| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136497146G>T | CA375631127 | NOTCH1 | c.6593C>A (p.Ser2198Ter) c.*1633C>A (n.*1633C>A) n.3189C>A n.2925C>A c.6479C>A (p.Ser2160Ter) c.6473C>A (p.Ser2158Ter) c.4190C>A (p.Ser1397Ter) c.*3993C>A (n.*3993C>A) c.*4202C>A (n.*4202C>A) n.4698C>A c.*5829C>A (n.*5829C>A) c.5894C>A (p.Ser1965Ter) c.5870C>A (p.Ser1957Ter) | ClinVar dbSNP |
| 9 | g.136497146G>A | CA5339864 | NOTCH1 | c.6593C>T (p.Ser2198Leu) c.*1633C>T (n.*1633C>T) n.3189C>T n.2925C>T c.6479C>T (p.Ser2160Leu) c.6473C>T (p.Ser2158Leu) c.4190C>T (p.Ser1397Leu) c.*3993C>T (n.*3993C>T) c.*4202C>T (n.*4202C>T) n.4698C>T c.*5829C>T (n.*5829C>T) c.5894C>T (p.Ser1965Leu) c.5870C>T (p.Ser1957Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |