| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71553131G>A | CA1705980 | DYSF | c.1873G>A (p.Asp625Asn) c.1927G>A (p.Asp643Asn) c.1876G>A (p.Asp626Asn) c.1924G>A (p.Asp642Asn) c.1969G>A (p.Asp657Asn) c.1834G>A (p.Asp612Asn) c.1966G>A (p.Asp656Asn) c.1831G>A (p.Asp611Asn) n.2127G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71553131G>T | CA253909 | DYSF | c.1873G>T (p.Asp625Tyr) c.1927G>T (p.Asp643Tyr) c.1876G>T (p.Asp626Tyr) c.1924G>T (p.Asp642Tyr) c.1969G>T (p.Asp657Tyr) c.1834G>T (p.Asp612Tyr) c.1966G>T (p.Asp656Tyr) c.1831G>T (p.Asp611Tyr) n.2127G>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.71553131G= | CA1260095686 | DYSF | c.1873G= (p.Asp625=) c.1927G= (p.Asp643=) c.1876G= (p.Asp626=) c.1924G= (p.Asp642=) c.1969G= (p.Asp657=) c.1834G= (p.Asp612=) c.1966G= (p.Asp656=) c.1831G= (p.Asp611=) n.2127G= | dbSNP |