Table 2 had 1 sample with an ambiguous ASD diagnosis with sampleID as "1" in the raw data obtained from paper. This sample was given the phenotype "unknown" under the VARICARTA_Phenotype column that we added to indicate the ambiguity of the diagnosis. In addition, "Du2018:" was appended in front of the original sampleID given because "1" is a sampleID that can be found in other papers.

The reported SHANK3 variants occurs at chr22:51159933 based on information obtained from the author. This variant is problematic when processed in transvar/mutalyzer other tools because there's disagreements between hg19 and the RefSeq CDS for SHANK3. Therefor, the sequence variant reported by the author does not map back to this coordinate. Consistent with the author's report, annovar converts this variant to "SHANK3:NM_033517:exon21:c.3630dupG:p.L1210fs".