Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31233128T>C | CA398990347 | NF1 | c.3668T>C (p.Leu1223Ser) c.968T>C (p.Leu323Ser) c.3653T>C (p.Leu1218Ser) n.349T>C c.3623T>C (p.Leu1208Ser) c.2621T>C (p.Leu874Ser) c.99T>C n.2159T>C c.3398T>C c.3725T>C (p.Leu1242Ser) c.3614T>C (p.Leu1205Ser) c.3650T>C (p.Leu1217Ser) | ClinVar dbSNP |
17 | g.31233128T>A | CA16615224 | NF1 | c.3668T>A (p.Leu1223Ter) c.968T>A (p.Leu323Ter) c.3653T>A (p.Leu1218Ter) n.349T>A c.3623T>A (p.Leu1208Ter) c.2621T>A (p.Leu874Ter) c.99T>A n.2159T>A c.3398T>A c.3725T>A (p.Leu1242Ter) c.3614T>A (p.Leu1205Ter) c.3650T>A (p.Leu1217Ter) | ClinVar dbSNP |
17 | g.31233128T>G | CA398990345 | NF1 | c.3668T>G (p.Leu1223Trp) c.968T>G (p.Leu323Trp) c.3653T>G (p.Leu1218Trp) n.349T>G c.3623T>G (p.Leu1208Trp) c.2621T>G (p.Leu874Trp) c.99T>G n.2159T>G c.3398T>G c.3725T>G (p.Leu1242Trp) c.3614T>G (p.Leu1205Trp) c.3650T>G (p.Leu1217Trp) | ClinVar dbSNP |