| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16178884C>T | CA278645338 | ABCC6 | c.2329G>A (p.Asp777Asn) c.1987G>A (p.Asp663Asn) n.2564G>A n.2565G>A n.2366G>A c.2248-1258G>A (n.2248-1258G>A) c.2365G>A (p.Asp789Asn) n.2510G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.16178884C= | CA2210147930 | ABCC6 | c.2329G= (p.Asp777=) c.1987G= (p.Asp663=) n.2564G= n.2565G= n.2366G= c.2248-1258G= (n.2248-1258G=) c.2365G= (p.Asp789=) n.2510G= | dbSNP |