| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56831918C>T | CA357850 | NUP93 | c.1162C>T (p.Arg388Trp) c.793C>T (p.Arg265Trp) n.404C>T c.541C>T (p.Arg181Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56831918C>A | CA495599282 | NUP93 | c.1162C>A (p.Arg388=) c.793C>A (p.Arg265=) n.404C>A c.541C>A (p.Arg181=) | dbSNP gnomAD v2 gnomAD v4 |