| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133639848C>T | CA5313039 | DBH | c.334-2359C>T (n.334-2359C>T) c.342C>T (p.Asp114=) c.298-2359C>T (n.298-2359C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133639848C>A | CA339913 | DBH | c.334-2359C>A (n.334-2359C>A) c.342C>A (p.Asp114Glu) c.298-2359C>A (n.298-2359C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |