Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
1136	c.1136C>T	p.Pro379Leu	Missense	Exon 9	1	1
1152	c.1152_1153dupCC	p.His385Profs*93	Duplication	Exon 9	3	4
1156	c.1156dupC	p.Gln386ProfxS53	Duplication	Exon 9	2	2
1168	c.1168G>T	p.Gly390Cys	Missense	Exon 9	1	2
1197	c.1197dupA	p.Arg400Thrfs*39	Duplication	Exon 9	1	2
1204	c.1204G>A	p.Glu402Lys	Benign	Exon 9	1	1

Primary Mutation Type Distribution