| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435377A>G | CA274163 | DHCR7 | c.1426T>C (p.Ter476Gln) c.1252T>C (p.Ter418Gln) c.1477T>C (p.Ter493Gln) c.1462T>C (p.Ter488Gln) c.*189T>C (n.*189T>C) n.1466T>C c.841T>C (p.Ter281Gln) c.1330T>C (p.Ter444Gln) c.927T>C (n.927T>C) c.611+65T>C (n.611+65T>C) c.319+2435T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71435377A>T | CA381700381 | DHCR7 | c.1426T>A (p.Ter476Lys) c.1252T>A (p.Ter418Lys) c.1477T>A (p.Ter493Lys) c.1462T>A (p.Ter488Lys) c.*189T>A (n.*189T>A) n.1466T>A c.841T>A (p.Ter281Lys) c.1330T>A (p.Ter444Lys) c.927T>A (n.927T>A) c.611+65T>A (n.611+65T>A) c.319+2435T>A | ClinVar dbSNP |