| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31349250del | CA16615293 | NF1 | c.7302del (p.Ala2435LeufsTer15) c.1884del (p.Ala629LeufsTer15) c.1476del (p.Ala493LeufsTer15) n.3965del c.370del c.7350del (p.Ala2451LeufsTer15) c.7320del (p.Ala2441LeufsTer15) c.7257del (p.Ala2420LeufsTer15) c.6255del (p.Ala2086LeufsTer15) c.703del c.7456del (n.7456del) c.463del c.7311del (p.Ala2438LeufsTer15) c.7287del (p.Ala2430LeufsTer15) c.7347del (p.Ala2450LeufsTer15) | ClinVar dbSNP |
| 17 | g.31349250A= | CA3223488246 | NF1 | c.7302A= (p.Ala2434=) c.1884A= (p.Ala628=) c.1476A= (p.Ala492=) n.3965A= c.370A= c.7350A= (p.Ala2450=) c.7320A= (p.Ala2440=) c.7257A= (p.Ala2419=) c.6255A= (p.Ala2085=) c.703A= c.7456A= (n.7456A=) c.463A= c.7311A= (p.Ala2437=) c.7287A= (p.Ala2429=) c.7347A= (p.Ala2449=) | dbSNP dbSNP |