Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71435604C>ACA381701536DHCR7c.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
11g.71435604C>TCA16041545DHCR7c.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

Number of alleles fetched