| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693200G>T | CA10270226 | A4GALT,CYB5R3 | c.-49+27597C>A (n.-49+27597C>A) c.752C>A (p.Pro251Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693200G>A | CA115685 | A4GALT,CYB5R3 | c.-49+27597C>T (n.-49+27597C>T) c.752C>T (p.Pro251Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |