NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)
|
rs199624315
|
0.00013
|
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)
|
rs200059198
|
0.00012
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)
|
rs766910280
|
0.00004
|
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)
|
rs749975104
|
0.00004
|
NM_019023.5(PRMT7):c.224C>T (p.Thr75Met)
|
rs371698853
|
0.00003
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00002
|
NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp)
|
rs113094436
|
0.00002
|
NM_003359.4(UGDH):c.1328G>A (p.Arg443His)
|
rs1053767552
|
0.00002
|
NM_003359.4(UGDH):c.1228G>T (p.Ala410Ser)
|
rs770456604
|
0.00001
|
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)
|
rs369608407
|
0.00001
|
NM_003359.4(UGDH):c.764T>C (p.Ile255Thr)
|
rs1186496501
|
0.00001
|
NM_003359.4(UGDH):c.907G>A (p.Val303Ile)
|
rs1578265068
|
0.00001
|
NM_000217.3(KCNA1):c.1214C>A (p.Pro405His)
|
|
|
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe)
|
rs1057519550
|
|
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe)
|
rs1057519549
|
|
NM_000814.6(GABRB3):c.851T>G (p.Leu284Arg)
|
rs1595440453
|
|
NM_001032221.6(STXBP1):c.1082C>T (p.Thr361Ile)
|
rs1057518985
|
|
NM_001032221.6(STXBP1):c.1216C>G (p.Arg406Gly)
|
rs796053367
|
|
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)
|
rs1841769844
|
|
NM_001040142.2(SCN2A):c.164A>C (p.Asp55Ala)
|
rs1574525321
|
|
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val)
|
rs1057519526
|
|
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val)
|
rs796053130
|
|
NM_001040142.2(SCN2A):c.4031G>A (p.Cys1344Tyr)
|
rs1057519527
|
|
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr)
|
rs1057519524
|
|
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)
|
rs1057519528
|
|
NM_001127644.2(GABRA1):c.835G>T (p.Val279Leu)
|
|
|
NM_001165963.4(SCN1A):c.3612del (p.Trp1204fs)
|
|
|
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)
|
rs1553525337
|
|
NM_001165963.4(SCN1A):c.5469_5470del (p.Met1823fs)
|
|
|
NM_001184880.2(PCDH19):c.922G>T (p.Glu308Ter)
|
|
|
NM_001278512.2(AP3B2):c.1110+1G>C
|
rs1057519270
|
|
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=)
|
rs1057519269
|
|
NM_001323289.2(CDKL5):c.632T>C (p.Phe211Ser)
|
rs2147148081
|
|
NM_001330260.2(SCN8A):c.1099A>G (p.Met367Val)
|
rs796053209
|
|
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly)
|
rs1057519540
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
NM_001330260.2(SCN8A):c.4460A>T (p.Lys1487Met)
|
|
|
NM_002397.5(MEF2C):c.65C>G (p.Thr22Arg)
|
rs1580990072
|
|
NM_002641.4(PIGA):c.847A>G (p.Arg283Gly)
|
|
|
NM_003359.4(UGDH):c.1068T>G (p.Tyr356Ter)
|
rs1260191836
|
|
NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys)
|
rs1578264574
|
|
NM_003359.4(UGDH):c.125T>C (p.Ile42Thr)
|
rs1578282133
|
|
NM_003359.4(UGDH):c.1324C>T (p.Arg442Trp)
|
rs201894374
|
|
NM_003359.4(UGDH):c.1346A>G (p.His449Arg)
|
rs779324355
|
|
NM_003359.4(UGDH):c.214T>G (p.Ser72Ala)
|
rs769243823
|
|
NM_003359.4(UGDH):c.244G>A (p.Ala82Thr)
|
rs1578274054
|
|
NM_003359.4(UGDH):c.374T>C (p.Ile125Thr)
|
rs1578270476
|
|
NM_003359.4(UGDH):c.463C>T (p.Gln155Ter)
|
rs1381665298
|
|
NM_003359.4(UGDH):c.523C>G (p.Pro175Ala)
|
rs756467468
|
|
NM_003359.4(UGDH):c.651G>C (p.Glu217Asp)
|
rs1578269761
|
|
NM_003359.4(UGDH):c.70G>A (p.Ala24Thr)
|
rs1306655122
|
|
NM_003359.4(UGDH):c.811G>C (p.Gly271Arg)
|
rs1578269200
|
|
NM_003359.4(UGDH):c.916A>G (p.Met306Val)
|
rs1578265048
|
|
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro)
|
rs1555889108
|
|
NM_004975.4(KCNB1):c.1144G>A (p.Asp382Asn)
|
rs1555889090
|
|
NM_004975.4(KCNB1):c.1180G>A (p.Gly394Arg)
|
rs1569017073
|
|
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
|
rs959316981
|
|
NM_004975.4(KCNB1):c.128A>G (p.Glu43Gly)
|
rs1568658507
|
|
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile)
|
rs1569017257
|
|
NM_005458.8(GABBR2):c.1001C>T (p.Thr334Ile)
|
|
|
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)
|
rs1554689320
|
|
NM_005660.3(SLC35A2):c.500_509del (p.Leu167fs)
|
rs1057519000
|
|
NM_005859.5(PURA):c.98del (p.Gly33fs)
|
|
|
NM_006030.4(CACNA2D2):c.1778G>C (p.Arg593Pro)
|
rs1485894376
|
|
NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro)
|
rs1057519545
|
|
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)
|
rs780680047
|
|
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter)
|
rs759766243
|
|
NM_016373.4(WWOX):c.918del (p.Glu306fs)
|
rs1057518795
|
|
NM_016729.3(FOLR1):c.287G>A (p.Cys96Tyr)
|
rs1057518816
|
|
NM_017646.6(TRIT1):c.334del (p.Arg112fs)
|
rs536000212
|
|
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)
|
rs886041715
|
|
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)
|
rs1057519547
|
|
NM_021072.4(HCN1):c.459G>C (p.Met153Ile)
|
rs1057519548
|
|
NM_052874.5(STX1B):c.716C>T (p.Ser239Phe)
|
rs2143661479
|
|
NM_152269.5(MTRFR):c.248del (p.Val83fs)
|
rs587776508
|
|
NM_152296.5(ATP1A3):c.1048_1053del (p.Asn350_Leu351del)
|
rs1599719527
|
|
NM_153033.5(KCTD7):c.340G>T (p.Gly114Trp)
|
rs1584399108
|
|
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)
|
rs118192235
|
|
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)
|
rs1555850842
|
|
NM_172107.4(KCNQ2):c.590T>C (p.Leu197Pro)
|
rs1600786071
|
|
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)
|
rs1057516094
|
|
NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser)
|
rs1057519535
|
|
NM_177550.5(SLC13A5):c.1451del (p.Gly484fs)
|
rs1597653264
|
|
NM_177550.5(SLC13A5):c.332T>G (p.Leu111Arg)
|
rs1597676610
|
|