NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)
|
rs6647476
|
0.54054
|
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)
|
rs12849161
|
0.00922
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)
|
rs139964770
|
0.00042
|
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)
|
rs140334007
|
0.00039
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly)
|
rs782051125
|
0.00026
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu)
|
rs141738108
|
0.00014
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00008
|
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)
|
rs752026201
|
0.00007
|
NM_001127178.3(PIGG):c.589A>G (p.Arg197Gly)
|
rs151220901
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_017755.6(NSUN2):c.2026G>A (p.Val676Ile)
|
rs773052587
|
0.00006
|
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile)
|
rs200519753
|
0.00006
|
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)
|
rs371500701
|
0.00006
|
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)
|
rs750153892
|
0.00004
|
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu)
|
rs201846240
|
0.00004
|
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)
|
rs750459659
|
0.00004
|
NM_000548.5(TSC2):c.454C>G (p.His152Asp)
|
rs397515285
|
0.00003
|
NM_001281503.2(SLITRK1):c.*689G>A
|
rs191284403
|
0.00003
|
NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe)
|
rs768225923
|
0.00003
|
NM_003805.5(CRADD):c.503G>A (p.Arg168Gln)
|
rs563879626
|
0.00003
|
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr)
|
rs1416942996
|
0.00003
|
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)
|
rs201002323
|
0.00003
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00002
|
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met)
|
rs767406620
|
0.00002
|
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys)
|
rs1064795656
|
0.00002
|
NM_002074.5(GNB1):c.727A>G (p.Thr243Ala)
|
rs1394767075
|
0.00002
|
NM_007325.5(GRIA3):c.609G>T (p.Arg203Ser)
|
rs147567539
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)
|
rs767713084
|
0.00002
|
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys)
|
rs766646613
|
0.00002
|
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg)
|
rs397515191
|
0.00001
|
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)
|
rs201206500
|
0.00001
|
NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His)
|
rs1203955457
|
0.00001
|
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser)
|
rs782624844
|
0.00001
|
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)
|
rs886041516
|
0.00001
|
NM_001244008.2(KIF1A):c.5024C>T (p.Pro1675Leu)
|
rs779705838
|
0.00001
|
NM_001303052.2(MYT1L):c.1184T>C (p.Val395Ala)
|
rs1335226719
|
0.00001
|
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)
|
rs199692678
|
0.00001
|
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)
|
rs752746786
|
0.00001
|
NM_002139.4(RBMX):c.296C>T (p.Pro99Leu)
|
rs1241455828
|
0.00001
|
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu)
|
rs1556832824
|
0.00001
|
NM_004187.5(KDM5C):c.659C>T (p.Pro220Leu)
|
rs2073736194
|
0.00001
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln)
|
rs762905361
|
0.00001
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg)
|
rs1471479119
|
0.00001
|
NM_007118.4(TRIO):c.8119C>T (p.Arg2707Ter)
|
rs747166529
|
0.00001
|
NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu)
|
rs753807510
|
0.00001
|
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser)
|
rs746894472
|
0.00001
|
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)
|
rs372375423
|
0.00001
|
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter)
|
rs1239725461
|
0.00001
|
NM_020987.5(ANK3):c.8746A>G (p.Ile2916Val)
|
rs375389082
|
0.00001
|
NM_030665.4(RAI1):c.3478C>T (p.Arg1160Trp)
|
rs761044841
|
0.00001
|
NM_152641.4(ARID2):c.5359C>T (p.Arg1787Cys)
|
rs1457405698
|
0.00001
|
GRCh37/hg19 14q12(chr14:28688830-30017377)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
|
|
|
GRCh37/hg19 2q33.1(chr2:200188260-200214121)x1
|
|
|
GRCh37/hg19 3p13(chr3:71021211-71181046)x1
|
|
|
GRCh37/hg19 3q26.32(chr3:176755939-176756243)x1
|
|
|
GRCh37/hg19 7q11.22(chr7:69848194-70190799)x1
|
|
|
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
|
|
|
GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3
|
|
|
GRCh37/hg19 Xp11.4(chrX:38486922-38615759)x2
|
|
|
GRCh37/hg19 Xq28(chrX:153566798-153748208)x4
|
|
|
GRCh37/hg19 Xq28(chrX:154124170-154528181)x3
|
|
|
NCBI36/hg18 2p25.3(chr2:20341-2288046)x1
|
|
|
NM_000314.8(PTEN):c.377C>T (p.Ala126Val)
|
rs1114167656
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)
|
rs1448764008
|
|
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)
|
rs2148019913
|
|
NM_000489.6(ATRX):c.6718C>T (p.Leu2240Phe)
|
rs199474698
|
|
NM_000548.5(TSC2):c.1597A>C (p.Lys533Gln)
|
rs397515038
|
|
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)
|
rs397515081
|
|
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe)
|
rs397514908
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.2879C>T (p.Ser960Phe)
|
rs397514898
|
|
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln)
|
rs397515156
|
|
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)
|
rs397515110
|
|
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp)
|
rs1561846159
|
|
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)
|
rs1555103971
|
|
NM_000834.5(GRIN2B):c.2438T>C (p.Leu813Pro)
|
|
|
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs)
|
rs1556016292
|
|
NM_001032382.2(PQBP1):c.376A>T (p.Arg126Trp)
|
rs28372358
|
|
NM_001039591.3(USP9X):c.1140G>A (p.Trp380Ter)
|
rs886041595
|
|
NM_001039591.3(USP9X):c.1315-4A>G
|
rs1057522024
|
|
NM_001039591.3(USP9X):c.2633C>T (p.Ser878Leu)
|
|
|
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg)
|
rs1057524573
|
|
NM_001080517.3(SETD5):c.2212_2213del (p.Met738fs)
|
rs2125289335
|
|
NM_001100399.2(PDS5A):c.663_666del (p.Lys222fs)
|
|
|
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu)
|
rs1557178957
|
|
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu)
|
rs80338837
|
|
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)
|
rs28935472
|
|
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
|
rs28935473
|
|
NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro)
|
|
|
NM_001110792.2(MECP2):c.331dup (p.Thr111fs)
|
rs1603310755
|
|
NM_001110792.2(MECP2):c.413+5G>A
|
rs2148666320
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
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.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001145358.2(SIN3A):c.3025C>T (p.Gln1009Ter)
|
|
|
NM_001145358.2(SIN3A):c.394C>T (p.Gln132Ter)
|
|
|
NM_001160372.4(TRAPPC9):c.2123del (p.His708fs)
|
|
|
NM_001170629.2(CHD8):c.3307+1G>A
|
rs2139474867
|
|
NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly)
|
rs1559174854
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter)
|
rs1559174813
|
|
NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln)
|
rs1559164403
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.1476A>T (p.Gln492His)
|
|
|
NM_001172509.2(SATB2):c.1945dup (p.Ser649fs)
|
rs1559136052
|
|
NM_001172509.2(SATB2):c.2018dup (p.His673fs)
|
rs1559136015
|
|
NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter)
|
rs1559135904
|
|
NM_001172509.2(SATB2):c.346+2T>G
|
rs1559052017
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter)
|
rs1558995207
|
|
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
|
NM_001184880.2(PCDH19):c.117_142dup (p.Glu48fs)
|
|
|
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile)
|
rs2147539327
|
|
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
|
rs587784295
|
|
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)
|
|
|
NM_001190274.2(FBXO11):c.2084G>A (p.Gly695Asp)
|
rs2104658680
|
|
NM_001244008.2(KIF1A):c.1264C>A (p.Arg422Ser)
|
|
|
NM_001244008.2(KIF1A):c.3816+3G>A
|
rs2047809605
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter)
|
rs1555904878
|
|
NM_001273.5(CHD4):c.4147+1G>T
|
rs2136203532
|
|
NM_001281503.2(SLITRK1):c.1264del (p.Leu422fs)
|
rs193302861
|
|
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)
|
rs587777526
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)
|
rs587777522
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001282531.3(ADNP):c.3278_3279dup (p.Gly1094fs)
|
rs869320662
|
|
NM_001282531.3(ADNP):c.819_820insT (p.Lys274Ter)
|
|
|
NM_001282531.3(ADNP):c.82_85del (p.Leu28fs)
|
rs1982227129
|
|
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)
|
rs1275489527
|
|
NM_001303052.2(MYT1L):c.1639del (p.Val547fs)
|
|
|
NM_001303052.2(MYT1L):c.1808G>T (p.Arg603Leu)
|
rs1264319963
|
|
NM_001303052.2(MYT1L):c.2030A>G (p.Asp677Gly)
|
rs2148958913
|
|
NM_001303052.2(MYT1L):c.2123dup (p.Ser709fs)
|
rs886041944
|
|
NM_001303052.2(MYT1L):c.2726del (p.Gly909fs)
|
rs2148530761
|
|
NM_001320.7(CSNK2B):c.367+5del
|
rs1583610622
|
|
NM_001321075.3(DLG4):c.150+4_150+5del
|
|
|
NM_001321075.3(DLG4):c.1598A>G (p.Tyr533Cys)
|
|
|
NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs)
|
rs2142803273
|
|
NM_001321075.3(DLG4):c.910del (p.Glu304fs)
|
|
|
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs)
|
rs1931281945
|
|
NM_001330574.2(ZNF711):c.124GTT[1] (p.Val43del)
|
rs587780527
|
|
NM_001330574.2(ZNF711):c.1379A>T (p.Tyr460Phe)
|
rs2147874862
|
|
NM_001347721.2(DYRK1A):c.1271dup (p.Pro425fs)
|
|
|
NM_001347721.2(DYRK1A):c.208-28G>A
|
rs552103257
|
|
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter)
|
rs1057516030
|
|
NM_001348323.3(TRIP12):c.1510C>T (p.Gln504Ter)
|
|
|
NM_001348323.3(TRIP12):c.3088_3089del (p.Gly1030fs)
|
|
|
NM_001349338.3(FOXP1):c.180+200C>A
|
|
|
NM_001353921.2(ARHGEF9):c.1126G>T (p.Asp376Tyr)
|
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys)
|
rs797045026
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)
|
rs2063908570
|
|
NM_001356.5(DDX3X):c.1168C>T (p.Gln390Ter)
|
|
|
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser)
|
rs1064793796
|
|
NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser)
|
rs2147358490
|
|
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)
|
rs1555954154
|
|
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)
|
rs796052230
|
|
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser)
|
rs2147360044
|
|
NM_001356.5(DDX3X):c.443+3A>T
|
rs2147350644
|
|
NM_001356.5(DDX3X):c.538G>T (p.Glu180Ter)
|
|
|
NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)
|
|
|
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)
|
rs1569238002
|
|
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu)
|
rs1064796820
|
|
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe)
|
rs2147353947
|
|
NM_001356.5(DDX3X):c.977G>A (p.Arg326His)
|
rs797045025
|
|
NM_001366057.1(OTUD4):c.1361A>G (p.Glu454Gly)
|
|
|
NM_001370100.5(ZMYND11):c.1262G>A (p.Ser421Asn)
|
rs869320713
|
|
NM_001371928.1(AHDC1):c.1167del (p.Arg389fs)
|
rs1553159581
|
|
NM_001371928.1(AHDC1):c.1169del (p.Pro390fs)
|
rs1553159575
|
|
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs)
|
rs587779766
|
|
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter)
|
rs777736953
|
|
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter)
|
rs886041781
|
|
NM_001374828.1(ARID1B):c.1099C>T (p.Gln367Ter)
|
rs1583025138
|
|
NM_001374828.1(ARID1B):c.1227AGGAGGAGCAGGAGC[1] (p.411GAGAG[1])
|
rs773423003
|
|
NM_001374828.1(ARID1B):c.1400del (p.Gly467fs)
|
|
|
NM_001374828.1(ARID1B):c.1508del (p.Asn503fs)
|
rs1583026682
|
|
NM_001374828.1(ARID1B):c.2073dup (p.His692fs)
|
rs2128210922
|
|
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)
|
rs794727977
|
|
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter)
|
rs1182325800
|
|
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs)
|
rs1794427847
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser)
|
|
|
NM_001376.5(DYNC1H1):c.11989C>T (p.Arg3997Trp)
|
rs1399236395
|
|
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile)
|
rs750566844
|
|
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser)
|
rs1555408829
|
|
NM_001376.5(DYNC1H1):c.5114T>C (p.Val1705Ala)
|
rs2048178354
|
|
NM_001378120.1(MBD5):c.1188del (p.Met396fs)
|
rs2105630210
|
|
NM_001378120.1(MBD5):c.150del (p.Thr52fs)
|
rs398122412
|
|
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs)
|
rs794727928
|
|
NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter)
|
rs886041003
|
|
NM_001378120.1(MBD5):c.890_891del (p.Ile297fs)
|
rs796052719
|
|
NM_001429.4(EP300):c.2225del (p.Pro742fs)
|
rs2059021664
|
|
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter)
|
rs1555911313
|
|
NM_001429.4(EP300):c.5723dup (p.Thr1909fs)
|
rs1555912182
|
|
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)
|
rs869312823
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)
|
rs869312824
|
|
NM_002074.5(GNB1):c.287G>T (p.Arg96Leu)
|
rs1646670990
|
|
NM_002074.5(GNB1):c.301A>G (p.Met101Val)
|
rs869312825
|
|
NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr)
|
rs1570640673
|
|
NM_002074.5(GNB1):c.353A>G (p.Asp118Gly)
|
rs1553194162
|
|
NM_002397.5(MEF2C):c.411del (p.Pro138fs)
|
rs1581753788
|
|
NM_002397.5(MEF2C):c.413del (p.Pro138fs)
|
rs1581753587
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys)
|
rs1064795031
|
|
NM_002547.3(OPHN1):c.155-2A>C
|
rs1064793755
|
|
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg)
|
rs281875202
|
|
NM_003070.5(SMARCA2):c.4216G>A (p.Val1406Met)
|
|
|
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg)
|
rs1555796197
|
|
NM_003072.5(SMARCA4):c.489G>T (p.Gly163=)
|
rs1201612670
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_003491.4(NAA10):c.471+2T>A
|
rs587776457
|
|
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser)
|
rs761103069
|
|
NM_004187.5(KDM5C):c.1565C>T (p.Ser522Phe)
|
rs2146915737
|
|
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)
|
rs1135401800
|
|
NM_004187.5(KDM5C):c.269C>T (p.Ala90Val)
|
rs2073805082
|
|
NM_004187.5(KDM5C):c.4118-9A>G
|
|
|
NM_004187.5(KDM5C):c.469T>A (p.Tyr157Asn)
|
|
|
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys)
|
rs1556852793
|
|
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs)
|
rs2141203402
|
|
NM_004380.3(CREBBP):c.3181G>A (p.Glu1061Lys)
|
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
|
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)
|
rs1603417440
|
|
NM_004595.5(SMS):c.166G>A (p.Gly56Ser)
|
rs121434610
|
|
NM_004595.5(SMS):c.174T>A (p.Phe58Leu)
|
rs397515549
|
|
NM_004595.5(SMS):c.329+5G>A
|
rs397515381
|
|
NM_004595.5(SMS):c.388C>T (p.Arg130Cys)
|
rs1602210346
|
|
NM_004595.5(SMS):c.443A>G (p.Gln148Arg)
|
rs397515551
|
|
NM_004595.5(SMS):c.908_911del (p.Met303fs)
|
rs1602220706
|
|
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)
|
rs1775982467
|
|
NM_004830.4(MED23):c.224del (p.Arg75fs)
|
rs2114781844
|
|
NM_004830.4(MED23):c.2528T>C (p.Leu843Pro)
|
|
|
NM_004859.4(CLTC):c.681+2dup
|
rs1598214612
|
|
NM_005120.3(MED12):c.1249-1G>C
|
rs2147783158
|
|
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)
|
rs2092292878
|
|
NM_005120.3(MED12):c.1547G>A (p.Arg516His)
|
rs1556334969
|
|
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)
|
rs1057519381
|
|
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs)
|
rs2147791922
|
|
NM_005120.3(MED12):c.2663dup (p.Leu889fs)
|
rs2147796613
|
|
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn)
|
rs2147796647
|
|
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp)
|
rs2147797665
|
|
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)
|
rs2147797835
|
|
NM_005120.3(MED12):c.2786T>A (p.Val929Asp)
|
rs2147798220
|
|
NM_005120.3(MED12):c.2861T>G (p.Val954Gly)
|
rs2147799283
|
|
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu)
|
rs397515554
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)
|
rs80338759
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
NM_005120.3(MED12):c.322C>T (p.Arg108Ter)
|
rs2147773440
|
|
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys)
|
rs2147802318
|
|
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)
|
rs1057523906
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)
|
rs387907361
|
|
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)
|
rs2092311077
|
|
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)
|
rs2147805923
|
|
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu)
|
rs2147805960
|
|
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)
|
rs863223706
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu)
|
rs2147808490
|
|
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser)
|
rs2147808505
|
|
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)
|
rs2147811858
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln)
|
rs1488533087
|
|
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)
|
rs794727576
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs)
|
rs2147823333
|
|
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter)
|
rs2147826070
|
|
NM_005120.3(MED12):c.514G>C (p.Glu172Gln)
|
rs2147774632
|
|
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)
|
rs387907362
|
|
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter)
|
rs2147829167
|
|
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)
|
rs879255527
|
|
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter)
|
rs2147830849
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter)
|
rs2147839335
|
|
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)
|
rs1556334331
|
|
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter)
|
rs2147839986
|
|
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter)
|
rs2147841562
|
|
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter)
|
rs2147841653
|
|
NM_005120.3(MED12):c.6328C>G (p.Gln2110Glu)
|
|
|
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter)
|
rs2147844887
|
|
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)
|
rs1085307941
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_005249.5(FOXG1):c.1062del (p.Ser355fs)
|
rs1881817310
|
|
NM_005249.5(FOXG1):c.136dup (p.Gln46fs)
|
rs587783629
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)
|
rs281875321
|
|
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)
|
rs281875320
|
|
NM_005883.3(APC2):c.278C>T (p.Pro93Leu)
|
|
|
NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr)
|
rs2124785718
|
|
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys)
|
rs863225080
|
|
NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser)
|
rs757369209
|
|
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys)
|
rs863225081
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg)
|
rs876657383
|
|
NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg)
|
rs869320691
|
|
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)
|
rs104894939
|
|
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro)
|
rs367543059
|
|
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del)
|
rs113994164
|
|
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)
|
rs104894938
|
|
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs)
|
rs113994166
|
|
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe)
|
rs113994162
|
|
NM_006565.4(CTCF):c.1130G>A (p.Arg377His)
|
rs968244943
|
|
NM_006565.4(CTCF):c.1673_1675delinsTT (p.Ser558fs)
|
rs2142867004
|
|
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)
|
rs879255516
|
|
NM_006565.4(CTCF):c.532_538del (p.Leu178fs)
|
|
|
NM_006565.4(CTCF):c.778_781del (p.Lys260fs)
|
rs2052063931
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006618.5(KDM5B):c.2074T>G (p.Cys692Gly)
|
|
|
NM_006618.5(KDM5B):c.4109_4113del (p.Leu1370fs)
|
|
|
NM_006734.4(HIVEP2):c.5150dup (p.Leu1718fs)
|
rs2114642634
|
|
NM_006766.5(KAT6A):c.2525del (p.Ser842fs)
|
|
|
NM_006766.5(KAT6A):c.5736T>G (p.Asn1912Lys)
|
rs758279337
|
|
NM_006772.3(SYNGAP1):c.1022_1030delinsTA (p.Gly341fs)
|
|
|
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)
|
rs587780470
|
|
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)
|
rs1060503386
|
|
NM_006772.3(SYNGAP1):c.190-2A>G
|
rs1776941586
|
|
NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter)
|
rs1554122200
|
|
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)
|
rs1131691979
|
|
NM_006772.3(SYNGAP1):c.3583-9G>A
|
rs1554122689
|
|
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)
|
rs869312955
|
|
NM_006772.3(SYNGAP1):c.457del (p.Thr153fs)
|
|
|
NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs)
|
rs1777299176
|
|
NM_006852.6(TLK2):c.367C>T (p.Arg123Ter)
|
rs758726258
|
|
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile)
|
rs1556860638
|
|
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile)
|
rs879255628
|
|
NM_007118.4(TRIO):c.3752del (p.Asp1251fs)
|
rs879255623
|
|
NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter)
|
rs879255622
|
|
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)
|
rs879255626
|
|
NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr)
|
rs879255627
|
|
NM_007118.4(TRIO):c.4466del (p.Gln1489fs)
|
rs879255625
|
|
NM_007118.4(TRIO):c.649A>T (p.Arg217Ter)
|
rs879255624
|
|
NM_007118.4(TRIO):c.7049C>G (p.Pro2350Arg)
|
rs754870679
|
|
NM_007327.4(GRIN1):c.1334G>A (p.Gly445Asp)
|
rs147435860
|
|
NM_012280.4(FTSJ1):c.620del (p.Pro207fs)
|
rs2147096084
|
|
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter)
|
rs2134275196
|
|
NM_012309.5(SHANK2):c.4592_4593del (p.Thr1531fs)
|
rs1565526722
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.3701A>G (p.Asn1234Ser)
|
rs2151753726
|
|
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs)
|
rs1597451815
|
|
NM_013275.6(ANKRD11):c.6581A>G (p.Gln2194Arg)
|
rs1364705691
|
|
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter)
|
rs1221781038
|
|
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)
|
rs1057519947
|
|
NM_014795.4(ZEB2):c.1077_1081del (p.Ser360fs)
|
rs1703290664
|
|
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)
|
rs869312833
|
|
NM_015100.4(POGZ):c.3041del (p.Gln1014fs)
|
rs796052217
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015100.4(POGZ):c.3936del (p.Ile1312fs)
|
rs2102141341
|
|
NM_015107.3(PHF8):c.-60C>T
|
rs1557116325
|
|
NM_015335.5(MED13L):c.5365-1G>A
|
rs1876893450
|
|
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter)
|
rs1568235086
|
|
NM_015559.3(SETBP1):c.2447C>A (p.Thr816Asn)
|
rs779562371
|
|
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs)
|
rs1789927813
|
|
NM_015570.4(AUTS2):c.3050G>A (p.Gly1017Glu)
|
|
|
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs)
|
rs121909834
|
|
NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp)
|
|
|
NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del)
|
rs121909833
|
|
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
|
|
|
NM_018255.4(ELP2):c.454C>A (p.Leu152Ile)
|
rs2144603879
|
|
NM_018489.3(ASH1L):c.1559A>G (p.Glu520Gly)
|
|
|
NM_018489.3(ASH1L):c.1603G>T (p.Gly535Ter)
|
|
|
NM_018489.3(ASH1L):c.2268G>C (p.Glu756Asp)
|
rs2148727190
|
|
NM_018489.3(ASH1L):c.4593G>C (p.Lys1531Asn)
|
|
|
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)
|
rs1665684529
|
|
NM_018489.3(ASH1L):c.4909C>T (p.Gln1637Ter)
|
|
|
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg)
|
rs1216562585
|
|
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)
|
|
|
NM_018938.4(PCDHB4):c.915del (p.Lys305fs)
|
rs372292910
|
|
NM_020066.5(FMN2):c.1591G>T (p.Asp531Tyr)
|
|
|
NM_020843.4(SCAPER):c.2166-3C>G
|
rs1598279469
|
|
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)
|
rs1057519565
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met)
|
|
|
NM_030966.2(KRTAP1-3):c.121C>G (p.Gln41Glu)
|
rs78298475
|
|
NM_031407.7(HUWE1):c.6976G>T (p.Asp2326Tyr)
|
rs1569448303
|
|
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His)
|
rs2061745581
|
|
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)
|
rs797044962
|
|
NM_032436.4(CHAMP1):c.2094del (p.Ile698fs)
|
|
|
NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs)
|
rs863225077
|
|
NM_032531.4(KIRREL3):c.1238C>T (p.Thr413Ile)
|
rs1565456303
|
|
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)
|
rs750585274
|
|
NM_139058.3(ARX):c.946G>T (p.Gly316Cys)
|
rs2048708756
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser)
|
rs781781537
|
|
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)
|
rs120074155
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
NM_181303.2(NLGN3):c.814A>T (p.Ile272Phe)
|
rs2147900298
|
|
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg)
|
rs267606973
|
|
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter)
|
rs875989786
|
|
NM_205768.3(ZBTB18):c.1397_1400dup (p.Val468fs)
|
|
|
NM_205768.3(ZBTB18):c.1408A>G (p.Thr470Ala)
|
rs1572531923
|
|
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter)
|
rs1064792999
|
|
Single allele
|
|
|