Family number | Gene | Clinical phenotype | mutation site | allelic frequency in ExAC | parental origin | GERP score | CADD score | MutationTaster | PROVEAN | SIFT |
---|---|---|---|---|---|---|---|---|---|---|
PRE011 | DNAH11 | situs inversus; cardiac defects | c.13288G>A p.(Gly4430Glu) | 8.14E-06 | maternal | 5.5199 | 34 | Disease causing | Damaging | Damaging |
c.8533_8536delinsATCCG | not reported | paternal | N/A | 36 | N/A | N/A | N/A | |||
PRE032 | RAF1 | multiple congenital abnormalities | c.778A>C p.(Trp260Pro) | not reported | de novo | 5.73 | 23.6 | Disease causing | Neutral | Damaging |
PRE033 | CHD7 | cystic hygroma; pulmonary atresia (PA-IVS) | c.2957+1G>A | not reported | de novo | 5.53 | 25.5 | Disease causing | N/A | N/A |