| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41769418C>T | CA10575789 | JUP | c.468G>A (p.Pro156=) c.519G>A (p.Pro173=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769418C>A | CA500207561 | JUP | c.468G>T (p.Pro156=) c.519G>T (p.Pro173=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769418C= | CA2260176126 | JUP | c.468G= (p.Pro156=) c.519G= (p.Pro173=) | dbSNP |