| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.53470809T>C | CA8056586 | RBL2 | c.2590T>C (p.Leu864=) n.4381T>C n.2289T>C c.1720T>C (p.Leu574=) c.2368T>C (p.Leu790=) c.1942T>C (p.Leu648=) c.2443T>C (p.Leu815=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53470809T= | CA2223144002 | RBL2 | c.2590T= (p.Leu864=) n.4381T= n.2289T= c.1720T= (p.Leu574=) c.2368T= (p.Leu790=) c.1942T= (p.Leu648=) c.2443T= (p.Leu815=) | dbSNP |
| 16 | g.53470809T>G | CA395913787 | RBL2 | c.2590T>G (p.Leu864Val) n.4381T>G n.2289T>G c.1720T>G (p.Leu574Val) c.2368T>G (p.Leu790Val) c.1942T>G (p.Leu648Val) c.2443T>G (p.Leu815Val) | dbSNP gnomAD v4 |