Table 1 Subjects carrying damaging brain somatic SNVs.
Subject (n = 6) | Group | Brain somatic SNVs | ||||
|---|---|---|---|---|---|---|
Gene | Mutation | VAF (%) | gnomAD_AF (%) | Neurodevelopmental relevance | ||
4999 | ASD | DVL1 | NM_001330311.2:c.196 C > A (p.D66Y) | 0.3 | Not reported | Social recognition of hierarchy and dominance↓ (PMID: 14960015) |
ADCY5 | NM_001199642.1:c.2101 G > A (p.H701Y) | 1.0 | Not reported | Dyskinesia↑ (PMID: 26537056) | ||
5144 | ASD | ERBB3 | NM_001982.3:c.1611 T > G (p.N537K) | 2.0 | Not reported | Social novelty preference↓ (PMID: 21547722) |
5176 | ASD | PEAK1 | NM_024776.3:c.890 C > T (p.R297Q) | 2.5 | 0.000402 | |
5403 | ASD | RGS6 | NM_001204424.2:c.335 G > A (p.R112H) | 3.0 | 0.00199 | Anxiety and Depression↑ (PMID: 24421401) |
5308 | ASD | SLC25A22 | NM_001191060.1:c.718 C > T (p.A240T) | 3.8 | 0.000401 | |
5841 | ASD | CENPJ | NM_018451.5:c.3001 G > T (p.Q1001K) | 1.7 | Not reported | Microcephaly (PMID: 15793586) |
