| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71443993C>G | CA6162641 | DHCR7 | c.321G>C (p.Gln107His) c.147G>C (p.Gln49His) n.598G>C c.-265G>C (n.-265G>C) c.225G>C (p.Gln75His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71443993C= | CA1981491008 | DHCR7 | c.321G= (p.Gln107=) c.147G= (p.Gln49=) n.598G= c.-265G= (n.-265G=) c.225G= (p.Gln75=) | dbSNP |
| 11 | g.71443993C>T | CA475519971 | DHCR7 | c.321G>A (p.Gln107=) c.147G>A (p.Gln49=) n.598G>A c.-265G>A (n.-265G>A) c.225G>A (p.Gln75=) | dbSNP gnomAD v4 |
| 11 | g.71443993C>A | CA381695854 | DHCR7 | c.321G>T (p.Gln107His) c.147G>T (p.Gln49His) n.598G>T c.-265G>T (n.-265G>T) c.225G>T (p.Gln75His) | dbSNP gnomAD v4 |