Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26476014G>ACA1563731OTOFc.2891C>T (p.Ala964Val)
c.650C>T (p.Ala217Val)
c.821C>T (p.Ala274Val)
n.2936C>T (p.Ala979Val)
n.2891C>T (p.Ala964Val)
dbSNP ExAC gnomAD
2g.26476014G>TCA345110OTOFc.2891C>A (p.Ala964Glu)
c.650C>A (p.Ala217Glu)
c.821C>A (p.Ala274Glu)
n.2936C>A (p.Ala979Glu)
n.2891C>A (p.Ala964Glu)
ClinVar dbSNP
2g.26476014G>CCA1563732OTOFc.2891C>G (p.Ala964Gly)
c.650C>G (p.Ala217Gly)
c.821C>G (p.Ala274Gly)
n.2936C>G (p.Ala979Gly)
n.2891C>G (p.Ala964Gly)
dbSNP ExAC gnomAD

Number of alleles fetched