Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71553110G>CCA277611DYSFc.1852G>C (p.Gly618Arg)
c.1906G>C (p.Gly636Arg)
c.1855G>C (p.Gly619Arg)
c.1903G>C (p.Gly635Arg)
c.1948G>C (p.Gly650Arg)
c.1813G>C (p.Gly605Arg)
c.1945G>C (p.Gly649Arg)
c.1810G>C (p.Gly604Arg)
n.2106G>C
ClinVar dbSNP
2g.71553110G>ACA241938DYSFc.1852G>A (p.Gly618Arg)
c.1906G>A (p.Gly636Arg)
c.1855G>A (p.Gly619Arg)
c.1903G>A (p.Gly635Arg)
c.1948G>A (p.Gly650Arg)
c.1813G>A (p.Gly605Arg)
c.1945G>A (p.Gly649Arg)
c.1810G>A (p.Gly604Arg)
n.2106G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC

Number of alleles fetched