| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144403925C>G | CA173953 | ZEB2 | c.*647G>C (n.*647G>C) c.21G>C (p.Gly7=) c.798G>C (p.Gly266=) n.767G>C c.462G>C (p.Gly154=) c.*515G>C (n.*515G>C) n.898G>C c.-133-5075G>C (n.-133-5075G>C) c.795G>C (p.Gly265=) c.882G>C (p.Gly294=) c.537G>C (p.Gly179=) c.885G>C (p.Gly295=) c.783G>C (p.Gly261=) c.726G>C (p.Gly242=) c.789G>C (p.Gly263=) c.777G>C (p.Gly259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144403925C>T | CA16603810 | ZEB2 | c.*647G>A (n.*647G>A) c.21G>A (p.Gly7=) c.798G>A (p.Gly266=) n.767G>A c.462G>A (p.Gly154=) c.*515G>A (n.*515G>A) n.898G>A c.-133-5075G>A (n.-133-5075G>A) c.795G>A (p.Gly265=) c.882G>A (p.Gly294=) c.537G>A (p.Gly179=) c.885G>A (p.Gly295=) c.783G>A (p.Gly261=) c.726G>A (p.Gly242=) c.789G>A (p.Gly263=) c.777G>A (p.Gly259=) | ClinVar dbSNP |