Summary by likely disease causing variants

This table classifies all disease-causing mutations by type.

Mutation type	Proportion of identified mutations
Missense mutation	86.1%
Nonsense mutation	5.6%
Small deletion (<21bp)	1.4%
Small indel (<21bp)	2.8%
Small insertion (<21bp)	4.2%
Repeat expansion	0%
Complex rearrangement including inversions	0%
Gross deletion (>20bp)	0%
Gross insertion and duplication (>20bp)	0%
Splicing mutation	0%
Regulatory mutation	0%
Non-coding region deletion	0%
Non-coding region insertion	0%
Non-coding region nucleotide substitution	0%
Other	0%

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Frequency and location of mutations

The following graph represents the frequency and location of mutations within the exons of the myocilin gene. Use the ideogram above to navigate to specific exon and intron regions represented in the graph below. Click the individual variant bars to view allele specific information pertaining to the variant.