Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.122742955C>TCA251706BBS12c.1063C>T (p.Arg355Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.122742955C>ACA441120763BBS12c.1063C>A (p.Arg355=)
dbSNP gnomAD v4
4g.122742955C=CA1490417851BBS12c.1063C= (p.Arg355=)
dbSNP

Number of alleles fetched