Table 1.
Rare FUS Variants that Have Been Identified in ET-Affected Individuals
| Identification | Exon |
Mutation Nomenclature |
Ethnically Matched Control Cohort |
||||
|---|---|---|---|---|---|---|---|
| Coding (NM_004960.3) | Genomic (hg19) | Protein | Individuals Screened | Alleles with Variant | Allele Frequency | ||
| Through exome sequencing | exon 9 | c.868C>T | chr16: g.31200479C>T | p.Gln290∗ | 450 | 0/900 | 0% |
| During the subsequent screening of an ET cohort | exon 6 | c.646C>T | chr16: g.31196382C>T | p.Arg216Cys | 450 | 1/900 | 0.1% |
| exon 12 | c.1292C>T | chr16: g.31201719C>T | p.Pro431Leu | 450 | 0/900 | 0% | |