Mutations

Reset Report

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
743	c.743C>T	p.Pro248Leu	Benign	Exon 5
747	c.747C>T	p.= (silent)	Benign	Exon 5
832	c.832C>G	p.Leu278Val	Benign	Exon 6
844	c.844C>T	p.Pro282Ser	Benign	Exon 6
935	c.935C>T	p.Thr312Ile	Benign	Exon 7
1010	c.1010G>A	p.Arg337Gln	Benign	Exon 7
1204	c.1204G>A	p.Glu402Lys	Benign	Exon 9	1	1
1238	c.1238A>G	p.Asn413Ser	Benign	Exon 10
1309	c.1309+34C>A	(intronic)	Benign	Intron 10
1310	c.1310-22T>C	(intronic)	Benign	Intron 10
1441	c.1441G>T	p.Ala481Ser	Benign	Exon 12
2006	c.2006C>T	p.Pro669Leu	Benign	Exon 16
2267	c.2267+63G>A	(intronic)	Benign	Intron 18
2267	c.2267+3G>C	(intronic)	Benign	Intron 18
2268	c.2268-45T>G	(intronic)	Benign	Intron 18
2865	c.2865G>C	p.= (silent)	Benign	Exon 23

Primary Mutation Type Distribution