Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31338739C>ACA190957NF1c.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
17g.31338739C>TCA499234341NF1c.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
17g.31338739C>GCA8487442NF1c.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

Number of alleles fetched