| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16169827G>C | CA7925777 | ABCC6 | c.2814C>G (p.Tyr938Ter) c.2639C>G (n.2639C>G) c.*23C>G (n.*23C>G) c.2781C>G (p.Tyr927Ter) c.2472C>G (p.Tyr824Ter) n.3049C>G n.3050C>G n.2676C>G c.2646C>G (p.Tyr882Ter) c.2850C>G (p.Tyr950Ter) n.2995C>G | ClinVar dbSNP ExAC gnomAD v4 |
| 16 | g.16169827G>T | CA10605453 | ABCC6 | c.2814C>A (p.Tyr938Ter) c.2639C>A (n.2639C>A) c.*23C>A (n.*23C>A) c.2781C>A (p.Tyr927Ter) c.2472C>A (p.Tyr824Ter) n.3049C>A n.3050C>A n.2676C>A c.2646C>A (p.Tyr882Ter) c.2850C>A (p.Tyr950Ter) n.2995C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.16169827G= | CA2210143327 | ABCC6 | c.2814C= (p.Tyr938=) c.2639C= (n.2639C=) c.*23C= (n.*23C=) c.2781C= (p.Tyr927=) c.2472C= (p.Tyr824=) n.3049C= n.3050C= n.2676C= c.2646C= (p.Tyr882=) c.2850C= (p.Tyr950=) n.2995C= | dbSNP |