Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
157	c.157G>T	p.Glu53*	Nonsense	Exon 1
231	c.231G>A	p.Trp77*	Nonsense	Exon 2	1	1
383	c.383G>A	p.Trp128*	Nonsense	Exon 3
418	c.418C>T	p.Arg140*	Nonsense	Exon 3	3	4
478	c.478G>A	p.Trp193*	Nonsense	Exon 4	1	1
562	c.562C>T	p.Arg188*	Nonsense	Exon 4
709	c.709C>T	p.Gln237*	Nonsense	Exon 5	2	2
783	c.783C>A	p.Tyr261*	Nonsense	Exon 6	1	2
1077	c.1077C>A	p.Tyr359*	Nonsense	Exon 8	2	2
1109	c.1109G>A	p.Trp370*	Nonsense	Exon 8	2	4
1383	c.1383C>G	p.Tyr461*	Nonsense	Exon 11	1	2
1383	c.1383C>A	p.Tyr461*	Nonsense	Exon 11	6	6
1390	c.1390C>T	p.Gln464*	Nonsense	Exon 11	1	1
1687	c.1687G>T	p.Glu563*	Nonsense	Exon 14	3	6
1915	c.1915C>T	p.Gln639*	Nonsense	Exon 15	1	1
1929	c.1929G>A	p.Trp643*	Nonsense	Exon 16	1	1
2251	c.2251G>T	p.Glu751*	Nonsense	Exon 18	1	1
2278	c.2278C>T	p.Arg760*	Nonsense	Exon 19
2299	c.2299C>T	p.Gln767*	Nonsense	Exon 19	4	6
2368	c.2368C>T	p.Gln790*	Nonsense	Exon 20	2	4
2443	c.2443C>T	p.Arg815*	Nonsense	Exon 21	1	1
2515	c.2515C>T	p.Arg839*	Nonsense	Exon 21	1	1
2587	c.2587G>T	p.Glu863*	Nonsense	Exon 21	1	1
2669	c.2669C>G	p.Ser890*	Nonsense	Exon 22	2	2
2724	c.2724G>A	p.Trp908*	Nonsense	Exon 22	2	3

Primary Mutation Type Distribution