Table 1.
Germline and somatic variants identified in the proband via circulating tumor DNA analysis.
| Chromosome | Gene | Variant (DNA level) | Variant (protein level) | Effect | Type |
|---|---|---|---|---|---|
| 3 | BAP1 | c.1788delC | p.Ser596ArgfsTer21 | Frameshift | Somatic |
| 3 | BAP1 | c.850G>T | p.Glu284Ter | Nonsense | Germline |
| 4 | FGFR3 | c.746C>G | p.Ser249Cys | Missense | Somatic |
| 12 | KMT2D | c.6973delT | p.Asp2325MetfsTer7 | Frameshift | Somatic |
| 22 | EP300 | c.63insC | p.Ala22ArgfsTer17 | Frameshift | Somatic |
| X | KDM6A | c.2101_2102delTC | p.Ser701fsTer6 | Frameshift | Somatic |
| X | STAG2 | c.646C>T | p.Arg216Ter | Nonsense | Somatic |