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198 variant records found |
[show instead phene records] |
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | OMIA Phene-Species ID(s) | Species Name | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Deleterious? | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1322 | OMIA:001402-9685 | domestic cat | Balinese (Cat) Domestic Longhair Domestic medium-haired Domestic Shorthair Maine Coon (Cat) Maine Coon Polydactyl (Cat) Ragdoll (Cat) Russian Blue (Cat) Siamese (Cat) Turkish Angora (Cat) | Adverse reaction to certain drugs | ABCB1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | A2 | g.93144355_93144356del | c.1930_1931del | NM_001171064.2; published as ABCB1:1930_1931delTC; resuling in a frameshift generating a series of stop codons immediately downstream from the deletion. The protein product is predicted to be severely truncated (~50%) and non functional (Mealey and Burke, 2015). | 2015 | 25660379 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:34125616 and PMID:35709088 | |||
| 1073 | OMIA:000388-9685 | domestic cat | Domestic Shorthair | Fibrodysplasia ossificans progressiva | ACVR1 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | C1 | g.150014354C>T | c.617G>A | p.(R206H) | XM_023259334.1; XP_023115102.1 | 2019 | 31007133 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1589 | OMIA:000328-9685 | domestic cat | Domestic Shorthair | Ehlers-Danlos syndrome | ADAMTS2 | delins, small (<=20) | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | A1 | g.90995621dup | c.698dup | p.(Ser235fs*3) | XM_023254116.2; XP_023109884.2 | 2023 | 37462293 | |||
| 1214 | OMIA:001222-9685 | domestic cat | Persian (Cat) | Leber congenital amaurosis | AIPL1 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | E1 | g.940445C>T | c.577C>T | p.(R193*) | XM_023243858.1:c.577C>T | 2016 | 27030474 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770) | ||
| 1292 | OMIA:002316-9685 | domestic cat | American Shorthair (Cat) Exotic Shorthair (Cat) Munchkin (Cat) Scottish Fold (Cat) Sphynx (Cat) | Cardiomyopathy, hypertrophic | ALMS1 | missense | Naturally occurring variant | unknown | Felis_catus_9.0 | A3 | g.92439157G>C | c.7384G>C | p.(G2462R) | cDNA and protein positions have been predicted using Ensemble VEP based on transcript ENSFCAT00000077013.1; variant initially reported in Sphynx cats and in a later study (Akiyama et al., 2023) identified in other breeds. Turba et al., 2023 report additional variants in the vicinity that can result in allele dropout in DNA tests and indicate "the need to verify the correspondence between the g.92439157 C variant frequency and the prevalence of HCM" due to high allele frequency of the variant in Sphynx cats in their study. Seo et al. (2024) also identified this variant frequently in Sphynx cats but reported that the variant "was not associated with the HCM diagnosis in the studied population." | rs5334475133 | 2021 | 33639992 | ||
| 550 | OMIA:002717-9685 | domestic cat | Burmese (Cat) | Brachycephaly | ALX1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.110088245_110088256del | c.497_508del | p.(A166_T169del) | XM_003989090.4; XP_003989139.1; published as c.496delCTCTCAGGACTG | 2016 | 26610632 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1320 | OMIA:000666-9685 | domestic cat | Siamese (Cat) | Mucopolysaccharidosis VI, mild, in L476P/D520N cats | ARSB | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.145138738C>T | c.1558G>A | p.(D520N) | NM_001142259.1; NP_001135731.1; D520N/D520N and L476P/D520N cats have normal growth and appearance. L476P/D520N cats have a very mild MPS VI phenotype (increased incidence of degenerative joint disease). | 1998 | 9421472 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 132 | OMIA:000666-9685 | domestic cat | Domestic Shorthair Siamese (Cat) | Mucopolysaccharidosis VI | ARSB | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.145138869A>G | c.1427T>C | p.(L476P) | NM_001142259.1; NP_001135731.1 | rs5334475159 | 1996 | 8910299 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 1452 | OMIA:002549-9685 | domestic cat | Bengal (Cat) | Coat colour and pattern, charcoal | ASIP | A^Pben | missense | Naturally occurring variant | no | Felis_catus_9.0 | A3 | c.251A>G | p.(Q84R) | variant contributes to A^Pbe haplotype associated with charcoal colour/pattern (in exon 4, not present in Felis_catus_9.0) | 2014 | 25143047 | |||
| 1453 | OMIA:002549-9685 | domestic cat | Bengal (Cat) | Coat colour and pattern, charcoal | ASIP | A^Pben | missense | Naturally occurring variant | no | Felis_catus_9.0 | A3 | c.302A>G | p.(D101G) | variant contributes to A^Pbe haplotype associated with charcoal colour/pattern (in exon 4, not present in Felis_catus_9.0) | 2014 | 25143047 | |||
| 1450 | OMIA:002549-9685 | domestic cat | Bengal (Cat) | Coat colour and pattern, charcoal | ASIP | A^Pben | missense | Naturally occurring variant | no | Felis_catus_9.0 | A3 | g.25086548A>G | c.142T>C | p.(S48P) | NM_001009190.1; NP_001009190.1; variant contributes to A^Pbe haplotype associated with charcoal colour/pattern | 2014 | 25143047 | ||
| 493 | OMIA:000201-9685 | domestic cat | Coat colour, non-agouti (black) | ASIP | a | deletion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | A3 | g.25086566_25086567del | c.123_124del | p.(M42Efs*59) | NM_001009190.1; NP_001009190.1; "a 2 bp deletion in the ASIP gene [at nucleotide positions 123-124]" | rs5334475125 | 2003 | 12620197 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770 | |
| 1451 | OMIA:002549-9685 | domestic cat | Bengal (Cat) | Coat colour and pattern, charcoal | ASIP | A^Pben | missense | Naturally occurring variant | no | Felis_catus_9.0 | A3 | g.25086649C>G | c.41G>C | p.(C14S) | NM_001009190.1; NP_001009190.1; variant contributes to A^Pbe haplotype associated with charcoal colour/pattern | 2014 | 25143047 | ||
| 1309 | OMIA:002325-9685 | domestic cat | Encephalopathy, spongy | ASPA | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E1 | g.13585610C>G | c.859G>C | p.(A287P) | XM_006939957.4; XP_006940019.1 | 2021 | 33779415 | ||||
| 1347 | OMIA:001071-9685 | domestic cat | Wilson disease | ATP7B | missense | Naturally occurring variant | yes | A1 | p.(P550L) | 2020 | 31687873 | ||||||||
| 1590 | OMIA:001071-9685 | domestic cat | Domestic Longhair | Wilson disease | ATP7B | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.19609511T>A | c.3670T>A | p.(W1224R) | XM_023251165.1; XP_023106933.1; variant heterozygous in a single affected cat | 2023 | 37427085 | |||
| 1136 | OMIA:001071-9685 | domestic cat | Wilson disease | ATP7B | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.19611002C>G | c.3890C>G | p.(T1297R) | XM_023251176.1; XM_023251176.1 | 2019 | 30561139 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 384 | OMIA:001244-9685 | domestic cat | Abyssinian (Cat) American Curl (Cat) American Shorthair (Cat) American Wirehair (Cat) Balinese (Cat) Bengal (Cat) Colorpoint Shorthair (Cat) Cornish Rex (Cat) Devon Rex (Cat) Donskoy (Cat) European Shorthair (Cat) Havana (Cat) Highlander (Cat) Maine Coon (Cat) Manx (Cat) Munchkin (Cat) Ocicat (Cat) Oriental Longhair (Cat) Oriental Shorthair (Cat) Peterbald (Cat) Pixiebob Longhair (Cat) Ragdoll (Cat) Scottish Fold (Cat) Siamese (Cat) Singapura (Cat) Somali (Cat) Sphynx (Cat) Tennessee Rex (Cat) Tonkinese (Cat) | Retinal degeneration II | CEP290 | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.112522818A>C | c.7584+9T>G | XM_023256243.1; published as IVS50 + 9T>G. The cat sequenced to generate the Felis_catus_9.0 reference genome is homozygous for the likely causal variant. The genomic and cDNA coordinates had therefore been previously listed in this table as g.112522818TC>A and c.7584+9G>T. The information has been updated based on feedback from 潘旭 to reflect that the likely causal variant is c.7584+9G and that the normal allele is c.7584+9T[6/4/2023]. | 2007 | 17507457 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Variant was initially identified in the Abyssinian and Somali breeds but identified to be present in several other breeds (Menotti-Raymond et al., 2020; Pubmed:19747862; PMID:35709088) | |||
| 1573 | OMIA:000698-9685 | domestic cat | Domestic Longhair | Myotonia | CLCN1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | A2 | NC_018724.3:g.158967085_158967092del | NM_001305027.1:c.428_433+1del | NP_001291956.1:p.(L143Qfs3*) | published as chrA2:15897085‐15897092, coordinates in this table have been verified in Felis_catus_9.0 | 2022 | 35815860 | |||
| 1623 | OMIA:000698-9685 | domestic cat | Myotonia | CLCN1 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A2 | NC_018724.3:g.158976314G>C | NM_001305027.1:c.991G>C | NP_001291956.1:p.(A331P) | 2023 | 37668104 | |||||
| 408 | OMIA:000698-9685 | domestic cat | Myotonia | CLCN1 | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | A2 | NC_018724.3:g.158986498G>T | NM_001305027.1:c.1930+1G>T | 2014 | 25356766 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||||
| 1213 | OMIA:001443-9685 | domestic cat | Domestic medium-haired | Neuronal ceroid lipofuscinosis, 6 | CLN6 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | B3 | g.39334330G>A | c.668G>A | p.(W223*) | ENSFCAT00000025909:c.668G>A; XM_003987007.5:c.668G>A (Katz et al. (2020) | rs5334475122 | 2020 | 32518081 | ||
| 431 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | regulatory | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4934641C>T | published as C-371T | 2007 | 17553163 | ||||||
| 1432 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | regulatory | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4934795G>A | published as G-217A | 2007 | 17553163 | ||||||
| 430 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | insertion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4934941_4934942insAACGAGCAACCGAAGCTG | published as "an indel in the exon 1 5' UTR"; Delta-53; Felis_catus_9.0 represents the deletion allele | 2007 | 17553163 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||||
| 1431 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | missense | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4935345C>T | c.139C>T | p.(R47C) | NM_001244985.1; NP_001231914.1; published as c.136C>T | 2014 | 24697343 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 118 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | missense | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4935348G>A | c.142G>A | p.(V48M) | NM_001244985.1; NP_001231914.1; initially reported as Felis_catus_6.2: B2:4587414G>A; c.139G>A; p.(V47M) | rs5334475157 | 2007 | 17553163 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770) | ||
| 800 | OMIA:000119-9685 | domestic cat | 2019 TYPING PANEL | CMAH | missense | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4935385G>T | c.179G>T | p.(G60V) | NM_001244985.1; NP_001231914.1 | rs5334475140 | 2016 | 27755584 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770) | ||
| 801 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | missense | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4935393A>G | c.187A>G | p.(I63V) | NM_001244985.1; NP_001231914.1 | 2016 | 27755584 | ||||
| 119 | OMIA:000119-9685 | domestic cat | 2019 TYPING PANEL | CMAH | missense | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4938728T>A | c.268T>A | p.(Y90N) | NM_001244985.1; NP_001231914.1; published as c.265T>A (2007); revised designation of c.268T>A was reported by Kehl et al. (2019) | rs5334475138 | 2007 | 17553163 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770) | ||
| 1446 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | missense | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4947482C>A | c.327A>C | p.(E109D) | NM_001244985.1; NP_001231914.1; published as c.327A>C; variant is reported to be not causal for blood type B, but may impact Neu5GC levels (Omi et al.,2016). The Felis_catus_9.0 reference genome represents the C allele, while transcript NM_001244985.1 represents the A allele. | 2016 | 27171395 | ||||
| 799 | OMIA:000119-9685 | domestic cat | Ragdoll (Cat) | 2019 TYPING PANEL | CMAH | missense | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4947519C>T | c.364C>T | p.(P122S) | NM_001244985.1; NP_001231914.1 | rs5334475151 | 2016 | 27171395 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770) | |
| 1413 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | missense | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4953568G>A | c.773G>A | p.(R258Q) | NM_001244985.1; NP_001231914.1 | 2021 | 34589535 | ||||
| 1430 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | deletion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4955359del | c.933del | p.(A312Hfs*6) | NM_001244985.1; NP_001231914.1 | 2018 | 30235335 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 1062 | OMIA:000119-9685 | domestic cat | Ragdoll (Cat) | 2019 TYPING PANEL | CMAH | deletion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4978934del | c.1322del | p.(L441*) | NM_001244985.1; NP_001231914.1; published as c.1322delT | 2018 | 30235335 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 120 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | missense | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.4985762G>A | c.1603G>A | p.(D535N) | NM_001244985.1; NP_001231914.1; also published as c.1600G>A; p.(D534N) | rs5334475141 | 2007 | 17553163 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770) | ||
| 1634 | OMIA:002793-9685 | domestic cat | American Shorthair (Cat) | Epidermolysis bullosa, junctional, COL17A1-related | COL17A1 | splicing | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | D2 | g.62124169del | c.3019+1del | XM_006938156.5; variant reported in a single affected cat | 2023 | 37895184 | ||||
| 1635 | OMIA:002793-9685 | domestic cat | European Shorthair (Cat) | Epidermolysis bullosa, junctional, COL17A1-related | COL17A1 | splicing | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | D2 | g.62149308C>T | c.769+5G>A | p.([=,p.Val257Glyfs*82]) | XM_006938156.5; XP_006938218.3, variant described in a single affected cat | 2023 | 37895184 | |||
| 1696 | OMIA:002165-9685 | domestic cat | Maine Coon (Cat) | classical Ehlers-Danlos syndrome | COL5A1 | deletion, gross (>20) | Naturally occurring variant | yes | F.catus_Fcat126_mat1.0 | D4 | NC_058380.1:g.93561989_93595728del | deletion of 33740 base pairs including the last two exons of COL5A1 | 2024 | 38745376 | |||||
| 1465 | OMIA:002165-9685 | domestic cat | Bombay (Cat) | classical Ehlers-Danlos syndrome | COL5A1 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | D4 | g.93209345T>A | c.3514A>T | p.(Lys1172*) | XM_023242950.1; XP_023098718.1 | 2022 | 35627182 | |||
| 1025 | OMIA:002165-9685 | domestic cat | Domestic Shorthair | classical Ehlers-Danlos syndrome | COL5A1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D4 | g.93210344del | c.3420del | p.(L1141Sfs*134) | XM_023242951.1; XP_023098719.1; published as c.3420delG | 2018 | 30246406 | |||
| 1466 | OMIA:002165-9685 | domestic cat | Domestic Shorthair | classical Ehlers-Danlos syndrome | COL5A1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D4 | g.93215496del | c.3066del | p.(Gly1023Valfs*50) | XM_023242950.1; XP_023098718.1 | 2022 | 35627182 | |||
| 1609 | OMIA:002165-9685 | domestic cat | Domestic medium-haired | classical Ehlers-Danlos syndrome | COL5A1 | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | D4 | g.93290016T>G | c.501-2A>C | XM_023242950.1 | 2023 | 37594181 | ||||
| 1464 | OMIA:002165-9685 | domestic cat | Bengal (Cat) | classical Ehlers-Danlos syndrome | COL5A1 | deletion, gross (>20) | Naturally occurring variant | yes | Felis_catus_9.0 | D4 | g.93331577_93331598del | c.112_118+15del | r.spl? | XM_023242950.1 | 2022 | 35627182 | |||
| 944 | OMIA:001621-9685 | domestic cat | Devon Rex (Cat) Sphynx (Cat) | Muscular dystrophy-dystroglycanopathy (limb-girdle) | COLQ | missense | Naturally occurring variant | yes | Felis_catus_9.0 | C2 | g.135068287C>T | c.1190G>A | p.(C397Y) | rs869320615 | 2015 | 26327126 26374066 | Genomic location obtained via Ensembl's VEP | ||
| 1463 | OMIA:002159-9685 | domestic cat | British Shorthair (Cat) | Copper (British recessive wideband) | CORIN | vwb^BSH | nonsense (stop-gain) | Naturally occurring variant | no | Felis_catus_9.0 | B1 | c.2425C>T | p.(R809*) | ON640807 | 2022 | 35703390 | |||
| 1456 | OMIA:002159-9685 | domestic cat | Siberian (Cat) | Extreme sunshine (Siberian recessive extreme wideband) | CORIN | vwb^eSIB | missense | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.167737406G>A | c.839G>A | p.(C280Y) | XM_019829549.2; XP_019685108.1; reported as Genbank ID ON355336 | 2022 | 35574714 | ||
| 1313 | OMIA:002159-9685 | domestic cat | Siberian (Cat) | Sunshine (golden) | CORIN | vwb^SIB | missense | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.167809720C>T | c.2383C>T | p.(R795C) | XM_019829551.2; XP_019685110.1 | 2021 | 33970502 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. | |
| 1428 | OMIA:002533-9685 | domestic cat | Domestic Shorthair | Osteogenesis imperfecta | CREB3L1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.100436508_100436509del | c.370_371del | p.(C124Lfs) | XM_003993204.4; XP_003993253.1; published as c.370_371delTG | 2022 | 35168412 | |||
| 916 | OMIA:000881-9685 | domestic cat | Abyssinian (Cat) | Rod-cone dysplasia | CRX | Rdy | deletion, small (<=20) | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | E2 | g.9492897del | c.546del | p.(P185Lfs*2) | XM_045045412.1; XP_044901347.1; published as CRX: n.546delC; in the Felis_catus_9.0 assembly the CRX gene is duplicated and genomic coordinates in this table are given for a more recent reference genome | 2010 | 20053974 | ||
| 1517 | OMIA:002607-9685 | domestic cat | Domestic Longhair | Pyknodysostosis | CTSK | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | C1 | g.105945826G>A | c.724C>T | p.(R242*) | ENSFCAT00000003643; variant is reported in a single affected cat | 2022 | 36532681 | |||
| 1548 | OMIA:002131-9685 | domestic cat | Domestic Shorthair | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | splicing | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | B4 | g.135605715C>T | c.226+5G>A | XM_045062469.1; two transcripts were observed in the cat with the splice variant resulting in two predicted protein variants: XP_044918404.1:p.(G76_Q77insERSPDPARVEPG) and XP_044918404.1:p.(V52Afs*58), | 2023 | 37048064 | ||||
| 1155 | OMIA:002131-9685 | domestic cat | Domestic Shorthair | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.137967506C>T | c.625G>A | p.(G209S) | Jaffey e al. (2019): "p.Gly209Ser amino acid change in transcript CYB5R3-202 (ENSFCAT00000056925) at position B4:137967506" | 2019 | 31650629 | |||
| 1156 | OMIA:002131-9685 | domestic cat | Domestic Shorthair | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.137970815C>G | c.232-1G>C | Jaffey et al. (2019): "a putative loss of function splice acceptor variant at c.232-1G>C in the CYB5R3-202 transcript (ENSFCAT00000056925) at position B4:137970815 that is in the acceptor site for exon 4, which likely affects downstream translation of the protein." | 2019 | 31650629 | ||||
| 117 | OMIA:001661-9685 | domestic cat | Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency | CYP11B1 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | F2 | g.84247412G>A | c.1151G>A | p.(R384Q) | XM_004000154.3; XP_004000203.1 published as "a guanosine-to-adenosine mutation in exon 7 that results in an arginine to glutamine amino acid substitution; this latter mutation results in 11β-hydroxylase deficiency-associated CAH in people [Parajes et al. (2010) J Clin Endocrinol Metab 95:779–788]. | 2012 | 22827537 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 502 | OMIA:000837-9685 | domestic cat | Vitamin D-deficiency rickets, type I | CYP27B1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.86180281del | c.731del | p.(R244Pfs*32) | XM_003988966.3; XP_003989015.1; published as c.731delG | 2009 | 19138382 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 315 | OMIA:000837-9685 | domestic cat | Siamese (Cat) | Vitamin D-deficiency rickets, type I | CYP27B1 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.86180375C>A | c.637G>T | p.(E213*) | XM_003988966.3; XP_003989015.1; | rs5334475145 | 2012 | 22553308 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 1137 | OMIA:002221-9685 | domestic cat | Domestic Shorthair | Vitamin D-deficiency rickets, type Ib | CYP2R1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.72977336del | c.1386del | p.(F462Lfs*20) | XM_003993015.5; XP_003993064.1; genomic position in accordance with HGVS 3'-rule | 2019 | 30777056 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. | ||
| 1308 | OMIA:001484-9685 | domestic cat | Abyssinian (Cat) Burmese (Cat) Maine Coon (Cat) Oriental Shorthair (Cat) | Ticked | DKK4 | Ti^CK | missense | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.42620835C>T | c.53C>T | p.(A18V) | rs5334475164 | 2021 | 33780570 | ENSFCAT00000034752:c.53C>T; XM_023252567.1:c53C>T | |
| 1307 | OMIA:001484-9685 | domestic cat | Abyssinian (Cat) | Ticked | DKK4 | Ti^A | missense | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.42621481G>A | c.188G>A | p.(C63Y) | published as g.41621481G>A | rs785541575 | 2021 | 33780570 | (XM_023252567.1; ENSFCAT00000034752: c.188G>A) |
| 922 | OMIA:001081-9685 | domestic cat | Domestic Shorthair | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | Naturally occurring variant | yes | X | A deletion of the muscle promoter and first exon and the Purkinje neuronal first exon of the DMD gene | 1994 | 7881288 | |||||||
| 923 | OMIA:001081-9685 | domestic cat | Domestic Shorthair | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | Naturally occurring variant | yes | X | A large deletion that "involved regions of the dystrophin gene that are poorly characterized, including the cortical neuronal promoter and its first exon and the skeletal neuronal promoter and its first exon" | 2014 | 24446404 | |||||||
| 1656 | OMIA:001081-9685 | domestic cat | Domestic Shorthair | Muscular dystrophy, Duchenne type | DMD | nonsense (stop-gain) | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | X | g.27949145C>T | c.4849C>T | p.(Q1617*) | XM_023249210.1 | 2024 | 38180235 | |||
| 1510 | OMIA:001081-9685 | domestic cat | Maine Coon (Cat) | Muscular dystrophy, Duchenne type | DMD | nonsense (stop-gain) | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | X | g.28208148G>A | c.1180C>T | p.(R394*) | XM_045050794.1; XP_044906729.1 | 2022 | 36359052 | |||
| 1531 | OMIA:001888-9685 | domestic cat | Maine Coon (Cat) | Becker muscular dystrophy | DMD | missense | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.27988938G>A | XM_045050787.1:c.4186C>T | XP_044906722.1:p.(H1396Y) | 2023 | 36834603 | ||||
| 1684 | OMIA:001888-9685 | domestic cat | Kinkalow (Cat) | Muscular dystrophy, X-linked | DMD | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | X | NC_018741.3:g.27350268G>A | XM_023249210.1:c.8467C>T | XP_023104978.1:p.(Q2823*) | likely de novo mutation reported in a single cat | 2024 | 38613437 | |||
| 1667 | OMIA:001888-9685 | domestic cat | Domestic Shorthair | Muscular dystrophy, X-linked | DMD | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | X | NC_018741.3:g.27361452C>T | XM_023249210.1:c.8333G>A | XP_023104978.1:p.(W2778*) | F.catus_Fca126_mat1.0 coordinates are g.27110574G>A | 2024 | 38415938 | |||
| 125 | OMIA:001776-9685 | domestic cat | Dihydropyrimidinase deficiency | DPYS | missense | Naturally occurring variant | yes | Felis_catus_9.0 | F2 | g.52064442C>T | c.1303G>A | p.(G435R) | XM_023248231.1; XP_023103999.1 | 2012 | 23430934 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 1392 | OMIA:002452-9685 | domestic cat | Domestic Shorthair | Hair shaft dysplasia | DSG4 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D3 | g.55315010del | c.76del | p.(I26Lfs*4) | XM_019815116.1; XP_019670675.1 | 2022 | 34878611 | |||
| 1393 | OMIA:002452-9685 | domestic cat | Domestic Shorthair | Hair shaft dysplasia | DSG4 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D3 | g.55336127del | c.1777del | p.(H593Tfs*23) | XM_019815116.1; XP_019670675.1 | 2022 | 34878611 | |||
| 1705 | OMIA:000543-9685 | domestic cat | Domestic Shorthair | Hypohidrotic ectodermal dysplasia | EDA | missense | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.57148944G>A | XM_011291781.3:c.1042G>A | XP_011290083.1:p.(A348T) | reported in a single cat | 2024 | 39062633 | |||
| 1439 | OMIA:001457-9685 | domestic cat | Multiple acyl-CoA dehydrogenase deficiency | ETFDH | missense | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.71374631A>C | c.692T>G | p.(F231C) | NM_001290236.1; NP_001277165.1 | 2014 | 24142280 | Thanks to Heidi Anderson for alerting OMIA to this paper; 31 March 2022 | |||
| 1467 | OMIA:002554-9685 | domestic cat | Osteochondromatosis (feline leukemia virus-negative) | EXT1 | duplication | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | F2 | g.61870704dup | c.1468dup | p.(L490Pfs*31) | XM_023248762.2; | 2022 | 35719100 | ||||
| 1472 | OMIA:000363-9685 | domestic cat | Maine Coon (Cat) | Factor XI deficiency | F11 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.17176154G>A | c.1546G>A | p.(V516M) | XM_003984601.5; XP_003984650.2 | 2022 | 35627175 | |||
| 533 | OMIA:000364-9685 | domestic cat | American Shorthair (Cat) Balinese (Cat) Bengal (Cat) Cymric (Cat) Highlander (Cat) Himalayan (Cat) Maine Coon (Cat) Maine Coon Polydactyl (Cat) Manx (Cat) Minuet (Cat) Munchkin (Cat) Munchkin Longhair (Cat) Ragdoll (Cat) Savannah (Cat) Siamese (Cat) Tennessee Rex (Cat) | Factor XII deficiency | F12 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.175381114del | c.1321del | p.(L441Cfs*119) | NM_001168212.2; NP_001161684.2; published as c.1321delC | 2015 | 24793828 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. | ||
| 147 | OMIA:000364-9685 | domestic cat | Balinese (Cat) Bengal (Cat) Bengal Longhair (Cat) Bombay (Cat) British Shorthair (Cat) Devon Rex (Cat) Domestic Shorthair Donskoy (Cat) Elf (Cat) Exotic Shorthair (Cat) Highlander (Cat) Himalayan (Cat) Lykoi (Cat) Maine Coon (Cat) Maine Coon Polydactyl (Cat) Minuet (Cat) Minuet Longhair (Cat) Munchkin (Cat) Munchkin Longhair (Cat) Neva Masquerade (Cat) Oriental Longhair (Cat) Oriental Shorthair (Cat) Persian (Cat) Peterbald (Cat) Ragdoll (Cat) Savannah (Cat) Scottish Fold (Cat) Scottish Fold Longhair (Cat) Scottish Straight (Cat) Scottish Straight Longhair (Cat) Selkirk Rex (Cat) Selkirk Rex Longhair (Cat) Siamese (Cat) Siberian (Cat) Sphynx (Cat) Tennessee Rex (Cat) Turkish Angora (Cat) | Factor XII deficiency | F12 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.175382065G>C | c.1631G>C | p.(G544A) | NM_001168212.2; NP_001161684.2 | rs5334475144 | 2017 | 28392508 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. | |
| 127 | OMIA:000438-9685 | domestic cat | Domestic Longhair | Haemophilia B | F9 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | X | g.117091961G>A | c.383G>A | p.(C128Y) | NM_001009377.3; NP_001009377.1; published as p.(C82Y); coordinates in the table have been updated to a recent reference genome and / or transcript | 2005 | 15822564 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 310 | OMIA:000438-9685 | domestic cat | Haemophilia B | F9 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | X | g.117111577C>T | c.1150C>T | p.(R384*) | NM_001009377.3; NP_001009377.1; published as p.(R338*); coordinates in the table have been updated to a recent reference genome and / or transcript | 2005 | 15822564 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 613 | OMIA:002064-9685 | domestic cat | British Shorthair (Cat) | Autoimmune lymphoproliferative syndrome | FASLG | duplication | Naturally occurring variant | yes | Felis_catus_9.0 | F1 | g.16871916dup | c.418dup | p.(R140Kfs*37) | NM_001009352.1; NP_001009352.1; published as c.413_414insA "insertion of an adenine at position 14,607,400 [Felis_Catus_6.2]" (Aberdein et al., 2017); changed in this table to a recent reference genome and HGVS nomenclature | 2017 | 27770190 | |||
| 1368 | OMIA:000439-9685 | domestic cat | Maine Coon (Cat) | Long hair | FGF5 | l^MCC2 (M5) | missense | Naturally occurring variant | unknown | Felis_catus_9.0 | B1 | g.142165850C>T | c.577G>A | p.(A193T) | NM_001114546.1; NP_001108018.1 | 2021 | 34599367 | ||
| 130 | OMIA:000439-9685 | domestic cat | Long hair | FGF5 | l (M4) | missense | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.142165952T>G | c.475A>C | p.(T159P) | NM_001114546.1; NP_001108018.1; published as c.474delT; variant can be in a haplotype with c.474del | rs5334475161 | 2007 | 17433015 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 498 | OMIA:000439-9685 | domestic cat | Maine Coon (Cat) Ragdoll (Cat) | Long hair | FGF5 | l^MCC1 (M3) | deletion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.142165953del | c.474del | NM_001114546.1; NP_001108018.1; published as c.474delT; variant can be in a haplotype with c.475A>C resulting in two different predicted effects on the protein | 2007 | 17433015 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 311 | OMIA:000439-9685 | domestic cat | Norwegian Forest Cat (Cat) | Long hair | FGF5 | l^NFC (M2) | nonsense (stop-gain) | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.142177919G>A | c.406C>T | p.(R136*) | NM_001114546.1; NP_001108018.1 | rs5334475123 | 2007 | 17767004 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770) |
| 595 | OMIA:000439-9685 | domestic cat | Ragdoll (Cat) | Long hair | FGF5 | l^Rag (M1) | insertion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.142185646_142185647insA | c.356_357insT | p.(M119Ifs) | NM_001114546.1; NP_001108018.1; published as c.ins356T | 2007 | 17767004 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |
| 1675 | OMIA:001313-9685 | domestic cat | Bengal (Cat) Egyptian Mau (Cat) Toyger (Cat) | Coat texture, glitter | FGFR2 | insertion, gross (>20) | Naturally occurring variant | no | Felis_catus_9.0 | D2 | g.79707475_79,707,478insN[585] | a 585-bp cat-specific Endogenous Retroviral Long Terminal Repeat (ERV1-3_FCa-type LTR) element insertion | 2024 | 38531359 | |||||
| 1319 | OMIA:001949-9685 | domestic cat | Birman (Cat) | Hypotrichosis, with short life expectancy | FOXN1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | E1 | g.18255880_18255883del | c.1030_1033del | p.L344Gfs | XM_019817475.2; XP_019673034.1; published as c.1030_1033delCTGT; predicted to cause a frameshift leading to a premature stop codon at position 547 | 2015 | 25781316 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1544 | OMIA:000419-9685 | domestic cat | Domestic Shorthair | Glycogen Storage Disease Type II (Pompe Disease) | GAA | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E1 | g.60946737G>A | c.1799G>A | p.(R600H) | XM_006940651.4; XP_006940713.4 | 2023 | 37106898 | The OMIA curators thank Osamu Yamato for providing the variant information not included in Rakib et al. (2023); 17 April 2023. | ||
| 742 | OMIA:000420-9685 | domestic cat | Norwegian Forest Cat (Cat) | Glycogen storage disease IV | GBE1 | delins, gross (>20) | Naturally occurring variant | yes | Felis_catus_9.0 | C2 | g.34744479_34781895delinsN[334] | published as "334 bp insertion at the site of a 6.2 kb deletion that extends from intron 11 to intron 12 (g. IVS11+1552_IVS12-1339 del6.2kb ins334 bp), removing exon 12" | 2007 | 17257876 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. | ||||
| 1221 | OMIA:002366-9685 | domestic cat | Toyger (Cat) | Holoprosencephaly | GDF7 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | A3 | g.127002233_127002239del | c.221_227del | p.(R74Pfs*17) | XM_023252074.1; XP_023107842.1; published as "a 7 bp deletion in the coding region of GDF7 (c.221_227delGCCGCGC [p.Arg74Profs*17]) at the position A3:127002233 (ENSFCAT00000063603)" (Yu et al., 2020) | rs5334475136 | 2020 | 32575532 | ||
| 126 | OMIA:000402-9685 | domestic cat | Korat (Cat) Siamese (Cat) | Gangliosidosis, GM1 | GLB1 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | C2 | g.158932167C>G | c.1448G>C | p.(R483P) | rs5334475143 | 2008 | 18353697 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 496 | OMIA:001427-9685 | domestic cat | Gangliosidosis, GM2, GM2A deficiency | GM2A | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.198114664_198114667del | c.516_519del | p.(V173Sfs*17) | XM_003981379.5; XP_003981428.2; published as c.516_519delGGTC | 2005 | 16200419 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 1035 | OMIA:001248-9685 | domestic cat | Domestic Shorthair | Mucolipidosis II | GNPTAB | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.124431151G>A | c.2644C>T | p.(Q882*) | XM_003989173.5; XP_003989222.2 | 2018 | 30591066 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 383 | OMIA:000821-9685 | domestic cat | Primary hyperoxaluria type II (Oxalosis II) | GRHPR | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | D4 | g.60968927G>A | p.(N169Kfs*46) | "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4" ; protein position based on XP_006939354.1 | rs5334475152 | 2009 | Reference not in PubMed; see OMIA 000821-9685 for reference details | ||||
| 133 | OMIA:000667-9685 | domestic cat | Mucopolysaccharidosis VII | GUSB | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E3 | g.16120173G>A | c.1051G>A | p.(E351K) | NM_001009310.1; NP_001009310.1; published as "single G-to-A transition at nucleotide position 1074, predicting a glutamate-to-lysine substitution of amino acid residue 351 (E351K)" | rs5334475137 | 1999 | 10366443 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 139 | OMIA:000667-9685 | domestic cat | Mucopolysaccharidosis VII | GUSB | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E3 | g.[16123229T>G;16123232C>T] | c.[1423T>G;1426C>T] | p.(S475_R476delinsAW) | NM_001009310.1; NP_001009310.1; published as c.1421T>G and c.1424C>T; coordinates in the table have been updated to a recent reference genome and / or transcript | 2015 | 26118695 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 145 | OMIA:001987-9685 | domestic cat | Japanese domestic | Bobtail | HES7 | JBT | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E1 | g.2918735A>G | c.5A>G | p.(V2A) | XM_003996191.4:c.5T>C; Felis_catus_6.2: g.2819475A>G | rs5334475119 | 2016 | 27030474 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770) |
| 497 | OMIA:001462-9685 | domestic cat | Korat (Cat) | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | HEXB | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.141540010del | c.39del | p.(L14Sfs*82) | NM_001009333.2; NP_001009333.2; published as c.39delC | 1994 | 8178934 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 309 | OMIA:001462-9685 | domestic cat | Japanese domestic | Gangliosidosis, GM2, type II (Sandoff or variant 0) | HEXB | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.141565348C>T | c.667C>T | p.(R223*) | NM_001009333.2; NP_001009333.2 | 2007 | 16872651 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 381 | OMIA:001462-9685 | domestic cat | Burmese (Cat) | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | HEXB | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.141571030_141571044del | c.1244-8_1250del | NM_001009333.2 | 2009 | 19231264 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 741 | OMIA:001462-9685 | domestic cat | Domestic Shorthair | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | HEXB | inversion | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.141571788_141571812inv | c.1467_1491inv | p.(F489Lfs*4) | NM_001009333.2; NP_001009333.2 | 2004 | 15081585 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 596 | OMIA:001493-9685 | domestic cat | Siamese (Cat) | Porphyria, acute intermittent | HMBS | insertion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | 16541468dup | c.189dup | p.(L64Sfs*2) | NM_001177808.1; NP_001171279.1; published as c.189dupT | 2010 | 19934113 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 530 | OMIA:001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.16540928_16540931del | c.107_110del | p.(D36Vfs*6) | NM_001177808.1; NP_001171279.1; published as c.107_110delACAG | 2013 | 24239138 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 135 | OMIA:001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | missense | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.16541614G>A | c.250G>A | p.(A84T) | NM_001177808.1; NP_001171279.1 | rs5334475139 | 2013 | 24239138 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 136 | OMIA:001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | missense | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.16542541C>T | c.445C>T | p.(R149W) | NM_001177808.1; NP_001171279.1 | rs5334475165 | 2013 | 24239138 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 402 | OMIA:001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.16544575G>A | c.826-1G>A | NM_001177808.1 | rs5334475129 | 2013 | 24239138 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
| 501 | OMIA:001493-9685 | domestic cat | Siamese (Cat) | Porphyria, acute intermittent | HMBS | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.16544592_16544594del | c.842_844del | p.(G281del) | NM_001177808.1; NP_001171279.1; published as c.842_844delGAG | 2013 | 24239138 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1423 | OMIA:002116-9685 | domestic cat | Donskoy (Cat) | Pink-eye | HPS5 | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.76211236C>T | c.2571-1G>A | XM_006937131.3 | 2020 | 32558164 | ||||
| 1222 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^TN | duplication | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.36040784_36040785dup | c.1255_1256dup | p.(Q420Sfs*100) | ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as c.1255_1256dupGT | 2020 | 32580512 | ||
| 1224 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^Fr | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.36040933delinsCAG | c.1404+2delinsCAG | ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as c.1404+2delTinsCAG; changed to HGVS nomenclature in this table; "This variant should extend and change the reading frame, including an additional 24 amino acids in the aberrant protein before a stop codon is recognized. Alternatively, a cryptic splice site may be used from within intron 4." (Buckley et al., 2020) | 2020 | 32580512 | |||
| 1225 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^TX | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.36045776G>A | c.2112G>A | ENSFCAT00000012982.5; ENSFCAP00000012037.2; "This variant likely disrupts the splice donor allowing read-through for an additional 12 amino acids until a stop codon is encountered .... Alternatively, a cryptic splice site may be used from within intron 8." (Buckley et al., 2020) | rs5334475128 | 2020 | 32580512 | ||
| 1226 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^NC | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.36047047C>T | c.2243C>T | p.(R748*) | rs5334475155 | 2020 | 32580512 | ||
| 1227 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^Ca | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.36047518C>T | c.2593C>T | p.(Q865*) | ENSFCAT00000012982.5; ENSFCAP00000012037.2 | rs5334475120 | 2020 | 32580512 | |
| 1223 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^VA | insertion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.36051555_36051556insGACA | c.3389_3390insGACA | p.(S1130Rfs*29) | ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as g.36051555insGACA and c.3389insGACA; changed to HGVS nomenclature in this table | 2020 | 32580512 | ||
| 500 | OMIA:000664-9685 | domestic cat | Mucopolysaccharidosis I | IDUA | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.207800586_207800588del | c.1042_1044del | p.(D348del) | NM_001305032.1; NP_001291961.1; a 3 bp deletion in the IDUA gene; HGVS 3'-rule applied to variant coordinates in this table | 1999 | 10356309 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 1245 | OMIA:001000-9685 | domestic cat | Domestic Shorthair | Glanzmann's thrombasthenia | ITGA2B | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | E1 | g.44416063del | c.1986delC | p.(P662fs) | ENSFCAT00000003056.6:c.1986delC; p.Pro662fs (Li et al., 2020) | rs5334475153 | 2020 | 32935881 | ||
| 775 | OMIA:000595-9685 | domestic cat | Leukocyte adhesion deficiency, type I | ITGB2 | ITGB-2 missing exon 2 | deletion, gross (>20) | Naturally occurring variant | yes | Felis_catus_9.0 | C2 | g.1772101_1772124del | c.46_58+11del | XM_011285804.3; Bauer et al. (2017) "24 bp deletion at the exon 2 to intron 2 boundary (c.46_58 + 11del), predicting premature translational termination due to abnormal splicing of exon 1 to exon 3 or 4." | 2017 | 28750142 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 1191 | OMIA:002267-9685 | domestic cat | Bengal (Cat) Highlander (Cat) Highlander Shorthair (Cat) Savannah (Cat) | Progressive retinal atrophy | KIF3B | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A3 | g.26784019C>T | c.1000G>A | p.(A334T) | ENSFCAT00000022266; c.1000G>A (p.Ala334Thr) | rs5334475117 | 2020 | 32386558 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Additional breeds reported based on PMID:35709088. | |
| 1695 | OMIA:001737-9685 | domestic cat | Coat colour, salmiak | KIT | w^sal | deletion, gross (>20) | Naturally occurring variant | unknown | Felis_catus 9.0 | B1 | NC_018726.3:g.163792100_163887091del | a novel 94 991 bp deletion in the 65875 bp downstream region of the KIT gene | 2024 | 38721753 | |||||
| 620 | OMIA:001580-9685 | domestic cat | Birman (Cat) | Feet white (gloving) | KIT | g | delins, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.163986474_163986475delinsTG | c.1035_1036delinsCA | p.(E345_H346delinsDN) | NM_001009837.3; NP_001009837.3; Montague et al. (2014) describe this variant as "two adjacent missense mutations". | 2010 | 21147473 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |
| 994 | OMIA:000209-9685 | domestic cat | Domestic Longhair | Coat colour, dominant white | KIT | W | insertion, gross (>20) | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.164038110_164038111insN[617] | published as "a FERV1 long terminal repeat (LTR) is associated with all Dominant White individuals" | 2014 | 25085922 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. | |||
| 732 | OMIA:001737-9685 | domestic cat | Coat colour, white spotting, KIT-related | KIT | S | insertion, gross (>20) | Naturally occurring variant | no | Felis_catus_9.0 | B1 | g.164038110_164038111insN[7125] | "an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene." | 2014 | 25085922 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. | ||||
| 1229 | OMIA:002281-9685 | domestic cat | Domestic Shorthair | Epidermolysis bullosa, simplex, KRT14-related | KRT14 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | E1 | g.42361726G>A | c.979C>T | p.(Q327*) | XM_003996860.5; XP_003996909.2 | 2020 | 32657488 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. | ||
| 382 | OMIA:001583-9685 | domestic cat | Sphynx (Cat) | Sphynx hairless | KRT71 | Re^HR | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.81048680C>T | c.816+1G>A | rs5334475135 | 2010 | 20953787 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 394 | OMIA:001712-9685 | domestic cat | Selkirk Rex (Cat) | Curly coat, Selkirk rex | KRT71 | Re^S | splicing | Naturally occurring variant | no | Felis_catus_9.0 | B4 | g.81050264C>G | c.445-1G>C | NM_001195239.1 | 2013 | 23770706 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 380 | OMIA:001581-9685 | domestic cat | Devon Rex (Cat) | Curly coat, Devon rex | KRT71 | re | complex rearrangement | Naturally occurring variant | no | Felis_catus_9.0 | B4 | g.[81046358_81046359insA;81046370_81046371insCTCCAACT;81046371_81046451del] | c.[1108-4_1184del;1184_1185insAGTTGGAG;1196_1197insT] | NM_001195239.1; published as c.1108-4_1184del;c.1184_1185insAGTTGGAG;c.1196insT; variant causes a splicing variation | 2010 | 20953787 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. | ||
| 1535 | OMIA:001371-9685 | domestic cat | Domestic Shorthair | L-2-hydroxyglutaricacidemia | L2HGDH | nonsense (stop-gain) | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | B3 | g.97881395G>A | c.397C>T | p.(Q133*) | XM_023255678.2; XP_023111446.2 | 2023 | 36880414 | |||
| 1317 | OMIA:001371-9685 | domestic cat | Domestic Longhair | L-2-hydroxyglutaric aciduria | L2HGDH | missense | Naturally occurring variant | yes | Felis_catus_9.0 | B3 | g.100207200T>C | c.1301A>G | p.(H434R) | XM_023255678.1; XP_023111446.1 | rs5334475154 | 2021 | 34062805 | ||
| 1203 | OMIA:002273-9685 | domestic cat | Ural Rex (Cat) | Curly coat, Ural Rex | LIPH | urx | delins, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | C2 | g.84136341_84136347delinsC | c.477_483delinsC | p.(S160_G161del) | XM_023260327.1; XP_023116095.1; changed from c.478_483del to c.477_483delinsC in accordance with HGVS nomenclature [17/2/2022] | 2020 | 32463158 | ||
| 649 | OMIA:002389-9685 | domestic cat | Highlander (Cat) Maine Coon (Cat) Maine Coon Polydactyl (Cat) | Spinal muscular atrophy | LIX1 | deletion, gross (>20) | Naturally occurring variant | yes | Felis_catus_9.0 | A1 | g.161036890_161176706del | published as "a ~140 kb deletion removing exons 4-6 of LIX1 and all except exon 1 of LNPEP" | 2006 | 16899656 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. | ||||
| 434 | OMIA:000810-9685 | domestic cat | Polydactyly | LMBR1 | Pd^UK2 | regulatory | Naturally occurring variant | yes | Felis_catus_9.0 | A2 | g.169532842T>A | regulatory variant in the ZPA regulatory sequence (ZRS); published as AGACACAG[A/T]AATGAG | 2008 | 18156157 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. | ||||
| 432 | OMIA:000810-9685 | domestic cat | Maine Coon (Cat) | Polydactyly | LMBR1 | Pd^Hw | regulatory | Naturally occurring variant | yes | Felis_catus_9.0 | A2 | g.169532844T>C | regulatory variant in the ZPA regulatory sequence (ZRS); published as AGACAC[A/G]GAAATGAG | 2008 | 18156157 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley. | |||
| 433 | OMIA:000810-9685 | domestic cat | Polydactyly | LMBR1 | Pd^UK1 | regulatory | Naturally occurring variant | yes | Felis_catus_9.0 | A2 | g.169533066C>G | regulatory variant in the ZPA regulatory sequence (ZRS); published as CC[G/C]GTG | 2008 | 18156157 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley. | ||||
| 522 | OMIA:001684-9685 | domestic cat | Cornish Rex (Cat) German Rex (Cat) | Curly/woolly coat, Cornish Rex and German Rex | LPAR6 | r | deletion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | A1 | g.22919307_22919310del | c.250_253del | p.(F84Efs*9) | NM_001309049.1; NP_001295978.1; c.250_253delTTTG | 2013 | 23826204 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770) | |
| 131 | OMIA:001210-9685 | domestic cat | Hyperlipoproteinaemia | LPL | missense | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.38078551C>T | c.1315G>A | p.(G439R) | NM_001042567.1; NP_001036032.1; published as c.1234G>A and p.(G412R); coordinates in the table have been updated to a recent reference genome and / or transcript | 1996 | 8636438 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |||
| 610 | OMIA:002017-9685 | domestic cat | Siamese (Cat) | Glaucoma 3, primary congenita | LTBP2 | duplication | Naturally occurring variant | yes | Felis_catus_9.0 | B3 | g.121929604_121929607dup | c.1449_1452dup | p.(A485Gfs) | ENSFCAT00000064963.2; ENSFCAP00000046761.2; published as "a 4-bp insertion in exon 8 located at chrB3: 120995236"[felCat5] | 2016 | 27149523 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1394 | OMIA:002485-9685 | domestic cat | British Shorthair (Cat) | Skeletal dysplasia, LTBP3-related | LTBP3 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.110690432del | c.158del | p.(G53Afs*16) | XM_023240055.1; XP_023095823.1 | 2021 | 34946872 | |||
| 1429 | OMIA:001429-9685 | domestic cat | Tabby, atypical swirl | LVRN | Ta^as | missense | Naturally occurring variant | no | Felis_catus_9.0 | A1 | p.(T139N) | DNA coordinates not published; associated with an atypical swirled pattern but is incompletely penetrant | 2012 | 22997338 | |||||
| 307 | OMIA:001429-9685 | domestic cat | Blotched tabby | LVRN | Ta^b2 | nonsense (stop-gain) | Naturally occurring variant | no | Felis_catus_9.0 | A1 | g.96753652C>A | c.176C>A | p.(S59*) | XM_023254329.1; XP_023110097.1 | 2012 | 22997338 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 124 | OMIA:001429-9685 | domestic cat | Blotched tabby | LVRN | Ta^b1 | missense | Naturally occurring variant | no | Felis_catus_9.0 | A1 | g.96754158G>A | c.682G>A | p.(D228N) | XM_023254329.1; XP_023110097.1 | 2012 | 22997338 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 308 | OMIA:001429-9685 | domestic cat | Blotched tabby | LVRN | Ta^b3 | nonsense (stop-gain) | Naturally occurring variant | no | Felis_catus_9.0 | A1 | g.96813484G>A | c.2522G>A | p.(W841*) | XM_023254329.1; XP_023110097.1; Felis_catus_9.0 represents g.96813484A | 2012 | 22997338 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1147 | OMIA:000185-9685 | domestic cat | Persian (Cat) | Chediak-Higashi disease | LYST | repeat variation | Naturally occurring variant | yes | Felis_catus_9.0 | D2 | g.13289500_13308861dup | c.8347-2422_9548+1749dup | Buckley et al. (2020): "a tandem segmental duplication encompassing exons 30 through to 38 (NM_001290242.1:c.8347-2422_9548 + 1749dup) (NC_018733.3:g.13289500_13308861dup)" | 2020 | 31919397 | ||||
| 499 | OMIA:000625-9685 | domestic cat | Persian (Cat) | Mannosidosis, alpha | MAN2B1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | A2 | g.9011118_9011121del | c.1749_1752del | p.(Q584Afs) | NM_001009222.1; NP_001009222.1 | 1997 | 9396732 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1636 | OMIA:000626-9685 | domestic cat | Domestic Shorthair | Mannosidosis, beta | MANBA | missense | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.121800342G>A | c.2506G>A | p.(G836R) | ENSFCAT00000007560, variant was reported in a single affected cat | 2024 | 37913889 | |||
| 123 | OMIA:001199-9685 | domestic cat | Norwegian Forest Cat (Cat) | Coat colour, amber | MC1R | e | missense | Naturally occurring variant | no | Felis_catus_9.0 | E2 | g.63829934G>A | c.250G>A | p.(D84N) | NM_001009324.1; NP_001009324.1 | rs5334475156 | 2009 | 19422360 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
| 561 | OMIA:001199-9685 | domestic cat | Burmese (Cat) | Coat colour, russet | MC1R | e^r | deletion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | E2 | g.63830124_63830126del | c.440_442del | p.(F147del) | NM_001009324.1; NP_001009324.1; published as c.439_441del and p.(F146del); coordinates in the table have been updated to a recent reference genome and / or transcript | 2017 | 27671997 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |
| 1090 | OMIA:001199-9685 | domestic cat | Kurilian Bobtail (Cat) | Coat colour, copal | MC1R | e^c | deletion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | E2 | g.63830324_63830353del | c.640_669del | p.(A214_R223del) | NM_001009324.1; NP_001009324.1 | 2019 | 31361350 | ||
| 1148 | OMIA:001962-9685 | domestic cat | Domestic Shorthair | Neuronal ceroid lipofuscinosis, 7 | MFSD8 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.98935076del | c.780del | p.(Q262Kfs*33) | XM_019828986.2; XP_019684545.1; published as c.780delT | 2020 | 31860737 | |||
| 495 | OMIA:000031-9685 | domestic cat | Coat colour, dilute | MLPH | d | deletion, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | C1 | g.219396820del | c.83del | p.(L28Rfs*12) | XM_023257818.1:c.83delT | rs5334475121 | 2006 | 16860533 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770) | |
| 1475 | OMIA:001508-9685 | domestic cat | Maine Coon (Cat) | Myotubular myopathy 1 | MTM1 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | X | g.125938001C>T | c.455C>T | p.(A152V) | XM_004000974.4; XP_004001023.1 | 2022 | 35962713 | |||
| 902 | OMIA:000515-9685 | domestic cat | American Bobtail (Cat) American Bobtail Shorthair (Cat) Highlander (Cat) Munchkin (Cat) Ragamuffin (Cat) Ragdoll (Cat) | Cardiomyopathy, hypertrophic | MYBPC3 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.101329646G>A | c.2453C>T | p.(R818W) | XM_019812397.1; XP_019667956.1; published as p.(R820W); coordinates in the table have been updated to a recent reference genome and / or transcript | 2007 | 17521870 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. | ||
| 901 | OMIA:000515-9685 | domestic cat | Maine Coon (Cat) Maine Coon Polydactyl (Cat) Munchkin (Cat) Pixiebob Longhair (Cat) Scottish Fold (Cat) Siberian (Cat) | Cardiomyopathy, hypertrophic | MYBPC3 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.101340772C>G | c.91G>C | p.(A31P) | XM_019812397.1; XP_019667956.1; variant initially reported in Main Coon cats and in a later study (Akiyama et al., 2023) identified in other breeds. | 2005 | 16236761 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. | ||
| 1121 | OMIA:002212-9685 | domestic cat | Domestic Shorthair | Cardiomyopathy, hypertrophic, MYH7-related | MYH7 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | B3 | g.76166296C>T | c.5647G>A | p.(E1883K) | XM_006932746.4; XP_006932808.1 | rs3166775194 | 2019 | 31164718 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |
| 134 | OMIA:000725-9685 | domestic cat | Domestic Shorthair | Niemann-Pick disease, type C1 | NPC1 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | D3 | g.48234217C>G | c.2864G>C | p.(C955S) | rs5334475149 | 2003 | 12809639 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 146 | OMIA:000725-9685 | domestic cat | Domestic Shorthair | Niemann-Pick disease, type C1 | NPC1 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | D3 | g.48250290T>G | c.1322A>C | p.(H441P) | rs5334475146 | 2017 | 28233346 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 1572 | OMIA:002065-9685 | domestic cat | Japanese domestic Siamese (Cat) | Niemann-Pick disease, type C2 | NPC2 | missense | Naturally occurring variant | unknown | Felis_catus_9.0 | B3 | g.121865210G>A | c.367G>A | p.(V126M) | XM_003987833.6; XP_003987882.1 | 2023 | 37458497 | |||
| 420 | OMIA:002065-9685 | domestic cat | Niemann-Pick disease, type C2 | NPC2 | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | B3 | g.121872988C>T | c.82+5G>A | p.(G28_S29ins35) | rs5334475124 | 2014 | 25396745 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
| 1055 | OMIA:002117-9685 | domestic cat | Domestic Shorthair | Inflammatory linear verrucous epidermal nevi | NSDHL | missense | Naturally occurring variant | yes | Felis_catus_9.0 | X | g.127926365A>G | c.397A>G | p.(S133G) | XM_004000985.5; XP_004001034.1 | 2019 | 30474267 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1659 | OMIA:001688-9685 | domestic cat | Maine Coon (Cat) | Blue eye colour, dominant | PAX3 | DBE^RE | nonsense (stop-gain) | Naturally occurring variant | no | F.catus_Fca126_mat1.0 | C1 | NC_051841.1:g.205787310G>A | XM_019838731.3:c.937C>T | XP_019694290.1:p.(Q313*) | 2024 | 38869246 | |||
| 1685 | OMIA:001688-9685 | domestic cat | Celestial Maine Coon (Cat) Siberian (Cat) | Blue eye colour, dominant | PAX3 | DBE^CEL | insertion, gross (>20) | Naturally occurring variant | no | Felis_catus 9.0 | C1 | NC_018730.3:g.206974029_206974030insN[395] | 2024 | 38644700 | |||||
| 1704 | OMIA:001688-9685 | domestic cat | Altai (Cat) British Longhair (Cat) British Shorthair (Cat) Persian (Cat) Ragdoll (Cat) Sphynx (Cat) | Blue eye colour, domianant | PAX3 | DBE^ALT | insertion, gross (>20) | Naturally occurring variant | unknown | Felis_catus 9.0 | C1 | NC_018730.3:g.206975776_206975777insN[433] | 2024 | 38997957 | |||||
| 1278 | OMIA:002303-9685 | domestic cat | Cerebral dysgenesis | PEA15 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | F1 | g.66768324del | c.176del | p.(N59Tfs*29) | XM_023247767.1; XP_023103535.1; published as felCat9 chrF1:66768323 GT -> G; c.176delA by Graff et al. (2020) | rs5334475160 | 2020 | 33290415 | |||
| 1610 | OMIA:000807-9685 | domestic cat | Scottish Fold (Cat) | Polycystic kidney disease | PKD1 | delins, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | E3 | g.42848725del | c.5250del | p.(G1641fs) | variant reported in a single cat | 2023 | 37489504 | |||
| 1611 | OMIA:000807-9685 | domestic cat | American Shorthair (Cat) | Polycystic kidney disease | PKD1 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E3 | g.42850283C>T | c.6808C>T | p.(R2162W) | variant reported in a single cat | 2023 | 37489504 | |||
| 314 | OMIA:000807-9685 | domestic cat | American Shorthair (Cat) Exotic Shorthair (Cat) Himalayan (Cat) Maine Coon (Cat) Munchkin (Cat) Persian (Cat) Ragdoll (Cat) Scottish Fold (Cat) Scottish Straight (Cat) Siberian (Cat) Sphynx (Cat) | Polycystic kidney disease | PKD1 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | E3 | NC_018738.3:g.42858112C>A | NC_018738.3:c.9882C>A | XP_023102816.1:p.(C3294*) | This variant was published as c.10063C>A, p.(C3284*) |
rs5334475162 | 2004 | 15466259 | The varaint has been initially identified in Persian cats but has since been reported in other breeds, e.g. PMID:31155548; PMID:37489504; PMID:35709088; PMID:39486512. | |
| 1424 | OMIA:002525-9685 | domestic cat | Siberian (Cat) | Polycystic kidney disease 2 | PKD2 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.134992553del | c.2211del | (p.K737Nfs*2) | XM_011281830.3; XP_011280132.2; published as c.2211delG | 2021 | 33785770 | |||
| 899 | OMIA:000844-9685 | domestic cat | Abyssinian (Cat) Bengal (Cat) Caracal (Cat) Chausie (Cat) Egyptian Mau (Cat) European Shorthair (Cat) Highlander (Cat) Highlander Shorthair (Cat) LaPerm (Cat) Lykoi (Cat) Maine Coon (Cat) Maine Coon Polydactyl (Cat) Minuet Longhair (Cat) Munchkin (Cat) Neva Masquerade (Cat) Norwegian Forest Cat (Cat) Pixiebob Longhair (Cat) Savannah (Cat) Siberian (Cat) Singapura (Cat) Toyger (Cat) | Pyruvate kinase deficiency of erythrocyte | PKLR | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | F1 | g.70310110G>A | c.707-53G>A | XM_023247386.1:c.707-53G>A; published as c.693+304G>A | rs5334475134 | 2012 | 23110753 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770); Grahn et al. (2012) reported that the variant is present in many breeds and suggested genotyping in Bengals, Egyptian Maus, La Perms, Maine Coon cats, Norwegian Forest cats, Savannahs, Siberians, and Singapuras. Additional breeds reported based on PMID:35709088. | ||
| 1377 | OMIA:002469-9685 | domestic cat | Retinopathy | RDH5 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.84417264G>T | c.542G>T | p.(G181V) | XM_019835050.1; XP_019690609.1 | 2021 | 34726233 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. | |||
| 1354 | OMIA:000593-9685 | domestic cat | Turkish Van (Cat) | Acrodermatitis enteropathica | SLC39A4 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | F2 | g.85320523C>G | c.1057G>C | p.(G353R) | cDNA and protein position based on XM_004000173.3 and XP_004000222.2, respectively | rs5334475163 | 2021 | 34573291 | ||
| 141 | OMIA:000256-9685 | domestic cat | Domestic Shorthair | Cystinuria, type I - A | SLC3A1 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A3 | g.66539609C>T | c.1342C>T | p.(R448W) | XM_003983937.5:c.1342C>T; Felis_catus_6.2: g.66470414C>T | rs5334475150 | 2015 | 25417848 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770) | |
| 142 | OMIA:002023-9685 | domestic cat | Cystinuria, type B | SLC7A9 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E2 | g.20218196G>A | c.706G>A | p.(D236N) | 2016 | 27404572 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant. | ||||
| 143 | OMIA:002023-9685 | domestic cat | Maine Coon (Cat) Maine Coon Polydactyl (Cat) Siamese (Cat) Siberian (Cat) Sphynx (Cat) | Cystinuria, type B | SLC7A9 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E2 | g.20219555T>A | c.881T>A | p.(V294E) | 2016 | 27404572 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant. Additional breeds reported based on PMID:35709088. | |||
| 144 | OMIA:002023-9685 | domestic cat | Cystinuria, type B | SLC7A9 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E2 | g.20228722C>T | c.1175C>T | p.(T392M) | 2016 | 27404572 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
| 1193 | OMIA:001795-9685 | domestic cat | Niemann-Pick disease, type A | SMPD1 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.65190416G>A | c.1017G>A | p.(W339*) | XM_006937046.3; XP_006937108.1 | 2020 | 32347185 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. | |||
| 1546 | OMIA:002669-9685 | domestic cat | Domestic Shorthair | Sebaceous gland dysplasia | SOAT1 | missense | Naturally occurring variant | yes | F.catus_Fca126_mat1.0 | F1 | g.20914140G > A | c.1531G>A | p.(G511R) | XM_011291017.4; XP_011289319.1 | 2023 | 37060467 | |||
| 1425 | OMIA:002526-9685 | domestic cat | Alimentary lymphoma, inducer of | STAT5B | missense | Naturally occurring variant | yes | Felis_catus_9.0 | E1 | g.42844462T>G | c.1924A>C | p.(N642H) | XP_023100377.1; XM_023244609.1; SOMATIC MUTATION | 2021 | 34680385 | ||||
| 1132 | OMIA:002219-9685 | domestic cat | Domestic Shorthair | Hypogonadotropic hypogonadism, TAC3-related | TAC3 | missense | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.85517451C>T | c.220G>A | p.(V74M) | Hug et al. (2019): XM_003988924.5:c.220G>A; XP_003988973.1:p.(Val74Met) | 2019 | 31615056 | |||
| 650 | OMIA:001617-9685 | domestic cat | Sweet taste, lack of | TAS1R2 | deletion, gross (>20) | Naturally occurring variant | yes | Felis_catus_9.0 | C1 | Felis_catus_9.0 | the TAS1R2 gene in cats, tigers and cheetahs has "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6 ... cat Tas1r2 is an unexpressed pseudogene" | 2005 | 16103917 | ||||||
| 525 | OMIA:000975-9685 | domestic cat | Manx (Cat) Pixiebob (Cat) | Tail, short | TBXT | MX^4 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B2 | g.152019395del | c.1196del | p.(P399Rfs*26) | XM_003986708.3; XP_003986757.2; published as c.1199delC and p.(P400Rfs*26); coordinates in the table have been updated to a recent reference genome and / or transcript and in accordance with HGVS 3'-rule | 2013 | 23949773 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. | |
| 524 | OMIA:000975-9685 | domestic cat | Manx (Cat) Pixiebob (Cat) | Tail, short | TBXT | MX^3 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B2 | g.152019424del | c.1166del | p.(P389Rfs*36) | XM_003986708.3; XP_003986757.2; published as c.1169delC and p.(P390Rfs*36); coordinates in the table have been updated to a recent reference genome and / or transcript and in accordance with HGVS 3'-rule | 2013 | 23949773 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. | |
| 523 | OMIA:000975-9685 | domestic cat | Manx (Cat) Pixiebob (Cat) | Tail, short | TBXT | MX^1 | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B2 | g.152021379del | c.995delT | p.(L332Pfs*22) | XM_003986708.3; XP_003986757.2; published as c.998delT and p.(L333Pfs*22); coordinates in the table have been updated to a recent reference genome and / or transcript | 2013 | 23949773 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |
| 623 | OMIA:000975-9685 | domestic cat | Manx (Cat) Pixiebob (Cat) | Tail, short | TBXT | MX^2 | delins, small (<=20) | Naturally occurring variant | no | Felis_catus_9.0 | B2 | g.[152021360_152021362del;152021363_152021379dup] | c.[995_1011dup;1011_1014del] | p.(A338Sfs*21) | XM_003986708.3; XP_003986757.2; published as c.998_1014dup17delGCC and p.(A339Sfs*21); coordinates in the table have been updated to a recent reference genome and / or transcript | 2013 | 23949773 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. | |
| 1279 | OMIA:002304-9685 | domestic cat | Maine Coon (Cat) | Unknown significance | TNNT2 | splicing | Naturally occurring variant | yes | Felis_catus_9.0 | F1 | g.42204052C>T | c.95-108G>A | This particular variant was a single base pair substitution (G to A) within intron 3, corresponding to c.95-108G > A of ENSFCAG00000004613 (McNamara et al., 2020). Based on the evidence provided by Schipper et al. (2022), this variant is now classified as having "unknown significance". For archival reasons, the variant remains in the OMIA variant table, but its "unknown significance" classification clearly indicates that, on the basis of current knowledge (2 June 2022), it "should not be used for breeding decisions regarding HCM" (Schipper et al., 2022) | 2020 | 33304277 | ||||
| 138 | OMIA:000536-9685 | domestic cat | Domestic Shorthair | Hypothyroidism | TPO | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A3 | g.142335362C>T | c.1333G>A | p.(A445T) | XM_006930524.4; XP_006930586.2 | 2015 | Reference not in PubMed; see OMIA 000536-9685 for reference details | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1485 | OMIA:000536-9685 | domestic cat | British Shorthair (Cat) Domestic Longhair Domestic medium-haired Domestic Shorthair Russian Blue (Cat) | Hypothyroidism | TPO | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A3 | g.142345528C>T | c.430G>A | p.(G144R) | XM_006930524.4; XP_006930586.2 | 2022 | 36054182 | |||
| 140 | OMIA:000319-9685 | domestic cat | Scottish Fold (Cat) Scottish Fold Longhair (Cat) | Ears, folded | TRPV4 | Fd | missense | Naturally occurring variant | yes | Felis_catus_9.0 | D3 | g.18884219C>A | c.1024G>T | p.(V342F) | XM_023241517.1; XP_023097285.1 | 2016 | 27063440 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |
| 349 | OMIA:000202-9685 | domestic cat | Albinism | TYR | c^2 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.45812806G>A | c.1204C>T | p.(R402*) | XM_003992642.4; XP_003992691.2 | rs5334475126 | 2017 | 27634063 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 1024 | OMIA:000202-9685 | domestic cat | Burmese (Cat) | Mocha | TYR | c^m | duplication | Naturally occurring variant | no | Felis_catus_9.0 | D1 | g.45898609_45898771dup | c.820_936delinsAATCTC | p.(I274_L312delinsNL) | Yu et al. (2019): "Sanger sequencing for genomic DNA revealed NC_018732.3:chromosome D1:45 898 609_45 898 771dup in exon 2 and intron 2 of TYR. Transcription analysis using cDNA detected c.820_936delinsAATCTC (p.I274_L312delinsNL), which caused a 111-bp (37 amino acid) deletion in the reading frame of TYR." | 2019 | 30716167 | ||
| 494 | OMIA:000202-9685 | domestic cat | Coat colour, complete albinism | TYR | c | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | D1 | g.45898772del | c.939del | p.(S314Pfs*9) | XM_003992642.4; XP_003992691.2; published as "a cytosine deletion in TYR at position 975 in exon 2" | 2006 | 16573534 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 122 | OMIA:000202-9685 | domestic cat | Siamese (Cat) | Siamese coat colour pattern | TYR | c^s | missense | Naturally occurring variant | no | Felis_catus_9.0 | D1 | g.45898803C>T | c. 904G>A | p.(G302R) | ENSFCAT00000029640.4; ENSFCAP00000020791.3; published as c. 940G>A and p.(G302R) by Lyons et al. (2005) and p.(G301R) by Schmidt-Küntzel et al. (2005) | 2005 | 15771720 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | |
| 121 | OMIA:000202-9685 | domestic cat | Burmese (Cat) | Burmese coat colour pattern | TYR | c^b | missense | Naturally occurring variant | no | Felis_catus_9.0 | D1 | g.45907839C>A | c.679G>T | p.(G227W) | XM_003992642.4; XP_003992691.2; Felis_catus_6.2: g.46406472G>T | rs5334475127 | 2005 | 15771720 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770) |
| 306 | OMIA:001249-9685 | domestic cat | Cinnamon (light brown) | TYRP1 | b^l | nonsense (stop-gain) | Naturally occurring variant | no | Felis_catus_9.0 | D4 | g.40069161C>T | c.298C>T | p.(R100*) | NM_001042560.2; NP_001036025.2; NM_001042560.2 represents the C allele; Felis_catus_9.0 reference sequence represents the T allele | 2005 | 16104383 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 379 | OMIA:001249-9685 | domestic cat | Chocolate | TYRP1 | b | splicing | Naturally occurring variant | no | Felis_catus_9.0 | D4 | g.40081229G>A | c.1261+5G>A | p.(A420_D421insX[17^18]) | NM_001042560.2; NP_001036025.2; based on Lyons et al. (2005): c.1261+5G>A; based on Schmidt-Küntzel et al. (2005) this splice variant results in c.1261_1262insN[51^54]; p.(A420_D421insX[17^18]) and is inherited together with g.40068871C>G / c.8C>G / p.(A3G) | 2005 | 16104383 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1228 | OMIA:002541-9685 | domestic cat | Munchkin (Cat) | Munchkin standard | UGDH | delins, gross (>20) | Naturally occurring variant | yes | Felis_catus_9.0 | B1 | g.174882895_174886198delinsN[108] | NC_018726.3:g.174882895_174886198delins108, Felis catus 9.0 (Struck et al., 2020) | 2020 | 32605545 | |||||
| 740 | OMIA:001586-9685 | domestic cat | Deficient acetaminophen glucuronidation | UGT1A6 | complex rearrangement | Naturally occurring variant | yes | Felis_catus_9.0 | C1 | Felis_catus_9.0 | "sequencing of the entire UGT1A6 exon 1 coding region revealed five deleterious genetic mutations ... [in cats] UGT1A6 is a pseudogene" | 2000 | 10862526 | ||||||
| 137 | OMIA:001175-9685 | domestic cat | Porphyria, congenital erythropoietic | UROS | missense | Naturally occurring variant | yes | Felis_catus_9.0 | D2 | g.[83467845C>T;83482394G>A] | c.[140C>T;331G>A] | p.[(S47F);(G111S)] | XM_003994514.4; XP_003994563.1 | 2010 | 20485863 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley. | |||
| 1586 | OMIA:001431-9685 | domestic cat | Domestic Longhair | Vitamin D-dependent rickets type 2 | VDR | deletion, small (<=20) | Naturally occurring variant | yes | Felis_catus_9.0 | B4 | g.76777621del | c.106del | p.(R36Efs*18) | ENSFCAT00000029466; published as c.106delC | 2023 | 37387221 | |||
| 312 | OMIA:001759-9685 | domestic cat | Burmese (Cat) | Hypokalaemic periodic paralysis | WNK4 | nonsense (stop-gain) | Naturally occurring variant | yes | Felis_catus_9.0 | E1 | g.43304422C>T | c.2899C>T | p.(Q967*) | XM_019817922.2; XP_019673481.1 | 2012 | 23285264 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. | ||
| 1541 | OMIA:002445-9685 | domestic cat | Domestic Shorthair | Xanthinuria, type 1 | XDH | missense | Naturally occurring variant | yes | Felis_catus_9.0 | A3 | g.114863284C>T | c.2042C>T | p.(A681V) | 2023 | 36970934 |
| Overall Statistics | |
|---|---|
| Total number of variants | 198 |
| Variants with genomic location | 195 (98.5% ) |
| Variants in a variant database, i.e. with rs ID | 44 (22.2%) |
| Variant Type | Count | Percent |
|---|---|---|
| complex rearrangement | 2 | 1.0% |
| deletion, gross (>20) | 8 | 4.0% |
| deletion, small (<=20) | 38 | 19.2% |
| delins, gross (>20) | 2 | 1.0% |
| delins, small (<=20) | 5 | 2.5% |
| duplication | 5 | 2.5% |
| insertion, gross (>20) | 5 | 2.5% |
| insertion, small (<=20) | 4 | 2.0% |
| inversion | 1 | 0.5% |
| missense | 77 | 38.9% |
| nonsense (stop-gain) | 26 | 13.1% |
| regulatory | 5 | 2.5% |
| repeat variation | 1 | 0.5% |
| splicing | 19 | 9.6% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1994 | 2 | 1.0% |
| 1995 | 0 | 0.0% |
| 1996 | 2 | 1.0% |
| 1997 | 1 | 0.5% |
| 1998 | 1 | 0.5% |
| 1999 | 2 | 1.0% |
| 2000 | 1 | 0.5% |
| 2001 | 0 | 0.0% |
| 2002 | 0 | 0.0% |
| 2003 | 2 | 1.0% |
| 2004 | 2 | 1.0% |
| 2005 | 9 | 4.5% |
| 2006 | 3 | 1.5% |
| 2007 | 14 | 7.1% |
| 2008 | 4 | 2.0% |
| 2009 | 4 | 2.0% |
| 2010 | 6 | 3.0% |
| 2011 | 0 | 0.0% |
| 2012 | 9 | 4.5% |
| 2013 | 11 | 5.6% |
| 2014 | 11 | 5.6% |
| 2015 | 7 | 3.5% |
| 2016 | 12 | 6.1% |
| 2017 | 6 | 3.0% |
| 2018 | 4 | 2.0% |
| 2019 | 10 | 5.1% |
| 2020 | 20 | 10.1% |
| 2021 | 13 | 6.6% |
| 2022 | 15 | 7.6% |
| 2023 | 16 | 8.1% |
| 2024 | 11 | 5.6% |