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319 variant records found

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OMIA ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
OMIA 001402-9615 dog Multidrug resistance 1 ABCB1 regulatory no c.-6-180T>G 2011 21488961
OMIA 001402-9615 dog Multidrug resistance 1 ABCB1 deletion, small (<=20) yes c.295_298delAGAT p.Asp75fs 2001 11692082 Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 001402-9615 dog Multidrug resistance 1 ABCB1 insertion, small (<=20) yes c.73insAAT 2010 21113104
OMIA 001524-9615 dog Gallbladder mucoceles ABCB4 insertion, small (<=20) yes c.1583_1584G 2010 20598156
OMIA 001520-9615 dog Cone-rod dystrophy 3 ADAM9 deletion, gross (>20) yes "a deletion of exons 15 and 16 which alters the reading frame leading to a premature stop codon" in the ADAM9 gene 2010 20691256
OMIA 001870-9615 dog Beagle Glaucoma, primary open angle ADAMTS10 missense yes p.G661R 2011 21379321
OMIA 001870-9615 dog Norwegian Elkhound Glaucoma, primary open angle ADAMTS10 missense yes CanFam3.1 20 g.53101896G>A c.1159G>A p.A387T 2014 25372548 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001976-9615 dog Glaucoma, primary open angle, ADAMTS17-related ADAMTS17 deletion, gross (>20) yes "19 bp deletion in exon 2 of ADAMTS17 (CanFam3.1 chr3:40,614,853-40,614,872)" 2015 26474315
OMIA 000588-9615 dog American hairless Chinese Crested Dog Jack Russell Terrier Lens luxation ADAMTS17 splicing yes CanFam3.1 3 g.40782144G>A c.1473+1G>A 2010 20375329 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001976-9615 dog Basset Fauve de Bretagne Glaucoma, primary open angle, due to mutations in ADAMTS17 ADAMTS17 missense yes CanFam3.1 3 g.40808345G>A c.1552G>A p.G518S 2015 26474315 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001140-9615 dog Cleft lip with or without cleft palate ADAMTS20 deletion, small (<=20) yes CanFam 3.1 c.1360_1361delAA p.Lys453Ilefs*3 2015 25798845
OMIA 001509-9615 dog Beagle Musladin-Lueke syndrome ADAMTSL2 missense yes CanFam3.1 9 g.49931561C>T c.661C>T p.R221C 2010 20862248 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001577-9615 dog Glycogen storage disease IIIa AGL deletion, small (<=20) yes c.4223delA 2007 17338148
OMIA 001672-9615 dog Coton de Tulear Primary hyperoxaluria type I (Oxalosis I) AGXT missense yes CanFam3.1 25 g.50968854G>A c.304G>A p.G102S 2012 22486513 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000791-9615 dog Persistent Mullerian duct syndrome AMHR2 nonsense (stop-gain) yes c.241C>T p.R??* 2009 18723470
OMIA 000565-9615 dog Intestinal cobalamin malabsorption, AMN-related AMN deletion, gross (>20) yes c.1113_1145del 2005 15845892
OMIA 000565-9615 dog Intestinal cobalamin malabsorption, AMN-related AMN regulatory yes 8 c.3G>A 2005 15845892
OMIA 000101-9615 dog Respiratory distress syndrome ANLN nonsense (stop-gain) yes CanFam3.1 14 g.47812143 c.31C>T p.R11* 2017 28222102 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001353-9615 dog Platelet receptor for factor X, deficiency of ANO6 splicing yes CanFam3.1 27 g.8912219 G>A 2015 26414452 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000248-9615 dog Neutropenia, cyclic AP3B1 insertion, small (<=20) yes a single base pair insertion in exon 20 of AP3 beta gene (AP3B1) 2003 12897784
OMIA 000666-9615 dog Miniature Pinscher Miniature Schnauzer Mucopolysaccharidosis VI ARSB missense yes c.??G>A p.G??R 2004 Reference not in PubMed; see OMIA 000666-9615 for reference details
OMIA 000666-9615 dog Miniature Poodle Mucopolysaccharidosis VI ARSB deletion, gross (>20) yes CanFam3.1 3 g.27870253_27870274del c.103_124del p.Ala35GlyfsTer108 2012 22329490 Variant information kindly provided by Karthik Raj and Urs Giger
OMIA 000666-9615 dog Great Dane Mucopolysaccharidosis VI ARSB nonsense (stop-gain) yes CanFam3.1 3 g.27870445C>T c.295C>T p.Q99* 2017 29157190 Variant information kindly provided by Karthik Raj and Urs Giger, and confirmed by Ensembl's VEP
OMIA 001503-9615 dog American Staffordshire terrier Neuronal ceroid lipofuscinosis, 4A ARSG missense yes CanFam3.1 9 g.15071276G>A c.296G>A p.R99H 2010 20679209 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000201-9615 dog Coat colour, agouti ASIP insertion, gross (>20) no "a short interspersed nuclear element (SINE) insertion in intron 1 of ASIP that allows for the differentiation of the a(w) wolf sable and a(t) black-and-tan alleles" 2011 21846741
OMIA 000201-9615 dog Coat colour, agouti ASIP insertion, gross (>20) no "a short interspersed element and a poly(A) stretch inserted within the promoter region of the ASIP" 2013 22524303
OMIA 000201-9615 dog Fawn or sable ASIP missense no c.244G>T; 248G>A p.A82S and p.R83H 2005 15965787
OMIA 000201-9615 dog German Shepherd Dog Recessive black ASIP missense no CanFam3.1 24 g.23393552C>T c.286C>T p.R96C 2004 15520882 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002099-9615 dog German Shepherd Dog Ichthyosis, ASPRV1-related ASPRV1 missense yes CanFam 3.1 c.1052T>C p.L351P 2017 28249031
OMIA 001471-9615 dog Standard Poodle Neonatal encephalopathy with seizures ATF2 missense yes CanFam3.1 36 g.19078954T>G c.152T>G p.M51R 2008 18074159 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001954-9615 dog Neurodegenerative vacuolar storage disease ATG4D missense yes CanFam3.1 20 g.50618958G>A c.1288G>A p.A430T 2015 25875846 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001552-9615 dog Neuronal ceroid lipofuscinosis, 12 ATP13A2 splicing yes c.1623delG p.P541 fs*56 Originally c.1620delG 2011 22022275 Present c. and p. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 002110-9615 dog Ataxia, cerebellar, ATP1B2-related ATP1B2 insertion, gross (>20) yes CanFam3.1 5 g.32551064_32551065insLT796559 c.130_131insLT796559.1 "a 227 bp SINE insertion into exon 2 of the ATP1B2 gene" 2017 28620085
OMIA 000640-9615 dog Labrador Retriever Menkes disease ATP7A missense yes CanFam3.1 X g.60279238C>T c.980C>T p.T327I 2016 26747866 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001071-9615 dog Labrador Retriever Wilson disease ATP7B missense yes CanFam3.1 22 g.225097G>A c.4358G>A p.R1453Q 2016 26747866 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002045-9615 dog Bardet-Biedl syndrome 4 BBS4 nonsense (stop-gain) yes CanFam 3.1 30 g.36063748A>T c.58A>T p.K20* 2017 28533336
OMIA 001592-9615 dog Episodic falling BCAN deletion, gross (>20) yes a 15.7kb deletion in the BCAN gene 2012 21821125
OMIA 001573-9615 dog Leukemia, chronic monocytic BCR complex rearrangement yes "Philadelphia chromosome" - a chromosomal translocation that results in chronic leukemia. This translocation involves the gene known as breakpoint cluster region (BCR). 2011 21143615
OMIA 001554-9615 dog Multifocal retinopathy 3 BEST1 cmr3 deletion, small (<=20) yes c.1388delC p.Pro463fs 2010 21197113 Variant information and allele abbreviation gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 001553-9615 dog Coton de Tulear Multifocal retinopathy 2 BEST1 cmr2 missense yes c.482G>A p.G161D 2007 17460247
OMIA 001444-9615 dog Multifocal retinopathy 1 BEST1 cmr1 nonsense (stop-gain) yes CanFam3.1 18 g.54478586C>T c.73C>T p.R25* 2007 17460247 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001660-9615 dog Myopathy, Great Dane BIN1 splicing yes IVS10-2A>G 2013 23754947
OMIA 001551-9615 dog Brachycephaly BMP3 missense yes CanFam3.1 32 g.5231894C>A c.1344C>A p. F448L 2012 22876193 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001512-9615 dog Invasive transitional cell carcinoma of the bladder BRAF missense yes p.V595E 2015 25767210
OMIA 002132-9615 dog Abortion (embryonic lethality), BTBD17-related BTBD17 insertion, small (<=20) yes CanFam 3.1 9 g.6048201_6048202insG rs852549625 2017 29053721
OMIA 001575-9615 dog Rod-cone dysplasia 4 C17H2orf71 insertion, small (<=20) yes c.3149_3150insC 2013 22686255
OMIA 000155-9615 dog C3 deficiency C3 deletion, small (<=20) yes "a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream" 1998 9510185
OMIA 001138-9615 dog Beagle Hypocatalasia CAT missense yes CanFam3.1 18 g.33397548G>A c.979G>A p.A327T 2000 11137458 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001416-9615 dog Coat colour, dominant black CBD103 deletion, small (<=20) no "a 3-base pair (bp) deletion in the second exon of CBD103, the ortholog of human DEFB103, that predicts an in-frame glycine deletion (ΔG23)" 2007 17947548
OMIA 001540-9615 dog Ciliary dyskinesia, primary CCDC39 nonsense (stop-gain) yes CanFam3.1 34 g.13952270C>T c.286C>T p.R96* 2011 21131972 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001521-9615 dog Generalized PRA CCDC66 insertion, small (<=20) yes 20 "a 1-bp insertion in exon 6 leading to a stop codon" 2010 19777273
OMIA 002072-9615 dog Old Danish Pointing Dog Myasthenic syndrome, congenital CHAT missense yes c.??G>A p.V29M 2007 17586598
OMIA 000685-9615 dog Myasthenic syndrome, congenital, due to CHRNE CHRNE insertion, small (<=20) yes c.633_634insC p.Gly212Argfs*274 2015 26429099
OMIA 000685-9615 dog Myasthenic syndrome, congenital, due to CHRNE CHRNE deletion, small (<=20) yes CanFam3.1 5 g.31707450_31707451insG c.1436_1437insG p.Ser479ArgfsTer14 2017 28508416
OMIA 000698-9615 dog Myotonia CLCN1 insertion, small (<=20) yes c.2665insA p.Arg889fs) 2007 17552451 Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 000698-9615 dog Miniature Schnauzer Myotonia CLCN1 missense yes CanFam3.1 16 g.6366383C>T c.803C>T p.T268M 1999 10452529 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001482-9615 dog Neuronal ceroid lipofuscinosis, 5 CLN5 deletion, small (<=20) yes c.934_935delAG p.E312Vfs*6 2015 25934231 Breed information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 001482-9615 dog Neuronal ceroid lipofuscinosis, 5 CLN5 nonsense (stop-gain) yes CanFam3.1 22 g.305746C>T37 c.619C>T p.Q207* 2005 16033706 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001443-9615 dog Australian Shepherd Neuronal ceroid lipofuscinosis, 6 CLN6 missense yes CanFam3.1 30 g.32247875 c.829T>C p.W277R 2011 21234413 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001506-9615 dog Neuronal ceroid lipofuscinosis, 8 CLN8 deletion, gross (>20) yes g.30852988_30902901del a homozygous deletion encompassing the entire CLN8 gene 2017 28024876 g. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 001506-9615 dog English Setter Neuronal ceroid lipofuscinosis, 8 CLN8 missense yes CanFam3.1 37 g.30874779T>C c.491T>C p.L164P 2005 15629147 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001506-9615 dog Neuronal ceroid lipofuscinosis, 8 CLN8 nonsense (stop-gain) yes CanFam3.1 37 g.30883950G>A c.585G>A p.W195* 2014 24953404 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001977-9615 dog Shetland Sheepdog Progressive retinal atrophy, due to CNGA1 mutations CNGA1 deletion, small (<=20) yes c.1752_1755delAACT 2015 26202106
OMIA 001481-9615 dog German Shepherd Dog Achromatopsia-2 CNGA3 missense yes c.1270C>T p.R424W 2015 26407004
OMIA 001481-9615 dog Labrador Retriever Achromatopsia-2 CNGA3 deletion, small (<=20) yes c.1931_1933delTGG p.V644del 2015 26407004
OMIA 000830-9615 dog Papillon Phalène Progressive retinal atrophy CNGB1 indel, small (<=20) yes 2 c.2685delA2687_2688insTAGCTA p.Tyr889Serfs*5 2013 24015210
OMIA 001365-9615 dog Achromatopsia (cone degeneration, hemeralopia), AMAL CNGB3 deletion, gross (>20) yes "deletion removing all exons of canine CNGB3" 2002 12140185
OMIA 001676-9615 dog German Shorthair Pointer Achromatopsia (cone degeneration, hemeralopia), GSPT CNGB3 missense yes CanFam3.1 19 g.32837065G>A c.784G>A p.D262N 2002 12140185 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001772-9615 dog Labrador Retriever Skeletal dysplasia 2 (SD2) COL11A2 missense yes CanFam3.1 12 g.2652874G>C c.143G>C p.R48P 2013 23527306 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000754-9615 dog Golden Retriever Osteogenesis imperfecta COL1A1 missense yes c.1276G>C p.G208A 2000 11147834
OMIA 002112-9615 dog Osteogenesis imperfecta, COL1A2-related COL1A2 indel, small (<=20) yes "a mutation in which nucleotides 3991-3994 ("CTAG") were replaced with "TGTCATTGG." The first seven bases of the inserted sequence were identical to nucleotides 4002-4008 of the normal canine COL1A2 sequence. The resulting frameshift changed 30 amino acids and introduced a premature stop codon." 2001 11393792
OMIA 002112-9615 dog Osteogenesis imperfecta, COL1A2-related COL2A1 splicing yes CanFam2 14 g.22845733G>A c.936+1G>A 2017 29036614
OMIA 000710-9615 dog Nephropathy COL4A4 nonsense (stop-gain) yes c.2806C>T p.Q904* 2012 22369189
OMIA 000710-9615 dog Nephropathy COL4A4 nonsense (stop-gain) yes CanFam3.1 25 g.39953906A>T c.115A>T p.K39* 2007 17552442 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001112-9615 dog Nephritis, X-linked COL4A5 deletion, small (<=20) yes a 10 base pair deletion in exon 9 of COL4A5 2008 18931484
OMIA 001112-9615 dog Nephritis, X-linked COL4A5 nonsense (stop-gain) yes CanFam3.1 X g.82196868G>T c.3079G>T p.G1027* 1994 8171024 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001967-9615 dog Muscular dystrophy, Ullrich type COL6A1 nonsense (stop-gain) yes c.289C>T p.Q97* 2015 26438297
OMIA 000341-9615 dog Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) yes CanFam3.1 20 g.40532043 c.4579C>T p.R1527* 2017 28493971 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000341-9615 dog Golden Retriever Epidermolysis bullosa, dystrophic COL7A1 missense yes CanFam3.1 20 g.40538034G>A c.5716G>A p.G1906S 2003 12874109 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001523-9615 dog Oculoskeletal dysplasia 2 COL9A2 deletion, gross (>20) yes a 1,267 bp deletion that eliminates part of the 5’UTR, all of exon 1 and part of intron 1 2010 20686772
OMIA 001522-9615 dog Oculoskeletal dysplasia 1 COL9A3 insertion, small (<=20) yes an insertion of a guanine residue in exon 1 in the COL3 domain of COL9A3 2010 20686772
OMIA 001988-9615 dog Wilson disease, COMMD1 type COMMD1 deletion, gross (>20) yes 10 deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb" 2005 16293123
OMIA 001505-9615 dog Neuronal ceroid lipofuscinosis, 10 CTSD missense yes CanFam 3.1 18 g.46013354G>A c.597G>A p.M199I 2006 16386934 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001505-9615 dog American Bulldog Neuronal ceroid lipofuscinosis, 10 CTSD missense yes CanFam3.1 18 g.46013354G>A c.597G>A p.M199I 2006 16386934 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001786-9615 dog Beagle Intestinal cobalamin malabsorption due to CUBN mutation CUBN deletion, small (<=20) yes CanFam 3.1 2 g.19796293delC c.786delC p.Asp262Glufs*47 2014 24164695
OMIA 001786-9615 dog Border Collie Intestinal cobalamin malabsorption due to CUBN mutation CUBN deletion, small (<=20) yes CanFam3.1 2 g.19974334delC c.8392delC p.Gln2798Argfs*3 2013 23613799
OMIA 002131-9615 dog Methemoglobinaemia, CYB5R3-related CYB5R3 missense yes CanFam3.1 10 g.22832963G>A c.214G>A p.G72S 2017 28963729 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001405-9615 dog Metabolizer of a cognitive enhancer CYP1A2 nonsense (stop-gain) yes CanFam3.1 30 g.37821686 c.1117C>T p. R373* rs852922442 2004 15564884 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001130-9615 dog Australian Cattle Dog Shetland Sheepdog Leucodystrophy CYTB missense yes CanFam3.1 M m.14474G>A c.14474G>A p.V98M 2006 16026996 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002095-9615 dog Epilepsy, generalized myoclonic, with photosensitivity DIRAS1 deletion, small (<=20) yes CanFam3.1 c.564_567delAGAC 2017 28223533
OMIA 001919-9615 dog Cleft palate 1 DLX6 insertion, gross (>20) yes CanFam2.0 14 "2056 bp [LINE-1] insertion . . . within a highly conserved region of DLX6 intron 2 at cfa14.25016716 2014 24699068
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD splicing yes a point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene, such that exon 7 is skipped 1992 1577476
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD splicing yes "a missense mutation in the 5' donor splice site of exon 50 that results in deletion of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein" 2010 20072625
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD deletion, small (<=20) yes deletion of four nucleotides in exon 65, with a reading frame shift predicting a premature stop codon at the site of the deletion 2012 22218699
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD deletion, gross (>20) yes a "deletion encompassing the entire dystrophin [DMD] gene" 1999 10407848
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD deletion, gross (>20) yes "a large deletion of exons 8-29" 2012 22218699
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD insertion, gross (>20) yes "a long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon" 2011 20714321
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD insertion, gross (>20) yes "184 nucleotide [pseudoexon] insertion between exon 19 and exon 20, which results in a premature stop codon at the next codon downstream of the insertion" 2012 22218699
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD inversion yes "an inversion of a 5.4-Mb fragment of the X chromosome, with one break point (BP1) in the DMD gene . . . and a second break point (BP2) in a gene farther toward the centromere, the RPGR gene". 2015 25644216
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD deletion, small (<=20) yes c.6051_6057delTCTCAAT 2016 28028563
OMIA 001081-9615 dog Muscular dystrophy, Duchenne type DMD deletion, small (<=20) yes CanFam3 X g.27606021CanFam3 c.3084delG p.Gly1029AspfsX30 2015 26401335
OMIA 001466-9615 dog Chesapeake Bay Retriever Curly-coated retriever Labrador Retriever Exercise-induced collapse DNM1 missense yes CanFam3.1 9 g.55282762G>T c.767G>T p.R256L 2008 18806795 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000543-9615 dog Anhidrotic ectodermal dysplasia EDA splicing yes c.910-1G>A 2005 16151697
OMIA 001805-9615 dog Amelogenesis imperfecta ENAM deletion, small (<=20) yes c.1991_1995delTTTCC p.Phe665Argfs*3 2013 23638899
OMIA 000363-9615 dog Kerry Blue Terrier Factor XI deficiency F11 insertion, gross (>20) yes "a short interspersed nucleotide element (SINE) insertion" 2006 Reference not in PubMed; see OMIA 000363-9615 for reference details
OMIA 000361-9615 dog Beagle Factor VII deficiency F7 missense yes CanFam3.1 22 g.60578895 c.407G>A p.Gly136Glu 2006 16961583 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000437-9615 dog Haemophilia A F8 splicing yes intronic inversion that results in "aberrant splicing and premature termination" 2002 12008949
OMIA 000437-9615 dog Boxer Haemophilia A F8 missense yes c.1412C>G p.P471R 2014 25040606
OMIA 000437-9615 dog German Shepherd Dog Haemophilia A F8 missense yes c.1643G>A p.C548Y 2014 25040606
OMIA 000437-9615 dog Haemophilia A F8 nonsense (stop-gain) yes CanFam3.1 X g.122973422C>T c.1786C>T p.R596* 2016 27780008 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000437-9615 dog Haemophilia A F8 nonsense (stop-gain) yes CanFam3.1 X g.123043081G>A c.98G>A p.W33* 2011 21949058 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000438-9615 dog Haemophilia B F9 deletion, small (<=20) yes a deletion of bases 772-776 1996 8896410
OMIA 000438-9615 dog Haemophilia B F9 deletion, gross (>20) yes a deletion of the entire gene 1997 9394892
OMIA 000438-9615 dog Haemophilia B F9 deletion, gross (>20) yes a deletion "spanning the entire 5' region of the factor IX gene extending to exon 6" 1999 10544912
OMIA 000438-9615 dog Haemophilia B F9 insertion, gross (>20) yes "An approximately 5 kb insertion disrupted exon 8 of the second breed-variant. This insertion was associated with alternative splicing between a donor site 5' and acceptor site 3' to the normal exon 8 splice junction, with introduction of a new stop codon. The resultant transcript lacked most of the factor IX catalytic domain and 3' untranslated region." 1999 10544912
OMIA 000438-9615 dog Haemophilia B F9 insertion, gross (>20) yes a 1.5kb LINE1 insertion in exon 5 2003 14722728
OMIA 000438-9615 dog Cairn Terrier Haemophilia B F9 missense yes c.1477G>A p.G379E 1989 2481310
OMIA 000438-9615 dog Rhodesian Ridgeback Haemophilia B F9 missense yes CanFam3.1 X g.109530847G>A c.731G>A p.G244E 2011 20303304 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002032-9615 dog Neuropathy, sensory FAM134B inversion yes "6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639" 2016 27527794
OMIA 001918-9615 dog Tibetan spaniel Tibetan Terrier Progressive retinal atrophy, type 3, FAM161A-related FAM161A insertion, gross (>20) yes CanFam2.0 10 g.64974130 A ~230bp insertion containing a 132bp short interspersed nuclear element (SINE), near the splice acceptor site of exon 5 2014 24705771
OMIA 002015-9615 dog Border Collie Dental hypomineralization FAM20C missense yes CanFam3.1 6 g.16452327C>T c.899C>T p.A300V 2016 27187611 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001327-9615 dog Irish Terrier Kromfohrländer Hyperkeratosis, palmoplantar FAM83G missense yes CanFam3.1 5 g.41055619G>C c.155G>C p.R52P 2014 24832243 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001683-9615 dog Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis FAM83H deletion, small (<=20) yes c.977delC p.Pro326Hisfs*258 2012 22253609
OMIA 000366-9615 dog Basenji Fanconi syndrome FAN1 deletion, gross (>20) yes "317 bp of exon 14 were deleted starting at the second exon14 nucleotide and extending into the 3' untranslated region of FAN1" 2011 Reference not in PubMed; see OMIA 000366-9615 for reference details
OMIA 001525-9615 dog Leukocyte adhesion deficiency, type III FERMT3 insertion, small (<=20) yes "12-base pair insertion" 2010 20126836
OMIA 000272-9615 dog Rhodesian Ridgeback Thai Ridgeback Ridge & dermoid sinus FGF3 Ridge allele duplication yes A large ~133,000 bp duplication on chromosome 18, encompassing three FGF genes (FGF3, FGF4, FGF19) and another gene ORAOV1 2007 17906623
OMIA 000187-9615 dog Chondrodysplasia FGF4 insertion, gross (>20) yes a 5kb insertion containing a FGF4 retrogene, i.e. a processed pseudogene of FGF4: The insertion containing the FGF4 retrogene starts at 23,431,136 on CFA18, which is 25Mb away from the complete FGF4 gene, which is located at 48413479-48415205 2009 19608863
OMIA 002133-9615 dog Skeletal dysplasia, FGF4-retrogene-related FGF4 insertion, gross (>20) yes CanFam 3 12 g.33710178_33710179insMF040221 " the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . ." 2017 29073074
OMIA 000187-9615 dog Chondrodysplasia FGF4 insertion, gross (>20) no CanFam 3 12 g.33710178_33710179insMF040221 " the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . ." 2017 29073074
OMIA 000157-9615 dog Intervertebral disc disease, type I FGF4 insertion, gross (>20) yes CanFam 3 12 g.33710178_33710179insMF040221 " the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . ." 2017 29073074
OMIA 000439-9615 dog Long hair FGF5 splicing no g.8193T>A 2013 23384345
OMIA 000439-9615 dog mixed breed Long hair FGF5 missense no CanFam3.1 32 g.4509367G>T c.284G>T p.C95F 2006 16879338 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000439-9615 dog Akita Long hair FGF5 missense no CanFam3.1 32 g.4528639C>T c.578C>T p.A193V 2013 23384345 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001335-9615 dog German Shepherd Dog Renal cystadenocarcinoma and nodular dermatofibrosis FLCN missense yes CanFam3.1 5 g.42186445A>G c.764A>G p.H255R 2003 14532326 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000526-9615 dog Hypomyelination of the central nervous system FNIP2 deletion, small (<=20) yes c.880delA, XM_532705 p.Ile294fsX296 2014 24272703
OMIA 000323-9615 dog Ectodermal dysplasia FOXI3 insertion, small (<=20) yes a 7-bp tandem duplication in exon 1 of FOXI3 2008 18787161
OMIA 000396-9615 dog Fucosidosis, alpha FUCA1 deletion, small (<=20) yes a 14-bp deletion at the 3' end of exon 1 1996 8730282
OMIA 000418-9615 dog Maltese Glycogen storage disease Ia G6PC missense yes c.450G>C p.M121I 1997 9259982
OMIA 000419-9615 dog Glycogen storage disease II GAA nonsense (stop-gain) yes CanFam3.1 9 g1603730G>A c.2237G>A p.W746* 2013 23457621 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000578-9615 dog West Highland White terrier Krabbe disease GALC missense yes c.473A>C p.Y158S 1996 8661004
OMIA 001514-9615 dog Acral mutilation syndrome GDNF regulatory yes "This variant, located 90 kb upstream of the GDNF gene, a highly relevant neurotrophic factor candidate gene, lies in [the last exon of] a long intergenic non-coding RNAs (lincRNA), GDNF-AS." 2016 28033318
OMIA 001208-9615 dog Labrador Retriever Alexander disease GFAP missense yes CanFam3.1 9 g.18572769G>A c.719G>A p.R240H 2016 26486469 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002119-9615 dog Polyneuropathy (LPN2) GJA9 deletion, small (<=20) yes CanFam3.1 15 g.3863524_3863525delAG c.1107_1108delAG p.Glu370AsnfsTer12 2017 28841859
OMIA 000402-9615 dog Gangliosidosis, GM1 GLB1 deletion, small (<=20) yes a deletion of a cytosine in exon 15 that causes a premature stop codon in GLB1 2002 12555949
OMIA 000402-9615 dog Gangliosidosis, GM1 GLB1 insertion, small (<=20) yes a 19 base pair duplication in exon 15 2001 11355658
OMIA 000402-9615 dog Portugese water dog Gangliosidosis, GM1 GLB1 missense yes c.200G>A p.R60H 2000 11032334
OMIA 000078-9615 dog Ataxia, cerebellar GRM1 insertion, gross (>20) yes "a 62-bp truncated retrotransposon insert in exon 8" 2011 21281350
OMIA 000667-9615 dog Brazilian Terrier Mucopolysaccharidosis VII GUSB missense yes CanFam3.1 6 g.740428C>T c.866C>T p.P289L 2012 22815736 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000667-9615 dog German Shepherd Dog Mucopolysaccharidosis VII GUSB missense yes CanFam3.1 6 g.741429G>A c.497G>A p.R166H 1998 9521879 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001374-9615 dog Labrador Myopathy, centronuclear HACD1 insertion, gross (>20) yes g.9459-9460ins236 2005 15829503
OMIA 001561-9615 dog Periodic Fever Syndrome HAS2 insertion, gross (>20) yes "several copies of a the "meatmouth" (CNV-E) duplication upstream of the HAS2 gene" 2011 21437276
OMIA 000703-9615 dog Narcolepsy HCRTR2 splicing yes 12 "G to A transition in the 5' splice junction consensus sequence (position +5, exon 6-intron 6)" 1999 10458611
OMIA 000703-9615 dog Narcolepsy HCRTR2 splicing yes a "G to A transition in the 5' splice junction consensus sequence (position +5, exon 6-intron 6)" 1999 10458611
OMIA 000703-9615 dog Dachshund Narcolepsy HCRTR2 missense yes CanFam3.1 12 g.22517939G>A c.160G>A p.E54K 2001 11282968 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001944-9615 dog Spondylocostal dysostosis, autosomal recessive HES7 deletion, small (<=20) yes CanFam 3.1 5 g.32945846 c.126delG p.(Thr43ProfsTer24) 2015 25659135
OMIA 001461-9615 dog Japanese Chin dog Gangliosidosis, GM2, type I (B variant) HEXA missense yes c.967G>A p.E323K 2013 23266199
OMIA 001461-9615 dog Japanese Chin dog Gangliosidosis, GM2, type I HEXA missense yes CanFam3.1 30 g.35841247G>A c.967G>A p.E323K 2013 23266199 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001462-9615 dog Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) yes c.283delG p.V59fsX 2012 22766310
OMIA 001462-9615 dog Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) yes CanFam3.1 2 g.243656_57243658delCCT p.Leu317del 2017 28833537
OMIA 001758-9615 dog Cataract, early onset HSF4 deletion, small (<=20) yes g.85286582delC 2006 16939467
OMIA 001758-9615 dog Cataract, early onset HSF4 insertion, small (<=20) yes g.85286582delC 2006 16939467
OMIA 000664-9615 dog Mucopolysaccharidosis I IDUA splicing yes CanFam3.1 3 g.91534420G>A c.155+1G>A 1992 1339393 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000899-9615 dog Severe combined immunodeficiency disease, X-linked IL2RG deletion, small (<=20) yes a four nucleotide deletion causing a frame shift and subsequent premature termination of the gene coding for the gamma chain of the IL-2 receptor 1994 7829104
OMIA 000899-9615 dog Severe combined immunodeficiency disease, X-linked IL2RG insertion, small (<=20) yes a single nucleotide insertion causing a frameshift 1995 8571541
OMIA 001675-9615 dog Cone-rod dystrophy 2 IQCB1 insertion, small (<=20) yes CanFam 2 33 g.28120686-28120687 c.952-953insC p.S319IfsX12 2013 24045995
OMIA 001886-9615 dog Chondrodysplasia, disproportionate short-limbed ITGA10 nonsense (stop-gain) yes c.2083C>T p.R695* 2013 24086591
OMIA 001000-9615 dog Thrombasthenia ITGA2B splicing yes "a 14-base insertion in exon 13 and defective splicing of intron 13" 2000 11105947
OMIA 001000-9615 dog Scottish Deerhound Thrombasthenia ITGA2B missense yes c.1100G>C p.D367H 2001 11703027
OMIA 000595-9615 dog Irish Setter Leukocyte adhesion deficiency, type I ITGB2 missense yes CanFam3.1 31 g.38537012G>C c.107G>C p.C36S 1999 10512685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002097-9615 dog Ataxia, spinocerebellar ITPR1 complex rearrangement yes Forman et al. (2015) identified an expanded GAA-repeat in intron 35 of the ITPR1 gene in affected dogs. The wildtype sequence contains 8 GAA repeats. The expanded disease-associated alleles carry an estimated 318-651 GAA repeats. 2015 25354648
OMIA 000809-9615 dog Polycythemia JAK2 complex rearrangement yes c.1849G>T, c.1852T>C, c.1853G> p.V617F, p.C618L a three-base change in codons 617 and 618 of JAK2 giving rise to V617F and C618L 2011 21320566
OMIA 001820-9615 dog Parson Russell Terrier Ataxia, spinocerebellar KCNJ10 missense yes c.344G>A p.C115Y 2013 23741357
OMIA 001820-9615 dog Russell Terrier Spinocerebellar ataxia with myokymia, seizures, or both KCNJ10 missense yes c.627C>G p.I209M 2014 24708069
OMIA 001820-9615 dog Malinois Ataxia, spinocerebellar KCNJ10 missense yes c.986T>C p.L329P 2017 27966545
OMIA 002089-9615 dog Ataxia, cerebellar, KCNJ10-related KCNJ10 insertion, small (<=20) yes g.22141027insC 2016 27724896
OMIA 001737-9615 dog Coat colour, white spotting, KIT-related KIT insertion, small (<=20) no "a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2." 2013 23134432
OMIA 001737-9615 dog Coat colour, white spotting, KIT-related KIT deletion, small (<=20) no c.1960_1962delCTC p.Leu654del 2013 23659249
OMIA 001516-9615 dog Gastrointestinal stromal tumor KIT deletion, small (<=20) yes NC_006595.2 g.50110838_50110843delAGTGGA 2010 20950418
OMIA 001516-9615 dog Gastrointestinal stromal tumor KIT deletion, small (<=20) yes NC_006595.2 g.50110841_50110846delGGAAGG 2010 20950418
OMIA 001787-9615 dog Squamous cell carcinoma of the digit KITLG repeat variation yes a copy number variant (CNV) of KITLG 2013 23555311
OMIA 000819-9615 dog Shih-Tzu Prekallikrein deficiency KLKB1 missense yes CanFam3.1 16 g.44501415T>A c.988T>A p.F330I 2011 20736516 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001415-9615 dog Hyperkeratosis, epidermolytic KRT10 splicing yes "a single base GT>TT change in the consensus donor splice site of intron 5" 2005 16029326
OMIA 002088-9615 dog Dogue de Bordeaux Palmoplantar keratoderma, nonepidermolytic, focal 1 KRT16 complex rearrangement yes p.Glu392* 2015 25521457
OMIA 000245-9615 dog Portugese water dog Curly coat KRT71 missense no c.451C>T p.R151W 2009 19713490
OMIA 001371-9615 dog L-2-hydroxyglutaricacidemia L2HGDH complex rearrangement yes "two single‐nucleotide substitutions separated by a single invariant T nucleotide in exon 10 (c[1297T→C; 1299c→t]; p[Leu433Pro; His434Tyr])" 2007 17475916
OMIA 001371-9615 dog L-2-hydroxyglutaricacidemia L2HGDH regulatory yes c.1A>G p.Met1? 2012 22843824
OMIA 001677-9615 dog Epidermolysis bullosa, junctionalis, LAMA3 LAMA3 insertion, gross (>20) yes "insertion (4818+207ins6.5 kb) of repetitive satellite DNA within intron 35 of the gene (LAMA3)" 2005 15737193
OMIA 002031-9615 dog Lundehund Lundehund syndrome LEPREL1 missense yes 34 g.139212C>G 2016 27485430
OMIA 001596-9615 dog Epilepsy, benign familial juvenile LGI2 nonsense (stop-gain) yes c.1552A>T p.K518* 2011 21829378
OMIA 000307-9615 dog Pituitary dwarfism LHX3 insertion, small (<=20) yes NM_001197187 c.545_547dupACA p.N182dup 2011 22132174
OMIA 000307-9615 dog Dwarfism, pituitary LHX3 splicing yes NM_001197187 9 c.622-37-31del "a deletion of one of six 7 bp repeats in intron 5 of LHX3" 2011 22132174
OMIA 002071-9615 dog Labrador Retriever Macular corneal dystrophy LOC489707 missense yes CanFam3.1 5 g.75279699C>A c.814C>A p.R272S 2016 26585178 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001928-9615 dog Labrador Retriever Myasthenic syndrome, congenital LOC608697 missense yes c.1010T>C p.I337T 2014 25166616
OMIA 001495-9615 dog Afghan Hound Saluki Grizzle MC1R missense no c.233G>T p.G78V 2010 20525767
OMIA 001199-9615 dog Red/yellow coat MC1R nonsense (stop-gain) no c.916C>T p.R306* 2000 10602988
OMIA 001590-9615 dog Black melanistic mask MC1R missense no CanFam3.1 5 g.63694460A>G c.790A>G p.M264V rs24201590 2003 12692165 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001932-9615 dog Progressive retinal atrophy, MERTK-related MERTK insertion, gross (>20) yes CanFam 3.1 17 g.36338043-36338057ins An insertion of "a full-length [6.401 kb] LINE-1 element comprising the 15 bp target site duplication [indicated by 'ins' in the g. notation], a 5’UTR, 900 bp 5’ ORF1, a 49 bp intergenic spacer, a 3,828 bp 3’ ORF2, a 3’UTR and poly(A) tail. The LINE-1 element has been inserted in the same orientation as the MERTK gene.". 2017 28813472 Genomic location provided by Sally Ricketts
OMIA 000715-9615 dog Neuroaxonal dystrophy MFN2 deletion, small (<=20) yes c.1617_1619delGGA p.Q539del 2011 21643798
OMIA 001962-9615 dog Neuronal ceroid lipofuscinosis, 7 MFSD8 deletion, small (<=20) yes c.843delT p.F282Lfs*13 2015 25551667 Breed and p. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 000214-9615 dog Coat colour, white spotting MITF regulatory no three possible regulatory variants 2007 17906626
OMIA 000031-9615 dog Alopecia, colour mutant MLPH splicing yes CanFam3.1 25 g.48121642G>A c.-22G>A 2007 17519392 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002028-9615 dog Myeloperoxidase deficiency MPO nonsense (stop-gain) yes c.1987C>T p.R663* 2016 27296514
OMIA 000683-9615 dog Whippet Muscular hypertrophy (double muscling) MSTN deletion, small (<=20) yes 37 a two-base-pair deletion in the third exon of MSTN leading to a premature stop codon at amino acid 313 2007 17530926
OMIA 001561-9615 dog Shar-Pei Periodic Fever Syndrome MTBP missense yes CanFam3.1 13 g.19383758G>A c.2623G>A p.E875K ss2136554981 2017 28472921 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001508-9615 dog Australian Cattle Dog Myotubular myopathy 1 MTM1 missense yes c.1151A>C p.Q384P 2015 25664165
OMIA 001508-9615 dog Labrador Retriever Myotubular myopathy 1 MTM1 missense yes c.465C>A p.N155K 2010 20682747
OMIA 001608-9615 dog Pug May-Hegglin anomaly MYH9 missense yes p.Q1841L 2011 21554370
OMIA 002120-9615 dog Polyneuropathy NDRG1 deletion, small (<=20) yes c.1080_1089del10 2010 20582309
OMIA 002120-9615 dog Alaskan Malamute Polyneuropathy NDRG1 missense yes CanFam3.1 13 g.29714606G>T c.293G>T p.G98V 2013 23393557 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000218-9615 dog Collie eye anomaly NHEJ1 deletion, gross (>20) yes CanFam2 37 g.28697542-28705340del7799 a deletion of 7.8kb in the NHEJ1 gene 2007 17916641
OMIA 000690-9615 dog Myoclonus epilepsy of Lafora NHLRC1 repeat variation yes 19 to 26 copies of a sequence of 12 nucleotides (12-mer; dodecamer) in the canine EPM2B gene (now called NHLRC1) 2005 15637270
OMIA 001980-9615 dog American Bulldog Ichthyosis, NIPAL4-related NIPAL4 deletion, small (<=20) yes CanFam3.1 4 g.52737379delC 2017 28122049
OMIA 000938-9615 dog Spinal dysraphism NKX2-8 indel, small (<=20) yes p.A150VfsX1 2013 23874236
OMIA 001455-9615 dog Cone-rod dystrophy, Standard Wire-haired Dachshund NPHP4 deletion, gross (>20) yes "a 180-bp deletion in exon/intron 5 of NPHP4 (nephronophthisis 4, also known as nephroretinin)" 2008 18687878
OMIA 002117-9615 dog Labrador Retriever CHILD-like syndrome NSDHL deletion, gross (>20) yes CanFam3.1 X g.120,749,179_120,763,577del14 2017 28739597
OMIA 002130-9615 dog Coat colour, oculocutaneous albinism, OCA2-related OCA2 splicing yes CanFam3.1 3 g.31715704A>C "LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G) . . . Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1)." 2017 28973042
OMIA 001564-9615 dog Bleeding disorder, P2RY12-related P2RY12 deletion, small (<=20) yes "a 3 base-pair deletion predicted to result in elimination of a serine from the extracellular domain was identified in the gene encoding P2RY12" 2011 21554368
OMIA 001314-9615 dog Rod-cone dysplasia 3 PDE6A deletion, small (<=20) yes c.1940delA p.Asn616fs "deletion of a single base in codon 616 of the gene for the alpha subunit of cyclic guanosine monophosphate (cGMP) phosphodiesterase (PDE6A), which is "predicted to lead to a frame shift resulting in a string of 28 altered codons followed by a premature stop codon" 1999 10393029 Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 001669-9615 dog Rod-cone dysplasia 1a PDE6B insertion, small (<=20) yes "an 8-bp insertion after codon 816" of the PDE6B gene 2000 11124530
OMIA 001674-9615 dog Cone-rod dystrophy 1 PDE6B deletion, small (<=20) yes CanFam 2 3 g.94574289_94574291 c.2404_2406del p.802del 2013 24045995
OMIA 000882-9615 dog Rod-cone dysplasia 1 PDE6B nonsense (stop-gain) yes CanFam3.1 3 g.91747713G>A c.2421G>A p.W807* 1993 8387203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001406-9615 dog Pyruvate dehydrogenase deficiency PDP1 nonsense (stop-gain) yes c.754C>T p.Q252* 2007 17095275
OMIA 000421-9615 dog Glycogen storage disease VII PFKM nonsense (stop-gain) yes c.2228G>A p.W???* 1996 8702726
OMIA 000421-9615 dog Wachtelhund Glycogen storage disease VII PFKM missense yes c.550C>T p.R184W 2012 22446493
OMIA 002084-9615 dog Soft Coated Wheaten Terrier Dyskinesia, paroxysmal, PIGN PIGN missense yes CanFam3.1 1 g.14705240C>T c.398C>T p.T133I 2016 27891564 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000807-9615 dog Bull Terrier Polycystic kidney disease PKD1 missense yes CanFam3.1 6 g.38856816G>A c.9559G>A p.E3187K rs397509460 2011 21818326 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000844-9615 dog Basenji Pyruvate kinase deficiency of erythrocyte PKLR deletion, small (<=20) yes a single base-pair deletion in exon 5 of the gene encoding R-type pyruvate kinase (PKLR) 1994 7520391
OMIA 000844-9615 dog West Highland White terrier Pyruvate kinase deficiency of erythrocyte PKLR insertion, small (<=20) unknown a 6 base pair insertion in exon 10 1999 10490091
OMIA 000844-9615 dog Labrador Retriever Pyruvate kinase deficiency of erythrocyte PKLR nonsense (stop-gain) yes c.799C>T p.Q267* 2012 22805166
OMIA 000844-9615 dog Pug Pyruvate kinase deficiency of erythrocyte PKLR missense yes c.848T>C p.V283A 2012 22805166
OMIA 000844-9615 dog Beagle Pyruvate kinase deficiency of erythrocyte PKLR missense yes c.994G>A p.G332S 2012 22805166
OMIA 001864-9615 dog Ectodermal dysplasia/skin fragility syndrome PKP1 splicing yes CanFam3.1 7 g.1966531G>C c.202+1G>C 2012 22384142 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002105-9615 dog Papillon Neuroaxonal dystrophy, PLA2G6-related PLA2G6 missense yes CanFam3.1 10 g.26544820G>A c.1579G>A p.T527A 2017 28107443 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002080-9615 dog Epidermolysis bullosa, simplex, PLEC PLEC nonsense (stop-gain) yes CanFam3.1 13 g.37461941G>A c.3614G>A p.W1205* 2016 27878870 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002020-9615 dog Ligneous membranitis PLG splicing yes c.1256+2T>A 2015 26360520
OMIA 000770-9615 dog Springer Spaniel Tremor, X-linked PLP1 missense yes CanFam3.1 X g.77200833A>C c.110A>C p.H37P 1990 1723945 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000211-9615 dog Coat colour, merle PMEL insertion, gross (>20) yes "an insertion of a tRNA-derived SINE . . . . The insertion occurs at the boundary of intron 10 and exon 11 and is flanked by a 15-bp target site duplication . . . . The SINE insertion is in reverse orientation, with the 5' end closer to exon 11." 2006 16407134
OMIA 001588-9615 dog Ichthyosis, PNPLA1-related PNPLA1 indel, small (<=20) yes c.1445_1447delinsTACTACTA p.N482Ifs*11 2012 22246504
OMIA 001258-9615 dog Labrador Retriever Obesity POMC deletion, small (<=20) yes CanFam3.1 17 g.19431807_19431821del p.E188fs 2016 27157046
OMIA 001504-9615 dog Neuronal ceroid lipofuscinosis, 1 PPT1 insertion, small (<=20) yes c.736-737insC p.F246Lfs*29 2010 20494602 p. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 001504-9615 dog Neuronal ceroid lipofuscinosis, 1 PPT1 splicing yes CanFam3.1 15 g.2860424 c.124 + 1G>A 2016 28008682
OMIA 001298-9615 dog American cocker spaniel Australian Cattle Dog Australian Shepherd Australian stumpy tail cattle dog Chesapeake Bay Retriever Chinese Crested Dog English Cocker Spaniel Entlebucher mountain dog Finnish Lapphund Golden Retriever Karelian bear dog Kuvasz Labrador Retriever Lapponian Herder Miniature Poodle Norwegian Elkhound Nova Scotia Duck Tolling retriever Portugese water dog Spanish water dog Swedish Lapphund Toy Poodle Yorkshire Terrier Progressive rod-cone degeneration PRCD missense yes CanFam3.1 9 g.4188663G>A c.5G>A p.C2Y 2006 16938425 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000220-9615 dog Severe combined immunodeficiency disease, autosomal PRKDC nonsense (stop-gain) yes c.10879G>T p.E3627* 2002 11867233
OMIA 001454-9615 dog Great Dane Harlequin PSMB7 missense no c.146T>G p.V6G 2011 21256207
OMIA 001515-9615 dog Colorectal hamartomatous polyposis and ganglioneuromatosis PTEN insertion, gross (>20) yes "Duplication of PTEN" 2011 20952721
OMIA 001913-9615 dog Gordon Setter Old English Sheepdog Ataxia, cerebellar, in Old English Sheepdogs and Gordon Setters RAB24 missense yes CanFam3.1 4 g.36055678A>C c.113A>C p.Q38P 2014 24516392 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001970-9615 dog Polyneuropathy, ocular abnormalities and neuronal vacuolation RAB3GAP1 insertion, gross (>20) yes a 218 bp SINE insertion into exon 7 of the RAB3GAP1 gene (RAB3GAP1:c.614_615insLN864704:g.123_340) 2015 26596647
OMIA 001970-9615 dog Polyneuropathy, ocular abnormalities and neuronal vacuolation RAB3GAP1 deletion, small (<=20) yes c.743delC 2016 26607784
OMIA 001574-9615 dog Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive RAG1 nonsense (stop-gain) yes CanFam3.1 18 g.31631772G>T c.2893G>T p.E965* 2011 21293384 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001806-9615 dog Coat colour, black-and-tan RALY insertion, small (<=20) no g.1875_1890dupCCCCAGGTCAGAGTTT 2013 23519866
OMIA 001003-9615 dog Eskimo Spitz Thrombopathia RASGRP1 insertion, small (<=20) yes c.452-453insA 2007 17656327
OMIA 001003-9615 dog Landseer Thrombopathia RASGRP1 nonsense (stop-gain) yes c.982C>T p.R328* 2007 17656327
OMIA 001003-9615 dog Basset Hound Thrombopathia RASGRP1 deletion, small (<=20) yes g.509510511delTCT 2008 18922051
OMIA 001260-9615 dog Collie Rod-cone dysplasia 2 RD3 insertion, gross (>20) yes "22 bp insertion changes the last 61 amino acids of the encoded protein" 2009 19130129
OMIA 001346-9615 dog English Mastiff Autosomal dominant PRA RHO missense yes CanFam3.1 20 g.5637394C>G c.11C>G p.T4R 2002 11972042 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001222-9615 dog Leber congenital amaurosis (congenital stationary night blindness) RPE65 deletion, small (<=20) yes 4bp deletion in RPE65 1998 9808841
OMIA 000831-9615 dog Progressive retinal atrophy, X-linked, type 1 RPGR deletion, small (<=20) yes a "five-nucleotide deletion (delGAGAA) between 1028 and 1032" in the canine RPGR gene 2002 11978759
OMIA 001518-9615 dog Progressive retinal atrophy, X-linked, type 2 RPGR deletion, small (<=20) yes "a two-nucleotide deletion (delGA) in 1084-1085" in the canine RPGR gene 2002 11978759
OMIA 000831-9615 dog Progressive retinal atrophy, X-linked, type 1 RPGR deletion, gross (>20) yes "a large deletion [maximum size 5,006 bp] comprising the first four exons of the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene" 2016 27398221
OMIA 001432-9615 dog Cone-rod dystrophy 4 RPGRIP1 insertion, gross (>20) yes a 44-bp insertion in exon 2 of the RPGRIP1 gene 2006 16806805
OMIA 001531-9615 dog Furnishings (moustache and eyebrows) RSPO2 insertion, gross (>20) no a 167bp insertion "within the 3'UTR at position 11,634,766", which leads to a threefold increase in transcription of RSPO2 in muzzle skin of dogs with furnishings 2009 19713490
OMIA 001498-9615 dog Improper coat RSPO2 insertion, gross (>20) yes "167 bp 3' UTR insertion in RSPO2" 2010 20562213
OMIA 000621-9615 dog Malignant hyperthermia RYR1 missense yes p.V547A 2001 11575546
OMIA 001876-9615 dog Progressive retinal atrophy, Basenji SAG extension (stop-lost) yes CanFam3.1 25 g.44843440T>C c.1216T>C p.*405Rext*25 2013 24019744 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002016-9615 dog Van den Ende-Gupta syndrome SCARF2 deletion, small (<=20) yes c.865_866delTC p.S289Gfs*15 2016 27187611
OMIA 001692-9615 dog Finnish Hound Ataxia, cerebellar, progressive early-onset SEL1L missense yes CanFam3.1 8 g.53778458T>C c.1972T>C p.S658P 2012 22719266 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001483-9615 dog Dachshund Osteogenesis imperfecta_Dachshund SERPINH1 missense yes c.977T>C p.L326P 2009 19629171
OMIA 001483-9615 dog Dachshund Osteogenesis imperfecta_Dachshund SERPINH1 missense yes CanFam3.1 21 g.23033735T>C c.977T>C p.L326P 2009 19629171 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002122-9615 dog Boston Terrier Muscular dystrophy, limb-girdle, type 2F SGCD deletion, small (<=20) yes CanFam3.1 4 c.534_535delGA 2017 28702169
OMIA 002122-9615 dog Boston Terrier Muscular dystrophy, limb-girdle, type 2F SGCD indel, gross (>20) yes CanFam3.1 4 g.53262018_53262020delinsCC; g g.53262018_53262020delinsCC; g.53262030_53281432del 2017 28702169
OMIA 001279-9615 dog Hypotrichosis, recessive SGK3 deletion, small (<=20) yes CanFam3.1 29 g.16366702_16366705delTTAG p.Val96GlyfsTer50 2017 27994129
OMIA 001309-9615 dog Mucopolysaccharidosis IIIA SGSH insertion, small (<=20) yes c.708-709insC 2002 11829484
OMIA 001315-9615 dog Osteochondrodysplasia SLC13A1 deletion, gross (>20) yes a 130kb deletion which "ablated all but the first exon of SLC13A1" 2012 23300579
OMIA 001097-9615 dog Necrotising encephalopathy, subacute, of Leigh SLC19A3 insertion, small (<=20) yes c.624 insTTGC 2013 23469184
OMIA 001973-9615 dog Great Dane Ichthyosis, SLC27A4-related SLC27A4 splicing yes CanFam3.1 9 g.8684G>A c.1250G>A 2015 26506231
OMIA 001033-9615 dog Dalmatian Urolithiasis SLC2A9 missense yes CanFam3.1 3 g.69456869G>T c.563G>T p.C188F 2008 18989453 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000236-9615 dog Craniomandibular osteopathy SLC37A2 splicing yes CanFam3.1 9 g.9387327 c.1332C>T p. Asp444Asp 2016 27187611 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001879-9615 dog Cystinuria, type II - A SLC3A1 deletion, small (<=20) yes c.1095_1100del p.Thr366_Thr367del 2013 24001348
OMIA 000256-9615 dog Cystinuria, type I - A SLC3A1 deletion, small (<=20) yes c.350delG p.(Gly117Alafs*41) 2013 24001348
OMIA 000256-9615 dog Cystinuria, type A SLC3A1 nonsense (stop-gain) yes c.663C>T p.R198* 2000 11129328
OMIA 001821-9615 dog Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, gross (>20) yes "a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4[ratio]77,062,968-77,067,051)" (g.27141_31223del; CanFam2.0) 2014 24647637
OMIA 001821-9615 dog Lhasa Apso mixed breed Pekingese Pomeranian Coat colour, albinism, oculocutaneous type IV SLC45A2 missense yes c.1478G>A p.G493D 2015 25790827
OMIA 001821-9615 dog Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, small (<=20) yes CanFam3.1 4 g.73864860delC c.1287delC p.Met430CysfsTer4 2017 28737247
OMIA 001572-9615 dog Golden Retriever PRA 1 SLC4A3 insertion, small (<=20) yes 37 g.29147633 c.2601_2602insC 2011 21738669
OMIA 001594-9615 dog Hyperekplexia (Startle disease) SLC6A5 deletion, gross (>20) yes "a homozygous 4.2kb microdeletion encompassing exons 2 and 3 " 2011 21420493
OMIA 001880-9615 dog Miniature Pinscher Cystinuria, type II - B SLC7A9 missense yes c.964G>A p.G322R 2013 24001348
OMIA 001551-9615 dog Brachycephaly SMOC2 insertion, gross (>20) yes "a long interspersed nuclear element (LINE-1) within the SPARC-related modular calcium binding (SMOC2) gene" 2017 28552356
OMIA 002034-9615 dog Cerebellar cortical degeneration, Hungarian Vizsla SNX14 splicing yes CanFam3.1 12 g.45530566 c.2653 + 1G > A 2016 27566131
OMIA 000263-9615 dog Bernese Mountain dog Degenerative myelopathy SOD1 missense yes c.52A>T p.T18S 2011 21628865
OMIA 000263-9615 dog Boxer Chesapeake Bay Retriever German Shepherd Dog Pembroke Welsh Corgi Rhodesian Ridgeback Degenerative myelopathy SOD1 missense yes CanFam3.1 31 g.26540342G>A c.100G>A p.E34K rs853026434 2009 19188595 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001403-9615 dog Pancreatitis, hereditary SPINK1 complex rearrangement yes a poly T insertion in the third intron that was near the boundary of exon 3 (IVS3+26-27ins(T)33-39,15_61dup11) 2010 20433378
OMIA 001318-9615 dog mixed breed Elliptocytosis SPTB missense yes p.T2110M 2009 19228356
OMIA 002092-9615 dog Ataxia, spinocerebellar, SPTBN2-related SPTBN2 deletion, small (<=20) yes p.G1952insRDRGQGRPLLLMHRHGAGAA 2012 22781464
OMIA 001297-9615 dog Early retinal degeneration STK38L insertion, gross (>20) yes "a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts" 2010 20887780
OMIA 000878-9615 dog Arrhythmogenic right ventricular cardiomyopathy STRN deletion, small (<=20) yes CanFam2.0 17 g.32373916_32373923del8 2010 20596727
OMIA 001373-9615 dog Labrador Retriever Nasal parakeratosis SUV39H2 missense yes c.972T>G p.N324K 2013 24098150
OMIA 000975-9615 dog Pembroke Welsh Corgi Bob tail T missense yes CanFam3.1 1 g.54192143C>G c.189C>G p.I63M 2001 11252170 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001975-9615 dog Spanish water dog Neuroaxonal dystrophy, juvenile TECPR2 missense yes CanFam3.1 8 g.70433320C>T c.4009C>T p.R1337W 2015 26555167 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000546-9615 dog Ichthyosis TGM1 insertion, gross (>20) yes a LINE-1 insertion in the TGM1 gene 2009 19438474
OMIA 000620-9615 dog Histiocytosis, malignant TP53 insertion, small (<=20) yes 5 c.446_447insAT p.Tyr150SerfsX8 2017 28867679
OMIA 000536-9615 dog Hypothyroidism TPO regulatory yes an insertion of an 8-nt poly-G tract that necessitates an alternative translation initiation site 2013 23223904
OMIA 000536-9615 dog Tenterfield Terrier Hypothyroidism TPO missense yes c.1777C>T p.R593W 2012 23113744
OMIA 000536-9615 dog Hypothyroidism TPO splicing yes 17 g.801598 c.2242 + 2T>C 2015 26478542
OMIA 000536-9615 dog Hypothyroidism TPO nonsense (stop-gain) yes CanFam3.1 17 g.784624C>T c.331C>T p.Q111* 2003 12564727 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001472-9615 dog Neuronal ceroid lipofuscinosis, 2 TPP1 deletion, small (<=20) yes c.325delC p.A108Pfs*6 2006 16621647 p. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 001001-9615 dog Norfolk terrier Thrombocytopaenia TUBB1 missense yes c.5G>A p.R2H 2014 25060661
OMIA 001001-9615 dog King Charles Spaniel Thrombocytopaenia TUBB1 missense yes c.745G>A p.D249N 2008 18466252
OMIA 001249-9615 dog Brown TYRP1 b^c missense no CanFam3.1 11 g.33317810C>T c.121A>T p.C41S 2002 12140685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001249-9615 dog Brown TYRP1 nonsense (stop-gain) no CanFam3.1 11 g.33319349T>G c.555T>G p.Tyr185* 2017 28497851
OMIA 001249-9615 dog Brown TYRP1 b^s nonsense (stop-gain) no CanFam3.1 11 g.33326685C>T c.991C>T p.Q331* rs850566878 2002 12140685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001249-9615 dog Brown TYRP1 b^d deletion, small (<=20) no CanFam3.1 11 g.33326727_33326729del c.1033_1035del p.Pro345del rs851422848 2002 12140685
OMIA 001431-9615 dog Vitamin D-deficiency rickets, type II VDR splicing yes "A unique single base deletion (guanine) was identified at the exon 4-intron junction" 2009 19909429
OMIA 001947-9615 dog Eurasier Cerebellar hypoplasia, VLDLR-associated VLDLR deletion, small (<=20) yes c.1713delC p.W572Gfs*10 2015 25668033
OMIA 001428-9615 dog Trapped Neutrophil Syndrome VPS13B deletion, small (<=20) yes g.4411950_4411953delGTTT 2011 21605373
OMIA 001058-9615 dog Von Willebrand disease III VWF splicing yes "a G>A base substition at the first position of the donor splice site sequence of intron 16" 1998 9716162
OMIA 001058-9615 dog Von Willebrand disease III VWF deletion, small (<=20) yes "a single base deletion in the codon for amino acid 85 of the prepro-vWF cDNA" 2000 10668811
OMIA 001339-9615 dog Chinese Crested Dog German Shorthair Pointer German Wirehaired Pointer Von Willebrand disease II VWF missense yes CanFam3.1 27 g.38887211T>G c.1657T>G p.Trp553Gly 2017 28696025 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001339-9615 dog German Shorthair Pointer German Wirehaired Pointer Von Willebrand disease II VWF missense yes CanFam3.1 27 g.38924099A>G c.4937A>G p.Asn1646Ser rs852456570 2004 15133170 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001057-9615 dog Von Willebrand disease I VWF splicing yes CanFam3.1 27 g.38951839G>A c.7437G>A p.Ser2479Ser 2013 23911791 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Overall Statistics
Total number of variants 319
Variants with genomic location 125 (39.2% )
Variants in a variant database, i.e. with rs ID 9 (2.8%)
Variant Type Count Percent
complex rearrangement 6 1.9%
deletion, gross (>20) 21 6.6%
deletion, small (<=20) 60 18.8%
duplication 1 0.3%
extension (stop-lost) 1 0.3%
indel, gross (>20) 1 0.3%
indel, small (<=20) 4 1.3%
insertion, gross (>20) 29 9.1%
insertion, small (<=20) 27 8.5%
inversion 2 0.6%
missense 98 30.7%
nonsense (stop-gain) 33 10.3%
regulatory 6 1.9%
repeat variation 2 0.6%
splicing 28 8.8%
Year First Reported Count Percent
1989 1 0.3%
1990 1 0.3%
1991 0 0.0%
1992 2 0.6%
1993 1 0.3%
1994 3 0.9%
1995 1 0.3%
1996 4 1.3%
1997 2 0.6%
1998 4 1.3%
1999 9 2.8%
2000 8 2.5%
2001 7 2.2%
2002 12 3.8%
2003 6 1.9%
2004 4 1.3%
2005 11 3.4%
2006 12 3.8%
2007 16 5.0%
2008 8 2.5%
2009 11 3.4%
2010 22 6.9%
2011 29 9.1%
2012 22 6.9%
2013 30 9.4%
2014 14 4.4%
2015 26 8.2%
2016 21 6.6%
2017 32 10.0%