| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.141524167G>A | CA10576652 | DIAPH1 | c.3637C>T (p.Arg1213Ter) c.43C>T (p.Arg15Ter) n.117C>T c.3505C>T (p.Arg1169Ter) c.3610C>T (p.Arg1204Ter) c.173C>T n.158C>T n.589C>T c.3601C>T (p.Arg1201Ter) c.3571C>T (p.Arg1191Ter) c.3760C>T (p.Arg1254Ter) c.3733C>T (p.Arg1245Ter) c.3724C>T (p.Arg1242Ter) c.3694C>T (p.Arg1232Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.141524167G= | CA1587236747 | DIAPH1 | c.3637C= (p.Arg1213=) c.43C= (p.Arg15=) n.117C= c.3505C= (p.Arg1169=) c.3610C= (p.Arg1204=) c.173C= n.158C= n.589C= c.3601C= (p.Arg1201=) c.3571C= (p.Arg1191=) c.3760C= (p.Arg1254=) c.3733C= (p.Arg1245=) c.3724C= (p.Arg1242=) c.3694C= (p.Arg1232=) | dbSNP |