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. 2017 Mar 21;7:258. doi: 10.1038/s41598-017-00208-6

Table 2.

The shared de novo mutations of DYNC1H1 among ASD, ID and EE.

Chr Mutation Protein change Mutation type Disorder Method Reference
Chr14 c.2467G > T p.Val823Leu SNV ASD WES Rubeis S et al. Nature33
Chr14 c.6698C > T p.Ala2233Val SNV ASD WES Rubeis S et al. Nature33
Chr14 c.7718A > G p.Asp2573Gly SNV ASD WES Rubeis S et al. Nature33
Chr14 c.12797A > T p.Asn4266Ile SNV ASD WES Rubeis S et al. Nature33
Chr14 c.12214G > A p.Gly4072Ser SNV ASD WES Iossifov I et al. Nature33
Chr14 c.925C > T p.Arg309Cys SNV ASD WES Krumm N et al. Nat Genet32
Chr14 c.11465A > C p.His3822Pro SNV ID WES Willemsen MH et al. J Med Genet27
Chr14 c.4552C > T p. Glu1518 Lys SNV ID WES Willemsen MH et al. J Med Genet27
Chr14 c.10174A > G p.Met3392Val SNV EE WES In this study