| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50524305C>A | CA412194231 | NCAPH2,SCO2 | c.107G>T (p.Trp36Leu) c.*930C>A (n.*930C>A) n.2958C>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50524305C>G | CA412194233 | NCAPH2,SCO2 | c.107G>C (p.Trp36Ser) c.*930C>G (n.*930C>G) n.2958C>G | ClinVar dbSNP |
| 22 | g.50524305C>T | CA117682 | NCAPH2,SCO2 | c.107G>A (p.Trp36Ter) c.*930C>T (n.*930C>T) n.2958C>T | ClinVar dbSNP gnomAD v4 |