| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41755893T>G | CA399490809 | JUP | c.2089A>C (p.Met697Leu) c.2140A>C (p.Met714Leu) | dbSNP gnomAD v4 |
| 17 | g.41755893T>C | CA399490807 | JUP | c.2089A>G (p.Met697Val) c.2140A>G (p.Met714Val) | dbSNP gnomAD v4 |
| 17 | g.41755893T>A | CA137178 | JUP | c.2089A>T (p.Met697Leu) c.2140A>T (p.Met714Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755893T= | CA2260169491 | JUP | c.2089A= (p.Met697=) c.2140A= (p.Met714=) | dbSNP |