| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15184323G>A | CA9263344 | NOTCH3 | c.2538C>T (p.Cys846=) c.2407+583C>T (n.2407+583C>T) c.2410+583C>T (n.2410+583C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15184323G= | CA2324746274 | NOTCH3 | c.2538C= (p.Cys846=) c.2407+583C= (n.2407+583C=) c.2410+583C= (n.2410+583C=) | dbSNP |