| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41771742_41771744dup | CA341294 | JUP | c.116_118dup (p.Ser39_Lys40insSer) n.244_246dup c.167_169dup (p.Ser56_Lys57insSer) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771742_41771744del | CA8565579 | JUP | c.116_118del (p.Ser39del) n.244_246del c.167_169del (p.Ser56del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |