Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
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
2436	c.2436+408del11022		Large deletion	Intron 20	1	2
2437	c.2437-2A>G	p.His814Leufs*41	Splice	Intron 20	1	2

Primary Mutation Type Distribution