| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254324C>T | CA124504 | HBG2 | c.283G>A (p.Asp95Asn) c.118G>A (p.Asp40Asn) c.253G>A (p.Asp85Asn) c.*152G>A (n.*152G>A) c.72C>T (p.Val24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254324C= | CA1949577271 | HBG2 | c.283G= (p.Asp95=) c.118G= (p.Asp40=) c.253G= (p.Asp85=) c.*152G= (n.*152G=) c.72C= (p.Val24=) | dbSNP |