Table 3.
Loss-of-function variants identified in cytoskeletal genes.
| Gene | Genomic Position | RefSNP | Transcript | Consequence | Effect | GnomAD MAF (%) |
|---|---|---|---|---|---|---|
| DMD | ChrX:31140001_31140013del | rs752332058 | ENST00000378723 | p.D615Efs*6 | Frameshift variant | 0.02491 |
| DMD | ChrX:31196048C>T | rs145603325 | ENST00000357033 | c.10262+1G>A | Splice donor | 0.02689 |
| FKTN | Chr9:108358933C>T | NA | ENST00000223528 | p.Q54* | Nonsense variant | NA |
| PDLIM3 | Chr4:186425651_186425652del | NA | ENST00000284771 | p.C246*fs*1 | Frameshift variant | NA |
GnomAD, Genome Aggregation Database; MAF, minor allele frequency; NA, not available; RefSNP, reference single-nucleotide polymorphism.