Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261684G>TCA354151047CASRc.649G>T (p.Asp217Tyr)
c.166G>T (p.Asp56Tyr)
c.61G>T (p.Asp21Tyr)
ClinVar dbSNP
3g.122261684G>ACA2569518CASRc.649G>A (p.Asp217Asn)
c.166G>A (p.Asp56Asn)
c.61G>A (p.Asp21Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched