| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144401292G>A | CA272834 | ZEB2 | c.*672C>T (n.*672C>T) c.46C>T (p.Gln16Ter) c.823C>T (p.Gln275Ter) n.792C>T c.487C>T (p.Gln163Ter) c.*540C>T (n.*540C>T) n.923C>T c.-133-2442C>T (n.-133-2442C>T) n.1371C>T c.820C>T (p.Gln274Ter) c.907C>T (p.Gln303Ter) c.562C>T (p.Gln188Ter) c.910C>T (p.Gln304Ter) c.808C>T (p.Gln270Ter) c.751C>T (p.Gln251Ter) c.814C>T (p.Gln272Ter) c.802C>T (p.Gln268Ter) | ClinVar dbSNP |
| 2 | g.144401292G>C | CA1898406 | ZEB2 | c.*672C>G (n.*672C>G) c.46C>G (p.Gln16Glu) c.823C>G (p.Gln275Glu) n.792C>G c.487C>G (p.Gln163Glu) c.*540C>G (n.*540C>G) n.923C>G c.-133-2442C>G (n.-133-2442C>G) n.1371C>G c.820C>G (p.Gln274Glu) c.907C>G (p.Gln303Glu) c.562C>G (p.Gln188Glu) c.910C>G (p.Gln304Glu) c.808C>G (p.Gln270Glu) c.751C>G (p.Gln251Glu) c.814C>G (p.Gln272Glu) c.802C>G (p.Gln268Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.144401292G= | CA1294885996 | ZEB2 | c.*672C= (n.*672C=) c.46C= (p.Gln16=) c.823C= (p.Gln275=) n.792C= c.487C= (p.Gln163=) c.*540C= (n.*540C=) n.923C= c.-133-2442C= (n.-133-2442C=) n.1371C= c.820C= (p.Gln274=) c.907C= (p.Gln303=) c.562C= (p.Gln188=) c.910C= (p.Gln304=) c.808C= (p.Gln270=) c.751C= (p.Gln251=) c.814C= (p.Gln272=) c.802C= (p.Gln268=) | dbSNP |