| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.58563286T>C | CA9720405 | MZF1,MZF1-AS1 | c.991A>G (p.Ile331Val) c.773-26A>G (n.773-26A>G) n.1328A>G n.224+3877T>C c.1114A>G (p.Ile372Val) c.1081A>G (p.Ile361Val) c.946A>G (p.Ile316Val) c.139A>G (p.Ile47Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58563286T>G | CA407952327 | MZF1,MZF1-AS1 | c.991A>C (p.Ile331Leu) c.773-26A>C (n.773-26A>C) n.1328A>C n.224+3877T>G c.1114A>C (p.Ile372Leu) c.1081A>C (p.Ile361Leu) c.946A>C (p.Ile316Leu) c.139A>C (p.Ile47Leu) | dbSNP gnomAD v3 gnomAD v4 |