| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254407T>C | CA124536 | HBG2 | c.200A>G (p.Lys67Arg) c.35A>G (p.Lys12Arg) c.1746A>G (n.1746A>G) c.170A>G (p.Lys57Arg) c.*69A>G (n.*69A>G) c.155T>C (p.Leu52Pro) | ClinVar dbSNP |
| 11 | g.5254407T>A | CA217121293 | HBG2 | c.200A>T (p.Lys67Met) c.35A>T (p.Lys12Met) c.1746A>T (n.1746A>T) c.170A>T (p.Lys57Met) c.*69A>T (n.*69A>T) c.155T>A (p.Leu52His) | dbSNP |
| 11 | g.5254407T= | CA1949577441 | HBG2 | c.200A= (p.Lys67=) c.35A= (p.Lys12=) c.1746A= (n.1746A=) c.170A= (p.Lys57=) c.*69A= (n.*69A=) c.155T= (p.Leu52=) | dbSNP |