| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.112471290G>T | CA2539346 | BTLA | c.469C>A (p.Arg157Ser) c.404-1486C>A (n.404-1486C>A) c.487C>A (p.Arg163Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112471290G>C | CA353802341 | BTLA | c.469C>G (p.Arg157Gly) c.404-1486C>G (n.404-1486C>G) c.487C>G (p.Arg163Gly) | dbSNP |
| 3 | g.112471290G= | CA1393857176 | BTLA | c.469C= (p.Arg157=) c.404-1486C= (n.404-1486C=) c.487C= (p.Arg163=) | dbSNP |