| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31340598G>A | CA399015034 | NF1 | c.6997G>A (p.Glu2333Lys) c.1579G>A (p.Glu527Lys) n.4536G>A c.1171G>A (p.Glu391Lys) n.3660G>A c.7045G>A (p.Glu2349Lys) c.7015G>A (p.Glu2339Lys) c.6952G>A (p.Glu2318Lys) c.5950G>A (p.Glu1984Lys) c.398G>A c.7151G>A (n.7151G>A) c.158G>A n.304+15G>A n.429G>A c.7006G>A (p.Glu2336Lys) c.6982G>A (p.Glu2328Lys) c.7042G>A (p.Glu2348Lys) | ClinVar dbSNP |
| 17 | g.31340598G>C | CA399015033 | NF1 | c.6997G>C (p.Glu2333Gln) c.1579G>C (p.Glu527Gln) n.4536G>C c.1171G>C (p.Glu391Gln) n.3660G>C c.7045G>C (p.Glu2349Gln) c.7015G>C (p.Glu2339Gln) c.6952G>C (p.Glu2318Gln) c.5950G>C (p.Glu1984Gln) c.398G>C c.7151G>C (n.7151G>C) c.158G>C n.304+15G>C n.429G>C c.7006G>C (p.Glu2336Gln) c.6982G>C (p.Glu2328Gln) c.7042G>C (p.Glu2348Gln) | dbSNP |
| 17 | g.31340598G>T | CA16615680 | NF1 | c.6997G>T (p.Glu2333Ter) c.1579G>T (p.Glu527Ter) n.4536G>T c.1171G>T (p.Glu391Ter) n.3660G>T c.7045G>T (p.Glu2349Ter) c.7015G>T (p.Glu2339Ter) c.6952G>T (p.Glu2318Ter) c.5950G>T (p.Glu1984Ter) c.398G>T c.7151G>T (n.7151G>T) c.158G>T n.304+15G>T n.429G>T c.7006G>T (p.Glu2336Ter) c.6982G>T (p.Glu2328Ter) c.7042G>T (p.Glu2348Ter) | ClinVar dbSNP |