Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
152	c.152delG	p.Gly51Aspfs*13	Deletion	Exon 1	1	2
241	c.241delG	p.Val81Trpfs*76	Deletion	Exon 2	1	1
422	c.422delA	p.Asp141Alafs*16	Deletion	Exon 3	3	3
561	c.561delG	p.Arg188Aspfs*58	Deletion	Exon 4	2	2
965	c.965_966delAT	p.Tyr322*	Deletion	Exon 7	1	2
1388	c.1388_1389delGC	p.Arg463Profs*53	Deletion	Exon 11	2	2
1519	c.1519delG	p.Ala507Argfs*16	Deletion	Exon 12	1	2
1548	c.1548delT	p.Leu518Trpfs*5	Deletion	Exon 13	1	1
1816	c.1816delA	p.Thr606Profs*18	Deletion	Exon 14	3	3
2013	c.2013delT	p.Val672*	Deletion	Exon 16	1	2
2219	c.2219delA	p.Lys740Argfs*26	Deletion	Exon 18	1	1
2332	c.2332_2335delGTCA	p.Val778Thrfs*13	Deletion	Exon 19	1	2
2548	c.2548delC	p.Gln850Argfs*74	Deletion	Exon 21	2	4
2660	c.2660delC	p.Thr887Serfs*45	Deletion	Exon 22
2667	c.2667_2668delCT	p.Ser890Argfs*40	Deletion	Exon 22	1	2
2851	c.2851delC	p.Leu951Cysfs*82	Deletion	Exon 23	1	2
2921	c.2921_2922delCA	p.Thr974Argfs*80	Deletion	Exon 23	1	2
2944	c.2944_2947del	p.Pro982Thrfs*50	Deletion	Exon 24	1	1

Primary Mutation Type Distribution