| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16175946G>T | CA278643184 | ABCC6 | c.2631C>A (p.Thr877=) c.2456C>A (p.Pro819His) n.118C>A c.2598C>A (p.Thr866=) c.2289C>A (p.Thr763=) c.2638C>A (p.Leu880Ile) n.2866C>A n.2867C>A n.2493C>A c.2463C>A (p.Thr821=) c.2667C>A (p.Thr889=) n.2812C>A | ClinVar dbSNP |
| 16 | g.16175946G>A | CA394887000 | ABCC6 | c.2631C>T (p.Thr877=) c.2456C>T (p.Pro819Leu) n.118C>T c.2598C>T (p.Thr866=) c.2289C>T (p.Thr763=) c.2638C>T (p.Leu880Phe) n.2866C>T n.2867C>T n.2493C>T c.2463C>T (p.Thr821=) c.2667C>T (p.Thr889=) n.2812C>T | ClinVar dbSNP |
| 16 | g.16175946G= | CA2210146594 | ABCC6 | c.2631C= (p.Thr877=) c.2456C= (p.Pro819=) n.118C= c.2598C= (p.Thr866=) c.2289C= (p.Thr763=) c.2638C= (p.Leu880=) n.2866C= n.2867C= n.2493C= c.2463C= (p.Thr821=) c.2667C= (p.Thr889=) n.2812C= | dbSNP |