Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.3229430G>ACA250439SLC4A11c.1765C>T (p.Arg589Ter)
c.1696C>T (p.Arg566Ter)
c.1636C>T (p.Arg546Ter)
c.1651C>T (p.Arg551Ter)
c.1813C>T (p.Arg605Ter)
c.1894C>T (p.Arg632Ter)
c.1638C>T (p.Cys546=)
n.276C>T
c.2134C>T (p.Arg712Ter)
c.1708C>T (p.Arg570Ter)
c.1732C>T (p.Arg578Ter)
c.2178C>T (p.Cys726=)
n.1863C>T
n.2358C>T
n.2288C>T
c.1780C>T (p.Arg594Ter)
n.2338C>T
n.2323C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3229430G>CCA408087748SLC4A11c.1765C>G (p.Arg589Gly)
c.1696C>G (p.Arg566Gly)
c.1636C>G (p.Arg546Gly)
c.1651C>G (p.Arg551Gly)
c.1813C>G (p.Arg605Gly)
c.1894C>G (p.Arg632Gly)
c.1638C>G (p.Cys546Trp)
n.276C>G
c.2134C>G (p.Arg712Gly)
c.1708C>G (p.Arg570Gly)
c.1732C>G (p.Arg578Gly)
c.2178C>G (p.Cys726Trp)
n.1863C>G
n.2358C>G
n.2288C>G
c.1780C>G (p.Arg594Gly)
n.2338C>G
n.2323C>G
dbSNP

Number of alleles fetched