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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
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172