Table 2 The pathogenicity prediction of the candidate variants is summarized in this table. The annotation is based on Human GRCh37/hg19
Gene | NM | Ref/Alt | Chr. Position | Alternation | dbSNP | MutationTaster | SIFT | Provean | HSF | Polyphen-2 | gnomAD | 1000 Genome | Iranome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
XIRP2 | NM_001199144.1 | T/C | Chr2:168107737 | c.9835 T > C; p.(Ser3279Pro) | rs199990336 | B | B | B | – | PD | 1.93e-3 | NR | 0.01063 |
MAP3K19 | NM_001018044.2 | T/C | Chr2:135745772 | c.332 T > C; p.(Ile111Thr) | – | B | PD | B | – | B | NR | NR | NR |
RAB3GAP1 | NM_012233.2 | T/G | Chr2:135848563 | c.151-5 T > G; p.(Gly51IlefsTer15) | – | D | – | – | D | – | NR | NR | NR |