| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254374T>C | CA124510 | HBG2 | c.233A>G (p.His78Arg) c.68A>G (p.His23Arg) c.203A>G (p.His68Arg) c.*102A>G (n.*102A>G) c.122T>C (p.Val41Ala) | ClinVar dbSNP |
| 11 | g.5254374T>A | CA217121251 | HBG2 | c.233A>T (p.His78Leu) c.68A>T (p.His23Leu) c.203A>T (p.His68Leu) c.*102A>T (n.*102A>T) c.122T>A (p.Val41Glu) | dbSNP |
| 11 | g.5254374T= | CA1949577351 | HBG2 | c.233A= (p.His78=) c.68A= (p.His23=) c.203A= (p.His68=) c.*102A= (n.*102A=) c.122T= (p.Val41=) | dbSNP |