| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.80591684G>A | CA7692245 | ARNT2 | c.2035G>A (p.Gly679Ser) c.2002G>A (p.Gly668Ser) c.*333G>A (n.*333G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80591684G>T | CA393625372 | ARNT2 | c.2035G>T (p.Gly679Cys) c.2002G>T (p.Gly668Cys) c.*333G>T (n.*333G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |