Gene | Location | Variant | Zygote | Pathogenicity prediction | GnomAD (MAF %) | |||||
---|---|---|---|---|---|---|---|---|---|---|
Fetus | Father | Mother | SIFT | Poly-Phen | Clin-Pred | Mutation Taster | ||||
TTN | chr2:179,392,289 | c.107564G > A(p.Ser35855Asn) | Hom | Het | Wild | Tol | Beni | Del | Poly | – |
MMADHC | chr2:150,432,353 | c.481 T > A(p.Phe161Ile) | Hom | Het | Wild | Del | Poss dam | Tol | Dis Caus | EA: 0.1220 |
ATP6V1B1 | chr2:71,190,308 | c.926A > G(p.Glu309Gly) | Hom | Het | Wild | Del | Beni | – | Dis Caus | EA: 0.4261 Fin: 0.003981 |
SA: 0.003266 | ||||||||||
VWA3B | chr2:98,709,718 | c.163A > T(p.Ile55Phe) | Hom | Het | Wild | Del | Prob Dam | Del | Poly | NFE: 0.001554 |
EA: 0.005119 |