Table 3.
Genetic information of the seven inherited rare variants identified in this study.
| Gene and SNP | Mutation Location | Inheritance | Taiwan Biobank | ALFA | PROVEAN | SIFT | PolyPhen-2 | Mutation Taster |
|---|---|---|---|---|---|---|---|---|
|
KLHL17 rs186429850 |
chr1:898542:A > G c.1096A > G p.T366A |
Maternal | 0.005137 | 0.000338 | Neutral | Tolerated | Benign | Disease causing |
|
TDO2 rs183229581 |
chr4:156835551:T > A c.803T > A p.F268Y |
Paternal | 0.01 | 0 | Neutral | Damaging | Probably damaging | Disease causing |
|
TRRAP rs55755466 |
chr7:98574585:G > C c.8250G > C p.E2750D |
Paternal | 0.007581 | 0.000317 | Neutral | Tolerated | Possibly damaging | Disease causing |
|
EIF3F rs367735033 |
chr11:8008909:C > T c.10C > T p.P4S |
Paternal | 0.003309 | 0.000066 | Neutral | Damaging | Damaging | Disease causing |
|
DICER1 rs772381832 |
chr14:95599687:T > A c.109A > T p.I37F |
Maternal | 0.000989 | 0.000008 | Neutral | Damaing | Probably damaging | Disease causing |
|
ATP10A rs184009994 |
chr15:25947187:C > T c.2636G > A p.R879H |
Paternal | 0.001648 | 0.000009 | Deleterious | Damaging | Possibly damaging | Disease causing |
|
CDH15 rs149963083 |
chr16:89246698:G > A c.292G > A D98N |
Paternal | 0.001649 | 0.000171 | Deleterious | Tolerated | Probably damaging | Disease causing |