Table 1. Exon CNVs in the evaluation set.
A total of 31 known exon CNVs in the evaluation set that were previously identified by multiplex ligation-dependent probe amplification. CNV, copy number variant.
| Gene | CNV |
|---|---|
| BRCA1 | Exon 5-8 duplication |
| BRCA1 | Exon 13 duplication |
| BRCA1 | Exon 20 deletion |
| BRCA1 | Exon 1-12 deletion |
| BRCA1 | Exon 1-2 deletion |
| BRCA1 | Exon 21-24 deletion |
| BRCA1 | Exon 8-13 deletion |
| BRCA1 | Exon 16 deletion |
| BRCA1 | Exon 22 deletion |
| BRCA1 | Exon 20-22 deletion |
| BRCA2 | Exon 14-16 deletion |
| BRCA2 | Exon 1-11 deletion |
| BRCA2 | Exon 1-2 deletion |
| BRCA2 | Exon 2 deletion |
| BRCA2 | Exon 21 duplication |
| BRCA2 | Exon 21-24 deletion |
| EZH2 | Exon 1-20 deletion |
| FH | Exon 1-10 deletion |
| MLH1 | Exon 16-19 deletion |
| MSH2 | Exon 1-6 deletion |
| NSD1 | Exon 1-2 deletion |
| NSD1 | Exon 1-23 deletion |
| NSD1 | Exon 1-5 deletion |
| NSD1 | Exon 19-21 deletion |
| NSD1 | Exon 9-13 deletion |
| NSD1 | Exon 22 deletion |
| SDHB | Exon 1 deletion |
| SDHB | Exon 2-7 deletion |
| SDHB | Exon 3-8 deletion |
| TP53 | Exon 1-11 deletion |
| WT1 | Exon 1-10 deletion |