| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37049239C>G | CA267557 | NIPBL | c.6892C>G (p.Arg2298Gly) c.1-15339C>G (n.1-15339C>G) c.6148C>G (p.Arg2050Gly) c.6694C>G (p.Arg2232Gly) c.6511C>G (p.Arg2171Gly) c.6232C>G (p.Arg2078Gly) c.5275C>G (p.Arg1759Gly) c.5266C>G (p.Arg1756Gly) | ClinVar dbSNP |
| 5 | g.37049239C>T | CA272264 | NIPBL | c.6892C>T (p.Arg2298Cys) c.1-15339C>T (n.1-15339C>T) c.6148C>T (p.Arg2050Cys) c.6694C>T (p.Arg2232Cys) c.6511C>T (p.Arg2171Cys) c.6232C>T (p.Arg2078Cys) c.5275C>T (p.Arg1759Cys) c.5266C>T (p.Arg1756Cys) | ClinVar dbSNP COSMIC COSMIC |