Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
764	c.764-1G>C	p.Val256_Gly260del5	Splice	Intron 5	1	1
1026	c.1026+2T>G	p.Gln339_Val342del4	Splice	Intron 7	8	10
1309	c.1309+1G>T	p.Val411Metfs*40	Splice	Intron 10	1	1
1310	c.1310-2A>G	Not expressed	Splice	Intron 10	1	1
1420	c.1420-3del25	p.Val474_Arg509del36 p.Val474_Gln495del22	Splice	Intron 11	1	1
1527	c.1527+2T>A	p.Val474_Arg509del36 p.Phe510Valfs*15	Splice	Intron 12	1	1
1527	c.1527+2T>G	p.Val474_Arg509del36	Splice	Intron 12	3	6
1527	c.1527+1G>C	No experimental data	Splice	Intron 12	1	2
1645	c.1645-1G>A	No experimental data	Splice	Intron 13	1	1
1830	c.1830+1G>A	No experimental data	Splice	Intron 14	1	1
1830	c.1830+1G>C	p.Val549_Glu610del	Splice	Intron 14	20	22
1831	c.1831-2A>G	p.His611Glyfs*3	Splice	Intron 14	4	6
1929	c.1929-2A>G	No experimental data	Splice	Intron 15	1	2
2165	c.2165+1G>A	p.Thr683Argfs*12 p.Trp714Cys_Ser715Gly722del8	Splice	Intron 17	2	4
2165	c.2165+1G>T	p.Thr683Argfs*12 p.Trp714Cys_Ser715Gly722del8	Splice	Intron 17	2	2
2355	c.2355G>A	p.Arg757Metfs*6	Splice	Exon 19	5	6
2355	c.2355+1G>C	p.Arg757Metfs*6	Splice	Intron 19	1	2
2436	c.2436+1G>A	p.Asp786_Met812del27	Splice	Intron 20	1	2
2436	c.2436+5G>A	p.Asp786_Met812del27	Splice	Intron 20	1	1
2437	c.2437-2A>G	p.His814Leufs*41	Splice	Intron 20	1	2

Primary Mutation Type Distribution