| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71517028G>T | CA253918 | DYSF | c.895G>T (p.Gly299Trp) c.991G>T (p.Gly331Trp) c.898G>T (p.Gly300Trp) c.988G>T (p.Gly330Trp) n.1149G>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.71517028G>A | CA253916 | DYSF | c.895G>A (p.Gly299Arg) c.991G>A (p.Gly331Arg) c.898G>A (p.Gly300Arg) c.988G>A (p.Gly330Arg) n.1149G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71517028G>C | CA49761605 | DYSF | c.895G>C (p.Gly299Arg) c.991G>C (p.Gly331Arg) c.898G>C (p.Gly300Arg) c.988G>C (p.Gly330Arg) n.1149G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |