Table 1.
Variant table
| Gene | Chromosome | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect (substitution, deletion, etc.) | dbSNP/dbVar ID | Genotype | ClinVar ID | Parent of origin | Comments |
|---|---|---|---|---|---|---|---|---|---|---|
| KPTN | 19:47986551-47986551 C > T | NM_007059.2:c.394 + 1G > A | p.? | LoF | n/a | rs373139784 | Het. | 499654 | Maternally inherited | gnomAD Swedish, (12/26104), 0.046% |
| KPTN | 19:47983175-47983176 → ACCGACCACATCT GCAGA | NM_007059.2:c.714_731 dupTCTGCAGATGTGG | p.Leu239_Val244dup | In-frame | blosum: 4 | rs1399298568 | Het. | 100680 | Paternally inherited | gnomAD Swedish, (46/25962), 0.177% |
| CHD2 | 15:93567716-93567716 G > C | NM_001271.3:c.5268G > C | p.Gln1756His | Missense | SIFT: tolerated_low_confidence (0.33) | |||||
| PolyPhen-2: possibly_damaging (0.496) | rs201950393 | Het. | ClinVar 377653 | Maternally inherited | gnomAD Ashkenazi Jewish, (9/10362), 0.0869% | |||||
| CTDP1 | 18:77474679-77474679 T > C | NM_004715.4:c.1219T > C | p.Trp407Arg | Missense | SIFT: tolerated (0.59) | |||||
| PolyPhen-2: benign (0.007) | rs149090172 | Het. | n/a | Maternally inherited | gnomAD Other, (12/6882), 0.174% |