TABLE 3.
Population frequency and pathogenicity prediction of four novel variants.
| CHCHD2 | DNAJC13 | SNCA | TMEM230 | |
| Nucleotide change | c.297C > A | c.2578C > T | c.14T > C | c.4C > T |
| A.A. alteration | p.Y99X | p.R860C | p.M5T | p.Q2X |
| Exonic Func. | Stopgain | non-syn | non-syn | stopgain |
| Hom/Het | Het | Het | Het | Het |
| Mode of Inheritance | AD | AD | AD | AD |
| gnomAD_exome_EAS | − | − | − | 9.96E-05 |
| ExAC_EAS | − | − | − | − |
| CADD | 43:D | 34:D | 15.00:T | 23.6:D |
| ReVe | 0.763:D | 0.997:D | 0.806:D | 0.265:T |
| SIFT | −:− | 0.0:D | 0.103:T | −:− |
| PolyPhen2-HVAR | −:− | 0.994:D | 0.922:D | −:− |
| Mutation taster | 1:D (NMD) | 1:D | 0.999:D | 1:D (NMD) |
| PhyloP | 5.919:Conserved | 5.795:Conserved | 2.147:Conserved | 0.163:Non-conserved |
| PhastCons | 1:Conserved | 1:Conserved | 1:Conserved | 0.002:Non-conserved |
Non-syn: non-synonymous mutation; Het: Heterozygous; D: deleterious; T: tolerable; NMD: non-sense mediated mRNA decay.