| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71437914G>A | CA224326679 | DHCR7 | c.861C>T (p.Asn287=) c.687C>T (p.Asn229=) c.912C>T (p.Asn304=) c.897C>T (p.Asn299=) n.901C>T c.276C>T (p.Asn92=) c.765C>T (p.Asn255=) c.228C>T (p.Asn76=) c.111C>T (p.Asn37=) c.217C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71437914G>T | CA6162413 | DHCR7 | c.861C>A (p.Asn287Lys) c.687C>A (p.Asn229Lys) c.912C>A (p.Asn304Lys) c.897C>A (p.Asn299Lys) n.901C>A c.276C>A (p.Asn92Lys) c.765C>A (p.Asn255Lys) c.228C>A (p.Asn76Lys) c.111C>A (p.Asn37Lys) c.217C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |