| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.4762704A>G | CA7881492 | ZNF500 | c.467T>C (p.Phe156Ser) c.424T>C (p.Ser142Pro) c.116T>C (p.Phe39Ser) c.-158T>C (n.-158T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.4762704A= | CA2203508559 | ZNF500 | c.467T= (p.Phe156=) c.424T= (p.Ser142=) c.116T= (p.Phe39=) c.-158T= (n.-158T=) | dbSNP |