Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.117837146G>ACA252315EXT1n.485C>T
c.1018C>T (p.Arg340Cys)
c.386C>T
c.74-1595C>T (n.74-1595C>T)
ClinVar dbSNP gnomAD v4
8g.117837146G>CCA371893289EXT1n.485C>G
c.1018C>G (p.Arg340Gly)
c.386C>G
c.74-1595C>G (n.74-1595C>G)
ClinVar dbSNP

Number of alleles fetched