Table 3 Genomic description and annotation of mutations detected by MinION sequencing or other molecular assays (ASO-PCR: Allele Specific Oligonucleotide PCR; SS: Sanger Sequencing).
Patient | Gene | Variant | Hotspot mutation | Mutation type | Protein description | Impact | Allelic Ratio (%) | Validation method | Varscan detection | Nanopolish detection | Depth of coverage |
|---|---|---|---|---|---|---|---|---|---|---|---|
CLL#2 | SF3B1 | chr2:198267360T>C | yes | SNV | p.K666R | MODERATE | 11.75 | ASO-PCR | yes | no | 722 |
CLL#2 | NOTCH1 | chr9:139390721G>C | yes | SNV | p.Y2490X | HIGH | 27.14 | SS | yes | no | 73 |
CLL#4 | BIRC3 | chr11:102206703T>G | no | SNV | p.L444X | HIGH | 10.04 | SS | yes | no | 323 |
CLL#5 | TP53 | chr17:7577022G>A | no | SNV | p.R306* | HIGH | 84.14 | SS | yes | yes | 156 |
CLL#8 | TP53 | chr17:7577121G>T | yes | SNV | p.R273G | MODERATE | 47.54 | SS | yes | yes | 70 |
CLL#8 | NOTCH1 | chr9:139390649AG/— | no | INDEL | p.P2514fs*4 | HIGH | 20.69 | SS | yes | no | 62 |
CLL#9 | TP53 | chr17:7578478G>C | no | SNV | p.P19R | MODERATE | 57.50 | SS | yes | yes | 91 |
CLL#12 | NOTCH1 | chr9:139390649AG/— | yes | INDEL | p.P2514fs*4 | HIGH | 20.69 | SS | yes | no | 86 |
