1):c.18-10G>T rs778206032
NM_000391.3(TPP1):c.219T>C (p.Ser73=) rs1456089848
NM_000391.3(TPP1):c.229+8T>C rs1263525920
NM_000391.3(TPP1):c.297G>A (p.Val99=) rs753066277
NM_000391.3(TPP1):c.318C>T (p.Ala106=) rs774528021
NM_000391.3(TPP1):c.381-4C>G rs529421892
NM_000391.3(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.3(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.3(TPP1):c.544C>T (p.Leu182=) rs776858324
NM_000391.3(TPP1):c.669C>T (p.Asn223=) rs1554901936
NM_000391.3(TPP1):c.688-4A>G rs370683758
NM_000391.3(TPP1):c.69G>A (p.Pro23=) rs141680923
NM_000742.3(CHRNA2):c.1158C>T (p.Pro386=) rs560790452
NM_000742.3(CHRNA2):c.1176C>T (p.Pro392=) rs764346961
NM_000742.3(CHRNA2):c.1248G>C (p.Val416=) rs370878600
NM_000742.3(CHRNA2):c.1378C>T (p.Leu460=) rs765948265
NM_000742.3(CHRNA2):c.1464+7_1464+8delTG rs763426344
NM_000742.3(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.3(CHRNA2):c.1569G>A (p.Pro523=) rs199993564
NM_000742.3(CHRNA2):c.210C>T (p.Tyr70=) rs144316375
NM_000742.3(CHRNA2):c.225C>A (p.Arg75=) rs371737919
NM_000742.3(CHRNA2):c.324C>T (p.Asn108=) rs544939077
NM_000742.3(CHRNA2):c.347G>T (p.Ser116Ile) rs541282922
NM_000742.3(CHRNA2):c.354C>T (p.Tyr118=) rs778279138
NM_000742.3(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.3(CHRNA2):c.45C>T (p.Ser15=) rs149934219
NM_000742.3(CHRNA2):c.710C>A (p.Thr237Lys) rs140350483
NM_000742.3(CHRNA2):c.723C>T (p.Asn241=) rs1060504822
NM_000742.3(CHRNA2):c.731A>G (p.Lys244Arg) rs146751925
NM_000742.3(CHRNA2):c.735C>T (p.Tyr245=) rs775595773
NM_000742.3(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.3(CHRNA2):c.790C>T (p.Leu264=) rs746292157
NM_000742.3(CHRNA2):c.852G>A (p.Val284=) rs1357751027
NM_000742.3(CHRNA2):c.966G>A (p.Ser322=) rs140118184
NM_000742.3(CHRNA2):c.984C>T (p.Ile328=) rs371858399
NM_000744.6(CHRNA4):c.105C>T (p.His35=) rs199541666
NM_000744.6(CHRNA4):c.1083G>A (p.Pro361=) rs202140852
NM_000744.6(CHRNA4):c.1104C>T (p.Cys368=) rs202166947
NM_000744.6(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652
NM_000744.6(CHRNA4):c.1160A>G (p.Glu387Gly) rs45604738
NM_000744.6(CHRNA4):c.132C>T (p.Leu44=) rs1555840462
NM_000744.6(CHRNA4):c.1359C>T (p.His453=) rs121912276
NM_000744.6(CHRNA4):c.1376G>A (p.Gly459Glu) rs753201154
NM_000744.6(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225
NM_000744.6(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498
NM_000744.6(CHRNA4):c.1527C>T (p.Ala509=) rs758693290
NM_000744.6(CHRNA4):c.1584G>A (p.Pro528=) rs199783192
NM_000744.6(CHRNA4):c.1635G>A (p.Thr545=) rs121912283
NM_000744.6(CHRNA4):c.1658C>T (p.Ala553Val) rs762808071
NM_000744.6(CHRNA4):c.1661C>T (p.Pro554Leu) rs56000199
NM_000744.6(CHRNA4):c.1726G>C (p.Asp576His) rs537904499
NM_000744.6(CHRNA4):c.177G>A (p.Ser59=) rs138295365
NM_000744.6(CHRNA4):c.17C>T (p.Pro6Leu) rs1238575890
NM_000744.6(CHRNA4):c.1860G>A (p.Pro620=) rs202203317
NM_000744.6(CHRNA4):c.1867C>T (p.Leu623=) rs878854142
NM_000744.6(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.6(CHRNA4):c.345C>T (p.Ser115=) rs201033859
NM_000744.6(CHRNA4):c.372C>T (p.Val124=) rs201386851
NM_000744.6(CHRNA4):c.384-9C>T rs199992800
NM_000744.6(CHRNA4):c.41C>T (p.Pro14Leu) rs761934698
NM_000744.6(CHRNA4):c.537C>T (p.Phe179=) rs747499031
NM_000744.6(CHRNA4):c.729G>A (p.Pro243=) rs121912253
NM_000744.6(CHRNA4):c.77-10C>T rs200490160
NM_000744.6(CHRNA4):c.777C>T (p.Cys259=) rs1555837947
NM_000744.6(CHRNA4):c.879C>T (p.Thr293=) rs371527699
NM_000744.6(CHRNA4):c.900A>G (p.Ser300=) rs878854143
NM_000744.6(CHRNA4):c.912A>G (p.Pro304=) rs1041716120
NM_000748.2(CHRNB2):c.1080C>A (p.Arg360=) rs1180459670
NM_000748.2(CHRNB2):c.1128C>T (p.Leu376=) rs113116986
NM_000748.2(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.2(CHRNB2):c.1236C>T (p.Gly412=) rs767533378
NM_000748.2(CHRNB2):c.1339-6A>T rs200177119
NM_000748.2(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000748.2(CHRNB2):c.201C>T (p.Leu67=) rs773706734
NM_000748.2(CHRNB2):c.441G>A (p.Pro147=) rs780464481
NM_000748.2(CHRNB2):c.708C>T (p.Phe236=) rs71628622
NM_000748.2(CHRNB2):c.77C>T (p.Thr26Met) rs71651692
NM_000748.2(CHRNB2):c.780C>T (p.Ser260=) rs369234693
NM_000806.5(GABRA1):c.1065G>A (p.Lys355=) rs1554087785
NM_000806.5(GABRA1):c.1104C>T (p.Tyr368=) rs771832995
NM_000806.5(GABRA1):c.1206C>T (p.Pro402=) rs541335259
NM_000806.5(GABRA1):c.1284G>A (p.Pro428=) rs74873701
NM_000806.5(GABRA1):c.150A>G (p.Leu50=) rs1006797468
NM_000806.5(GABRA1):c.216C>T (p.Ile72=) rs200716712
NM_000806.5(GABRA1):c.477-5T>C rs779231183
NM_000806.5(GABRA1):c.48C>T (p.Leu16=) rs1554083720
NM_000806.5(GABRA1):c.576A>G (p.Ala192=) rs1319609279
NM_000806.5(GABRA1):c.756C>T (p.Tyr252=) rs775895535
NM_000806.5(GABRA1):c.856+8C>T rs1554087151
NM_000806.5(GABRA1):c.857-8C>T rs752572964
NM_000833.4(GRIN2A):c.1008-9C>G rs111844068
NM_000833.4(GRIN2A):c.1224C>T (p.Ile408=) rs776264780
NM_000833.4(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_000833.4(GRIN2A):c.1380C>T (p.Cys460=) rs375291296
NM_000833.4(GRIN2A):c.1458C>A (p.Gly486=) rs144572467
NM_000833.4(GRIN2A):c.2007+10C>T rs368110989
NM_000833.4(GRIN2A):c.2325C>T (p.Ile775=) rs748291723
NM_000833.4(GRIN2A):c.2505C>T (p.Phe835=) rs771342023
NM_000833.4(GRIN2A):c.258G>A (p.Val86=) rs774606054
NM_000833.4(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_000833.4(GRIN2A):c.2760A>G (p.Arg920=) rs80138441
NM_000833.4(GRIN2A):c.2805T>G (p.Val935=) rs762984731
NM_000833.4(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367
NM_000833.4(GRIN2A):c.2877C>T (p.Asn959=) rs756576680
NM_000833.4(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_000833.4(GRIN2A):c.288C>T (p.His96=) rs74853460
NM_000833.4(GRIN2A):c.2985G>C (p.Thr995=) rs781646325
NM_000833.4(GRIN2A):c.3003C>T (p.Ser1001=) rs199551487
NM_000833.4(GRIN2A):c.3039G>A (p.Leu1013=) rs577077724
NM_000833.4(GRIN2A):c.306C>T (p.Asp102=) rs200850130
NM_000833.4(GRIN2A):c.3108G>A (p.Glu1036=) rs1555482675
NM_000833.4(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301
NM_000833.4(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_000833.4(GRIN2A):c.324C>T (p.Ala108=) rs762110435
NM_000833.4(GRIN2A):c.3366T>G (p.Gly1122=) rs1060504864
NM_000833.4(GRIN2A):c.3468A>T (p.Glu1156Asp) rs778180100
NM_000833.4(GRIN2A):c.3630C>T (p.Asn1210=) rs750892541
NM_000833.4(GRIN2A):c.3687C>A (p.Thr1229=) rs1060504863
NM_000833.4(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_000833.4(GRIN2A):c.3953G>A (p.Arg1318Gln) rs149745535
NM_000833.4(GRIN2A):c.402C>T (p.Ile134=) rs587780352
NM_000833.4(GRIN2A):c.4140G>C (p.Gly1380=) rs373901698
NM_000833.4(GRIN2A):c.4176A>G (p.Pro1392=) rs886043681
NM_000833.4(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_000833.4(GRIN2A):c.4230G>A (p.Ser1410=) rs762437402
NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_000833.4(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291
NM_000833.4(GRIN2A):c.468G>A (p.Thr156=) rs773513210
NM_000833.4(GRIN2A):c.522C>A (p.Thr174=) rs771962690
NM_000833.4(GRIN2A):c.540C>T (p.Tyr180=) rs745815376
NM_000833.4(GRIN2A):c.60T>C (p.Gly20=) rs367543130
NM_000833.4(GRIN2A):c.63G>C (p.Pro21=) rs1060504865
NM_000833.4(GRIN2A):c.666C>T (p.Ile222=) rs143594020
NM_000833.4(GRIN2A):c.702C>T (p.Asp234=) rs150208429
NM_000833.4(GRIN2A):c.741C>T (p.Gly247=) rs141912603
NM_000833.4(GRIN2A):c.819A>G (p.Pro273=) rs148085725
NM_000833.4(GRIN2A):c.828C>G (p.Leu276=) rs752295285
NM_000833.4(GRIN2A):c.837C>G (p.Val279=) rs55885632
NM_000833.4(GRIN2A):c.882C>T (p.Asp294=) rs201002710
NM_000833.4(GRIN2A):c.939C>T (p.Ile313=) rs146867324
NM_000833.4(GRIN2A):c.942C>T (p.Pro314=) rs145172949
NM_000833.4(GRIN2A):c.963C>T (p.Tyr321=) rs368200727
NM_001042432.1(CLN3):c.1191C>T (p.Ala397=) rs779338007
NM_001042432.1(CLN3):c.1197+8T>C rs587780895
NM_001042432.1(CLN3):c.1209G>A (p.Glu403=) rs377369610
NM_001042432.1(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_001042432.1(CLN3):c.126-4C>A rs1555469191
NM_001042432.1(CLN3):c.238A>T (p.Thr80Ser) rs150348015
NM_001042432.1(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_001042432.1(CLN3):c.327C>T (p.Leu109=) rs748293490
NM_001042432.1(CLN3):c.375-19_375-4dup rs755313503
NM_001042432.1(CLN3):c.420C>G (p.Val140=) rs544119921
NM_001042432.1(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_001042432.1(CLN3):c.962+7G>A rs1555468172
NM_001042432.1(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_001042432.1(CLN3):c.987C>T (p.Gly329=) rs777779035
NM_001077350.2(NPRL3):c.1107C>T (p.Ser369=) rs572375358
NM_001077350.2(NPRL3):c.111C>T (p.Ser37=) rs1555446496
NM_001077350.2(NPRL3):c.1197G>A (p.Gln399=) rs369473961
NM_001077350.2(NPRL3):c.1317C>T (p.Leu439=) rs1374917107
NM_001077350.2(NPRL3):c.1356C>T (p.Ser452=) rs373792025
NM_001077350.2(NPRL3):c.1419C>T (p.Ser473=) rs571533880
NM_001077350.2(NPRL3):c.1485C>T (p.Arg495=) rs767665276
NM_001077350.2(NPRL3):c.1516A>T (p.Asn506Tyr) rs202015937
NM_001077350.2(NPRL3):c.1593C>T (p.Tyr531=) rs200669192
NM_001077350.2(NPRL3):c.1625T>C (p.Met542Thr) rs185556688
NM_001077350.2(NPRL3):c.294A>T (p.Thr98=) rs370196395
NM_001077350.2(NPRL3):c.52A>C (p.Arg18=) rs1218964632
NM_001077350.2(NPRL3):c.696C>T (p.Pro232=) rs368272925
NM_001077350.2(NPRL3):c.714G>A (p.Ala238=) rs751260495
NM_001112741.1(KCNC1):c.1440C>T (p.His480=) rs1554991429
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.492G>A (p.Arg164=) rs200097310
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.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_001242896.1(DEPDC5):c.1014C>T (p.Pro338=) rs774034064
NM_001242896.1(DEPDC5):c.1230C>G (p.Ser410=) rs771613005
NM_001242896.1(DEPDC5):c.1245T>C (p.Phe415=) rs1555880783
NM_001242896.1(DEPDC5):c.1290C>T (p.Pro430=) rs201202102
NM_001242896.1(DEPDC5):c.1321A>G (p.Thr441Ala) rs199749859
NM_001242896.1(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709
NM_001242896.1(DEPDC5):c.1380C>T (p.Asp460=) rs375451146
NM_001242896.1(DEPDC5):c.138T>A (p.Asp46Glu) rs535630975
NM_001242896.1(DEPDC5):c.1416A>G (p.Pro472=) rs930376201
NM_001242896.1(DEPDC5):c.146+5G>A rs748264035
NM_001242896.1(DEPDC5):c.1509C>T (p.Ser503=) rs376217381
NM_001242896.1(DEPDC5):c.1758T>C (p.Val586=) rs766732676
NM_001242896.1(DEPDC5):c.1803C>T (p.Phe601=) rs368563183
NM_001242896.1(DEPDC5):c.1870+10T>C rs760092505
NM_001242896.1(DEPDC5):c.2019C>G (p.Ser673=) rs372975881
NM_001242896.1(DEPDC5):c.2034C>T (p.Asp678=) rs779428450
NM_001242896.1(DEPDC5):c.204T>C (p.Ser68=) rs774206363
NM_001242896.1(DEPDC5):c.2171-10C>T rs746913609
NM_001242896.1(DEPDC5):c.2171-9G>A rs770492339
NM_001242896.1(DEPDC5):c.2253G>A (p.Ala751=) rs777616535
NM_001242896.1(DEPDC5):c.2361C>T (p.Asp787=) rs371165640
NM_001242896.1(DEPDC5):c.2367T>C (p.Asp789=) rs751377415
NM_001242896.1(DEPDC5):c.2515+10T>C rs1276307484
NM_001242896.1(DEPDC5):c.252T>C (p.Asp84=) rs183443533
NM_001242896.1(DEPDC5):c.2577G>A (p.Thr859=) rs375938114
NM_001242896.1(DEPDC5):c.2592G>A (p.Thr864=) rs763764167
NM_001242896.1(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084
NM_001242896.1(DEPDC5):c.2862C>T (p.Thr954=) rs1027803497
NM_001242896.1(DEPDC5):c.2880G>A (p.Thr960=) rs767693306
NM_001242896.1(DEPDC5):c.3006G>A (p.Ser1002=) rs373751704
NM_001242896.1(DEPDC5):c.3054T>C (p.Thr1018=) rs372062387
NM_001242896.1(DEPDC5):c.3057G>A (p.Gly1019=) rs1060504242
NM_001242896.1(DEPDC5):c.3096A>G (p.Pro1032=) rs756207564
NM_001242896.1(DEPDC5):c.3123C>T (p.Leu1041=) rs1555901654
NM_001242896.1(DEPDC5):c.3155A>G (p.Lys1052Arg) rs200277794
NM_001242896.1(DEPDC5):c.3177A>G (p.Ala1059=) rs776608344
NM_001242896.1(DEPDC5):c.3213C>G (p.Ala1071=) rs373166302
NM_001242896.1(DEPDC5):c.3225C>T (p.Ser1075=) rs757534228
NM_001242896.1(DEPDC5):c.3265-3C>T rs371377906
NM_001242896.1(DEPDC5):c.3315C>T (p.Ser1105=) rs371969641
NM_001242896.1(DEPDC5):c.3331-10del rs377356885
NM_001242896.1(DEPDC5):c.3366C>T (p.Asp1122=) rs375702574
NM_001242896.1(DEPDC5):c.3486-5dup rs1555914747
NM_001242896.1(DEPDC5):c.351A>G (p.Leu117=) rs746535603
NM_001242896.1(DEPDC5):c.3696+10C>A rs755463750
NM_001242896.1(DEPDC5):c.3798C>T (p.Pro1266=) rs376187025
NM_001242896.1(DEPDC5):c.3805+10G>A rs201608608
NM_001242896.1(DEPDC5):c.3806-8T>C rs1555919097
NM_001242896.1(DEPDC5):c.3837C>T (p.His1279=) rs370472498
NM_001242896.1(DEPDC5):c.3846A>G (p.Gly1282=) rs771875089
NM_001242896.1(DEPDC5):c.3858C>T (p.Phe1286=) rs192246855
NM_001242896.1(DEPDC5):c.3948G>A (p.Leu1316=) rs371864100
NM_001242896.1(DEPDC5):c.4077C>T (p.Asp1359=) rs573674033
NM_001242896.1(DEPDC5):c.4386C>T (p.Pro1462=) rs754105028
NM_001242896.1(DEPDC5):c.4392G>A (p.Thr1464=) rs756506370
NM_001242896.1(DEPDC5):c.4437G>A (p.Arg1479=) rs1057522689
NM_001242896.1(DEPDC5):c.453C>T (p.Val151=) rs558913954
NM_001242896.1(DEPDC5):c.4542C>T (p.Pro1514=) rs368918488
NM_001242896.1(DEPDC5):c.4647C>G (p.Ala1549=) rs1555943168
NM_001242896.1(DEPDC5):c.4683C>T (p.Ser1561=) rs370189053
NM_001242896.1(DEPDC5):c.4809G>A (p.Pro1603=) rs201307299
NM_001242896.1(DEPDC5):c.633C>T (p.Asn211=) rs771270766
NM_001242896.1(DEPDC5):c.711A>C (p.Ile237=) rs368571578
NM_001242896.1(DEPDC5):c.71T>G (p.Val24Gly) rs572660873
NM_001242896.1(DEPDC5):c.813C>T (p.Leu271=) rs200547310
NM_001242896.1(DEPDC5):c.871+9T>C rs373471598
NM_001242896.1(DEPDC5):c.879T>C (p.Phe293=) rs1335286901
NM_001242896.1(DEPDC5):c.946+10G>C rs367917127
NM_001909.4(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.4(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.4(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.4(CTSD):c.1071+7G>A rs374010531
NM_001909.4(CTSD):c.1077G>A (p.Ser359=) rs138940129
NM_001909.4(CTSD):c.1122C>T (p.Asp374=) rs145821780
NM_001909.4(CTSD):c.1128G>A (p.Pro376=) rs929763593
NM_001909.4(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.4(CTSD):c.1221C>T (p.Ala407=) rs1439111867
NM_001909.4(CTSD):c.1230C>T (p.Ala410=) rs772742148
NM_001909.4(CTSD):c.180A>G (p.Pro60=) rs749805002
NM_001909.4(CTSD):c.216G>A (p.Lys72=) rs764982673
NM_001909.4(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.4(CTSD):c.306C>T (p.Asn102=) rs1258957118
NM_001909.4(CTSD):c.345C>T (p.Ile115=) rs200875086
NM_001909.4(CTSD):c.352+10G>C rs775828680
NM_001909.4(CTSD):c.352+8A>T rs944771031
NM_001909.4(CTSD):c.353-8C>T rs760934292
NM_001909.4(CTSD):c.393C>T (p.Tyr131=) rs776128996
NM_001909.4(CTSD):c.408C>G (p.Thr136=) rs1060504644
NM_001909.4(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.4(CTSD):c.630C>T (p.Asn210=) rs375282504
NM_001909.4(CTSD):c.636G>T (p.Leu212=) rs567625495
NM_001909.4(CTSD):c.75G>A (p.Pro25=) rs140563067
NM_001909.4(CTSD):c.816C>A (p.Val272=) rs1554962441
NM_001909.4(CTSD):c.828-4G>A rs371034011
NM_001909.4(CTSD):c.882G>A (p.Val294=) rs778999077
NM_001909.4(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.4(CTSD):c.933G>A (p.Leu311=) rs1428157464
NM_001909.4(CTSD):c.957G>A (p.Pro319=) rs369229897
NM_001909.4(CTSD):c.972+7G>A rs371747998
NM_001909.4(CTSD):c.972+9C>T rs746243061
NM_002087.3(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.3(GRN):c.513C>T (p.Cys171=) rs147974849
NM_002087.3(GRN):c.933+7delA rs762910178
NM_002247.3(KCNMA1):c.1218A>G (p.Gly406=) rs755284666
NM_002247.3(KCNMA1):c.132_137delCTCCTC (p.Ser59_Ser60del) rs572827902
NM_002247.3(KCNMA1):c.135_137delCTC (p.Ser60del) rs572827902
NM_002247.3(KCNMA1):c.1413C>A (p.Leu471=) rs903717178
NM_002247.3(KCNMA1):c.1737G>A (p.Arg579=) rs76141718
NM_002247.3(KCNMA1):c.2070A>T (p.Ile690=) rs368366851
NM_002247.3(KCNMA1):c.2374G>A (p.Val792Ile) rs142770262
NM_002247.3(KCNMA1):c.2595C>T (p.Cys865=) rs200241954
NM_002247.3(KCNMA1):c.2664G>A (p.Ala888=) rs113441525
NM_002247.3(KCNMA1):c.2673C>T (p.Asn891=) rs745890036
NM_002247.3(KCNMA1):c.2919C>G (p.Pro973=) rs777115771
NM_002247.3(KCNMA1):c.2970C>T (p.Ser990=) rs2227913
NM_002247.3(KCNMA1):c.2976G>A (p.Thr992=) rs75116272
NM_002247.3(KCNMA1):c.3144C>T (p.Leu1048=) rs779632278
NM_002247.3(KCNMA1):c.3267C>G (p.Thr1089=) rs765051720
NM_002247.3(KCNMA1):c.3476A>G (p.Asn1159Ser) rs563967757
NM_002247.3(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_002247.3(KCNMA1):c.414G>A (p.Ala138=) rs61736948
NM_002247.3(KCNMA1):c.498G>A (p.Ala166=) rs201765039
NM_002247.3(KCNMA1):c.603-6T>C rs201637862
NM_002247.3(KCNMA1):c.697-4C>T rs200844223
NM_002247.3(KCNMA1):c.771C>T (p.Pro257=) rs367642241
NM_002247.3(KCNMA1):c.783T>C (p.Ser261=) rs145604644
NM_002247.3(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_004287.4(GOSR2):c.17A>G (p.Gln6Arg) rs749270151
NM_004287.4(GOSR2):c.29+8C>T rs573306680
NM_004287.4(GOSR2):c.322A>C (p.Thr108Pro) rs138510884
NM_004287.4(GOSR2):c.336+9G>A rs200210055
NM_004287.4(GOSR2):c.369A>G (p.Ser123=) rs150381512
NM_004287.4(GOSR2):c.405C>T (p.Asn135=) rs753166413
NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.4(GOSR2):c.447T>C (p.Asp149=) rs750298260
NM_004287.4(GOSR2):c.72G>A (p.Thr24=) rs145772886
NM_004287.4(GOSR2):c.95-6G>T rs1345182096
NM_004287.4(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.340G>A (p.Val114Met) rs61735308
NM_005025.4(SERPINI1):c.573G>A (p.Lys191=) rs1553774750
NM_005025.4(SERPINI1):c.684T>C (p.Phe228=) rs557897218
NM_005045.3(RELN):c.10020G>A (p.Ser3340=) rs760919496
NM_005045.3(RELN):c.10108A>G (p.Thr3370Ala) rs570807790
NM_005045.3(RELN):c.1555G>T (p.Val519Phe) rs560704715
NM_005045.3(RELN):c.2016G>A (p.Pro672=) rs146749232
NM_005045.3(RELN):c.2352G>A (p.Thr784=) rs148510862
NM_005045.3(RELN):c.2376T>C (p.Gly792=) rs398124191
NM_005045.3(RELN):c.2466-6C>T rs1167948188
NM_005045.3(RELN):c.2754A>G (p.Gln918=) rs114620008
NM_005045.3(RELN):c.2827C>T (p.His943Tyr) rs190615928
NM_005045.3(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.3(RELN):c.3483G>A (p.Gly1161=) rs1254504314
NM_005045.3(RELN):c.3642C>T (p.Val1214=) rs151252449
NM_005045.3(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.3(RELN):c.3786A>G (p.Gly1262=) rs577453361
NM_005045.3(RELN):c.3891T>A (p.Pro1297=) rs145600583
NM_005045.3(RELN):c.3913-9T>C rs372473867
NM_005045.3(RELN):c.408G>C (p.Leu136=) rs1554427416
NM_005045.3(RELN):c.4191C>T (p.Asn1397=) rs544646610
NM_005045.3(RELN):c.4230G>A (p.Glu1410=) rs184601053
NM_005045.3(RELN):c.4257T>C (p.His1419=) rs138924805
NM_005045.3(RELN):c.4720G>A (p.Ala1574Thr) rs78480723
NM_005045.3(RELN):c.474-7T>C rs55693709
NM_005045.3(RELN):c.5016T>C (p.Cys1672=) rs983510937
NM_005045.3(RELN):c.5145A>G (p.Ser1715=) rs113229231
NM_005045.3(RELN):c.5200C>G (p.Leu1734Val) rs362800
NM_005045.3(RELN):c.5274G>T (p.Ala1758=) rs139102992
NM_005045.3(RELN):c.5352-9C>G rs758405612
NM_005045.3(RELN):c.5529+10A>T rs371510474
NM_005045.3(RELN):c.5599A>C (p.Arg1867=) rs753376558
NM_005045.3(RELN):c.5643G>A (p.Leu1881=) rs141387255
NM_005045.3(RELN):c.577+9T>C rs750186579
NM_005045.3(RELN):c.5796C>T (p.Asn1932=) rs200299096
NM_005045.3(RELN):c.5923G>A (p.Gly1975Ser) rs114807343
NM_005045.3(RELN):c.6072+7G>T rs777197865
NM_005045.3(RELN):c.6141C>T (p.Phe2047=) rs79161241
NM_005045.3(RELN):c.6147G>A (p.Ala2049=) rs116750302
NM_005045.3(RELN):c.6213C>T (p.Thr2071=) rs554215103
NM_005045.3(RELN):c.6240C>T (p.Tyr2080=) rs201505136
NM_005045.3(RELN):c.6303-9C>T rs200658237
NM_005045.3(RELN):c.6429C>T (p.Ile2143=) rs1554374836
NM_005045.3(RELN):c.6471A>G (p.Pro2157=) rs370086835
NM_005045.3(RELN):c.6553A>T (p.Met2185Leu) rs114686696
NM_005045.3(RELN):c.656+7dup rs768445353
NM_005045.3(RELN):c.6939T>C (p.Ile2313=) rs113498433
NM_005045.3(RELN):c.6962C>T (p.Thr2321Met) rs116065504
NM_005045.3(RELN):c.7107C>T (p.Asp2369=) rs114339919
NM_005045.3(RELN):c.7128C>G (p.Ser2376=) rs116057819
NM_005045.3(RELN):c.7180+8T>C rs1022021889
NM_005045.3(RELN):c.7287C>A (p.Ile2429=) rs915583909
NM_005045.3(RELN):c.7644G>A (p.Ser2548=) rs150743664
NM_005045.3(RELN):c.7713T>C (p.Asn2571=) rs1359170573
NM_005045.3(RELN):c.77C>T (p.Ala26Val) rs144557847
NM_005045.3(RELN):c.8004C>T (p.Thr2668=) rs368087558
NM_005045.3(RELN):c.8028C>T (p.Ser2676=) rs777057396
NM_005045.3(RELN):c.8154A>T (p.Thr2718=) rs1554367205
NM_005045.3(RELN):c.8625G>A (p.Pro2875=) rs190273964
NM_005045.3(RELN):c.877G>A (p.Asp293Asn) rs200289289
NM_005045.3(RELN):c.8863C>T (p.Arg2955Cys) rs114501042
NM_005045.3(RELN):c.8951-11_8951-8dup rs1554364085
NM_005045.3(RELN):c.9105G>A (p.Gly3035=) rs1279644782
NM_005045.3(RELN):c.9172T>C (p.Leu3058=) rs2286261
NM_005045.3(RELN):c.9414C>T (p.Ser3138=) rs375427974
NM_005045.3(RELN):c.9825C>T (p.Ser3275=) rs149713137
NM_005045.3(RELN):c.9984-9G>A rs758320422
NM_005076.4(CNTN2):c.1241-3T>C rs200577280
NM_005076.4(CNTN2):c.1344C>T (p.Ala448=) rs778178054
NM_005076.4(CNTN2):c.1392-6C>T rs749779814
NM_005076.4(CNTN2):c.1734G>A (p.Gln578=) rs200403480
NM_005076.4(CNTN2):c.186C>T (p.Arg62=) rs762058787
NM_005076.4(CNTN2):c.2155G>A (p.Gly719Arg) rs144056952
NM_005076.4(CNTN2):c.2163T>C (p.Gly721=) rs756031843
NM_005076.4(CNTN2):c.2340C>G (p.Pro780=) rs975647789
NM_005076.4(CNTN2):c.423C>T (p.Asp141=) rs774281069
NM_005076.4(CNTN2):c.505C>T (p.Leu169Phe) rs142502980
NM_005076.4(CNTN2):c.513C>T (p.Asn171=) rs371187600
NM_005076.4(CNTN2):c.552C>T (p.Phe184=) rs777614226
NM_005076.4(CNTN2):c.609C>T (p.Gly203=) rs762080946
NM_005097.3(LGI1):c.1026C>G (p.Asn342Lys) rs1554907730
NM_005097.3(LGI1):c.1155A>C (p.Leu385=) rs202148793
NM_005097.3(LGI1):c.1668C>T (p.Ser556=) rs763654125
NM_005097.3(LGI1):c.303C>T (p.Asn101=) rs762343857
NM_005097.3(LGI1):c.618C>T (p.Tyr206=) rs1554907108
NM_005097.3(LGI1):c.657C>T (p.Phe219=) rs1111820
NM_005097.3(LGI1):c.674-5dup rs1467827240
NM_005097.3(LGI1):c.717A>C (p.Ile239=) rs146425212
NM_005097.3(LGI1):c.738T>A (p.Asn246Lys) rs781404129
NM_005097.3(LGI1):c.838+10G>A rs756267808
NM_005097.3(LGI1):c.882G>A (p.Gln294=) rs1554907709
NM_005506.3(SCARB2):c.1188-5T>C rs775387526
NM_005506.3(SCARB2):c.1407G>A (p.Ala469=) rs144878666
NM_005506.3(SCARB2):c.228C>T (p.Leu76=) rs35069772
NM_005506.3(SCARB2):c.276-7C>G rs200507087
NM_005506.3(SCARB2):c.303A>G (p.Gln101=) rs1242165140
NM_005506.3(SCARB2):c.33G>T (p.Thr11=) rs774721226
NM_005506.3(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.3(SCARB2):c.424-4G>A rs368869126
NM_005506.3(SCARB2):c.424-5C>T rs192876326
NM_005506.3(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005506.3(SCARB2):c.486C>T (p.Ala162=) rs143518519
NM_005506.3(SCARB2):c.567T>C (p.His189=) rs141208366
NM_005506.3(SCARB2):c.580G>A (p.Asp194Asn) rs773017713
NM_005506.3(SCARB2):c.690A>G (p.Glu230=) rs957776724
NM_005506.3(SCARB2):c.915G>A (p.Thr305=) rs762138695
NM_005670.3(EPM2A):c.129C>G (p.Ala43=) rs547147183
NM_005670.3(EPM2A):c.171G>T (p.Pro57=) rs531330673
NM_005670.3(EPM2A):c.210G>A (p.Glu70=) rs878854780
NM_005670.3(EPM2A):c.345C>T (p.Asn115=) rs764231649
NM_005670.3(EPM2A):c.681C>T (p.Ala227=) rs61758156
NM_005670.3(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005670.3(EPM2A):c.849T>C (p.Tyr283=) rs142027344
NM_005670.3(EPM2A):c.876G>A (p.Val292=) rs774234576
NM_005670.3(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_006493.2(CLN5):c.261T>C (p.Val87=) rs1453178211
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.2(CLN5):c.789A>T (p.Val263=) rs751496223
NM_006493.2(CLN5):c.801A>C (p.Pro267=) rs752406072
NM_015973.4(GAL):c.106C>T (p.Leu36=) rs528520052
NM_015973.4(GAL):c.177C>G (p.Gly59=) rs533111349
NM_015973.4(GAL):c.253A>G (p.Asn85Asp) rs145825008
NM_015973.4(GAL):c.306C>T (p.Ala102=) rs147122838
NM_015973.4(GAL):c.66G>A (p.Ala22=) rs542684427
NM_017882.2(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.2(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.2(CLN6):c.213C>T (p.Leu71=) rs146980624
NM_017882.2(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.2(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.2(CLN6):c.396T>C (p.Ser132=) rs949403836
NM_017882.2(CLN6):c.522G>A (p.Glu174=) rs753538013
NM_017882.2(CLN6):c.543-9C>T rs374653673
NM_017882.2(CLN6):c.564C>A (p.Ile188=) rs371326037
NM_017882.2(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.2(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.2(CLN6):c.912C>T (p.Thr304=) rs201330867
NM_018100.3(EFHC1):c.1047A>G (p.Pro349=) rs1163603161
NM_018100.3(EFHC1):c.1059G>A (p.Arg353=) rs200024100
NM_018100.3(EFHC1):c.1279-9C>T rs143254681
NM_018100.3(EFHC1):c.1293A>C (p.Pro431=) rs1554261597
NM_018100.3(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.3(EFHC1):c.1675T>C (p.Leu559=) rs145194882
NM_018100.3(EFHC1):c.1815G>A (p.Ser605=) rs1045298708
NM_018100.3(EFHC1):c.1852-6C>G rs372507832
NM_018100.3(EFHC1):c.1866C>T (p.Cys622=) rs1554262324
NM_018100.3(EFHC1):c.678A>T (p.Pro226=) rs1060504898
NM_018100.3(EFHC1):c.90G>A (p.Thr30=) rs140429638
NM_018941.3(CLN8):c.11C>T (p.Ala4Val) rs147181589
NM_018941.3(CLN8):c.126C>T (p.Cys42=) rs192196274
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.273G>A (p.Leu91=) rs878855052
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.408T>A (p.Val136=) rs535963507
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.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_020226.3(PRDM8):c.1314C>T (p.Ala438=) rs188061449
NM_020226.3(PRDM8):c.1674T>C (p.Gly558=) rs774459714
NM_020226.3(PRDM8):c.1812G>A (p.Gln604=) rs1553906523
NM_020226.3(PRDM8):c.1968C>G (p.Pro656=) rs547453696
NM_020226.3(PRDM8):c.654G>A (p.Glu218=) rs1553905625
NM_020226.3(PRDM8):c.985C>T (p.Leu329=) rs560049733
NM_020361.4(CPA6):c.1026C>G (p.Pro342=) rs372964579
NM_020361.4(CPA6):c.505T>C (p.Tyr169His) rs201643526
NM_020361.4(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.4(CPA6):c.759G>A (p.Trp253Ter) rs139178030
NM_020361.4(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020361.4(CPA6):c.861T>C (p.Pro287=) rs1186379773
NM_020361.4(CPA6):c.916G>A (p.Val306Ile) rs147046973
NM_020361.4(CPA6):c.932G>A (p.Arg311Gln) rs143321447
NM_020822.2(KCNT1):c.1038C>T (p.Phe346=) rs767434859
NM_020822.2(KCNT1):c.1119C>T (p.His373=) rs1052932341
NM_020822.2(KCNT1):c.1258C>T (p.Leu420=) rs199996353
NM_020822.2(KCNT1):c.1284G>A (p.Arg428=) rs943112493
NM_020822.2(KCNT1):c.130G>T (p.Gly44Cys) rs773228285
NM_020822.2(KCNT1):c.1326_1327delCAinsAT (p.Met443Leu) rs1554773537
NM_020822.2(KCNT1):c.1337+7G>A rs374975940
NM_020822.2(KCNT1):c.1365C>T (p.Ile455=) rs1305510057
NM_020822.2(KCNT1):c.1380C>T (p.Asn460=) rs566700584
NM_020822.2(KCNT1):c.1422C>T (p.Arg474=) rs372250372
NM_020822.2(KCNT1):c.1431C>T (p.Ala477=) rs375534850
NM_020822.2(KCNT1):c.1443C>T (p.Phe481=) rs576446992
NM_020822.2(KCNT1):c.1511-4G>A rs368480443
NM_020822.2(KCNT1):c.1638G>A (p.Pro546=) rs138352399
NM_020822.2(KCNT1):c.1725C>T (p.Tyr575=) rs373520472
NM_020822.2(KCNT1):c.1769+8C>T rs371287985
NM_020822.2(KCNT1):c.1769+9G>A rs758402819
NM_020822.2(KCNT1):c.1788C>T (p.Ile596=) rs373444768
NM_020822.2(KCNT1):c.1803G>A (p.Glu601=) rs376892911
NM_020822.2(KCNT1):c.1806C>T (p.Asp602=) rs1060505001
NM_020822.2(KCNT1):c.1824G>A (p.Leu608=) rs764141661
NM_020822.2(KCNT1):c.1881C>T (p.Ile627=) rs1554775088
NM_020822.2(KCNT1):c.1899G>A (p.Ser633=) rs371135108
NM_020822.2(KCNT1):c.1946C>T (p.Ser649Leu) rs747671066
NM_020822.2(KCNT1):c.1947G>A (p.Ser649=) rs779903423
NM_020822.2(KCNT1):c.1963G>C (p.Glu655Gln) rs770039542
NM_020822.2(KCNT1):c.1983C>T (p.Pro661=) rs533528985
NM_020822.2(KCNT1):c.2008+7C>T rs372707698
NM_020822.2(KCNT1):c.2008+8G>A rs759334176
NM_020822.2(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.2(KCNT1):c.2034C>T (p.Gly678=) rs369983077
NM_020822.2(KCNT1):c.2049T>C (p.Pro683=) rs1234688449
NM_020822.2(KCNT1):c.2051C>T (p.Thr684Met) rs377506738
NM_020822.2(KCNT1):c.2058C>T (p.Ser686=) rs111647144
NM_020822.2(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.2(KCNT1):c.2136C>T (p.Pro712=) rs377516058
NM_020822.2(KCNT1):c.2175C>T (p.Cys725=) rs368450848
NM_020822.2(KCNT1):c.2214G>A (p.Pro738=) rs142424896
NM_020822.2(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797
NM_020822.2(KCNT1):c.2222A>G (p.Asp741Gly) rs756359375
NM_020822.2(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.2(KCNT1):c.2236G>A (p.Val746Met) rs559344618
NM_020822.2(KCNT1):c.2295C>T (p.Thr765=) rs765278495
NM_020822.2(KCNT1):c.231C>T (p.Asp77=) rs370998066
NM_020822.2(KCNT1):c.2321C>T (p.Ala774Val) rs777479133
NM_020822.2(KCNT1):c.2337G>A (p.Leu779=) rs544099606
NM_020822.2(KCNT1):c.2350-10C>T rs367855961
NM_020822.2(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.2(KCNT1):c.2454C>T (p.Ile818=) rs149452823
NM_020822.2(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.2(KCNT1):c.2568C>T (p.Val856=) rs1554777911
NM_020822.2(KCNT1):c.2594+7C>T rs545094921
NM_020822.2(KCNT1):c.2670C>T (p.Ser890=) rs765403435
NM_020822.2(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.2(KCNT1):c.279C>T (p.Asn93=) rs183022730
NM_020822.2(KCNT1):c.2847G>A (p.Glu949=) rs779429071
NM_020822.2(KCNT1):c.2856T>C (p.Asn952=) rs147671362
NM_020822.2(KCNT1):c.2895C>T (p.Ala965=) rs776550763
NM_020822.2(KCNT1):c.2898C>T (p.Ala966=) rs762968242
NM_020822.2(KCNT1):c.2916C>T (p.Ile972=) rs878855056
NM_020822.2(KCNT1):c.2949C>T (p.Phe983=) rs764574987
NM_020822.2(KCNT1):c.2997C>T (p.Asp999=) rs771951768
NM_020822.2(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020822.2(KCNT1):c.3003G>A (p.Thr1001=) rs560435329
NM_020822.2(KCNT1):c.3015G>T (p.Gly1005=) rs368875875
NM_020822.2(KCNT1):c.3036C>T (p.Ile1012=) rs201120894
NM_020822.2(KCNT1):c.3048C>T (p.Asp1016=) rs748942066
NM_020822.2(KCNT1):c.3063G>A (p.Thr1021=) rs760974671
NM_020822.2(KCNT1):c.309G>T (p.Leu103=) rs767894239
NM_020822.2(KCNT1):c.3138C>T (p.His1046=) rs138533589
NM_020822.2(KCNT1):c.3147C>T (p.Ser1049=) rs765432746
NM_020822.2(KCNT1):c.3153G>A (p.Ser1051=) rs141802876
NM_020822.2(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.2(KCNT1):c.3246C>T (p.Arg1082=) rs765774534
NM_020822.2(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458
NM_020822.2(KCNT1):c.3274C>T (p.Arg1092Cys) rs1060503695
NM_020822.2(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.2(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614
NM_020822.2(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077
NM_020822.2(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418
NM_020822.2(KCNT1):c.3387C>T (p.Ala1129=) rs372410150
NM_020822.2(KCNT1):c.3437G>A (p.Arg1146His) rs368339692
NM_020822.2(KCNT1):c.3461A>G (p.Lys1154Arg) rs779810960
NM_020822.2(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309
NM_020822.2(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425
NM_020822.2(KCNT1):c.3618C>T (p.His1206=) rs577378740
NM_020822.2(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.2(KCNT1):c.3664C>T (p.Leu1222=) rs755694160
NM_020822.2(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482
NM_020822.2(KCNT1):c.408C>T (p.Leu136=) rs370046449
NM_020822.2(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.2(KCNT1):c.541-7C>A rs1489319809
NM_020822.2(KCNT1):c.760-9C>T rs1554771446
NM_020822.2(KCNT1):c.921C>T (p.Phe307=) rs878855057
NM_020822.2(KCNT1):c.942C>T (p.Thr314=) rs144766991
NM_020822.2(KCNT1):c.94G>T (p.Gly32Cys) rs754823810
NM_020822.2(KCNT1):c.951C>T (p.Tyr317=) rs747685419
NM_020822.2(KCNT1):c.957C>T (p.Asp319=) rs148562086
NM_020822.2(KCNT1):c.981G>A (p.Ser327=) rs373317695
NM_021267.4(CERS1):c.178C>T (p.Leu60=) rs760185006
NM_021267.4(CERS1):c.258G>A (p.Ala86=) rs1038592004
NM_021267.4(CERS1):c.477T>C (p.Tyr159=) rs1426719277
NM_021267.4(CERS1):c.582C>T (p.Tyr194=) rs779941388
NM_021267.4(CERS1):c.590+9A>G rs200695801
NM_021267.4(CERS1):c.834C>T (p.Ile278=) rs781327266
NM_021267.4(CERS1):c.898C>T (p.Leu300=) rs373928623
NM_021267.4(CERS1):c.906C>T (p.Ile302=) rs377364343
NM_025219.2(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.2(DNAJC5):c.207C>T (p.Asp69=) rs760881795
NM_025219.2(DNAJC5):c.244C>T (p.Leu82=) rs1168791937
NM_025219.2(DNAJC5):c.282C>T (p.Asn94=) rs113207069
NM_025219.2(DNAJC5):c.322-5C>G rs373568941
NM_025219.2(DNAJC5):c.327G>C (p.Leu109=) rs1555880229
NM_025219.2(DNAJC5):c.339C>T (p.Cys113=) rs886043295
NM_025219.2(DNAJC5):c.342C>T (p.Gly114=) rs746279787
NM_025219.2(DNAJC5):c.419C>T (p.Ala140Val) rs144915847
NM_025219.2(DNAJC5):c.420G>A (p.Ala140=) rs568985915
NM_025219.2(DNAJC5):c.504C>T (p.Asp168=) rs886056935
NM_025219.2(DNAJC5):c.525G>A (p.Pro175=) rs373237152
NM_025219.2(DNAJC5):c.561C>T (p.Asp187=) rs776807695
NM_032737.3(LMNB2):c.1029C>T (p.Ala343=) rs749052582
NM_032737.3(LMNB2):c.1332C>T (p.Pro444=) rs998616364
NM_032737.3(LMNB2):c.1344C>T (p.Gly448=) rs144665669
NM_032737.3(LMNB2):c.1363G>C (p.Gly455Arg) rs772769360
NM_032737.3(LMNB2):c.1575C>T (p.Ala525=) rs140216957
NM_032737.3(LMNB2):c.1698C>T (p.Asn566=) rs147619532
NM_032737.3(LMNB2):c.1707C>T (p.Gly569=) rs372581793
NM_032737.3(LMNB2):c.1776G>A (p.Glu592=) rs1555682686
NM_032737.3(LMNB2):c.264+7G>T rs748398790
NM_032737.3(LMNB2):c.815G>A (p.Arg272Gln) rs142557433
NM_032737.3(LMNB2):c.855+8C>T rs375918278
NM_032737.3(LMNB2):c.856-8C>T rs766316644
NM_032737.3(LMNB2):c.906G>A (p.Ala302=) rs144417417
NM_032737.3(LMNB2):c.982-4G>A rs370025312
NM_152778.2(MFSD8):c.1320A>G (p.Leu440=) rs148864710
NM_152778.2(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_152778.2(MFSD8):c.155-9delT rs1060504501
NM_152778.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.2(MFSD8):c.270T>A (p.Ala90=) rs754809138
NM_152778.2(MFSD8):c.435A>C (p.Gly145=) rs781299975
NM_152778.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073
NM_152778.2(MFSD8):c.63-4C>T rs764964269
NM_152778.2(MFSD8):c.63-4delC rs755011754
NM_152778.2(MFSD8):c.78A>G (p.Leu26=) rs770986122
NM_152778.2(MFSD8):c.813C>T (p.Ala271=) rs768499490
NM_152778.2(MFSD8):c.840A>G (p.Leu280=) rs199982542
NM_153026.2(PRICKLE1):c.113C>T (p.Pro38Leu) rs145493619
NM_153026.2(PRICKLE1):c.1284T>C (p.Phe428=) rs183742526
NM_153026.2(PRICKLE1):c.1640-7C>T rs1555229472
NM_153026.2(PRICKLE1):c.1686T>G (p.Ser562=) rs955717976
NM_153026.2(PRICKLE1):c.1989T>C (p.Phe663=) rs1555229340
NM_153026.2(PRICKLE1):c.198G>A (p.Lys66=) rs1256250717
NM_153026.2(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979
NM_153026.2(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604
NM_153026.2(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042
NM_153026.2(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.2(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511
NM_153026.2(PRICKLE1):c.249A>G (p.Val83=) rs763029790
NM_153026.2(PRICKLE1):c.276G>A (p.Glu92=) rs1555230725
NM_153026.2(PRICKLE1):c.423C>T (p.Phe141=) rs746728526
NM_153026.2(PRICKLE1):c.444T>G (p.Gly148=) rs1060504780
NM_153026.2(PRICKLE1):c.471C>T (p.Val157=) rs201613485
NM_153026.2(PRICKLE1):c.480G>A (p.Thr160=) rs376385820
NM_153026.2(PRICKLE1):c.498C>G (p.Val166=) rs1555230606
NM_153026.2(PRICKLE1):c.861T>C (p.Ser287=) rs537302175
NM_153026.2(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153033.4(KCTD7):c.133C>T (p.Leu45=) rs587780370
NM_153033.4(KCTD7):c.145-4C>T rs368755155
NM_153033.4(KCTD7):c.15G>C (p.Thr5=) rs1410806588
NM_153033.4(KCTD7):c.192A>G (p.Thr64=) rs142526573
NM_153033.4(KCTD7):c.264C>T (p.Pro88=) rs985251877
NM_153033.4(KCTD7):c.273C>T (p.Ser91=) rs139585796
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.456G>A (p.Val152=) rs796052686
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.687T>C (p.Asp229=) rs372150992
NM_153033.4(KCTD7):c.750G>C (p.Thr250=) rs374256335
NM_198586.2(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544
NM_198586.2(NHLRC1):c.228G>T (p.Arg76=) rs1409114977
NM_198586.2(NHLRC1):c.27G>A (p.Gly9=) rs765575310
NM_198586.2(NHLRC1):c.422T>C (p.Val141Ala) rs143537405
NM_198586.2(NHLRC1):c.46A>G (p.Met16Val) rs146636139
NM_198586.2(NHLRC1):c.513C>T (p.Ala171=) rs148907696
NM_198586.2(NHLRC1):c.642A>G (p.Gln214=) rs754756237
NM_198586.2(NHLRC1):c.882G>T (p.Val294=) rs1314207581
NM_198586.2(NHLRC1):c.990G>A (p.Gln330=) rs148553723
NM_198859.3(PRICKLE2):c.1311C>G (p.Ala437=) rs140374952
NM_198859.3(PRICKLE2):c.1593G>A (p.Glu531=) rs1337013281
NM_198859.3(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200
NM_198859.3(PRICKLE2):c.2220C>T (p.Ser740=) rs867670809
NM_198859.3(PRICKLE2):c.397-8C>T rs762192312
NM_198859.3(PRICKLE2):c.471G>A (p.Pro157=) rs777067889
NM_198859.3(PRICKLE2):c.594C>T (p.Cys198=) rs367680077
NM_198859.3(PRICKLE2):c.72G>A (p.Ser24=) rs888655219

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