| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693169C>T | CA115687 | A4GALT,CYB5R3 | c.-49+27628G>A (n.-49+27628G>A) c.783G>A (p.Trp261Ter) | ClinVar dbSNP |
| 22 | g.42693169C>G | CA10270217 | A4GALT,CYB5R3 | c.-49+27628G>C (n.-49+27628G>C) c.783G>C (p.Trp261Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693169C= | CA2406870158 | A4GALT,CYB5R3 | c.-49+27628G= (n.-49+27628G=) c.783G= (p.Trp261=) | dbSNP |