| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71526343C>T | CA347213670 | DYSF | c.1177C>T (p.Gln393Ter) c.1273C>T (p.Gln425Ter) c.1180C>T (p.Gln394Ter) c.1270C>T (p.Gln424Ter) n.1431C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71526343C= | CA1260083073 | DYSF | c.1177C= (p.Gln393=) c.1273C= (p.Gln425=) c.1180C= (p.Gln394=) c.1270C= (p.Gln424=) n.1431C= | dbSNP |