| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.61738090C>A | CA389927022 | HIF1A,HIF1A-AS3 | c.1253C>A (p.Thr418Lys) c.1256C>A (p.Thr419Lys) c.1325C>A (p.Thr442Lys) n.220+981C>A c.1076C>A (p.Thr359Lys) n.213+12795G>T | dbSNP |
| 14 | g.61738090C>T | CA7215893 | HIF1A,HIF1A-AS3 | c.1253C>T (p.Thr418Ile) c.1256C>T (p.Thr419Ile) c.1325C>T (p.Thr442Ile) n.220+981C>T c.1076C>T (p.Thr359Ile) n.213+12795G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |