| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.141573518G>A | CA210348 | DIAPH1 | c.2332C>T (p.Gln778Ter) c.2200C>T (p.Gln734Ter) c.2305C>T (p.Gln769Ter) c.2296C>T (p.Gln766Ter) c.2266C>T (p.Gln756Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.141573518G= | CA1587246823 | DIAPH1 | c.2332C= (p.Gln778=) c.2200C= (p.Gln734=) c.2305C= (p.Gln769=) c.2296C= (p.Gln766=) c.2266C= (p.Gln756=) | dbSNP |