| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693404A>T | CA115683 | A4GALT,CYB5R3 | c.-49+27393T>A (n.-49+27393T>A) c.548T>A (p.Met183Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693404A>G | CA411812124 | A4GALT,CYB5R3 | c.-49+27393T>C (n.-49+27393T>C) c.548T>C (p.Met183Thr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.42693404A= | CA2406870277 | A4GALT,CYB5R3 | c.-49+27393T= (n.-49+27393T=) c.548T= (p.Met183=) | dbSNP |