| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39954436T>A | CA771883682 | GSDMA | c.-6+1131T>A (n.-6+1131T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39954436T>G | CA14448857 | GSDMA | c.-6+1131T>G (n.-6+1131T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39954436T= | CA2259327026 | GSDMA | c.-6+1131T= (n.-6+1131T=) | dbSNP |