Table 1.
Genetic background of patient ND6-WT. The table lists the alterations identified in distal and tumor samples from patient ND6-WT. Abbreviation: chrom = chromosome; ref = references.
| Gene | Chrom | Mutation | Description | Somatic Status | Ref |
|---|---|---|---|---|---|
| AXIN1 | 16 | c.2187–1869 A > G | Unknown – Intronic mutation | Confirmed somatic variant | - |
| 16 | c.1254 + 17G > A | Unknown – Intronic mutation |
Reported in another cancer sample as somatic |
16 | |
| 16 | c.−19 C > A | Unknown – Intronic mutation |
Reported in another cancer sample as somatic |
16 | |
| TSC2 | 16 | c.3814 + 932G > A | Unknown – Intronic mutation | Confirmed somatic variant | - |
| 16 | c.3751 + 226G > A | Unknown – Intronic mutation | Confirmed somatic variant | - | |
| KMT2C | 7 | c.2763 A > G | Substitution – Coding silent | Confirmed somatic variant | - |
| 7 | c.1012 + 13 C > T | Unknown – Intronic mutation | Confirmed somatic variant | - | |
| PTPRB | 12 | c.2189-88T > C | Unknown – Intronic mutation | Confirmed somatic variant | - |
| ATM | 11 | c.6347 + 131T > C | Unknown – Intronic mutation | Confirmed somatic variant | - |
| KMT2D | 12 | c.7479G > T | Substitution – Coding silent | Confirmed somatic variant | - |