| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225602T>C | CA124799 | HBB | c.440A>G (p.His147Arg) c.*256A>G (n.*256A>G) | ClinVar dbSNP |
| 11 | g.5225602T>A | CA124809 | HBB | c.440A>T (p.His147Leu) c.*256A>T (n.*256A>T) | ClinVar dbSNP |
| 11 | g.5225602T>G | CA125245 | HBB | c.440A>C (p.His147Pro) c.*256A>C (n.*256A>C) | ClinVar dbSNP |
| 11 | g.5225602T= | CA1949564072 | HBB | c.440A= (p.His147=) c.*256A= (n.*256A=) | dbSNP |