Gene Mutations
 
Records Return:  (10) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
INSR14767024620019p13.23-BP DEL (N281) LEPRECHAUNISM1
INSR14767024620019p13.2ARG1092TRP LEPRECHAUNISM1
INSR14767024620019p13.2ARG897TER LEPRECHAUNISM1
INSR14767024620019p13.2ASN431ASP LEPRECHAUNISM1
INSR14767024620019p13.2GLU124TER LEPRECHAUNISM1
INSR14767024620019p13.2IVS13+1,G>A LEPRECHAUNISM1
INSR14767024620019p13.2LEU233PRO0010LEPRECHAUNISM, GELDEIMALSEN TYPE1
INSR14767024620019p13.2LEU93GLN LEPRECHAUNISM1
INSR14767024620019p13.2SER323LEU LEPRECHAUNISM1
INSR14767024620019p13.2TYR1122TER LEPRECHAUNISM1