| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71438955T>C | CA381703343 | DHCR7 | c.755A>G (p.Asn252Ser) c.581A>G (p.Asn194Ser) c.806A>G (p.Asn269Ser) c.791A>G (p.Asn264Ser) n.795A>G c.170A>G (p.Asn57Ser) c.659A>G (p.Asn220Ser) c.122A>G (p.Asn41Ser) c.5A>G (p.Asn2Ser) n.250A>G c.111A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71438955T>A | CA381703342 | DHCR7 | c.755A>T (p.Asn252Ile) c.581A>T (p.Asn194Ile) c.806A>T (p.Asn269Ile) c.791A>T (p.Asn264Ile) n.795A>T c.170A>T (p.Asn57Ile) c.659A>T (p.Asn220Ile) c.122A>T (p.Asn41Ile) c.5A>T (p.Asn2Ile) n.250A>T c.111A>T | dbSNP |