CUX1
| SSC11492 | chr7:
101923364-101923365 | GT | G | exonic | | Paternal | frameshift deletion | NM_001202544
NM_001202545
NM_001202546
NM_001913
NM_181500 | c.1669delT
c.1579delT
c.1600delT
c.1717delT
c.1711delT | p.S557fs
p.S527fs
p.S534fs
p.S573fs
p.S571fs | - | 2.494E-5 | Chan2022
G
| |
| NRXN1
| SSC06079 | chr2:
50699435-50699435 | C | A | splicing | | Maternal | splicing | | | | 24.8 | - | Chan2022
G
| |
| NF1
| SSC12583 | chr17:
29496923-29496927 | CTGTT | C | exonic | | Paternal | frameshift deletion | NM_000267
NM_001042492
NM_001128147 | c.495_498del
c.495_498del
c.495_498del | p.T165fs
p.T165fs
p.T165fs | - | - | Chan2022
G
| |
| MECP2
| SSC08245 | chrX:
153296399-153296399 | G | A | exonic | | De novo | stopgain | NM_001110792
NM_004992
NM_001316337 | c.C916T
c.C880T
c.C601T | p.R306X
p.R294X
p.R201X | 32.0 | - | Chan2022
G
| |
| AFF2
| SSC10015 | chrX:
148068931-148068931 | T | TC | exonic | | Maternal | frameshift insertion | NM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025 | c.2582dupC
c.3554dupC
c.3554dupC
c.3542dupC
c.3629dupC
c.3659dupC | p.S861fs
p.S1185fs
p.S1185fs
p.S1181fs
p.S1210fs
p.S1220fs | - | - | Chan2022
G
| |
| CNTN6
| 3-0469-000 | chr3:
1371508-1371508 | A | AA | exonic | | Maternal | frameshift insertion | NM_001289081
NM_001289080
NM_014461 | c.1037dupA
c.1253dupA
c.1253dupA | p.K346fs
p.K418fs
p.K418fs | - | - | Chan2022
G
| |
| ULK4
| 3-0466-000 | chr3:
41756779-41756779 | G | A | exonic | | Paternal | stopgain | NM_017886 | c.C2584T | p.R862X | 46.0 | 0.0027 | Chan2022
G
| |
| NOTCH3
| 3-0446-000 | chr19:
15272169-15272170 | GC | G | exonic | | Maternal | frameshift deletion | NM_000435 | c.6269delG | p.G2090fs | - | - | Chan2022
G
| |
| KMT2A
| SSC03230 | chr11:
118344386-118344387 | TG | T | exonic | | De novo | frameshift deletion | NM_001197104
NM_005933 | c.2513delG
c.2513delG | p.W838fs
p.W838fs | - | - | Chan2022
G
| |
| GABRA1
| SSC09809 | chr5:
161324370-161324370 | A | G | exonic | | De novo | nonsynonymous SNV | NM_001127648
NM_001127644
NM_001127645
NM_000806
NM_001127643 | c.A1313G
c.A1313G
c.A1313G
c.A1313G
c.A1313G | p.Y438C
p.Y438C
p.Y438C
p.Y438C
p.Y438C | 21.4 | - | Chan2022
G
| |
| SHANK3
| 3-0107-000 | chr22:
51121806-51121808 | CAG | C | exonic | | De novo | frameshift deletion | NM_033517 | c.925_926del | p.R309fs | - | - | Chan2022
G
| |
| TBR1
| SSC09323 | chr2:
162273603-162273603 | A | G | exonic | | De novo | nonsynonymous SNV | NM_006593 | c.A682G | p.K228E | 16.8 | - | Chan2022
G
| |
| DNMT3A
| SSC11761 | chr2:
25457176-25457176 | G | A | exonic | | De novo | nonsynonymous SNV | NM_153759
NM_022552
NM_175629 | c.C2144T
c.C2711T
c.C2711T | p.P715L
p.P904L
p.P904L | 19.87 | 9.067E-5 | Chan2022
G
| |
| SLITRK5
| 3-0027-000 | chr13:
88329338-88329338 | G | A | exonic | | Maternal | stopgain | NM_015567 | c.G1695A | p.W565X | 38.0 | - | Chan2022
G
| |
| TCF12
| 3-0459-000 | chr15:
57535740-57535741 | CT | CTG | exonic | | Maternal | frameshift insertion | NM_001306220
NM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038 | c.399_400insG
c.597_598insG
c.597_598insG
c.1107_1108insG
c.1107_1108insG
c.1107_1108insG
c.1107_1108insG | p.P133fs
p.P199fs
p.P199fs
p.P369fs
p.P369fs
p.P369fs
p.P369fs | - | - | Chan2022
G
| |
| GRIN2B
| SSC05465 | chr12:
13722953-13722953 | T | C | splicing | | De novo | splicing | | | | 17.06 | - | Chan2022
G
| |
| CACNA1C
| SSC10900 | chr12:
2717804-2717804 | G | C | exonic | | De novo | nonsynonymous SNV | NM_000719
NM_001129829
NM_001129830
NM_001129831
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_001129827
NM_001129832
NM_199460 | c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3475C
c.G3484C
c.G3484C
c.G3484C
c.G3484C
c.G3544C
c.G3544C
c.G3544C | p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1159L
p.V1162L
p.V1162L
p.V1162L
p.V1162L
p.V1182L
p.V1182L
p.V1182L | 29.3 | - | Chan2022
G
| |
| GRIN2B
| SSC06040 | chr12:
13764762-13764762 | C | T | exonic | | De novo | stopgain | NM_000834 | c.G1677A | p.W559X | 41.0 | - | Chan2022
G
| |
| CIC
| SSC05569 | chr19:
42792016-42792016 | C | T | exonic | | De novo | stopgain | NM_015125
NM_001304815 | c.C820T
c.C3547T | p.R274X
p.R1183X | 40.0 | - | Chan2022
G
| |
| UPF3B
| SSC03292 | chrX:
118985815-118985815 | G | GA | exonic | | De novo | frameshift insertion | NM_023010
NM_080632 | c.177dupT
c.177dupT | p.P60fs
p.P60fs | - | - | Chan2022
G
| |
| NCKAP1
| SSC10447 | chr2:
183866861-183866861 | C | CCA | exonic | | De novo | frameshift insertion | NM_013436
NM_205842 | c.505_506insTG
c.523_524insTG | p.G169fs
p.G175fs | - | - | Chan2022
G
| |
| TRRAP
| SSC11926 | chr7:
98609859-98609859 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003496
NM_001244580 | c.C11374T
c.C11461T | p.R3792C
p.R3821C | 33.0 | - | Chan2022
G
| |
| PTEN
| 3-0197-000 | chr10:
89711876-89711876 | G | T | exonic | | De novo | nonsynonymous SNV | NM_000314
NM_001304717 | c.G494T
c.G1013T | p.G165V
p.G338V | 27.4 | - | Chan2022
G
| |
| DYNC1H1
| 3-0467-000 | chr14:
102506954-102506956 | ACA | A | exonic | | De novo | frameshift deletion | NM_001376 | c.11886_11887del | p.D3962fs | - | - | Chan2022
G
| |
| PHIP
| SSC10624 | chr6:
79735235-79735240 | CTTTAT | C | exonic | | De novo | frameshift deletion | NM_017934 | c.919_923del | p.I307fs | - | 8.287E-6 | Chan2022
G
| |
| CHD8
| 3-0199-000 | chr14:
21873401-21873401 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001170629
NM_020920 | c.C3274T
c.C2437T | p.R1092C
p.R813C | 26.2 | - | Chan2022
G
| |
| DYNC1H1
| 3-0543-000 | chr14:
102510258-102510258 | A | G | exonic | | De novo | nonsynonymous SNV | NM_001376 | c.A12560G | p.H4187R | 21.0 | - | Chan2022
G
| |
| CNOT1
| SSC03376 | chr16:
58589410-58589410 | G | C | exonic | | De novo | nonsynonymous SNV | NM_001265612
NM_016284
NM_206999 | c.C2621G
c.C2636G
c.C2636G | p.S874C
p.S879C
p.S879C | 29.6 | 1.671E-5 | Chan2022
G
| |
| CNOT3
| 3-0471-000 | chr19:
54657578-54657578 | G | C | splicing | | De novo | splicing | | | | 19.09 | - | Chan2022
G
| |
| NFIA
| SSC08191 | chr1:
61553905-61553905 | C | T | exonic | | De novo | stopgain | NM_001134673
NM_001145511
NM_005595
NM_001145512 | c.C112T
c.C88T
c.C112T
c.C247T | p.R38X
p.R30X
p.R38X
p.R83X | 40.0 | - | Chan2022
G
| |
| WAC
| 3-0095-000 | chr10:
28879728-28879738 | CAAGCAACAGC | C | exonic | | De novo | frameshift deletion | NM_016628
NM_100264
NM_100486 | c.578_587del
c.443_452del
c.578_587del | p.Q193fs
p.Q148fs
p.Q193fs | - | - | Chan2022
G
| |
| CTNNB1
| SSC04950 | chr3:
41275346-41275346 | G | A | exonic | | De novo | stopgain | NM_001098209
NM_001098210
NM_001904 | c.G1512A
c.G1512A
c.G1512A | p.W504X
p.W504X
p.W504X | 42.0 | - | Chan2022
G
| |
| GABRB3
| SSC05945 | chr15:
26828534-26828534 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631 | c.G234A
c.G276A
c.G489A
c.G489A
c.G234A | p.M78I
p.M92I
p.M163I
p.M163I
p.M78I | 17.36 | - | Chan2022
G
| |
| ASH1L
| 3-0140-000 | chr1:
155324288-155324288 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C7189T | p.R2397X | 51.0 | - | Chan2022
G
| |
| WDFY3
| SSC04194 | chr4:
85715777-85715777 | G | A | exonic | | De novo | stopgain | NM_014991 | c.C3382T | p.R1128X | 44.0 | - | Chan2022
G
| |
| SYNGAP1
| 3-0438-000 | chr6:
33406687-33406698 | ACTCCCACTGGT | TCTCACCA | exonic | | De novo | frameshift substitution | NM_006772 | c.1667_1676TCTCACCA | N/A | - | - | Chan2022
G
| |
| ZMYND11
| SSC07968 | chr10:
293337-293337 | G | A | splicing | | De novo | splicing | | | | 26.9 | - | Chan2022
G
| |
| EEF1A2
| SSC12537 | chr20:
62120390-62120390 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001958 | c.G1145A | p.R382H | 17.85 | - | Chan2022
G
| |
| GPHN
| 3-0311-000 | chr14:
67589061-67589062 | AC | A | exonic | | Unknown | frameshift deletion | NM_001024218
NM_020806 | c.1617delC
c.1716delC | p.Y539fs
p.Y572fs | - | - | Chan2022
G
| |
| CTNND2
| 3-0224-000 | chr5:
10992756-10992761 | ACGAGG | A | exonic | | Unknown | frameshift deletion | NM_001288716
NM_001288715
NM_001288717
NM_001332 | c.2102_2106del
c.2840_2844del
c.1814_1818del
c.3113_3117del | p.A701fs
p.A947fs
p.A605fs
p.A1038fs | - | - | Chan2022
G
| |
| BBS1
| 3-0111-000 | chr11:
66293652-66293652 | T | G | exonic | | Both parents | nonsynonymous SNV | NM_024649 | c.T1169G | p.M390R | 19.17 | 0.0015 | Chan2022
G
| |
| CHD8
| SSC06690 | chr14:
21899618-21899618 | G | C | exonic | | De novo | stopgain | NM_001170629 | c.C185G | p.S62X | 22.5 | - | Chan2022
G
| |
| MKKS
| 3-0110-000 | chr20:
10393881-10393882 | GA | G | exonic | | Unknown | frameshift deletion | NM_018848
NM_170784 | c.281delT
c.281delT | p.F94fs
p.F94fs | - | - | Chan2022
G
| |
| SCN2A
| 3-0261-000 | chr2:
166237202-166237202 | G | C | exonic | | De novo | nonsynonymous SNV | NM_001040143
NM_001040142
NM_021007 | c.G4409C
c.G4409C
c.G4409C | p.G1470A
p.G1470A
p.G1470A | 26.1 | - | Chan2022
G
| |
| RAI1
| SSC06117 | chr17:
17699836-17699837 | AG | A | exonic | | De novo | frameshift deletion | NM_030665 | c.3575delG | p.S1192fs | - | - | Chan2022
G
| |
| TRIO
| SSC08153 | chr5:
14394220-14394220 | A | T | exonic | | De novo | nonsynonymous SNV | NM_007118 | c.A4292T | p.K1431M | 17.83 | - | Chan2022
G
| |
| DYRK1A
| SSC09554 | chr21:
38865466-38865466 | G | A | splicing | | De novo | splicing | | | | 28.2 | - | Chan2022
G
| |
| KMT2E
| SSC07141 | chr7:
104748100-104748101 | TC | T | exonic | | De novo | frameshift deletion | NM_018682
NM_182931 | c.3197delC
c.3197delC | p.S1066fs
p.S1066fs | - | - | Chan2022
G
| |
| NF1
| 3-0660-000 | chr17:
29685585-29685587 | GAG | G | exonic | | Maternal | frameshift deletion | NM_000267
NM_001042492 | c.7996_7997del
c.8059_8060del | p.S2666fs
p.S2687fs | - | - | Chan2022
G
| |
| NLGN4X
| 3-0655-000 | chrX:
5827246-5827247 | GC | G | exonic | | Unknown | frameshift deletion | NM_001282146
NM_020742
NM_181332
NM_001282145 | c.659delG
c.659delG
c.659delG
c.659delG | p.G220fs
p.G220fs
p.G220fs
p.G220fs | - | - | Chan2022
G
| |
| NF1
| 3-0640-000 | chr17:
29557376-29557376 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_000267
NM_001042492 | c.C3089T
c.C3089T | p.S1030L
p.S1030L | 34.0 | - | Chan2022
G
| |
| MED12
| 3-0610-000 | chrX:
70345325-70345325 | G | A | exonic | | De novo | nonsynonymous SNV | NM_005120 | c.G2351A | p.R784H | 19.6 | 1.164E-5 | Chan2022
G
| |
| WNT1
| 3-0503-000 | chr12:
49373432-49373446 | CAGTTCCGGAATCGC | C | exonic | | Both parents | frameshift deletion | NM_005430 | c.287_300del | p.Q96fs | - | - | Chan2022
G
| |
| NAA10
| 3-0476-000 | chrX:
153197564-153197564 | G | C | exonic | | De novo | nonsynonymous SNV | NM_001256120
NM_003491 | c.C328G
c.C346G | p.R110G
p.R116G | 19.76 | - | Chan2022
G
| |
| FOXP1
| 3-0399-000 | chr3:
71037144-71037144 | C | T | splicing | | Unknown | splicing | | | | 20.6 | - | Chan2022
G
| |
| NCKAP1
| 3-0363-000 | chr2:
183902809-183902809 | G | A | exonic | | De novo | stopgain | NM_013436
NM_205842 | c.C19T
c.C19T | p.Q7X
p.Q7X | 45.0 | - | Chan2022
G
| |
| ULK4
| 3-0419-000 | chr3:
41756779-41756779 | G | A | exonic | | Paternal | stopgain | NM_017886 | c.C2584T | p.R862X | 46.0 | 0.0027 | Chan2022
G
| |
| CIC
| 3-0328-000 | chr19:
42788913-42788914 | CG | C | exonic | | Paternal | frameshift deletion | NM_015125 | c.58delG | p.G20fs | - | - | Chan2022
G
| |
| HDC
| 3-0213-000 | chr15:
50544809-50544809 | C | T | exonic | | Unknown | stopgain | NM_001306146
NM_002112 | c.G950A
c.G950A | p.W317X
p.W317X | 37.0 | - | Chan2022
G
| |
| PER2
| 3-0172-000 | chr2:
239159327-239159329 | TTC | T | exonic | | Maternal | frameshift deletion | NM_022817 | c.3330_3331del | p.E1110fs | - | - | Chan2022
G
| |
| ULK4
| 3-0167-000 | chr3:
41723052-41723054 | ACT | A | exonic | | Maternal | frameshift deletion | NM_017886 | c.2923_2924del | p.S975fs | - | - | Chan2022
G
| |
| CNTN6
| 3-0167-000 | chr3:
1371508-1371508 | A | AA | exonic | | Maternal | frameshift insertion | NM_001289081
NM_001289080
NM_014461 | c.1037dupA
c.1253dupA
c.1253dupA | p.K346fs
p.K418fs
p.K418fs | - | - | Chan2022
G
| |
| SLITRK5
| 3-0059-000 | chr13:
88328475-88328501 | GTATCCAAGCAGGAACTTTGCCCAAGG | G | exonic | | Maternal | frameshift deletion | NM_015567 | c.833_858del | p.V278fs | - | - | Chan2022
G
| |
| NF1
| 3-0736-000 | chr17:
29667662-29667663 | AG | A | exonic | | Maternal | frameshift deletion | NM_000267
NM_001042492 | c.6999delG
c.7062delG | p.K2333fs
p.K2354fs | - | - | Chan2022
G
| |