| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31235665C>T | CA16615194 | NF1 | c.3808C>T (p.Gln1270Ter) c.1108C>T (p.Gln370Ter) n.471C>T c.3793C>T (p.Gln1265Ter) c.3763C>T (p.Gln1255Ter) c.2761C>T (p.Gln921Ter) c.239C>T n.2299C>T c.3538C>T c.3865C>T (p.Gln1289Ter) c.3754C>T (p.Gln1252Ter) c.3790C>T (p.Gln1264Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31235665C= | CA2255572905 | NF1 | c.3808C= (p.Gln1270=) c.1108C= (p.Gln370=) n.471C= c.3793C= (p.Gln1265=) c.3763C= (p.Gln1255=) c.2761C= (p.Gln921=) c.239C= n.2299C= c.3538C= c.3865C= (p.Gln1289=) c.3754C= (p.Gln1252=) c.3790C= (p.Gln1264=) | dbSNP |
| 17 | g.31235665C>G | CA398992510 | NF1 | c.3808C>G (p.Gln1270Glu) c.1108C>G (p.Gln370Glu) n.471C>G c.3793C>G (p.Gln1265Glu) c.3763C>G (p.Gln1255Glu) c.2761C>G (p.Gln921Glu) c.239C>G n.2299C>G c.3538C>G c.3865C>G (p.Gln1289Glu) c.3754C>G (p.Gln1252Glu) c.3790C>G (p.Gln1264Glu) | ClinVar dbSNP |