| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.61736905G>A | CA7215851 | HIF1A,HIF1A-AS3 | c.1045G>A (p.Asp349Asn) c.1048G>A (p.Asp350Asn) c.1117G>A (p.Asp373Asn) n.16G>A c.868G>A (p.Asp290Asn) n.213+13980C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.61736905G= | CA2141392007 | HIF1A,HIF1A-AS3 | c.1045G= (p.Asp349=) c.1048G= (p.Asp350=) c.1117G= (p.Asp373=) n.16G= c.868G= (p.Asp290=) n.213+13980C= | dbSNP |