| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50524071C>T | CA143840 | NCAPH2,SCO2 | c.341G>A (p.Arg114His) c.*696C>T (n.*696C>T) n.2724C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50524071C= | CA2410906072 | NCAPH2,SCO2 | c.341G= (p.Arg114=) c.*696C= (n.*696C=) n.2724C= | dbSNP |
| 22 | g.50524071C>G | CA412193040 | NCAPH2,SCO2 | c.341G>C (p.Arg114Pro) c.*696C>G (n.*696C>G) n.2724C>G | ClinVar dbSNP |