| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173540C>A | CA393994551 | HBA2 | c.369C>A (p.His123Gln) c.273C>A (p.His91Gln) n.505C>A | ClinVar dbSNP gnomAD v2 |
| 16 | g.173540C>G | CA7770181 | HBA2 | c.369C>G (p.His123Gln) c.273C>G (p.His91Gln) n.505C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.173540C>T | CA492785390 | HBA2 | c.369C>T (p.His123=) c.273C>T (p.His91=) n.505C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |