| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229158G>A | CA219481 | NF1 | c.2588G>A (p.Gly863Glu) c.2573G>A (p.Gly858Glu) c.2543G>A (p.Gly848Glu) c.1541G>A (p.Gly514Glu) n.710G>A c.2318G>A c.2645G>A (p.Gly882Glu) c.2534G>A (p.Gly845Glu) c.2570G>A (p.Gly857Glu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229158G>C | CA398984241 | NF1 | c.2588G>C (p.Gly863Ala) c.2573G>C (p.Gly858Ala) c.2543G>C (p.Gly848Ala) c.1541G>C (p.Gly514Ala) n.710G>C c.2318G>C c.2645G>C (p.Gly882Ala) c.2534G>C (p.Gly845Ala) c.2570G>C (p.Gly857Ala) | dbSNP |
| 17 | g.31229158G>T | CA398984242 | NF1 | c.2588G>T (p.Gly863Val) c.2573G>T (p.Gly858Val) c.2543G>T (p.Gly848Val) c.1541G>T (p.Gly514Val) n.710G>T c.2318G>T c.2645G>T (p.Gly882Val) c.2534G>T (p.Gly845Val) c.2570G>T (p.Gly857Val) | dbSNP COSMIC COSMIC |