| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144400257G>A | CA148686 | ZEB2 | c.*779C>T (n.*779C>T) c.153C>T (p.Tyr51=) c.930C>T (p.Tyr310=) n.899C>T c.594C>T (p.Tyr198=) c.1005C>T (p.Tyr335=) c.*647C>T (n.*647C>T) n.1030C>T c.-133-1407C>T (n.-133-1407C>T) n.1478C>T c.927C>T (p.Tyr309=) c.1014C>T (p.Tyr338=) c.655+942C>T (n.655+942C>T) c.1017C>T (p.Tyr339=) c.915C>T (p.Tyr305=) c.858C>T (p.Tyr286=) c.921C>T (p.Tyr307=) c.909C>T (p.Tyr303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144400257G>T | CA273388 | ZEB2 | c.*779C>A (n.*779C>A) c.153C>A (p.Tyr51Ter) c.930C>A (p.Tyr310Ter) n.899C>A c.594C>A (p.Tyr198Ter) c.1005C>A (p.Tyr335Ter) c.*647C>A (n.*647C>A) n.1030C>A c.-133-1407C>A (n.-133-1407C>A) n.1478C>A c.927C>A (p.Tyr309Ter) c.1014C>A (p.Tyr338Ter) c.655+942C>A (n.655+942C>A) c.1017C>A (p.Tyr339Ter) c.915C>A (p.Tyr305Ter) c.858C>A (p.Tyr286Ter) c.921C>A (p.Tyr307Ter) c.909C>A (p.Tyr303Ter) | ClinVar dbSNP |