| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3659974C>G | CA253164 | CTNS | c.969C>G (p.Asn323Lys) c.216C>G (p.Asn72Lys) c.528C>G (p.Asn176Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.3659974C>T | CA8291966 | CTNS | c.969C>T (p.Asn323=) c.216C>T (p.Asn72=) c.528C>T (p.Asn176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |