| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.85328606C>T | CA127304 | CA1 | c.740G>A (p.Arg247His) c.401G>A (p.Arg134His) c.489G>A c.338G>A (p.Arg113His) c.542G>A (p.Arg181His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.85328606C= | CA1799276221 | CA1 | c.740G= (p.Arg247=) c.401G= (p.Arg134=) c.489G= c.338G= (p.Arg113=) c.542G= (p.Arg181=) | dbSNP |