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Results of in silico prediction tools for functional effect of the novel missense mutations
| Gene/Variant | SIFT score | PolyPhen score | Mutation taster |
|---|---|---|---|
| ENST00000614701, S867P | 0.787 (possibly damaging) | disease causing | |
| ENST00000300119, I935T | 0.908 (possibly damaging) | disease causing | |
