Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
1333	c.1333C>T	p.His445Tyr	Missense	Exon 11	2	4
1351	c.1351G>T	p.Gly451Cys	Missense	Exon 11	3	3
1358	c.1358C>T	p.Ser453Phe	Missense	Exon 11	2	4
1358	c.1358C>A	p.Ser453Tyr	Missense	Exon 11	1	2
1370	c.1370T>A	p.Val457Glu	Missense	Exon 11	2	2
1383	c.1383C>A	p.Tyr461*	Nonsense	Exon 11	6	6
1383	c.1383C>G	p.Tyr461*	Nonsense	Exon 11	1	2
1388	c.1388_1389delGC	p.Arg463Profs*53	Deletion	Exon 11	2	2
1390	c.1390C>T	p.Gln464*	Nonsense	Exon 11	1	1

Primary Mutation Type Distribution