| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.14882147T>A | CA384019644 | C12orf60,MGP | c.304A>T (p.Thr102Ser) n.126-21860T>A c.379A>T (p.Thr127Ser) n.76-17022T>A n.87-21860T>A c.167A>T | dbSNP |
| 12 | g.14882147T>C | CA6465115 | C12orf60,MGP | c.304A>G (p.Thr102Ala) n.126-21860T>C c.379A>G (p.Thr127Ala) n.76-17022T>C n.87-21860T>C c.167A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |