Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.36663043G>T | CA389466220 | PAX9 | c.151G>T (p.Gly51Cys) c.-411G>T (n.-411G>T) n.453G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.36663043G>A | CA123453 | PAX9 | c.151G>A (p.Gly51Ser) c.-411G>A (n.-411G>A) n.453G>A | ClinVar dbSNP |
14 | g.36663043G= | CA2129502367 | PAX9 | c.151G= (p.Gly51=) c.-411G= (n.-411G=) n.453G= | dbSNP |