| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.61740839C>T | CA7216005 | HIF1A,HIF1A-AS3 | c.1744C>T (p.Pro582Ser) c.1747C>T (p.Pro583Ser) c.1816C>T (p.Pro606Ser) n.652C>T n.390C>T c.1567C>T (p.Pro523Ser) n.213+10046G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.61740839C= | CA2141395930 | HIF1A,HIF1A-AS3 | c.1744C= (p.Pro582=) c.1747C= (p.Pro583=) c.1816C= (p.Pro606=) n.652C= n.390C= c.1567C= (p.Pro523=) n.213+10046G= | dbSNP |