Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
2368	c.2368C>T	p.Gln790*	Nonsense	Exon 20	2	4
2398	c.2398G>C	p.Gly800Arg	Missense	Exon 20	1	1
2398	c.2398G>T	p.Gly800Trp	Missense	Exon 20	2	2
2402	c.2402dupG	p.Ser802Glnfs*129	Duplication	Exon 20	5	7
2402	c.2402G>A	p.Gly801Asp	Missense	Exon 20
2426	c.2426T>C	p.Leu809Pro	Missense	Exon 20	11	12

Primary Mutation Type Distribution