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111 variant records found

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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.

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 000388-9685 domestic cat Domestic Shorthair Fibrodysplasia ossificans progressiva ACVR1 missense yes Felis_catus_9.0 C1 c.617G>A p.R206H Casal et al. (2019): NC_018730.3. 2019 31007133
OMIA 001551-9685 domestic cat Brachycephaly ALX1 deletion, small (<=20) yes c.496delCTCTCAGGACTG 2016 26610632
OMIA 000666-9685 domestic cat Siamese Mucopolysaccharidosis VI ARSB missense yes Felis_catus_6.2 A1 g.143229993T>C c.1427T>C p.L476P 1996 8910299 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000201-9685 domestic cat Coat colour, non-agouti (black) ASIP deletion, small (<=20) no "a 2 bp deletion in the ASIP gene [at nucleotide positions 123-124]" 2003 12620197
OMIA 001071-9685 domestic cat Wilson disease ATP7B missense yes c.3890C>G (p. T1297R) 2019 30561139
OMIA 001244-9685 domestic cat Retinal degeneration II CEP290 splicing yes IVS50 + 9T>G 2007 17507457
OMIA 000698-9685 domestic cat Myotonia CLCN1 splicing yes Felis_catus_6.2 A2 g.157306905G>T c.1930+1G>T 2014 25356766 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000119-9685 domestic cat Blood group system AB CMAH regulatory no "an indel in the exon 1 5' UTR" 2007 17553163
OMIA 000119-9685 domestic cat Blood group system AB CMAH regulatory no "2 SNPs upstream of the start" 2007 17553163
OMIA 000119-9685 domestic cat Blood group system AB CMAH indel, small (<=20) no an indel in the exon 1 5' UTR 2007 17553163
OMIA 000119-9685 domestic cat 2019 TYPING PANEL CMAH missense no c.179G>T p.G60V 2016 27755584
OMIA 000119-9685 domestic cat Blood group system AB CMAH missense no c.187A>G p.I63V 2016 27755584
OMIA 000119-9685 domestic cat 2019 TYPING PANEL CMAH missense no c.364C>T p.P122S 2016 27171395
OMIA 000119-9685 domestic cat 2019 TYPING PANEL CMAH deletion, small (<=20) no Felis_catus_6.2 c.1322delT p.Leu441* 2018 30235335
OMIA 000119-9685 domestic cat Blood group system AB CMAH missense no Felis_catus_6.2 B2 g.4587414G>A c.139G>A p.V47M 2007 17553163 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000119-9685 domestic cat 2019 TYPING PANEL CMAH missense no Felis_catus_6.2 B2 g.4590792T>A c.268T>A p.Y89N The original (2007) designation of the c. coordinate was c.265T>A. The revised designation of c.268T>A is taken from Kehl et al. (2019) 2007 17553163 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000119-9685 domestic cat Blood group system AB CMAH missense no Felis_catus_6.2 B2 g.4637820G>A c.1600G>A p.D534N 2007 17553163 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002165-9685 domestic cat Domestic Shorthair Ehlers-Danlos syndrome, classic type, 1 COL5A1 deletion, small (<=20) yes FelCat 9.0 D4 g.93210344delC c.3420delG p.Leu1141SerfsTer134 2018 30246406
OMIA 001621-9685 domestic cat Devon Rex Sphynx Muscular dystrophy-dystroglycanopathy (limb-girdle) COLQ missense yes Felis_catus_8.0 C2 g.133094150G>A c.1190G>A p.Cys397Tyr rs869320615 2015 26327126 26374066 Genomic location obtained via Ensembl's VEP
OMIA 000881-9685 domestic cat Rod-cone dysplasia CRX Rdy deletion, small (<=20) yes p.A182d1 A single base deletion in the cone-rod homeobox-containing gene (CRX). p coordinates obtained from Occelli et al. (2016). 2010 20053974
OMIA 001661-9685 domestic cat Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency CYP11B1 missense yes G>A 2012 22827537
OMIA 000837-9685 domestic cat Vitamin D-deficiency rickets, type I CYP27B1 deletion, small (<=20) yes c.731delG 2009 19138382
OMIA 000837-9685 domestic cat Vitamin D-deficiency rickets, type I CYP27B1 nonsense (stop-gain) yes Felis_catus_6.2 B4 g.86472505G>T c.637G>T p. E213* 2012 22553308 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001081-9685 domestic cat Muscular dystrophy, Duchenne type DMD deletion, gross (>20) yes A deletion of the muscle promoter and first exon and the Purkinje neuronal first exon of the DMD gene 1994 7881288
OMIA 001081-9685 domestic cat Domestic shorthair Muscular dystrophy, Duchenne type DMD deletion, gross (>20) yes 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
OMIA 001776-9685 domestic cat Dihydropyrimidinase deficiency DPYS missense yes c.1303G>A p.G435R 2012 23430934
OMIA 000364-9685 domestic cat Factor XII deficiency F12 deletion, small (<=20) yes c.1321delC p.C441fsX119 2015 24793828
OMIA 000364-9685 domestic cat Domestic shorthair Factor XII deficiency F12 missense yes Felis_catus_6.2 A1 g.173159981G>C c.1631G>C p.G544A 2017 28392508 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000438-9685 domestic cat Haemophilia B F9 nonsense (stop-gain) yes c.??C>T p.R338* 2005 15822564
OMIA 000438-9685 domestic cat Domestic Longhair Haemophilia B F9 missense yes c.??G>A p.C82Y 2005 15822564
OMIA 002064-9685 domestic cat British Shorthair Autoimmune lymphoproliferative syndrome FASLG insertion, small (<=20) yes g.14607400insA c.413_414insA p.Arg140Lysfs*37 2017 27770190
OMIA 000439-9685 domestic cat Maine Coon Persian Ragdoll Somali Long hair FGF5 missense no c.194C>A p.P65H 2007 17433015
OMIA 000439-9685 domestic cat Long hair FGF5 insertion, small (<=20) no c.ins356T 2007 17767004
OMIA 000439-9685 domestic cat Long hair FGF5 deletion, small (<=20) no AM412646 c.474delT 2007 17433015
OMIA 000439-9685 domestic cat Long hair FGF5 missense no Felis_catus_6.2 B1 g.140077554A>C c.475A>C p.T159P 2007 17433015 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000439-9685 domestic cat Norwegian Forest Long hair FGF5 nonsense (stop-gain) no Felis_catus_6.2 B1 g.140089230C>T c.406C>T p.R136* 2007 17767004 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000439-9685 domestic cat Norwegian Forest Long hair FGF5 missense no Felis_catus_6.2 B1 g.140097052T>A c.182T>A p.V61D 2007 17433015 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000420-9685 domestic cat Glycogen storage disease IV GBE1 complex rearrangement yes g. IVS11+1552_IVS12-1339 del6. 2007 17257876
OMIA 000402-9685 domestic cat Gangliosidosis, GM1 GLB1 missense yes Felis_catus_6.2 C2 g.155458074G>C c.1448G>C p.R483P 2008 18353697 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001427-9685 domestic cat Gangliosidosis, GM2, GM2A deficiency GM2A deletion, small (<=20) yes c.516_519delGGTC p.V173Sfs*17 2005 16200419
OMIA 001248-9685 domestic cat Domestic Shorthair Mucolipidosis II GNPTAB nonsense (stop-gain) yes Felis_catus_6.2 B4 c.2644C>T p.Gln882* Wang et al. (2018): "NCBI-RefSeq accession no. XM_003989173.4, Gene ID: 101100231" 2018 30591066
OMIA 000821-9685 domestic cat Primary hyperoxaluria type II (Oxalosis II) GRHPR splicing yes "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4" 2009 Reference not in PubMed; see OMIA 000821-9685 for reference details
OMIA 000667-9685 domestic cat Mucopolysaccharidosis VII GUSB missense yes c.1421T>G and c.1424C>T p.S475A and p.R476W 2015 26118695
OMIA 000667-9685 domestic cat Mucopolysaccharidosis VII GUSB missense yes Felis_catus_6.2 E3 g.15661641G>A c.1051G>A p.E351K 1999 10366443 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001987-9685 domestic cat Japanese domestic Bobtail HES7 missense yes Felis_catus_6.2 E1 g.2819475A>G c.5A>G p.V2A 2016 27030474 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001462-9685 domestic cat Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB splicing yes c.1244-8_1250del15 2009 19231264
OMIA 001462-9685 domestic cat Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB complex rearrangement yes c.1467_1491inv25 p.F488Lfs*4 or p.F488Lfs*4 2004 15081585
OMIA 001462-9685 domestic cat Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) yes c.39delC p.L14Sfs*82 1994 8178934
OMIA 001462-9685 domestic cat Gangliosidosis, GM2, type II (Sandoff or variant 0) HEXB nonsense (stop-gain) yes c.667C>T p. R223* 2007 16872651
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS deletion, small (<=20) yes c.107_110delACAG p.D36Vfs 6 2013 24239138
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS insertion, small (<=20) yes c.189dupT 2010 19934113
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS deletion, small (<=20) yes c.842_844delGAG 2013 24239138
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS missense yes Felis_catus_6.2 D1 g.16391905G>A c.250G>A p.A84T 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS missense yes Felis_catus_6.2 D1 g.16392832 c.445C>T p.R149W 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS splicing yes Felis_catus_6.2 D1 g.16394866G>A c.826-1G>A 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000664-9685 domestic cat Mucopolysaccharidosis I IDUA deletion, small (<=20) yes a 3 bp deletion in the IDUA gene 1999 10356309
OMIA 000595-9685 domestic cat Leukocyte adhesion deficiency, type I ITGB2 ITGB-2 missing exon 2 deletion, gross (>20) yes ICGSC Felis_catus_8.0 C2 g.1715627_1715650delGCCCTCTGGT c.46_58 + 11del 2017 28750142
OMIA 000209-9685 domestic cat Domestic Longhair Coat colour, dominant white KIT insertion, gross (>20) yes B1 "a FERV1 long terminal repeat (LTR) is associated with all Dominant White individuals" 2014 25085922
OMIA 001737-9685 domestic cat Coat colour, white spotting, KIT-related KIT insertion, gross (>20) no "an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene." 2014 25085922
OMIA 001580-9685 domestic cat Feet, white KIT indel, small (<=20) no c.1035_1036delinsCA 2010 21147473
OMIA 001581-9685 domestic cat Curly coat, Devon rex KRT71 complex rearrangement no c.1108-4_1184del;c.1184_1185in This complex variant causes a slicing variation 2010 20953787
OMIA 001712-9685 domestic cat Curly coat, Selkirk rex KRT71 splicing no c.445-1G>C 2013 23770706
OMIA 001583-9685 domestic cat Sphynx hairless KRT71 splicing yes Felis_catus_6.2 B4 g.81502136G>A c.816+1G>A 2010 20953787 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000939-9685 domestic cat Spinal muscular atrophy LIX1 deletion, gross (>20) yes a ~140 kb deletion removing exons 4-6 of LIX1 and all except exon 1 of LNPEP 2006 16899656
OMIA 002221-9685 domestic cat Domestic Shorthair Vitamin D-deficiency rickets, type Ib LOC101093889 deletion, small (<=20) yes c.1386del (p.Phe462Leufs*20) 2019 30777056
OMIA 001684-9685 domestic cat Cornish Rex German Rex Curly/woolly coat, Cornish Rex and German Rex LPAR6 deletion, small (<=20) no c.250_253_delTTTG 2013 23826204
OMIA 001210-9685 domestic cat Hyperlipoproteinaemia LPL missense yes p.G412R 1996 8636438
OMIA 002017-9685 domestic cat Glaucoma 3, primary congenita LTBP2 insertion, small (<=20) yes B3 g.120995236 "a 4-bp insertion in exon 8 located at chrB3: 120995236" 2016 27149523
OMIA 001429-9685 domestic cat Coat colour, tabby LVRN missense no p.D228N 2012 22997338
OMIA 001429-9685 domestic cat Blotched tabby LVRN nonsense (stop-gain) no p.S59* 2012 22997338
OMIA 001429-9685 domestic cat Blotched tabby LVRN nonsense (stop-gain) no p.W841* 2012 22997338
OMIA 000625-9685 domestic cat Mannosidosis, alpha MAN2B1 deletion, small (<=20) yes c.1749_1752delCCAG p.Q584Afs*179 1997 9396732
OMIA 001199-9685 domestic cat Burmese Coat colour, russet MC1R e^r deletion, small (<=20) no c.439_441del p.Phe146del 2017 27671997
OMIA 001199-9685 domestic cat Kurilian Bobtail Coat colour, copal MC1R e^c deletion, small (<=20) no Felis_catus 8.0 c.640_669del p.(Ala214_Ala223del) Genbank accession no. MK890105 2019 31361350
OMIA 001199-9685 domestic cat Norwegian Forest Coat colour, amber MC1R e missense no Felis_catus_6.2 E2 g.63721093G>A c.250G>A p.D84N 2009 19422360 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000031-9685 domestic cat Coat colour, dilute MLPH deletion, small (<=20) no c.83delT 2006 16860533
OMIA 000515-9685 domestic cat Maine Coon Cardiomyopathy, hypertrophic MYBPC3 missense yes c.91G>C p.A31P 2005 16236761
OMIA 000515-9685 domestic cat Ragdoll Cardiomyopathy, hypertrophic MYBPC3 missense yes c.??C>T p.R820W 2007 17521870
OMIA 002212-9685 domestic cat Domestic Shorthair Cardiomyopathy, hypertrophic, MYH7-related MYH7 missense yes c.5647G>A p.(Glu1883Lys) NM_000257.3:c.5647G>A (p.(Glu1883Lys)) 2019 31164718
OMIA 000725-9685 domestic cat Niemann-Pick disease, type C1 NPC1 missense yes Felis_catus_6.2 D3 g.47439721G>C c. 2864G>C p.C955S 2003 12809639 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000725-9685 domestic cat Domestic shorthair Niemann-Pick disease, type C1 NPC1 missense yes Felis_catus_6.2 D3 g.47455793A>C c.1322A>C p.H441P 2017 28233346 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002065-9685 domestic cat Niemann-Pick disease, type C2 NPC2 splicing yes Felis_catus_6.2 B3 g.120939103G>A c.82+5G>A p.G28_S29ins35 2014 25396745 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002185-9685 domestic cat Domestic Shorthair Inflammatory linear verrucous epidermal nevi NSDHL missense yes FelCat 9.0 X c.397A>G p.Ser133Gly De Lucia et al. (2019): XM_004000985.5:c.397A>G; XP_004001034.1:p.(Ser133Gly) 2019 30474267
OMIA 000807-9685 domestic cat Polycystic kidney disease PKD1 nonsense (stop-gain) yes c.10063C>A p.?3284* 2004 15466259
OMIA 000844-9685 domestic cat Domestic shorthair Pyruvate kinase deficiency of erythrocyte PKLR splicing yes c.693+304G>A 2012 23110753
OMIA 000810-9685 domestic cat Polydactyly SHH regulatory yes c.257G>C CC(G-C)GTG 2008 18156157
OMIA 000810-9685 domestic cat Polydactyly SHH regulatory yes c.479A>G AGACAC(A-G)GAAATGAG 2008 18156157
OMIA 000810-9685 domestic cat Polydactyly SHH regulatory yes c.481A>T AGACACAG(A-T)AATGAG 2008 18156157
OMIA 000256-9685 domestic cat Domestic shorthair Cystinuria, type I - A SLC3A1 missense yes Felis_catus_6.2 A3 g.66470414C>T c.1342C>T p.R448W 2015 25417848 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002023-9685 domestic cat Maine Coon Siamese Sphinx Cystinuria, type B SLC7A9 missense yes Felis_catus_6.2 E2 g.19520350G>A c.706G>A p.D236N 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002023-9685 domestic cat Maine Coon Cystinuria, type B SLC7A9 missense yes Felis_catus_6.2 E2 g.19521709C>T c.881T>A p.V294E 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002023-9685 domestic cat Cystinuria, type B SLC7A9 missense yes Felis_catus_6.2 E2 g.19530911C>T c.1175C>T p.T392M 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000975-9685 domestic cat Tail, short T deletion, small (<=20) yes c.1169delC 2013 23949773
OMIA 000975-9685 domestic cat Tail, short T deletion, small (<=20) yes c.1199delC 2013 23949773
OMIA 000975-9685 domestic cat Tail, short T deletion, small (<=20) yes c.998delT 2013 23949773
OMIA 000975-9685 domestic cat Tail, short T indel, small (<=20) no c.998_1014dup17delGCC 2013 23949773
OMIA 002219-9685 domestic cat Domestic Shorthair Hypogonadotropic hypogonadism, TAC3-related TAC3 missense yes Felis_catus_9.0 B4 g.85,517,451C>T c.220G>A p.(Val74Met) Hug et al. (2019): XM_003988924.5:c.220G>A; XP_003988973.1:p.(Val74Met) 2019 31615056
OMIA 001617-9685 domestic cat Sweet taste, lack of TAS1R2 deletion, gross (>20) yes the TAS1R2 gene has "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
OMIA 001617-9685 domestic cat Sweet taste, lack TAS1R2 deletion, gross (>20) yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
OMIA 000536-9685 domestic cat Domestic shorthair Hypothyroidism TPO missense yes c.1333G>A p.A445T 2015 Reference not in PubMed; see OMIA 000536-9685 for reference details
OMIA 000319-9685 domestic cat Scottish Fold Ears, folded TRPV4 missense yes Felis_catus_6.2 D3 g.25138541G>T c.1024G>T p.V342F 2016 27063440 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000202-9685 domestic cat Coat colour, complete albinism TYR c deletion, small (<=20) yes D1 "a cytosine deletion in TYR at position 975 in exon 2" 2006 16573534
OMIA 000202-9685 domestic cat Siamese Siamese coat colour TYR c^s missense no D1 c. 940G>A p.G302R 2005 15771720
OMIA 000202-9685 domestic cat Albinism TYR c^2 nonsense (stop-gain) yes Felis_catus_6.2 D1 g.46311692C>T c.1204C>T p.R402* 2017 27634063 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000202-9685 domestic cat Burmese Burmese coat colour TYR c^b missense no Felis_catus_6.2 D1 g.46406472G>T c.679G>T p.G227W 2005 15771720 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000202-9685 domestic cat Burmese Mocha TYR c^m duplication 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
OMIA 001249-9685 domestic cat Chocolate TYRP1 splicing no p.Ala420_Asp421ins17/18 Lyons et al. (2005): "An intron 6 mutation that potentially disrupts the exon 6 downstream splice-donor recognition site" Li et al. (2018; Pigment Cell Melanoma Res., 1–10): "donor splice site mutation. p.Ala420_Asp421ins17/18" 2005 16104383
OMIA 001249-9685 domestic cat Cinnamon (light brown) TYRP1 nonsense (stop-gain) no c.298C>T p.R100* 2005 16104383
OMIA 001586-9685 domestic cat Deficient acetaminophen glucuronidation UGT1A6 complex rearrangement yes "UGT1A6 is a pseudogene" 2000 10862526
OMIA 001175-9685 domestic cat Porphyria, congenital erythropoietic UROS missense yes c.140C>T + c.331G>A p.S47F + p.G111S 2010 20485863
OMIA 001759-9685 domestic cat Hypokalaemic periodic paralysis WNK4 nonsense (stop-gain) yes c.2899C>T p.Q??* 2012 23285264
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Overall Statistics
Total number of variants 111
Variants with genomic location 39 (35.1% )
Variants in a variant database, i.e. with rs ID 1 (0.9%)
Variant Type Count Percent
complex rearrangement 4 3.6%
deletion, gross (>20) 6 5.4%
deletion, small (<=20) 23 20.7%
duplication 1 0.9%
indel, small (<=20) 3 2.7%
insertion, gross (>20) 2 1.8%
insertion, small (<=20) 4 3.6%
missense 42 37.8%
nonsense (stop-gain) 11 9.9%
regulatory 5 4.5%
splicing 10 9.0%
Year First Reported Count Percent
1994 2 1.8%
1995 0 0.0%
1996 2 1.8%
1997 1 0.9%
1998 0 0.0%
1999 2 1.8%
2000 1 0.9%
2001 0 0.0%
2002 0 0.0%
2003 2 1.8%
2004 2 1.8%
2005 10 9.0%
2006 3 2.7%
2007 16 14.4%
2008 4 3.6%
2009 4 3.6%
2010 6 5.4%
2011 0 0.0%
2012 8 7.2%
2013 11 9.9%
2014 5 4.5%
2015 5 4.5%
2016 10 9.0%
2017 6 5.4%
2018 3 2.7%
2019 8 7.2%