Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.66851149G>TCA341756PCc.2114C>A (p.Ser705Ter)
n.290-1084C>A
c.*123C>A (n.*123C>A)
c.*590C>A (n.*590C>A)
n.727C>A
c.593C>A (p.Ser198Ter)
c.818C>A (p.Ser273Ter)
c.749C>A (p.Ser250Ter)
ClinVar dbSNP
11g.66851149G=CA1979880710PCc.2114C= (p.Ser705=)
n.290-1084C=
c.*123C= (n.*123C=)
c.*590C= (n.*590C=)
n.727C=
c.593C= (p.Ser198=)
c.818C= (p.Ser273=)
c.749C= (p.Ser250=)
dbSNP

Number of alleles fetched