| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16182880A>G | CA278648318 | ABCC6 | c.1994T>C (p.Val665Ala) n.2040-955T>C c.1652T>C (p.Val551Ala) n.2229T>C n.2230T>C n.2031T>C c.2030T>C (p.Val677Ala) n.2175T>C | dbSNP gnomAD v4 |
| 16 | g.16182880A= | CA2210149758 | ABCC6 | c.1994T= (p.Val665=) n.2040-955T= c.1652T= (p.Val551=) n.2229T= n.2230T= n.2031T= c.2030T= (p.Val677=) n.2175T= | dbSNP |