| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36985669C>G | CA272018 | NIPBL | c.2489C>G (p.Ser830Ter) n.2109C>G c.1-78909C>G (n.1-78909C>G) c.1745C>G (p.Ser582Ter) c.1829C>G (p.Ser610Ter) c.872C>G (p.Ser291Ter) c.1495+9267C>G (n.1495+9267C>G) | ClinVar dbSNP |
| 5 | g.36985669C>T | CA3236180 | NIPBL | c.2489C>T (p.Ser830Leu) n.2109C>T c.1-78909C>T (n.1-78909C>T) c.1745C>T (p.Ser582Leu) c.1829C>T (p.Ser610Leu) c.872C>T (p.Ser291Leu) c.1495+9267C>T (n.1495+9267C>T) | dbSNP ExAC gnomAD v2 |
| 5 | g.36985669C= | CA1539582357 | NIPBL | c.2489C= (p.Ser830=) n.2109C= c.1-78909C= (n.1-78909C=) c.1745C= (p.Ser582=) c.1829C= (p.Ser610=) c.872C= (p.Ser291=) c.1495+9267C= (n.1495+9267C=) | dbSNP |