| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15174125C>G | CA9262873 | NOTCH3 | c.4679G>C (p.Arg1560Pro) c.4523G>C (p.Arg1508Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15174125C>T | CA9262874 | NOTCH3 | c.4679G>A (p.Arg1560Gln) c.4523G>A (p.Arg1508Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |