Table 1.
Top de novo ASD risk contributing mutations*
| Proband | NVIQ | Candidate Gene | AA change |
|---|---|---|---|
| 12225.p1 | 89 | ABCA2 | p.VAL1845MET |
| 11653.p1 | 44 | ADCY5 | p.ARG603CYS |
| 12130.p1 | 55 | ADNP | frameshift indel |
| 11224.p1 | 112 | AP3B2 | p.ARG435HIS |
| 13447.p1 | 51 | ARID1B | frameshift indel |
| 13415.p1 | 48 | BRSK2 | 3n indel |
| 14292.p1 | 49 | BRWD1 | frameshift indel |
| 11872.p1 | 65 | CACNA1D | p.ALA769GLY |
| 11773.p1 | 50 | CACNA1E | p.GLY1209SER |
| 13606.p1 | 60 | CDC42BPB | p.ARG764TERM |
| 12086.p1 | 108 | CDH5 | p.ARG545TRP |
| 12630.p1 | 115 | CHD3 | p.ARG1818TRP |
| 13733.p1 | 68 | CHD7 | p.GLY996SER |
| 13844.p1 | 34 | CHD8 | p.GLN959TERM |
| 12752.p1 | 93 | CHD8 | frameshift indel |
| 13415.p1 | 48 | CNOT4 | p.ASP48ASN |
| 12703.p1 | 58 | CTNNB1 | p.THR551MET |
| 11452.p1 | 80 | CUL3 | p.GLU246TERM |
| 11571.p1 | 94 | CUL5 | p.VAL355ILE |
| 13890.p1 | 42 | DYRK1A | splice site |
| 12741.p1 | 87 | EHD2 | p.ARG167CYS |
| 11629.p1 | 67 | FBXO10 | p.GLU54LYS |
| 13629.p1 | 63 | GPS1 | p.ARG492GLN |
| 13757.p1 | 91 | GRINL1A | 3n indel |
| 11184.p1 | 94 | HDGFRP2 | p.GLU83LYS |
| 11610.p1 | 138 | HDLBP | p.ALA639SER |
| 11872.p1 | 65 | KATNAL2 | splice site |
| 12346.p1 | 77 | MBD5 | frameshift indel |
| 11947.p1 | 33 | MDM2 | p.GLU433LYS/p.TRP160TERM |
| 11148.p1 | 82 | MLL3 | p.TYR4691TERM |
| 12157.p1 | 91 | NLGN1 | p.HIS795TYR |
| 11193.p1 | 138 | NOTCH3 | p.GLY1134ARG |
| 11172.p1 | 60 | NR4A2 | p.TYR275HIS |
| 11660.p1 | 60 | NTNG1 | p.THR135ILE |
| 12532.p1 | 110 | NTNG1 | p.TYR23CYS |
| 11093.p1 | 91 | OPRL1 | p.ARG157CYS |
| 13793.p1 | 56 | PCDHB4 | p.ASP555HIS |
| 11707.p1 | 23 | PDCD1 | frameshift indel |
| 12304.p1 | 83 | PSEN1 | p.THR421ILE |
| 11390.p1 | 77 | PTEN | p.THR167ASN |
| 13629.p1 | 63 | PTPRK | p.ARG784HIS |
| 13333.p1 | 69 | RGMA | p.VAL379ILE |
| 13222.p1 | 86 | RPS6KA3 | p.SER369TERM |
| 11257.p1 | 128 | RUVBL1 | p.LEU365GLN |
| 11843.p1 | 113 | SESN2 | p.ALA46THR |
| 12933.p1 | 41 | SETBP1 | frameshift indel |
| 12565.p1 | 79 | SETD2 | frameshift indel |
| 12335.p1 | 47 | TBL1XR1 | p.LEU282PRO |
| 11480.p1 | 41 | TBR1 | frameshift indel |
| 11569.p1 | 67 | TNKS | p.ARG568THR |
| 12621.p1 | 120 | TSC2 | p.ARG1580TRP |
| 11291.p1 | 83 | TSPAN17 | p.SER75TERM |
| 11006.p1 | 125 | UBE3C | p.SER845PHE |
| 12161.p1 | 95 | UBR3 | frameshift indel |
| 12521.p1 | 78 | USP15 | frameshift indel |
| 11526.p1 | 92 | ZBTB41 | p.TYR886HIS |
| 13335.p1 | 25 | ZNF420 | p.LEU76PRO |
| CNV | |||
| Proband | Candidate Gene | Type | |
| 13335.p1 | 25 | CHRNA7 | duplication |
| 13726.p1 | 59 | CNTNAP4 | deletion |
| 12581.p1 | 34 | CTNND1 | deletion |
| 11928.p1 | 66 | EHMT1 | deletion |
| 13815.p1 | 56 | TBX6 | duplication |
*
Top candidate mutations based on severity and/or supporting evidence from the literature.