| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.183563302G>T | CA1284647 | NCF2,SMG7 | n.623C>A n.1103C>A c.1183C>A (p.Arg395=) c.1075C>A (p.Arg359=) c.1048C>A (p.Arg350=) c.940C>A (p.Arg314=) c.400C>A (p.Arg134=) c.136C>A (p.Arg46=) n.233+12112G>T n.1245C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183563302G>C | CA1284646 | NCF2,SMG7 | n.623C>G n.1103C>G c.1183C>G (p.Arg395Gly) c.1075C>G (p.Arg359Gly) c.1048C>G (p.Arg350Gly) c.940C>G (p.Arg314Gly) c.400C>G (p.Arg134Gly) c.136C>G (p.Arg46Gly) n.233+12112G>C n.1245C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183563302G>A | CA115437 | NCF2,SMG7 | n.623C>T n.1103C>T c.1183C>T (p.Arg395Trp) c.1075C>T (p.Arg359Trp) c.1048C>T (p.Arg350Trp) c.940C>T (p.Arg314Trp) c.400C>T (p.Arg134Trp) c.136C>T (p.Arg46Trp) n.233+12112G>A n.1245C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |