| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.9893310A>G | CA170770 | JAGN1 | c.*438A>G (n.*438A>G) c.485A>G (p.Gln162Arg) c.479A>G (p.Gln160Arg) c.323A>G (p.Gln108Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.9893310A= | CA1344967159 | JAGN1 | c.*438A= (n.*438A=) c.485A= (p.Gln162=) c.479A= (p.Gln160=) c.323A= (p.Gln108=) | dbSNP |