Gene Mutations
 
Records Return:  (13) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
CHM300390303100Xq21.2295 A>T CHOROIDEREMIA1
CHM300390303100Xq21.2ALA117ALA CHOROIDEREMIA6
CHM300390303100Xq21.2ARG253TER CHOROIDEREMIA1
CHM300390303100Xq21.2ARG270TER CHOROIDEREMIA7
CHM300390303100Xq21.2c.116+215insCCTTT CHOROIDEREMIA3
CHM300390303100Xq21.2c.116+80C>T CHOROIDEREMIA3
CHM300390303100Xq21.2c.189+1G>T CHOROIDEREMIA3
CHM300390303100Xq21.2c.757C>T CHOROIDEREMIA1
CHM300390303100Xq21.2c.887 C>T CHOROIDEREMIA1
CHM300390303100Xq21.2c.941dupG CHOROIDEREMIA1
CHM300390303100Xq21.2EX6_8del CHOROIDEREMIA1
CHM300390303100Xq21.2SER190TER CHOROIDEREMIA2
CHM300390303100Xq21.2Thr175 del2acAG CHOROIDEREMIA1