| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143321718C>T | CA258032 | CLCN1 | c.566C>T (p.Ser189Phe) c.334C>T c.20C>T (p.Ser7Phe) c.24C>T n.24C>T n.653C>T c.273C>T (p.Leu91=) n.668C>T | ClinVar dbSNP |
| 7 | g.143321718C= | CA1748881622 | CLCN1 | c.566C= (p.Ser189=) c.334C= c.20C= (p.Ser7=) c.24C= n.24C= n.653C= c.273C= (p.Leu91=) n.668C= | dbSNP |