| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.31521854A>C | CA122596 | ZEB1 | c.2522A>C (p.Gln841Pro) c.2471A>C (p.Gln824Pro) c.2519A>C (p.Gln840Pro) c.*2659A>C (n.*2659A>C) n.3232A>C c.2318A>C (p.Gln773Pro) n.2777A>C n.2616A>C n.2588A>C c.2459A>C (p.Gln820Pro) c.2468A>C (p.Gln823Pro) c.1865A>C (p.Gln622Pro) c.2297A>C (p.Gln766Pro) c.2255A>C (p.Gln752Pro) c.2480A>C (p.Gln827Pro) c.2477A>C (p.Gln826Pro) c.2246A>C (p.Gln749Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.31521854A>G | CA376450506 | ZEB1 | c.2522A>G (p.Gln841Arg) c.2471A>G (p.Gln824Arg) c.2519A>G (p.Gln840Arg) c.*2659A>G (n.*2659A>G) n.3232A>G c.2318A>G (p.Gln773Arg) n.2777A>G n.2616A>G n.2588A>G c.2459A>G (p.Gln820Arg) c.2468A>G (p.Gln823Arg) c.1865A>G (p.Gln622Arg) c.2297A>G (p.Gln766Arg) c.2255A>G (p.Gln752Arg) c.2480A>G (p.Gln827Arg) c.2477A>G (p.Gln826Arg) c.2246A>G (p.Gln749Arg) | dbSNP gnomAD v2 |