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
|
|