| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50676062C>T | CA8654984 | ABCC3 | c.3039C>T (p.Gly1013=) c.*1561C>T (n.*1561C>T) c.828C>T (n.828C>T) n.675C>T c.484C>T c.2847C>T (p.Gly949=) c.2952C>T (p.Gly984=) c.3144C>T (p.Gly1048=) c.2364C>T (p.Gly788=) c.2313C>T (p.Gly771=) n.3237C>T n.3238C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50676062C= | CA2264139550 | ABCC3 | c.3039C= (p.Gly1013=) c.*1561C= (n.*1561C=) c.828C= (n.828C=) n.675C= c.484C= c.2847C= (p.Gly949=) c.2952C= (p.Gly984=) c.3144C= (p.Gly1048=) c.2364C= (p.Gly788=) c.2313C= (p.Gly771=) n.3237C= n.3238C= | dbSNP |