Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42911000G>TCA256183G6PC1c.648G>T (p.Leu216=)
c.*40G>T (n.*40G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911000G>ACA500104657G6PC1c.648G>A (p.Leu216=)
c.*40G>A (n.*40G>A)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched