Skip to main content

Advertisement

Table 2 TCOF1 pathogenic variants in Chinese individuals with TCS

From: TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Family Subjects Nucleotide Protein Exons Predict effect Reference
1 3314, 3316 c.3047-2A > G p.(?) Intron 17 Splice This report, 1a
2 3538, 2313 c.2478 + 5G > A p.(?) Intron 14 Splice This report, 1a
3 2721,2848 c.489delC p.S164Qfs*55 5 Frameshift This report
4 3286, 3287, 3288,3289, 3290, 3291, 3292, 3293 c.648delC p.S217Qfs*2 6A Frameshift This report
  1. aThe location of the variants occurred were same as the reference, but the nucleotide changes were different