Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.133647906C>T | CA5313310 | DBH | c.1085C>T (p.Ala362Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133647906C>A | CA347644 | DBH | c.1085C>A (p.Ala362Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133647906C= | CA1882779119 | DBH | c.1085C= (p.Ala362=) | dbSNP |