| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63693211C>T | CA130951 | RTEL1,RTEL1-TNFRSF6B | n.1667C>T c.2992C>T (p.Arg998Ter) c.2251C>T (p.Arg751Ter) c.2920C>T (p.Arg974Ter) n.2931C>T c.655C>T (p.Arg219Ter) n.3005C>T c.*522C>T (n.*522C>T) n.2402C>T c.799C>T (p.Arg267Ter) n.3747C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63693211C>G | CA409683310 | RTEL1,RTEL1-TNFRSF6B | n.1667C>G c.2992C>G (p.Arg998Gly) c.2251C>G (p.Arg751Gly) c.2920C>G (p.Arg974Gly) n.2931C>G c.655C>G (p.Arg219Gly) n.3005C>G c.*522C>G (n.*522C>G) n.2402C>G c.799C>G (p.Arg267Gly) n.3747C>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63693211C>A | CA511661371 | RTEL1,RTEL1-TNFRSF6B | n.1667C>A c.2992C>A (p.Arg998=) c.2251C>A (p.Arg751=) c.2920C>A (p.Arg974=) n.2931C>A c.655C>A (p.Arg219=) n.3005C>A c.*522C>A (n.*522C>A) n.2402C>A c.799C>A (p.Arg267=) n.3747C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |