| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136517851G>T | CA467718217 | NOTCH1 | c.1342C>A (p.Arg448=) c.*578C>A (n.*578C>A) c.643C>A (p.Arg215=) c.619C>A (p.Arg207=) | dbSNP |
| 9 | g.136517851G>A | CA352076 | NOTCH1 | c.1342C>T (p.Arg448Ter) c.*578C>T (n.*578C>T) c.643C>T (p.Arg215Ter) c.619C>T (p.Arg207Ter) | ClinVar dbSNP |
| 9 | g.136517851G>C | CA375563141 | NOTCH1 | c.1342C>G (p.Arg448Gly) c.*578C>G (n.*578C>G) c.643C>G (p.Arg215Gly) c.619C>G (p.Arg207Gly) | dbSNP |