Table 2.
Summary of confirmed de novo mutation events
| SNV Proband | Type | Chromosome: Position | Gene Symbol | Variant | AA Change | GERP Score | Grantham Score | PolyPhen-2 | CpG | Ts/TV | Mut Origin |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11580.p1 | missense | chr20:2239665 | TGM3 | R | V144I | 5.15 | 29 | probably damaging | Y | Ts | Mo |
| 11666.p1 | missense | chr9:132904111 | LAMC3* | R | D339G | 4.92 | 94 | probably damaging | N | Ts | Fa |
| 12325.p1 | 3′UTR | chr12:55708658 | MYO1A | R | 2.23 | N | Ts | ||||
| 12325.p1 | missense | chr16:19951169 | GPR139 | Y | S151G | 1.71 | 56 | benign | N | Ts | |
| 12499.p1 | missense | chr2:166556317 | SCN1A* | R | P1894L | 5.55 | 98 | probably damaging | N | Ts | Fa |
| 12499.p1 | synonymous | chr3:38033207 | PLCD1 | K | −8.24 | Y | Tv | ||||
| 12499.p1 | missense | chr6:152865504 | SYNE1 | Y | Y282C | 4.48 | 194 | probably damaging | N | Ts | |
| 12575.p1 | 3′UTR | chr9:32619906 | TAF1L | R | −1.02 | Y | Ts | ||||
| 12647.p1 | 3′UTR | chr16:23585994 | DCTN5 | Y | −0.989 | N | Ts | ||||
| 12647.p1 | missense | chr5:68453390 | SLC30A5 | S | S561R | 4.6 | 110 | possibly damaging | N | Tv | |
| 12680.p1 | synonymous | chr2:101992478 | IL1R2 | Y | −1.53 | N | Ts | ||||
| 12680.p1 | synonymous | chr5:132251451 | AFF4 | Y | −11.2 | Y | Ts | Fa | |||
| 12681.p1 | 3′ splice | chr12:13614220 | GRIN2B* | Y | 4.17 | 215# | N | Ts | Fa | ||
| 12681.p1 | synonymous | chr7:142274902 | EPHB6 | Y | −3.14 | Y | Ts | Fa | |||
| 12817.p1 | synonymous | chr2:143724639 | ARHGAP15 | R | 3.51 | N | Ts | ||||
| 13253.p1 | missense | chr3:39204494 | XIRP1 | Y | V483M | 2.04 | 21 | probably damaging | N | Ts | |
| 13253.p1 | synonymous | chr16:74121475 | CHST5 | Y | −3.22 | Y | Ts | ||||
| 13284.p1 | synonymous | chr2:179145956 | TTN | Y | 0.328 | Y | Ts | ||||
| 13708.p1 | missense | chr17:58033198 | TLK2 | Y | S595L | 5.43 | 145 | probably damaging | Y | Ts | |
| 13708.p1 | missense | chr3:30004687 | RBMS3 | Y | T383M | 5.44 | 81 | probably damaging | Y | Ts | |
| Indel | |||||||||||
| 12817.p1 | frameshift | chr3:71132860 | FOXP1* | +T | A339SfsX4 | 5.38‡ | 215# | NA | NA | Fa |
*
Disruptive de novo mutations that are potentially causative
#
Maximum Grantham score given for splice and frameshifting variants
‡
Average GERP score for two sites flanking the insertion