| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50524255G>C | CA412193856 | NCAPH2,SCO2 | c.157C>G (p.Gln53Glu) c.*880G>C (n.*880G>C) n.2908G>C | dbSNP |
| 22 | g.50524255G>A | CA117673 | NCAPH2,SCO2 | c.157C>T (p.Gln53Ter) c.*880G>A (n.*880G>A) n.2908G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50524255G= | CA2410906194 | NCAPH2,SCO2 | c.157C= (p.Gln53=) c.*880G= (n.*880G=) n.2908G= | dbSNP |