| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37057223A>G | CA267560 | NIPBL | c.7301A>G (p.Asn2434Ser) c.7264-1668A>G (n.7264-1668A>G) n.1183A>G c.1-7355A>G (n.1-7355A>G) c.6557A>G (p.Asn2186Ser) c.7103A>G (p.Asn2368Ser) c.6920A>G (p.Asn2307Ser) c.7264-3621A>G (n.7264-3621A>G) c.6641A>G (p.Asn2214Ser) c.5684A>G (p.Asn1895Ser) c.5675A>G (p.Asn1892Ser) | ClinVar dbSNP |
| 5 | g.37057223A= | CA1539578677 | NIPBL | c.7301A= (p.Asn2434=) c.7264-1668A= (n.7264-1668A=) n.1183A= c.1-7355A= (n.1-7355A=) c.6557A= (p.Asn2186=) c.7103A= (p.Asn2368=) c.6920A= (p.Asn2307=) c.7264-3621A= (n.7264-3621A=) c.6641A= (p.Asn2214=) c.5684A= (p.Asn1895=) c.5675A= (p.Asn1892=) | dbSNP |