| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.154571833T>A | CA1130809 | CHRNB2 | c.1010T>A (p.Val337Asp) c.1016T>A (p.Val339Asp) c.500T>A (p.Val167Asp) n.1262T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154571833T>G | CA343927 | CHRNB2 | c.1010T>G (p.Val337Gly) c.1016T>G (p.Val339Gly) c.500T>G (p.Val167Gly) n.1262T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |