| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144389740T>C | CA253288 | ZEB2 | c.*3205A>G (n.*3205A>G) c.2579A>G (p.Gln860Arg) c.3356A>G (p.Gln1119Arg) c.3244A>G (p.Arg1082Gly) n.3325A>G c.3020A>G (p.Gln1007Arg) c.3431A>G (p.Gln1144Arg) c.*3073A>G (n.*3073A>G) n.3456A>G c.151+6672A>G (n.151+6672A>G) c.576A>G (n.576A>G) c.887A>G (p.Gln296Arg) c.3353A>G (p.Gln1118Arg) c.656-858A>G (n.656-858A>G) c.3284A>G (p.Gln1095Arg) c.3347A>G (p.Gln1116Arg) c.3335A>G (p.Gln1112Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.144389740T= | CA1294881316 | ZEB2 | c.*3205A= (n.*3205A=) c.2579A= (p.Gln860=) c.3356A= (p.Gln1119=) c.3244A= (p.Arg1082=) n.3325A= c.3020A= (p.Gln1007=) c.3431A= (p.Gln1144=) c.*3073A= (n.*3073A=) n.3456A= c.151+6672A= (n.151+6672A=) c.576A= (n.576A=) c.887A= (p.Gln296=) c.3353A= (p.Gln1118=) c.656-858A= (n.656-858A=) c.3284A= (p.Gln1095=) c.3347A= (p.Gln1116=) c.3335A= (p.Gln1112=) | dbSNP |