| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.9893122C>T | CA432531782 | JAGN1 | c.*250C>T (n.*250C>T) c.297C>T (p.Tyr99=) c.135C>T (p.Tyr45=) | dbSNP gnomAD v4 |
| 3 | g.9893122C>G | CA199737 | JAGN1 | c.*250C>G (n.*250C>G) c.297C>G (p.Tyr99Ter) c.135C>G (p.Tyr45Ter) | ClinVar dbSNP |
| 3 | g.9893122C= | CA1344967076 | JAGN1 | c.*250C= (n.*250C=) c.297C= (p.Tyr99=) c.135C= (p.Tyr45=) | dbSNP |