| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.77926863C>T | CA129605 | NEXN | c.835C>T (p.Arg279Cys) c.643C>T (p.Arg215Cys) c.534C>T c.793C>T (p.Arg265Cys) n.295C>T c.601C>T (p.Arg201Cys) c.448-2453C>T (n.448-2453C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77926863C>A | CA918741 | NEXN | c.835C>A (p.Arg279Ser) c.643C>A (p.Arg215Ser) c.534C>A c.793C>A (p.Arg265Ser) n.295C>A c.601C>A (p.Arg201Ser) c.448-2453C>A (n.448-2453C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |