| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.23693872C>A | CA416612146 | RPL11 | c.220C>A (p.Arg74=) n.241C>A c.190C>A (p.Arg64=) c.*319C>A (n.*319C>A) n.217C>A c.223C>A (p.Arg75=) c.217C>A (p.Arg73=) n.520C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.23693872C>T | CA253595 | RPL11 | c.220C>T (p.Arg74Ter) n.241C>T c.190C>T (p.Arg64Ter) c.*319C>T (n.*319C>T) n.217C>T c.223C>T (p.Arg75Ter) c.217C>T (p.Arg73Ter) n.520C>T | ClinVar dbSNP COSMIC |
| 1 | g.23693872C= | CA1141580662 | RPL11 | c.220C= (p.Arg74=) n.241C= c.190C= (p.Arg64=) c.*319C= (n.*319C=) n.217C= c.223C= (p.Arg75=) c.217C= (p.Arg73=) n.520C= | dbSNP |