| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71515660G>C | CA347208444 | DYSF | c.701G>C (p.Gly234Ala) c.797G>C (p.Gly266Ala) c.704G>C (p.Gly235Ala) c.794G>C (p.Gly265Ala) n.955G>C | ClinVar dbSNP |
| 2 | g.71515660G>A | CA275400 | DYSF | c.701G>A (p.Gly234Glu) c.797G>A (p.Gly266Glu) c.704G>A (p.Gly235Glu) c.794G>A (p.Gly265Glu) n.955G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |