| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112016769C>T | CA6276429 | DIXDC1 | c.1835C>T (p.Thr612Met) n.831C>T c.1202C>T (p.Thr401Met) n.1188C>T c.1832C>T (p.Thr611Met) c.953C>T (p.Thr318Met) c.947C>T (p.Thr316Met) c.1727C>T (p.Thr576Met) c.1724C>T (p.Thr575Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112016769C= | CA2000524066 | DIXDC1 | c.1835C= (p.Thr612=) n.831C= c.1202C= (p.Thr401=) n.1188C= c.1832C= (p.Thr611=) c.953C= (p.Thr318=) c.947C= (p.Thr316=) c.1727C= (p.Thr576=) c.1724C= (p.Thr575=) | dbSNP dbSNP |
| 11 | g.112016769C>G | CA382590383 | DIXDC1 | c.1835C>G (p.Thr612Arg) n.831C>G c.1202C>G (p.Thr401Arg) n.1188C>G c.1832C>G (p.Thr611Arg) c.953C>G (p.Thr318Arg) c.947C>G (p.Thr316Arg) c.1727C>G (p.Thr576Arg) c.1724C>G (p.Thr575Arg) | dbSNP gnomAD v4 |