Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26474532G>ACA1563614OTOFc.3269C>T (p.Ala1090Val)
c.1028C>T (p.Ala343Val)
c.1199C>T (p.Ala400Val)
c.3314C>T (p.Ala1105Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26474532G>TCA345115OTOFc.3269C>A (p.Ala1090Glu)
c.1028C>A (p.Ala343Glu)
c.1199C>A (p.Ala400Glu)
c.3314C>A (p.Ala1105Glu)
ClinVar dbSNP gnomAD v4

Number of alleles fetched