Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232534087G>CCA2168290CHRNDc.1204G>C (p.Glu402Gln)
c.*386G>C (n.*386G>C)
c.*845G>C (n.*845G>C)
c.1159G>C (p.Glu387Gln)
c.622G>C (p.Glu208Gln)
c.901G>C (p.Glu301Gln)
c.-4294966347G>C
c.-4294966068G>C
c.823G>C (p.Glu275Gln)
dbSNP ExAC gnomAD v2
2g.232534087G>ACA2168289CHRNDc.1204G>A (p.Glu402Lys)
c.*386G>A (n.*386G>A)
c.*845G>A (n.*845G>A)
c.1159G>A (p.Glu387Lys)
c.622G>A (p.Glu208Lys)
c.901G>A (p.Glu301Lys)
c.-4294966347G>A
c.-4294966068G>A
c.823G>A (p.Glu275Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched