Table 6 New diagnoses made by the ES pipeline that were previously not reported
ID | Genomic coordinates (hg19) | Gene | Size (bp) | CNV | Number of exons | SNPs in SNP array | Comment | Confirmation method |
|---|---|---|---|---|---|---|---|---|
1 | chr12:116,457,030-116,460,406 | MED13L | 3376 | Het del | 3 | 3 | Under SNP array resolution | ddPCR |
2 | chr6:33,405,980-33,409,266 | SYNGAP1 | 3286 | Het del | 5 | 4 | Under SNP array resolution | ddPCR |
3 | chr3:191,888,248-192,126,012 | FGF12 | 237,765 | Dup | 4 | 123 | Not known disease gene | SNP array and breakpoint sequencing |
4 | chr4:123,976,639-123,989,201 | SPATA5 | 12,562 | Het del | 2 | 3 | Under SNP array resolution, in trans with SNV | ddPCR and breakpoint sequencing |