| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219425734C>T | CA217043 | DES | n.834C>T n.748C>T c.1360C>T (p.Arg454Trp) n.215C>T c.1357C>T (p.Arg453Trp) c.928C>T (p.Arg310Trp) c.1291C>T (p.Arg431Trp) c.1339C>T (p.Arg447Trp) c.1090C>T (p.Arg364Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.219425734C= | CA1329213136 | DES | n.834C= n.748C= c.1360C= (p.Arg454=) n.215C= c.1357C= (p.Arg453=) c.928C= (p.Arg310=) c.1291C= (p.Arg431=) c.1339C= (p.Arg447=) c.1090C= (p.Arg364=) | dbSNP |
| 2 | g.219425734C>A | CA431285602 | DES | n.834C>A n.748C>A c.1360C>A (p.Arg454=) n.215C>A c.1357C>A (p.Arg453=) c.928C>A (p.Arg310=) c.1291C>A (p.Arg431=) c.1339C>A (p.Arg447=) c.1090C>A (p.Arg364=) | ClinVar dbSNP |