| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37045577G>T | CA272230 | NIPBL | c.6478G>T (p.Asp2160Tyr) c.1-19001G>T (n.1-19001G>T) c.5734G>T (p.Asp1912Tyr) c.6280G>T (p.Asp2094Tyr) c.6097G>T (p.Asp2033Tyr) c.5818G>T (p.Asp1940Tyr) c.4861G>T (p.Asp1621Tyr) c.4852G>T (p.Asp1618Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045577G= | CA1539618591 | NIPBL | c.6478G= (p.Asp2160=) c.1-19001G= (n.1-19001G=) c.5734G= (p.Asp1912=) c.6280G= (p.Asp2094=) c.6097G= (p.Asp2033=) c.5818G= (p.Asp1940=) c.4861G= (p.Asp1621=) c.4852G= (p.Asp1618=) | dbSNP |