| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71682597C>A | CA347227170 | DYSF | c.3655C>A (p.Arg1219Ser) c.2872C>A (p.Arg958Ser) c.2980C>A (p.Arg994Ser) c.6124C>A (p.Arg2042Ser) c.6241C>A (p.Arg2081Ser) c.6127C>A (p.Arg2043Ser) c.6190C>A (p.Arg2064Ser) c.6238C>A (p.Arg2080Ser) c.6220C>A (p.Arg2074Ser) c.6148C>A (p.Arg2050Ser) c.6175C>A (p.Arg2059Ser) c.6178C>A (p.Arg2060Ser) c.6217C>A (p.Arg2073Ser) c.6187C>A (p.Arg2063Ser) n.3009C>A c.6082C>A (p.Arg2028Ser) c.6145C>A (p.Arg2049Ser) c.6085C>A (p.Arg2029Ser) c.6283C>A (p.Arg2095Ser) c.6280C>A (p.Arg2094Ser) | dbSNP |
| 2 | g.71682597C>T | CA222203 | DYSF | c.3655C>T (p.Arg1219Cys) c.2872C>T (p.Arg958Cys) c.2980C>T (p.Arg994Cys) c.6124C>T (p.Arg2042Cys) c.6241C>T (p.Arg2081Cys) c.6127C>T (p.Arg2043Cys) c.6190C>T (p.Arg2064Cys) c.6238C>T (p.Arg2080Cys) c.6220C>T (p.Arg2074Cys) c.6148C>T (p.Arg2050Cys) c.6175C>T (p.Arg2059Cys) c.6178C>T (p.Arg2060Cys) c.6217C>T (p.Arg2073Cys) c.6187C>T (p.Arg2063Cys) n.3009C>T c.6082C>T (p.Arg2028Cys) c.6145C>T (p.Arg2049Cys) c.6085C>T (p.Arg2029Cys) c.6283C>T (p.Arg2095Cys) c.6280C>T (p.Arg2094Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71682597C>G | CA347227172 | DYSF | c.3655C>G (p.Arg1219Gly) c.2872C>G (p.Arg958Gly) c.2980C>G (p.Arg994Gly) c.6124C>G (p.Arg2042Gly) c.6241C>G (p.Arg2081Gly) c.6127C>G (p.Arg2043Gly) c.6190C>G (p.Arg2064Gly) c.6238C>G (p.Arg2080Gly) c.6220C>G (p.Arg2074Gly) c.6148C>G (p.Arg2050Gly) c.6175C>G (p.Arg2059Gly) c.6178C>G (p.Arg2060Gly) c.6217C>G (p.Arg2073Gly) c.6187C>G (p.Arg2063Gly) n.3009C>G c.6082C>G (p.Arg2028Gly) c.6145C>G (p.Arg2049Gly) c.6085C>G (p.Arg2029Gly) c.6283C>G (p.Arg2095Gly) c.6280C>G (p.Arg2094Gly) | dbSNP |