Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71553131G>ACA1705980DYSFc.1876G>A (p.Asp626Asn)
c.1831G>A (p.Asp611Asn)
c.1873G>A (p.Asp625Asn)
c.1966G>A (p.Asp656Asn)
c.1924G>A (p.Asp642Asn)
c.1969G>A (p.Asp657Asn)
c.1834G>A (p.Asp612Asn)
c.1927G>A (p.Asp643Asn)
n.2127G>A
dbSNP ExAC gnomAD
2g.71553131G>TCA253909DYSFc.1876G>T (p.Asp626Tyr)
c.1831G>T (p.Asp611Tyr)
c.1873G>T (p.Asp625Tyr)
c.1966G>T (p.Asp656Tyr)
c.1924G>T (p.Asp642Tyr)
c.1969G>T (p.Asp657Tyr)
c.1834G>T (p.Asp612Tyr)
c.1927G>T (p.Asp643Tyr)
n.2127G>T
ClinVar dbSNP

Number of alleles fetched