| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75631459T>C | CA8767528 | RECQL5 | c.1439A>G (p.Asp480Gly) c.1358A>G (p.Asp453Gly) n.975A>G c.-95A>G (n.-95A>G) c.224A>G (p.Asp75Gly) c.302A>G (p.Asp101Gly) c.257A>G (p.Asp86Gly) c.239A>G (p.Asp80Gly) n.1611A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75631459T>A | CA8767529 | RECQL5 | c.1439A>T (p.Asp480Val) c.1358A>T (p.Asp453Val) n.975A>T c.-95A>T (n.-95A>T) c.224A>T (p.Asp75Val) c.302A>T (p.Asp101Val) c.257A>T (p.Asp86Val) c.239A>T (p.Asp80Val) n.1611A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |