NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
NM_133443.4(GPT2):c.286G>A (p.Gly96Arg)
|
rs778445616
|
0.00014
|
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)
|
rs766372684
|
0.00010
|
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn)
|
rs199583537
|
0.00008
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly)
|
rs139719918
|
0.00006
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
NM_006765.4(TUSC3):c.714A>G (p.Ile238Met)
|
rs773936260
|
0.00005
|
NM_006946.4(SPTBN2):c.4444C>T (p.Arg1482Trp)
|
rs373270554
|
0.00004
|
NM_177939.3(P4HTM):c.1238C>T (p.Pro413Leu)
|
rs757914897
|
0.00003
|
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)
|
rs375876694
|
0.00002
|
NM_002860.4(ALDH18A1):c.2186A>T (p.Asp729Val)
|
rs770249022
|
0.00002
|
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys)
|
rs761934754
|
0.00002
|
NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr)
|
rs758546717
|
0.00002
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)
|
rs1859965098
|
0.00001
|
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)
|
rs369691608
|
0.00001
|
NM_001371727.1(GABRB2):c.862A>G (p.Ile288Val)
|
rs1021186046
|
0.00001
|
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu)
|
rs756802179
|
0.00001
|
NM_015330.6(SPECC1L):c.1900C>T (p.Arg634Ter)
|
rs200870836
|
0.00001
|
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
|
rs762972459
|
0.00001
|
NM_022041.4(GAN):c.1055A>G (p.Asn352Ser)
|
rs779203584
|
0.00001
|
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)
|
rs782072593
|
0.00001
|
GRCh37/hg19 3q26.31-26.32(chr3:175507453-177095072)
|
|
|
GRCh37/hg19 Xq24(chrX:119660616-119681095)x1
|
|
|
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)
|
|
|
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1
|
|
|
GRCh38/hg38 Xq12(chrX:68203479-68224263)x2
|
|
|
NC_000001.11:g.153812287_153823987del
|
|
|
NC_000020.11:g.(?_508451)_(508551_?)del
|
|
|
NC_000021.9:g.33542069_33544417del
|
|
|
NC_000023.10:g.11600773_12249902del649130
|
|
|
NC_000023.10:g.11633731_11797224del163494
|
|
|
NC_000023.10:g.[(?_29619835)_(29843303_?);(?_30646799)_(30848980_?)dup]
|
|
|
NM_000240.4(MAOA):c.233dup (p.Leu78fs)
|
rs2033551253
|
|
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)
|
rs121434489
|
|
NM_000430.4(PAFAH1B1):c.282G>A (p.Trp94Ter)
|
rs2151660977
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000521.4:c.1_669del
|
|
|
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
rs1571818248
|
|
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly)
|
rs1556270312
|
|
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)
|
rs1653241392
|
|
NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro)
|
rs2060536584
|
|
NM_000814.6(GABRB3):c.674T>G (p.Phe225Cys)
|
rs1890742227
|
|
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)
|
rs797045045
|
|
NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser)
|
rs1555050158
|
|
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp)
|
rs1555050165
|
|
NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly)
|
rs1555050171
|
|
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val)
|
rs1555050174
|
|
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro)
|
rs765556214
|
|
NM_000834.5(GRIN2B):c.1022A>T (p.Asn341Ile)
|
rs1950069464
|
|
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
|
|
|
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His)
|
rs672601378
|
|
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg)
|
rs1949320254
|
|
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)
|
rs1555103971
|
|
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys)
|
rs1085307547
|
|
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs)
|
rs398122823
|
|
NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter)
|
rs2151652750
|
|
NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter)
|
rs1173681603
|
|
NM_001005273.3(CHD3):c.1369G>T (p.Glu457Ter)
|
rs1567844992
|
|
NM_001005273.3(CHD3):c.2657A>G (p.His886Arg)
|
rs1567855081
|
|
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe)
|
rs1567855669
|
|
NM_001005273.3(CHD3):c.2761G>A (p.Glu921Lys)
|
rs1567855704
|
|
NM_001005273.3(CHD3):c.2882G>A (p.Gly961Glu)
|
rs1567856045
|
|
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp)
|
rs1555611722
|
|
NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln)
|
rs1567856331
|
|
NM_001005273.3(CHD3):c.3322GGT[1] (p.Gly1109del)
|
rs1567859975
|
|
NM_001005273.3(CHD3):c.3357_3358delinsTC (p.Asp1120His)
|
rs1567860075
|
|
NM_001005273.3(CHD3):c.3362G>C (p.Arg1121Pro)
|
rs1567860112
|
|
NM_001005273.3(CHD3):c.3407C>T (p.Thr1136Ile)
|
rs1567860640
|
|
NM_001005273.3(CHD3):c.3472T>C (p.Trp1158Arg)
|
rs1567860891
|
|
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys)
|
rs754919272
|
|
NM_001005273.3(CHD3):c.3482A>G (p.His1161Arg)
|
rs1567860919
|
|
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp)
|
rs1567861468
|
|
NM_001005273.3(CHD3):c.3512A>G (p.His1171Arg)
|
rs1567861489
|
|
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)
|
rs1567861501
|
|
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro)
|
rs1567861571
|
|
NM_001005273.3(CHD3):c.3707T>C (p.Leu1236Pro)
|
rs1567861894
|
|
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln)
|
rs1567863732
|
|
NM_001005273.3(CHD3):c.4073-2A>G
|
rs1567864750
|
|
NM_001005273.3(CHD3):c.5642G>T (p.Arg1881Leu)
|
rs1567877108
|
|
NM_001005273.3(CHD3):c.5802_5803insGAAC (p.Phe1935fs)
|
rs1567878511
|
|
NM_001008537.3(NEXMIF):c.1635_1636del (p.Asn546fs)
|
rs2080112105
|
|
NM_001008537.3(NEXMIF):c.3630del (p.Lys1210fs)
|
rs778917289
|
|
NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly)
|
rs1553130904
|
|
NM_001012614.2(CTBP1):c.125_127del (p.Phe42del)
|
rs1731781760
|
|
NM_001015877.2(PHF6):c.1022A>G (p.Glu341Gly)
|
rs2077504269
|
|
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys)
|
rs1602537958
|
|
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly)
|
rs1841140785
|
|
NM_001032221.6(STXBP1):c.660_661del (p.Glu221fs)
|
rs1841239642
|
|
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
|
rs1588324025
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001032382.2(PQBP1):c.731C>T (p.Pro244Leu)
|
rs878853145
|
|
NM_001040142.2(SCN2A):c.4082G>A (p.Gly1361Asp)
|
rs1701224556
|
|
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
|
rs796053138
|
|
NM_001040142.2(SCN2A):c.4959G>C (p.Leu1653Phe)
|
rs1702008760
|
|
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val)
|
rs1553567864
|
|
NM_001040616.3(LINS1):c.431del (p.Leu144fs)
|
rs764442764
|
|
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)
|
rs1567139896
|
|
NM_001080517.3(SETD5):c.1877C>G (p.Ser626Ter)
|
rs2042188851
|
|
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)
|
rs764610550
|
|
NM_001083961.2(WDR62):c.2520+5G>T
|
rs754976942
|
|
NM_001083961.2(WDR62):c.3361del (p.Ala1121fs)
|
rs1973468140
|
|
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del)
|
rs1599375711
|
|
NM_001098621.4(LYSET):c.216dup (p.His73fs)
|
rs1894051550
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101.5(ACTB):c.173C>T (p.Ala58Val)
|
rs1784832575
|
|
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr)
|
rs1562720119
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.799C>G (p.Arg267Gly)
|
rs61749721
|
|
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter)
|
rs1602284689
|
|
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp)
|
rs267607186
|
|
NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs)
|
|
|
NM_001127644.2(GABRA1):c.888G>T (p.Leu296Phe)
|
rs1173578471
|
|
NM_001127644.2(GABRA1):c.922G>A (p.Ala308Thr)
|
rs1755334003
|
|
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg)
|
rs1596476657
|
|
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)
|
rs753203288
|
|
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys)
|
rs1445802934
|
|
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)
|
rs2044762657
|
|
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln)
|
rs2059194330
|
|
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn)
|
rs2049489016
|
|
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)
|
rs794726770
|
|
NM_001171613.2(PREPL):c.1827+5G>A
|
rs1672986669
|
|
NM_001172509.2(SATB2):c.598-2A>G
|
rs1574554519
|
|
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala)
|
rs1928459143
|
|
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)
|
rs587784300
|
|
NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu)
|
rs1671446564
|
|
NM_001197104.2(KMT2A):c.4012+1del
|
rs1950143446
|
|
NM_001197104.2(KMT2A):c.9440C>T (p.Ser3147Phe)
|
rs1950562472
|
|
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)
|
rs1554434435
|
|
NM_001220.5(CAMK2B):c.885_902dup (p.Asn295_Leu300dup)
|
rs2096680726
|
|
NM_001220.5(CAMK2B):c.903+1G>A
|
rs1554385102
|
|
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs)
|
rs1601970168
|
|
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)
|
rs879253976
|
|
NM_001252024.2(TRPM1):c.1623+1G>A
|
rs2033825467
|
|
NM_001271.4(CHD2):c.1940C>T (p.Thr647Ile)
|
rs2053619599
|
|
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del)
|
rs2053946125
|
|
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro)
|
rs2053946404
|
|
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer)
|
rs1064796496
|
|
NM_001271.4(CHD2):c.4138-1G>A
|
rs2054265721
|
|
NM_001271.4(CHD2):c.4173del (p.Lys1391fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter)
|
rs1555439545
|
|
NM_001278116.2(L1CAM):c.3226A>C (p.Thr1076Pro)
|
rs2064692485
|
|
NM_001282531.3(ADNP):c.-89-3923_201+2793inv
|
|
|
NM_001287491.2(TET3):c.2722G>T (p.Val908Leu)
|
rs1227643933
|
|
NM_001303052.2(MYT1L):c.1570C>A (p.His524Asn)
|
rs2052976421
|
|
NM_001303052.2(MYT1L):c.1678C>T (p.His560Tyr)
|
rs1558371790
|
|
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)
|
rs878853045
|
|
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)
|
rs1253072668
|
|
NM_001303052.2(MYT1L):c.682A>G (p.Asn228Asp)
|
rs2053776375
|
|
NM_001318510.2(ACSL4):c.1712T>G (p.Val571Gly)
|
rs1603401125
|
|
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr)
|
rs1060505033
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg)
|
rs2148613074
|
|
NM_001348323.3(TRIP12):c.3586C>T (p.Gln1196Ter)
|
rs2043168875
|
|
NM_001348323.3(TRIP12):c.4053_4054del (p.Ala1352fs)
|
rs2041937196
|
|
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter)
|
rs1574994308
|
|
NM_001348800.3(ZBTB20):c.1499_1511del (p.Ile500fs)
|
rs2108202536
|
|
NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs)
|
rs1576288424
|
|
NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His)
|
rs1576028676
|
|
NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly)
|
rs869025202
|
|
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
|
rs797045586
|
|
NM_001349338.3(FOXP1):c.1652+5G>C
|
rs794727216
|
|
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
|
|
|
NM_001352913.2(PPP2R5C):c.529G>A (p.Glu177Lys)
|
rs1595460164
|
|
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser)
|
rs2066265350
|
|
NM_001356.5(DDX3X):c.1343T>A (p.Val448Glu)
|
rs2063922414
|
|
NM_001356.5(DDX3X):c.1543A>G (p.Asn515Asp)
|
rs2063928003
|
|
NM_001356.5(DDX3X):c.543+3_543+6del
|
rs2063869050
|
|
NM_001365902.3(NFIX):c.316T>C (p.Ser106Pro)
|
rs2013246660
|
|
NM_001365902.3(NFIX):c.477dup (p.Gly160fs)
|
rs2013265950
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu)
|
rs2147495667
|
|
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg)
|
rs2067197219
|
|
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)
|
rs2067099763
|
|
NM_001367721.1(CASK):c.875_877del (p.Val292del)
|
rs2066559023
|
|
NM_001371727.1(GABRB2):c.151C>G (p.Leu51Val)
|
rs1760985866
|
|
NM_001371727.1(GABRB2):c.228A>T (p.Glu76Asp)
|
|
|
NM_001371727.1(GABRB2):c.672T>A (p.Phe224Leu)
|
rs2113408096
|
|
NM_001371727.1(GABRB2):c.775C>T (p.Leu259Phe)
|
|
|
NM_001371727.1(GABRB2):c.860C>T (p.Thr287Ile)
|
rs1753824440
|
|
NM_001371727.1(GABRB2):c.863T>C (p.Ile288Thr)
|
rs1064795444
|
|
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)
|
rs1554093891
|
|
NM_001371727.1(GABRB2):c.878G>A (p.Arg293Gln)
|
|
|
NM_001371727.1(GABRB2):c.895A>G (p.Ile299Val)
|
rs1580984895
|
|
NM_001371727.1(GABRB2):c.901T>C (p.Tyr301His)
|
rs2113397784
|
|
NM_001371727.1(GABRB2):c.907A>G (p.Lys303Glu)
|
|
|
NM_001371727.1(GABRB2):c.914T>C (p.Ile305Thr)
|
rs1753822503
|
|
NM_001371928.1(AHDC1):c.3078_3079insCA (p.Gly1027fs)
|
rs2019359088
|
|
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)
|
rs1779032666
|
|
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter)
|
rs1259041590
|
|
NM_001376.5(DYNC1H1):c.10973G>A (p.Gly3658Glu)
|
rs1595629181
|
|
NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys)
|
rs2047950288
|
|
NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg)
|
rs2047998539
|
|
NM_001376.5(DYNC1H1):c.4234C>T (p.His1412Tyr)
|
rs1595609005
|
|
NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His)
|
rs1236304133
|
|
NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)
|
rs2093873717
|
|
NM_001379451.1(BCORL1):c.3793C>T (p.Arg1265Cys)
|
rs1464137864
|
|
NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu)
|
rs2069582666
|
|
NM_001385012.1(NBEA):c.8322G>A (p.Trp2774Ter)
|
rs2153082059
|
|
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter)
|
rs1951071576
|
|
NM_001394998.1(TANC2):c.3765+1G>T
|
rs2048707664
|
|
NM_001650.7(AQP4):c.332G>C (p.Ser111Thr)
|
rs1555661648
|
|
NM_001852.4(COL9A2):c.1145G>T (p.Gly382Val)
|
rs1431787303
|
|
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer)
|
rs2073222422
|
|
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp)
|
rs1568994522
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
NM_002024.6(FMR1):c.673G>A (p.Val225Ile)
|
|
|
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)
|
rs1135401746
|
|
NM_002291.3(LAMB1):c.5002del (p.Glu1668fs)
|
rs1278743247
|
|
NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg)
|
rs1227804681
|
|
NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg)
|
rs1569459580
|
|
NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs)
|
rs2129224282
|
|
NM_002691.4(POLD1):c.3219C>G (p.Ser1073Arg)
|
rs2122521078
|
|
NM_002816.5(PSMD12):c.795+1G>A
|
rs2041974262
|
|
NM_002830.4(PTPN4):c.1738G>T (p.Asp580Tyr)
|
rs1679218434
|
|
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)
|
rs397507536
|
|
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)
|
rs989031241
|
|
NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg)
|
rs2055786277
|
|
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys)
|
rs1697264007
|
|
NM_003042.4(SLC6A1):c.695G>T (p.Gly232Val)
|
rs1697444014
|
|
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del)
|
rs1574907198
|
|
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln)
|
rs1586657848
|
|
NM_003070.5(SMARCA2):c.1538G>T (p.Gly513Val)
|
rs1586660338
|
|
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys)
|
rs1586660370
|
|
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His)
|
rs1586660381
|
|
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val)
|
rs1586660389
|
|
NM_003070.5(SMARCA2):c.1600G>A (p.Asp534Asn)
|
rs863224922
|
|
NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg)
|
rs1821584135
|
|
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp)
|
rs1554623112
|
|
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val)
|
rs1586692481
|
|
NM_003070.5(SMARCA2):c.2809C>T (p.Arg937Cys)
|
rs1586692548
|
|
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His)
|
rs1586692551
|
|
NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu)
|
rs1586692551
|
|
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys)
|
rs1823200345
|
|
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del)
|
rs1597665063
|
|
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu)
|
rs2038452898
|
|
NM_003470.3(USP7):c.1225_1243del (p.Phe409fs)
|
rs2141185978
|
|
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys)
|
rs1057524031
|
|
NM_003491.4(NAA10):c.248G>A (p.Arg83His)
|
rs1603290366
|
|
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
|
|
|
NM_003590.5(CUL3):c.743_744dup (p.Met249Ter)
|
rs1692824104
|
|
NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly)
|
|
|
NM_003805.5(CRADD):c.285dup (p.Asp96fs)
|
rs1555213545
|
|
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp)
|
rs1573589807
|
|
NM_003931.3(WASF1):c.136A>T (p.Lys46Ter)
|
rs778229060
|
|
NM_003995.4(NPR2):c.2266C>T (p.Gln756Ter)
|
rs1828368702
|
|
NM_004187.5(KDM5C):c.1606G>A (p.Gly536Arg)
|
rs2073528836
|
|
NM_004187.5(KDM5C):c.709C>T (p.Gln237Ter)
|
rs1602226289
|
|
NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr)
|
rs2051863859
|
|
NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro)
|
rs2051852330
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004535.3(MYT1):c.790G>C (p.Glu264Gln)
|
rs1983540456
|
|
NM_004586.3(RPS6KA3):c.1009A>G (p.Arg337Gly)
|
rs2067699201
|
|
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)
|
rs28935171
|
|
NM_004606.5(TAF1):c.2714G>A (p.Gly905Asp)
|
rs2034442612
|
|
NM_004606.5(TAF1):c.3184C>T (p.Arg1062Cys)
|
rs2034677583
|
|
NM_004606.5(TAF1):c.715G>A (p.Val239Met)
|
rs2033574124
|
|
NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly)
|
rs2068797192
|
|
NM_004830.4(MED23):c.953del (p.Glu318fs)
|
rs1776174152
|
|
NM_004879.5(EI24):c.742C>T (p.Pro248Ser)
|
rs1938981293
|
|
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn)
|
rs1569017160
|
|
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
|
rs959316981
|
|
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr)
|
rs1569017025
|
|
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter)
|
rs1569016820
|
|
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)
|
rs1555889127
|
|
NM_005087.4(FXR1):c.1772T>A (p.Ile591Asn)
|
rs754901294
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val)
|
rs587783640
|
|
NM_005313.5(PDIA3):c.170G>A (p.Cys57Tyr)
|
rs1555455456
|
|
NM_005402.4(RALA):c.73G>A (p.Val25Met)
|
rs1554297905
|
|
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)
|
rs886041239
|
|
NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile)
|
rs1830549152
|
|
NM_005859.5(PURA):c.159dup (p.Leu54fs)
|
rs1554129040
|
|
NM_005859.5(PURA):c.430A>G (p.Lys144Glu)
|
rs1581036396
|
|
NM_005881.4(BCKDK):c.646_649del (p.Asp216fs)
|
rs2057404166
|
|
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys)
|
rs1762178779
|
|
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
|
rs2075652085
|
|
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu)
|
rs1570600997
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.286del (p.Met96fs)
|
rs1643481930
|
|
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
|
rs1643480923
|
|
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
|
rs773339124
|
|
NM_006521.6(TFE3):c.566A>G (p.Tyr189Cys)
|
rs2064742830
|
|
NM_006565.4(CTCF):c.280C>T (p.Gln94Ter)
|
rs2052056277
|
|
NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs)
|
rs1553511226
|
|
NM_006734.4(HIVEP2):c.4036G>T (p.Gly1346Ter)
|
rs1775510548
|
|
NM_006734.4(HIVEP2):c.6617_6618del (p.Pro2206fs)
|
rs1774993424
|
|
NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser)
|
rs1760905358
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs)
|
rs1761049027
|
|
NM_006772.3(SYNGAP1):c.2294+1G>A
|
rs1554121970
|
|
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)
|
rs1554121202
|
|
NM_006940.4:c.1489-7709_1771+1399del
|
|
|
NM_006940.6(SOX5):c.559G>T (p.Glu187Ter)
|
rs1420871345
|
|
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter)
|
rs2057891984
|
|
NM_007118.4(TRIO):c.3908C>T (p.Thr1303Ile)
|
rs1746764895
|
|
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu)
|
rs1747667518
|
|
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)
|
rs752676391
|
|
NM_007327.4(GRIN1):c.1744C>A (p.Arg582Ser)
|
rs1833598160
|
|
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)
|
rs1833614590
|
|
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr)
|
rs1833635820
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)
|
rs2148715376
|
|
NM_012199.5(AGO1):c.2252A>T (p.His751Leu)
|
rs2148725560
|
|
NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe)
|
rs2148726029
|
|
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg)
|
rs1645264815
|
|
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys)
|
rs2148711374
|
|
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)
|
rs2148711383
|
|
NM_012199.5(AGO1):c.650-2A>G
|
rs1645271555
|
|
NM_012199.5(AGO1):c.758G>A (p.Arg253His)
|
rs1645273962
|
|
NM_012199.5(AGO1):c.760G>A (p.Val254Ile)
|
rs1645274152
|
|
NM_012213.3(MLYCD):c.1059dup (p.Leu354fs)
|
rs1907323150
|
|
NM_012309.5(SHANK2):c.2439+1G>A
|
rs2058899044
|
|
NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs)
|
rs2034490973
|
|
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs)
|
rs2034289118
|
|
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs)
|
rs2034054366
|
|
NM_013275.6(ANKRD11):c.6833_6834del (p.Thr2278fs)
|
rs2151733047
|
|
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)
|
rs1131691512
|
|
NM_013436.5(NCKAP1):c.155del (p.Asn52fs)
|
|
|
NM_014141.6(CNTNAP2):c.97+3A>T
|
rs1584757170
|
|
NM_014271.4(IL1RAPL1):c.697_698del (p.Val233fs)
|
rs1933958646
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014712.3(SETD1A):c.2330_2337del (p.Ala777fs)
|
rs2056144779
|
|
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)
|
rs886041989
|
|
NM_014927.5(CNKSR2):c.228+1G>A
|
|
|
NM_015021.3(ZNF292):c.1787_1790del (p.Ser596fs)
|
rs1775154516
|
|
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter)
|
rs865909396
|
|
NM_015021.3(ZNF292):c.3053dup (p.Gln1019fs)
|
rs1775236367
|
|
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
|
rs1301328139
|
|
NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs)
|
rs1654056152
|
|
NM_015100.4(POGZ):c.2400dup (p.Lys801fs)
|
rs1653809027
|
|
NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs)
|
rs1653807656
|
|
NM_015100.4(POGZ):c.2469del (p.Thr824fs)
|
rs1653766307
|
|
NM_015100.4(POGZ):c.2574del (p.His858fs)
|
rs1653647344
|
|
NM_015100.4(POGZ):c.3041del (p.Gln1014fs)
|
rs796052217
|
|
NM_015143.3(METAP1):c.865C>T (p.Arg289Ter)
|
rs779530889
|
|
NM_015335.5(MED13L):c.2345-3C>G
|
rs1592939069
|
|
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser)
|
rs1057524103
|
|
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)
|
rs2137307992
|
|
NM_015335.5(MED13L):c.392_395del (p.Glu131fs)
|
rs1874072493
|
|
NM_015335.5(MED13L):c.395+1G>A
|
rs1874072309
|
|
NM_015559.3(SETBP1):c.2516del (p.Pro839fs)
|
rs2071360713
|
|
NM_015559.3(SETBP1):c.556C>T (p.Gln186Ter)
|
rs2071295138
|
|
NM_015570.4(AUTS2):c.1245_1246del (p.Gln416fs)
|
rs1789811451
|
|
NM_015981.4(CAMK2A):c.598+2dup
|
rs1554122123
|
|
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)
|
rs137852214
|
|
NM_016032.4(ZDHHC9):c.881+1G>C
|
rs1927636898
|
|
NM_016148.5(SHANK1):c.1882_1883del (p.Lys628fs)
|
|
|
NM_016284.5(CNOT1):c.2318C>G (p.Ser773Ter)
|
rs2151940462
|
|
NM_016648.4(LARP7):c.1669-1_1671del
|
rs778909076
|
|
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)
|
rs768324201
|
|
NM_018026.4(PACS1):c.755C>T (p.Ser252Phe)
|
|
|
NM_018136.5(ASPM):c.9685del (p.Ile3229fs)
|
rs199422192
|
|
NM_018294.6(CWF19L1):c.949C>T (p.Gln317Ter)
|
rs1846799593
|
|
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
|
|
|
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp)
|
rs1603060007
|
|
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)
|
rs398122909
|
|
NM_018723.4(RBFOX1):c.1189T>G (p.Tyr397Asp)
|
|
|
NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter)
|
rs1890387347
|
|
NM_021956.5(GRIK2):c.808C>T (p.Arg270Ter)
|
rs1265340906
|
|
NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn)
|
rs1558650788
|
|
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)
|
rs1352259738
|
|
NM_022552.5(DNMT3A):c.705del (p.Glu235fs)
|
rs1675087282
|
|
NM_022893.4(BCL11A):c.1675_*1445del (p.Ser559fs)
|
|
|
NM_022893.4(BCL11A):c.55+1G>T
|
rs1670493597
|
|
NM_022893.4(BCL11A):c.977C>A (p.Thr326Lys)
|
rs1676326365
|
|
NM_024298.5(MBOAT7):c.251del (p.Leu84fs)
|
rs2076453977
|
|
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)
|
rs1057517933
|
|
NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter)
|
rs755371824
|
|
NM_024665.7(TBL1XR1):c.1496G>A (p.Gly499Glu)
|
rs1713131684
|
|
NM_024665.7(TBL1XR1):c.920A>G (p.His307Arg)
|
rs1716297832
|
|
NM_024725.4(CCDC82):c.67C>T (p.Arg23Ter)
|
|
|
NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs)
|
rs2067697776
|
|
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs)
|
rs2032172594
|
|
NM_030665.4(RAI1):c.3594G>T (p.Arg1198Ser)
|
rs2032257286
|
|
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)
|
rs1556912828
|
|
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn)
|
rs2067907694
|
|
NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del)
|
rs2067904283
|
|
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile)
|
rs2066881864
|
|
NM_031844.3(HNRNPU):c.596dup (p.Pro200fs)
|
rs1553283831
|
|
NM_031896.5(CACNG7):c.784A>G (p.Ile262Val)
|
rs778171763
|
|
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter)
|
rs2145342438
|
|
NM_032108.4(SEMA6B):c.481C>G (p.Leu161Val)
|
rs1490417837
|
|
NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs)
|
rs1722830922
|
|
NM_032293.5(GARNL3):c.869A>G (p.Gln290Arg)
|
rs764279982
|
|
NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg)
|
rs2073064247
|
|
NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys)
|
rs2124181878
|
|
NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter)
|
rs2073068605
|
|
NM_032539.5(SLITRK2):c.221T>C (p.Leu74Ser)
|
rs2124152159
|
|
NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter)
|
rs1599560256
|
|
NM_033028.5(BBS4):c.221-1047_405+2899del
|
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter)
|
rs1555906768
|
|
NM_078629.4(MSL3):c.1065_1066del (p.Ala356fs)
|
rs1555906781
|
|
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter)
|
rs1555907620
|
|
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs)
|
rs1555907623
|
|
NM_078629.4(MSL3):c.1381+1G>T
|
rs1555907626
|
|
NM_078629.4(MSL3):c.1436dup (p.Leu480fs)
|
rs1555907653
|
|
NM_078629.4(MSL3):c.1516_1517delinsA (p.Ala506fs)
|
rs1555907864
|
|
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro)
|
rs1555906707
|
|
NM_080425.4(GNAS):c.754_761del (p.Ser252fs)
|
rs2086303843
|
|
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter)
|
rs2056119926
|
|
NM_130839.5(UBE3A):c.2483G>A (p.Gly828Asp)
|
rs2074492359
|
|
NM_133433.4(NIPBL):c.6470A>G (p.Asp2157Gly)
|
rs1752883292
|
|
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)
|
rs2048683301
|
|
NM_152420.3(CARNMT1):c.230G>A (p.Gly77Asp)
|
rs1822581744
|
|
NM_152703.5(SAMD9L):c.2722A>G (p.Ile908Val)
|
rs1792226793
|
|
NM_171825.2(CAMK2A):c.65del
|
rs1554123982
|
|
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro)
|
rs2081190512
|
|
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)
|
|
|
NM_173495.3(PTCHD1):c.95C>G (p.Pro32Arg)
|
rs1569130365
|
|
NM_181303.2(NLGN3):c.1849C>T (p.Arg617Trp)
|
rs878853147
|
|
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)
|
rs773327091
|
|
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)
|
rs1695336858
|
|
NM_182641.4(BPTF):c.5587C>T (p.Arg1863Ter)
|
rs2063551300
|
|
NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter)
|
rs1562928193
|
|
NM_198428.3(BBS9):c.2153del (p.Gly718fs)
|
rs1369313123
|
|
NM_198880.3(QRICH1):c.914dup (p.Gly306fs)
|
rs2106905056
|
|
NM_198904.4(GABRG2):c.899C>A (p.Ala300Asp)
|
rs543339576
|
|
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)
|
rs796052510
|
|
Single allele
|
|
|
inv(X)(p22.2q28)
|
|
|