| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71437909G>A | CA253946 | DHCR7 | c.866C>T (p.Thr289Ile) c.692C>T (p.Thr231Ile) c.917C>T (p.Thr306Ile) c.902C>T (p.Thr301Ile) n.906C>T c.281C>T (p.Thr94Ile) c.770C>T (p.Thr257Ile) c.233C>T (p.Thr78Ile) c.116C>T (p.Thr39Ile) c.222C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71437909G= | CA1981488048 | DHCR7 | c.866C= (p.Thr289=) c.692C= (p.Thr231=) c.917C= (p.Thr306=) c.902C= (p.Thr301=) n.906C= c.281C= (p.Thr94=) c.770C= (p.Thr257=) c.233C= (p.Thr78=) c.116C= (p.Thr39=) c.222C= | dbSNP |
| 11 | g.71437909G>C | CA381703095 | DHCR7 | c.866C>G (p.Thr289Ser) c.692C>G (p.Thr231Ser) c.917C>G (p.Thr306Ser) c.902C>G (p.Thr301Ser) n.906C>G c.281C>G (p.Thr94Ser) c.770C>G (p.Thr257Ser) c.233C>G (p.Thr78Ser) c.116C>G (p.Thr39Ser) c.222C>G | dbSNP |