Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121166652C>TCA353706TBCEL-TECTA,TECTAc.5458C>T (p.Leu1820Phe)
c.5443C>T (p.Leu1815Phe)
c.2750C>T
n.1379C>T
c.6400C>T (p.Leu2134Phe)
ClinVar dbSNP gnomAD v4 COSMIC
11g.121166652C=CA2004749331TBCEL-TECTA,TECTAc.5458C= (p.Leu1820=)
c.5443C= (p.Leu1815=)
c.2750C=
n.1379C=
c.6400C= (p.Leu2134=)
dbSNP

Number of alleles fetched