Gene / alteration Genomic position (hg19) Melanoma patients (n=48) Healthy controls (n=125) MITF / c.G1075A chr3: 70,014,091 1 1 TERT / c.T-57G chr5: 1,295,161 0 not tested

Table 1: Genomic variants investigated in MITF and TERT genes, with the respective genomic positions and frequency of these variants in the cohort of melanoma-prone patients.