| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71551073G>A | CA253913 | DYSF | c.1555G>A (p.Gly519Arg) c.1609G>A (p.Gly537Arg) c.1558G>A (p.Gly520Arg) c.1606G>A (p.Gly536Arg) c.1651G>A (p.Gly551Arg) c.1516G>A (p.Gly506Arg) c.1648G>A (p.Gly550Arg) c.1513G>A (p.Gly505Arg) n.1809G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.71551073G>T | CA347217357 | DYSF | c.1555G>T (p.Gly519Trp) c.1609G>T (p.Gly537Trp) c.1558G>T (p.Gly520Trp) c.1606G>T (p.Gly536Trp) c.1651G>T (p.Gly551Trp) c.1516G>T (p.Gly506Trp) c.1648G>T (p.Gly550Trp) c.1513G>T (p.Gly505Trp) n.1809G>T | ClinVar dbSNP |
| 2 | g.71551073G= | CA1260094718 | DYSF | c.1555G= (p.Gly519=) c.1609G= (p.Gly537=) c.1558G= (p.Gly520=) c.1606G= (p.Gly536=) c.1651G= (p.Gly551=) c.1516G= (p.Gly506=) c.1648G= (p.Gly550=) c.1513G= (p.Gly505=) n.1809G= | dbSNP |