| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15192033T>A | CA506078674 | NOTCH3 | c.606A>T (p.Ala202=) c.603A>T (p.Ala201=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192033T>C | CA9263852 | NOTCH3 | c.606A>G (p.Ala202=) c.603A>G (p.Ala201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192033T= | CA2324749963 | NOTCH3 | c.606A= (p.Ala202=) c.603A= (p.Ala201=) | dbSNP |