| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71513823C>A | CA1705407 | DYSF | c.565C>A (p.Leu189Ile) c.661C>A (p.Leu221Ile) c.568C>A (p.Leu190Ile) c.658C>A (p.Leu220Ile) n.819C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71513823C>G | CA147767 | DYSF | c.565C>G (p.Leu189Val) c.661C>G (p.Leu221Val) c.568C>G (p.Leu190Val) c.658C>G (p.Leu220Val) n.819C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71513823C= | CA1260077363 | DYSF | c.565C= (p.Leu189=) c.661C= (p.Leu221=) c.568C= (p.Leu190=) c.658C= (p.Leu220=) n.819C= | dbSNP |
| 2 | g.71513823C>T | CA426698765 | DYSF | c.565C>T (p.Leu189=) c.661C>T (p.Leu221=) c.568C>T (p.Leu190=) c.658C>T (p.Leu220=) n.819C>T | ClinVar dbSNP |