Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.69599802C>ACA16605888AUTS2c.149C>A (p.Ser50Ter)
ClinVar dbSNP
7g.69599802C>TCA367702947AUTS2c.149C>T (p.Ser50Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.69599802C>GCA4280241AUTS2c.149C>G (p.Ser50Trp)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched