| 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 |
| 12 | g.8605439C>G | CA383819350 | AICDA | c.203G>C (p.Trp68Ser) c.157-1102G>C (n.157-1102G>C) n.312G>C c.188G>C (p.Trp63Ser) n.323G>C c.236G>C (p.Trp79Ser) c.199G>C c.153-1102G>C n.237G>C | dbSNP gnomAD v4 |
| 12 | g.8605439C= | CA2015110636 | AICDA | c.203G= (p.Trp68=) c.157-1102G= (n.157-1102G=) n.312G= c.188G= (p.Trp63=) n.323G= c.236G= (p.Trp79=) c.199G= c.153-1102G= n.237G= | dbSNP |