| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004183C>A | CA116470 | SUOX | c.794C>A (p.Ala265Asp) c.297C>A (p.Cys99Ter) c.815C>A (p.Ala272Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004183C= | CA2038197761 | SUOX | c.794C= (p.Ala265=) c.297C= (p.Cys99=) c.815C= (p.Ala272=) | dbSNP |
| 12 | g.56004183C>G | CA385287845 | SUOX | c.794C>G (p.Ala265Gly) c.297C>G (p.Cys99Trp) c.815C>G (p.Ala272Gly) | dbSNP gnomAD v4 |