| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36985680C>T | CA272024 | NIPBL | c.2500C>T (p.Arg834Ter) n.2120C>T c.1-78898C>T (n.1-78898C>T) c.1756C>T (p.Arg586Ter) c.1840C>T (p.Arg614Ter) c.883C>T (p.Arg295Ter) c.1495+9278C>T (n.1495+9278C>T) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.36985680C= | CA1539582371 | NIPBL | c.2500C= (p.Arg834=) n.2120C= c.1-78898C= (n.1-78898C=) c.1756C= (p.Arg586=) c.1840C= (p.Arg614=) c.883C= (p.Arg295=) c.1495+9278C= (n.1495+9278C=) | dbSNP |
| 5 | g.36985680C>A | CA444095961 | NIPBL | c.2500C>A (p.Arg834=) n.2120C>A c.1-78898C>A (n.1-78898C>A) c.1756C>A (p.Arg586=) c.1840C>A (p.Arg614=) c.883C>A (p.Arg295=) c.1495+9278C>A (n.1495+9278C>A) | dbSNP gnomAD v4 |