| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5248418C>T | CA124580 | HBG1,HBG2 | c.385G>A (p.Ala129Thr) c.448G>A (p.Ala150Thr) n.1316G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.5248418C>A | CA379278997 | HBG1,HBG2 | c.385G>T (p.Ala129Ser) c.448G>T (p.Ala150Ser) n.1316G>T | dbSNP gnomAD v4 |
| 11 | g.5248418C= | CA1949582194 | HBG1,HBG2 | c.385G= (p.Ala129=) c.448G= (p.Ala150=) n.1316G= | dbSNP |