Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
783	c.783C>A	p.Tyr261*	Nonsense	Exon 6	1	2
788	c.788C>T	p.Pro263Leu	Missense	Exon 6	1	1
809	c.809dupA	p.Asp270Glufs*54	Duplication	Exon 6	1	1
812	c.812_813dupTG	p.Leu272Cysfs*27	Duplication	Exon 6	1	2
832	c.832C>G	p.Leu278Val	Benign	Exon 6
844	c.844C>T	p.Pro282Ser	Benign	Exon 6

Primary Mutation Type Distribution