Gene Mutations
 
Records Return:  (8) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
TSC219109261325416p13.32468insT TUBEROUS SCLEROSIS, TYPE 23
TSC219109261325416p13.32743-1G>A TUBEROUS SCLEROSIS, TYPE 22
TSC219109261325416p13.3ARG1743GLN TUBEROUS SCLEROSIS, TYPE 23
TSC219109261325416p13.3ARG611TRP TUBEROUS SCLEROSIS, TYPE 21
TSC219109261325416p13.3c.3693_3696delGTCT TUBEROUS SCLEROSIS, TYPE 26
TSC219109261325416p13.3DEL EX1-14 TUBEROUS SCLEROSIS, TYPE 22
TSC219109261325416p13.3GLN1503PRO0011TUBEROUS SCLEROSIS, TYPE 219
TSC219109261325416p13.3HIS522THR TUBEROUS SCLEROSIS, TYPE 22