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. 2019 Aug 2;4:100089. doi: 10.1016/j.eurox.2019.100089

Table 1.

Summary of the three damaged de novo SNVs by whole-genome sequencing (WGS) analysis.

No. Genes Cytoband Genome_Change cDNA_Change Codon_Change Protein_Change Family ID
1 TNK2 3q29 g.chr3:195597011G > C c.1517C > G c.(1516-1518)cCc > cGc p.P506R trio04
2 PIK3CD 1p36.2 g.chr1:9780813G > A c.1535 G > A c.(1534-1536)cGg > cAg p.R512Q trio06
3 SLC4A10 2q24.2 g.chr2:162719515C > T c.709C > T c.(709-711)Cgt > Tgt p.R237C trio09