| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254405C>T | CA128617 | HBG2 | c.202G>A (p.Val68Met) c.37G>A (p.Val13Met) c.1748G>A (n.1748G>A) c.172G>A (p.Val58Met) c.*71G>A (n.*71G>A) c.153C>T (p.His51=) | ClinVar dbSNP |
| 11 | g.5254405C>A | CA379264369 | HBG2 | c.202G>T (p.Val68Leu) c.37G>T (p.Val13Leu) c.1748G>T (n.1748G>T) c.172G>T (p.Val58Leu) c.*71G>T (n.*71G>T) c.153C>A (p.His51Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |