Table 1.
List of pathogenic mutations identified by targeted deep sequencing.
| ID | Gene | Mutation (exon, cDNA, protein) | Type of mutation | Depth of coverage | Mutant allele frequency |
|---|---|---|---|---|---|
| GIST_406 | NF1 | Exon 22, c.C2875T, p.Q959X | Stop Gain | 123X | 47% |
| GIST_251 | NF1 | Exon 14, c.C1555T, p.Q519X | Stop Gain | 213X | 37% |
| GIST_203 | NF1 | Exon 28, c.3721delC, p.R1241fs | Frameshift deletion | 403X | 93% |
| GIST_260 | KIT | Exon 11, c.T1657C, p.W557R | Missense | 396X (18379X) | 14% (23%) |
| GIST_241 | KIT | Exon 9, c.1502_1503insTGCCTA, p.S501delinsSAY | In-frame insertion | 391X (5763X) | 12% (9%) |
| GIST_307 | KIT | Exon 11, c.1723_1724insAACTTCCTTATG, p.Q575delinsQLPYE | In-frame insertion | 468X | 16% |
| GIST_218 | KIT | Exon 11, c.1726insC;1726_1764dup, p.L576_R588dup | In-frame insertion | 274X | 12% |
| GIST_169 | KIT | Exon 11, c. 1648_1672del, p.550_558del | In-frame deletion | 100X | 49% |
The table lists the depth of coverage and the mutant allele frequency of the TSCA target sequencing assay. In brackets there are the same values for the KIT exon 9 and exon 11 Nextera-XT PCR amplicon assay.
Bold values indicate the samples with low-allele-fraction mutations.