| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16159508G>A | CA278628748 | ABCC6 | c.3709C>T (p.Gln1237Ter) c.523C>T (p.Gln175Ter) c.3334C>T (n.3334C>T) c.*918C>T (n.*918C>T) c.3676C>T (p.Gln1226Ter) c.3367C>T (p.Gln1123Ter) n.3944C>T n.3745C>T n.539-273G>A n.3371C>T c.3541C>T (p.Gln1181Ter) c.3745C>T (p.Gln1249Ter) n.3890C>T n.3690C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16159508G= | CA2210131827 | ABCC6 | c.3709C= (p.Gln1237=) c.523C= (p.Gln175=) c.3334C= (n.3334C=) c.*918C= (n.*918C=) c.3676C= (p.Gln1226=) c.3367C= (p.Gln1123=) n.3944C= n.3745C= n.539-273G= n.3371C= c.3541C= (p.Gln1181=) c.3745C= (p.Gln1249=) n.3890C= n.3690C= | dbSNP |