Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71611527C>ACA347228514DYSFc.1536C>A (p.Ser512Arg)
c.753C>A (p.Ser251Arg)
c.711C>A (p.Ser237Arg)
c.4068C>A (p.Ser1356Arg)
c.4122C>A (p.Ser1374Arg)
c.4071C>A (p.Ser1357Arg)
c.4119C>A (p.Ser1373Arg)
c.4164C>A (p.Ser1388Arg)
c.4029C>A (p.Ser1343Arg)
c.4161C>A (p.Ser1387Arg)
n.304C>A
n.452C>A
n.953C>A
n.287C>A
n.366C>A
c.4026C>A (p.Ser1342Arg)
n.4322C>A
dbSNP
2g.71611527C>TCA147757DYSFc.1536C>T (p.Ser512=)
c.753C>T (p.Ser251=)
c.711C>T (p.Ser237=)
c.4068C>T (p.Ser1356=)
c.4122C>T (p.Ser1374=)
c.4071C>T (p.Ser1357=)
c.4119C>T (p.Ser1373=)
c.4164C>T (p.Ser1388=)
c.4029C>T (p.Ser1343=)
c.4161C>T (p.Ser1387=)
n.304C>T
n.452C>T
n.953C>T
n.287C>T
n.366C>T
c.4026C>T (p.Ser1342=)
n.4322C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched