| 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 |
| 9 | g.136497146G= | CA1884231133 | NOTCH1 | c.6593C= (p.Ser2198=) c.*1633C= (n.*1633C=) n.3189C= n.2925C= c.6479C= (p.Ser2160=) c.6473C= (p.Ser2158=) c.4190C= (p.Ser1397=) c.*3993C= (n.*3993C=) c.*4202C= (n.*4202C=) n.4698C= c.*5829C= (n.*5829C=) c.5894C= (p.Ser1965=) c.5870C= (p.Ser1957=) | dbSNP |
| 9 | g.136497146G>C | CA375631126 | NOTCH1 | c.6593C>G (p.Ser2198Trp) c.*1633C>G (n.*1633C>G) n.3189C>G n.2925C>G c.6479C>G (p.Ser2160Trp) c.6473C>G (p.Ser2158Trp) c.4190C>G (p.Ser1397Trp) c.*3993C>G (n.*3993C>G) c.*4202C>G (n.*4202C>G) n.4698C>G c.*5829C>G (n.*5829C>G) c.5894C>G (p.Ser1965Trp) c.5870C>G (p.Ser1957Trp) | ClinVar dbSNP |