| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31357319T>C | CA499340772 | NF1 | c.7902T>C (p.Tyr2634=) c.2484T>C (p.Tyr828=) c.2076T>C (p.Tyr692=) n.4565T>C c.970T>C c.7950T>C (p.Tyr2650=) c.7920T>C (p.Tyr2640=) c.7857T>C (p.Tyr2619=) c.6855T>C (p.Tyr2285=) c.1303T>C n.1516T>C c.8056T>C (n.8056T>C) c.905T>C c.7911T>C (p.Tyr2637=) c.7887T>C (p.Tyr2629=) c.7947T>C (p.Tyr2649=) c.7827T>C (p.Tyr2609=) | dbSNP |
| 17 | g.31357319T>G | CA16615330 | NF1 | c.7902T>G (p.Tyr2634Ter) c.2484T>G (p.Tyr828Ter) c.2076T>G (p.Tyr692Ter) n.4565T>G c.970T>G c.7950T>G (p.Tyr2650Ter) c.7920T>G (p.Tyr2640Ter) c.7857T>G (p.Tyr2619Ter) c.6855T>G (p.Tyr2285Ter) c.1303T>G n.1516T>G c.8056T>G (n.8056T>G) c.905T>G c.7911T>G (p.Tyr2637Ter) c.7887T>G (p.Tyr2629Ter) c.7947T>G (p.Tyr2649Ter) c.7827T>G (p.Tyr2609Ter) | ClinVar dbSNP |
| 17 | g.31357319T>A | CA399203459 | NF1 | c.7902T>A (p.Tyr2634Ter) c.2484T>A (p.Tyr828Ter) c.2076T>A (p.Tyr692Ter) n.4565T>A c.970T>A c.7950T>A (p.Tyr2650Ter) c.7920T>A (p.Tyr2640Ter) c.7857T>A (p.Tyr2619Ter) c.6855T>A (p.Tyr2285Ter) c.1303T>A n.1516T>A c.8056T>A (n.8056T>A) c.905T>A c.7911T>A (p.Tyr2637Ter) c.7887T>A (p.Tyr2629Ter) c.7947T>A (p.Tyr2649Ter) c.7827T>A (p.Tyr2609Ter) | dbSNP |
| 17 | g.31357319T= | CA2255612034 | NF1 | c.7902T= (p.Tyr2634=) c.2484T= (p.Tyr828=) c.2076T= (p.Tyr692=) n.4565T= c.970T= c.7950T= (p.Tyr2650=) c.7920T= (p.Tyr2640=) c.7857T= (p.Tyr2619=) c.6855T= (p.Tyr2285=) c.1303T= n.1516T= c.8056T= (n.8056T=) c.905T= c.7911T= (p.Tyr2637=) c.7887T= (p.Tyr2629=) c.7947T= (p.Tyr2649=) c.7827T= (p.Tyr2609=) | dbSNP |