| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004978G>A | CA116471 | SUOX | c.1589G>A (p.Gly530Asp) c.1610G>A (p.Gly537Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004978G= | CA2038198116 | SUOX | c.1589G= (p.Gly530=) c.1610G= (p.Gly537=) | dbSNP |
| 12 | g.56004978G>T | CA385298720 | SUOX | c.1589G>T (p.Gly530Val) c.1610G>T (p.Gly537Val) | dbSNP gnomAD v4 |