Table 1.
Analysis showing gene variants identified through filtering with the GEMINI platform
| HGVS Nomenclature* | Genes | NCBI ID | impact | polyphen | sift | cadd_scaled |
|---|---|---|---|---|---|---|
| n.612_615del | LINC00955 | NR_040045.1 | frame_shift | None | None | None |
| n.614_615del | LINC00955 | NR_040045.1 | frame_shift | None | None | None |
| c.1654T>C (p.Ser552Pro) | ARHGAP29 | NM_004815.3 | non_syn_coding | probably_damaging | deleterious | 25.3 |
| c.1210+18del | DDX20 | NM_007204.4 | splice_region | None | None | None |
| c.10332-5_10332-4insT | ASPM | NM_018136.4 | splice_region | None | None | None |
| c.577-5_577-4del | TSPAN8 | NM_004616.2 | splice_region | None | None | None |
| c.1138-3_1138-2del | HSPH1 | NM_006644.3 | splice_region | None | None | None |
| c.1138-2del | HSPH1 | NM_006644.3 | splice_region | None | None | None |
| c.2385_2387del p.Glu795del | GOLGA6L2 | NM_001304388.1 | inframe_codon_loss | None | None | None |
| c.1961C>T (p.Pro654Leu) | FAN1 | NM_014967.4 | non_syn_coding | probably_damaging | deleterious | 25.1 |
| c.455_457del p.Thr152_Cys153delinsSer | KRTAP9-1 | NM_001190460.1 | inframe_codon_loss | None | None | None |
| c.39+179del | CEP89 | NM_032816.4 | splice_region | None | None | None |
| c.404-4_404-3insAA | TASP1 | NM_017714.2 | splice_region | None | None | None |
| c.404-4dup | TASP1 | NM_017714.2 | splice_region | None | None | None |
| c.1963+130_1963+132del | TRAK1 | NM_001042646.2 | inframe_codon_loss | None | None | None |
| c.1963+130_1963+132dup | TRAK1 | NM_001042646.2 | inframe_codon_loss | None | None | None |
| c.2093_2095del p.Glu698del | TRAK1 | NM_001265608.1 | inframe_codon_loss | None | None | None |
| c.2093_2095dup p.Glu698dup | TRAK1 | NM_001265608.1 | inframe_codon_loss | None | None | None |
| n.909-4del | DPY19L2P1 | NR_002833.2 | splice_region | None | None | None |
*
The DNA mutation numbering system is based on cDNA sequence.