| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31233116G>T | CA16608393 | NF1 | c.3656G>T (p.Arg1219Leu) c.956G>T (p.Arg319Leu) c.3641G>T (p.Arg1214Leu) n.337G>T c.3611G>T (p.Arg1204Leu) c.2609G>T (p.Arg870Leu) c.87G>T n.2147G>T c.3386G>T c.3713G>T (p.Arg1238Leu) c.3602G>T (p.Arg1201Leu) c.3638G>T (p.Arg1213Leu) | ClinVar dbSNP |
| 17 | g.31233116G>C | CA398990300 | NF1 | c.3656G>C (p.Arg1219Pro) c.956G>C (p.Arg319Pro) c.3641G>C (p.Arg1214Pro) n.337G>C c.3611G>C (p.Arg1204Pro) c.2609G>C (p.Arg870Pro) c.87G>C n.2147G>C c.3386G>C c.3713G>C (p.Arg1238Pro) c.3602G>C (p.Arg1201Pro) c.3638G>C (p.Arg1213Pro) | dbSNP |
| 17 | g.31233116G>A | CA398990298 | NF1 | c.3656G>A (p.Arg1219Gln) c.956G>A (p.Arg319Gln) c.3641G>A (p.Arg1214Gln) n.337G>A c.3611G>A (p.Arg1204Gln) c.2609G>A (p.Arg870Gln) c.87G>A n.2147G>A c.3386G>A c.3713G>A (p.Arg1238Gln) c.3602G>A (p.Arg1201Gln) c.3638G>A (p.Arg1213Gln) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31233116G= | CA2255570599 | NF1 | c.3656G= (p.Arg1219=) c.956G= (p.Arg319=) c.3641G= (p.Arg1214=) n.337G= c.3611G= (p.Arg1204=) c.2609G= (p.Arg870=) c.87G= n.2147G= c.3386G= c.3713G= (p.Arg1238=) c.3602G= (p.Arg1201=) c.3638G= (p.Arg1213=) | dbSNP |