| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50524129G>A | CA321053 | NCAPH2,SCO2 | c.283C>T (p.Arg95Cys) c.*754G>A (n.*754G>A) n.2782G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50524129G= | CA2410906102 | NCAPH2,SCO2 | c.283C= (p.Arg95=) c.*754G= (n.*754G=) n.2782G= | dbSNP |
| 22 | g.50524129G>C | CA412193241 | NCAPH2,SCO2 | c.283C>G (p.Arg95Gly) c.*754G>C (n.*754G>C) n.2782G>C | ClinVar dbSNP |