| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31261731del | CA16615646 | NF1 | c.400del (p.Asp134ThrfsTer4) c.4580del (p.Arg1527AsnfsTer?) n.704del c.589del n.1243del c.4628del (p.Arg1543AsnfsTer?) c.4598del (p.Arg1533AsnfsTer?) c.4535del (p.Arg1512AsnfsTer?) c.3533del (p.Arg1178AsnfsTer?) c.1114del c.1051del n.3071del c.4637del (p.Arg1546AsnfsTer?) c.4589del (p.Arg1530AsnfsTer?) c.4565del (p.Arg1522AsnfsTer?) c.4625del (p.Arg1542AsnfsTer?) | ClinVar dbSNP |
| 17 | g.31261731G= | CA3223488279 | NF1 | c.400G= (p.Asp134=) c.4580G= (p.Arg1527=) n.704G= c.589G= n.1243G= c.4628G= (p.Arg1543=) c.4598G= (p.Arg1533=) c.4535G= (p.Arg1512=) c.3533G= (p.Arg1178=) c.1114G= c.1051G= n.3071G= c.4637G= (p.Arg1546=) c.4589G= (p.Arg1530=) c.4565G= (p.Arg1522=) c.4625G= (p.Arg1542=) | dbSNP dbSNP |