| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1452856C>T | CA344953 | CLCN7 | c.1252G>A (p.Val418Met) c.1180G>A (p.Val394Met) c.1078G>A (p.Val360Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1452856C>A | CA394189234 | CLCN7 | c.1252G>T (p.Val418Leu) c.1180G>T (p.Val394Leu) c.1078G>T (p.Val360Leu) | dbSNP gnomAD v2 gnomAD v4 |