| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.141528456G>A | CA279568 | DIAPH1 | c.3145C>T (p.Arg1049Ter) c.3013C>T (p.Arg1005Ter) c.3118C>T (p.Arg1040Ter) c.3109C>T (p.Arg1037Ter) c.3079C>T (p.Arg1027Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.141528456G>T | CA446859383 | DIAPH1 | c.3145C>A (p.Arg1049=) c.3013C>A (p.Arg1005=) c.3118C>A (p.Arg1040=) c.3109C>A (p.Arg1037=) c.3079C>A (p.Arg1027=) | ClinVar dbSNP gnomAD v4 |