TABLE 2.
Genes and variant positions within coding exons.
Annotation impact | Gene symbol | Gene name | Variant position (mRatBN7.2) | Amino acid change | Provean prediction | Variant strain |
---|---|---|---|---|---|---|
High | Ercc6l2 | ERCC excision repair 6 like 2 | chr17:1282819 | p.Cys419fs | DELETERIOUS | LN |
−15.98 | ||||||
Moderate | C17h6orf52 | Similar to human chromosome 5 open reading frame 52 | NEUTRAL | LH | ||
chr17:23762853 | p.Val103Ile | −0.055 | ||||
chr17:23771379 | p.Arg202His | −0.040 | ||||
chr17:23771391 | p.Cys206Tyr | −0.572 | ||||
Gcnt2 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | chr17:23900685 | p.Ala131Thr | NEUTRAL | LN | |
1.544 | ||||||
Ofcc1 | Orofacial cleft candidate 1 | chr17:24797711 | pThr845Ile | DELETERIOUS | LN | |
−3.767 |
Note: PROVEAN scores < −2.5 were considered deleterious by the prediction tool.