| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136504916A>G | CA375645052 | NOTCH1 | n.2582T>C c.4775T>C (p.Phe1592Ser) c.4661T>C (p.Phe1554Ser) c.4655T>C (p.Phe1552Ser) c.2372T>C (p.Phe791Ser) c.*2175T>C (n.*2175T>C) c.*2384T>C (n.*2384T>C) n.1588T>C c.*4011T>C (n.*4011T>C) c.4076T>C (p.Phe1359Ser) c.4052T>C (p.Phe1351Ser) | dbSNP COSMIC |
| 9 | g.136504916A>T | CA375645054 | NOTCH1 | n.2582T>A c.4775T>A (p.Phe1592Tyr) c.4661T>A (p.Phe1554Tyr) c.4655T>A (p.Phe1552Tyr) c.2372T>A (p.Phe791Tyr) c.*2175T>A (n.*2175T>A) c.*2384T>A (n.*2384T>A) n.1588T>A c.*4011T>A (n.*4011T>A) c.4076T>A (p.Phe1359Tyr) c.4052T>A (p.Phe1351Tyr) | dbSNP |
| 9 | g.136504916A>C | CA204406 | NOTCH1 | n.2582T>G c.4775T>G (p.Phe1592Cys) c.4661T>G (p.Phe1554Cys) c.4655T>G (p.Phe1552Cys) c.2372T>G (p.Phe791Cys) c.*2175T>G (n.*2175T>G) c.*2384T>G (n.*2384T>G) n.1588T>G c.*4011T>G (n.*4011T>G) c.4076T>G (p.Phe1359Cys) c.4052T>G (p.Phe1351Cys) | ClinVar dbSNP COSMIC |