| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.96242495G>A | CA2156834405 | BDKRB2 | c.*991G>A (n.*991G>A) c.74+5314G>A (n.74+5314G>A) n.255+100G>A | dbSNP |
| 14 | g.96242495G>T | CA14071367 | BDKRB2 | c.*991G>T (n.*991G>T) c.74+5314G>T (n.74+5314G>T) n.255+100G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |