Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.115705212C>TCA1023696CASQ2c.*291G>A (n.*291G>A)
c.919G>A (p.Asp307Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.115705212C>GCA341468CASQ2c.*291G>C (n.*291G>C)
c.919G>C (p.Asp307His)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched