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Table 3 Case unique loss-of-function variants selected for Sanger validation

From: Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

Position Gene Coding nucleotide Amino acid
chr1:146737632 CH1DL c.C169T p.R57X
chr2:32434592 SLC30A6 c.C625T p.R209X
chr3:154139052 GPR149 c.C1399T p.Q467X
chr4:187517886 FAT1 a c.C481T p.R161X
chr5:75866423 IQGAP2 c.C322T p.R108X
chr5:108294935 FER a c.C1018T p.R340X
chr5:148407104 SH3TC2 c.G832T p.E278X
chr6:46988468 GPR110 c.C610T p.R204X
chr6:102483442 GRIK2 a splice splice
chr6:116288798 FRK a c.C715T p.R239X
chr6:152690106 SYNE1 a splice splice
chr10:34400099 PARD3 splice splice
chr10:129183056 DOCK1 c.G3747A p.W1249X
chr13:109859019 MYO16 a c.G5478A p.W1826X
chr15:58004192 GCOM1 c.C1315T p.R439X
chr16:7637291 RBFOX1 a c.C517T p.R173X
chr22:17588636 IL17RA c.C1065G p.Y355X
  1. Rare loss-of-function variants in genes with presumed neuronal genes were subjected to Sanger validation and familial segregation testing. Coordinates are based on the hg19 human genome reference build
  2. aGene is a potential ASD candidate gene in the SFARI Gene Database (https://gene.sfari.org/autdb/)