| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.150755063G>C | CA30110752 | CTSS | c.337C>G (p.Arg113Gly) n.444C>G c.127-3055C>G (n.127-3055C>G) c.249+2795C>G (n.249+2795C>G) c.160C>G (p.Arg54Gly) n.276C>G | dbSNP gnomAD v4 |
| 1 | g.150755063G>A | CA1080293 | CTSS | c.337C>T (p.Arg113Trp) n.444C>T c.127-3055C>T (n.127-3055C>T) c.249+2795C>T (n.249+2795C>T) c.160C>T (p.Arg54Trp) n.276C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |