Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.44149992G>ACA126209GCKc.*554C>T (n.*554C>T)
c.556C>T (p.Arg186Ter)
n.1042C>T
c.559C>T (p.Arg187Ter)
c.553C>T (p.Arg185Ter)
c.505C>T (p.Arg169Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44149992G>TCA4239607GCKc.*554C>A (n.*554C>A)
c.556C>A (p.Arg186=)
n.1042C>A
c.559C>A (p.Arg187=)
c.553C>A (p.Arg185=)
c.505C>A (p.Arg169=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched