| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37002734C>G | CA252123 | NIPBL | c.3737C>G (p.Ala1246Gly) c.1-61844C>G (n.1-61844C>G) c.2993C>G (p.Ala998Gly) c.3539C>G (p.Ala1180Gly) c.3356C>G (p.Ala1119Gly) c.3077C>G (p.Ala1026Gly) c.2120C>G (p.Ala707Gly) c.2111C>G (p.Ala704Gly) | ClinVar dbSNP |
| 5 | g.37002734C= | CA1539603177 | NIPBL | c.3737C= (p.Ala1246=) c.1-61844C= (n.1-61844C=) c.2993C= (p.Ala998=) c.3539C= (p.Ala1180=) c.3356C= (p.Ala1119=) c.3077C= (p.Ala1026=) c.2120C= (p.Ala707=) c.2111C= (p.Ala704=) | dbSNP |