| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693321G>C | CA130289 | A4GALT,CYB5R3 | c.-49+27476C>G (n.-49+27476C>G) c.631C>G (p.Gln211Glu) | ClinVar dbSNP |
| 22 | g.42693321G= | CA2406870239 | A4GALT,CYB5R3 | c.-49+27476C= (n.-49+27476C=) c.631C= (p.Gln211=) | dbSNP |
| 22 | g.42693321G>A | CA411811908 | A4GALT,CYB5R3 | c.-49+27476C>T (n.-49+27476C>T) c.631C>T (p.Gln211Ter) | dbSNP gnomAD v4 |