| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.61740835G>A | CA7216004 | HIF1A,HIF1A-AS3 | c.1740G>A (p.Leu580=) c.1743G>A (p.Leu581=) c.1812G>A (p.Leu604=) n.648G>A n.386G>A c.1563G>A (p.Leu521=) n.213+10050C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.61740835G>T | CA389928266 | HIF1A,HIF1A-AS3 | c.1740G>T (p.Leu580Phe) c.1743G>T (p.Leu581Phe) c.1812G>T (p.Leu604Phe) n.648G>T n.386G>T c.1563G>T (p.Leu521Phe) n.213+10050C>A | dbSNP gnomAD v4 |
| 14 | g.61740835G= | CA2141395923 | HIF1A,HIF1A-AS3 | c.1740G= (p.Leu580=) c.1743G= (p.Leu581=) c.1812G= (p.Leu604=) n.648G= n.386G= c.1563G= (p.Leu521=) n.213+10050C= | dbSNP |