Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31261810G>ACA114180NF1c.479G>A (p.Gly160Asp)
c.4659G>A (p.Trp1553Ter)
n.783G>A
c.668G>A
n.1322G>A
c.4707G>A (p.Trp1569Ter)
c.4677G>A (p.Trp1559Ter)
c.4614G>A (p.Trp1538Ter)
c.3612G>A (p.Trp1204Ter)
n.3150G>A
c.4716G>A (p.Trp1572Ter)
c.4668G>A (p.Trp1556Ter)
c.4644G>A (p.Trp1548Ter)
c.4704G>A (p.Trp1568Ter)
ClinVar dbSNP gnomAD v4
17g.31261810G>CCA399000481NF1c.479G>C (p.Gly160Ala)
c.4659G>C (p.Trp1553Cys)
n.783G>C
c.668G>C
n.1322G>C
c.4707G>C (p.Trp1569Cys)
c.4677G>C (p.Trp1559Cys)
c.4614G>C (p.Trp1538Cys)
c.3612G>C (p.Trp1204Cys)
n.3150G>C
c.4716G>C (p.Trp1572Cys)
c.4668G>C (p.Trp1556Cys)
c.4644G>C (p.Trp1548Cys)
c.4704G>C (p.Trp1568Cys)
dbSNP

Number of alleles fetched