| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15179220G>A | CA9263060 | NOTCH3 | c.3523C>T (p.Arg1175Trp) n.359C>T n.1C>T c.3364C>T (p.Arg1122Trp) c.3367C>T (p.Arg1123Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15179220G>C | CA404511212 | NOTCH3 | c.3523C>G (p.Arg1175Gly) n.359C>G n.1C>G c.3364C>G (p.Arg1122Gly) c.3367C>G (p.Arg1123Gly) | dbSNP |
| 19 | g.15179220G>T | CA506077931 | NOTCH3 | c.3523C>A (p.Arg1175=) n.359C>A n.1C>A c.3364C>A (p.Arg1122=) c.3367C>A (p.Arg1123=) | dbSNP |