| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16165722G>A | CA7925660 | ABCC6 | c.3207C>T (p.Tyr1069=) c.222C>T (p.Tyr74=) c.3032C>T (n.3032C>T) c.*416C>T (n.*416C>T) c.3174C>T (p.Tyr1058=) c.2865C>T (p.Tyr955=) n.3442C>T n.3443C>T n.3069C>T c.3039C>T (p.Tyr1013=) c.3243C>T (p.Tyr1081=) n.3388C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16165722G>T | CA278632971 | ABCC6 | c.3207C>A (p.Tyr1069Ter) c.222C>A (p.Tyr74Ter) c.3032C>A (n.3032C>A) c.*416C>A (n.*416C>A) c.3174C>A (p.Tyr1058Ter) c.2865C>A (p.Tyr955Ter) n.3442C>A n.3443C>A n.3069C>A c.3039C>A (p.Tyr1013Ter) c.3243C>A (p.Tyr1081Ter) n.3388C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |