| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Palmoplantar keratoderma,Striate(COL20A1) | thickness over the palms and soles | Autosomal Dominant | 20q13.33 | Missense Mutation | COL20A1 | 392C>G | Ser131Cys | Missense Mutation and PTC | 0/Khan MI et.al.,,,2018 |
