| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71553110G>C | CA277611 | DYSF | c.1852G>C (p.Gly618Arg) c.1906G>C (p.Gly636Arg) c.1855G>C (p.Gly619Arg) c.1903G>C (p.Gly635Arg) c.1948G>C (p.Gly650Arg) c.1813G>C (p.Gly605Arg) c.1945G>C (p.Gly649Arg) c.1810G>C (p.Gly604Arg) n.2106G>C | ClinVar dbSNP |
| 2 | g.71553110G>A | CA241938 | DYSF | c.1852G>A (p.Gly618Arg) c.1906G>A (p.Gly636Arg) c.1855G>A (p.Gly619Arg) c.1903G>A (p.Gly635Arg) c.1948G>A (p.Gly650Arg) c.1813G>A (p.Gly605Arg) c.1945G>A (p.Gly649Arg) c.1810G>A (p.Gly604Arg) n.2106G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.71553110G= | CA1260095673 | DYSF | c.1852G= (p.Gly618=) c.1906G= (p.Gly636=) c.1855G= (p.Gly619=) c.1903G= (p.Gly635=) c.1948G= (p.Gly650=) c.1813G= (p.Gly605=) c.1945G= (p.Gly649=) c.1810G= (p.Gly604=) n.2106G= | dbSNP |