| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16177552G>A | CA7925901 | ABCC6 | c.2490C>T (p.Ala830=) c.2415+1246C>T (n.2415+1246C>T) c.2457C>T (p.Ala819=) c.2148C>T (p.Ala716=) n.2725C>T n.2726C>T n.2452+1246C>T c.2322C>T (p.Ala774=) c.2526C>T (p.Ala842=) n.2671C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16177552G= | CA2210147269 | ABCC6 | c.2490C= (p.Ala830=) c.2415+1246C= (n.2415+1246C=) c.2457C= (p.Ala819=) c.2148C= (p.Ala716=) n.2725C= n.2726C= n.2452+1246C= c.2322C= (p.Ala774=) c.2526C= (p.Ala842=) n.2671C= | dbSNP |