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When using or discussing LOVD please refer to:
Fokkema IFAC, Den Dunnen JT and Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach.
Hum Mutat. 2005 Aug;26(2):63-8.

RPGR @ rpgr.hgu.mrc.ac.uk/
Sequence variant tables - Summary
Substitutions (151):
42.2% 42.2%
Insertions (22):
6.1% 6.1%
Deletions (170):
47.5% 47.5%
Duplications (18):
5% 5%
Total (358)
100%
 
Total unique (358)
100%
 




Sequence variant tables - Summary - Sequence variants per exon
Exon 1 (3):
0.8%
0.8%
Exon 10 (18):
5%
5%
Exon 11 (12):
3.4%
3.4%
Exon 12 (10):
2.8%
2.8%
Exon 13 (7):
2%
2%
Exon 14 (8):
2.2%
2.2%
Exon 16 (1):
0.3%
0.3%
Exon 17 (1):
0.3%
0.3%
Exon 18 (1):
0.3%
0.3%
Exon 19 (1):
0.3%
0.3%
Exon 2 (12):
3.4%
3.4%
Exon 3 (7):
2%
2%
Exon 4 (8):
2.2%
2.2%
Exon 5 (10):
2.8%
2.8%
Exon 6 (16):
4.5%
4.5%
Exon 7 (18):
5%
5%
Exon 8 (20):
5.6%
5.6%
Exon 9 (6):
1.7%
1.7%
Exon ORF15 (199):
55.6%
55.6%


Sequence variant tables - Summary - Substitutions
Substitutions (151):
Of which:
42.2%
42.2%
Missense Substitutions (55):
36.4%
36.4%
Nonsense Substitutions (55):
36.4%
36.4%
Other Substitutions (151):
100%
100%
Unique Substitutions (151):
100%
100%


Sequence variant tables - Summary - Insertions
Insertions (22):
Of which:
6.1%
6.1%
Unique Insertions (22):
100%
100%


Sequence variant tables - Summary - Deletions
Deletions (170):
Of which:
47.5%
47.5%
Unique Deletions (170):
100%
100%


Sequence variant tables - Summary - Duplications
Duplications (18):
Of which:
5%
5%
Unique Duplications (18):
100%
100%



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