Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
293	c.293dupA	p.Tyr99Valfs*62	Duplication	Exon 3	1	2
338	c.338_348dup11	p.Ile117Profs*44	Duplication	Exon 3	1	2
484	c.484_487dupGCCA	p.Thr163Serfs*25	Duplication	Exon 4	1	2
809	c.809dupA	p.Asp270Glufs*54	Duplication	Exon 6	1	1
812	c.812_813dupTG	p.Leu272Cysfs*27	Duplication	Exon 6	1	2
1047	c.1047_1048dupCC	p.His350Profs*15	Duplication	Exon 8
1076	c.1076dupA	p.Tyr359*	Duplication	Exon 8	1	2
1152	c.1152_1153dupCC	p.His385Profs*93	Duplication	Exon 9	3	4
1156	c.1156dupC	p.Gln386ProfxS53	Duplication	Exon 9	2	2
1197	c.1197dupA	p.Arg400Thrfs*39	Duplication	Exon 9	1	2
1858	c.1858dupA	p.Thr620Asnfs*31	Duplication	Exon 15	2	4
2402	c.2402dupG	p.Ser802Glnfs*129	Duplication	Exon 20	5	7
2439	c.2439_2444dup6	p.His814_Arg815dup	Duplication	Exon 21	1	1
2675	c.2675dupT	p.Arg893Alafs*38	Duplication	Exon 22	1	1
2727	c.2727_2745dup19	p.Arg916Profs*21	Duplication	Exon 22	2	4
2802	c.2802dupC	p.Val935Argfs*120	Duplication	Exon 22	1	2
2900	c.2900_2901dupGG	p.Leu968Glyfs*66	Duplication	Exon 23	2	2
2920	c.2920dupA	p.Thr974Asnfs*81	Duplication	Exon 23	1	2

Primary Mutation Type Distribution