| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31230373T>G | CA251455 | NF1 | c.3149T>G (p.Met1050Arg) c.449T>G (p.Met150Arg) c.3134T>G (p.Met1045Arg) c.3104T>G (p.Met1035Arg) c.2102T>G (p.Met701Arg) n.1640T>G c.2879T>G c.3206T>G (p.Met1069Arg) c.3095T>G (p.Met1032Arg) c.3131T>G (p.Met1044Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31230373T>C | CA398987688 | NF1 | c.3149T>C (p.Met1050Thr) c.449T>C (p.Met150Thr) c.3134T>C (p.Met1045Thr) c.3104T>C (p.Met1035Thr) c.2102T>C (p.Met701Thr) n.1640T>C c.2879T>C c.3206T>C (p.Met1069Thr) c.3095T>C (p.Met1032Thr) c.3131T>C (p.Met1044Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31230373T>A | CA398987686 | NF1 | c.3149T>A (p.Met1050Lys) c.449T>A (p.Met150Lys) c.3134T>A (p.Met1045Lys) c.3104T>A (p.Met1035Lys) c.2102T>A (p.Met701Lys) n.1640T>A c.2879T>A c.3206T>A (p.Met1069Lys) c.3095T>A (p.Met1032Lys) c.3131T>A (p.Met1044Lys) | ClinVar dbSNP gnomAD v4 |