| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71551631C>T | CA222133 | DYSF | c.1663C>T (p.Arg555Trp) c.1717C>T (p.Arg573Trp) c.1666C>T (p.Arg556Trp) c.1714C>T (p.Arg572Trp) c.1759C>T (p.Arg587Trp) c.1624C>T (p.Arg542Trp) c.1756C>T (p.Arg586Trp) c.1621C>T (p.Arg541Trp) n.1917C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71551631C= | CA1260094993 | DYSF | c.1663C= (p.Arg555=) c.1717C= (p.Arg573=) c.1666C= (p.Arg556=) c.1714C= (p.Arg572=) c.1759C= (p.Arg587=) c.1624C= (p.Arg542=) c.1756C= (p.Arg586=) c.1621C= (p.Arg541=) n.1917C= | dbSNP |