Table 3 The variants in CYP17A1 of the study patients
Parental analysis | variants | variant type | HGMD ID | PolyPhen-2 | MutationTaster | |
|---|---|---|---|---|---|---|
Patient 1 | PA | c.775_776delAT (p.Ile259Hisfs*15) | deletion | HD030003 | NA | Disease causing |
MA | c.1298T > C(p.Leu433Ser) | missense | NA | Probably damaging | Disease causing | |
Patient 2 | PA | c.1226 C > G(p.Pro409Arg) | missense | CM012743 | Probably damaging | Disease causing |
MA | c.1226 C > G(p.Pro409Arg) | missense | CM012743 | Probably damaging | Disease causing | |
Patient 3 | PA | c.985_987delinsAA(p.Tyr329Lysfs*90) | indel | HX030003 | NA | Disease causing |
MA | c.1346G > A(p.Arg449His) | missense | NA | Probably damaging | Disease causing | |
Patient 4 | PA | c.1486 C > T(p.Arg496Cys) | missense | CM920226 | Probably damaging | Disease causing |
MA | c.1486 C > T(p.Arg496Cys) | missense | CM920226 | Probably damaging | Disease causing | |
Patient 5 | PA | c.1226 C > G(p.Pro409Arg) | missense | CM012743 | Probably damaging | Disease causing |
MA | c.1226 C > G(p.Pro409Arg) | missense | CM012743 | Probably damaging | Disease causing |