| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004670G>C | CA155308 | SUOX | c.1281G>C (p.Ser427=) c.*469G>C (n.*469G>C) c.1302G>C (p.Ser434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004670G>T | CA6621141 | SUOX | c.1281G>T (p.Ser427=) c.*469G>T (n.*469G>T) c.1302G>T (p.Ser434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004670G>A | CA6621142 | SUOX | c.1281G>A (p.Ser427=) c.*469G>A (n.*469G>A) c.1302G>A (p.Ser434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004670G= | CA2038197977 | SUOX | c.1281G= (p.Ser427=) c.*469G= (n.*469G=) c.1302G= (p.Ser434=) | dbSNP |