| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78039150G>C | CA354052 | AP3B1 | c.2555C>G (p.Ser852Cys) n.502C>G c.2595C>G (n.2595C>G) c.1901C>G (p.Ser634Cys) c.*2464C>G (n.*2464C>G) c.2645C>G (p.Ser882Cys) c.2696C>G (p.Ser899Cys) n.417C>G c.2702C>G (p.Ser901Cys) n.2860C>G n.354C>G c.*227C>G (n.*227C>G) c.2522C>G (p.Ser841Cys) c.2567C>G (p.Ser856Cys) c.1C>G | ClinVar dbSNP |
| 5 | g.78039150G= | CA1557269251 | AP3B1 | c.2555C= (p.Ser852=) n.502C= c.2595C= (n.2595C=) c.1901C= (p.Ser634=) c.*2464C= (n.*2464C=) c.2645C= (p.Ser882=) c.2696C= (p.Ser899=) n.417C= c.2702C= (p.Ser901=) n.2860C= n.354C= c.*227C= (n.*227C=) c.2522C= (p.Ser841=) c.2567C= (p.Ser856=) c.1C= | dbSNP |