NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
NM_019066.5(MAGEL2):c.494C>T (p.Pro165Leu)
|
rs572249702
|
0.00045
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg)
|
rs144289764
|
0.00009
|
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)
|
rs371709824
|
0.00009
|
NM_006922.4(SCN3A):c.5583G>C (p.Leu1861Phe)
|
rs146618194
|
0.00006
|
NM_001365999.1(SZT2):c.4721G>A (p.Arg1574Gln)
|
rs532357677
|
0.00005
|
NM_005918.4(MDH2):c.686G>A (p.Arg229Gln)
|
rs373614243
|
0.00005
|
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)
|
rs751726770
|
0.00004
|
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)
|
rs373224251
|
0.00004
|
NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg)
|
rs796053201
|
0.00003
|
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu)
|
rs1224993536
|
0.00002
|
NM_001040142.2(SCN2A):c.451C>T (p.Pro151Ser)
|
rs200109956
|
0.00002
|
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys)
|
rs1272022379
|
0.00002
|
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys)
|
rs1336849921
|
0.00002
|
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)
|
rs746532292
|
0.00002
|
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)
|
rs375132545
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001365999.1(SZT2):c.5333T>G (p.Phe1778Cys)
|
rs771463216
|
0.00002
|
NM_024818.6(UBA5):c.460G>A (p.Val154Met)
|
rs761169562
|
0.00002
|
NM_001032221.6(STXBP1):c.1360-7C>T
|
rs895077278
|
0.00001
|
NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys)
|
rs775923587
|
0.00001
|
NM_001040142.2(SCN2A):c.628C>G (p.Leu210Val)
|
rs764647930
|
0.00001
|
NM_001040142.2(SCN2A):c.818A>G (p.Asn273Ser)
|
rs1697366709
|
0.00001
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys)
|
rs776279771
|
0.00001
|
NM_001130438.3(SPTAN1):c.4344G>A (p.Gln1448=)
|
rs1357221237
|
0.00001
|
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser)
|
rs1413596219
|
0.00001
|
NM_001184880.2(PCDH19):c.2599G>A (p.Gly867Ser)
|
rs752424355
|
0.00001
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
NM_001191061.2(SLC25A22):c.199C>T (p.Arg67Trp)
|
rs780763318
|
0.00001
|
NM_001271.4(CHD2):c.2507G>A (p.Arg836His)
|
rs1429832116
|
0.00001
|
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly)
|
rs927604763
|
0.00001
|
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly)
|
rs1218990219
|
0.00001
|
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys)
|
rs1234934110
|
0.00001
|
NM_001365999.1(SZT2):c.8137G>A (p.Val2713Met)
|
rs773129616
|
0.00001
|
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)
|
rs369774476
|
0.00001
|
NM_001958.5(EEF1A2):c.465G>A (p.Met155Ile)
|
rs1555883811
|
0.00001
|
NM_004974.4(KCNA2):c.290G>A (p.Arg97Gln)
|
rs1194485302
|
0.00001
|
NM_006922.4(SCN3A):c.2552G>A (p.Arg851Gln)
|
rs897312933
|
0.00001
|
NM_007254.4(PNKP):c.151G>C (p.Val51Leu)
|
rs753839317
|
0.00001
|
NM_007254.4(PNKP):c.498G>A (p.Lys166=)
|
rs141251138
|
0.00001
|
NM_015267.4(CUX2):c.1795C>A (p.Arg599Ser)
|
rs200707164
|
0.00001
|
NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser)
|
rs147832660
|
0.00001
|
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)
|
rs780345312
|
0.00001
|
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)
|
rs564185858
|
0.00001
|
NM_020822.3(KCNT1):c.3005C>T (p.Pro1002Leu)
|
rs763585049
|
0.00001
|
NM_020988.3(GNAO1):c.428G>A (p.Arg143Gln)
|
rs777414554
|
0.00001
|
NM_022786.3(ARV1):c.363_364del (p.Ser122fs)
|
rs769858809
|
0.00001
|
NM_024818.6(UBA5):c.684G>A (p.Ala228=)
|
rs1313071575
|
0.00001
|
NM_130811.4(SNAP25):c.404G>A (p.Arg135His)
|
rs1315869651
|
0.00001
|
NM_130811.4(SNAP25):c.92G>A (p.Arg31His)
|
rs1341058084
|
0.00001
|
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1
|
|
|
GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1
|
|
|
GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1
|
|
|
GRCh37/hg19 Xq28(chrX:153283692-153298113)x1
|
|
|
NM_000702.4(ATP1A2):c.1021T>C (p.Cys341Arg)
|
|
|
NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr)
|
|
|
NM_000807.4(GABRA2):c.438del (p.Arg147fs)
|
rs1727826275
|
|
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser)
|
rs2110051822
|
|
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys)
|
rs1728584859
|
|
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile)
|
rs886039818
|
|
NM_000814.6(GABRB3):c.151C>G (p.Arg51Gly)
|
rs2140199581
|
|
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
|
|
|
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln)
|
rs1890228169
|
|
NM_000814.6(GABRB3):c.8del (p.Gly3fs)
|
rs1891196700
|
|
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys)
|
rs1889966424
|
|
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)
|
rs886041295
|
|
NM_000834.5(GRIN2B):c.1648T>C (p.Phe550Leu)
|
|
|
NM_000834.5(GRIN2B):c.2010G>A (p.Lys670=)
|
rs1369104116
|
|
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro)
|
rs2136413399
|
|
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr)
|
rs1948652117
|
|
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val)
|
|
|
NM_000834.5(GRIN2B):c.2510T>C (p.Ile837Thr)
|
rs1565455844
|
|
NM_000834.5(GRIN2B):c.718A>G (p.Ile240Val)
|
rs2136629212
|
|
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn)
|
rs1569064110
|
|
NM_000836.4(GRIN2D):c.1718C>T (p.Ser573Phe)
|
rs2147452753
|
|
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)
|
rs886040861
|
|
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe)
|
rs1600982189
|
|
NM_000836.4(GRIN2D):c.2023G>A (p.Ala675Thr)
|
rs1970995171
|
|
NM_000836.4(GRIN2D):c.2033C>A (p.Ala678Asp)
|
rs2147455922
|
|
NM_000836.4(GRIN2D):c.2533A>G (p.Met845Val)
|
rs2147475435
|
|
NM_000836.4(GRIN2D):c.3812C>T (p.Ser1271Leu)
|
rs1971341588
|
|
NM_000836.4(GRIN2D):c.3937C>T (p.Arg1313Trp)
|
rs2147478270
|
|
NM_001032221.6(STXBP1):c.1029+1G>A
|
rs727504173
|
|
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)
|
rs121918321
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)
|
rs796053381
|
|
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.130TGC[1] (p.Cys45del)
|
rs2132444621
|
|
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs)
|
rs1554778657
|
|
NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)
|
|
|
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys)
|
rs1842044505
|
|
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)
|
rs796053373
|
|
NM_001032221.6(STXBP1):c.1672delinsAACGGAAAGTGGGAGGTGGGAGG (p.Gln558fs)
|
rs2131536257
|
|
NM_001032221.6(STXBP1):c.1702+1G>A
|
rs796053377
|
|
NM_001032221.6(STXBP1):c.305C>T (p.Ala102Val)
|
rs1840974440
|
|
NM_001032221.6(STXBP1):c.326-1G>T
|
rs1554776948
|
|
NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs)
|
rs1841026473
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser)
|
rs1841136116
|
|
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
|
rs1841141204
|
|
NM_001032221.6(STXBP1):c.690_697delinsT (p.Leu231fs)
|
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001032221.6(STXBP1):c.748C>A (p.Gln250Lys)
|
|
|
NM_001032221.6(STXBP1):c.830_831delinsC (p.Lys277fs)
|
|
|
NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro)
|
rs2131481623
|
|
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
|
rs1588324025
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
NM_001037333.3(CYFIP2):c.2690A>G (p.Tyr897Cys)
|
rs1480245320
|
|
NM_001040142.2(SCN2A):c.1403C>A (p.Ser468Tyr)
|
rs1697690842
|
|
NM_001040142.2(SCN2A):c.1450del (p.Ser484fs)
|
rs2105259671
|
|
NM_001040142.2(SCN2A):c.1682G>A (p.Ser561Asn)
|
rs1574591292
|
|
NM_001040142.2(SCN2A):c.1728C>A (p.Ser576Arg)
|
rs1382196994
|
|
NM_001040142.2(SCN2A):c.2197G>A (p.Ala733Thr)
|
|
|
NM_001040142.2(SCN2A):c.2715G>T (p.Lys905Asn)
|
|
|
NM_001040142.2(SCN2A):c.3736dup (p.Asp1246fs)
|
rs1700953301
|
|
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro)
|
rs796053134
|
|
NM_001040142.2(SCN2A):c.4192T>A (p.Trp1398Arg)
|
|
|
NM_001040142.2(SCN2A):c.4252G>A (p.Val1418Ile)
|
rs1701232747
|
|
NM_001040142.2(SCN2A):c.4466T>G (p.Phe1489Cys)
|
rs1701579531
|
|
NM_001040142.2(SCN2A):c.452del (p.Pro151fs)
|
rs1697224468
|
|
NM_001040142.2(SCN2A):c.4596del (p.Phe1533fs)
|
|
|
NM_001040142.2(SCN2A):c.4606A>G (p.Ser1536Gly)
|
rs1701898006
|
|
NM_001040142.2(SCN2A):c.4713T>G (p.Ile1571Met)
|
|
|
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)
|
rs121917752
|
|
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)
|
|
|
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter)
|
rs1553567936
|
|
NM_001099922.3(ALG13):c.230T>C (p.Val77Ala)
|
rs1933636414
|
|
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)
|
rs267608571
|
|
NM_001110792.2(MECP2):c.1173del (p.Val392fs)
|
rs1557135793
|
|
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
|
rs267608382
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)
|
rs781843758
|
|
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr)
|
rs2065906320
|
|
NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup)
|
rs2065905269
|
|
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)
|
rs61753979
|
|
NM_001110792.2(MECP2):c.148_149insGCCAAAG (p.Glu50fs)
|
rs2065989620
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro)
|
rs61748389
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu)
|
rs61748391
|
|
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
|
rs61748408
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.808_1334del (p.Glu270fs)
|
rs2148658938
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met)
|
rs779827819
|
|
NM_001127222.2(CACNA1A):c.1037_1082+113del
|
|
|
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
|
|
|
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser)
|
rs1982996175
|
|
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter)
|
rs1555757537
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.2077T>A (p.Phe693Ile)
|
rs2057841232
|
|
NM_001127222.2(CACNA1A):c.2202C>A (p.Asn734Lys)
|
rs2057768031
|
|
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs)
|
rs2057404744
|
|
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)
|
rs750826355
|
|
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys)
|
rs2057333004
|
|
NM_001127222.2(CACNA1A):c.3990-2A>C
|
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4103G>C (p.Cys1368Ser)
|
rs2056735436
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4242del (p.Asp1415fs)
|
|
|
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln)
|
rs2144758462
|
|
NM_001127222.2(CACNA1A):c.4866+1G>T
|
rs2144725957
|
|
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter)
|
rs1600139781
|
|
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe)
|
rs2055823924
|
|
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)
|
rs2055612253
|
|
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
|
|
|
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter)
|
rs886042230
|
|
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His)
|
rs1057521547
|
|
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser)
|
rs1568424111
|
|
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs)
|
rs2144501233
|
|
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg)
|
rs1599292506
|
|
NM_001127222.2(CACNA1A):c.6937CAG[4] (p.Gln2317_Gln2325del)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu)
|
rs1235870142
|
|
NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu)
|
rs1581221893
|
|
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)
|
rs1376907797
|
|
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
|
rs727503940
|
|
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)
|
rs796052496
|
|
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)
|
rs1567871600
|
|
NM_001130438.3(SPTAN1):c.1462-2A>G
|
|
|
NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter)
|
rs1852298912
|
|
NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs)
|
rs1852530020
|
|
NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe)
|
rs1852827656
|
|
NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg)
|
rs150793549
|
|
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg)
|
rs1554756114
|
|
NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn)
|
rs1856146384
|
|
NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)
|
rs1131691643
|
|
NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter)
|
rs1856640613
|
|
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)
|
rs1232614751
|
|
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp)
|
rs2130975930
|
|
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)
|
rs2131953982
|
|
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln)
|
rs1858936991
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del)
|
rs2131985621
|
|
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)
|
rs1859859572
|
|
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del)
|
rs2132088836
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del)
|
rs796053334
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
|
|
|
NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln)
|
rs1850091477
|
|
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)
|
rs2131012797
|
|
NM_001135659.3:c.(?_-921)_(931+1_932-1)del
|
|
|
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)
|
rs794726713
|
|
NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs)
|
rs2105867534
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)
|
rs2105862220
|
|
NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs)
|
rs2105850165
|
|
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)
|
rs794726736
|
|
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)
|
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)
|
rs767045134
|
|
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter)
|
rs863225031
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)
|
rs1266877537
|
|
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)
|
rs1696653174
|
|
NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys)
|
rs2105805621
|
|
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)
|
rs1696400496
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)
|
rs794726770
|
|
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)
|
rs1553531134
|
|
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)
|
rs2105571418
|
|
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
|
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.4002+1G>T
|
rs1692153643
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)
|
rs2105486716
|
|
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
|
rs1690574155
|
|
NM_001165963.4(SCN1A):c.4338+5G>C
|
rs796053011
|
|
NM_001165963.4(SCN1A):c.4390G>C (p.Val1464Leu)
|
|
|
NM_001165963.4(SCN1A):c.4581+18A>G
|
rs1689981394
|
|
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
|
rs121917993
|
|
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
|
rs1698960532
|
|
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
|
|
|
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)
|
rs794726754
|
|
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer)
|
rs1689241423
|
|
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)
|
rs1559101839
|
|
NM_001165963.4(SCN1A):c.5599_5605del (p.Ile1867fs)
|
rs2105425501
|
|
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)
|
rs121917935
|
|
NM_001165963.4(SCN1A):c.603-3C>G
|
|
|
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)
|
rs796052961
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)
|
rs121917909
|
|
NM_001165963.4(SCN1A):c.965-1G>A
|
rs794726824
|
|
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)
|
rs781746113
|
|
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter)
|
rs769967221
|
|
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala)
|
rs1928373723
|
|
NM_001184880.2(PCDH19):c.2298G>C (p.Glu766Asp)
|
rs1928233323
|
|
NM_001184880.2(PCDH19):c.2365G>T (p.Val789Leu)
|
rs1928230109
|
|
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys)
|
rs914370738
|
|
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs)
|
rs2147542293
|
|
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs)
|
rs1924620442
|
|
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala)
|
rs1928459143
|
|
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs)
|
rs1928424117
|
|
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del
|
|
|
NM_001199107.2(TBC1D24):c.1115C>A (p.Ser372Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
NM_001205293.3(CACNA1E):c.499G>A (p.Val167Met)
|
rs1666159827
|
|
NM_001205293.3(CACNA1E):c.5816G>T (p.Ser1939Ile)
|
rs1661203470
|
|
NM_001205293.3(CACNA1E):c.6818G>A (p.Arg2273Gln)
|
rs866037100
|
|
NM_001205293.3(CACNA1E):c.802T>C (p.Cys268Arg)
|
|
|
NM_001271.4(CHD2):c.1681_1692del (p.Val561_Tyr564del)
|
rs2141811654
|
|
NM_001271.4(CHD2):c.1913C>G (p.Ser638Cys)
|
rs2053619310
|
|
NM_001271.4(CHD2):c.229C>G (p.Pro77Ala)
|
rs1228076921
|
|
NM_001271.4(CHD2):c.2650A>G (p.Ile884Val)
|
rs2053935304
|
|
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)
|
rs2053935622
|
|
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro)
|
rs2053946404
|
|
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala)
|
rs2053978897
|
|
NM_001271.4(CHD2):c.3542G>A (p.Cys1181Tyr)
|
rs2141861661
|
|
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs)
|
rs2054197493
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
NM_001271.4(CHD2):c.3805C>G (p.Leu1269Val)
|
rs1308763946
|
|
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter)
|
rs2054212444
|
|
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)
|
rs2141881607
|
|
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)
|
rs797044912
|
|
NM_001271.4(CHD2):c.5234C>G (p.Ser1745Cys)
|
rs2141761439
|
|
NM_001271.4(CHD2):c.693-1G>A
|
rs2053387699
|
|
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs)
|
rs1926261579
|
|
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)
|
rs786204967
|
|
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs)
|
rs2147160726
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs)
|
rs1926298368
|
|
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter)
|
rs1926301954
|
|
NM_001323289.2(CDKL5):c.2047-2A>C
|
rs1926471092
|
|
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del)
|
rs1926618813
|
|
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter)
|
rs1927139054
|
|
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly)
|
rs1925574557
|
|
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
|
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.601del (p.Glu203fs)
|
rs1925697105
|
|
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg)
|
rs1922607139
|
|
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter)
|
rs1925701271
|
|
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys)
|
rs1922801133
|
|
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs)
|
rs1926080187
|
|
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His)
|
rs1592390511
|
|
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
|
|
|
NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe)
|
rs1942779292
|
|
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser)
|
rs879255700
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser)
|
rs1057524820
|
|
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)
|
rs863225295
|
|
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys)
|
rs1942829767
|
|
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs)
|
rs2138862858
|
|
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp)
|
rs879255703
|
|
NM_001330260.2(SCN8A):c.2901+1G>C
|
rs1942832440
|
|
NM_001330260.2(SCN8A):c.2965G>T (p.Asp989Tyr)
|
rs1942878547
|
|
NM_001330260.2(SCN8A):c.3130T>C (p.Cys1044Arg)
|
rs1942882733
|
|
NM_001330260.2(SCN8A):c.3154G>A (p.Asp1052Asn)
|
rs1942883632
|
|
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)
|
rs1942911383
|
|
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)
|
rs794727361
|
|
NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter)
|
rs1555228329
|
|
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser)
|
rs796053215
|
|
NM_001330260.2(SCN8A):c.4587G>T (p.Met1529Ile)
|
|
|
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile)
|
rs587780454
|
|
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu)
|
rs587777721
|
|
NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr)
|
rs996870199
|
|
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn)
|
rs1023188648
|
|
NM_001330260.2(SCN8A):c.5181C>A (p.His1727Gln)
|
rs1057519190
|
|
NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln)
|
rs1938732126
|
|
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe)
|
rs1064793923
|
|
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=)
|
rs1556347185
|
|
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)
|
|
|
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer)
|
rs2050407403
|
|
NM_001365999.1(SZT2):c.1858C>G (p.Leu620Val)
|
|
|
NM_001365999.1(SZT2):c.185G>C (p.Ser62Thr)
|
rs2153929670
|
|
NM_001365999.1(SZT2):c.3424A>C (p.Thr1142Pro)
|
|
|
NM_001365999.1(SZT2):c.7936C>T (p.Arg2646Trp)
|
rs906119040
|
|
NM_001365999.1(SZT2):c.8659C>T (p.Arg2887Ter)
|
rs200178393
|
|
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)
|
rs745420974
|
|
NM_001367561.1(DOCK7):c.2977T>C (p.Trp993Arg)
|
rs1645575152
|
|
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)
|
|
|
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp)
|
rs1568994522
|
|
NM_001958.5(EEF1A2):c.1145G>C (p.Arg382Pro)
|
|
|
NM_001958.5(EEF1A2):c.490G>A (p.Glu164Lys)
|
rs2145944822
|
|
NM_002641.4(PIGA):c.1261G>C (p.Gly421Arg)
|
rs771058274
|
|
NM_002641.4(PIGA):c.342G>T (p.Arg114Ser)
|
rs1569180012
|
|
NM_003705.5(SLC25A12):c.225del (p.Glu76fs)
|
rs1685036155
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr)
|
rs1835101754
|
|
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro)
|
rs2131061484
|
|
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
|
|
|
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr)
|
rs1834792032
|
|
NM_004408.4(DNM1):c.958G>C (p.Asp320His)
|
rs1588368840
|
|
NM_004603.4(STX1A):c.284-1G>A
|
rs2116737208
|
|
NM_004603.4(STX1A):c.668_670del (p.Val223del)
|
rs2116730968
|
|
NM_004603.4(STX1A):c.722_724del (p.Val241del)
|
rs2116724168
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe)
|
rs1553181257
|
|
NM_004974.4(KCNA2):c.551C>T (p.Thr184Ile)
|
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter)
|
rs1984251749
|
|
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys)
|
rs1569017123
|
|
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu)
|
rs1569017114
|
|
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
|
rs959316981
|
|
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)
|
rs1984243311
|
|
NM_004975.4(KCNB1):c.2130del (p.Cys710fs)
|
|
|
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys)
|
rs202170806
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)
|
rs1984262011
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)
|
rs1555889127
|
|
NM_004975.4(KCNB1):c.950T>C (p.Leu317Pro)
|
|
|
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs)
|
rs1555321405
|
|
NM_005249.5(FOXG1):c.1141del (p.Ala381fs)
|
rs2138662009
|
|
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter)
|
rs138747073
|
|
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter)
|
rs786204999
|
|
NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter)
|
rs786205000
|
|
NM_005249.5(FOXG1):c.156_160del (p.His52fs)
|
rs1881779084
|
|
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter)
|
rs1555321237
|
|
NM_005249.5(FOXG1):c.222_223dup (p.Pro75fs)
|
rs2138660395
|
|
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
|
rs398124202
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.256dup (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs)
|
rs587783635
|
|
NM_005249.5(FOXG1):c.298del (p.Gln100fs)
|
rs587783636
|
|
NM_005249.5(FOXG1):c.385del (p.Glu129fs)
|
rs2138660748
|
|
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter)
|
rs1057520663
|
|
NM_005249.5(FOXG1):c.430G>T (p.Glu144Ter)
|
rs797045583
|
|
NM_005249.5(FOXG1):c.460del (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs)
|
rs786205003
|
|
NM_005249.5(FOXG1):c.506del (p.Gly169fs)
|
rs1452295073
|
|
NM_005249.5(FOXG1):c.506dup (p.Lys170fs)
|
rs1452295073
|
|
NM_005249.5(FOXG1):c.515_577del (p.Gly172_Met192del)
|
rs2138661060
|
|
NM_005249.5(FOXG1):c.515dup (p.Glu173fs)
|
rs2138661058
|
|
NM_005249.5(FOXG1):c.517G>T (p.Glu173Ter)
|
rs2138661070
|
|
NM_005249.5(FOXG1):c.537C>G (p.Tyr179Ter)
|
rs1555321301
|
|
NM_005249.5(FOXG1):c.543G>C (p.Lys181Asn)
|
rs767961672
|
|
NM_005249.5(FOXG1):c.545C>A (p.Pro182Gln)
|
rs796052461
|
|
NM_005249.5(FOXG1):c.552dup (p.Ser185fs)
|
rs786205004
|
|
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys)
|
rs879255530
|
|
NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp)
|
rs2138661139
|
|
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys)
|
rs796052462
|
|
NM_005249.5(FOXG1):c.565C>T (p.Leu189Phe)
|
rs1555321308
|
|
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg)
|
rs2138661161
|
|
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr)
|
rs786205005
|
|
NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser)
|
rs2138661171
|
|
NM_005249.5(FOXG1):c.586C>T (p.Gln196Ter)
|
rs796052463
|
|
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile)
|
rs1881802605
|
|
NM_005249.5(FOXG1):c.592_594del (p.Pro198del)
|
rs2138661203
|
|
NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)
|
|
|
NM_005249.5(FOXG1):c.611_618del (p.Leu204fs)
|
rs2138661224
|
|
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter)
|
rs267606826
|
|
NM_005249.5(FOXG1):c.643T>A (p.Phe215Ile)
|
|
|
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu)
|
rs267606828
|
|
NM_005249.5(FOXG1):c.651C>G (p.Tyr217Ter)
|
rs796052464
|
|
NM_005249.5(FOXG1):c.680A>G (p.Asn227Ser)
|
|
|
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys)
|
rs786205012
|
|
NM_005249.5(FOXG1):c.683C>G (p.Ser228Cys)
|
|
|
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro)
|
rs786205008
|
|
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys)
|
rs786205009
|
|
NM_005249.5(FOXG1):c.732_741del (p.His245fs)
|
rs1555321345
|
|
NM_005249.5(FOXG1):c.735del (p.Tyr246fs)
|
rs2138661448
|
|
NM_005249.5(FOXG1):c.755G>A (p.Gly252Asp)
|
rs587783640
|
|
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val)
|
rs587783640
|
|
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)
|
rs587783641
|
|
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter)
|
rs587783642
|
|
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter)
|
rs121913678
|
|
NM_005249.5(FOXG1):c.921C>G (p.Tyr307Ter)
|
rs2138661742
|
|
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter)
|
rs267606827
|
|
NM_005249.5(FOXG1):c.969del (p.Ser323fs)
|
rs786205011
|
|
NM_005249.5(FOXG1):c.974dup (p.Leu325fs)
|
rs2138661811
|
|
NM_006160.4(NEUROD2):c.400A>G (p.Met134Val)
|
|
|
NM_006178.4(NSF):c.1078G>T (p.Gly360Cys)
|
|
|
NM_006306.4(SMC1A):c.1072_1073del (p.Gln359fs)
|
rs2146604738
|
|
NM_006306.4(SMC1A):c.2076del (p.Lys692fs)
|
rs2146599361
|
|
NM_006306.4(SMC1A):c.3040C>T (p.Gln1014Ter)
|
|
|
NM_006586.5(CNPY3):c.548del (p.Asn183fs)
|
|
|
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)
|
rs1553851860
|
|
NM_006922.4(SCN3A):c.1032-7C>T
|
rs1688994875
|
|
NM_006922.4(SCN3A):c.2564T>C (p.Leu855Pro)
|
rs2105776898
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_006922.4(SCN3A):c.2653C>T (p.Leu885Phe)
|
rs2105772689
|
|
NM_006922.4(SCN3A):c.2727A>T (p.Lys909Asn)
|
|
|
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)
|
rs1057520753
|
|
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg)
|
rs755159935
|
|
NM_006922.4(SCN3A):c.4457C>T (p.Thr1486Ile)
|
rs2105636234
|
|
NM_006922.4(SCN3A):c.4518del (p.Lys1506fs)
|
rs2105635851
|
|
NM_006922.4(SCN3A):c.481T>C (p.Phe161Leu)
|
rs1401610497
|
|
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln)
|
rs1199412903
|
|
NM_006922.4(SCN3A):c.4937T>C (p.Phe1646Ser)
|
rs2105621618
|
|
NM_006922.4(SCN3A):c.5006A>G (p.Tyr1669Cys)
|
rs2105621335
|
|
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)
|
rs2105619771
|
|
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)
|
rs1553517274
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007254.4(PNKP):c.311T>C (p.Leu104Pro)
|
rs1159790949
|
|
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)
|
rs1554616628
|
|
NM_014334.4(FRRS1L):c.431del (p.Val144fs)
|
rs1831271059
|
|
NM_014905.5(GLS):c.241C>T (p.Gln81Ter)
|
rs1559310284
|
|
NM_014905.5(GLS):c.695dup (p.Asp232fs)
|
rs1558971345
|
|
NM_014905.5(GLS):c.815G>A (p.Arg272Lys)
|
rs1558972120
|
|
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys)
|
rs1779473213
|
|
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)
|
rs1563292586
|
|
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)
|
rs1554504681
|
|
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln)
|
rs1554504684
|
|
NM_015213.4(DENND5A):c.1411C>T (p.Arg471Trp)
|
|
|
NM_015213.4(DENND5A):c.3388C>T (p.Arg1130Ter)
|
|
|
NM_016188.5(ACTL6B):c.1000G>C (p.Asp334His)
|
rs1803830368
|
|
NM_016373.4(WWOX):c.107+2_107+5del
|
rs1555532979
|
|
NM_016373.4(WWOX):c.184G>T (p.Gly62Ter)
|
rs775696083
|
|
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg)
|
rs2083042603
|
|
NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del
|
|
|
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter)
|
rs2140715275
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)
|
rs886041691
|
|
NM_020822.3(KCNT1):c.2390G>T (p.Gly797Val)
|
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
NM_020988.3(GNAO1):c.151A>G (p.Lys51Glu)
|
rs2143272241
|
|
NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg)
|
rs546569747
|
|
NM_021072.4(HCN1):c.1012-3C>T
|
rs1739694635
|
|
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr)
|
rs1739691061
|
|
NM_021072.4(HCN1):c.1562G>T (p.Gly521Val)
|
rs1745671912
|
|
NM_022080.3(NAPB):c.173G>A (p.Trp58Ter)
|
rs1984959750
|
|
NM_022786.3(ARV1):c.292_294+1del
|
rs1679141808
|
|
NM_030948.6(PHACTR1):c.1256G>C (p.Cys419Ser)
|
rs1468591163
|
|
NM_031844.3(HNRNPU):c.1064A>T (p.Asp355Val)
|
rs1680764764
|
|
NM_031844.3(HNRNPU):c.1230+1G>C
|
rs2102987091
|
|
NM_031844.3(HNRNPU):c.1614+2T>A
|
|
|
NM_130811.4(SNAP25):c.114+2T>G
|
rs2123019421
|
|
NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu)
|
rs2123063802
|
|
NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg)
|
rs2123063830
|
|
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)
|
rs797044873
|
|
NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser)
|
rs2123063984
|
|
NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg)
|
rs2123120184
|
|
NM_130811.4(SNAP25):c.176G>C (p.Arg59Pro)
|
rs2064035728
|
|
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro)
|
rs2064035939
|
|
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)
|
rs1555794286
|
|
NM_130811.4(SNAP25):c.212T>C (p.Met71Thr)
|
rs2123120544
|
|
NM_130811.4(SNAP25):c.220G>A (p.Ala74Thr)
|
rs1600775326
|
|
NM_130811.4(SNAP25):c.464del (p.Gly155fs)
|
rs2123158973
|
|
NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr)
|
rs2123159234
|
|
NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly)
|
rs2123159261
|
|
NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter)
|
rs2123159470
|
|
NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro)
|
rs2123159524
|
|
NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr)
|
rs2123205099
|
|
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter)
|
rs2064355122
|
|
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)
|
rs2064355563
|
|
NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)
|
|
|
NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly)
|
rs2123205311
|
|
NM_130811.4(SNAP25):c.596C>T (p.Ala199Val)
|
rs2123205311
|
|
NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter)
|
rs2123205373
|
|
NM_130811.4(SNAP25):c.72+1G>A
|
rs2123003858
|
|
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)
|
rs104894743
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)
|
rs2048683301
|
|
NM_139058.3(ARX):c.1522G>A (p.Val508Met)
|
rs2048670414
|
|
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser)
|
rs747042039
|
|
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg)
|
rs2048668859
|
|
NM_139058.3(ARX):c.370G>T (p.Glu124Ter)
|
rs2147324296
|
|
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)
|
rs757588621
|
|
NM_139058.3(ARX):c.946G>A (p.Gly316Ser)
|
rs2048708756
|
|
NM_139058.3(ARX):c.989G>A (p.Arg330His)
|
rs886039308
|
|
NM_139318.5(KCNH5):c.980G>A (p.Arg327His)
|
rs587777164
|
|
NM_152268.4(PARS2):c.1129C>T (p.Pro377Ser)
|
rs377345733
|
|
NM_152268.4(PARS2):c.340G>A (p.Gly114Ser)
|
rs778638516
|
|
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)
|
rs2081071796
|
|
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)
|
rs2080906453
|
|
NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val)
|
rs2080905274
|
|
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs)
|
rs118192222
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser)
|
rs2080187424
|
|
NM_172107.4(KCNQ2):c.297-1G>C
|
rs2081442293
|
|
NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe)
|
rs796052617
|
|
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys)
|
rs1568940442
|
|
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)
|
rs74315391
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr)
|
rs1057516093
|
|
NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser)
|
rs1057516093
|
|
NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp)
|
rs2081189736
|
|
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg)
|
rs1057518500
|
|
NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser)
|
rs796052633
|
|
NM_172107.4(KCNQ2):c.816+2T>A
|
rs2081186625
|
|
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser)
|
rs2081101244
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
NM_177550.5(SLC13A5):c.369-2A>G
|
rs1973796030
|
|
NM_198503.5(KCNT2):c.569G>A (p.Arg190His)
|
rs1572547466
|
|
NM_198503.5(KCNT2):c.569G>C (p.Arg190Pro)
|
rs1572547466
|
|
NM_198503.5(KCNT2):c.862G>T (p.Gly288Ter)
|
|
|
NM_198903.2:c.-61_889+60del
|
|
|
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val)
|
rs2113651364
|
|
NM_198904.4(GABRG2):c.1403A>G (p.Tyr468Cys)
|
rs749946230
|
|
NM_198904.4(GABRG2):c.416G>A (p.Ser139Asn)
|
rs2113325887
|
|