| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43776260C>G | CA340776 | CSTB | c.10G>C (p.Gly4Arg) n.9G>C n.71G>C n.47G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.43776260C>A | CA321727953 | CSTB | c.10G>T (p.Gly4Trp) n.9G>T n.71G>T n.47G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.43776260C= | CA2391347016 | CSTB | c.10G= (p.Gly4=) n.9G= n.71G= n.47G= | dbSNP |