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Gene: GLI1 & Disease: PPD1, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1285295	GLI1	c.3298G>C	p.Glu1100Gln (p.E1100Q)	NM_005269.3 M	SNV	B	2 +	1
626906	GLI1	c.1517T>A	p.Leu506Gln (p.L506Q)	NM_005269.3 M	SNV	P	1 +	1
1277191	GLI1	c.576G>A	p.Glu192= (p.E192=)	NM_005269.3 M	SNV	B	2 +	1
1240928	GLI1	c.2798G>A	p.Gly933Asp (p.G933D)	NM_005269.3 M	SNV	B	2 +	1
1285295	GLI1	c.2914G>C	p.Glu972Gln (p.E972Q)	NM_001160045.2	SNV	B	2 +	1
1285295	GLI1	c.3175G>C	p.Glu1059Gln (p.E1059Q)	NM_001167609.2	SNV	B	2 +	1
626906	GLI1	c.1133T>A	p.Leu378Gln (p.L378Q)	NM_001160045.2	SNV	P	1 +	1
626906	GLI1	c.1394T>A	p.Leu465Gln (p.L465Q)	NM_001167609.2	SNV	P	1 +	1
1277191	GLI1	c.192G>A	p.Glu64= (p.E64=)	NM_001160045.2	SNV	B	2 +	1
1277191	GLI1	c.453G>A	p.Glu151= (p.E151=)	NM_001167609.2	SNV	B	2 +	1
1240928	GLI1	c.2414G>A	p.Gly805Asp (p.G805D)	NM_001160045.2	SNV	B	2 +	1
1240928	GLI1	c.2675G>A	p.Gly892Asp (p.G892D)	NM_001167609.2	SNV	B	2 +	1

12 Results, 20 per Page

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