| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31225134G>C | CA399005175 | NF1 | c.1930G>C (p.Gly644Arg) c.1915G>C (p.Gly639Arg) c.1885G>C (p.Gly629Arg) c.883G>C (p.Gly295Arg) n.52G>C c.1660G>C c.1987G>C (p.Gly663Arg) c.1876G>C (p.Gly626Arg) c.1912G>C (p.Gly638Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31225134G>A | CA165914 | NF1 | c.1930G>A (p.Gly644Arg) c.1915G>A (p.Gly639Arg) c.1885G>A (p.Gly629Arg) c.883G>A (p.Gly295Arg) n.52G>A c.1660G>A c.1987G>A (p.Gly663Arg) c.1876G>A (p.Gly626Arg) c.1912G>A (p.Gly638Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.31225134G>T | CA399005177 | NF1 | c.1930G>T (p.Gly644Trp) c.1915G>T (p.Gly639Trp) c.1885G>T (p.Gly629Trp) c.883G>T (p.Gly295Trp) n.52G>T c.1660G>T c.1987G>T (p.Gly663Trp) c.1876G>T (p.Gly626Trp) c.1912G>T (p.Gly638Trp) | dbSNP COSMIC COSMIC |