Gene Mutation Browser

Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
PPT1	600722	256730	1p32	255_257delCTT		CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	1
PPT1	600722	256730	1p32	ARG122TRP	0001	CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	1
PPT1	600722	600680	1p32	ARG151TER	0006	CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC	6
PPT1	600722	256730	1p32	ARG164TER		CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	2
PPT1	600722	600680	1p32	ASP79GLY	0003	CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC	1
PPT1	600722	256730	1p32	GLN177GLU		CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	2
PPT1	600722	256730	1p32	GLN291TER		CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	1
PPT1	600722	256730	1p32	GLY42GLU		CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	1
PPT1	600722	600722	1p32	MET1ILE		CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE, CLN1	1
PPT1	600722	600680	1p32	THR75PRO	0002	CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC	2
PPT1	600722	256730	1p32	TRP296TER		CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	1
PPT1	600722	600722	1p32	TYR247HIS		CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	1
PPT1	600722	256730	1p32	VAL181MET		CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	1