| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143351793C>T | CA258014 | CLCN1 | c.2795C>T (p.Pro932Leu) n.2735C>T c.2819C>T (p.Pro940Leu) c.1541C>T (p.Pro514Leu) c.2369C>T (p.Pro790Leu) c.2345C>T (p.Pro782Leu) n.2750C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.143351793C= | CA1748898335 | CLCN1 | c.2795C= (p.Pro932=) n.2735C= c.2819C= (p.Pro940=) c.1541C= (p.Pro514=) c.2369C= (p.Pro790=) c.2345C= (p.Pro782=) n.2750C= | dbSNP |