Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.20189197C>TCA134970GJB2c.385G>A (p.Glu129Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.20189197C>ACA16044153GJB2c.385G>T (p.Glu129Ter)
ClinVar dbSNP

Number of alleles fetched