| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.31064419G>T | CA370914446 | WRN | c.340G>T (p.Val114Phe) c.210-496G>T (n.210-496G>T) n.613G>T c.130G>T (p.Val44Phe) n.641G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.31064419G>A | CA156023 | WRN | c.340G>A (p.Val114Ile) c.210-496G>A (n.210-496G>A) n.613G>A c.130G>A (p.Val44Ile) n.641G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.31064419G>C | CA370914444 | WRN | c.340G>C (p.Val114Leu) c.210-496G>C (n.210-496G>C) n.613G>C c.130G>C (p.Val44Leu) n.641G>C | ClinVar dbSNP gnomAD v4 |