Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80099700C>ACA275098CCDC40c.3354C>A (p.Tyr1118Ter)
n.2891C>A
c.3264C>A (p.Tyr1088Ter)
c.2175C>A (p.Tyr725Ter)
n.3472C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80099700C>TCA8814713CCDC40c.3354C>T (p.Tyr1118=)
n.2891C>T
c.3264C>T (p.Tyr1088=)
c.2175C>T (p.Tyr725=)
n.3472C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched