| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31260496C>T | CA16615644 | NF1 | c.346C>T (p.Gln116Ter) c.4540C>T (p.Gln1514Ter) n.664C>T c.549C>T n.1203C>T c.4588C>T (p.Gln1530Ter) n.1769C>T c.4558C>T (p.Gln1520Ter) c.4495C>T (p.Gln1499Ter) c.3493C>T (p.Gln1165Ter) c.1074C>T c.1011C>T n.3031C>T c.4597C>T (p.Gln1533Ter) c.4549C>T (p.Gln1517Ter) c.4525C>T (p.Gln1509Ter) c.4585C>T (p.Gln1529Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31260496C>G | CA398999876 | NF1 | c.346C>G (p.Gln116Glu) c.4540C>G (p.Gln1514Glu) n.664C>G c.549C>G n.1203C>G c.4588C>G (p.Gln1530Glu) n.1769C>G c.4558C>G (p.Gln1520Glu) c.4495C>G (p.Gln1499Glu) c.3493C>G (p.Gln1165Glu) c.1074C>G c.1011C>G n.3031C>G c.4597C>G (p.Gln1533Glu) c.4549C>G (p.Gln1517Glu) c.4525C>G (p.Gln1509Glu) c.4585C>G (p.Gln1529Glu) | dbSNP |
| 17 | g.31260496C= | CA2255576469 | NF1 | c.346C= (p.Gln116=) c.4540C= (p.Gln1514=) n.664C= c.549C= n.1203C= c.4588C= (p.Gln1530=) n.1769C= c.4558C= (p.Gln1520=) c.4495C= (p.Gln1499=) c.3493C= (p.Gln1165=) c.1074C= c.1011C= n.3031C= c.4597C= (p.Gln1533=) c.4549C= (p.Gln1517=) c.4525C= (p.Gln1509=) c.4585C= (p.Gln1529=) | dbSNP |