| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15179052G>T | CA404508724 | NOTCH3 | c.3691C>A (p.Arg1231Ser) n.527C>A n.169C>A c.3532C>A (p.Arg1178Ser) c.3535C>A (p.Arg1179Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15179052G>A | CA090979 | NOTCH3 | c.3691C>T (p.Arg1231Cys) n.527C>T n.169C>T c.3532C>T (p.Arg1178Cys) c.3535C>T (p.Arg1179Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15179052G>C | CA404508722 | NOTCH3 | c.3691C>G (p.Arg1231Gly) n.527C>G n.169C>G c.3532C>G (p.Arg1178Gly) c.3535C>G (p.Arg1179Gly) | dbSNP |