| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31163208T>A | CA398981672 | NF1 | c.311T>A (p.Leu104Ter) c.-3T>A (n.-3T>A) n.694T>A c.110T>A (p.Leu37Ter) n.52T>A c.193T>A c.413T>A (p.Leu138Ter) c.272T>A (p.Leu91Ter) | dbSNP |
| 17 | g.31163208T>C | CA398981673 | NF1 | c.311T>C (p.Leu104Ser) c.-3T>C (n.-3T>C) n.694T>C c.110T>C (p.Leu37Ser) n.52T>C c.193T>C c.413T>C (p.Leu138Ser) c.272T>C (p.Leu91Ser) | dbSNP COSMIC COSMIC |
| 17 | g.31163208T>G | CA16607194 | NF1 | c.311T>G (p.Leu104Ter) c.-3T>G (n.-3T>G) n.694T>G c.110T>G (p.Leu37Ter) n.52T>G c.193T>G c.413T>G (p.Leu138Ter) c.272T>G (p.Leu91Ter) | ClinVar dbSNP |