Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.63406361T>CCA248677ALG6c.391T>C (p.Tyr131His)
c.*120T>C (n.*120T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63406361T=CA1140568658ALG6c.391T= (p.Tyr131=)
c.*120T= (n.*120T=)
dbSNP

Number of alleles fetched