| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.18663757G>T | CA1156806412 | PAX7 | c.586+27386G>T (n.586+27386G>T) c.580+27386G>T (n.580+27386G>T) | dbSNP |
| 1 | g.18663757G>A | CA18758815 | PAX7 | c.586+27386G>A (n.586+27386G>A) c.580+27386G>A (n.580+27386G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |