| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27092357G>C | CA346158358 | KHK | c.118G>C (p.Gly40Arg) n.466G>C c.93-4372G>C (n.93-4372G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.27092357G>A | CA121823 | KHK | c.118G>A (p.Gly40Arg) n.466G>A c.93-4372G>A (n.93-4372G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27092357G= | CA1240112965 | KHK | c.118G= (p.Gly40=) n.466G= c.93-4372G= (n.93-4372G=) | dbSNP |