| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143321729G>A | CA341547 | CLCN1 | c.577G>A (p.Glu193Lys) c.345G>A c.31G>A (p.Glu11Lys) c.35G>A n.35G>A n.664G>A c.284G>A (p.Arg95Gln) n.679G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.143321729G= | CA1748881661 | CLCN1 | c.577G= (p.Glu193=) c.345G= c.31G= (p.Glu11=) c.35G= n.35G= n.664G= c.284G= (p.Arg95=) n.679G= | dbSNP |