Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240869202C>GCA253542AGXTc.198C>G (p.Tyr66Ter)
n.405+1031G>C
n.218C>G
ClinVar dbSNP gnomAD
2g.240869202C>TCA2209033AGXTc.198C>T (p.Tyr66=)
n.405+1031G>A
n.218C>T
dbSNP ExAC gnomAD COSMIC

Number of alleles fetched