| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10641688C>T | CA16616454 | JAG1 | c.2688G>A (p.Trp896Ter) n.3277G>A n.2554G>A | ClinVar dbSNP |
| 20 | g.10641688C>G | CA408245185 | JAG1 | c.2688G>C (p.Trp896Cys) n.3277G>C n.2554G>C | dbSNP |
| 20 | g.10641688C= | CA2349880958 | JAG1 | c.2688G= (p.Trp896=) n.3277G= n.2554G= | dbSNP |