Gene symbol | cDNA change | Protein change | Type | dbSNP (MAF) | Patient (Frequency/ Coverage) | Mother (Frequency/ Coverage) | Father (Frequency/ Coverage) | Polyphen | Sift | Mutation Taster |
---|---|---|---|---|---|---|---|---|---|---|
VEZT | c.1486G > A | p.V496I | Missense | rs10507051 (0.0302) | 100% / 17 | 17.9% / 28 | 35.0% / 80 | PD | T | DC |
ISX | c.248G > A | p.R83Q | Missense | rs8140287 (0.0308) | 100% / 13 | 37.5% / 24 | 50.0% / 70 | PrD | T | DC |
RASSF1 | c.409G > T | p.A137S | Missense | rs2073498 (0.0711) | 83.3% / 12 | 27.5% / 40 | 53.1% / 32 | B | T | P |
ADAMTS12 | c.3529 T > C | p.W1177R | Missense | rs3813474 (0.0513) | 100% / 51 | 42.0% / 88 | 45.0% / 40 | B | T | P |