Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.70300842G>ACA174976FAM136Ac.*104C>T (n.*104C>T)
c.226C>T (p.Gln76Ter)
c.547C>T (p.Gln183Ter)
c.436C>T (p.Gln146Ter)
n.894C>T
n.227C>T
c.133C>T (p.Gln45Ter)
c.481C>T (p.Gln161Ter)
ClinVar dbSNP
2g.70300842G=CA1259509817FAM136Ac.*104C= (n.*104C=)
c.226C= (p.Gln76=)
c.547C= (p.Gln183=)
c.436C= (p.Gln146=)
n.894C=
n.227C=
c.133C= (p.Gln45=)
c.481C= (p.Gln161=)
dbSNP

Number of alleles fetched