| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15160960G>T | CA404487004 | NOTCH3 | c.6668C>A (p.Ala2223Glu) c.6512C>A (p.Ala2171Glu) | dbSNP |
| 19 | g.15160960G>C | CA404487003 | NOTCH3 | c.6668C>G (p.Ala2223Gly) c.6512C>G (p.Ala2171Gly) | dbSNP gnomAD v4 |
| 19 | g.15160960G>A | CA9262326 | NOTCH3 | c.6668C>T (p.Ala2223Val) c.6512C>T (p.Ala2171Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |