Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
912	c.912_913insAGGC	p.Tyr306Profs*19	Insertion	Exon 7	1	1
935	c.935C>T	p.Thr312Ile	Benign	Exon 7
953	c.953C>T	p.Ser318Leu	Missense	Exon 7	1	1
961	c.961T>C	p.Phe321Leu	Animal model	Exon 7
965	c.965_966delAT	p.Tyr322*	Deletion	Exon 7	1	2
1010	c.1010G>A	p.Arg337Gln	Benign	Exon 7

Primary Mutation Type Distribution