Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.56004039G>A | CA116469 | SUOX | c.650G>A (p.Arg217Gln) n.535G>A c.268-115G>A (n.268-115G>A) c.671G>A (p.Arg224Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.56004039G= | CA2038197697 | SUOX | c.650G= (p.Arg217=) n.535G= c.268-115G= (n.268-115G=) c.671G= (p.Arg224=) | dbSNP |