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 |