| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36976279C>T | CA271967 | NIPBL | c.1372C>T (p.Gln458Ter) n.992C>T c.1-88299C>T (n.1-88299C>T) c.628C>T (p.Gln210Ter) c.712C>T (p.Gln238Ter) | ClinVar dbSNP |
| 5 | g.36976279C= | CA1539569868 | NIPBL | c.1372C= (p.Gln458=) n.992C= c.1-88299C= (n.1-88299C=) c.628C= (p.Gln210=) c.712C= (p.Gln238=) | dbSNP |