| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143350637G>A | CA275467 | CLCN1 | c.2578G>A (p.Val860Ile) c.2402G>A n.2518G>A c.2602G>A (p.Val868Ile) c.1324G>A (p.Val442Ile) c.2152G>A (p.Val718Ile) c.2128G>A (p.Val710Ile) n.2533G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143350637G= | CA1748897759 | CLCN1 | c.2578G= (p.Val860=) c.2402G= n.2518G= c.2602G= (p.Val868=) c.1324G= (p.Val442=) c.2152G= (p.Val718=) c.2128G= (p.Val710=) n.2533G= | dbSNP |
| 7 | g.143350637G>T | CA369653332 | CLCN1 | c.2578G>T (p.Val860Phe) c.2402G>T n.2518G>T c.2602G>T (p.Val868Phe) c.1324G>T (p.Val442Phe) c.2152G>T (p.Val718Phe) c.2128G>T (p.Val710Phe) n.2533G>T | dbSNP gnomAD v4 COSMIC |