| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71564074C>G | CA222139 | DYSF | c.2372C>G (p.Pro791Arg) c.2426C>G (p.Pro809Arg) c.2375C>G (p.Pro792Arg) c.2423C>G (p.Pro808Arg) c.2468C>G (p.Pro823Arg) c.2333C>G (p.Pro778Arg) c.2465C>G (p.Pro822Arg) c.2330C>G (p.Pro777Arg) n.2626C>G | ClinVar dbSNP |
| 2 | g.71564074C>T | CA49742304 | DYSF | c.2372C>T (p.Pro791Leu) c.2426C>T (p.Pro809Leu) c.2375C>T (p.Pro792Leu) c.2423C>T (p.Pro808Leu) c.2468C>T (p.Pro823Leu) c.2333C>T (p.Pro778Leu) c.2465C>T (p.Pro822Leu) c.2330C>T (p.Pro777Leu) n.2626C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.71564074C>A | CA347211150 | DYSF | c.2372C>A (p.Pro791Gln) c.2426C>A (p.Pro809Gln) c.2375C>A (p.Pro792Gln) c.2423C>A (p.Pro808Gln) c.2468C>A (p.Pro823Gln) c.2333C>A (p.Pro778Gln) c.2465C>A (p.Pro822Gln) c.2330C>A (p.Pro777Gln) n.2626C>A | dbSNP gnomAD v2 |