Gene Mutations
 
Records Return:  (15) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
COL3A11201801300502q311763_1769delGTGCTCCinsTAAG EHLERS-DANLOS SYNDROME, TYPE IV2
COL3A11201801300502q31766delA EHLERS-DANLOS SYNDROME, TYPE IV4
COL3A11201801300502q31ARG1024TER EHLERS-DANLOS SYNDROME, TYPE IV6
COL3A11201801300502q31GLY178ARG EHLERS-DANLOS SYNDROME, TYPE IV2
COL3A11201801300502q31GLY334ARG EHLERS-DANLOS SYNDROME, TYPE IV4
COL3A11201801300502q31GLY373ARG EHLERS-DANLOS TYPE IV2
COL3A11201801300502q31GLY55VAL EHLERS-DANLOS SYNDROME, TYPE IV1
COL3A11201801300502q31GLY708ASP EHLERS-DANLOS SYNDROME, TYPE IV1
COL3A11201801300502q31GLY762ASP EHLERS-DANLOS SYNDROME, TYPE IV2
COL3A11201801300502q31GLY85VAL EHLERS-DANLOS SYNDROME, TYPE IV2
COL3A11201801300502q31IVS15-2A>G EHLERS-DANLOS SYNDROME,TYPE IV2
COL3A11201801300502q31IVS37+1delG EHLERS-DANLOS SYNDROME, TYPE IV2
COL3A11201801300502q31IVS40-1G>A EHLERS-DANLOS SYNDROME, TYPE IV2
COL3A11201801300502q31IVS8+5G>A EHLERS-DANLOS SYNDROME, TYPE IV4
COL3A11201801300502q31PRO1440SER EHLERS-DANLOS SYNDROME, TYPE IV1