Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71611527C>A | CA347228514 | DYSF | c.1536C>A (p.Ser512Arg) c.753C>A (p.Ser251Arg) c.711C>A (p.Ser237Arg) c.4068C>A (p.Ser1356Arg) c.4122C>A (p.Ser1374Arg) c.4071C>A (p.Ser1357Arg) c.4119C>A (p.Ser1373Arg) c.4164C>A (p.Ser1388Arg) c.4029C>A (p.Ser1343Arg) c.4161C>A (p.Ser1387Arg) n.304C>A n.452C>A n.953C>A n.287C>A n.366C>A c.4026C>A (p.Ser1342Arg) n.4322C>A | dbSNP |
2 | g.71611527C>T | CA147757 | DYSF | c.1536C>T (p.Ser512=) c.753C>T (p.Ser251=) c.711C>T (p.Ser237=) c.4068C>T (p.Ser1356=) c.4122C>T (p.Ser1374=) c.4071C>T (p.Ser1357=) c.4119C>T (p.Ser1373=) c.4164C>T (p.Ser1388=) c.4029C>T (p.Ser1343=) c.4161C>T (p.Ser1387=) n.304C>T n.452C>T n.953C>T n.287C>T n.366C>T c.4026C>T (p.Ser1342=) n.4322C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |