| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37057249C>T | CA267563 | NIPBL | c.7327C>T (p.Gln2443Ter) c.7264-1642C>T (n.7264-1642C>T) n.1209C>T c.1-7329C>T (n.1-7329C>T) c.6583C>T (p.Gln2195Ter) c.7129C>T (p.Gln2377Ter) c.6946C>T (p.Gln2316Ter) c.7264-3595C>T (n.7264-3595C>T) c.6667C>T (p.Gln2223Ter) c.5710C>T (p.Gln1904Ter) c.5701C>T (p.Gln1901Ter) | ClinVar dbSNP |
| 5 | g.37057249C= | CA1539578730 | NIPBL | c.7327C= (p.Gln2443=) c.7264-1642C= (n.7264-1642C=) n.1209C= c.1-7329C= (n.1-7329C=) c.6583C= (p.Gln2195=) c.7129C= (p.Gln2377=) c.6946C= (p.Gln2316=) c.7264-3595C= (n.7264-3595C=) c.6667C= (p.Gln2223=) c.5710C= (p.Gln1904=) c.5701C= (p.Gln1901=) | dbSNP |