| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.49638787C>G | CA395852594 | ZNF423 | c.389G>C (p.Gly130Ala) c.365G>C (p.Gly122Ala) c.14G>C (p.Gly5Ala) c.185G>C (p.Gly62Ala) c.410G>C (p.Gly137Ala) c.458G>C (p.Gly153Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.49638787C>A | CA16620209 | ZNF423 | c.389G>T (p.Gly130Val) c.365G>T (p.Gly122Val) c.14G>T (p.Gly5Val) c.185G>T (p.Gly62Val) c.410G>T (p.Gly137Val) c.458G>T (p.Gly153Val) | ClinVar dbSNP |