Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232530131C>ACA128063CHRNDc.812C>A (p.Pro271Gln)
c.510-1221C>A (n.510-1221C>A)
c.702C>A (p.Thr234=)
c.*453C>A (n.*453C>A)
c.767C>A (p.Pro256Gln)
c.239-1221C>A (n.239-1221C>A)
c.509C>A (p.Pro170Gln)
c.-4294966730-1221C>A
c.-4294966460C>A
c.431C>A (p.Pro144Gln)
ClinVar dbSNP
2g.232530131C>TCA351001212CHRNDc.812C>T (p.Pro271Leu)
c.510-1221C>T (n.510-1221C>T)
c.702C>T (p.Thr234=)
c.*453C>T (n.*453C>T)
c.767C>T (p.Pro256Leu)
c.239-1221C>T (n.239-1221C>T)
c.509C>T (p.Pro170Leu)
c.-4294966730-1221C>T
c.-4294966460C>T
c.431C>T (p.Pro144Leu)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched