| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16165784A>C | CA7925678 | ABCC6 | c.3145T>G (p.Ser1049Ala) c.160T>G (p.Ser54Ala) c.2970T>G (n.2970T>G) c.*354T>G (n.*354T>G) c.3112T>G (p.Ser1038Ala) c.2803T>G (p.Ser935Ala) n.3380T>G n.3381T>G n.3007T>G c.2977T>G (p.Ser993Ala) c.3181T>G (p.Ser1061Ala) n.3326T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16165784A= | CA2210140077 | ABCC6 | c.3145T= (p.Ser1049=) c.160T= (p.Ser54=) c.2970T= (n.2970T=) c.*354T= (n.*354T=) c.3112T= (p.Ser1038=) c.2803T= (p.Ser935=) n.3380T= n.3381T= n.3007T= c.2977T= (p.Ser993=) c.3181T= (p.Ser1061=) n.3326T= | dbSNP |