ClinVar Miner

List of variants reported as pathogenic for childhood-onset epilepsy syndrome by Invitae

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 926
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HGVS dbSNP gnomAD frequency
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108 0.00006
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp) rs1360906241 0.00003
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter) rs200535620 0.00003
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter) rs796052504 0.00003
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001134407.3(GRIN2A):c.2289T>G (p.Ile763Met) rs1903130042 0.00001
NM_001161352.2(KCNMA1):c.70_73del (p.Leu23_Arg24insTer) rs2093893902 0.00001
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001242896.3(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224 0.00001
NM_003042.4(SLC6A1):c.199G>A (p.Val67Ile) rs1479789276 0.00001
NM_003042.4(SLC6A1):c.787G>A (p.Gly263Arg) rs1574906609 0.00001
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) rs1380954046 0.00001
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter) rs764802895 0.00001
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter) rs1027289865 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.704+1G>A rs886041076 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005670.4(EPM2A):c.301+1G>T rs1361221383 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_020822.3(KCNT1):c.2012C>T (p.Thr671Ile) rs1832838063 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys) rs141191660 0.00001
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter) rs1334776746 0.00001
NC_000003.11:g.(?_10094051)_(11078652_?)del
NC_000003.11:g.(?_11058898)_(11062028_?)del
NC_000003.11:g.(?_11058898)_(11064174_?)del
NC_000003.11:g.(?_11067270)_(11069305_?)del
NC_000003.12:g.11031181dup
NC_000004.11:g.(?_76481293)_(77700330_?)del
NC_000004.12:g.76163382CT[1]
NC_000005.10:g.(?_162066642)_(162156539_?)del
NC_000005.10:g.(?_162067980)_(162068126_?)del
NC_000005.10:g.(?_162101215)_(162104046_?)del
NC_000005.10:g.(?_162101225)_(162153368_?)del
NC_000005.9:g.(?_161495006)_(161495132_?)del
NC_000005.9:g.(?_161495006)_(161528343_?)del
NC_000005.9:g.(?_161495006)_(161531052_?)del
NC_000005.9:g.(?_161495006)_(161569342_?)del
NC_000005.9:g.(?_161495006)_(161580374_?)del
NC_000005.9:g.(?_161520814)_(161580374_?)del
NC_000005.9:g.(?_161530875)_(161580374_?)del
NC_000005.9:g.(?_161569150)_(161580374_?)del
NC_000006.11:g.(?_145948552)_(145956642_?)del
NC_000006.11:g.(?_146056334)_(146056634_?)del
NC_000006.11:g.(?_18121650)_(18149358_?)del
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NC_000007.13:g.(?_102937907)_(103629803_?)del
NC_000007.13:g.(?_103389853)_(103474139_?)del
NC_000007.13:g.(?_66094052)_(66104219_?)del
NC_000007.13:g.(?_66103220)_(66104219_?)del
NC_000007.14:g.(?_66629045)_(66640414_?)del
NC_000007.14:g.(?_66638233)_(66639252_?)del
NC_000010.10:g.(?_78998319)_(79163801_?)del
NC_000010.10:g.(?_95517882)_(95537394_?)del
NC_000010.10:g.(?_95517902)_(95518136_?)del
NC_000010.11:g.(?_93161309)_(93797823_?)del
NC_000015.10:g.(?_92901218)_(92901319_?)del
NC_000015.10:g.(?_92901218)_(93040513_?)del
NC_000015.10:g.(?_92929010)_(92929111_?)del
NC_000015.10:g.(?_92939558)_(92944535_?)del
NC_000015.10:g.(?_92967305)_(93012464_?)del
NC_000015.10:g.(?_92996937)_(93014929_?)del
NC_000015.9:g.(?_93444468)_(93536248_?)del
NC_000015.9:g.(?_93444468)_(93583743_?)del
NC_000015.9:g.(?_93485032)_(93515667_?)del
NC_000015.9:g.(?_93489031)_(93489466_?)del
NC_000015.9:g.(?_93514985)_(93518190_?)del
NC_000015.9:g.(?_93521444)_(93522533_?)del
NC_000015.9:g.(?_93528708)_(93528923_?)del
NC_000016.10:g.(?_100352)_(100529_?)del
NC_000016.10:g.(?_130502)_(130611_?)del
NC_000016.10:g.(?_130502)_(138287_?)del
NC_000016.10:g.(?_138130)_(138287_?)del
NC_000016.10:g.(?_89693)_(100529_?)del
NC_000016.10:g.(?_9798257)_(9849981_?)del
NC_000016.10:g.(?_98125)_(100529_?)del
NC_000016.10:g.(?_9829403)_(9829672_?)del
NC_000016.10:g.(?_9849736)_(9849981_?)del
NC_000016.10:g.(?_9890966)_(10180431_?)del
NC_000016.10:g.(?_9890966)_(9891120_?)del
NC_000016.10:g.92726del rs2141908063
NC_000016.9:g.(?_10031796)_(10032428_?)del
NC_000016.9:g.(?_10273835)_(10274268_?)del
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_10273845)_(10274268_?)del
NC_000016.9:g.(?_136684)_(162794_?)del
NC_000016.9:g.(?_136684)_(169274_?)del
NC_000016.9:g.(?_136684)_(188286_?)del
NC_000016.9:g.(?_136705)_(139740_?)del
NC_000016.9:g.(?_138677)_(143343_?)del
NC_000016.9:g.(?_138677)_(188286_?)del
NC_000016.9:g.(?_142574)_(150527_?)del
NC_000016.9:g.(?_142584)_(188266_?)del
NC_000016.9:g.(?_143197)_(150527_?)del
NC_000016.9:g.(?_143302)_(152085_?)del
NC_000016.9:g.(?_148123)_(188286_?)del
NC_000016.9:g.(?_148133)_(188266_?)del
NC_000016.9:g.(?_150360)_(150517_?)del
NC_000016.9:g.(?_160503)_(160624_?)del
NC_000016.9:g.(?_160503)_(162794_?)del
NC_000016.9:g.(?_160503)_(180610_?)del
NC_000016.9:g.(?_160503)_(188266_?)del
NC_000016.9:g.(?_160513)_(180600_?)del
NC_000016.9:g.(?_162601)_(162794_?)del
NC_000016.9:g.(?_162601)_(188266_?)del
NC_000016.9:g.(?_167290)_(188266_?)del
NC_000016.9:g.(?_169105)_(188266_?)del
NC_000016.9:g.(?_169115)_(169264_?)del
NC_000016.9:g.(?_188129)_(188266_?)del
NC_000016.9:g.(?_188129)_(193701_?)del
NC_000016.9:g.(?_9857006)_(10032428_?)del
NC_000016.9:g.(?_9857006)_(10274268_?)del
NC_000016.9:g.(?_9857006)_(9862956_?)del
NC_000016.9:g.(?_9916101)_(9923529_?)dup
NC_000016.9:g.(?_9916111)_(9916291_?)del
NC_000016.9:g.(?_9934484)_(9934981_?)del
NC_000016.9:g.(?_9984833)_(9984967_?)del
NC_000017.10:g.(?_44845686)_(45016126_?)del
NC_000017.11:g.(?_46923173)_(46940633_?)del
NC_000021.8:g.(?_43160998)_(47754702_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)del
NC_000021.8:g.(?_45194083)_(45196150_?)del
NC_000022.10:g.(?_32150888)_(32162674_?)del
NC_000022.10:g.(?_32150888)_(32164869_?)del
NC_000022.10:g.(?_32150888)_(32188823_?)del
NC_000022.10:g.(?_32150908)_(32156708_?)del
NC_000022.10:g.(?_32150908)_(32164869_?)del
NC_000022.10:g.(?_32150908)_(32174174_?)del
NC_000022.10:g.(?_32150908)_(32193709_?)del
NC_000022.10:g.(?_32150908)_(32211218_?)del
NC_000022.10:g.(?_32150908)_(32293659_?)del
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.(?_32160941)_(32161066_?)del
NC_000022.10:g.(?_32164780)_(32164869_?)del
NC_000022.10:g.(?_32174065)_(32180881_?)del
NC_000022.10:g.(?_32179873)_(32179991_?)del
NC_000022.10:g.(?_32179873)_(32193709_?)del
NC_000022.10:g.(?_32180780)_(32302503_?)del
NC_000022.10:g.(?_32187999)_(32188823_?)del
NC_000022.10:g.(?_32188019)_(32194642_?)del
NC_000022.10:g.(?_32188404)_(32191244_?)del
NC_000022.10:g.(?_32193566)_(32194662_?)del
NC_000022.10:g.(?_32205577)_(32206647_?)del
NC_000022.10:g.(?_32229881)_(32257439_?)del
NC_000022.10:g.(?_32234651)_(32234851_?)del
NC_000022.10:g.(?_32239061)_(32239818_?)del
NC_000022.10:g.(?_32239061)_(32241243_?)del
NC_000022.10:g.(?_32301950)_(32302483_?)del
NC_000022.10:g.(?_32301960)_(32302483_?)del
NC_000022.11:g.(?_31754902)_(31784895_?)del
NC_000022.11:g.(?_31754902)_(31815232_?)del
NC_000022.11:g.(?_31754902)_(31815449_?)del
NC_000022.11:g.(?_31754902)_(31906517_?)del
NC_000022.11:g.(?_31758526)_(31758653_?)del
NC_000022.11:g.(?_31760636)_(31760722_?)del
NC_000022.11:g.(?_31764955)_(31766688_?)del
NC_000022.11:g.(?_31764955)_(31768883_?)dup
NC_000022.11:g.(?_31792013)_(31792122_?)del
NC_000022.11:g.(?_31804142)_(31810661_?)del
NC_000022.11:g.(?_31809591)_(31815232_?)del
NC_000022.11:g.31804164_31804174dup
NM_000100.4(CSTB):c.121del (p.Val41fs) rs1257171692
NM_000100.4(CSTB):c.145del (p.Ala49fs)
NM_000100.4(CSTB):c.200_203dup (p.Val69fs) rs1601855887
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) rs281865070
NM_001039476.1(NPRL3):c.931=
NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs) rs1898837245
NM_001077350.3(NPRL3):c.1034del (p.Tyr345fs)
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs) rs886037962
NM_001077350.3(NPRL3):c.1078del (p.Asp360fs)
NM_001077350.3(NPRL3):c.1093del (p.Ala366fs)
NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter) rs1371859768
NM_001077350.3(NPRL3):c.1159del (p.Glu387fs)
NM_001077350.3(NPRL3):c.1174C>T (p.Gln392Ter) rs2141902592
NM_001077350.3(NPRL3):c.1178dup (p.Met393fs) rs2141902589
NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs) rs1898686157
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter) rs1898688345
NM_001077350.3(NPRL3):c.1255G>T (p.Glu419Ter)
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs) rs1567129567
NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs) rs1898675878
NM_001077350.3(NPRL3):c.1372del (p.Leu458fs) rs1898627430
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter) rs1021001959
NM_001077350.3(NPRL3):c.1427del (p.Ser476fs)
NM_001077350.3(NPRL3):c.1480G>T (p.Glu494Ter) rs2141899833
NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs) rs1555439541
NM_001077350.3(NPRL3):c.15del (p.Ser6fs) rs2141995568
NM_001077350.3(NPRL3):c.169G>T (p.Glu57Ter)
NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter) rs1900181500
NM_001077350.3(NPRL3):c.258del (p.Lys87fs) rs2141960699
NM_001077350.3(NPRL3):c.269del (p.Asn90fs)
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.280del (p.Val94fs) rs2141960644
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001077350.3(NPRL3):c.318+1G>A rs2141960559
NM_001077350.3(NPRL3):c.341del (p.Pro114fs) rs1596526976
NM_001077350.3(NPRL3):c.349del (p.Glu117fs) rs1900088045
NM_001077350.3(NPRL3):c.377del (p.Val126fs) rs1596526915
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.434_453del (p.Leu145fs)
NM_001077350.3(NPRL3):c.44del (p.Ser15fs) rs1901211202
NM_001077350.3(NPRL3):c.460C>T (p.Gln154Ter) rs2141950212
NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter) rs1899868619
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter) rs1596522300
NM_001077350.3(NPRL3):c.518dup (p.Gln174fs) rs2141950064
NM_001077350.3(NPRL3):c.526G>T (p.Glu176Ter)
NM_001077350.3(NPRL3):c.562C>T (p.Gln188Ter)
NM_001077350.3(NPRL3):c.622del (p.Tyr208fs) rs2141946070
NM_001077350.3(NPRL3):c.644del (p.Gly215fs) rs1899234101
NM_001077350.3(NPRL3):c.667_670del (p.Ser223fs)
NM_001077350.3(NPRL3):c.726dup (p.Ile243fs) rs2141925225
NM_001077350.3(NPRL3):c.745G>T (p.Glu249Ter) rs200041907
NM_001077350.3(NPRL3):c.763_766dup (p.Arg256fs)
NM_001077350.3(NPRL3):c.767+1G>T rs1567134495
NM_001077350.3(NPRL3):c.767+1del rs2141925052
NM_001077350.3(NPRL3):c.781del (p.Leu261fs)
NM_001077350.3(NPRL3):c.78C>A (p.Tyr26Ter) rs2141995468
NM_001077350.3(NPRL3):c.799G>T (p.Glu267Ter)
NM_001077350.3(NPRL3):c.85C>T (p.Gln29Ter)
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs) rs1555441032
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His) rs1596505517
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter) rs1898844513
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter) rs1567152003
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter) rs1596500172
NM_001077350.3(NPRL3):c.975del (p.Tyr326fs)
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met) rs2133805364
NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1007+1G>T rs397518465
NM_001134407.3(GRIN2A):c.1045_1051del (p.Ser349fs)
NM_001134407.3(GRIN2A):c.1115G>A (p.Trp372Ter) rs1555501093
NM_001134407.3(GRIN2A):c.1123-1G>A rs2042854251
NM_001134407.3(GRIN2A):c.1134G>A (p.Trp378Ter) rs1555496202
NM_001134407.3(GRIN2A):c.1194del (p.Cys399fs) rs2141369731
NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs) rs2042851617
NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs) rs2042850660
NM_001134407.3(GRIN2A):c.1285T>C (p.Cys429Arg)
NM_001134407.3(GRIN2A):c.1289_1292dup (p.Arg431fs)
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1425C>G (p.Tyr475Ter) rs774228933
NM_001134407.3(GRIN2A):c.1475_1478del (p.Val492fs)
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>T rs2141344569
NM_001134407.3(GRIN2A):c.1497+2T>C rs2042665950
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu) rs267604688
NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter) rs1555494686
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1639T>C (p.Ser547Pro)
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) rs1596483044
NM_001134407.3(GRIN2A):c.1651+2T>A rs2141341781
NM_001134407.3(GRIN2A):c.1651G>T (p.Glu551Ter)
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001134407.3(GRIN2A):c.1673G>C (p.Trp558Ser) rs1555493585
NM_001134407.3(GRIN2A):c.1691T>G (p.Met564Arg) rs2141325573
NM_001134407.3(GRIN2A):c.1702del (p.Val568fs) rs2141325493
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1747G>T (p.Gly583Ter)
NM_001134407.3(GRIN2A):c.1790del (p.Pro597fs)
NM_001134407.3(GRIN2A):c.1827G>A (p.Trp609Ter) rs1555492790
NM_001134407.3(GRIN2A):c.1831C>A (p.Leu611Met) rs2141312814
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1847C>T (p.Ser616Phe)
NM_001134407.3(GRIN2A):c.1871_1884del (p.Gly624fs)
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.2023_2027del (p.Asp675fs)
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2079C>G (p.Asn693Lys)
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr) rs2141294911
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2224del (p.Asp742fs)
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) rs776791010
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2526C>G (p.Tyr842Ter)
NM_001134407.3(GRIN2A):c.2776del (p.Gln926fs) rs1596377481
NM_001134407.3(GRIN2A):c.2793del (p.Met932fs) rs1596377439
NM_001134407.3(GRIN2A):c.2833_2834insTTCAG (p.Asp945fs) rs2141136701
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3025A>T (p.Arg1009Ter)
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134407.3(GRIN2A):c.3163del (p.Glu1055fs)
NM_001134407.3(GRIN2A):c.316C>T (p.Gln106Ter)
NM_001134407.3(GRIN2A):c.3304G>T (p.Glu1102Ter)
NM_001134407.3(GRIN2A):c.3609del (p.Ser1204fs)
NM_001134407.3(GRIN2A):c.3693dup (p.Ser1232fs) rs2141130040
NM_001134407.3(GRIN2A):c.3887del (p.Val1296fs) rs1900702353
NM_001134407.3(GRIN2A):c.4330del (p.Val1444fs)
NM_001134407.3(GRIN2A):c.460C>T (p.Gln154Ter) rs1555455815
NM_001134407.3(GRIN2A):c.476del (p.Leu159fs)
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) rs1596587476
NM_001134407.3(GRIN2A):c.59_66del (p.Gly20fs)
NM_001134407.3(GRIN2A):c.645del (p.Gln216fs) rs2141631751
NM_001134407.3(GRIN2A):c.806del (p.Pro269fs)
NM_001134407.3(GRIN2A):c.809_810del (p.Lys270fs)
NM_001134407.3(GRIN2A):c.812_813del (p.Glu271fs) rs2141630590
NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter) rs1555455620
NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter) rs1555455618
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs) rs1555491538
NM_001161352.2(KCNMA1):c.1284del (p.Leu429fs) rs2153792334
NM_001161352.2(KCNMA1):c.1869del (p.Phe623fs)
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter) rs2065361594
NM_001161352.2(KCNMA1):c.2521del (p.His841fs) rs2152944295
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs) rs2063502424
NM_001161352.2(KCNMA1):c.302dup (p.Leu102fs) rs753408207
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1111G>T (p.Glu371Ter)
NM_001242896.3(DEPDC5):c.1121_1122dup (p.His375fs) rs2087209471
NM_001242896.3(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242896.3(DEPDC5):c.1139del (p.Phe380fs) rs2148649693
NM_001242896.3(DEPDC5):c.1155del (p.Ser386fs)
NM_001242896.3(DEPDC5):c.1191T>A (p.Tyr397Ter) rs1320510912
NM_001242896.3(DEPDC5):c.1206G>A (p.Trp402Ter)
NM_001242896.3(DEPDC5):c.1218-1G>A rs2087504321
NM_001242896.3(DEPDC5):c.1218-1G>C rs2087504321
NM_001242896.3(DEPDC5):c.1224C>A (p.Tyr408Ter) rs1602010382
NM_001242896.3(DEPDC5):c.1235del (p.Ser412fs)
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.1366C>T (p.Gln456Ter) rs2148707379
NM_001242896.3(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer) rs1555882921
NM_001242896.3(DEPDC5):c.1397del (p.Val466fs)
NM_001242896.3(DEPDC5):c.1401del (p.Phe467fs) rs2148707724
NM_001242896.3(DEPDC5):c.1431C>A (p.Cys477Ter) rs2148708041
NM_001242896.3(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242896.3(DEPDC5):c.1465_1466del (p.His490fs)
NM_001242896.3(DEPDC5):c.1488del (p.Ser497fs)
NM_001242896.3(DEPDC5):c.1493_1500del (p.Cys498fs)
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.158del (p.Leu53fs) rs2148027425
NM_001242896.3(DEPDC5):c.1699C>T (p.Arg567Ter)
NM_001242896.3(DEPDC5):c.1736_1743del (p.Ser579fs) rs2148801562
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.3(DEPDC5):c.176dup (p.Glu60fs) rs2148027688
NM_001242896.3(DEPDC5):c.1774_1775del (p.Thr592fs)
NM_001242896.3(DEPDC5):c.178del (p.Glu60fs) rs2148027711
NM_001242896.3(DEPDC5):c.1800del (p.Phe601fs) rs2148802008
NM_001242896.3(DEPDC5):c.1834_1835del (p.Ser612fs)
NM_001242896.3(DEPDC5):c.1845del (p.Arg615fs) rs1060501487
NM_001242896.3(DEPDC5):c.187C>T (p.Gln63Ter) rs372718805
NM_001242896.3(DEPDC5):c.1891C>T (p.Gln631Ter) rs2148821385
NM_001242896.3(DEPDC5):c.193+1G>A rs886039245
NM_001242896.3(DEPDC5):c.1948del (p.Asp650fs)
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs) rs1372605067
NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs) rs2082694133
NM_001242896.3(DEPDC5):c.2023C>T (p.Gln675Ter)
NM_001242896.3(DEPDC5):c.208_209del (p.Asp70fs) rs2148103087
NM_001242896.3(DEPDC5):c.2094dup (p.Ser699fs) rs2148830445
NM_001242896.3(DEPDC5):c.211C>T (p.Gln71Ter) rs2148103123
NM_001242896.3(DEPDC5):c.212dup (p.Thr72fs) rs2148103177
NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs) rs2148103243
NM_001242896.3(DEPDC5):c.2196dup (p.Val733fs) rs2148952560
NM_001242896.3(DEPDC5):c.2275_2281del (p.Tyr759fs) rs2148953095
NM_001242896.3(DEPDC5):c.2304_2305dup (p.Asp769fs) rs2148953333
NM_001242896.3(DEPDC5):c.231_232dup (p.Arg78fs)
NM_001242896.3(DEPDC5):c.2325T>A (p.Tyr775Ter) rs374158137
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs) rs2082695884
NM_001242896.3(DEPDC5):c.232dup (p.Arg78fs)
NM_001242896.3(DEPDC5):c.239_245dup (p.Tyr82Ter)
NM_001242896.3(DEPDC5):c.2433C>A (p.Tyr811Ter)
NM_001242896.3(DEPDC5):c.247C>T (p.Gln83Ter) rs2148103774
NM_001242896.3(DEPDC5):c.2489_2511del (p.Leu830fs) rs2148968890
NM_001242896.3(DEPDC5):c.2489del (p.Leu830fs) rs2148968909
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2548dup (p.Asp850fs) rs2149004143
NM_001242896.3(DEPDC5):c.2591_2592insCA (p.Leu865fs)
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.3(DEPDC5):c.2690C>A (p.Ser897Ter)
NM_001242896.3(DEPDC5):c.2702_2705del (p.Phe901fs)
NM_001242896.3(DEPDC5):c.2768_2775del (p.Gln923fs) rs2149009589
NM_001242896.3(DEPDC5):c.279+1G>A rs886039246
NM_001242896.3(DEPDC5):c.280-1G>A rs1556526609
NM_001242896.3(DEPDC5):c.280-2A>G rs2148127827
NM_001242896.3(DEPDC5):c.2826G>A (p.Trp942Ter) rs2091643419
NM_001242896.3(DEPDC5):c.2856T>A (p.Cys952Ter) rs115299174
NM_001242896.3(DEPDC5):c.2857_2858del (p.Val953fs) rs2091645809
NM_001242896.3(DEPDC5):c.2887dup (p.Glu963fs) rs2149024046
NM_001242896.3(DEPDC5):c.2894_2919del (p.His965fs) rs1555900914
NM_001242896.3(DEPDC5):c.2898C>A (p.Cys966Ter) rs748986619
NM_001242896.3(DEPDC5):c.2907T>G (p.Tyr969Ter)
NM_001242896.3(DEPDC5):c.2940G>A (p.Trp980Ter)
NM_001242896.3(DEPDC5):c.2958_2959insTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATGGTTTT (p.Val987delinsPhePhePhePhePheXaaXaaXaaXaaPhePhePhePhePhePhePhePhePheTer) rs2149024566
NM_001242896.3(DEPDC5):c.2989del (p.Arg997fs) rs2149024925
NM_001242896.3(DEPDC5):c.2994del (p.Arg998fs)
NM_001242896.3(DEPDC5):c.3005C>A (p.Ser1002Ter) rs2149025148
NM_001242896.3(DEPDC5):c.3021+2T>G
NM_001242896.3(DEPDC5):c.305dup (p.Leu102fs) rs2148128199
NM_001242896.3(DEPDC5):c.3095del (p.Pro1032fs) rs2091769406
NM_001242896.3(DEPDC5):c.3159C>A (p.Cys1053Ter) rs1162414657
NM_001242896.3(DEPDC5):c.3176_3177del (p.Ala1059fs)
NM_001242896.3(DEPDC5):c.319C>T (p.Gln107Ter) rs2082841677
NM_001242896.3(DEPDC5):c.3205C>T (p.Gln1069Ter) rs2149117486
NM_001242896.3(DEPDC5):c.324T>G (p.Tyr108Ter) rs2148128349
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.3260dup (p.Asp1089fs)
NM_001242896.3(DEPDC5):c.3278_3279del (p.Phe1093fs)
NM_001242896.3(DEPDC5):c.327del (p.Ile109fs) rs2148128390
NM_001242896.3(DEPDC5):c.338del (p.Asp113fs)
NM_001242896.3(DEPDC5):c.3436C>T (p.Gln1146Ter) rs2092816377
NM_001242896.3(DEPDC5):c.3449_3450del (p.Glu1150fs) rs2149231471
NM_001242896.3(DEPDC5):c.344G>A (p.Trp115Ter)
NM_001242896.3(DEPDC5):c.3451C>T (p.Gln1151Ter)
NM_001242896.3(DEPDC5):c.345G>A (p.Trp115Ter)
NM_001242896.3(DEPDC5):c.3547del (p.Ala1183fs) rs1569166925
NM_001242896.3(DEPDC5):c.3578del (p.Leu1193fs) rs1309891064
NM_001242896.3(DEPDC5):c.357_358del (p.Ser120fs)
NM_001242896.3(DEPDC5):c.3638G>A (p.Trp1213Ter) rs2149256695
NM_001242896.3(DEPDC5):c.3655dup (p.Glu1219fs) rs2092933941
NM_001242896.3(DEPDC5):c.3717dup (p.Ile1240fs) rs2149267082
NM_001242896.3(DEPDC5):c.3723dup (p.His1242fs) rs2149267113
NM_001242896.3(DEPDC5):c.3774C>G (p.Tyr1258Ter)
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.3868C>T (p.Gln1290Ter) rs1569186093
NM_001242896.3(DEPDC5):c.3926del (p.Pro1309fs)
NM_001242896.3(DEPDC5):c.3945G>A (p.Trp1315Ter)
NM_001242896.3(DEPDC5):c.3987_3988insA (p.Phe1330fs)
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4031T>G (p.Leu1344Ter)
NM_001242896.3(DEPDC5):c.4085del (p.Asn1362fs)
NM_001242896.3(DEPDC5):c.4102G>T (p.Glu1368Ter)
NM_001242896.3(DEPDC5):c.4122C>A (p.Tyr1374Ter) rs939021094
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.3(DEPDC5):c.4207C>T (p.Gln1403Ter) rs1602903591
NM_001242896.3(DEPDC5):c.4242_4243dup (p.Leu1415fs) rs2149397188
NM_001242896.3(DEPDC5):c.4287C>A (p.Tyr1429Ter)
NM_001242896.3(DEPDC5):c.4290del (p.Tyr1431fs) rs2149397518
NM_001242896.3(DEPDC5):c.4291_4294del (p.Tyr1431fs) rs2093575654
NM_001242896.3(DEPDC5):c.4303dup (p.Leu1435fs)
NM_001242896.3(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242896.3(DEPDC5):c.4357dup (p.Ser1453fs) rs2149397818
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter) rs886039273
NM_001242896.3(DEPDC5):c.4398G>A (p.Trp1466Ter) rs2149419668
NM_001242896.3(DEPDC5):c.4402C>T (p.Arg1468Ter) rs1016477183
NM_001242896.3(DEPDC5):c.4420G>T (p.Glu1474Ter)
NM_001242896.3(DEPDC5):c.4446dup (p.Val1483fs) rs1603014297
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter) rs1603014708
NM_001242896.3(DEPDC5):c.4501_4502dup (p.Gln1501fs) rs1569254004
NM_001242896.3(DEPDC5):c.4508_4511dup (p.Val1505fs)
NM_001242896.3(DEPDC5):c.4519+1G>A rs1555942720
NM_001242896.3(DEPDC5):c.4530del (p.Leu1511fs) rs2093755806
NM_001242896.3(DEPDC5):c.4544_4545del (p.Tyr1515fs)
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.3(DEPDC5):c.4570C>T (p.Gln1524Ter)
NM_001242896.3(DEPDC5):c.4630del (p.Val1544fs) rs1569255443
NM_001242896.3(DEPDC5):c.4638del (p.Gly1545_Tyr1546insTer)
NM_001242896.3(DEPDC5):c.4650C>G (p.Tyr1550Ter) rs2093758918
NM_001242896.3(DEPDC5):c.4671_4672del (p.Trp1558fs) rs2149449522
NM_001242896.3(DEPDC5):c.4689_4690del (p.Gly1564_Asp1565insTer) rs2149449670
NM_001242896.3(DEPDC5):c.492dup (p.Arg165fs)
NM_001242896.3(DEPDC5):c.522_525del (p.Ile175fs)
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242896.3(DEPDC5):c.562+1G>A rs1057524233
NM_001242896.3(DEPDC5):c.624+1G>A rs886039252
NM_001242896.3(DEPDC5):c.674dup (p.Tyr226fs)
NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter) rs2085727988
NM_001242896.3(DEPDC5):c.678T>G (p.Tyr226Ter)
NM_001242896.3(DEPDC5):c.697G>T (p.Glu233Ter)
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.3(DEPDC5):c.722C>G (p.Ser241Ter)
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.3(DEPDC5):c.765C>G (p.Tyr255Ter)
NM_001242896.3(DEPDC5):c.784G>T (p.Glu262Ter)
NM_001242896.3(DEPDC5):c.788_789del (p.Arg263fs) rs1569523728
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs) rs1601925213
NM_001242896.3(DEPDC5):c.800G>A (p.Trp267Ter) rs2148574616
NM_001242896.3(DEPDC5):c.832_833del (p.Phe278fs) rs2086398901
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.3(DEPDC5):c.862G>T (p.Glu288Ter) rs770620001
NM_001242896.3(DEPDC5):c.862del (p.Glu288fs) rs2148575334
NM_001242896.3(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001242896.3(DEPDC5):c.883C>T (p.Gln295Ter) rs2148587476
NM_001242896.3(DEPDC5):c.907del (p.Gln303fs)
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001242896.3(DEPDC5):c.991C>T (p.Gln331Ter)
NM_001271.4(CHD2):c.1011dup (p.Leu338fs)
NM_001271.4(CHD2):c.1032dup (p.Glu345fs) rs2053406905
NM_001271.4(CHD2):c.1052+2T>C rs2141787733
NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter) rs1555439714
NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter) rs1555439719
NM_001271.4(CHD2):c.1096C>T (p.Gln366Ter)
NM_001271.4(CHD2):c.1099C>T (p.Gln367Ter) rs2053431103
NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer) rs1567136357
NM_001271.4(CHD2):c.1196del (p.Pro399fs)
NM_001271.4(CHD2):c.11_14del (p.Asn4fs)
NM_001271.4(CHD2):c.121del (p.Gln41fs)
NM_001271.4(CHD2):c.1311_1318del (p.Phe437fs)
NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer) rs1567138270
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1430del (p.Tyr476_Leu477insTer)
NM_001271.4(CHD2):c.1453C>T (p.Arg485Ter) rs1567138301
NM_001271.4(CHD2):c.1497del (p.Trp499fs) rs2141802578
NM_001271.4(CHD2):c.1504_1505delAA (p.Lys501_Asn502insTer)
NM_001271.4(CHD2):c.1541dup (p.Thr516fs) rs2053579191
NM_001271.4(CHD2):c.1575C>A (p.Tyr525Ter)
NM_001271.4(CHD2):c.1637_1638del (p.Thr546fs) rs2141811616
NM_001271.4(CHD2):c.1645C>T (p.Gln549Ter)
NM_001271.4(CHD2):c.1650_1653del (p.Arg550fs) rs886041628
NM_001271.4(CHD2):c.1719G>A (p.Thr573=) rs1057519228
NM_001271.4(CHD2):c.1754_1785del (p.Lys585fs) rs2053606835
NM_001271.4(CHD2):c.1787_1788del (p.Thr595_Tyr596insTer) rs2141814886
NM_001271.4(CHD2):c.1814_1815del (p.Val605fs) rs2141816511
NM_001271.4(CHD2):c.1833G>A (p.Trp611Ter) rs2141816525
NM_001271.4(CHD2):c.1858del (p.His620fs)
NM_001271.4(CHD2):c.1861C>T (p.Arg621Trp) rs1064795815
NM_001271.4(CHD2):c.1880_1883del (p.Ser627fs) rs2141816549
NM_001271.4(CHD2):c.1883del (p.Leu628fs) rs2141816557
NM_001271.4(CHD2):c.188_191del (p.Gln63fs)
NM_001271.4(CHD2):c.1894dup (p.Thr632fs) rs2053619207
NM_001271.4(CHD2):c.1897_1898del (p.Leu633fs) rs2053619257
NM_001271.4(CHD2):c.1903_1906del (p.Asp635fs)
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.1968_1969dup (p.Trp657fs)
NM_001271.4(CHD2):c.2013G>A (p.Trp671Ter)
NM_001271.4(CHD2):c.2032dup (p.His678fs)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2134A>G (p.Lys712Glu)
NM_001271.4(CHD2):c.2288_2291del (p.Asn763fs)
NM_001271.4(CHD2):c.2341dup (p.Glu781fs)
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) rs146691368
NM_001271.4(CHD2):c.2536C>G (p.Arg846Gly) rs2141839141
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter) rs2141839141
NM_001271.4(CHD2):c.2587_2591del (p.Phe863fs) rs2141843174
NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter) rs1085308000
NM_001271.4(CHD2):c.2648dup (p.Ile884fs)
NM_001271.4(CHD2):c.2686C>G (p.Gln896Glu) rs2141843235
NM_001271.4(CHD2):c.2698C>G (p.Arg900Gly) rs1567149943
NM_001271.4(CHD2):c.2698C>T (p.Arg900Ter) rs1567149943
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2739C>A (p.Tyr913Ter)
NM_001271.4(CHD2):c.2759C>T (p.Thr920Ile) rs2141844210
NM_001271.4(CHD2):c.2765dup (p.Glu923fs) rs1555442886
NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer) rs1555442889
NM_001271.4(CHD2):c.2821C>T (p.Gln941Ter) rs2141844243
NM_001271.4(CHD2):c.2826_2827insTGGC (p.Met943fs) rs2141844251
NM_001271.4(CHD2):c.2849_2855del (p.Ile950fs)
NM_001271.4(CHD2):c.2864C>G (p.Ser955Ter)
NM_001271.4(CHD2):c.2882del (p.Asn961fs)
NM_001271.4(CHD2):c.2888_2889insAT (p.Phe963fs) rs2141846356
NM_001271.4(CHD2):c.2899dup (p.Glu967fs)
NM_001271.4(CHD2):c.294+3A>G rs2141746246
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer) rs1064796496
NM_001271.4(CHD2):c.3063dup (p.Lys1022Ter)
NM_001271.4(CHD2):c.3100G>T (p.Glu1034Ter) rs2141850583
NM_001271.4(CHD2):c.3106G>T (p.Glu1036Ter)
NM_001271.4(CHD2):c.3128G>A (p.Trp1043Ter)
NM_001271.4(CHD2):c.3156dup (p.Lys1053fs)
NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs) rs2054015565
NM_001271.4(CHD2):c.3323_3324del (p.Asp1107_Ser1108insTer) rs2141851983
NM_001271.4(CHD2):c.3349A>T (p.Arg1117Ter) rs777803897
NM_001271.4(CHD2):c.3355_3356del (p.Arg1119fs) rs2141852009
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter) rs773860345
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001271.4(CHD2):c.3412del (p.Arg1138fs) rs2141852057
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.3455G>A (p.Arg1152Gln)
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.3638_3644delinsAAAATGCACAGAAATGTCATCAAGAGGTTAANNNNNNNNNNATGCATTTCCCCAGTAGATGGGTCCTTGTACACCAAGACTTTTTGTTCGTCTTTGTACCAGAGTTTAGCCAAAG (p.Ser1213_Val1215delinsTer) rs2141867280
NM_001271.4(CHD2):c.3651del (p.Asn1218fs)
NM_001271.4(CHD2):c.3651dup (p.Asn1218Ter)
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.3759del (p.Ala1254fs)
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter) rs1555444603
NM_001271.4(CHD2):c.3782G>C (p.Trp1261Ser)
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.3830G>C (p.Gly1277Ala)
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter) rs2054212444
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.3938G>A (p.Arg1313Gln) rs1131692012
NM_001271.4(CHD2):c.3938G>C (p.Arg1313Pro) rs1131692012
NM_001271.4(CHD2):c.3987_3988dup (p.Ala1330fs)
NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter) rs1567159145
NM_001271.4(CHD2):c.4170_4173del (p.Lys1390fs) rs749969667
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter) rs3210462
NM_001271.4(CHD2):c.4176_4177del (p.Lys1393fs) rs2141873663
NM_001271.4(CHD2):c.4184_4187del (p.Lys1395fs) rs2141873672
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001271.4(CHD2):c.4304del (p.Ser1434_Ser1435insTer) rs2141876515
NM_001271.4(CHD2):c.4318C>T (p.Arg1440Ter)
NM_001271.4(CHD2):c.443+3_443+6del rs2141755356
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter)
NM_001271.4(CHD2):c.4525del (p.Ile1509fs)
NM_001271.4(CHD2):c.4587G>A (p.Trp1529Ter) rs2141881688
NM_001271.4(CHD2):c.4636C>T (p.Arg1546Ter) rs1064796449
NM_001271.4(CHD2):c.4672_4676del (p.Lys1558fs)
NM_001271.4(CHD2):c.4724dup (p.Gly1575_Lys1576insTer)
NM_001271.4(CHD2):c.4761_4782del (p.Arg1588fs)
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs) rs1555445685
NM_001271.4(CHD2):c.4793C>A (p.Ser1598Ter)
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4915dup (p.Asp1639fs)
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_001271.4(CHD2):c.4949dup (p.Gly1651fs) rs2054514265
NM_001271.4(CHD2):c.4968dup (p.Trp1657fs) rs2054514589
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.4987dup (p.His1663fs)
NM_001271.4(CHD2):c.5029dup (p.Asp1677fs)
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5041_5042del (p.Met1681fs) rs2141895289
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter) rs761127171
NM_001271.4(CHD2):c.5100T>G (p.Tyr1700Ter) rs751251777
NM_001271.4(CHD2):c.5153+1G>T rs761115271
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_001271.4(CHD2):c.617del (p.Asp206fs)
NM_001271.4(CHD2):c.654dup (p.Lys219fs) rs2141778479
NM_001271.4(CHD2):c.670C>T (p.Arg224Ter) rs2053326002
NM_001271.4(CHD2):c.693-2A>G rs886039708
NM_001271.4(CHD2):c.696C>A (p.Tyr232Ter)
NM_001271.4(CHD2):c.709_713dup (p.Phe238fs)
NM_001271.4(CHD2):c.739G>T (p.Glu247Ter) rs1567135138
NM_001271.4(CHD2):c.747_748del (p.Gly250fs) rs2053387971
NM_001271.4(CHD2):c.806C>G (p.Ser269Ter) rs2141785162
NM_001271.4(CHD2):c.847del (p.Val283fs)
NM_001271.4(CHD2):c.879_883del (p.Ser293fs) rs1060503517
NM_001271.4(CHD2):c.938_948del (p.Gly313fs) rs2141787520
NM_001271.4(CHD2):c.975del (p.Glu325fs) rs2141787589
NM_003042.4(SLC6A1):c.1000G>C (p.Ala334Pro) rs749240316
NM_003042.4(SLC6A1):c.1004dup (p.Phe336fs) rs2124926277
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met) rs760836450
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1157T>C (p.Phe386Ser)
NM_003042.4(SLC6A1):c.1192-1G>A rs1697775354
NM_003042.4(SLC6A1):c.1192-2A>G rs1697775287
NM_003042.4(SLC6A1):c.1199C>T (p.Thr400Ile)
NM_003042.4(SLC6A1):c.1223T>G (p.Leu408Arg) rs2124931871
NM_003042.4(SLC6A1):c.1255del (p.Arg419fs) rs1553690583
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp) rs1553687863
NM_003042.4(SLC6A1):c.1311dup (p.Asn438Ter) rs2124932157
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1335dup (p.Val446fs) rs1574917501
NM_003042.4(SLC6A1):c.1366A>C (p.Ser456Arg) rs1697893468
NM_003042.4(SLC6A1):c.1366A>T (p.Ser456Cys) rs1697893468
NM_003042.4(SLC6A1):c.1377C>G (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1435C>T (p.Arg479Ter) rs745529755
NM_003042.4(SLC6A1):c.1495T>C (p.Cys499Arg) rs2124942597
NM_003042.4(SLC6A1):c.1513C>A (p.Pro505Thr) rs1698023649
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003042.4(SLC6A1):c.1552C>T (p.Gln518Ter)
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
NM_003042.4(SLC6A1):c.197del (p.Asn66fs) rs1697197599
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.25del (p.Ala9fs) rs1697186082
NM_003042.4(SLC6A1):c.279G>A (p.Ala93=) rs1697221045
NM_003042.4(SLC6A1):c.316C>T (p.Gln106Ter)
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg) rs1559622516
NM_003042.4(SLC6A1):c.336dup (p.Leu113fs) rs1697224249
NM_003042.4(SLC6A1):c.370G>A (p.Gly124Ser) rs2124907082
NM_003042.4(SLC6A1):c.373G>A (p.Val125Met) rs1574893965
NM_003042.4(SLC6A1):c.403_423del (p.Trp135_Ile141del) rs2124908675
NM_003042.4(SLC6A1):c.404G>A (p.Trp135Ter) rs1697263091
NM_003042.4(SLC6A1):c.434C>T (p.Ser145Phe)
NM_003042.4(SLC6A1):c.449del (p.Tyr150fs) rs2124908824
NM_003042.4(SLC6A1):c.492C>A (p.Cys164Ter)
NM_003042.4(SLC6A1):c.502del (p.Trp168fs)
NM_003042.4(SLC6A1):c.523_524insA (p.Ser175fs) rs1574897036
NM_003042.4(SLC6A1):c.566del (p.Val189fs) rs2124912717
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.643_661dup (p.Ala221fs) rs2124917812
NM_003042.4(SLC6A1):c.689G>A (p.Trp230Ter)
NM_003042.4(SLC6A1):c.704G>A (p.Trp235Ter) rs1697444489
NM_003042.4(SLC6A1):c.714+2T>G
NM_003042.4(SLC6A1):c.850-1G>A rs2124924932
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter) rs2124924957
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003042.4(SLC6A1):c.914C>T (p.Ala305Val)
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_004287.5(GOSR2):c.161del (p.Leu54fs) rs2146892080
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter) rs2146691974
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)
NM_004287.5(GOSR2):c.210del (p.Asp71fs) rs2146911959
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)
NM_004287.5(GOSR2):c.262del (p.Gln88fs) rs776869841
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter) rs1466441723
NM_004287.5(GOSR2):c.89_90del (p.Val30fs) rs1330994397
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1195A>T (p.Arg399Ter) rs2131175203
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004408.4(DNM1):c.1626del (p.Trp542fs)
NM_004408.4(DNM1):c.2296C>T (p.Gln766Ter) rs1829434336
NM_004408.4(DNM1):c.2299dup (p.Ser767fs) rs2131297826
NM_004408.4(DNM1):c.2434dup (p.Ala812fs) rs747024881
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.767del (p.Arg256fs) rs2131158061
NM_005045.4(RELN):c.1475del (p.Asn492fs)
NM_005045.4(RELN):c.2075del (p.Asp692fs)
NM_005045.4(RELN):c.2086dup (p.Ser696fs) rs1832583187
NM_005045.4(RELN):c.2364del (p.Asp789fs) rs2117348851
NM_005045.4(RELN):c.2896G>T (p.Glu966Ter)
NM_005045.4(RELN):c.3215del (p.Asp1072fs) rs1831725857
NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter)
NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter) rs2117255208
NM_005045.4(RELN):c.3485dup (p.Ile1163fs) rs1831540545
NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs)
NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)
NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter) rs2117248586
NM_005045.4(RELN):c.4190del (p.Asn1397fs) rs2117208388
NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs) rs2117205170
NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter) rs2117204949
NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter) rs2117189408
NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter)
NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs) rs2117188195
NM_005045.4(RELN):c.5115del (p.Ile1706fs)
NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter)
NM_005045.4(RELN):c.5455del (p.Glu1819fs)
NM_005045.4(RELN):c.5489del (p.Gly1830fs)
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) rs1830401647
NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs)
NM_005045.4(RELN):c.6474del (p.Cys2159fs) rs2117139699
NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter)
NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter)
NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)
NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)
NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)
NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter) rs1829533362
NM_005045.4(RELN):c.8433del (p.Pro2812fs)
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter) rs2117021067
NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835
NM_005097.4(LGI1):c.108del (p.Lys36fs) rs2133975489
NM_005097.4(LGI1):c.1104C>A (p.Tyr368Ter)
NM_005097.4(LGI1):c.1118T>A (p.Leu373Ter) rs2134026513
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) rs1060502053
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) rs1554907767
NM_005097.4(LGI1):c.1252C>T (p.Gln418Ter) rs2134026684
NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) rs1554907787
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.1396C>T (p.Gln466Ter)
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) rs1554907835
NM_005097.4(LGI1):c.1465del (p.Tyr489fs) rs1589776148
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005097.4(LGI1):c.1599dup (p.Asn534Ter) rs2134027169
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) rs1564845068
NM_005097.4(LGI1):c.416del (p.Lys139fs)
NM_005097.4(LGI1):c.443dup (p.Asn148fs) rs2134017940
NM_005097.4(LGI1):c.446_449del (p.Asn149fs) rs2134017952
NM_005097.4(LGI1):c.598del (p.Cys200fs)
NM_005097.4(LGI1):c.600C>A (p.Cys200Ter)
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) rs1060502054
NM_005097.4(LGI1):c.795G>A (p.Trp265Ter) rs2134021516
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs) rs780638384
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)
NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)
NM_005506.4(SCARB2):c.226del (p.Leu76fs)
NM_005506.4(SCARB2):c.235del (p.Glu79fs) rs1732698125
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.638_639del (p.Tyr213fs) rs2109944333
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) rs886041075
NM_005506.4(SCARB2):c.850del (p.Tyr284fs) rs2109942038
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)
NM_005506.4(SCARB2):c.956del (p.Leu319fs) rs1732195544
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer) rs1170939620
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter) rs750988816
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
NM_005670.4(EPM2A):c.301+2T>C
NM_005670.4(EPM2A):c.302-2A>G rs780648601
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) rs1780901751
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs) rs1554263320
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter) rs1776817138
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs) rs1775923311
NM_005670.4(EPM2A):c.794A>G (p.His265Arg) rs201053542
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) rs137852917
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del) rs2128649765
NM_005670.4(EPM2A):c.934dup (p.Arg312fs) rs2128555980
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)
NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1136G>A (p.Ser379Asn) rs1481122214
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe) rs1057518066
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys) rs1060503696
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) rs1588385233
NM_020822.3(KCNT1):c.2771C>T (p.Pro924Leu)
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2797C>G (p.Arg933Gly) rs150395210
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2801C>T (p.Ala934Val)
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2943+1G>C rs1833833144
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp) rs1831067002
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_153033.5(KCTD7):c.130dup (p.Leu44fs)
NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter) rs2116755694
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter) rs267607199
NM_153033.5(KCTD7):c.331del (p.Leu111fs) rs1786631768
NM_153033.5(KCTD7):c.339_340del (p.Asp115fs) rs2116773782
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)
NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter) rs1207922864
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter) rs750811871
NM_178013.4(PRIMA1):c.270G>A (p.Trp90Ter) rs2141161066
NM_178013.4(PRIMA1):c.80G>A (p.Trp27Ter)
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) rs78324544
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs) rs1217276014
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) rs1157872508
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
NM_198586.3(NHLRC1):c.612del (p.Phe204fs) rs1171412241
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs) rs2150702964
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter) rs750055958
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
NM_198586.3(NHLRC1):c.799del (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.799dup (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer) rs1193841505
NM_198904.4(GABRG2):c.1025del (p.Cys342fs) rs1060501889
NM_198904.4(GABRG2):c.1035del (p.Phe345fs) rs1581453822
NM_198904.4(GABRG2):c.1087del (p.Arg363fs) rs1765186475
NM_198904.4(GABRG2):c.1181C>A (p.Ser394Ter)
NM_198904.4(GABRG2):c.1202dup (p.Asn401fs)
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs) rs1554101202
NM_198904.4(GABRG2):c.1224_1225insCA (p.Asp409fs) rs2113650735
NM_198904.4(GABRG2):c.1236C>A (p.Tyr412Ter)
NM_198904.4(GABRG2):c.1277_1278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTCTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCCAGTTTTTT (p.Phe426_Cys427insPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheSerPhePhePheTyrPhePheIlePhePhePhePhePheIleIleLeuTer)
NM_198904.4(GABRG2):c.1277del (p.Phe426fs) rs1285618109
NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter) rs1554101224
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu) rs587780341
NM_198904.4(GABRG2):c.1353del (p.Tyr452fs)
NM_198904.4(GABRG2):c.178A>T (p.Lys60Ter)
NM_198904.4(GABRG2):c.230_231del (p.Gly76_Tyr77insTer)
NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp) rs146470870
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.291T>A (p.Tyr97Ter)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.327+1del
NM_198904.4(GABRG2):c.334A>C (p.Thr112Pro)
NM_198904.4(GABRG2):c.351dup (p.Ala118fs) rs1554097873
NM_198904.4(GABRG2):c.363G>A (p.Trp121Ter)
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.386del (p.Asn129fs)
NM_198904.4(GABRG2):c.429dup (p.Lys144fs) rs2113326012
NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)
NM_198904.4(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198904.4(GABRG2):c.498del (p.Asn167fs) rs2113326854
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter) rs267606837
NM_198904.4(GABRG2):c.530del (p.Arg177fs) rs878854144
NM_198904.4(GABRG2):c.570C>A (p.Cys190Ter)
NM_198904.4(GABRG2):c.654_664del (p.Ile218fs)
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.677_681del (p.Ser225_Ser226insTer) rs1554098222
NM_198904.4(GABRG2):c.697del (p.Arg233fs) rs1761620237
NM_198904.4(GABRG2):c.715C>T (p.Gln239Ter)
NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter) rs549251133
NM_198904.4(GABRG2):c.769+2T>C
NM_198904.4(GABRG2):c.769G>A (p.Gly257Arg) rs1554098235
NM_198904.4(GABRG2):c.782del (p.Val261fs)
NM_198904.4(GABRG2):c.817G>T (p.Gly273Ter) rs1469287853
NM_198904.4(GABRG2):c.839A>G (p.Tyr280Cys)
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser) rs796052508
NM_198904.4(GABRG2):c.852_858del (p.Leu285fs)
NM_198904.4(GABRG2):c.877T>A (p.Ser293Thr) rs2113598950
NM_198904.4(GABRG2):c.917C>T (p.Ser306Phe) rs2113599212
NM_198904.4(GABRG2):c.940A>T (p.Thr314Ser) rs2113632555
NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter) rs1758361435
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu) rs1581453572
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys) rs1390117240

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