| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31232083C>A | CA398988584 | NF1 | c.3253C>A (p.Gln1085Lys) c.553C>A (p.Gln185Lys) c.3238C>A (p.Gln1080Lys) c.3208C>A (p.Gln1070Lys) c.2206C>A (p.Gln736Lys) n.1744C>A c.2983C>A c.3310C>A (p.Gln1104Lys) c.3199C>A (p.Gln1067Lys) c.3235C>A (p.Gln1079Lys) | dbSNP gnomAD v4 |
| 17 | g.31232083C>T | CA191414 | NF1 | c.3253C>T (p.Gln1085Ter) c.553C>T (p.Gln185Ter) c.3238C>T (p.Gln1080Ter) c.3208C>T (p.Gln1070Ter) c.2206C>T (p.Gln736Ter) n.1744C>T c.2983C>T c.3310C>T (p.Gln1104Ter) c.3199C>T (p.Gln1067Ter) c.3235C>T (p.Gln1079Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.31232083C>G | CA398988587 | NF1 | c.3253C>G (p.Gln1085Glu) c.553C>G (p.Gln185Glu) c.3238C>G (p.Gln1080Glu) c.3208C>G (p.Gln1070Glu) c.2206C>G (p.Gln736Glu) n.1744C>G c.2983C>G c.3310C>G (p.Gln1104Glu) c.3199C>G (p.Gln1067Glu) c.3235C>G (p.Gln1079Glu) | dbSNP |