Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.15824935C>ACA438435825CD38c.418C>A (p.Arg140=)
c.363+8295C>A (n.363+8295C>A)
c.100C>A (p.Arg34=)
n.521C>A
n.513+8295C>A
n.535C>A
n.450+8295C>A
dbSNP gnomAD v2 gnomAD v4
4g.15824935C>TCA2865735CD38c.418C>T (p.Arg140Trp)
c.363+8295C>T (n.363+8295C>T)
c.100C>T (p.Arg34Trp)
n.521C>T
n.513+8295C>T
n.535C>T
n.450+8295C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched