| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225607C>G | CA124724 | HBB | c.435G>C (p.Lys145Asn) c.*251G>C (n.*251G>C) | ClinVar dbSNP |
| 11 | g.5225607C>A | CA233188 | HBB | c.435G>T (p.Lys145Asn) c.*251G>T (n.*251G>T) | ClinVar dbSNP |
| 11 | g.5225607C>T | CA5839687 | HBB | c.435G>A (p.Lys145=) c.*251G>A (n.*251G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |