Location | Gene symbol | Gene name | Nucleotide change (cDNA) | Amino acid change | SIFT score | Polyphen-2 score |
---|---|---|---|---|---|---|
Chr2:29947531 | Zdhhc12 | zinc finger, DHHC domain containing 12 | c.381G>A | p.R112C | 0 | 0.999 |
Chr2:31793494 | Lamc3 | laminin gamma 3 | c.4202A>G | p.D1380G | 0.05 | 0.399 |
Chr7:132719753 | Il4ra | interleukin 4 receptor, alpha | c.1860delC | p.S540fs | N.A. | N.A. |
Chr10:79474903 | Abca7 | ATP-binding cassette, sub-family A (ABC1), member 7 | c.5477G>A | p.R1826H | 0.01 | 0.108 |
Chr15:99998371 | Dip2b | DIP2 disco-interacting protein 2 homolog B | c.1708G>A | p.A544T | 0.05 | 0.17 |
Chr17:25257897 | Ptx4 | pentraxin 4 | c.176A>T | p.R34S | 0* | 0.999 |
Chr19:4153338 | Coro1b | coronin, actin-binding protein 1B | c.1253C>T | p.R393W | 0 | 0.998 |