| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10652491C>T | CA16620916 | JAG1 | c.863G>A (p.Trp288Ter) n.232G>A n.729G>A | ClinVar dbSNP |
| 20 | g.10652491C>G | CA408239244 | JAG1 | c.863G>C (p.Trp288Ser) n.232G>C n.729G>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.10652491C= | CA2349885691 | JAG1 | c.863G= (p.Trp288=) n.232G= n.729G= | dbSNP |