| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31334879T>C | CA219611 | NF1 | c.2042T>C (n.2042T>C) c.5836T>C (p.Trp1946Arg) c.418T>C (p.Trp140Arg) c.10T>C (p.Trp4Arg) n.2499T>C c.5884T>C (p.Trp1962Arg) c.5854T>C (p.Trp1952Arg) c.5791T>C (p.Trp1931Arg) c.4789T>C (p.Trp1597Arg) c.279T>C c.5990T>C (n.5990T>C) n.1171T>C c.5845T>C (p.Trp1949Arg) c.5821T>C (p.Trp1941Arg) c.5881T>C (p.Trp1961Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31334879T>A | CA399010644 | NF1 | c.2042T>A (n.2042T>A) c.5836T>A (p.Trp1946Arg) c.418T>A (p.Trp140Arg) c.10T>A (p.Trp4Arg) n.2499T>A c.5884T>A (p.Trp1962Arg) c.5854T>A (p.Trp1952Arg) c.5791T>A (p.Trp1931Arg) c.4789T>A (p.Trp1597Arg) c.279T>A c.5990T>A (n.5990T>A) n.1171T>A c.5845T>A (p.Trp1949Arg) c.5821T>A (p.Trp1941Arg) c.5881T>A (p.Trp1961Arg) | ClinVar dbSNP |