| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860374, LOC126860375 +417 more | Copy number gain | See cases | |
| | LOC130000227, LOC130000228 +541 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000405, LOC130000406 +489 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CEBPD, LOC121740717 +7 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Duplication (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Deletion (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |