| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31258488A>G | CA10583501 | NF1 | c.106A>G (p.Lys36Glu) c.4300A>G (p.Lys1434Glu) n.424A>G c.309A>G n.963A>G c.4348A>G (p.Lys1450Glu) n.290A>G c.4318A>G (p.Lys1440Glu) c.4255A>G (p.Lys1419Glu) c.3253A>G (p.Lys1085Glu) c.834A>G c.771A>G n.2791A>G c.4357A>G (p.Lys1453Glu) c.4309A>G (p.Lys1437Glu) c.4285A>G (p.Lys1429Glu) c.4345A>G (p.Lys1449Glu) | ClinVar dbSNP |
| 17 | g.31258488A>C | CA219550 | NF1 | c.106A>C (p.Lys36Gln) c.4300A>C (p.Lys1434Gln) n.424A>C c.309A>C n.963A>C c.4348A>C (p.Lys1450Gln) n.290A>C c.4318A>C (p.Lys1440Gln) c.4255A>C (p.Lys1419Gln) c.3253A>C (p.Lys1085Gln) c.834A>C c.771A>C n.2791A>C c.4357A>C (p.Lys1453Gln) c.4309A>C (p.Lys1437Gln) c.4285A>C (p.Lys1429Gln) c.4345A>C (p.Lys1449Gln) | ClinVar dbSNP |
| 17 | g.31258488A>T | CA398998127 | NF1 | c.106A>T (p.Lys36Ter) c.4300A>T (p.Lys1434Ter) n.424A>T c.309A>T n.963A>T c.4348A>T (p.Lys1450Ter) n.290A>T c.4318A>T (p.Lys1440Ter) c.4255A>T (p.Lys1419Ter) c.3253A>T (p.Lys1085Ter) c.834A>T c.771A>T n.2791A>T c.4357A>T (p.Lys1453Ter) c.4309A>T (p.Lys1437Ter) c.4285A>T (p.Lys1429Ter) c.4345A>T (p.Lys1449Ter) | dbSNP |