| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37016106C>T | CA117025923 | NIPBL | c.4712C>T (p.Ser1571Leu) c.1-48472C>T (n.1-48472C>T) c.3968C>T (p.Ser1323Leu) c.4514C>T (p.Ser1505Leu) c.4331C>T (p.Ser1444Leu) c.4052C>T (p.Ser1351Leu) c.3095C>T (p.Ser1032Leu) c.3086C>T (p.Ser1029Leu) | dbSNP |
| 5 | g.37016106C>A | CA272124 | NIPBL | c.4712C>A (p.Ser1571Ter) c.1-48472C>A (n.1-48472C>A) c.3968C>A (p.Ser1323Ter) c.4514C>A (p.Ser1505Ter) c.4331C>A (p.Ser1444Ter) c.4052C>A (p.Ser1351Ter) c.3095C>A (p.Ser1032Ter) c.3086C>A (p.Ser1029Ter) | ClinVar dbSNP |
| 5 | g.37016106C= | CA1539615714 | NIPBL | c.4712C= (p.Ser1571=) c.1-48472C= (n.1-48472C=) c.3968C= (p.Ser1323=) c.4514C= (p.Ser1505=) c.4331C= (p.Ser1444=) c.4052C= (p.Ser1351=) c.3095C= (p.Ser1032=) c.3086C= (p.Ser1029=) | dbSNP |