Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.20189443C>ACA172213GJB2c.139G>T (p.Glu47Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189443C>TCA387461835GJB2c.139G>A (p.Glu47Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched