Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240869357G>CCA2209057AGXTc.353G>C (p.Arg118Pro)
n.373G>C
n.405+876C>G
ClinVar dbSNP ExAC
2g.240869357G>ACA275679AGXTc.353G>A (p.Arg118His)
n.373G>A
n.405+876C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched