Table 1 Genomic analysis
Gene | Chr | Nucleic acid(Exon) | amino acid | RS | Pathogenicity (ACMG) | Proband | Father | Mother |
|---|---|---|---|---|---|---|---|---|
COQ8B | chr19:41219990 | c.[271C > T](exon 4) | p.(Arg91Cys) | rs75497 5339 | Uncertain significance: PP3a | Het | Het | Wild type |
chr19:41209508 | c.[737G > A](exon 9) | p.(Ser246Asn) | rs2008 41458 | Uncertain significance: PP3b | Het | Wild type | Het | |
a(sift,Polyphen2_HDIV,Polyphen2_HVAR,PROVEAN,MutationTaster,M- CAP,REVEL,GERP,phyloP20way,phastCons20way) | ||||||||
Population data | Computational and predictive data | |||||||
Database | dbSNP | 1000 Genomes Project | ExAC (East Asia) | ExAC (South Asia) | GnomAD (East Asia) | Polyphen2 | SIFT | |
MAF | Not included | Not included | 0.00 | 0.00 | 0.00 | PROBABLY DAMAGING | Deleterious | |
b(sift,Polyphen2_HDIV,Polyphen2_HVAR,MutationTaster,M-CAP,GERP,phyloP20way,phastCons20way) | ||||||||
Population data | Computational and predictive data | |||||||
Database | dbSNP | 1000 Genomes Project | ExAC (East Asia) | ExAC (South Asia) | GnomAD (East Asia) | Polyphen2 | SIFT | |
MAF | 0.000088 | 0.0024 | 0.0013 | 0.00 | 0.018 | PROBABLY DAMAGING | Deleterious | |