Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.228158333delCA16617082GJC2c.575del (p.Pro192ArgfsTer18)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.228158333dupCA1139656618GJC2c.575dup (p.Thr195AspfsTer?)
ClinVar dbSNP

Number of alleles fetched