| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.112466178G>A | CA2539280 | BTLA | c.800C>T (p.Pro267Leu) c.656C>T (p.Pro219Leu) n.304C>T c.818C>T (p.Pro273Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.112466178G>C | CA353801216 | BTLA | c.800C>G (p.Pro267Arg) c.656C>G (p.Pro219Arg) n.304C>G c.818C>G (p.Pro273Arg) | dbSNP gnomAD v4 |
| 3 | g.112466178G= | CA1393855050 | BTLA | c.800C= (p.Pro267=) c.656C= (p.Pro219=) n.304C= c.818C= (p.Pro273=) | dbSNP |