Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
458	c.458G>T	p.Gly153Val	Missense	Exon 4	2	2
475	c.475G>A	p.Asp159Asn	Missense	Exon 4	1	2
478	c.478G>A	p.Trp193*	Nonsense	Exon 4	1	1
484	c.484_487dupGCCA	p.Thr163Serfs*25	Duplication	Exon 4	1	2
561	c.561delG	p.Arg188Aspfs*58	Deletion	Exon 4	2	2
562	c.562C>T	p.Arg188*	Nonsense	Exon 4
590	c.590C>G	p.Pro197Arg	Missense	Exon 4	1	1
598	c.598C>A	p.His200Asn	Missense	Exon 4	2	2
599	c.599A>T	p.His200Leu	Missense	Exon 4	2	2
605	c.605G>C	p.Arg202Pro	Missense	Exon 4	1	2

Primary Mutation Type Distribution