Table 2.
Nonsynonymous variants confirmed by Sanger sequencing.
| Location | Ref/Alt | Het | Gene | RefGene variant annotation | 1000G | LRT | MutationTaster |
|---|---|---|---|---|---|---|---|
| chr13:84454582 | C/G | 1 | SLITRK1 | SLITRK1:NM_052910:exon1:c.G1061C:p.G354A | NA | D | D |
| chr13:84454485 | C/A | 1 | SLITRK1 | SLITRK1:NM_052910:exon1:c.G1158T:p.K386N | NA | D | D |
| chr13:84454751(rs146746846) | G/A | 1 | SLITRK1 | SLITRK1:NM_052910:exon1:c.C892T:p.H298Y | NA | D | D |
| chr13:84454391(rs150504822) | T/A | 2 | SLITRK1 | SLITRK1:NM_052910:exon1:c.A1252T:p.T418S | 0.00019 | D | D |
| chr15:50534882 | T/G | 1 | HDC | HDC:NM_002112:exon12: c.A1564C:p.I522L | NA | N | D |
Chr, chromosomal location; Ref, Reference allele; Alt, Alternative (rare) allele; Het, Number of heterozygous cases with the variant; 1000G, 1000 Genomes Project variant frequency (if available); LRT, Likelihood Ratio Test; LRT D, Deleterious; N, Neutral; MutationTaster D, Disease-causing; NA, Not available.