| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3658102C>T | CA8291893 | CTNS | c.779C>T (p.Thr260Ile) c.26C>T (p.Thr9Ile) c.338C>T (p.Thr113Ile) n.1372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.3658102C>G | CA397692531 | CTNS | c.779C>G (p.Thr260Ser) c.26C>G (p.Thr9Ser) c.338C>G (p.Thr113Ser) n.1372C>G | dbSNP |
| 17 | g.3658102C>A | CA397692530 | CTNS | c.779C>A (p.Thr260Asn) c.26C>A (p.Thr9Asn) c.338C>A (p.Thr113Asn) n.1372C>A | dbSNP |