Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.64767829G>TCA390039527SPTBc.6053C>A (p.Ala2018Asp)
n.385C>A
c.2048C>A (p.Ala683Asp)
 ClinVar dbSNP
14g.64767829G>CCA122738SPTBc.6053C>G (p.Ala2018Gly)
n.385C>G
c.2048C>G (p.Ala683Gly)
 ClinVar dbSNP

Number of alleles fetched