Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.207473117G>ACA1368823CR2c.1547G>A (p.Ser516Asn)
c.1536G>A
c.1916G>A (p.Ser639Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207473117G=CA1139774288CR2c.1547G= (p.Ser516=)
c.1536G=
c.1916G= (p.Ser639=)
 dbSNP

Number of alleles fetched