| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37052522C>T | CA224038 | NIPBL | c.7219C>T (p.Arg2407Ter) n.1101C>T c.1-12056C>T (n.1-12056C>T) c.6475C>T (p.Arg2159Ter) c.7021C>T (p.Arg2341Ter) c.6838C>T (p.Arg2280Ter) c.6559C>T (p.Arg2187Ter) c.5602C>T (p.Arg1868Ter) c.5593C>T (p.Arg1865Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37052522C= | CA1539572375 | NIPBL | c.7219C= (p.Arg2407=) n.1101C= c.1-12056C= (n.1-12056C=) c.6475C= (p.Arg2159=) c.7021C= (p.Arg2341=) c.6838C= (p.Arg2280=) c.6559C= (p.Arg2187=) c.5602C= (p.Arg1868=) c.5593C= (p.Arg1865=) | dbSNP |