| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225643T>A | CA217112387 | HBB | c.399A>T (p.Lys133Asn) c.*215A>T (n.*215A>T) | ClinVar dbSNP |
| 11 | g.5225643T>C | CA472638338 | HBB | c.399A>G (p.Lys133=) c.*215A>G (n.*215A>G) | dbSNP gnomAD v4 COSMIC |
| 11 | g.5225643T>G | CA217112390 | HBB | c.399A>C (p.Lys133Asn) c.*215A>C (n.*215A>C) | dbSNP |