| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36985569C>T | CA272009 | NIPBL | c.2389C>T (p.Arg797Ter) n.2009C>T c.1-79009C>T (n.1-79009C>T) c.1645C>T (p.Arg549Ter) c.1729C>T (p.Arg577Ter) c.772C>T (p.Arg258Ter) c.1495+9167C>T (n.1495+9167C>T) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.36985569C= | CA1539582075 | NIPBL | c.2389C= (p.Arg797=) n.2009C= c.1-79009C= (n.1-79009C=) c.1645C= (p.Arg549=) c.1729C= (p.Arg577=) c.772C= (p.Arg258=) c.1495+9167C= (n.1495+9167C=) | dbSNP |