| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.182586632C>T | CA1278338 | RNASEL | c.175G>A (p.Gly59Ser) n.458G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.182586632C>G | CA343646027 | RNASEL | c.175G>C (p.Gly59Arg) n.458G>C | dbSNP gnomAD v4 |
| 1 | g.182586632C>A | CA343646026 | RNASEL | c.175G>T (p.Gly59Cys) n.458G>T | dbSNP |