| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133642351G>A | CA5313145 | DBH | c.478G>A (p.Ala160Thr) c.631G>A (p.Ala211Thr) c.442G>A (p.Ala148Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.133642351G= | CA1882776218 | DBH | c.478G= (p.Ala160=) c.631G= (p.Ala211=) c.442G= (p.Ala148=) | dbSNP |
| 9 | g.133642351G>C | CA375411556 | DBH | c.478G>C (p.Ala160Pro) c.631G>C (p.Ala211Pro) c.442G>C (p.Ala148Pro) | dbSNP gnomAD v4 |