| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.8605439C>A | CA383819349 | AICDA | c.203G>T (p.Trp68Leu) c.157-1102G>T (n.157-1102G>T) n.312G>T c.188G>T (p.Trp63Leu) n.323G>T c.236G>T (p.Trp79Leu) c.199G>T c.153-1102G>T n.237G>T | dbSNP |
| 12 | g.8605439C>T | CA117268 | AICDA | c.203G>A (p.Trp68Ter) c.157-1102G>A (n.157-1102G>A) n.312G>A c.188G>A (p.Trp63Ter) n.323G>A c.236G>A (p.Trp79Ter) c.199G>A c.153-1102G>A n.237G>A | ClinVar dbSNP gnomAD v4 |