| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37022382A>G | CA267547 | NIPBL | c.5566A>G (p.Arg1856Gly) c.1-42196A>G (n.1-42196A>G) c.4822A>G (p.Arg1608Gly) c.5368A>G (p.Arg1790Gly) c.5185A>G (p.Arg1729Gly) c.4906A>G (p.Arg1636Gly) c.3949A>G (p.Arg1317Gly) c.3940A>G (p.Arg1314Gly) | ClinVar dbSNP |
| 5 | g.37022382A= | CA1539588166 | NIPBL | c.5566A= (p.Arg1856=) c.1-42196A= (n.1-42196A=) c.4822A= (p.Arg1608=) c.5368A= (p.Arg1790=) c.5185A= (p.Arg1729=) c.4906A= (p.Arg1636=) c.3949A= (p.Arg1317=) c.3940A= (p.Arg1314=) | dbSNP |