| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136518172G>A | CA5341882 | NOTCH1 | c.1220C>T (p.Pro407Leu) c.*456C>T (n.*456C>T) c.521C>T (p.Pro174Leu) c.497C>T (p.Pro166Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136518172G>C | CA349836 | NOTCH1 | c.1220C>G (p.Pro407Arg) c.*456C>G (n.*456C>G) c.521C>G (p.Pro174Arg) c.497C>G (p.Pro166Arg) | ClinVar dbSNP gnomAD v4 |