TABLE 3.
The gene list after filtering based on phenotype using ingenuity variant analysis.
| CHR | Position | Variation type | Gene symbol | Transcript ID | Transcript variant | Protein variant | Genotype |
| 3 | 14,561,629 | Missense | HOXD11 | NM_021192 | c.734 G > A | p.G245D | Het |
| 7 | 42,085,070 | Stop gain | GLI3 | NM_000168.5 | c.739 C > T | p.Y247* | Het |
| 22 | 20,779,975 | Insertion | SCARF2 | NM_153334.6 | c.2292dupG | p.E765fs*9 | Het |
| 22 | 20,780,032 | Insertion | SCARF2 | NM_153334.6 | c.2234dupC | p.R746fs*28 | Het |
| X | 15,286,4480 | Insertion | FAM58A | NM_001130997.2 | c.54dupG | p.Q19fs*39 | Het |
| X | 152,864,515 | Insertion | FAM58A | NM_001130997.2 | c.17dupG | p.G7fs*51 | Het |