Table 4.
Compound heterozygosity - Disease genes with CNVs and variants in the same individual
| Gene | Number of affected (Total = 69) | Number of unaffected (Total = 203) | CNV frequency |
|---|---|---|---|
| ATG7 | 13 | 26 | Rare |
| SNTG1 | 4 | 2 | Common |
| PTPRD | 4 | 3 | Rare |
| IL4R | 9 | 20 | Rare |
| HLA-DQA1 | 7 | 15 | Rare |
| KCNJ6 | 1 | 0 | Amish Specific |
| CCDC50 | 6 | 15 | Common |
| DICER1 | 1 | 1 | Amish Specific |
| GALNTL4 | 1 | 1 | Rare |
| ATP13A4 | 9 | 25 | Rare |
| ERBB4 | 1 | 3 | Common |
| MSR1 | 1 | 3 | Rare |
| PARK2 | 1 | 3 | Rare |
| RHD | 2 | 6 | Common |
| CDH13 | 0 | 1 | Rare |
| PRKG1 | 0 | 1 | Rare |
| WWOX | 3 | 10 | Common |
| SMARCA2 | 2 | 8 | Common |
| CYP2D6 | 0 | 3 | Rare |
| TUSC3 | 3 | 14 | Rare |
| UGT1A7 | 0 | 7 | Rare |
| UGT1A8 | 0 | 7 | Rare |
| UGT1A10 | 0 | 8 | Rare |
| UGT1A3 | 0 | 8 | Rare |
| CTNNA3 | 0 | 9 | Rare |
| CACNA1C | 0 | 14 | Common |
Counts in each column represent the number of individuals with both a CNV and another variant in the same gene.