Table 3.
Rare Genetic Variants Identified in Men With FHH
| Subject | Gene | Nucleotide Change | AA Change | Zygosity | Genomic Location | Transcript | Minor Allele Frequency (gnomAD) | Polyphen | SIFT | Mutation Taster |
|---|---|---|---|---|---|---|---|---|---|---|
| 7 | CHD7 | c.7043G>A | p.G2348D | Het | Chr 8: 61768640G>A | NM_017780 | 4.14 × 10−06 | Probably damaging | Deleterious | Disease causing |
| 9 | NSMF | c.1025G>T | p.G342V | Het | Chr9: 140347530C>A | NM_001130969 | 4.48 × 10−05 | Probably damaging | Deleterious | Disease causing |
Abbreviations: AA, amino acid; gnomAD: gnomad database (http://gnomad.broadinstitute.org); het, heterozygous.