Table 2 of
Luo, Mol Vis 2021; 27:632-642. Table 2 of
Luo, Mol Vis 2021; 27:632-642.
Table 2. NGS assay and ddPCR results.
| Patient NO. | NGS | ddPCR | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Locus | Type | Inheritance Mode | Novel CNV | SNV | pathogenicity of SNV | Gene | Locus | Type | Inheritance | |
| 1 | KIF11 | exon2–4 | Het Del | AD | Yes | - | - | KIF11 | exon2–4 | Het Del | De novo |
| 2 | KIF11 | exon1–10 | Het Del | AD | Yes | - | - | KIF11 | exon1–10 | Het Del | De novo |
| 3 | KIF11 | exon11 | Het Del | AD | Yes | NDP, c.*715T>C (-) | Uncertain | KIF11 | exon11 | Het Del | De novo |
| 4 | TSPAN12 | exon1–3 | Het Del | AD | Yes | - | - | TSPAN12 | exon1–3 | Het Del | Maternal |
| 5 | LRP5 | exon19–21 | Het Del | AD/AR | Yes | - | - | LRP5 | exon19–21 | Het Del | Paternal |
| 6 | TSPAN12 | whole | complete Het Del | AD | No | - | - | - | - | - | - |
| 7 | COL11A1 | whole | Dup | AD/AR | Yes | KIF11, c.1924C>G (p.P642A) CA4, c.83A>G (p.Q28R) | Uncertain | - | - | - | - |
| 8 | FZD4 | exon1 | Het Del | AD | No | - | - | - | - | - | - |