| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.179836445C>T | CA203866 | MRNIP,SQSTM1 | c.1175C>T (p.Pro392Leu) c.923C>T (p.Pro308Leu) c.951-26C>T (n.951-26C>T) c.*1245G>A (n.*1245G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179836445C>G | CA362453608 | MRNIP,SQSTM1 | c.1175C>G (p.Pro392Arg) c.923C>G (p.Pro308Arg) c.951-26C>G (n.951-26C>G) c.*1245G>C (n.*1245G>C) | dbSNP gnomAD v4 |
| 5 | g.179836445C= | CA1604336261 | MRNIP,SQSTM1 | c.1175C= (p.Pro392=) c.923C= (p.Pro308=) c.951-26C= (n.951-26C=) c.*1245G= (n.*1245G=) | dbSNP |