Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.42699868G>TCA3254418GHRc.484G>T (p.Val162Phe)
c.418G>T (p.Val140Phe)
c.*96G>T (n.*96G>T)
c.505G>T (p.Val169Phe)
c.439G>T (p.Val147Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699868G>ACA119809GHRc.484G>A (p.Val162Ile)
c.418G>A (p.Val140Ile)
c.*96G>A (n.*96G>A)
c.505G>A (p.Val169Ile)
c.439G>A (p.Val147Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched