| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50090678C>T | CA341138 | CLCN5 | c.2152C>T (p.Arg718Ter) c.1474C>T (p.Arg492Ter) c.1942C>T (p.Arg648Ter) c.2439C>T c.*1327C>T (n.*1327C>T) c.2002C>T (p.Arg668Ter) c.2224C>T (p.Arg742Ter) c.2014C>T (p.Arg672Ter) c.2164C>T (p.Arg722Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.50090678C>A | CA10413967 | CLCN5 | c.2152C>A (p.Arg718=) c.1474C>A (p.Arg492=) c.1942C>A (p.Arg648=) c.2439C>A c.*1327C>A (n.*1327C>A) c.2002C>A (p.Arg668=) c.2224C>A (p.Arg742=) c.2014C>A (p.Arg672=) c.2164C>A (p.Arg722=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |