Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.64767691C>TCA7229744SPTBc.6191G>A (p.Arg2064His)
n.523G>A
c.2186G>A (p.Arg729His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64767691C>GCA122745SPTBc.6191G>C (p.Arg2064Pro)
n.523G>C
c.2186G>C (p.Arg729Pro)
 ClinVar dbSNP

Number of alleles fetched