Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
2219	c.2219delA	p.Lys740Argfs*26	Deletion	Exon 18	1	1
2234	c.2234C>G	p.Thr745Arg	Missense	Exon 18	1	2
2248	c.2248C>T	p.Arg750Trp	Missense	Exon 18	74	110
2251	c.2251G>T	p.Glu751*	Nonsense	Exon 18	1	1

Primary Mutation Type Distribution