Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71435604C>A | CA381701536 | DHCR7 | c.1199G>T (p.Trp400Leu) c.1025G>T (p.Trp342Leu) c.1250G>T (p.Trp417Leu) c.1235G>T (p.Trp412Leu) c.1207G>T (p.Gly403Trp) n.1239G>T c.614G>T (p.Trp205Leu) c.1103G>T (p.Trp368Leu) c.700G>T (p.Gly234Trp) c.449G>T (p.Trp150Leu) c.319+2208G>T c.1333G>T (p.Gly445Trp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435604C>T | CA16041545 | DHCR7 | c.1199G>A (p.Trp400Ter) c.1025G>A (p.Trp342Ter) c.1250G>A (p.Trp417Ter) c.1235G>A (p.Trp412Ter) c.1207G>A (p.Gly403Arg) n.1239G>A c.614G>A (p.Trp205Ter) c.1103G>A (p.Trp368Ter) c.700G>A (p.Gly234Arg) c.449G>A (p.Trp150Ter) c.319+2208G>A c.1333G>A (p.Gly445Arg) | ClinVar dbSNP |