| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.78629887T>C | CA7684967 | CHRNB4 | c.418A>G (p.Ser140Gly) c.359+1189A>G (n.359+1189A>G) c.*474A>G (n.*474A>G) c.601A>G (p.Ser201Gly) c.409A>G (p.Ser137Gly) c.328A>G (p.Ser110Gly) c.253A>G (p.Ser85Gly) c.196A>G (p.Ser66Gly) c.-129A>G (n.-129A>G) c.542+1189A>G (n.542+1189A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.78629887T= | CA2189575305 | CHRNB4 | c.418A= (p.Ser140=) c.359+1189A= (n.359+1189A=) c.*474A= (n.*474A=) c.601A= (p.Ser201=) c.409A= (p.Ser137=) c.328A= (p.Ser110=) c.253A= (p.Ser85=) c.196A= (p.Ser66=) c.-129A= (n.-129A=) c.542+1189A= (n.542+1189A=) | dbSNP |