| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37022272G>A | CA267544 | NIPBL | c.5456G>A (p.Arg1819Gln) c.1-42306G>A (n.1-42306G>A) c.4712G>A (p.Arg1571Gln) c.5258G>A (p.Arg1753Gln) c.5075G>A (p.Arg1692Gln) c.4796G>A (p.Arg1599Gln) c.3839G>A (p.Arg1280Gln) c.3830G>A (p.Arg1277Gln) | ClinVar dbSNP |
| 5 | g.37022272G= | CA1539587941 | NIPBL | c.5456G= (p.Arg1819=) c.1-42306G= (n.1-42306G=) c.4712G= (p.Arg1571=) c.5258G= (p.Arg1753=) c.5075G= (p.Arg1692=) c.4796G= (p.Arg1599=) c.3839G= (p.Arg1280=) c.3830G= (p.Arg1277=) | dbSNP |