Gene Symbol | Position | Variation Type | Transcript Variant | Protein Variant | SIFT Function Prediction | PolyPhen-2 Function Prediction | Classification |
---|---|---|---|---|---|---|---|
KIAA1211 | 57180473 | Deletion | c.805delC | p.L269fsX13 | Â | Â | Uncertain Significance |
MMRN1 | 90855967 | SNV | c.1136A > T | p.K379I | Damaging | Possibly Damaging | Uncertain Significance |
SLC25A31 | 128665845 | SNV | c.251G > A | p.R84H | Damaging | Possibly Damaging | Uncertain Significance |
NPY5R | 164272419 | Deletion | c.997delG | p.V333fsX7 | Â | Â | Uncertain Significance |