Table 3. Six novel rare missense variations identified by WES in two families, each with three ASD siblings.
| Family | Chromosome | Position a | Allele b | Gene | Protein | GERP | Transmission |
|---|---|---|---|---|---|---|---|
| #1 | 4 | 139,162,995 | C/T | SLC7A11 | G77S | 6.17 | Mother |
| #1 | 7 | 8,258,011 | C/G | ICA1 | G167A | 6 | Mother |
| #1 | 10 | 22,048,172 | G/C | DNAJC1 | A508G | 5.94 | Mother |
| #1 | 12 | 7,172,475 | C/T | C1S | P197S | 6.17 | Mother |
| #2 | 2 | 3,482,699 | G/A | TRAPPC12 | E297Q | 5.05 | Mother |
| #2 | 8 | 1,719,291 | G/A | CLN8 | R24H | 5.07 | Father |
WES, whole-exome sequencing; ASD, autism spectrum disorder; GERP, Genomic Evolutionary Rate Profiling.
aPosition according to GRCh37.
bReference/mutant allele.