| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113397337G>T | CA6280800 | ANKK1 | c.952G>T (p.Gly318Trp) c.982G>T (p.Gly328Trp) c.760G>T (p.Gly254Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113397337G>A | CA6280799 | ANKK1 | c.952G>A (p.Gly318Arg) c.982G>A (p.Gly328Arg) c.760G>A (p.Gly254Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113397337G= | CA2001149925 | ANKK1 | c.952G= (p.Gly318=) c.982G= (p.Gly328=) c.760G= (p.Gly254=) | dbSNP |