| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31258406A>T | CA251459 | NF1 | c.24A>T (p.Arg8Ser) c.4218A>T (p.Arg1406Ser) n.342A>T c.227A>T n.881A>T c.4266A>T (p.Arg1422Ser) n.208A>T c.4236A>T (p.Arg1412Ser) c.4173A>T (p.Arg1391Ser) c.3171A>T (p.Arg1057Ser) c.752A>T c.689A>T n.2709A>T c.4275A>T (p.Arg1425Ser) c.4227A>T (p.Arg1409Ser) c.4203A>T (p.Arg1401Ser) c.4263A>T (p.Arg1421Ser) | ClinVar dbSNP |
| 17 | g.31258406A>C | CA398997843 | NF1 | c.24A>C (p.Arg8Ser) c.4218A>C (p.Arg1406Ser) n.342A>C c.227A>C n.881A>C c.4266A>C (p.Arg1422Ser) n.208A>C c.4236A>C (p.Arg1412Ser) c.4173A>C (p.Arg1391Ser) c.3171A>C (p.Arg1057Ser) c.752A>C c.689A>C n.2709A>C c.4275A>C (p.Arg1425Ser) c.4227A>C (p.Arg1409Ser) c.4203A>C (p.Arg1401Ser) c.4263A>C (p.Arg1421Ser) | ClinVar dbSNP |