Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.78617110T>C | CA7684542 | CHRNA3 | c.291A>G (p.Lys97=) n.792A>G c.90A>G (p.Lys30=) c.210A>G (p.Lys70=) n.493A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.78617110T>A | CA7684543 | CHRNA3 | c.291A>T (p.Lys97Asn) n.792A>T c.90A>T (p.Lys30Asn) c.210A>T (p.Lys70Asn) n.493A>T | dbSNP ExAC gnomAD v2 |