Gene Mutation Browser

Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Omim Phenotype	Sample Count
COL3A1	120180	130050	2q31	1763_1769delGTGCTCCinsTAAG	EHLERS-DANLOS SYNDROME, TYPE IV	2
COL3A1	120180	130050	2q31	766delA	EHLERS-DANLOS SYNDROME, TYPE IV	4
COL3A1	120180	130050	2q31	ARG1024TER	EHLERS-DANLOS SYNDROME, TYPE IV	6
COL3A1	120180	130050	2q31	GLY178ARG	EHLERS-DANLOS SYNDROME, TYPE IV	2
COL3A1	120180	130050	2q31	GLY334ARG	EHLERS-DANLOS SYNDROME, TYPE IV	4
COL3A1	120180	130050	2q31	GLY373ARG	EHLERS-DANLOS TYPE IV	2
COL3A1	120180	130050	2q31	GLY55VAL	EHLERS-DANLOS SYNDROME, TYPE IV	1
COL3A1	120180	130050	2q31	GLY708ASP	EHLERS-DANLOS SYNDROME, TYPE IV	1
COL3A1	120180	130050	2q31	GLY762ASP	EHLERS-DANLOS SYNDROME, TYPE IV	2
COL3A1	120180	130050	2q31	GLY85VAL	EHLERS-DANLOS SYNDROME, TYPE IV	2
COL3A1	120180	130050	2q31	IVS15-2A>G	EHLERS-DANLOS SYNDROME,TYPE IV	2
COL3A1	120180	130050	2q31	IVS37+1delG	EHLERS-DANLOS SYNDROME, TYPE IV	2
COL3A1	120180	130050	2q31	IVS40-1G>A	EHLERS-DANLOS SYNDROME, TYPE IV	2
COL3A1	120180	130050	2q31	IVS8+5G>A	EHLERS-DANLOS SYNDROME, TYPE IV	4
COL3A1	120180	130050	2q31	PRO1440SER	EHLERS-DANLOS SYNDROME, TYPE IV	1