NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
|
rs181347577
|
0.00218
|
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)
|
rs140850172
|
0.00067
|
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)
|
rs115035120
|
0.00018
|
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln)
|
rs200007766
|
0.00007
|
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser)
|
rs531782747
|
0.00005
|
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)
|
rs199885651
|
0.00002
|
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn)
|
rs1187024375
|
0.00001
|
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly)
|
rs1273711716
|
0.00001
|
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs)
|
rs779219028
|
0.00001
|
NM_005045.4(RELN):c.1653T>A (p.Asn551Lys)
|
rs1417611613
|
0.00001
|
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys)
|
rs750252271
|
0.00001
|
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter)
|
rs1027289865
|
0.00001
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1
|
|
|
NM_000744.7(CHRNA4):c.479C>G (p.Ser160Cys)
|
rs201421555
|
|
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe)
|
rs121909580
|
|
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)
|
rs74315291
|
|
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
|
|
|
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln)
|
rs1898813434
|
|
NM_001077350.3(NPRL3):c.118+3_118+6del
|
rs1312109237
|
|
NM_001077350.3(NPRL3):c.119-1G>C
|
rs2141981312
|
|
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs)
|
rs1288771812
|
|
NM_001077350.3(NPRL3):c.189-1G>A
|
rs1900184374
|
|
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)
|
rs1567139896
|
|
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)
|
rs1899872500
|
|
NM_001077350.3(NPRL3):c.547+1G>C
|
rs1899864955
|
|
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
|
|
|
NM_001077350.3(NPRL3):c.630-1G>A
|
rs1899235603
|
|
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
|
|
|
NM_001077350.3(NPRL3):c.768-2del
|
rs1899110688
|
|
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter)
|
rs2141920098
|
|
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)
|
rs1898841618
|
|
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
|
|
|
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del
|
|
|
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)
|
rs2133805364
|
|
NM_001112741.2(KCNC1):c.282G>T (p.Trp94Cys)
|
rs1848764853
|
|
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser)
|
rs1443427135
|
|
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter)
|
rs1555455521
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1036A>T (p.Lys346Ter)
|
rs2141482042
|
|
NM_001134407.3(GRIN2A):c.1123-1G>T
|
rs2042854251
|
|
NM_001134407.3(GRIN2A):c.1123-2A>G
|
rs397518469
|
|
NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln)
|
rs2141369514
|
|
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg)
|
rs1555496111
|
|
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs)
|
rs2141346061
|
|
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
|
|
|
NM_001134407.3(GRIN2A):c.1400T>A (p.Leu467His)
|
rs2042668320
|
|
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg)
|
rs2042667149
|
|
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)
|
rs757713617
|
|
NM_001134407.3(GRIN2A):c.1497+1G>C
|
rs2141344569
|
|
NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys)
|
rs747838255
|
|
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)
|
rs397518470
|
|
NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)
|
|
|
NM_001134407.3(GRIN2A):c.1585del (p.Val529fs)
|
rs2141342590
|
|
NM_001134407.3(GRIN2A):c.1586del (p.Val529fs)
|
rs2141342580
|
|
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)
|
rs397518468
|
|
NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val)
|
rs1085307961
|
|
NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter)
|
rs2141342254
|
|
NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr)
|
rs1057523843
|
|
NM_001134407.3(GRIN2A):c.1642G>C (p.Ala548Pro)
|
rs1057523843
|
|
NM_001134407.3(GRIN2A):c.1651+1del
|
rs2141341804
|
|
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg)
|
rs397518450
|
|
NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter)
|
rs1057521810
|
|
NM_001134407.3(GRIN2A):c.1686del (p.Phe562fs)
|
rs2141325598
|
|
NM_001134407.3(GRIN2A):c.1692del (p.Met564fs)
|
rs886039604
|
|
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter)
|
rs143833346
|
|
NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs)
|
rs2050235998
|
|
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs)
|
rs2141313067
|
|
NM_001134407.3(GRIN2A):c.1818G>A (p.Trp606Ter)
|
rs775819322
|
|
NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln)
|
rs2141312803
|
|
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)
|
rs869312916
|
|
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)
|
rs397518447
|
|
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr)
|
rs2042449005
|
|
NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly)
|
rs1555492763
|
|
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)
|
rs1555492758
|
|
NM_001134407.3(GRIN2A):c.1943A>G (p.Asn648Ser)
|
rs796052545
|
|
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)
|
rs397514557
|
|
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
|
|
|
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val)
|
rs397518471
|
|
NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val)
|
rs2141312286
|
|
NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile)
|
rs2141312277
|
|
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)
|
rs2042447540
|
|
NM_001134407.3(GRIN2A):c.2007+1G>A
|
rs2141312109
|
|
NM_001134407.3(GRIN2A):c.2007+2dup
|
rs2141312103
|
|
NM_001134407.3(GRIN2A):c.2008-1G>T
|
rs2141295189
|
|
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)
|
rs397518472
|
|
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)
|
rs753203288
|
|
NM_001134407.3(GRIN2A):c.2047G>C (p.Gly683Arg)
|
|
|
NM_001134407.3(GRIN2A):c.2050A>G (p.Thr684Ala)
|
rs796052547
|
|
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala)
|
rs2141294973
|
|
NM_001134407.3(GRIN2A):c.2077A>G (p.Asn693Asp)
|
rs2042303226
|
|
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr)
|
rs2141294911
|
|
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)
|
rs1555491654
|
|
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser)
|
rs1555491648
|
|
NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val)
|
rs2141294795
|
|
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)
|
rs1057518070
|
|
NM_001134407.3(GRIN2A):c.2140del (p.Glu714fs)
|
rs2141294703
|
|
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn)
|
rs796052549
|
|
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)
|
rs796052550
|
|
NM_001134407.3(GRIN2A):c.2221A>G (p.Arg741Gly)
|
rs1903135567
|
|
NM_001134407.3(GRIN2A):c.2253dup (p.Ser752fs)
|
rs2141230698
|
|
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.2334_2338del (p.Leu779fs)
|
rs2141230279
|
|
NM_001134407.3(GRIN2A):c.2335_2336delinsAG (p.Leu779Arg)
|
rs1903126465
|
|
NM_001134407.3(GRIN2A):c.2336T>G (p.Leu779Trp)
|
rs1555488084
|
|
NM_001134407.3(GRIN2A):c.2341_2343delinsAT (p.Gln781fs)
|
rs2141230262
|
|
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg)
|
rs1250662891
|
|
NM_001134407.3(GRIN2A):c.2384G>A (p.Trp795Ter)
|
rs1555483728
|
|
NM_001134407.3(GRIN2A):c.2407G>T (p.Glu803Ter)
|
rs1198247451
|
|
NM_001134407.3(GRIN2A):c.2408del (p.Glu803fs)
|
rs2141151209
|
|
NM_001134407.3(GRIN2A):c.2427C>A (p.Ser809Arg)
|
rs1064795647
|
|
NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met)
|
rs752241086
|
|
NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val)
|
rs796052551
|
|
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)
|
rs1064796608
|
|
NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg)
|
rs1064796608
|
|
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)
|
rs751455326
|
|
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
|
|
|
NM_001134407.3(GRIN2A):c.2844del (p.Gln950fs)
|
|
|
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)
|
rs397518466
|
|
NM_001134407.3(GRIN2A):c.3365G>A (p.Gly1122Asp)
|
rs760885908
|
|
NM_001134407.3(GRIN2A):c.415-2A>G
|
rs2141633312
|
|
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter)
|
rs1057524089
|
|
NM_001134407.3(GRIN2A):c.500G>A (p.Trp167Ter)
|
rs1555455776
|
|
NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser)
|
rs2141632382
|
|
NM_001134407.3(GRIN2A):c.594G>A (p.Trp198Ter)
|
rs1555455726
|
|
NM_001134407.3(GRIN2A):c.627del (p.Phe210fs)
|
rs796052560
|
|
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter)
|
rs387906637
|
|
NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg)
|
rs2141631426
|
|
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr)
|
rs1238779318
|
|
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)
|
rs2044762657
|
|
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs)
|
rs2142390867
|
|
NM_001161352.2(KCNMA1):c.152C>T (p.Ser51Phe)
|
rs2093884478
|
|
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu)
|
rs200668674
|
|
NM_001161352.2(KCNMA1):c.2993A>G (p.Asn998Ser)
|
rs2052158751
|
|
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs)
|
rs1601970168
|
|
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)
|
rs1057519107
|
|
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs)
|
rs2148801432
|
|
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)
|
rs1569067939
|
|
NM_001242896.3(DEPDC5):c.2783C>T (p.Ala928Val)
|
rs1250427988
|
|
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val)
|
rs1419496771
|
|
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
|
|
|
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter)
|
rs886039268
|
|
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
|
|
|
NM_001242896.3(DEPDC5):c.767+1G>A
|
rs2148514247
|
|
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
|
|
|
NM_005097.4(LGI1):c.187del (p.Arg63fs)
|
|
|
NM_005097.4(LGI1):c.253G>A (p.Gly85Arg)
|
rs2133976199
|
|
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter)
|
rs2059583625
|
|
NM_005097.4(LGI1):c.682_683del (p.Lys228fs)
|
|
|
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)
|
|
|
NM_005097.4(LGI1):c.790G>C (p.Glu264Gln)
|
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
NM_006545.5(NPRL2):c.586-3C>A
|
rs775206926
|
|
NM_006545.5(NPRL2):c.683T>C (p.Leu228Pro)
|
rs1559856358
|
|
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs)
|
rs2109364484
|
|
NM_006922.4(SCN3A):c.3092T>A (p.Phe1031Tyr)
|
rs1687091780
|
|
NM_020361.5(CPA6):c.619C>T (p.Gln207Ter)
|
rs35993949
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala)
|
rs751320619
|
|
NM_020822.3(KCNT1):c.2464C>T (p.Arg822Trp)
|
rs746067661
|
|
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
|
|
|
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)
|
rs1023136319
|
|
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)
|
rs1443687532
|
|
NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)
|
|
|
NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly)
|
rs1938359399
|
|