Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50524353C>A | CA10321306 | NCAPH2,SCO2 | c.59G>T (p.Arg20Leu) c.*978C>A (n.*978C>A) n.3006C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50524353C>G | CA293438 | NCAPH2,SCO2 | c.59G>C (p.Arg20Pro) c.*978C>G (n.*978C>G) n.3006C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50524353C>T | CA10321307 | NCAPH2,SCO2 | c.59G>A (p.Arg20Gln) c.*978C>T (n.*978C>T) n.3006C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |