| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63693247C>T | CA144786 | RTEL1,RTEL1-TNFRSF6B | n.1703C>T c.3028C>T (p.Arg1010Ter) c.2287C>T (p.Arg763Ter) c.2956C>T (p.Arg986Ter) n.2967C>T c.691C>T (p.Arg231Ter) n.3041C>T c.*558C>T (n.*558C>T) n.2438C>T c.835C>T (p.Arg279Ter) n.3783C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63693247C>A | CA9965672 | RTEL1,RTEL1-TNFRSF6B | n.1703C>A c.3028C>A (p.Arg1010=) c.2287C>A (p.Arg763=) c.2956C>A (p.Arg986=) n.2967C>A c.691C>A (p.Arg231=) n.3041C>A c.*558C>A (n.*558C>A) n.2438C>A c.835C>A (p.Arg279=) n.3783C>A | ClinVar dbSNP ExAC gnomAD v2 |