Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.24953646G>CCA370620192NEFLc.1319C>G (p.Pro440Arg)
c.*184C>G (n.*184C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.24953646G>ACA233076NEFLc.1319C>T (p.Pro440Leu)
c.*184C>T (n.*184C>T)
ClinVar dbSNP gnomAD v4

Number of alleles fetched