| Gene | Mutation | From | Amino acid | Ployphen2 | Mutation Taster | ACMG |
---|---|---|---|---|---|---|---|
Patient 1 | NUP93 | c.1235A>C | Father | p.Tyr412Ser | 1.00 | D | PM2+PP2+PP3 |
c.1286A>G | Mother | p.Tyr429Cys | 0.655 | D | PM2+PP2+PP3 | ||
Patient 2 | NUP107 | c.1199G>A | Father | p.Gly400Glu | 1.00 | D | PM2+PP2+PP3 |
c.580C>T | Mother | p.Arg194* | NA | D | PVS1+PM1+PM2 | ||
Patient 3 | NUP107 | c.2564delC | Father | p.Pro855fsTer*23 | NA | D | PVS1+PM1+PM2 |
c.2753C>T | Mother | p.Pro918Leu | 1.00 | D | PM2+PM3+PP3 | ||
Patient 4 | NUP160 | c.3656T>G | Father | p.Leu1219Trp | 1.00 | N | PM2+PM3+PP3 |
c.2241+1G>T | Mother | NA | NA | D | PVS1+PM2 |