Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574336C>GCA329057259SYN1c.1648G>C (p.Ala550Pro)
c.70+352G>C (n.70+352G>C)
dbSNP gnomAD v4
Xg.47574336C>TCA130887SYN1c.1648G>A (p.Ala550Thr)
c.70+352G>A (n.70+352G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched