Table 1 Variant types and modes of inheritance of disorder-associated TCF20 variants, including those previously reported and those from our case report
De novo | Inherited (maternally) | Inherited (paternally) | Germline mosaic (suspected or confirmed) | Undetermined | TOTAL | Fraction of all variants (%) | |
|---|---|---|---|---|---|---|---|
SNV | 20 | 2 | 3 | 3 | 5 | 33 | 36,3 |
Indel | 32 | 2 | 2 | 2 | 8 | 46 | 50,5 |
CNV | 8 | 0 | 0 | 0 | 1 | 9 | 9,9 |
Other SV | 1 | 0 | 0 | 2 | 0 | 3 | 3,3 |
Total number of variants | 61 | 4 | 5 | 7 | 14 | 91 | |
Fraction of all variants (%) | 67,0 | 4,4 | 5,5 | 7,7 | 15,4 |
