| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43813262G>C | CA1636145 | ABCG5,DYNC2LI1 | c.1810C>G (p.Gln604Glu) n.2194C>G c.1297C>G (p.Gln433Glu) c.*684C>G (n.*684C>G) c.*1079C>G (n.*1079C>G) c.*15+2738G>C (n.*15+2738G>C) c.*20C>G (n.*20C>G) c.1762+1215C>G (n.1762+1215C>G) c.1675C>G (p.Gln559Glu) c.1567C>G (p.Gln523Glu) c.1540C>G (p.Gln514Glu) c.973C>G (p.Gln325Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43813262G= | CA2493927689 | ABCG5,DYNC2LI1 | c.1810C= (p.Gln604=) n.2194C= c.1297C= (p.Gln433=) c.*684C= (n.*684C=) c.*1079C= (n.*1079C=) c.*15+2738G= (n.*15+2738G=) c.*20C= (n.*20C=) c.1762+1215C= (n.1762+1215C=) c.1675C= (p.Gln559=) c.1567C= (p.Gln523=) c.1540C= (p.Gln514=) c.973C= (p.Gln325=) | dbSNP |