| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143351924C>T | CA248367 | CLCN1 | c.2926C>T (p.Arg976Ter) n.2866C>T c.2950C>T (p.Arg984Ter) c.1672C>T (p.Arg558Ter) c.2500C>T (p.Arg834Ter) c.2476C>T (p.Arg826Ter) n.2881C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351924C= | CA1748898396 | CLCN1 | c.2926C= (p.Arg976=) n.2866C= c.2950C= (p.Arg984=) c.1672C= (p.Arg558=) c.2500C= (p.Arg834=) c.2476C= (p.Arg826=) n.2881C= | dbSNP |