From: Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract
Mutation type
Number
SNP analysis
Missense
1363
Nonsense
34
Splice site
206
Readthrough
5
Indel analysis
indel
37
50
Frameshift
41
5-UTR
87
3-UTR
Promoter
4
Total
1868