Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71515660G>CCA347208444DYSFc.701G>C (p.Gly234Ala)
c.797G>C (p.Gly266Ala)
c.704G>C (p.Gly235Ala)
c.794G>C (p.Gly265Ala)
n.955G>C
dbSNP
2g.71515660G>ACA275400DYSFc.701G>A (p.Gly234Glu)
c.797G>A (p.Gly266Glu)
c.704G>A (p.Gly235Glu)
c.794G>A (p.Gly265Glu)
n.955G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched