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Table 2 Damaging, validated variants in genes previously implicated in ASD or other disorders in multiple families

From: Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

Gene Family Position (Hg19) dbSNP Nucleotide Amino acid HIHG control chromosomes Disorder References
CEP290 37425 chr12:88472996 rs61941020 C > T Arg1746Gln 3/610 ASD, ID Coppieters et al., 2010 [39]
  37117 chr12:88508258 rs79705698 T > C Asp664Gly 15/612 ASD, ID Coppieters et al., 2010 [39]
CSMD1 37117 chr8:2965294 - G > C Pro2262Ala 2/614 ASD, SZ Havik et al., [40]
  17122 chr8:3253832 - C > T Gly827Asp 0/604 ASD, SZ Havik et al., [40]
FAT1 37037 chr4:187518041 rs72716244 T > C Asp4218Gly 11/610 ASD, BD Blair et al., [43], Neale et al., [15]
  17545 chr4:187549364 rs111886222 G > A Thr1585Met 5/614 ASD, BD Blair et al., [43], Neale et al., [15]
  17545 chr4:187557908 rs113970444 C > T Arg1268Gln 5/608 ASD, BD Blair et al., [43], Neale et al., [15]
SLIT3 17342, 18074 chr5:168180047 rs34260167 C > T Ser629Asn 7/616 MD Glessner et al., [38]
STXBP5 37994 chr6:147635108 rs144099092 A > G Leu412Val 2/614 ASD Davis et al., [44]
  7623 chr6:147636753 rs148830578 T > A Try502Cys 2/614 ASD Davis et al., [44]
  1. ASD, autism spectrum disorder; BD, bipolar disorder; HIHG, Hussman Institute for Human Genomics; ID, intellectual disability; MD, major depression; SZ, schizophrenia.