NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_001077350.3(NPRL3):c.1162-2A>G
|
rs756257487
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_004287.5(GOSR2):c.204-7A>G
|
rs746177544
|
0.00004
|
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)
|
rs200053119
|
0.00003
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)
|
rs749809456
|
0.00002
|
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln)
|
rs758152252
|
0.00002
|
NM_153033.5(KCTD7):c.458G>A (p.Arg153His)
|
rs765235486
|
0.00002
|
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser)
|
rs780082503
|
0.00002
|
NM_000100.4(CSTB):c.10G>T (p.Gly4Trp)
|
rs74315443
|
0.00001
|
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)
|
rs386833439
|
0.00001
|
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)
|
rs886037961
|
0.00001
|
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val)
|
rs1485166517
|
0.00001
|
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs)
|
rs779219028
|
0.00001
|
NM_001242896.3(DEPDC5):c.695-1G>T
|
rs1265464096
|
0.00001
|
NM_005045.4(RELN):c.3912+2T>G
|
rs1226957030
|
0.00001
|
NM_005045.4(RELN):c.7349+2T>C
|
rs982831716
|
0.00001
|
NM_005076.5(CNTN2):c.1241-1G>C
|
rs1553345874
|
0.00001
|
NM_005076.5(CNTN2):c.2432-2A>G
|
rs1196223064
|
0.00001
|
NM_005506.4(SCARB2):c.994+2T>C
|
rs1168653552
|
0.00001
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp)
|
rs775807509
|
0.00001
|
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp)
|
rs375711140
|
0.00001
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg)
|
rs750033880
|
0.00001
|
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)
|
rs754476100
|
0.00001
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
NM_153033.5(KCTD7):c.456G>A (p.Val152=)
|
rs796052686
|
0.00001
|
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)
|
rs368001837
|
0.00001
|
NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp)
|
rs750770298
|
0.00001
|
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)
|
rs387907246
|
0.00001
|
NM_153033.5(KCTD7):c.551G>A (p.Arg184His)
|
rs747676224
|
0.00001
|
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter)
|
rs769144119
|
0.00001
|
NM_198904.4(GABRG2):c.631+1254C>T
|
rs886645578
|
0.00001
|
GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1
|
|
|
NC_000007.13:g.(?_66098242)_(66098451_?)dup
|
|
|
NC_000007.14:g.(?_103589576)_(103610827_?)dup
|
|
|
NC_000010.10:g.(?_78943159)_(78944694_?)dup
|
|
|
NC_000010.10:g.(?_78998319)_(79163801_?)dup
|
|
|
NC_000010.10:g.(?_95549836)_(95549947_?)del
|
|
|
NC_000016.9:g.(180591_188148)_(188672_?)del
|
|
|
NC_000016.9:g.(?_138677)_(188266_?)dup
|
|
|
NC_000016.9:g.(?_139774)_(159866_?)del
|
|
|
NC_000016.9:g.(?_148123)_(169274_?)dup
|
|
|
NC_000022.10:g.(?_32156622)_(32162674_?)dup
|
|
|
NC_000022.10:g.(?_32179873)_(32266750_?)dup
|
|
|
NC_000022.10:g.(?_32210968)_(32211208_?)dup
|
|
|
NC_000022.10:g.(?_32217594)_(32219450_?)del
|
|
|
NC_000022.10:g.(?_32226416)_(32233136_?)del
|
|
|
NC_000022.10:g.(?_32253411)_(32275758_?)dup
|
|
|
NC_000022.10:g.32217598_(32218777_32229900)del
|
|
|
NC_000022.11:g.(?_31778079)_(31792837_?)del
|
|
|
NC_000022.11:g.(?_31901722)_(31901822_?)del
|
|
|
NC_000022.11:g.(?_32200123)_(32200234_?)del
|
|
|
NM_000100.4(CSTB):c.168G>A (p.Lys56=)
|
rs386833440
|
|
NM_000100.4(CSTB):c.169-2A>G
|
rs386833441
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)
|
rs1569006250
|
|
NM_000100.4(CSTB):c.66G>A (p.Gln22=)
|
rs386833443
|
|
NM_000217.3(KCNA1):c.1186G>C (p.Gly396Arg)
|
rs2137673957
|
|
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
|
|
|
NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)
|
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_000748.3(CHRNB2):c.256-1G>A
|
|
|
NM_000748.3(CHRNB2):c.845T>A (p.Leu282His)
|
rs1696167453
|
|
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
|
|
|
NM_001077350.3(NPRL3):c.1031+2_1031+3del
|
rs2141909104
|
|
NM_001077350.3(NPRL3):c.1161+1G>A
|
|
|
NM_001077350.3(NPRL3):c.118+1G>A
|
|
|
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
|
|
|
NM_001077350.3(NPRL3):c.119-1G>C
|
rs2141981312
|
|
NM_001077350.3(NPRL3):c.119-2A>G
|
rs1361784389
|
|
NM_001077350.3(NPRL3):c.1217_1351+24delinsC
|
rs2141901872
|
|
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs)
|
rs1288771812
|
|
NM_001077350.3(NPRL3):c.1352-10_1368del
|
|
|
NM_001077350.3(NPRL3):c.1544+1del
|
rs1898611246
|
|
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs)
|
rs2141895084
|
|
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)
|
rs1199226176
|
|
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)
|
rs1596528731
|
|
NM_001077350.3(NPRL3):c.319-1G>A
|
|
|
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)
|
rs1899872500
|
|
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)
|
rs1596522356
|
|
NM_001077350.3(NPRL3):c.547+1G>A
|
rs1899864955
|
|
NM_001077350.3(NPRL3):c.547+1G>C
|
rs1899864955
|
|
NM_001077350.3(NPRL3):c.547+2T>A
|
|
|
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
|
|
|
NM_001077350.3(NPRL3):c.591_629+634del
|
rs1899713412
|
|
NM_001077350.3(NPRL3):c.629+1G>A
|
rs2141946055
|
|
NM_001077350.3(NPRL3):c.629+1G>T
|
rs2141946055
|
|
NM_001077350.3(NPRL3):c.630-1G>A
|
rs1899235603
|
|
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
|
|
|
NM_001077350.3(NPRL3):c.768-1G>A
|
|
|
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)
|
rs746975723
|
|
NM_001077350.3(NPRL3):c.925-1G>C
|
rs1898844907
|
|
NM_001077350.3(NPRL3):c.925-2A>G
|
rs1431914212
|
|
NM_001077350.3(NPRL3):c.925-2A>T
|
rs1431914212
|
|
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)
|
rs1898841618
|
|
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del
|
|
|
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)
|
rs1849236683
|
|
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)
|
|
|
NM_001112741.2(KCNC1):c.108del (p.Trp36fs)
|
rs1590088831
|
|
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)
|
rs2133805364
|
|
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)
|
rs1554991378
|
|
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
|
|
|
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs)
|
rs1590106815
|
|
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)
|
rs756544748
|
|
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala)
|
rs1565162623
|
|
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn)
|
rs796052488
|
|
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg)
|
rs1581220163
|
|
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter)
|
rs1555455521
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1008-2A>G
|
rs2043686667
|
|
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.1273del (p.Pro424_Leu425insTer)
|
rs879253760
|
|
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg)
|
rs1555496111
|
|
NM_001134407.3(GRIN2A):c.1328+2T>C
|
rs2042847630
|
|
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser)
|
rs1596494610
|
|
NM_001134407.3(GRIN2A):c.1329-1G>C
|
|
|
NM_001134407.3(GRIN2A):c.1329-2A>C
|
rs2141346217
|
|
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs)
|
rs2141346061
|
|
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
|
|
|
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
|
|
|
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn)
|
rs1567337914
|
|
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.1532C>T (p.Ser511Leu)
|
rs267604688
|
|
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.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.1630G>A (p.Val544Ile)
|
rs2141342055
|
|
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.1652-2A>G
|
rs2141325752
|
|
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.1678ATG[1] (p.Met561del)
|
rs1057519248
|
|
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.1777+1G>C
|
rs2141325180
|
|
NM_001134407.3(GRIN2A):c.1777+2T>C
|
rs2141325169
|
|
NM_001134407.3(GRIN2A):c.1778-2A>C
|
rs2141313144
|
|
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs)
|
rs2141313067
|
|
NM_001134407.3(GRIN2A):c.1788_1789insGTG (p.Gly596_Pro597insVal)
|
rs2042451238
|
|
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.1849G>A (p.Val617Met)
|
|
|
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr)
|
rs2042449005
|
|
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp)
|
rs2042448930
|
|
NM_001134407.3(GRIN2A):c.1924C>A (p.Leu642Met)
|
rs796052562
|
|
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+1G>T
|
|
|
NM_001134407.3(GRIN2A):c.2007+1del
|
rs1596471698
|
|
NM_001134407.3(GRIN2A):c.2007+2dup
|
rs2141312103
|
|
NM_001134407.3(GRIN2A):c.2008-1G>T
|
rs2141295189
|
|
NM_001134407.3(GRIN2A):c.2008-2A>C
|
|
|
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.2050A>G (p.Thr684Ala)
|
rs796052547
|
|
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala)
|
rs2141294973
|
|
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)
|
rs1445802934
|
|
NM_001134407.3(GRIN2A):c.2075_2116dup (p.Arg692_Met705dup)
|
rs2141294782
|
|
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.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.2147C>T (p.Ala716Val)
|
|
|
NM_001134407.3(GRIN2A):c.2168+1G>C
|
rs2141294532
|
|
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.2253dup (p.Ser752fs)
|
rs2141230698
|
|
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)
|
rs1555488119
|
|
NM_001134407.3(GRIN2A):c.2314A>G (p.Lys772Glu)
|
rs1555488094
|
|
NM_001134407.3(GRIN2A):c.2326G>A (p.Asp776Asn)
|
|
|
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.2341_2343delinsAT (p.Gln781fs)
|
rs2141230262
|
|
NM_001134407.3(GRIN2A):c.2356+1G>T
|
rs2141230207
|
|
NM_001134407.3(GRIN2A):c.2357-2A>T
|
|
|
NM_001134407.3(GRIN2A):c.2365GAG[1] (p.Glu790del)
|
|
|
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.2452G>A (p.Ala818Thr)
|
rs1555483699
|
|
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)
|
rs751455326
|
|
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val)
|
rs751455326
|
|
NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)
|
|
|
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
|
|
|
NM_001134407.3(GRIN2A):c.255_256insCTCATGTCCGGG (p.His85_Val86insLeuMetSerGly)
|
rs2142389389
|
|
NM_001134407.3(GRIN2A):c.2658T>A (p.Asn886Lys)
|
rs1321794341
|
|
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe)
|
rs1596586969
|
|
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)
|
rs397518466
|
|
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter)
|
rs1306036000
|
|
NM_001134407.3(GRIN2A):c.3219del (p.Glu1073fs)
|
|
|
NM_001134407.3(GRIN2A):c.3426del (p.Glu1143fs)
|
|
|
NM_001134407.3(GRIN2A):c.3881A>T (p.Asn1294Ile)
|
|
|
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile)
|
rs868762895
|
|
NM_001134407.3(GRIN2A):c.4067C>G (p.Ser1356Cys)
|
|
|
NM_001134407.3(GRIN2A):c.415-2A>G
|
rs2141633312
|
|
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly)
|
rs869312681
|
|
NM_001134407.3(GRIN2A):c.452_463del (p.Ile151_Ala155delinsThr)
|
rs2141632937
|
|
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.546dup (p.Phe183fs)
|
rs2141632418
|
|
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.703G>T (p.Glu235Ter)
|
rs2044763223
|
|
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs)
|
rs2142390867
|
|
NM_001134407.3(GRIN2A):c.942del (p.Glu315fs)
|
|
|
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala)
|
rs863224885
|
|
NM_001161352.2(KCNMA1):c.1749+2T>C
|
|
|
NM_001161352.2(KCNMA1):c.1807A>G (p.Thr603Ala)
|
rs2094531972
|
|
NM_001161352.2(KCNMA1):c.2092+1G>A
|
rs2090875352
|
|
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser)
|
rs1565091862
|
|
NM_001161352.2(KCNMA1):c.3016+2T>C
|
|
|
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)
|
rs886039469
|
|
NM_001161352.2(KCNMA1):c.574C>A (p.Leu192Ile)
|
rs2154251764
|
|
NM_001242896.3(DEPDC5):c.1081+2T>G
|
rs1601970824
|
|
NM_001242896.3(DEPDC5):c.1143+1G>A
|
rs2148649751
|
|
NM_001242896.3(DEPDC5):c.1225del (p.Thr409fs)
|
|
|
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs)
|
rs1568963062
|
|
NM_001242896.3(DEPDC5):c.1287+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.1324+1G>A
|
rs2088011240
|
|
NM_001242896.3(DEPDC5):c.1324+1G>T
|
rs2088011240
|
|
NM_001242896.3(DEPDC5):c.1325-1G>A
|
rs1555882867
|
|
NM_001242896.3(DEPDC5):c.1325-1G>C
|
rs1555882867
|
|
NM_001242896.3(DEPDC5):c.1325-2A>G
|
rs2148707066
|
|
NM_001242896.3(DEPDC5):c.1325-2_1360del
|
|
|
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs)
|
rs2088167973
|
|
NM_001242896.3(DEPDC5):c.1445+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.1446-1G>T
|
rs1555885023
|
|
NM_001242896.3(DEPDC5):c.147-1G>C
|
|
|
NM_001242896.3(DEPDC5):c.1673T>C (p.Leu558Pro)
|
rs2089433234
|
|
NM_001242896.3(DEPDC5):c.1696del (p.Gln566fs)
|
rs2148801285
|
|
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs)
|
rs2148801432
|
|
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
|
|
|
NM_001242896.3(DEPDC5):c.194-1G>C
|
rs2148102743
|
|
NM_001242896.3(DEPDC5):c.1981_2104+678del
|
|
|
NM_001242896.3(DEPDC5):c.2170+1G>A
|
rs2148924638
|
|
NM_001242896.3(DEPDC5):c.2233_2355-686del
|
rs2148952714
|
|
NM_001242896.3(DEPDC5):c.2354+2T>A
|
rs2148953712
|
|
NM_001242896.3(DEPDC5):c.2515+2T>G
|
|
|
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val)
|
rs1602349641
|
|
NM_001242896.3(DEPDC5):c.2634-2A>G
|
rs2149008450
|
|
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs)
|
rs1569083500
|
|
NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)
|
|
|
NM_001242896.3(DEPDC5):c.280-4_282del
|
|
|
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
|
|
|
NM_001242896.3(DEPDC5):c.3021+1G>A
|
rs2091657024
|
|
NM_001242896.3(DEPDC5):c.3264G>A (p.Lys1088=)
|
|
|
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del)
|
rs2092817019
|
|
NM_001242896.3(DEPDC5):c.3485+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.3485+1G>T
|
rs2149231722
|
|
NM_001242896.3(DEPDC5):c.3486-1G>C
|
|
|
NM_001242896.3(DEPDC5):c.3486-1G>T
|
|
|
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
|
|
|
NM_001242896.3(DEPDC5):c.3563+1G>A
|
rs1261611694
|
|
NM_001242896.3(DEPDC5):c.3563+1G>C
|
rs1261611694
|
|
NM_001242896.3(DEPDC5):c.363+1G>A
|
rs2082845191
|
|
NM_001242896.3(DEPDC5):c.363+1G>C
|
|
|
NM_001242896.3(DEPDC5):c.364-1G>A
|
rs2083056830
|
|
NM_001242896.3(DEPDC5):c.3696+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter)
|
rs1309166815
|
|
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
|
|
|
NM_001242896.3(DEPDC5):c.413+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs)
|
rs1339126434
|
|
NM_001242896.3(DEPDC5):c.4203+1G>C
|
rs945102665
|
|
NM_001242896.3(DEPDC5):c.4204-1G>A
|
|
|
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs)
|
rs1601755632
|
|
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs)
|
rs2148328679
|
|
NM_001242896.3(DEPDC5):c.4436+1G>A
|
rs2149419886
|
|
NM_001242896.3(DEPDC5):c.483+1G>A
|
rs2084070588
|
|
NM_001242896.3(DEPDC5):c.483+2T>C
|
|
|
NM_001242896.3(DEPDC5):c.484-2A>T
|
|
|
NM_001242896.3(DEPDC5):c.58+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.58+2T>C
|
|
|
NM_001242896.3(DEPDC5):c.59-2A>G
|
|
|
NM_001242896.3(DEPDC5):c.625-2A>G
|
rs1400868304
|
|
NM_001242896.3(DEPDC5):c.694+1G>A
|
rs1601875057
|
|
NM_001242896.3(DEPDC5):c.767+1G>A
|
rs2148514247
|
|
NM_001242896.3(DEPDC5):c.767+2T>C
|
|
|
NM_001242896.3(DEPDC5):c.768-2A>G
|
rs2086393945
|
|
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
|
|
|
NM_001242896.3(DEPDC5):c.871+1G>T
|
rs1556607762
|
|
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
|
|
|
NM_001242896.3(DEPDC5):c.947-1G>A
|
rs2148633437
|
|
NM_001283009.2(RTEL1):c.691G>T (p.Asp231Tyr)
|
|
|
NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter)
|
rs1588057922
|
|
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys)
|
rs760285654
|
|
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)
|
rs771373457
|
|
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)
|
rs771373457
|
|
NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]
|
|
|
NM_004287.5(GOSR2):c.204-1G>T
|
rs1187190721
|
|
NM_004287.5(GOSR2):c.337-2A>G
|
rs1568177307
|
|
NM_004287.5(GOSR2):c.95-1G>C
|
rs1186314496
|
|
NM_005045.4(RELN):c.2002+1G>A
|
|
|
NM_005045.4(RELN):c.2303+1G>A
|
rs2117350995
|
|
NM_005045.4(RELN):c.2303+2T>G
|
|
|
NM_005045.4(RELN):c.2465+2T>G
|
|
|
NM_005045.4(RELN):c.3463dup (p.Leu1155fs)
|
rs1831540987
|
|
NM_005045.4(RELN):c.473+1G>A
|
|
|
NM_005045.4(RELN):c.4936+1G>T
|
|
|
NM_005045.4(RELN):c.5615-2A>G
|
rs2117168257
|
|
NM_005045.4(RELN):c.6068_6072+20del
|
|
|
NM_005045.4(RELN):c.6314del (p.Phe2105fs)
|
rs1830269249
|
|
NM_005045.4(RELN):c.7180+1G>T
|
rs2117126444
|
|
NM_005045.4(RELN):c.805+1G>T
|
|
|
NM_005045.4(RELN):c.8843+2T>C
|
|
|
NM_005045.4(RELN):c.9444-1G>A
|
rs1828624396
|
|
NM_005076.5(CNTN2):c.1240+1G>A
|
rs113709347
|
|
NM_005076.5(CNTN2):c.1695+2T>C
|
rs763392794
|
|
NM_005076.5(CNTN2):c.1696-2A>G
|
|
|
NM_005076.5(CNTN2):c.2126-1G>C
|
rs2151198133
|
|
NM_005076.5(CNTN2):c.2197-2A>G
|
|
|
NM_005076.5(CNTN2):c.2544+1G>T
|
|
|
NM_005076.5(CNTN2):c.2731+1G>A
|
rs1202358073
|
|
NM_005097.4(LGI1):c.1095del (p.Asn365fs)
|
rs2134026453
|
|
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu)
|
rs797044999
|
|
NM_005097.4(LGI1):c.1421G>A (p.Arg474Gln)
|
rs1064794249
|
|
NM_005097.4(LGI1):c.1580_1581del (p.His527fs)
|
rs1364913665
|
|
NM_005097.4(LGI1):c.187del (p.Arg63fs)
|
|
|
NM_005097.4(LGI1):c.215+2T>A
|
rs2059586444
|
|
NM_005097.4(LGI1):c.287+1G>A
|
rs2059593242
|
|
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter)
|
rs2059583625
|
|
NM_005097.4(LGI1):c.504-1G>T
|
rs1564851314
|
|
NM_005097.4(LGI1):c.504-9_505del
|
rs2134020777
|
|
NM_005097.4(LGI1):c.682_683del (p.Lys228fs)
|
|
|
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)
|
|
|
NM_005506.4(SCARB2):c.108dup (p.Ile37fs)
|
rs1733108376
|
|
NM_005506.4(SCARB2):c.1113+1G>T
|
rs2109937707
|
|
NM_005506.4(SCARB2):c.1114-2A>G
|
|
|
NM_005506.4(SCARB2):c.1240-2A>G
|
|
|
NM_005506.4(SCARB2):c.235del (p.Glu79fs)
|
rs1732698125
|
|
NM_005506.4(SCARB2):c.424-1G>A
|
rs1732338984
|
|
NM_005506.4(SCARB2):c.995-16_1062delinsG
|
|
|
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)
|
rs187930476
|
|
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
|
|
|
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu)
|
rs1362231306
|
|
NM_005670.4(EPM2A):c.745G>A (p.Val249Met)
|
rs1387516050
|
|
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
|
rs749937487
|
|
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)
|
rs1131691331
|
|
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val)
|
rs2128649886
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
|
|
|
NM_006545.5(NPRL2):c.445_448+3del
|
rs1575562076
|
|
NM_006545.5(NPRL2):c.491dup (p.Asp165fs)
|
rs1703652698
|
|
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter)
|
rs2109365845
|
|
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs)
|
rs2109364484
|
|
NM_006545.5(NPRL2):c.907del (p.Gln303fs)
|
|
|
NM_006545.5(NPRL2):c.932+1G>A
|
rs1703621639
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
|
|
|
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)
|
rs767434859
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile)
|
rs1057518066
|
|
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
|
|
|
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)
|
rs397515406
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NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
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NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)
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rs1023136319
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NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser)
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rs397515403
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NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
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NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
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rs200694691
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NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
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NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr)
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rs1831666357
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NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
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NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys)
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rs587777264
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NM_022765.4(MICAL1):c.2348C>G (p.Ser783Ter)
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NM_022765.4(MICAL1):c.763G>T (p.Val255Leu)
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NM_032108.4(SEMA6B):c.1534_1537del (p.Ala512fs)
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rs2145347825
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NM_032108.4(SEMA6B):c.1739-2A>G
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NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)
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rs1443687532
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NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)
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NM_144633.3(KCNH8):c.298T>C (p.Tyr100His)
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NM_153033.5(KCTD7):c.145-2A>G
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rs1554397774
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NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)
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NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)
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rs867319899
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NM_153033.5(KCTD7):c.294C>T (p.Asp98=)
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NM_153033.5(KCTD7):c.314+1G>A
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rs1554397834
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NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro)
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rs765235486
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NM_153033.5(KCTD7):c.493+2_493+6del
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rs2116774137
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NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)
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NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr)
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rs2116775490
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NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg)
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rs200415747
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NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs)
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rs1783731105
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NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
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NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
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NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg)
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rs967125703
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NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu)
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rs200559475
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NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter)
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rs1403101337
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NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
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rs1194084403
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NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)
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rs1057520498
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NM_198904.4(GABRG2):c.950C>A (p.Thr317Asn)
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rs1765173859
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Single allele
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