Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240869353G>TCA275674AGXTc.349G>T (p.Glu117Ter)
n.369G>T
n.405+880C>A
 ClinVar dbSNP
2g.240869353G>ACA351313973AGXTc.349G>A (p.Glu117Lys)
n.369G>A
n.405+880C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched