Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219421494A>GCA2125252DESn.652A>G
n.566A>G
c.1178A>G (p.Asn393Ser)
n.650A>G
n.573A>G
c.1175A>G (p.Asn392Ser)
c.746A>G (p.Asn249Ser)
c.1109A>G (p.Asn370Ser)
c.1157A>G (p.Asn386Ser)
c.908A>G (p.Asn303Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219421494A>TCA217030DESn.652A>T
n.566A>T
c.1178A>T (p.Asn393Ile)
n.650A>T
n.573A>T
c.1175A>T (p.Asn392Ile)
c.746A>T (p.Asn249Ile)
c.1109A>T (p.Asn370Ile)
c.1157A>T (p.Asn386Ile)
c.908A>T (p.Asn303Ile)
ClinVar dbSNP

Number of alleles fetched