| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43822924G>C | CA1636304 | ABCG5,DYNC2LI1 | c.1336C>G (p.Arg446Gly) n.1720C>G c.823C>G (p.Arg275Gly) c.*210C>G (n.*210C>G) c.*605C>G (n.*605C>G) c.*16-4462G>C (n.*16-4462G>C) c.1201C>G (p.Arg401Gly) c.1093C>G (p.Arg365Gly) c.1066C>G (p.Arg356Gly) c.499C>G (p.Arg167Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43822924G>T | CA1636305 | ABCG5,DYNC2LI1 | c.1336C>A (p.Arg446=) n.1720C>A c.823C>A (p.Arg275=) c.*210C>A (n.*210C>A) c.*605C>A (n.*605C>A) c.*16-4462G>T (n.*16-4462G>T) c.1201C>A (p.Arg401=) c.1093C>A (p.Arg365=) c.1066C>A (p.Arg356=) c.499C>A (p.Arg167=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.43822924G>A | CA259825 | ABCG5,DYNC2LI1 | c.1336C>T (p.Arg446Ter) n.1720C>T c.823C>T (p.Arg275Ter) c.*210C>T (n.*210C>T) c.*605C>T (n.*605C>T) c.*16-4462G>A (n.*16-4462G>A) c.1201C>T (p.Arg401Ter) c.1093C>T (p.Arg365Ter) c.1066C>T (p.Arg356Ter) c.499C>T (p.Arg167Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.43822924G= | CA2493932804 | ABCG5,DYNC2LI1 | c.1336C= (p.Arg446=) n.1720C= c.823C= (p.Arg275=) c.*210C= (n.*210C=) c.*605C= (n.*605C=) c.*16-4462G= (n.*16-4462G=) c.1201C= (p.Arg401=) c.1093C= (p.Arg365=) c.1066C= (p.Arg356=) c.499C= (p.Arg167=) | dbSNP |