NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)
|
rs76675748
|
0.00361
|
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)
|
rs188762916
|
0.00109
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr)
|
rs143880787
|
0.00034
|
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe)
|
rs148150960
|
0.00031
|
NM_003705.5(SLC25A12):c.1171+17C>G
|
rs370591049
|
0.00014
|
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln)
|
rs149367932
|
0.00006
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
NM_001127222.2(CACNA1A):c.3989+11T>C
|
rs762686149
|
0.00004
|
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)
|
rs768048563
|
0.00003
|
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys)
|
rs200531434
|
0.00003
|
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly)
|
rs759661460
|
0.00003
|
NM_172107.4(KCNQ2):c.691-5C>T
|
rs886056921
|
0.00003
|
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)
|
rs2054687187
|
0.00002
|
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)
|
rs771906889
|
0.00002
|
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)
|
rs1005844306
|
0.00002
|
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His)
|
rs201796096
|
0.00002
|
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu)
|
rs1295966448
|
0.00001
|
NM_001323289.2(CDKL5):c.403+5G>A
|
rs1342864362
|
0.00001
|
NM_004204.5(PIGQ):c.690-2A>G
|
rs587777543
|
0.00001
|
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His)
|
rs1377524842
|
0.00001
|
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met)
|
rs1009967374
|
0.00001
|
NM_006586.5(CNPY3):c.734_737del (p.Gln245fs)
|
rs1197219692
|
0.00001
|
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu)
|
rs964772041
|
0.00001
|
NM_020988.3(GNAO1):c.723+4106A>G
|
rs1437835350
|
0.00001
|
NM_033453.4(ITPA):c.302A>G (p.His101Arg)
|
rs928104127
|
0.00001
|
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg)
|
rs748032685
|
0.00001
|
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
|
|
|
GRCh37/hg19 3q29(chr3:195457650-196263123)
|
|
|
GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)
|
|
|
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
|
|
|
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
|
|
|
GRCh37/hg19 Xp22.31(chrX:6488721-8097511)
|
|
|
NM_000330.4(RS1):c.185-3221G>A
|
rs374054249
|
|
NM_000814.6(GABRB3):c.461+15T>G
|
rs1892473260
|
|
NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn)
|
rs2081012243
|
|
NM_001100913.3(PACS2):c.2218T>A (p.Ser740Thr)
|
rs2081364319
|
|
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)
|
rs2058520816
|
|
NM_001127222.2(CACNA1A):c.1555+3_1555+6del
|
rs2058143459
|
|
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)
|
rs2057372365
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)
|
rs779292782
|
|
NM_001127222.2(CACNA1A):c.4089+18T>G
|
rs1600198282
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser)
|
rs1424508480
|
|
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu)
|
rs1455085342
|
|
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val)
|
rs764844675
|
|
NM_001130438.3(SPTAN1):c.364-3C>G
|
rs1851102695
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val)
|
rs1928413482
|
|
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln)
|
rs868697675
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001205293.3(CACNA1E):c.2105C>T (p.Ala702Val)
|
rs1654707104
|
|
NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn)
|
rs1662014050
|
|
NM_001271.4(CHD2):c.3734+20A>G
|
rs765676490
|
|
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His)
|
rs1427359303
|
|
NM_001271.4(CHD2):c.4963C>A (p.Pro1655Thr)
|
rs2054514484
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
NM_001330260.2(SCN8A):c.197C>A (p.Pro66His)
|
rs1940955829
|
|
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys)
|
rs1942828530
|
|
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn)
|
rs1023188648
|
|
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val)
|
rs2050412325
|
|
NM_001365999.1(SZT2):c.772+5G>A
|
rs1651690924
|
|
NM_002487.3(NDN):c.212A>G (p.Gln71Arg)
|
rs1891161078
|
|
NM_002487.3(NDN):c.472dup (p.Thr158fs)
|
rs1891151702
|
|
NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val)
|
rs1851035772
|
|
NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp)
|
rs1851499526
|
|
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs)
|
rs1676249686
|
|
NM_004667.6(HERC2):c.11701-1G>A
|
rs1891259083
|
|
NM_005249.5(FOXG1):c.254C>G (p.Pro85Arg)
|
rs1822450268
|
|
NM_005249.5(FOXG1):c.998C>T (p.Ala333Val)
|
rs1322496307
|
|
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup)
|
rs538005366
|
|
NM_016373.4(WWOX):c.16T>C (p.Tyr6His)
|
rs1239497096
|
|
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter)
|
rs759766243
|
|
NM_016373.4(WWOX):c.517C>T (p.His173Tyr)
|
rs777272586
|
|
NM_016373.4(WWOX):c.791+18A>T
|
rs1023123497
|
|
NM_016373.4(WWOX):c.918del (p.Glu306fs)
|
rs1057518795
|
|
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer)
|
rs1890356742
|
|
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu)
|
rs1267004913
|
|
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del)
|
rs779748148
|
|
NM_020708.5(SLC12A5):c.1689-7G>A
|
rs2084595386
|
|
NM_031844.3(HNRNPU):c.465G>T (p.Glu155Asp)
|
rs776778115
|
|
NM_031844.3(HNRNPU):c.470G>A (p.Gly157Glu)
|
rs1195258707
|
|
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.1828G>A (p.Glu610Lys)
|
rs1350422852
|
|
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)
|
rs762130930
|
|
NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser)
|
rs972841085
|
|
NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys)
|
rs796052658
|
|
NM_172107.4(KCNQ2):c.2272_2286del (p.Gly758_Ser762del)
|
rs2079961255
|
|
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly)
|
rs1568858969
|
|
NM_173354.5(SIK1):c.1430T>G (p.Val477Gly)
|
rs2081044918
|
|
NM_198904.4(GABRG2):c.787T>C (p.Ser263Pro)
|
rs1764617485
|
|
NM_203446.3(SYNJ1):c.1625T>G (p.Val542Gly)
|
rs2041281036
|
|