| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37014728C>T | CA252125 | NIPBL | c.4606C>T (p.Arg1536Ter) c.1-49850C>T (n.1-49850C>T) c.3862C>T (p.Arg1288Ter) c.4408C>T (p.Arg1470Ter) c.4225C>T (p.Arg1409Ter) c.3946C>T (p.Arg1316Ter) c.2989C>T (p.Arg997Ter) c.2980C>T (p.Arg994Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37014728C= | CA1539614218 | NIPBL | c.4606C= (p.Arg1536=) c.1-49850C= (n.1-49850C=) c.3862C= (p.Arg1288=) c.4408C= (p.Arg1470=) c.4225C= (p.Arg1409=) c.3946C= (p.Arg1316=) c.2989C= (p.Arg997=) c.2980C= (p.Arg994=) | dbSNP |