Table 2.
Genetic test results
| Gene | Description | Region | Zygotic | Reported (literature/BD) | gnomAD/ExAC/DGV | Classification (ACMG) |
|---|---|---|---|---|---|---|
| COL5A1 | NM_000093.4:c.488G>A p. (Gly163Asp) | Exon 3 (from 66) | Heterozygosity | - | - | VOUS |
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