| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144398632G>A | CA348707999 | ZEB2 | c.*2404C>T (n.*2404C>T) c.1778C>T (p.Ser593Leu) c.2555C>T (p.Ser852Leu) n.2524C>T c.2219C>T (p.Ser740Leu) c.2630C>T (p.Ser877Leu) c.*2272C>T (n.*2272C>T) n.2655C>T c.86C>T (p.Ser29Leu) c.2552C>T (p.Ser851Leu) c.655+2567C>T (n.655+2567C>T) c.1168-704C>T (n.1168-704C>T) c.2483C>T (p.Ser828Leu) c.2546C>T (p.Ser849Leu) c.2534C>T (p.Ser845Leu) | dbSNP gnomAD v4 |
| 2 | g.144398632G>C | CA253283 | ZEB2 | c.*2404C>G (n.*2404C>G) c.1778C>G (p.Ser593Ter) c.2555C>G (p.Ser852Ter) n.2524C>G c.2219C>G (p.Ser740Ter) c.2630C>G (p.Ser877Ter) c.*2272C>G (n.*2272C>G) n.2655C>G c.86C>G (p.Ser29Ter) c.2552C>G (p.Ser851Ter) c.655+2567C>G (n.655+2567C>G) c.1168-704C>G (n.1168-704C>G) c.2483C>G (p.Ser828Ter) c.2546C>G (p.Ser849Ter) c.2534C>G (p.Ser845Ter) | ClinVar dbSNP |
| 2 | g.144398632G= | CA1294884969 | ZEB2 | c.*2404C= (n.*2404C=) c.1778C= (p.Ser593=) c.2555C= (p.Ser852=) n.2524C= c.2219C= (p.Ser740=) c.2630C= (p.Ser877=) c.*2272C= (n.*2272C=) n.2655C= c.86C= (p.Ser29=) c.2552C= (p.Ser851=) c.655+2567C= (n.655+2567C=) c.1168-704C= (n.1168-704C=) c.2483C= (p.Ser828=) c.2546C= (p.Ser849=) c.2534C= (p.Ser845=) | dbSNP |