| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234034T>C | CA217123820 | HBD | c.272A>G (p.Glu91Gly) c.92+308A>G (n.92+308A>G) | dbSNP |
| 11 | g.5234034T>A | CA124647 | HBD | c.272A>T (p.Glu91Val) c.92+308A>T (n.92+308A>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5234034T= | CA1949564991 | HBD | c.272A= (p.Glu91=) c.92+308A= (n.92+308A=) | dbSNP |