| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109561061A>C | CA358789 | MMAB | c.563T>G (p.Val188Gly) c.*128T>G (n.*128T>G) c.407T>G (p.Val136Gly) c.788T>G (n.788T>G) c.*444T>G (n.*444T>G) n.723T>G c.408T>G (p.Arg136=) c.290T>G (p.Val97Gly) c.287T>G (p.Val96Gly) n.674T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.109561061A= | CA2062448174 | MMAB | c.563T= (p.Val188=) c.*128T= (n.*128T=) c.407T= (p.Val136=) c.788T= (n.788T=) c.*444T= (n.*444T=) n.723T= c.408T= (p.Arg136=) c.290T= (p.Val97=) c.287T= (p.Val96=) n.674T= | dbSNP |