Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.65592830A>GCA119663LEPRc.668A>G (p.Gln223Arg)
c.-127+20381A>G (n.-127+20381A>G)
n.818A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.65592830A>TCA340678382LEPRc.668A>T (p.Gln223Leu)
c.-127+20381A>T (n.-127+20381A>T)
n.818A>T
dbSNP

Number of alleles fetched