| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71568022A>T | CA147736 | DYSF | c.9A>T (p.Ser3=) c.2583A>T (p.Ser861=) c.2637A>T (p.Ser879=) c.2586A>T (p.Ser862=) c.2634A>T (p.Ser878=) c.2679A>T (p.Ser893=) c.2544A>T (p.Ser848=) c.2676A>T (p.Ser892=) c.2541A>T (p.Ser847=) n.2837A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71568022A= | CA1260102693 | DYSF | c.9A= (p.Ser3=) c.2583A= (p.Ser861=) c.2637A= (p.Ser879=) c.2586A= (p.Ser862=) c.2634A= (p.Ser878=) c.2679A= (p.Ser893=) c.2544A= (p.Ser848=) c.2676A= (p.Ser892=) c.2541A= (p.Ser847=) n.2837A= | dbSNP |
| 2 | g.71568022A>G | CA426701801 | DYSF | c.9A>G (p.Ser3=) c.2583A>G (p.Ser861=) c.2637A>G (p.Ser879=) c.2586A>G (p.Ser862=) c.2634A>G (p.Ser878=) c.2679A>G (p.Ser893=) c.2544A>G (p.Ser848=) c.2676A>G (p.Ser892=) c.2541A>G (p.Ser847=) n.2837A>G | dbSNP gnomAD v4 |