| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50523994C>T | CA117677 | NCAPH2,SCO2 | c.418G>A (p.Glu140Lys) c.*619C>T (n.*619C>T) n.2647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50523994C>G | CA412192791 | NCAPH2,SCO2 | c.418G>C (p.Glu140Gln) c.*619C>G (n.*619C>G) n.2647C>G | dbSNP |
| 22 | g.50523994C>A | CA412192789 | NCAPH2,SCO2 | c.418G>T (p.Glu140Ter) c.*619C>A (n.*619C>A) n.2647C>A | dbSNP |
| 22 | g.50523994C= | CA2410906025 | NCAPH2,SCO2 | c.418G= (p.Glu140=) c.*619C= (n.*619C=) n.2647C= | dbSNP |