| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16177518G>A | CA278644238 | ABCC6 | c.2524C>T (p.Gln842Ter) c.2415+1280C>T (n.2415+1280C>T) n.4C>T c.2491C>T (p.Gln831Ter) c.2182C>T (p.Gln728Ter) n.2759C>T n.2760C>T n.2452+1280C>T c.2356C>T (p.Gln786Ter) c.2560C>T (p.Gln854Ter) n.2705C>T | ClinVar dbSNP |
| 16 | g.16177518G= | CA2210147252 | ABCC6 | c.2524C= (p.Gln842=) c.2415+1280C= (n.2415+1280C=) n.4C= c.2491C= (p.Gln831=) c.2182C= (p.Gln728=) n.2759C= n.2760C= n.2452+1280C= c.2356C= (p.Gln786=) c.2560C= (p.Gln854=) n.2705C= | dbSNP |