| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43082648T>C | CA117012 | UBR1 | c.407A>G (p.His136Arg) c.*54A>G (n.*54A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.43082648T>A | CA392084312 | UBR1 | c.407A>T (p.His136Leu) c.*54A>T (n.*54A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43082648T= | CA2173027206 | UBR1 | c.407A= (p.His136=) c.*54A= (n.*54A=) | dbSNP |