While no copy number variants were found, NGS analysis of the KRT14 patient revealed a heterozygous c.377T > G variant in the KRT14 gene, which was predicted to result in the amino acid substitution p.Leu126Arg (NM_000526.5 (c.377T > G, p.Leu126Arg). Squamous Cell Carcinoma is a common complication of the COL7A1 variant, unlike the KRT14 variant where they are not commonly predisposed to this complication. The gene discussed is COL7A1; the disease is squamous cell carcinoma.