Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31219068C>T | CA16042974 | NF1 | c.1636C>T (p.Gln546Ter) c.1036C>T (p.Gln346Ter) c.1621C>T (p.Gln541Ter) c.1591C>T (p.Gln531Ter) c.589C>T (p.Gln197Ter) n.1974C>T c.1366C>T c.1693C>T (p.Gln565Ter) c.1582C>T (p.Gln528Ter) | ClinVar dbSNP |
17 | g.31219068C>A | CA399001947 | NF1 | c.1636C>A (p.Gln546Lys) c.1036C>A (p.Gln346Lys) c.1621C>A (p.Gln541Lys) c.1591C>A (p.Gln531Lys) c.589C>A (p.Gln197Lys) n.1974C>A c.1366C>A c.1693C>A (p.Gln565Lys) c.1582C>A (p.Gln528Lys) | dbSNP |