| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.37635811A>G | CA357920 | ZFP30 | c.730T>C (p.Cys244Arg) c.232+7454T>C (n.232+7454T>C) c.727T>C (p.Cys243Arg) c.739T>C (p.Cys247Arg) c.736T>C (p.Cys246Arg) | ClinVar dbSNP |
| 19 | g.37635811A>C | CA405572729 | ZFP30 | c.730T>G (p.Cys244Gly) c.232+7454T>G (n.232+7454T>G) c.727T>G (p.Cys243Gly) c.739T>G (p.Cys247Gly) c.736T>G (p.Cys246Gly) | dbSNP gnomAD v3 gnomAD v4 |