Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31261810G>A | CA114180 | NF1 | c.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 |
17 | g.31261810G>C | CA399000481 | NF1 | c.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 |