| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.48530596T>C | CA8631798 | HOXB1 | c.309A>G (p.Gln103=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.48530596T>G | CA400085400 | HOXB1 | c.309A>C (p.Gln103His) | dbSNP |
| 17 | g.48530596T>A | CA8631797 | HOXB1 | c.309A>T (p.Gln103His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |