| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3658019dup | CA342079 | CTNS | c.696dup (p.Val233ArgfsTer?) c.-58dup (n.-58dup) c.255dup (p.Val86ArgfsTer?) n.1289dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.3658019C= | CA2243976578 | CTNS | c.696C= (p.Arg232=) c.-58C= (n.-58C=) c.255C= (p.Arg85=) n.1289C= | dbSNP dbSNP |