Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.115717869A>GCA301904CASQ2c.*181T>C (n.*181T>C)
c.809T>C (p.Ile270Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115717869A>TCA341767862CASQ2c.*181T>A (n.*181T>A)
c.809T>A (p.Ile270Asn)
 dbSNP gnomAD v4

Number of alleles fetched