| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.58563062C>G | CA509540720 | MZF1,MZF1-AS1 | c.1215G>C (p.Thr405=) c.*98G>C (n.*98G>C) n.1552G>C n.224+3653C>G c.1338G>C (p.Thr446=) c.1305G>C (p.Thr435=) c.1170G>C (p.Thr390=) c.363G>C (p.Thr121=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58563062C>T | CA9720337 | MZF1,MZF1-AS1 | c.1215G>A (p.Thr405=) c.*98G>A (n.*98G>A) n.1552G>A n.224+3653C>T c.1338G>A (p.Thr446=) c.1305G>A (p.Thr435=) c.1170G>A (p.Thr390=) c.363G>A (p.Thr121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |