Table 3. LUDLU-1 non-synonymous variants that are either somatic (first row) or germline but in cancer-associated genes (last 3 rows).
Variant GenomicCoordinate | Gene | dbSNP ID | Basevariant | Amino acidvariant | DNA ref:varallelic ratio | RNA ref:varallelic ratio |
Chr7∶99056827 | ATP5J2 | N/A (somatic) | T>C | T61A | 32∶24 | 992∶19 |
Chr17∶41244000 | BRCA1 | rs799917 | T>C | K1183R | 18∶12 | 9∶33 |
Chr17∶41244936 | BRCA1 | rs16942 | G>A | P871Q | 31∶25 | 7∶29 |
Chr3∶158320703 | MLF1 | rs77911695 | C>A | P201T | 36∶10 | 2015∶155 |