| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.145642426del | CA347897 | MMAA | c.503del (p.Thr168MetfsTer10) c.*287del (n.*287del) c.*22del (n.*22del) n.991del c.8del (p.Thr3MetfsTer10) | ClinVar dbSNP gnomAD v4 |
| 4 | g.145642426C= | CA1501196062 | MMAA | c.503C= (p.Thr168=) c.*287C= (n.*287C=) c.*22C= (n.*22C=) n.991C= c.8C= (p.Thr3=) | dbSNP dbSNP |