Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
2660	c.2660delC	p.Thr887Serfs*45	Deletion	Exon 22
2667	c.2667_2668delCT	p.Ser890Argfs*40	Deletion	Exon 22	1	2
2669	c.2669C>G	p.Ser890*	Nonsense	Exon 22	2	2
2671	c.2671G>A	p.Gly891Arg	Missense	Exon 22	1	1
2675	c.2675T>C	p.Leu892Pro	Missense	Exon 22	1	1
2675	c.2675dupT	p.Arg893Alafs*38	Duplication	Exon 22	1	1
2724	c.2724G>A	p.Trp908*	Nonsense	Exon 22	2	3
2727	c.2727_2745dup19	p.Arg916Profs*21	Duplication	Exon 22	2	4
2746	c.2746C>T	p.Arg916Cys	Missense	Exon 22	1	1
2746	c.2746C>A	p.Arg916Ser	Missense	Exon 22
2747	c.2747G>A	p.Arg916His	Missense	Exon 22	1	1
2802	c.2802dupC	p.Val935Argfs*120	Duplication	Exon 22	1	2

Primary Mutation Type Distribution