Table 1.
16 possible gene mutations identified with whole genome sequencing.
| Gene | Chromosome | Location | Ref → Seq | Tumor variant frequency | Coding | Amino acid change |
|---|---|---|---|---|---|---|
| FAM160B1 | chr10 | 114846067 | A → G | 0.2903 | c.1183A>G | p.M395V |
| MYBPC1 | chr12 | 101652686 | A → C | 0.2075 | c.1460A>C | p.K487T |
| CSPG4 | chr15 | 75689920 | A → C | 0.25 | c.1145T>G | p.L382R |
| GAN | chr16 | 81362563 | G → T | 0.45 | c.1038G>T | p.K346N |
| CIRBP | chr19 | 1272068 | G → C | 0.4444 | c.519G>C | p.E173D |
| PRX | chr19 | 40394057 | C → A | 0.4348 | c.4295G>T | p.G1432V |
| SF3B1 | chr2 | 197402759 | C → T | 0.5 | c.1874G>A | p.R625H |
| CABS1 | chr4 | 70335766 | G → A | 0.2927 | c.727G>A | p.D243N |
| TENM3 | chr4 | 182751942 | G → A | 0.2895 | c.3772G>A | p.A1258T |
| DMXL1 | chr5 | 119129367 | C → T | 0.2031 | c.1259C>T | p.P420L |
| PABPC1 | chr8 | 100706893 | G → A | 0.3227 | c.1424G>A | p.R475Q |
| HOXA3 | chr7 | 27110570 | A → C | 0.2034 | c.71T>G | p.F24C |
| CSGALNACT1 | chr8 | 19406045 | C → A | 0.3871 | c.1334G>T | p.G445V |
| PLEC | chr8 | 143917661 | C → T | 0.3438 | c.12571G>A | p.D4191N |
| RBL2 | chr16 | 53490280 | A → C | 0.25 | c.3400A>C | p.N1134H |
| RBL2 | chr16 | 53490281 | A → C | 0.2703 | c.3401A>C | p.N1134T |
| KIR2DL3 | chr19 | 54752514 | C → T | 0.6087 | c.1021C>T | p.P341S |