Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.7070184C>TCA127067C1Sn.4336C>T
n.2117C>T
n.3676C>T
n.4979C>T
n.3426C>T
n.3535C>T
c.1600C>T (p.Arg534Trp)
c.1099C>T (p.Arg367Trp)
c.1704C>T
n.776C>T
c.1582C>T (p.Arg528Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7070184C>GCA383705424C1Sn.4336C>G
n.2117C>G
n.3676C>G
n.4979C>G
n.3426C>G
n.3535C>G
c.1600C>G (p.Arg534Gly)
c.1099C>G (p.Arg367Gly)
c.1704C>G
n.776C>G
c.1582C>G (p.Arg528Gly)
dbSNP

Number of alleles fetched