| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16182497C>G | CA394888400 | ABCC6 | c.2162G>C (p.Trp721Ser) n.2040-572G>C c.1820G>C (p.Trp607Ser) n.2397G>C n.2398G>C n.2199G>C c.2198G>C (p.Trp733Ser) n.2343G>C | dbSNP |
| 16 | g.16182497C>T | CA278647900 | ABCC6 | c.2162G>A (p.Trp721Ter) n.2040-572G>A c.1820G>A (p.Trp607Ter) n.2397G>A n.2398G>A n.2199G>A c.2198G>A (p.Trp733Ter) n.2343G>A | ClinVar dbSNP gnomAD v4 |