Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.53207746G>C | CA16044032 | DCC | c.1790G>C (p.Arg597Pro) c.1591G>C c.1721G>C (p.Arg574Pro) c.755G>C (p.Arg252Pro) | ClinVar dbSNP |
18 | g.53207746G>A | CA402518196 | DCC | c.1790G>A (p.Arg597Gln) c.1591G>A c.1721G>A (p.Arg574Gln) c.755G>A (p.Arg252Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.53207746G= | CA2304037522 | DCC | c.1790G= (p.Arg597=) c.1591G= c.1721G= (p.Arg574=) c.755G= (p.Arg252=) | dbSNP |
18 | g.53207746G>T | CA402518195 | DCC | c.1790G>T (p.Arg597Leu) c.1591G>T c.1721G>T (p.Arg574Leu) c.755G>T (p.Arg252Leu) | dbSNP gnomAD v4 |