Table 1.
Summary of Multilocus Variant Alleles
| Gene | Position (hg19) | Nucleotide Change | Protein Change | Zygosity | gnomAD Allele Count | REVEL Score | CADD Score (v.1.6) |
|---|---|---|---|---|---|---|---|
| CAPN3 | Chr15:42652262:C>G | c.259C>G | p.L87V | hmz | 37 htz, 0 hmz | 0.724 | 26 |
| MUSK | Chr9:113549972:C>T | c.1781C>T | p.A594V | hmz | 0 htz, 0 hmz | 0.629 | 27 |
| NAV2 | Chr11:19955717:G>A | c.1996G>A | p.G666R | hmz | 17 htz, 0 hmz | 0.105 | 23 |
| ZC4H2 | ChrX:64137743:T>G | c.595A>C | p.N199H | hemi | 0 htz, 0 hmz | 0.797 | 29 |
Abbreviations: hemi-hemizygous, hmz-homozygous, htz-heterozygous, REVEL-rare exome variant ensemble learner, CADD-Combined Annotation-Dependent Depletion