| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133639992A>G | CA347632 | DBH | c.334-2215A>G (n.334-2215A>G) c.486A>G (p.Glu162=) c.298-2215A>G (n.298-2215A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133639992A>C | CA375410080 | DBH | c.334-2215A>C (n.334-2215A>C) c.486A>C (p.Glu162Asp) c.298-2215A>C (n.298-2215A>C) | dbSNP gnomAD v4 |
| 9 | g.133639992A= | CA1630848054 | DBH | c.334-2215A= (n.334-2215A=) c.486A= (p.Glu162=) c.298-2215A= (n.298-2215A=) | dbSNP |