| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144396571G>A | CA16042406 | ZEB2 | c.*2757C>T (n.*2757C>T) c.2131C>T (p.Gln711Ter) c.2908C>T (p.Gln970Ter) n.2877C>T c.2572C>T (p.Gln858Ter) c.2983C>T (p.Gln995Ter) c.*2625C>T (n.*2625C>T) n.3008C>T c.40C>T (p.Gln14Ter) c.439C>T (p.Gln147Ter) c.2905C>T (p.Gln969Ter) c.655+4628C>T (n.655+4628C>T) c.2836C>T (p.Gln946Ter) c.2899C>T (p.Gln967Ter) c.2887C>T (p.Gln963Ter) | ClinVar dbSNP |
| 2 | g.144396571G= | CA1294884116 | ZEB2 | c.*2757C= (n.*2757C=) c.2131C= (p.Gln711=) c.2908C= (p.Gln970=) n.2877C= c.2572C= (p.Gln858=) c.2983C= (p.Gln995=) c.*2625C= (n.*2625C=) n.3008C= c.40C= (p.Gln14=) c.439C= (p.Gln147=) c.2905C= (p.Gln969=) c.655+4628C= (n.655+4628C=) c.2836C= (p.Gln946=) c.2899C= (p.Gln967=) c.2887C= (p.Gln963=) | dbSNP |
| 2 | g.144396571G>C | CA348704828 | ZEB2 | c.*2757C>G (n.*2757C>G) c.2131C>G (p.Gln711Glu) c.2908C>G (p.Gln970Glu) n.2877C>G c.2572C>G (p.Gln858Glu) c.2983C>G (p.Gln995Glu) c.*2625C>G (n.*2625C>G) n.3008C>G c.40C>G (p.Gln14Glu) c.439C>G (p.Gln147Glu) c.2905C>G (p.Gln969Glu) c.655+4628C>G (n.655+4628C>G) c.2836C>G (p.Gln946Glu) c.2899C>G (p.Gln967Glu) c.2887C>G (p.Gln963Glu) | dbSNP gnomAD v4 |