Alteration | Gene | Amino acid alteration | CADD PHRED/GERP | P-value** (one-tailed) |
---|---|---|---|---|
chr1(GRCh37):g.186329959A > G | TPR | p.(Ile346Thr) | 23.9/4.47 | 0.012 |
chr1(GRCh37):g.206566903G > A | SRGAP2 | p.(Arg148Hist) | 34/5.6 | 1.0 |
chr14(GRCh37):g.14_17delinsAATG* | ACOT4 | p.(Ala189_Tyr190delinsGlnCys) | 22/5.25 | 0.058 |