| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229157G>T | CA398984240 | NF1 | c.2587G>T (p.Gly863Trp) c.2572G>T (p.Gly858Trp) c.2542G>T (p.Gly848Trp) c.1540G>T (p.Gly514Trp) n.709G>T c.2317G>T c.2644G>T (p.Gly882Trp) c.2533G>T (p.Gly845Trp) c.2569G>T (p.Gly857Trp) | dbSNP |
| 17 | g.31229157G>C | CA16615616 | NF1 | c.2587G>C (p.Gly863Arg) c.2572G>C (p.Gly858Arg) c.2542G>C (p.Gly848Arg) c.1540G>C (p.Gly514Arg) n.709G>C c.2317G>C c.2644G>C (p.Gly882Arg) c.2533G>C (p.Gly845Arg) c.2569G>C (p.Gly857Arg) | ClinVar dbSNP |
| 17 | g.31229157G>A | CA398984238 | NF1 | c.2587G>A (p.Gly863Arg) c.2572G>A (p.Gly858Arg) c.2542G>A (p.Gly848Arg) c.1540G>A (p.Gly514Arg) n.709G>A c.2317G>A c.2644G>A (p.Gly882Arg) c.2533G>A (p.Gly845Arg) c.2569G>A (p.Gly857Arg) | ClinVar dbSNP |