| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37020615C>T | CA252120 | NIPBL | c.5167C>T (p.Arg1723Ter) c.1-43963C>T (n.1-43963C>T) c.4423C>T (p.Arg1475Ter) c.4969C>T (p.Arg1657Ter) c.4786C>T (p.Arg1596Ter) c.4507C>T (p.Arg1503Ter) c.3550C>T (p.Arg1184Ter) c.3541C>T (p.Arg1181Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37020615C= | CA1539619268 | NIPBL | c.5167C= (p.Arg1723=) c.1-43963C= (n.1-43963C=) c.4423C= (p.Arg1475=) c.4969C= (p.Arg1657=) c.4786C= (p.Arg1596=) c.4507C= (p.Arg1503=) c.3550C= (p.Arg1184=) c.3541C= (p.Arg1181=) | dbSNP |