| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41769480C>T | CA8565505 | JUP | c.406G>A (p.Asp136Asn) c.457G>A (p.Asp153Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769480C>A | CA399505019 | JUP | c.406G>T (p.Asp136Tyr) c.457G>T (p.Asp153Tyr) | ClinVar dbSNP |
| 17 | g.41769480C>G | CA308456 | JUP | c.406G>C (p.Asp136His) c.457G>C (p.Asp153His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |