| 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 |
