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Bioinformatics parameters used for “stringent” or “relaxed” threshold filtering
| “Stringent” | “Relaxed” | |
|---|---|---|
| Conservation through Evolution (GERP++ score) | GERP++ > 4 | Not used |
| Functional Prediction Software (SIFT, PolyPhen2, MutationTaster) | 2 of 3 “Damaging” | 0 of 3 |
| EVS Allele Frequency | 0.1% | 1.0% |
| 1000G Local Population Frequency (any of 26) | 1% | Not used |
| Property of Transcript Selected | Longest | Longest |
