| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435748C>T | CA253952 | DHCR7 | c.1055G>A (p.Arg352Gln) c.881G>A (p.Arg294Gln) c.1106G>A (p.Arg369Gln) c.1091G>A (p.Arg364Gln) c.1063G>A (p.Gly355Arg) n.1095G>A c.470G>A (p.Arg157Gln) c.959G>A (p.Arg320Gln) c.556G>A (p.Gly186Arg) c.305G>A (p.Arg102Gln) c.319+2064G>A c.1189G>A (p.Gly397Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435748C>A | CA6162327 | DHCR7 | c.1055G>T (p.Arg352Leu) c.881G>T (p.Arg294Leu) c.1106G>T (p.Arg369Leu) c.1091G>T (p.Arg364Leu) c.1063G>T (p.Gly355Trp) n.1095G>T c.470G>T (p.Arg157Leu) c.959G>T (p.Arg320Leu) c.556G>T (p.Gly186Trp) c.305G>T (p.Arg102Leu) c.319+2064G>T c.1189G>T (p.Gly397Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |