Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.117244053T>G | CA5710220 | SLC18A2 | c.204T>G (p.Thr68=) n.347T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.117244053T>A | CA214675717 | SLC18A2 | c.204T>A (p.Thr68=) n.347T>A | dbSNP |
10 | g.117244053T>C | CA471555363 | SLC18A2 | c.204T>C (p.Thr68=) n.347T>C | dbSNP gnomAD v2 gnomAD v4 |