| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36985891del | CA272030 | NIPBL | c.2711del (p.Arg904AsnfsTer25) n.2331del c.1-78687del (n.1-78687del) c.1967del (p.Arg656AsnfsTer25) c.2051del (p.Arg684AsnfsTer25) c.1094del (p.Arg365AsnfsTer25) c.1495+9489del (n.1495+9489del) | ClinVar dbSNP |
| 5 | g.36985891G= | CA3123573781 | NIPBL | c.2711G= (p.Arg904=) n.2331G= c.1-78687G= (n.1-78687G=) c.1967G= (p.Arg656=) c.2051G= (p.Arg684=) c.1094G= (p.Arg365=) c.1495+9489G= (n.1495+9489G=) | dbSNP dbSNP |