| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37064854C>T | CA224045 | CPLANE1,NIPBL | c.8377C>T (p.Arg2793Ter) c.*321C>T (n.*321C>T) n.2300C>T c.277C>T (p.Arg93Ter) c.*831C>T (n.*831C>T) c.7633C>T (p.Arg2545Ter) c.8230C>T (p.Arg2744Ter) c.8179C>T (p.Arg2727Ter) c.7996C>T (p.Arg2666Ter) c.7717C>T (p.Arg2573Ter) c.6760C>T (p.Arg2254Ter) c.6751C>T (p.Arg2251Ter) n.11828G>A | ClinVar dbSNP |
| 5 | g.37064854C= | CA1539590751 | CPLANE1,NIPBL | c.8377C= (p.Arg2793=) c.*321C= (n.*321C=) n.2300C= c.277C= (p.Arg93=) c.*831C= (n.*831C=) c.7633C= (p.Arg2545=) c.8230C= (p.Arg2744=) c.8179C= (p.Arg2727=) c.7996C= (p.Arg2666=) c.7717C= (p.Arg2573=) c.6760C= (p.Arg2254=) c.6751C= (p.Arg2251=) n.11828G= | dbSNP |