Figure 2.

Repeatedly reported variations of unknown significance. A missense mutation (p.His520Arg) of FOXP1 gene was most commonly found. Only FOXP1 gene variation appeared three times in 137 patients, the rest of missense mutations were found twice each. In perspective of mutation type, one nonsense mutation (p.Trp2Ter in GABRB3 gene), two in-frame deletions (p.Gln3910_Gln3911del in KMT2D gene, p.His72_His74del in HOXA1 gene), 21 missense mutations were related to each gene. Most genes have already been reported to be related to ASD according to OMIM and SFARI database.