| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37000513C>T | CA267527 | NIPBL | c.3445C>T (p.Arg1149Ter) c.1-64065C>T (n.1-64065C>T) c.2701C>T (p.Arg901Ter) c.3305-304C>T (n.3305-304C>T) c.3122-304C>T (n.3122-304C>T) c.2785C>T (p.Arg929Ter) c.1828C>T (p.Arg610Ter) c.1819C>T (p.Arg607Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37000513C= | CA1539601032 | NIPBL | c.3445C= (p.Arg1149=) c.1-64065C= (n.1-64065C=) c.2701C= (p.Arg901=) c.3305-304C= (n.3305-304C=) c.3122-304C= (n.3122-304C=) c.2785C= (p.Arg929=) c.1828C= (p.Arg610=) c.1819C= (p.Arg607=) | dbSNP |