Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31338739C>A | CA190957 | NF1 | c.6837C>A (p.Tyr2279Ter) c.1419C>A (p.Tyr473Ter) n.2677C>A c.1011C>A (p.Tyr337Ter) n.3500C>A c.6885C>A (p.Tyr2295Ter) c.6855C>A (p.Tyr2285Ter) c.6792C>A (p.Tyr2264Ter) c.5790C>A (p.Tyr1930Ter) c.238C>A c.6991C>A (n.6991C>A) c.64+859C>A n.269C>A c.6846C>A (p.Tyr2282Ter) c.6822C>A (p.Tyr2274Ter) c.6882C>A (p.Tyr2294Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.31338739C>T | CA499234341 | NF1 | c.6837C>T (p.Tyr2279=) c.1419C>T (p.Tyr473=) n.2677C>T c.1011C>T (p.Tyr337=) n.3500C>T c.6885C>T (p.Tyr2295=) c.6855C>T (p.Tyr2285=) c.6792C>T (p.Tyr2264=) c.5790C>T (p.Tyr1930=) c.238C>T c.6991C>T (n.6991C>T) c.64+859C>T n.269C>T c.6846C>T (p.Tyr2282=) c.6822C>T (p.Tyr2274=) c.6882C>T (p.Tyr2294=) | ClinVar dbSNP gnomAD v4 |
17 | g.31338739C>G | CA8487442 | NF1 | c.6837C>G (p.Tyr2279Ter) c.1419C>G (p.Tyr473Ter) n.2677C>G c.1011C>G (p.Tyr337Ter) n.3500C>G c.6885C>G (p.Tyr2295Ter) c.6855C>G (p.Tyr2285Ter) c.6792C>G (p.Tyr2264Ter) c.5790C>G (p.Tyr1930Ter) c.238C>G c.6991C>G (n.6991C>G) c.64+859C>G n.269C>G c.6846C>G (p.Tyr2282Ter) c.6822C>G (p.Tyr2274Ter) c.6882C>G (p.Tyr2294Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |