| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.10206437T>G | CA10575776 | CLCN4 | c.635T>G (p.Val212Gly) c.659T>G (p.Val220Gly) c.353T>G (p.Val118Gly) c.*409T>G (n.*409T>G) c.433-259T>G (n.433-259T>G) | ClinVar dbSNP |
| X | g.10206437T= | CA2415187867 | CLCN4 | c.635T= (p.Val212=) c.659T= (p.Val220=) c.353T= (p.Val118=) c.*409T= (n.*409T=) c.433-259T= (n.433-259T=) | dbSNP |