| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.13948101T>C | CA152756 | ERCC4 | c.2643T>C (p.Ser881=) c.*2199T>C (n.*2199T>C) c.2505T>C (p.Ser835=) n.1782T>C c.1962T>C (p.Ser654=) c.1716T>C (p.Ser572=) c.1155T>C (p.Ser385=) n.2664T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948101T= | CA2209082864 | ERCC4 | c.2643T= (p.Ser881=) c.*2199T= (n.*2199T=) c.2505T= (p.Ser835=) n.1782T= c.1962T= (p.Ser654=) c.1716T= (p.Ser572=) c.1155T= (p.Ser385=) n.2664T= | dbSNP |