| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144399542T>A | CA253275 | ZEB2 | c.*1494A>T (n.*1494A>T) c.868A>T (p.Arg290Ter) c.1645A>T (p.Arg549Ter) n.1614A>T c.1309A>T (p.Arg437Ter) c.1720A>T (p.Arg574Ter) c.*1362A>T (n.*1362A>T) n.1745A>T c.-133-692A>T (n.-133-692A>T) n.2193A>T c.1642A>T (p.Arg548Ter) c.655+1657A>T (n.655+1657A>T) c.1732A>T (p.Arg578Ter) c.1162A>T (p.Arg388Ter) c.1573A>T (p.Arg525Ter) c.1636A>T (p.Arg546Ter) c.1624A>T (p.Arg542Ter) | ClinVar dbSNP |
| 2 | g.144399542T>G | CA429445766 | ZEB2 | c.*1494A>C (n.*1494A>C) c.868A>C (p.Arg290=) c.1645A>C (p.Arg549=) n.1614A>C c.1309A>C (p.Arg437=) c.1720A>C (p.Arg574=) c.*1362A>C (n.*1362A>C) n.1745A>C c.-133-692A>C (n.-133-692A>C) n.2193A>C c.1642A>C (p.Arg548=) c.655+1657A>C (n.655+1657A>C) c.1732A>C (p.Arg578=) c.1162A>C (p.Arg388=) c.1573A>C (p.Arg525=) c.1636A>C (p.Arg546=) c.1624A>C (p.Arg542=) | dbSNP gnomAD v2 gnomAD v4 |