| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.46014472G>C | CA315636848 | MMP9,SLC12A5-AS1 | c.2003G>C (p.Arg668Pro) n.985C>G | dbSNP |
| 20 | g.46014472G>A | CA9886861 | MMP9,SLC12A5-AS1 | c.2003G>A (p.Arg668Gln) n.985C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46014472G= | CA2366480304 | MMP9,SLC12A5-AS1 | c.2003G= (p.Arg668=) n.985C= | dbSNP |