| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43038891T>C | CA364191173 | CUL7 | n.2462A>G c.4391A>G (p.His1464Arg) n.789A>G c.*1047A>G (n.*1047A>G) n.5120A>G c.*2688A>G (n.*2688A>G) n.4674A>G n.4968A>G c.404A>G (p.His135Arg) c.2262A>G n.5230A>G c.4487A>G (p.His1496Arg) c.2883A>G c.4643A>G (p.His1548Arg) c.4547A>G (p.His1516Arg) c.2252A>G (p.His751Arg) c.4670A>G (p.His1557Arg) c.4574A>G (p.His1525Arg) c.4514A>G (p.His1505Arg) c.4418A>G (p.His1473Arg) c.4388A>G (p.His1463Arg) | dbSNP gnomAD v2 |
| 6 | g.43038891T>G | CA251899 | CUL7 | n.2462A>C c.4391A>C (p.His1464Pro) n.789A>C c.*1047A>C (n.*1047A>C) n.5120A>C c.*2688A>C (n.*2688A>C) n.4674A>C n.4968A>C c.404A>C (p.His135Pro) c.2262A>C n.5230A>C c.4487A>C (p.His1496Pro) c.2883A>C c.4643A>C (p.His1548Pro) c.4547A>C (p.His1516Pro) c.2252A>C (p.His751Pro) c.4670A>C (p.His1557Pro) c.4574A>C (p.His1525Pro) c.4514A>C (p.His1505Pro) c.4418A>C (p.His1473Pro) c.4388A>C (p.His1463Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |