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Human Gene Search Results


Unique ID Gene Symbol Gene Name Chromosome Loc Genetic Category Gene Ranking Biallelic # of Variants Associated Disorders # of Reports Primary Reference Display
GEN268 ABAT 4-aminobutyrate aminotransferase 16p13.2 Genetic Association
3 5 Barnby G , et al. 2005 Edit
GEN672 ACTN4 actinin alpha 4 19q13.2 Rare single gene variant
3 4 Li J , et al. 2015 Edit
GEN002 ADA adenosine deaminase 20q13.12 Genetic Association
5 7 Bottini N , et al. 2001 Edit
GEN470 ADCY5 Adenylate cyclase 5 3q21.1 Rare Single Gene variant
7 6 O'Roak BJ , et al. 2012 Edit
GEN274 ADK adenosine kinase 10q22.2 Rare Single Gene variant
Yes 2 2 Najmabadi H , et al. 2011 Edit
GEN471 ADNP Activity-dependent neuroprotector homeobox 20q13.13 Rare Single Gene variant
68 39 O'Roak BJ , et al. 2012 Edit
GEN003 ADORA2A adenosine A2a receptor 22q11.23 Genetic association
2 7 Freitag CM , et al. 2009 Edit
GEN004 ADRB2 adrenergic, beta-2-, receptor, surface 5q32 Genetic Association
4 10 Cheslack-Postava K , et al. 2007 Edit
GEN005 ADSL adenylosuccinate lyase 22q13.1 Rare Single Gene variant
5 6 Sivendran S , et al. 2004 Edit
GEN289 AFF2 AF4/FMR2 family, member 2 Xq28 Syndromic
35 15 Abrams MT , et al. 1997 Edit
GEN006 AFF4 AF4/FMR2 family, member 4 5q31.1 Rare Single Gene variant
4 7 Sanders SJ , et al. 2012 Edit
GEN047 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 2q37.2 Rare Single Gene variant, Genetic Association
13 8 Wassink TH , et al. 2005 Edit
GEN333 AGBL4 ATP/GTP binding protein-like 4 1p33 Rare Single Gene variant
16 3 Pinto D , et al. 2010 Edit
GEN253 AGMO alkylglycerol monooxygenase 7p21.2 Genetic Association
8 6 Sebat J , et al. 2007 Edit
GEN007 AGTR2 angiotensin II receptor, type 2 Xq23 Rare Single Gene variant
6 3 Vervoort VS , et al. 2002 Edit
GEN008 AHI1 Abelson helper integration site 1 6q23.3 Rare Single Gene variant
27 19 Alvarez Retuerto AI , et al. 2008 Edit
GEN009 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) 6p22.3 Syndromic
Yes 8 10 Pearl PL , et al. 2003 Edit
GEN587 ANK2 Ankyrin 2, neuronal 4q25-q26 Rare Single Gene variant
76 14 Iossifov I , et al. 2012 Edit
GEN406 ANK3 ankyrin 3 10q21.2 Genetic Association
34 26 Bi C , et al. 2012 Edit
GEN011 ANKRD11 ankyrin repeat domain 11 16q24.3 Rare Single Gene variant
67 43 Marshall CR , et al. 2008 Edit
GEN609 ANXA1 Annexin A1 9q21.13 Rare single gene variant
12 2 Correia CT , et al. 2014 Edit
GEN012 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 15q13.1 Rare Single Gene variant
11 7 Babatz TD , et al. 2009 Edit
GEN013 APC adenomatosis polyposis coli 5q22.2 Genetic Association
2 9 Barber JC , et al. 1994 Edit
GEN655 APH1A APH1A gamma secretase subunit 1q21.2 Rare single gene variant
3 2 De Rubeis S , et al. 2014 Edit
GEN570 APP Amyloid beta (A4) precursor protein 21q21.3 Functional
0 3 Bailey AR , et al. 2013 Edit
GEN014 AR androgen receptor Xq12 Genetic Association
3 6 Henningsson S , et al. 2009 Edit
GEN816 ARHGAP32 Rho GTPase activating protein 32 11q24.3 Multigenic CNV
24 7 Akshoomoff N , et al. 2014 Edit
GEN713 ARHGAP33 Rho GTPase activating protein 33 19q13.12 Functional
2 3 Schuster S , et al. 2015 Edit
GEN715 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 Xq11.1-q11.2 Rare single gene variant
26 10 Machado CO , et al. 2015 Edit
GEN357 ARID1B AT-rich interaction domain 1B 6q25.3 Rare single gene variant
107 44 Nord AS , et al. 2011 Edit
GEN016 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 15q25.1 Syndromic
7 11 Chakrabarti B , et al. 2009 Edit
GEN017 ARX aristaless related homeobox Xp21.3 Rare single gene variant
36 17 Sherr EH 2003 Edit
GEN642 ASH1L Ash1 (absent, small, or homeotic)-like (Drosophila) 1q22 Rare single gene variant
65 15 Willsey AJ , et al. 2013 Edit
GEN020 ASTN2 astrotactin 2 9q33.1 Rare Single Gene variant
29 13 Glessner JT , et al. 2009 Edit
GEN577 ASXL3 Additional sex combs like 3 (Drosophila) 18q12.1 Syndromic
63 23 Dinwiddie DL , et al. 2013 Edit
GEN021 ATP10A Probable phospholipid-transporting ATPase VA 15q12 Genetic Association
11 9 Nurmi EL , et al. 2003 Edit
GEN829 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19q13.2 Syndromic
14 13 Demos MK , et al. 2014 Edit
GEN273 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 3p25.3 Genetic Association
13 9 Carayol J , et al. 2011 Edit
GEN831 ATP8A1 ATPase phospholipid transporting 8A1 4p13 Rare single gene variant
2 3 Kerr DJ , et al. 2016 Edit
GEN411 ATRNL1 Attractin-like 1 10q25.3 Rare single gene variant
3 3 Stark Z , et al. 2010 Edit
GEN288 ATRX alpha thalassemia/mental retardation syndrome X-linked Xq21.1 Syndromic
34 21 Gibbons R 2006 Edit
GEN384 ATXN7 Ataxin 7 3p14.1 Rare single gene variant
1 1 van Daalen E , et al. 2011 Edit
GEN022 AUTS2 autism susceptibility candidate 2 7q11.22 Rare Single Gene variant
87 38 Sultana R , et al. 2002 Edit
GEN023 AVPR1A arginine vasopressin receptor 1A 12q14.2 Rare Single Gene variant, Genetic Association
35 22 Yirmiya N , et al. 2006 Edit
GEN024 BAIAP2 BAI1-associated protein 2 17q25.3 Genetic Association
6 11 Toma C , et al. 2010 Edit
GEN423 BCKDK Branched chain ketoacid dehydrogenase kinase 16p11.2 Rare single gene variant
Yes 6 4 Novarino G , et al. 2012 Edit
GEN643 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 2p16.1 Rare single gene variant
32 16 Iossifov I , et al. 2012 Edit
GEN625 BDNF Brain-derived neurotrophic factor 11p14.1 Functional
1 12 Kyzar EJ , et al. 2012 Edit
GEN425 BIN1 bridging integrator 1 2q14.3 Rare single gene variant
4 3 Connolly JJ , et al. 2012 Edit
GEN702 BIRC6 Baculoviral IAP repeat containing 6 2p22.3 Rare single gene variant
42 10 Iossifov I , et al. 2012 Edit
GEN595 BRAF v-raf murine sarcoma viral oncogene homolog B 7q34 Syndromic
12 8 Alfieri P , et al. 2014 Edit
GEN337 BRCA2 breast cancer 2, early onset 13q13.1 Rare Single Gene variant
7 5 Neale BM , et al. 2012 Edit
GEN029 C4B complement component 4B 6p21.33 Genetic Association
2 6 Odell D , et al. 2005 Edit
GEN030 CA6 carbonic anhydrase VI 1p36.23 Rare Single Gene variant
4 6 Bucan M , et al. 2009 Edit
GEN031 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 Syndromic
41 45 Splawski I , et al. 2004 Edit
GEN813 CACNA1E calcium voltage-gated channel subunit alpha1 E 1q25.3 Rare single gene variant
39 10 O'Roak BJ , et al. 2012 Edit
GEN033 CACNA1F calcium channel, voltage-dependent, alpha 1F Xp11.23 Genetic Association
6 7 Strom TM , et al. 1998 Edit
GEN034 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 17q21.33 Genetic Association
37 20 Strom SP , et al. 2009 Edit
GEN035 CACNA1H calcium channel, voltage-dependent, alpha 1H subunit 16p13.3 Rare Single Gene variant
36 27 Splawski I , et al. 2006 Edit
GEN612 CACNB2 Calcium channel, voltage-dependent, beta 2 subunit 10p12.33-p12.31 Genetic association
6 4 Breitenkamp AF , et al. 2014 Edit
GEN036 CADM1 cell adhesion molecule 1 11q23.3 Rare Single Gene variant
5 9 Zhiling Y , et al. 2008 Edit
GEN037 CADPS2 Ca2+-dependent activator protein for secretion 2 7q31.32 Rare Single Gene variant
23 12 Cisternas FA , et al. 2003 Edit
GEN555 CAPRIN1 Cell cycle associated protein 1 11p13 Functional
2 4 Jiang YH , et al. 2013 Edit
GEN038 CASC4 cancer susceptibility candidate 4 15q15.3 Rare Single Gene variant
7 4 Pinto D , et al. 2010 Edit
GEN621 CC2D1A Coiled-coil and C2 domain containing 1A 19p13.12 Rare single gene variant
Yes 22 12 Manzini MC , et al. 2014 Edit
GEN041 CD44 CD44 molecule (Indian blood group) 11p13 Functional
2 5 Hu VW , et al. 2006 Edit
GEN657 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) 14q32.32 Rare single gene variant
20 7 O'Roak BJ , et al. 2012 Edit
GEN042 CDH10 cadherin 10, type 2 (T2-cadherin) 5p14.2-p14.1 Genetic Association
17 10 Wang K , et al. 2009 Edit
GEN615 CDH11 cadherin 11 16q21 Rare Single Gene variant/genetic association
8 4 Crepel A , et al. 2014 Edit
GEN043 CDH22 cadherin-like 22 20q13.12 Genetic Association
2 4 Wang K , et al. 2009 Edit
GEN044 CDH8 cadherin 8, type 2 16q21 Rare Single Gene variant
9 10 Pagnamenta AT , et al. 2010 Edit
GEN045 CDH9 cadherin 9, type 2 (T1-cadherin) 5p14.1 Genetic Association
14 7 Wang K , et al. 2009 Edit
GEN046 CDKL5 cyclin-dependent kinase-like 5 Xp22.13 Syndromic
Yes 98 36 Weaving LS , et al. 2004 Edit
GEN257 CEP41 testis specific, 14 7q32.2 Rare Single Gene variant
13 5 Korvatska O , et al. 2011 Edit
GEN548 CHD2 Chromodomain helicase DNA binding protein 2 15q26.1 Multigenic CNV
68 36 Carvill GL , et al. 2013 Edit
GEN280 CHD7 chromodomain helicase DNA binding protein 7 8q12.2 Syndromic
35 28 Vissers LE , et al. 2004 Edit
GEN334 CHD8 chromodomain helicase DNA binding protein 8 14q11.2 Multigenic CNV
146 49 O'Roak BJ , et al. 2012 Edit
GEN292 CHRNA7 cholinergic receptor, nicotinic, alpha 7 15q13.3 Multigenic CNV
31 13 Mikhail FM , et al. 2011 Edit
GEN579 CLSTN3 Calsyntenin 3 12p13.31 Functional
2 3 Pettem KL , et al. 2013 Edit
GEN349 CLTCL1 clathrin, heavy chain-like 1 22q11.21 Rare single gene variant
Yes 22 6 Chahrour MH , et al. 2012 Edit
GEN382 CMIP c-Maf inducing protein 16q23.2-q23.3 Genetic Association
20 6 Van der Aa N , et al. 2012 Edit
GEN049 CNR1 cannabinoid receptor 1 (brain) 6q15 Genetic Association
33 7 Chakrabarti B , et al. 2006 Edit
GEN050 CNTN4 contactin 4 3p26.3-p26.2 Syndromic
21 21 Roohi J , et al. 2008 Edit
GEN386 CNTN6 Contactin 6 3p26.3 Rare single gene variant
61 13 van Daalen E , et al. 2011 Edit
GEN051 CNTNAP2 contactin associated protein-like 2 7q35-q36.1 Syndromic
129 67 Arking DE , et al. 2008 Edit
GEN616 CNTNAP4 Contactin associated protein-like 4 16q23.1 Rare Single Gene variant
19 11 Karayannis T , et al. 2014 Edit
GEN052 CNTNAP5 contactin associated protein-like 5 2q14.3 Genetic Association
18 12 Pagnamenta AT , et al. 2010 Edit
GEN285 CREBBP CREB binding protein 16p13.3 Syndromic
90 28 Barnby G , et al. 2005 Edit
GEN330 CSNK1D casein kinase 1, delta 17q25.3 Rare Single Gene variant
3 2 Pinto D , et al. 2010 Edit
GEN549 CTCF CCCTC-binding factor 16q22.1 Functional
52 14 Ishihara K , et al. 2006 Edit
GEN053 CTNNA3 catenin (cadherin-associated protein), alpha 3 10q21.3 Genetic Association
Yes 57 15 Wang K , et al. 2009 Edit
GEN472 CTNNB1 catenin beta 1 3p22.1 Rare Single Gene variant
34 21 O'Roak BJ , et al. 2012 Edit
GEN711 CTNND2 Catenin (cadherin-associated protein), delta 2 5p15.2 Rare single gene variant
18 5 Turner TN , et al. 2015 Edit
GEN054 CTTNBP2 cortactin binding protein 2 7q31.31 Rare Single Gene variant
40 8 Cheung J , et al. 2001 Edit
GEN409 CUL3 Cullin 3 2q36.2 Rare single gene variant
20 21 O'Roak BJ , et al. 2012 Edit
GEN056 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 8q24.3 Syndromic
2 4 Chakrabarti B , et al. 2009 Edit
GEN058 DAPK1 death-associated protein kinase 1 9q21.33 Functional
4 5 Hu VW , et al. 2006 Edit
GEN060 DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) 3q26.33 Functional
0 3 Mas C , et al. 2000 Edit
GEN061 DCX doublecortin Xq23 Rare Single Gene variant
9 10 Vourc'h P , et al. 2002 Edit
GEN332 DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 Xp22.11 Rare Single Gene variant
7 3 Pinto D , et al. 2010 Edit
GEN610 DEAF1 DEAF1 transcription factor 11p15.5 Rare single gene variant
54 17 Vulto-van Silfhout AT , et al. 2014 Edit
GEN825 DENR density-regulated protein 12q24.31 Rare single gene variant
3 3 Neale BM , et al. 2012 Edit
GEN675 DGKZ diacylglycerol kinase zeta 11p11.2 Rare single gene variant
2 2 Li J , et al. 2015 Edit
GEN063 DHCR7 7-dehydrocholesterol reductase 11q13.4 Syndromic
24 17 Tierney E , et al. 2001 Edit
GEN644 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) 21q22.3 Rare single gene variant
7 6 Iossifov I , et al. 2012 Edit
GEN065 DISC1 disrupted in schizophrenia 1 1q42.2 Syndromic
31 34 Kilpinen H , et al. 2007 Edit
GEN676 DLG1 discs large MAGUK scaffold protein 1 3q29 Rare single gene variant
10 4 Li J , et al. 2015 Edit
GEN412 DLG4 discs large MAGUK scaffold protein 4 17p13.1 Functional
13 11 Feyder M , et al. 2010 Edit
GEN066 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 8p23.3 Rare Single Gene variant
25 12 Marshall CR , et al. 2008 Edit
GEN067 DLX1 distal-less homeobox 1 2q31.1 Genetic Association
5 9 Liu X , et al. 2008 Edit
GEN068 DLX2 distal-less homeobox 2 2q31.1 Genetic Association
2 11 Liu X , et al. 2008 Edit
GEN069 DLX6 distal-less homeobox 6 7q21.3 Rare Single Gene variant
2 9 Nakashima N , et al. 2009 Edit
GEN070 DMD dystrophin (muscular dystrophy, Duchenne and Becker types) Xp21.2-p21.1 Syndromic
35 37 Wu JY , et al. 2006 Edit
GEN071 DMPK dystrophia myotonica-protein kinase 19q13.32 Syndromic
4 8 Ekstrm AB , et al. 2008 Edit
GEN736 DMXL2 Dmx-like 2 15q21.2 Rare single gene variant
6 6 Iossifov I , et al. 2014 Edit
GEN427 DNM1L Dynamin 1-like 12p11.21 Functional
5 6 Anitha A , et al. 2012 Edit
GEN603 DOCK4 Dedicator of cytokinesis 4 7q31.1 Genetic association/multigenic CNV
9 9 Maestrini E , et al. 2009 Edit
GEN072 DPP10 Dipeptidyl-peptidase 10 2q14.1 Rare Single Gene variant
13 11 Marshall CR , et al. 2008 Edit
GEN073 DPP6 dipeptidyl-peptidase 6 7q36.2 Genetic Association
25 25 Marshall CR , et al. 2008 Edit
GEN074 DPYD dihydropyrimidine dehydrogenase 1p21.3 Rare Single Gene variant
28 13 Marshall CR , et al. 2008 Edit
GEN576 DRD1 Dopamine receptor D1 5q35.2 Genetic association
4 4 Hettinger JA , et al. 2008 Edit
GEN358 DRD2 Dopamine receptor D2 11q23.2 Rare single gene variant
8 6 Hettinger JA , et al. 2012 Edit
GEN075 DRD3 dopamine receptor D3 3q13.31 Genetic Association
4 8 de Krom M , et al. 2008 Edit
GEN645 DSCAM Down syndrome cell adhesion molecule 21q22.2 Rare single gene variant
20 8 Iossifov I , et al. 2014 Edit
GEN836 DUSP15 dual specificity phosphatase 15 20q11.21 Rare single gene variant
7 4 Tian Y , et al. 2016 Edit
GEN796 DVL1 Dishevelled segment polarity protein 1 1p36.33 Functional
0 3 Lijam N , et al. 1997 Edit
GEN797 DVL3 Dishevelled segment polarity protein 3 3q27.1 Rare single gene variant
1 3 Dong S , et al. 2014 Edit
GEN516 DYDC1 DPY30 domain containing 1 10q23.1 Multigenic CNV
9 2 Girirajan S , et al. 2013 Edit
GEN367 DYRK1A Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13 Syndromic
125 42 O'Roak BJ , et al. 2012 Edit
GEN344 EHMT1 Euchromatic histone-lysine N-methyltransferase 1 9q34.3 Syndromic
25 23 Talkowski ME , et al. 2012 Edit
GEN077 EIF4E eukaryotic translation initiation factor 4E 4q23 Rare single gene variant
8 12 Neves-Pereira M , et al. 2009 Edit
GEN479 EIF4EBP2 Eukaryotic translation initiation factor 4E binding protein 2 10q22.1 Functional
0 1 Gkogkas CG , et al. 2012 Edit
GEN826 ELAVL2 ELAV like neuron-specific RNA binding protein 2 9p21.3 Rare single gene variant
5 5 Iossifov I , et al. 2014 Edit
GEN282 EML1 echinoderm microtubule associated protein like 1 14q32.2 Rare Single Gene variant
6 2 Schaaf CP , et al. 2011 Edit
GEN078 EN2 engrailed homolog 2 7q36.3 Genetic Association
11 23 Gharani N , et al. 2004 Edit
GEN308 EP300 E1A binding protein p300 22q13.2 Syndromic
32 17 Vaags AK , et al. 2012 Edit
GEN353 EP400 E1A binding protein p400 12q24.33 Rare single gene variant
Yes 52 6 Chahrour MH , et al. 2012 Edit
GEN365 EPC2 Enhancer of polycomb homolog 2 (Drosophila) 2q23.1 Rare single gene variant
3 4 Jaillard S , et al. 2008 Edit
GEN410 EPHB2 EPH receptor B2 1p36.12 Rare single gene variant
9 4 Sanders SJ , et al. 2012 Edit
GEN081 ERBB4 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) 2q34 Rare Single Gene variant
13 15 Pinto D , et al. 2010 Edit
GEN404 ERG ERG, ETS transcription factor 21q22.2 Genetic association
1 1 Anney R , et al. 2012 Edit
GEN838 ERMN ermin 2q24.1 Rare single gene variant
8 1 Homs A , et al. 2016 Edit
GEN082 ESR1 estrogen receptor 1 6q25.1-q25.2 Syndromic
4 10 Chakrabarti B , et al. 2009 Edit
GEN083 ESR2 estrogen receptor 2 (ER beta) 14q23.2-q23.3 Syndromic
5 9 Chakrabarti B , et al. 2009 Edit
GEN680 EXOC5 exocyst complex component 5 14q22.3 Rare single gene variant
2 2 Li J , et al. 2015 Edit
GEN681 EXOC6 exocyst complex component 6 10q23.33 Rare single gene variant
2 1 Li J , et al. 2015 Edit
GEN361 EXT1 Exostosin 1 8q24.11 Rare single gene variant
5 6 Li H , et al. 2002 Edit
GEN086 FABP5 fatty acid binding protein 5 (psoriasis-associated) 8q21.13 Rare Single Gene variant, Genetic Association
4 7 Maekawa M , et al. 2010 Edit
GEN087 FABP7 fatty acid binding protein 7, brain 6q22.31 Genetic Association
10 7 Maekawa M , et al. 2010 Edit
GEN589 FAN1 FANCD2/FANCI-associated nuclease 1 15q13.3 Rare single gene variant
4 1 Ionita-Laza I , et al. 2013 Edit
GEN338 FAT1 FAT atypical cadherin 1 4q35.2 Rare Single Gene variant
8 5 Neale BM , et al. 2012 Edit
GEN088 FBXO33 F-box protein 33 14q21.1 Genetic Association
2 3 Wang K , et al. 2009 Edit
GEN089 FBXO40 F-box protein 40 3q13.33 Genetic Association
3 4 Glessner JT , et al. 2009 Edit
GEN090 FEZF2 FEZ family zinc finger 2 3p14.2 Genetic Association
5 9 Wang K , et al. 2009 Edit
GEN091 FHIT fragile histidine triad gene 3p14.2 Genetic Association
19 12 Sebat J , et al. 2007 Edit
GEN093 FMR1 fragile X mental retardation 1 Xq27.3 Functional
34 42 Rogers SJ , et al. 2002 Edit
GEN094 FOXG1 Forkhead box G1 14q12 Syndromic
69 26 Kortm F , et al. 2011 Edit
GEN095 FOXP1 forkhead box P1 3p13 Rare Single Gene variant
124 49 O'Roak BJ , et al. 2011 Edit
GEN096 FOXP2 forkhead box P2 7q31.1 Rare single gene variant
81 42 Gong X , et al. 2004 Edit
GEN097 FRK fyn-related kinase 6q22.1 Genetic Association
3 3 Wang K , et al. 2009 Edit
GEN624 GABRA1 Gamma-aminobutyric acid (GABA) A receptor, alpha 1 5q34 Functional
5 8 Fatemi SH , et al. 2008 Edit
GEN099 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 4p12 Genetic Association
9 6 Ma DQ , et al. 2005 Edit
GEN100 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 4p12 Genetic Association
6 6 Ma DQ , et al. 2005 Edit
GEN101 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 15q12 Genetic Association
Yes 77 37 Cook EH Jr , et al. 1998 Edit
GEN480 GABRQ Gamma-aminobutyric acid (GABA) A receptor, theta Xq28 Rare Single Gene variant
2 2 Piton A , et al. 2012 Edit
GEN742 GADD45B Growth arrest and DNA-damage-inducible, beta 19p13.3 Functional
1 4 Garbett K , et al. 2008 Edit
GEN102 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 2q23.3-q24.1 Rare Single Gene variant
5 4 Bucan M , et al. 2009 Edit
GEN414 GAP43 Growth associated protein 43 3q13.31 Functional
0 1 Zaccaria KJ , et al. 2010 Edit
GEN646 GIGYF1 GRB10 interacting GYF protein 1 7q22.1 Rare single gene variant
10 7 Iossifov I , et al. 2014 Edit
GEN103 GLO1 glyoxalase I 6p21.2 Genetic Association
7 10 Junaid MA , et al. 2004 Edit
GEN105 GNAS GNAS complex locus 20q13.32 Rare Single Gene variant, Genetic Association
12 8 Kim SJ , et al. 2000 Edit
GEN304 GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like 22q11.21 Rare Single Gene variant
7 2 Chen YZ , et al. 2011 Edit
GEN505 GPHN Gephyrin 14q23.3 Rare single gene variant
13 8 Prasad A , et al. 2013 Edit
GEN489 GPR37 G protein-coupled receptor 37 7q31.33 Rare single gene variant
9 2 Fujita-Jimbo E , et al. 2012 Edit
GEN108 GPX1 glutathione peroxidase 1 3p21.31 Genetic Association
1 5 Ming X , et al. 2009 Edit
GEN283 GRID2 glutamate receptor, ionotropic, delta 2 4q22.1-q22.2 Rare Single Gene variant
23 9 Schaaf CP , et al. 2011 Edit
GEN109 GRIK2 glutamate ionotropic receptor kainate type subunit 2 6q16.3 Genetic Association
21 18 Jamain S , et al. 2002 Edit
GEN626 GRIN1 Glutamate receptor, ionotropic, N-methyl D-aspartate 1 9q34.3 Functional
Yes 48 17 Gandal MJ , et al. 2012 Edit
GEN110 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 16p13.2 Genetic Association
188 39 Barnby G , et al. 2005 Edit
GEN111 GRIN2B glutamate receptor, inotropic, N-methyl D-apartate 2B 12p13.1 Genetic Association
164 53 O'Roak BJ , et al. 2011 Edit
GEN112 GRIP1 glutamate receptor interacting protein 1 12q14.3 Rare Single Gene variant, Genetic Association
12 13 Mejias R , et al. 2011 Edit
GEN355 GRM5 glutamate metabotropic receptor 5 11q14.2-q14.3 Rare single gene variant
22 7 Iossifov I , et al. 2012 Edit
GEN114 GRPR Gastrin-releasing peptide receptor Xp22.2 Genetic Association
6 8 Ishikawa-Brush Y , et al. 1997 Edit
GEN416 GSK3B Glycogen synthase kinase 3 beta 3q13.33 Functional
1 4 Mines MA , et al. 2010 Edit
GEN115 GSTM1 glutathione S-transferase M1 1p13.3 Genetic Association
1 3 Buyske S , et al. 2006 Edit
GEN116 GTF2I general transcription factor IIi 7q11.23 Rare Single Gene variant
2 5 Malenfant P , et al. 2011 Edit
GEN430 HCFC1 host cell factor C1 Xq28 Syndromic
19 9 Huang L , et al. 2012 Edit
GEN611 HCN1 Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 5p12 Rare single gene variant
44 8 Nava C , et al. 2014 Edit
GEN117 HDAC4 histone deacetylase 4 2q37.3 Syndromic
12 16 Williams SR , et al. 2010 Edit
GEN482 HDAC6 histone deacetylase 6 Xp11.23 Rare Single Gene variant
1 6 Piton A , et al. 2012 Edit
GEN118 HEPACAM hepatic and glial cell adhesion molecule 11q24.2 Syndromic
33 10 Lpez-Hernndez T , et al. 2011 Edit
GEN431 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 15q13.1 Rare single gene variant
Yes 7 8 Puffenberger EG , et al. 2012 Edit
GEN119 HLA-A major histocompatibility complex, class I, A 6p22.1 Genetic Association
7 10 Torres AR , et al. 2006 Edit
GEN303 HMGN1 high mobility group nucleosome binding domain 1 21q22.2 Genetic Association
11 1 Abuhatzira L , et al. 2011 Edit
GEN356 HOMER1 Homer homolog 1 (Drosophila) 5q14.1 Rare single gene variant
8 5 Kelleher RJ 3rd , et al. 2012 Edit
GEN122 HOXA1 homeobox A1 7p15.2 Genetic Association
19 15 Ingram JL , et al. 2000 Edit
GEN123 HOXB1 homeobox B1 17q21.32 Genetic Association
0 8 Ingram JL , et al. 2000 Edit
GEN124 HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 11p15.5 Rare Single Gene variant
18 12 Hrault J , et al. 1993 Edit
GEN125 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 6q21-q22.1 Genetic Association
4 7 Wang K , et al. 2009 Edit
GEN126 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 1q32.2 Syndromic
1 8 Chakrabarti B , et al. 2009 Edit
GEN127 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B 6q14.1 Genetic Association
2 6 Orabona GM , et al. 2008 Edit
GEN128 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A 13q14.2 Genetic Association
12 10 Veenstra-VanderWeele J , et al. 2002 Edit
GEN130 HTR3C 5-hydroxytryptamine (serotonin) receptor 3, family member C 3q27.1 Genetic Association
8 6 Rehnstrm K , et al. 2008 Edit
GEN432 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase Xp11.22 Syndromic
35 14 Nava C , et al. 2012 Edit
GEN296 ICA1 islet cell autoantigen 1 7p21.3 Rare single gene variant
13 8 Salyakina D , et al. 2011 Edit
GEN133 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 Xp21.3-p21.2 Rare single gene variant
23 22 Bhat SS , et al. 2007 Edit
GEN302 IL1RAPL2 interleukin 1 receptor accessory protein-like 2 Xq22.3 Genetic Association
4 2 Chung RH , et al. 2011 Edit
GEN134 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 7q31.1 Rare single gene variant
26 14 Petek E , et al. 2001 Edit
GEN135 INPP1 inositol polyphosphate-1-phosphatase 2q32.2 Genetic Association
3 4 Serajee FJ , et al. 2003 Edit
GEN137 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 17q21.32 Genetic association
10 15 Weiss LA , et al. 2006 Edit
GEN790 JAKMIP1 Janus kinase and microtubule interacting protein 1 4p16.1 Functional
5 8 Berg JM , et al. 2015 Edit
GEN139 JMJD1C jumonji domain containing 1C 10q21.3 Rare single gene variant
11 8 Castermans D , et al. 2007 Edit
GEN764 KAT2B K(lysine) acetyltransferase 2B 3p24.3 Rare single gene variant
7 6 Sanders SJ , et al. 2015 Edit
GEN369 KATNAL2 Katanin p60 subunit A-like 2 18q21.1 Rare Single Gene variant
21 11 Sanders SJ , et al. 2012 Edit
GEN433 KCND2 potassium voltage-gated channel subfamily D member 2 7q31.31 Rare single gene variant
8 6 Connolly JJ , et al. 2012 Edit
GEN140 KCNJ10 potassium voltage-gated channel subfamily J member 10 1q23.2 Genetic Association
14 11 Sicca F , et al. 2011 Edit
GEN141 KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 10q22.3 Rare single gene variant
21 21 Laumonnier F , et al. 2006 Edit
GEN553 KCNQ2 potassium voltage-gated channel subfamily Q member 2 20q13.33 Genetic association
54 24 Jiang YH , et al. 2013 Edit
GEN536 KCNQ3 potassium voltage-gated channel subfamily Q member 3 8q24.22 Genetic association
22 9 Gilling M , et al. 2013 Edit
GEN434 KCNT1 potassium sodium-activated channel subfamily T member 1 9q34.3 Rare single gene variant
26 12 Heron SE , et al. 2012 Edit
GEN363 KCTD13 Potassium channel tetramerisation domain containing 13 16p11.2 Rare single gene variant
4 7 Golzio C , et al. 2012 Edit
GEN647 KDM5B Lysine (K)-specific demethylase 5B 1q32.1 Rare single gene variant
41 13 Iossifov I , et al. 2014 Edit
GEN435 KDM5C lysine demethylase 5C Xp11.22 Syndromic
32 23 Adegbola A , et al. 2008 Edit
GEN648 KDM6B Lysine (K)-specific demethylase 6B 17p13.1 Rare single gene variant
40 11 Iossifov I , et al. 2012 Edit
GEN294 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 6q11.1 Rare Single Gene variant
5 3 Salyakina D , et al. 2011 Edit
GEN834 KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 8q24.23 Functional
0 2 Traunmller L , et al. 2014 Edit
GEN142 KIAA1586 KIAA1586 6p12.1 Rare Single Gene variant
16 4 Bucan M , et al. 2009 Edit
GEN389 KIF5C Kinesin family member 5C 2q23.1-q23.2 Rare single gene variant
13 8 Awadalla P , et al. 2010 Edit
GEN388 KLC2 Kinesin light chain 2 11q13.2 Rare single gene variant
2 2 Awadalla P , et al. 2010 Edit
GEN700 KMT2A Lysine (K)-specific methyltransferase 2A 11q23.3 Syndromic
90 20 De Rubeis S , et al. 2014 Edit
GEN659 KMT2C Lysine (K)-specific methyltransferase 2C 7q36.1 Rare single gene variant
48 16 O'Roak BJ , et al. 2012 Edit
GEN636 KMT2E Lysine (K)-specific methyltransferase 2E 7q22.3 Rare single gene variant
41 8 Dong S , et al. 2014 Edit
GEN586 KPTN kaptin, actin binding protein 19q13.32 Syndromic
10 4 Baple EL , et al. 2013 Edit
GEN143 LAMB1 laminin, beta 1 7q31.1 Genetic Association
9 7 Hutcheson HB , et al. 2004 Edit
GEN496 LEP Leptin 7q32.1 Rare single gene variant
2 1 Prasad A , et al. 2013 Edit
GEN272 LMX1B LIM homeobox transcription factor 1 beta 9q33.3 Genetic association/Functional
2 1 Thanseem I , et al. 2011 Edit
GEN145 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 14q21.1 Genetic Association
7 6 Wang K , et al. 2009 Edit
GEN362 LRP2 LDL receptor related protein 2 2q31.1 Rare single gene variant
47 12 Ionita-Laza I , et al. 2012 Edit
GEN436 LRPPRC leucine rich pentatricopeptide repeat containing 2p21 Functional
2 3 Anitha A , et al. 2012 Edit
GEN146 LRRC1 leucine rich repeat containing 1 6p12.1 Genetic Association
5 6 Wang K , et al. 2009 Edit
GEN147 LZTS2 leucine zipper, putative tumor suppressor 2 10q24.31 Genetic Association
2 4 Wang K , et al. 2009 Edit
GEN148 MACROD2 MACRO domain containing 2 20p12.1 Genetic Association
15 19 Anney R , et al. 2010 Edit
GEN405 MAGED1 MAGE family member D1 Xp11.22 Functional
1 2 Dombret C , et al. 2012 Edit
GEN578 MAGEL2 MAGE-like 2 15q11.2 Syndromic
38 16 Schaaf CP , et al. 2013 Edit
GEN149 MAOA monoamine oxidase A Xp11.3 Genetic Association
13 15 Cohen IL , et al. 2003 Edit
GEN150 MAP2 microtubule-associated protein 2 2q34 Rare Single Gene variant
1 5 Mukaetova-Ladinska EB , et al. 2004 Edit
GEN418 MAPK1 Mitogen-activated protein kinase 1 22q11.22 Functional
1 2 Satoh Y , et al. 2011 Edit
GEN691 MAPK12 mitogen-activated protein kinase 12 22q13.33 Rare single gene variant
1 1 Li J , et al. 2015 Edit
GEN284 MAPK3 mitogen-activated protein kinase 3 16p11.2 Rare Single Gene variant
4 5 Schaaf CP , et al. 2011 Edit
GEN419 MAPK8IP2 Mitogen-activated protein kinase 8 interacting protein 2 22q13.33 Functional
0 1 Giza J , et al. 2010 Edit
GEN151 MARK1 microtubule affinity regulating kinase 1 1q41 Genetic association/Functional
12 10 Maussion G , et al. 2008 Edit
GEN152 MBD1 methyl-CpG binding domain protein 1 18q21.1 Rare Single Gene variant
12 7 Li H , et al. 2005 Edit
GEN153 MBD3 methyl-CpG binding domain protein 3 19p13.3 Rare Single Gene variant, Genetic Association
18 4 Cukier HN , et al. 2009 Edit
GEN154 MBD4 methyl-CpG binding domain protein 4 3q21.3 Rare Single Gene variant, Genetic Association
12 7 Cukier HN , et al. 2009 Edit
GEN345 MBD5 Methyl-CpG binding domain protein 5 2q23.1 Rare single gene variant
114 33 Wagenstaller J , et al. 2007 Edit
GEN551 MC4R Melanocortin 4 receptor 18q21.32 Functional
0 4 Xu P , et al. 2013 Edit
GEN155 MCPH1 microcephalin 1 8p23.1 Rare Single Gene variant
16 16 Ozgen HM , et al. 2009 Edit
GEN156 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 14q21.3 Genetic Association
20 8 Bucan M , et al. 2009 Edit
GEN157 MECP2 Methyl CpG binding protein 2 Xq28 Syndromic
177 81 Amir RE , et al. 1999 Edit
GEN649 MED13L Mediator complex subunit 13-like 12q24.21 Rare single gene variant
92 32 Iossifov I , et al. 2012 Edit
GEN159 MEF2C myocyte enhancer factor 2C 5q14.3 Rare Single Gene variant
Yes 60 34 Novara F , et al. 2010 Edit
GEN160 MET met proto-oncogene (hepatocyte growth factor receptor) 7q31.2 Genetic Association
24 37 Campbell DB , et al. 2006 Edit
GEN660 MIB1 Mindbomb E3 ubiquitin protein ligase 1 18q11.2 Rare single gene variant
26 7 De Rubeis S , et al. 2014 Edit
GEN379 MSN Moesin Xq12 Functional
0 1 Kerin T , et al. 2012 Edit
GEN335 MSR1 macrophage scavenger receptor 1 8p22 Rare Single Gene variant
5 3 O'Roak BJ , et al. 2012 Edit
GEN162 MTF1 metal-regulatory transcription factor 1 1p34.3 Genetic Association
2 4 Serajee FJ , et al. 2004 Edit
GEN785 MTOR Mechanistic target of rapamycin (serine/threonine kinase) 1p36.22 Rare single gene variant
30 18 Mroske C , et al. 2015 Edit
GEN438 MTX2 Metaxin 2 2q31.1 Functional
0 1 Anitha A , et al. 2012 Edit
GEN662 NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4q31.1 Rare single gene variant
56 13 De Rubeis S , et al. 2014 Edit
GEN166 NBEA neurobeachin 13q13.3 Rare single gene variant
32 19 Castermans D , et al. 2003 Edit
GEN650 NCKAP1 NCK-associated protein 1 2q32.1 Rare single gene variant
7 8 Iossifov I , et al. 2012 Edit
GEN350 NCKAP5L NCK-associated protein 5-like 12q13.12 Rare single gene variant
Yes 7 2 Chahrour MH , et al. 2012 Edit
GEN168 NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa 7q31.32 Genetic Association
2 3 Marui T , et al. 2010 Edit
GEN440 NELL1 neural EGFL like 1 11p15.1 Genetic association
3 2 Connolly JJ , et al. 2012 Edit
GEN782 NEO1 Neogenin 1 15q24.1 Multigenic CNV, rare single gene variant
Yes 6 1 Siu WK , et al. 2015 Edit
GEN169 NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) 17q11.2 Rare Single Gene variant, Genetic Association
15 24 Marui T , et al. 2004 Edit
GEN766 NINL Ninein-like 20p11.21 Rare single gene variant
5 6 Sanders SJ , et al. 2015 Edit
GEN278 NIPBL Nipped-B homolog (Drosophila) 5p13.2 Syndromic
18 13 Krantz ID , et al. 2004 Edit
GEN170 NLGN1 neuroligin 1 3q26.31 Genetic Association
13 17 Glessner JT , et al. 2009 Edit
GEN627 NLGN2 Neuroligin 2 17p13.1 Rare single gene variant
5 8 Whr M , et al. 2012 Edit
GEN171 NLGN3 neuroligin 3 Xq13.1 Rare Single Gene variant
33 34 Jamain S , et al. 2003 Edit
GEN172 NLGN4X neuroligin 4, X-linked Xp22.32-p22.31 Rare Single Gene variant
42 33 Jamain S , et al. 2003 Edit
GEN694 NOS1 nitric oxide synthase 1 12q24.22 Rare single gene variant
2 2 Li J , et al. 2015 Edit
GEN174 NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 1q23.3 Rare single Gene variant
2 6 Delorme R , et al. 2010 Edit
GEN175 NOS2 nitric oxide synthase 2 17q11.2 Genetic Association
5 7 Kim HW , et al. 2008 Edit
GEN176 NPAS2 neuronal PAS domain protein 2 2q11.2 Genetic Association
3 4 Nicholas B , et al. 2007 Edit
GEN177 NRCAM neuronal cell adhesion molecule 7q31.1 Genetic Association
8 5 Marui T , et al. 2008 Edit
GEN628 NRG1 Neuregulin 1 8p12 Functional
0 4 Ehrlichman RS , et al. 2009 Edit
GEN178 NRP2 neuropilin 2 2q33.3 Genetic Association
4 8 Wu S , et al. 2007 Edit
GEN179 NRXN1 neurexin 1 2p16.3 Rare Single Gene variant
Yes 289 82 Feng J , et al. 2006 Edit
GEN271 NRXN2 neurexin 2 11q13.1 Rare Single Gene variant
20 11 Gauthier J , et al. 2011 Edit
GEN305 NRXN3 neurexin 3 14q24.3-q31.1 Rare Single Gene variant
26 18 Vaags AK , et al. 2012 Edit
GEN279 NSD1 nuclear receptor binding SET domain protein 1 5q35.3 Syndromic
29 16 Kurotaki N , et al. 2002 Edit
GEN180 NTNG1 netrin G1 1p13.3 Syndromic
5 8 Borg I , et al. 2005 Edit
GEN181 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1q23.1 Rare Single Gene variant
13 8 Chakrabarti B , et al. 2009 Edit
GEN182 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 15q25.3 Rare Single Gene variant, Genetic Association
9 13 Chakrabarti B , et al. 2009 Edit
GEN183 ODF3L2 outer dense fiber of sperm tails 3-like 2 19p13.3 Rare Single Gene variant
11 1 Bucan M , et al. 2009 Edit
GEN547 OGT O-linked N-acetylglucosamine (GlcNAc) transferase Xq13.1 Functional
3 4 Howerton CL , et al. 2013 Edit
GEN184 OPHN1 oligophrenin 1 Xq12 Rare Single Gene variant
17 15 Piton A , et al. 2010 Edit
GEN186 OR1C1 olfactory receptor, family 1, subfamily C, member 1 1q44 Rare Single Gene variant
5 3 Bucan M , et al. 2009 Edit
GEN1005 OTUD7A OTU deubiquitinase 7A 15q13.3 Multigenic CNV
2 4 Uddin M , et al. 2018 Edit
GEN828 OXT oxytocin/neurophysin I prepropeptide 20p13 Genetic association
9 5 Ebstein RP , et al. 2009 Edit
GEN187 OXTR oxytocin receptor 3p25.3 Genetic Association
51 44 Wu S , et al. 2005 Edit
GEN630 PAFAH1B1 Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 17p13.3 Functional
0 2 Sudarov A , et al. 2013 Edit
GEN527 PAH Phenylalanine hydroxylase 12q23.2 Rare single gene variant
Yes 12 7 Yu TW , et al. 2013 Edit
GEN743 PAX6 Paired box 6 11p13 Multigenic CNV
4 7 Umeda T , et al. 2011 Edit
GEN189 PCDH10 protocadherin 10 4q28.3 Rare Single Gene variant
4 8 Morrow EM , et al. 2008 Edit
GEN190 PCDH19 protocadherin 19 Xq22.1 Syndromic
213 34 Piton A , et al. 2010 Edit
GEN191 PCDH9 protocadherin 9 13q21.32 Rare Single Gene variant
10 7 Marshall CR , et al. 2008 Edit
GEN342 PCDHGA11 protocadherin gamma subfamily A, 11 5q31.3 Rare Single Gene variant
2 2 Sato D , et al. 2012 Edit
GEN193 PER1 period homolog 1 (Drosophila) 17p13.1 Genetic Association
9 7 Nicholas B , et al. 2007 Edit
GEN651 PHF2 PHD finger protein 2 9q22.31 Rare single gene variant
7 5 Iossifov I , et al. 2012 Edit
GEN456 PHF8 PHD finger protein 8 Xp11.22 Syndromic
8 8 Nava C , et al. 2012 Edit
GEN194 PIK3CG phosphoinositide-3-kinase, catalytic, gamma polypeptide 7q22.3 Genetic Association
1 4 Serajee FJ , et al. 2003 Edit
GEN196 PITX1 paired-like homeodomain 1 5q31.1 Genetic Association
9 6 Philippi A , et al. 2007 Edit
GEN371 PLAUR Plasminogen activator, urokinase receptor 19q13.31 Genetic association
2 2 Campbell DB , et al. 2009 Edit
GEN198 PLN phospholamban 6q22.31 Rare Single Gene variant
1 4 Marshall CR , et al. 2008 Edit
GEN497 PLXNA4 Plexin A4 7q32.3 Functional
3 4 Prasad A , et al. 2013 Edit
GEN368 POGZ Pogo transposable element with ZNF domain 1q21.3 Rare single gene variant
83 30 Neale BM , et al. 2012 Edit
GEN528 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1p34.1 Syndromic
Yes 7 5 Yu TW , et al. 2013 Edit
GEN199 PON1 paraoxonase 1 7q21.3 Genetic Association
2 5 D'Amelio M , et al. 2005 Edit
GEN806 POU3F2 POU class 3 homeobox 2 6q16.1 Functional
7 3 Belinson H , et al. 2016 Edit
GEN512 PPFIA1 PTPRF interacting protein alpha 1 11q13.3 Rare single gene variant
2 3 Schluth-Bolard C , et al. 2013 Edit
GEN359 PPP1R1B Protein phosphatase 1, regulatory (inhibitor) subunit 1B 17q12 Genetic association
3 1 Hettinger JA , et al. 2012 Edit
GEN791 PREX1 Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 20q13.13 Genetic association/Rare single gene variant/Functional
8 2 Li J , et al. 2015 Edit
GEN588 PRICKLE1 Prickle homolog 1 (Drosophila) 12q12 Syndromic
8 4 Paemka L , et al. 2013 Edit
GEN545 PRICKLE2 prickle planar cell polarity protein 2 3p14.1 Rare single gene variant/multigenic CNV
8 4 Sowers LP , et al. 2013 Edit
GEN201 PRKCB protein kinase C beta 16p12.2-p12.1 Genetic Association
5 6 Philippi A , et al. 2005 Edit
GEN329 PSD3 pleckstrin and Sec7 domain containing 3 8p22 Rare Single Gene variant
8 5 Pinto D , et al. 2010 Edit
GEN203 PTCHD1 patched domain containing 1 Xp22.11 Rare Single Gene variant
54 11 Marshall CR , et al. 2008 Edit
GEN204 PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1) 10q23.31 Syndromic
105 61 Goffin A , et al. 2001 Edit
GEN205 PTGS2 prostaglandin-endoperoxide synthase 2 1q31.1 Genetic Association
2 7 Yoo HJ , et al. 2008 Edit
GEN769 PTK7 Protein tyrosine kinase 7 (inactive) 6p21.1 Rare single gene variant
5 4 Sanders SJ , et al. 2015 Edit
GEN277 PTPN11 protein tyrosine phosphatase, non-receptor type 11 12q24.13 Syndromic
30 16 Tartaglia M , et al. 2001 Edit
GEN534 PXDN peroxidasin 2p25.3 Multigenic CNV
7 5 Meyer KJ , et al. 2011 Edit
GEN207 RAB39B RAB39B, member RAS oncogene family Xq28 Rare Single Gene variant
12 12 Giannandrea M , et al. 2010 Edit
GEN208 RAI1 retinoic acid induced 1 17p11.2 Syndromic
14 21 Nakamine A , et al. 2007 Edit
GEN209 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 2q31.1 Rare Single Gene variant, Genetic Association
9 17 Bacchelli E , et al. 2003 Edit
GEN394 RASSF5 Ras association domain family member 5 1q32.1 Genetic association
3 3 Anney R , et al. 2012 Edit
GEN210 RB1CC1 RB1-inducible coiled-coil 1 8q11.23 Rare Single Gene variant
7 5 Marshall CR , et al. 2008 Edit
GEN001 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 16p13.3 Genetic Association
71 34 Sebat J , et al. 2007 Edit
GEN212 REEP3 receptor accessory protein 3 10q21.3 Rare single gene variant
1 3 Castermans D , et al. 2007 Edit
GEN213 RELN Reelin 7q22.1 Genetic Association
120 52 Persico AM , et al. 2001 Edit
GEN215 RGS7 regulator of G-protein signaling 7 1q43 Rare Single Gene variant
Yes 6 6 Pinto D , et al. 2010 Edit
GEN216 RHOXF1 Rhox homeobox family, member 1 Xq24 Genetic Association
2 3 Wang K , et al. 2009 Edit
GEN637 RIMS1 Regulating synaptic membrane exocytosis 1 6q13 Rare single gene variant
13 7 Dong S , et al. 2014 Edit
GEN217 RIMS3 regulating synaptic membrane exocytosis 3 1p34.2 Rare single gene variant
7 4 Kumar RA , et al. 2009 Edit
GEN218 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 3p12.3 Functional
10 12 Hu VW , et al. 2006 Edit
GEN493 ROBO2 roundabout guidance receptor 2 3p12.3 Functional
8 8 Prasad A , et al. 2013 Edit
GEN220 RPL10 ribosomal protein L10 Xq28 Rare single gene variant
7 13 Klauck SM , et al. 2006 Edit
GEN221 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 6q27 Rare Single Gene variant
2 4 Marshall CR , et al. 2008 Edit
GEN346 SATB2 SATB homeobox 2 2q33.1 Syndromic
164 28 Talkowski ME , et al. 2012 Edit
GEN473 SBF1 SET binding factor 1 22q13.33 Rare Single Gene variant
10 9 O'Roak BJ , et al. 2012 Edit
GEN223 SCN1A sodium channel, voltage-gated, type I, alpha subunit 2q24.3 Rare Single Gene variant
174 59 Weiss LA , et al. 2003 Edit
GEN224 SCN2A sodium channel, voltage-gated, type II, alpha subunit 2q24.3 Rare Single Gene variant
222 62 Weiss LA , et al. 2003 Edit
GEN695 SCN5A sodium voltage-gated channel alpha subunit 5 3p22.2 Rare single gene variant
4 3 Li J , et al. 2015 Edit
GEN327 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12q13.13 Rare single gene variant
146 34 Veeramah KR , et al. 2012 Edit
GEN225 SDC2 syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan ) 8q22.1 Genetic association
2 4 Ishikawa-Brush Y , et al. 1997 Edit
GEN226 SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 5p15.31 Functional
12 17 Melin M , et al. 2006 Edit
GEN372 SERPINE1 serpin family E member 1 7q22.1 Genetic association
1 2 Campbell DB , et al. 2009 Edit
GEN640 SETBP1 SET binding protein 1 18q12.3 Rare single gene variant
33 13 O'Roak BJ , et al. 2012 Edit
GEN474 SETD2 SET domain containing 2 3p21.31 Rare Single Gene variant
18 12 O'Roak BJ , et al. 2012 Edit
GEN607 SETD5 SET domain containing 5 3p25.3 Rare Single Gene variant
72 24 Grozeva D , et al. 2014 Edit
GEN227 SEZ6L2 SEZ6L2 seizure related 6 homolog (mouse)-like 2 16p11.2 Rare Single Gene variant
6 6 Kumar RA , et al. 2009 Edit
GEN228 SH3KBP1 SH3-domain kinase binding protein 1 Xp22.12 Rare Single Gene variant
1 4 Piton A , et al. 2010 Edit
GEN340 SHANK1 SH3 and multiple ankyrin repeat domains 1 19q13.33 Rare Single Gene variant
36 8 Sato D , et al. 2012 Edit
GEN229 SHANK2 SH3 and multiple ankyrin repeat domains 2 11q13.3-q13.4 Rare Single Gene variant
83 34 Berkel S , et al. 2010 Edit
GEN230 SHANK3 SH3 and multiple ankyrin repeat domains 3 22q13.33 Rare Single Gene variant
284 81 Durand CM , et al. 2006 Edit
GEN837 SIN3A SIN3 transcription regulator family member A 15q24.2 Rare single gene variant
16 8 Witteveen JS , et al. 2016 Edit
GEN783 SLC12A5 Solute carrier family 12 (potassium/chloride transporter), member 5 20q13.12 Rare single gene variant
13 5 Merner ND , et al. 2015 Edit
GEN331 SLC16A3 solute carrier family 16, member 3 (monocarboxylic acid transporter 4) 17q25.3 Rare Single Gene variant
4 2 Pinto D , et al. 2010 Edit
GEN231 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 9p24.2 Genetic association
Yes 14 12 Brune CW , et al. 2009 Edit
GEN232 SLC25A12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 2q31.1 Genetic Association
16 21 Ramoz N , et al. 2004 Edit
GEN270 SLC38A10 solute carrier family 38, member 10 17q25.3 Rare Single Gene variant
3 2 Celestino-Soper PB , et al. 2011 Edit
GEN234 SLC4A10 solute carrier family 4, sodium bicarbonate transporter-like, member 10 2q24.2 Genetic Association
3 6 Sebat J , et al. 2007 Edit
GEN568 SLC6A3 Solute carrier family 6 (neurotransmitter transporter), member 3 5p15.33 Rare single gene variant
13 15 Hamilton PJ , et al. 2013 Edit
GEN235 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 17q11.2 Genetic Association
49 26 Cook EH Jr , et al. 1997 Edit
GEN236 SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 Xq28 Rare Single Gene variant
15 13 Po-Argelles P , et al. 2006 Edit
GEN237 SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 Xq26.3 Syndromic
26 15 Garbern JY , et al. 2010 Edit
GEN238 SLC9A9 solute carrier family 9 (sodium/hydrogen exchanger), member 9 3q24 Rare Single Gene variant
18 12 Morrow EM , et al. 2008 Edit
GEN597 SLIT3 slit guidance ligand 3 5q34-q35.1 Multigenic CNV
4 3 Cukier HN , et al. 2014 Edit
GEN558 SLITRK5 SLIT and NTRK like family member 5 13q31.2 Functional
11 9 Shmelkov SV , et al. 2010 Edit
GEN731 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 9p24.3 Genetic association/functional
22 16 Wolff D , et al. 2012 Edit
GEN520 SMG6 SMG6, nonsense mediated mRNA decay factor 17p13.3 Multigenic CNV
3 2 Nguyen LS , et al. 2013 Edit
GEN701 SNAP25 Synaptosomal-associated protein, 25kDa 20p12.2 Genetic association
5 6 Braida D , et al. 2015 Edit
GEN239 SND1 staphylococcal nuclease and tudor domain containing 1 7q32.1 Genetic Association
2 8 Holt R , et al. 2010 Edit
GEN343 SNRPN small nuclear ribonucleoprotein polypeptide N 15q11.2 Rare Single Gene variant
6 5 Talkowski ME , et al. 2012 Edit
GEN360 SNTG2 syntrophin gamma 2 2p25.3 Rare single gene variant
5 6 Rosenfeld JA , et al. 2010 Edit
GEN717 SNX14 Sorting nexin 14 6q14.3 Syndromic
22 6 Akizu N , et al. 2015 Edit
GEN604 SOD1 superoxide dismutase 1 21q22.11 Functional
2 2 Kova J , et al. 2013 Edit
GEN366 SOX5 SRY-box 5 12p12.1 Rare single gene variant
60 14 Rosenfeld JA , et al. 2010 Edit
GEN793 SPARCL1 SPARC like 1 4q22.1 Functional
14 3 De Rubeis S , et al. 2014 Edit
GEN671 SRRM4 Serine/arginine repetitive matrix 4 12q24.23 Functional
1 5 Irimia M , et al. 2014 Edit
GEN240 ST7 suppression of tumorigenicity 7 7q31.2 Rare Single Gene variant
5 4 Vincent JB , et al. 2000 Edit
GEN241 STK39 serine threonine kinase 39 (STE20/SPS1 homolog, yeast) 2q24.3 Genetic Association
3 5 Ramoz N , et al. 2008 Edit
GEN600 STX1A Syntaxin 1A (brain) 7q11.23 Genetic association
9 6 Nakamura K , et al. 2008 Edit
GEN242 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 3p14.1 Rare Single Gene variant
5 5 Bucan M , et al. 2009 Edit
GEN243 SYN1 Synapsin 1 Xp11.3-p11.23 Rare Single Gene variant
12 19 Fassio A , et al. 2011 Edit
GEN564 SYN3 Synapsin III 22q12.3 Functional
2 3 Greco B , et al. 2013 Edit
GEN244 SYNE1 spectrin repeat containing, nuclear envelope 1 6q25.2 Rare Single Gene variant
22 16 O'Roak BJ , et al. 2011 Edit
GEN245 SYNGAP1 synaptic Ras GTPase activating protein 1 6p21.32 Rare Single Gene variant
162 54 Hamdan FF , et al. 2011 Edit
GEN246 SYT17 synaptotagmin XVII 16p12.3 Genetic Association
2 2 Wang K , et al. 2009 Edit
GEN341 SYT3 synaptotagmin 3 19q13.33 Rare Single Gene variant
1 1 Sato D , et al. 2012 Edit
GEN792 TAF1 TATA-box binding protein associated factor 1 Xq13.1 Rare single gene variant
41 5 O'Rawe JA , et al. 2015 Edit
GEN248 TBC1D5 TBC1 domain family, member 5 3p24.3 Rare Single Gene variant
5 8 Pinto D , et al. 2010 Edit
GEN301 TBL1X transducin (beta)-like 1X-linked Xp22.31-p22.2 Genetic Association
3 1 Chung RH , et al. 2011 Edit
GEN476 TBL1XR1 transducin beta like 1 X-linked receptor 1 3q26.32 Rare Single Gene variant
26 20 O'Roak BJ , et al. 2012 Edit
GEN477 TBR1 T-box, brain, 1 2q24.2 Rare Single Gene variant
31 26 O'Roak BJ , et al. 2012 Edit
GEN592 TCF4 Transcription factor 4 18q21.2 Syndromic
45 44 Van Balkom ID , et al. 2012 Edit
GEN652 TCF7L2 Transcription factor 7-like 2 (T-cell specific, HMG-box) 10q25.2-q25.3 Rare single gene variant
4 3 Iossifov I , et al. 2014 Edit
GEN249 TDO2 tryptophan 2,3-dioxygenase 4q32.1 Genetic Association
5 4 Nabi R , et al. 2004 Edit
GEN757 TERF2 Telomeric repeat binding factor 2 16q22.1 Rare single gene variant
2 3 Iossifov I , et al. 2014 Edit
GEN251 TH tyrosine hydroxylase 11p15.5 Genetic Association
4 18 Comings DE , et al. 1995 Edit
GEN421 THRA thyroid hormone receptor alpha 17q21.1 Functional
3 5 Pilhatsch M , et al. 2010 Edit
GEN252 TLK2 tousled-like kinase 2 17q23.2 Rare Single Gene variant
46 14 O'Roak BJ , et al. 2011 Edit
GEN269 TMLHE trimethyllysine hydroxylase, epsilon Xq28 Rare Single Gene variant
10 5 Celestino-Soper PB , et al. 2011 Edit
GEN653 TNRC6B Trinucleotide repeat containing 6B 22q13.1 Rare single gene variant
8 7 Dong S , et al. 2014 Edit
GEN468 TOMM20 Translocase of outer mitochondrial membrane 20 homolog (yeast) 1q42.3 Functional
0 1 Anitha A , et al. 2012 Edit
GEN569 TOP1 Topoisomerase (DNA) I 20q12 Rare Single Gene variant
3 7 King IF , et al. 2013 Edit
GEN561 TOP3B Topoisomerase (DNA) III beta 22q11.22 Rare single gene variant
5 6 Xu D , et al. 2013 Edit
GEN584 TRIM33 Tripartite motif containing 33 1p13.2 Genetic association/Functional
4 1 Xia K , et al. 2013 Edit
GEN664 TRIO Trio Rho guanine nucleotide exchange factor 5p15.2 Rare Single Gene variant
67 24 De Rubeis S , et al. 2014 Edit
GEN354 TRIP12 Thyroid hormone receptor interactor 12 2q36.3 Rare single gene variant
Yes 41 16 Chahrour MH , et al. 2012 Edit
GEN666 TRPC6 Transient receptor potential cation channel, subfamily C, member 6 11q22.1 Rare single gene variant/functional
12 3 Griesi-Oliveira K , et al. 2014 Edit
GEN255 TSC1 tuberous sclerosis 1 9q34.13 Rare Single Gene variant
36 20 Smalley SL 1998 Edit
GEN256 TSC2 tuberous sclerosis 2 16p13.3 Genetic Association
78 30 Smalley SL 1998 Edit
GEN258 TSN translin 2q14.3 Functional
0 3 Stein JM , et al. 2006 Edit
GEN259 TSPAN7 tetraspanin 7 Xp11.4 Rare Single Gene variant
8 7 Piton A , et al. 2010 Edit
GEN565 TTI2 TELO2 interacting protein 2 8p12 Rare single gene variant
2 2 Langout M , et al. 2013 Edit
GEN261 UBE2H ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) 7q32.2 Genetic Association
2 2 Vourc'h P , et al. 2003 Edit
GEN262 UBE3A ubiquitin protein ligase E3A 15q11.2 Genetic Association
21 27 Nurmi EL , et al. 2001 Edit
GEN351 UBE3B ubiquitin protein ligase E3B 12q24.11 Rare single gene variant
Yes 17 7 Chahrour MH , et al. 2012 Edit
GEN478 UBE3C Ubiquitin protein ligase E3C 7q36.3 Rare Single Gene variant
4 4 O'Roak BJ , et al. 2012 Edit
GEN469 UBR5 ubiquitin protein ligase E3 component n-recognin 5 8q22.3 Rare single gene variant
6 7 Kato T , et al. 2012 Edit
GEN364 UPF3B UPF3B, regulator of nonsense mediated mRNA decay Xq24 Syndromic
25 13 Tarpey PS , et al. 2007 Edit
GEN758 USP7 Ubiquitin specific peptidase 7 (herpes virus-associated) 16p13.2 Rare single gene variant
29 7 Hao YH , et al. 2015 Edit
GEN263 VASH1 vasohibin 1 14q24.3 Genetic Association
2 4 Wang K , et al. 2009 Edit
GEN554 VIP vasoactive intestinal peptide 6q25.2 Functional
2 6 Hill JM , et al. 2007 Edit
GEN281 VPS13B vacuolar protein sorting 13 homolog B (yeast) 8q22.2 Syndromic
Yes 67 20 Kolehmainen J , et al. 2003 Edit
GEN654 WAC WW domain containing adaptor with coiled-coil 10p12.1 Syndromic
30 17 Iossifov I , et al. 2014 Edit
GEN635 WDFY3 WD repeat and FYVE domain containing 3 4q21.23 Rare Single Gene variant
56 17 Iossifov I , et al. 2012 Edit
GEN264 WNK3 WNK lysine deficient protein kinase 3 Xp11.22 Rare Single Gene variant
1 6 Piton A , et al. 2010 Edit
GEN267 XPC xeroderma pigmentosum, complementation group C 3p25.1 Rare Single Gene variant
4 11 Khan SG , et al. 1998 Edit
GEN377 XPO1 Exportin 1 (CRM1 homolog, yeast) 2p15 Genetic association
7 6 Liu X , et al. 2011 Edit
GEN339 YTHDC2 YTH domain containing 2 5q22.2 Rare Single Gene variant
5 5 O'Roak BJ , et al. 2012 Edit
GEN501 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 17p13.3 Multigenic CNV
3 5 Prasad A , et al. 2013 Edit
GEN619 ZBTB20 Zinc finger and BTB domain containing 20 3q13.31 Multigenic CNV
37 22 Cordeddu V , et al. 2014 Edit
GEN641 ZMYND11 Zinc finger, MYND-type containing 11 10p15.3 Rare single gene variant
13 10 Iossifov I , et al. 2012 Edit
GEN352 ZNF18 zinc finger protein 18 17p12 Rare single gene variant
Yes 4 1 Chahrour MH , et al. 2012 Edit
GEN398 ZNF827 Zinc finger protein 827 4q31.21-q31.22 Genetic association
1 1 Anney R , et al. 2012 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
10
Deletion-Duplication
 15
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 1
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 3
 
 
10
Deletion-Duplication
 1
 
 
10
Deletion-Duplication
 21
 
 
10
Duplication
 2
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 3
 
 
10
Deletion
 3
 
 
10
Duplication
 5
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 3
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 5
 
 
10
Deletion
 2
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 37
 
 
10
Duplication
 1
 
 
10
Deletion
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 11
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 13
 
 
10
Deletion-Duplication
 4
 
 
10
Deletion-Duplication
 24
 
 
10
Deletion
 2
 
 
10
Deletion
 1
 
 
10
Deletion
 8
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 6
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 13
 
 
11
Deletion-Duplication
 15
 
 
11
Duplication
 1
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 27
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 2
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion
 1
 
 
11
Deletion
 3
 
 
11
Deletion
 4
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 18
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 21
 
 
11
Duplication
 1
 
 
11
Duplication
 1
 
 
11
Deletion
 11
 
 
11
Deletion-Duplication
 1
 
 
11
Deletion
 2
 
 
11
Duplication
 1
 
 
11
Deletion
 7
 
 
11
Duplication
 3
 
 
11
Deletion-Duplication
 16
 
 
11
Deletion
 1
 
 
11
Duplication
 7
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 10
 
 
11
Deletion
 3
 
 
11
Deletion-Duplication
 9
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 17
 
 
11
Duplication
 1
 
 
11
Deletion
 3
 
 
11
Duplication
 2
 
 
11
Deletion-Duplication
 17
 
 
11
Deletion
 5
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 4
 
 
11
Deletion-Duplication
 13
 
 
11
Deletion
 2
 
 
11
Deletion
 6
 
 
11
Deletion-Duplication
 11
 
 
11
Deletion
 8
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion-Duplication
 13
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion
 10
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 3
 
 
12
Deletion-Duplication
 27
 
 
12
Deletion-Duplication
 32
 
 
12
Duplication
 3
 
 
12
Deletion
 1
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Duplication
 2
 
 
12
Deletion
 5
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 20
 
 
12
Deletion
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 8
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Deletion
 6
 
 
12
Deletion-Duplication
 7
 
 
12
Duplication
 2
 
 
12
Duplication
 1
 
 
12
Duplication
 3
 
 
12
Duplication
 5
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 25
 
 
12
Deletion-Duplication
 2
 
 
12
Duplication
 4
 
 
12
Deletion-Duplication
 29
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
N/A
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 2
 
 
13
Deletion
 2
 
 
13
Deletion
 2
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 6
 
 
13
Deletion-Duplication
 6
 
 
13
Duplication
 2
 
 
13
Duplication
 1
 
 
13
Deletion
 11
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 13
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
N/A
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 13
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 1
 
 
13
Deletion-Duplication
 6
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 48
 
 
14
Duplication
 4
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 20
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 12
 
 
14
Deletion-Duplication
 12
 
 
14
Deletion-Duplication
 5
 
 
14
Deletion-Duplication
 13
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 16
 
 
14
Deletion
 4
 
 
14
Deletion-Duplication
 18
 
 
14
Duplication
 2
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 19
 
 
14
Deletion
 7
 
 
14
Duplication
 1
 
 
14
Deletion
 15
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Duplication
 2
 
 
14
Duplication
 1
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 19
 
 
14
Deletion
 2
 
 
14
Deletion
 1
 
 
14
Deletion
 3
 
 
14
Deletion-Duplication
 11
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 4
 
 
14
Deletion
 2
 
 
15
Duplication
 10
  construct
 
15
Duplication
 1
 
 
15
Duplication
 2
 
 
15
Duplication
 7
 
 
15
Duplication
 2
 
 
15
Duplication
 1
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 93
 
 
15
Duplication
 7
 
 
15
Duplication
 58
  construct
 
15
Duplication
 4
 
 
15
Duplication
 13
 
 
15
Duplication
 3
 
 
15
Deletion-Duplication
 9
 
 
15
Duplication
 4
 
 
15
Duplication
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 12
 
 
15
Deletion-Duplication
 13
 
 
15
Deletion
 16
 
 
15
Deletion-Duplication
 40
 
 
15
Deletion-Duplication
 68
  construct
 
15
Deletion-Duplication
 2
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 9
 
 
15
Deletion-Duplication
 10
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 8
 
 
15
Deletion
 2
 
 
15
Deletion-Duplication
 9
 
 
15
Deletion
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 13
 
 
15
Deletion
 9
 
 
15
Deletion
 3
 
 
15
Deletion
 1
 
 
15
Duplication
 2
 
 
15
Deletion-Duplication
 12
 
 
15
Deletion
 7
 
 
15
Duplication
 1
 
 
15
Deletion
 9
 
 
15
Duplication
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 7
 
 
15
Deletion
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 16
 
 
15
Deletion-Duplication
 26
 
 
15
Duplication
 1
 
 
16
Deletion-Duplication
 111
  construct
 
16
Deletion-Duplication
 20
 
 
16
Duplication
 3
 
 
16
Deletion
 1
 
 
16
Deletion
 1
 
 
16
Duplication
 10
 
 
16
Deletion-Duplication
 17
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 36
 
 
16
Deletion
 3
 
 
16
Deletion-Duplication
 50
 
 
16
Duplication
 2
 
 
16
Deletion-Duplication
 2
 
 
16
Deletion
 5
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 15
 
 
16
Deletion
 3
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 21
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 38
 
 
16
Deletion
 1
 
 
16
Duplication
 2
 
 
16
Deletion-Duplication
 14
 
 
16
Deletion
 1
 
 
16
Deletion
 6
 
 
16
Duplication
 1
 
 
16
Deletion
 4
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 3
 
 
16
Deletion
 9
 
 
16
Deletion-Duplication
 25
 
 
17
Deletion-Duplication
 45
  construct
 
17
Deletion-Duplication
 36
 
 
17
Duplication
 6
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 27
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 20
 
 
17
Duplication
 8
 
 
17
Deletion-Duplication
 45
 
 
17
Duplication
 1
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 4
 
 
17
Duplication
 9
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 6
 
 
17
Duplication
 2
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 22
 
 
17
Deletion-Duplication
 61
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 18
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 5
 
 
17
Deletion-Duplication
 25
 
 
18
Duplication
 2
 
 
18
Duplication
 1
 
 
18
Duplication
 1
 
 
18
Duplication
 1
 
 
18
Deletion-Duplication
 11
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 16
 
 
18
Deletion-Duplication
 1
 
 
18
Duplication
 1
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 14
 
 
18
N/A
 3
 
 
18
Deletion-Duplication
 14
 
 
18
Duplication
 2
 
 
18
Deletion-Duplication
 14
 
 
18
Deletion
 1
 
 
18
Duplication
 1
 
 
18
Deletion
 1
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 5
 
 
19
Deletion-Duplication
 16
 
 
19
Duplication
 1
 
 
19
Deletion
 2
 
 
19
Deletion
 1
 
 
19
Duplication
 2
 
 
19
Deletion-Duplication
 5
 
 
19
Deletion-Duplication
 30
 
 
19
Duplication
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 9
 
 
19
Deletion
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 17
 
 
19
Deletion
 5
 
 
19
Deletion
 2
 
 
19
Deletion-Duplication
 19
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 2
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 18
 
 
19
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 21
 
 
1
Duplication
 1
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 23
 
 
1
Deletion
 2
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 14
 
 
1
Deletion
 3
 
 
1
Deletion
 1
 
 
1
Deletion
 6
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 4
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 16
 
 
1
Deletion-Duplication
 14
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 3
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 9
 
 
1
Deletion-Duplication
 14
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Duplication
 5
 
 
1
Deletion
 7
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 14
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 15
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 3
 
 
1
Deletion-Duplication
 24
 
 
1
Duplication
 1
 
 
1
Deletion
 3
 
 
1
Deletion
 3
 
 
1
Deletion
 3
 
 
1
Deletion
 13
 
 
1
Duplication
 26
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 15
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 23
 
 
1
Deletion
 3
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 9
 
 
1
Deletion-Duplication
 11
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 11
 
 
1
Deletion
 2
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 18
 
 
1
Deletion
 3
 
 
1
Deletion-Duplication
 17
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 18
 
 
1
Duplication
 2
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 15
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 7
 
 
1
Deletion
 2
 
 
1
Deletion-Duplication
 20
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 11
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 25
 
 
1
Duplication
 7
 
 
1
Deletion-Duplication
 49
 
 
20
Deletion-Duplication
 13
 
 
20
Duplication
 4
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 35
 
 
20
Deletion
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 4
 
 
20
Deletion-Duplication
 31
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 17
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 2
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 11
 
 
20
Deletion-Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 30
 
 
21
Duplication
 3
 
 
21
Deletion
 2
 
 
21
Deletion
 1
 
 
21
Duplication
 6
 
 
21
Deletion
 1
 
 
21
Duplication
 2
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 16
 
 
21
Deletion-Duplication
 11
 
 
21
Deletion-Duplication
 1
 
 
21
Deletion
 1
 
 
21
Duplication
 2
 
 
21
Deletion
 1
 
 
21
Deletion-Duplication
 5
 
 
21
Deletion
 2
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 7
 
 
21
Deletion
 4
 
 
21
Deletion-Duplication
 35
 
 
22
Duplication
 5
 
 
22
Duplication
 1
 
 
22
Duplication
 7
  construct
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 83
  construct
 
22
Deletion-Duplication
 11
 
 
22
Deletion
 5
 
 
22
Duplication
 2
 
 
22
Deletion-Duplication
 24
 
 
22
Duplication
 10
 
 
22
Deletion-Duplication
 32
 
 
22
Duplication
 1
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 22
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 25
 
 
22
Duplication
 1
 
 
22
Duplication
 2
 
 
22
Deletion-Duplication
 15
 
 
22
Deletion-Duplication
 9
 
 
22
Deletion
 2
 
 
22
Deletion-Duplication
 16
 
 
22
Deletion-Duplication
 22
 
 
22
Duplication
 24
 
 
22
Deletion-Duplication
 58
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 16
 
 
2
Deletion-Duplication
 20
 
 
2
Deletion
 1
 
 
2
Deletion
 5
 
 
2
Deletion-Duplication
 65
 
 
2
Deletion-Duplication
 3
 
 
2
Deletion-Duplication
 27
 
 
2
Deletion
 5
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 33
 
 
2
Duplication
 1
 
 
2
N/A
 2
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 35
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 3
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 4
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 13
 
 
2
Deletion-Duplication
 16
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Deletion
 7
 
 
2
Duplication
 2
 
 
2
Deletion
 4
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 18
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion
 10
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 13
 
 
2
Deletion-Duplication
 7
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion
 16
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 15
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 23
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 19
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion
 2
 
 
2
Deletion-Duplication
 23
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 1
 
 
2
Deletion
 2
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion
 5
 
 
2
Deletion-Duplication
 19
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion
 4
 
 
2
Deletion-Duplication
 9
 
 
2
Deletion
 5
 
 
2
Deletion-Duplication
 45
 
 
3
Deletion-Duplication
 21
 
 
3
Deletion
 2
 
 
3
Deletion
 2
 
 
3
Duplication
 2
 
 
3
Deletion
 10
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 21
 
 
3
Deletion
 2
 
 
3
Deletion
 10
 
 
3
Deletion-Duplication
 25
 
 
3
Deletion
 1
 
 
3
Deletion
 7
 
 
3
Deletion-Duplication
 15
 
 
3
Deletion
 1
 
 
3
Duplication
 4
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 14
 
 
3
Duplication
 1
 
 
3
Deletion
 13
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 16
 
 
3
Deletion-Duplication
 1
 
 
3
Deletion
 2
 
 
3
Deletion-Duplication
 19
 
 
3
Duplication
 1
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Duplication
 3
 
 
3
Deletion-Duplication
 17
 
 
3
N/A
 2
 
 
3
Deletion-Duplication
 53
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 2
 
 
3
Deletion
 2
 
 
3
Deletion
 4
 
 
3
Duplication
 11
 
 
3
Duplication
 1
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 2
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Deletion
 6
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 17
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion
 1
 
 
3
Duplication
 1
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 13
 
 
3
Duplication
 1
 
 
3
Duplication
 2
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 2
 
 
3
Deletion-Duplication
 20
 
 
3
Deletion
 2
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 14
 
 
3
Duplication
 1
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 7
 
 
3
Deletion
 4
 
 
3
Duplication
 4
 
 
3
Deletion-Duplication
 55
 
 
4
Duplication
 3
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 5
 
 
4
Deletion-Duplication
 22
 
 
4
Duplication
 4
 
 
4
Deletion-Duplication
 12
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 13
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion-Duplication
 17
 
 
4
Duplication
 6
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 19
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 7
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 5
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 17
 
 
4
Deletion
 1
 
 
4
Duplication
 3
 
 
4
Deletion-Duplication
 1
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 5
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 1
 
 
4
Deletion-Duplication
 10
 
 
4
Deletion-Duplication
 44
 
 
5
Deletion-Duplication
 9
 
 
5
Deletion-Duplication
 5
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 16
 
 
5
Duplication
 1
 
 
5
Duplication
 2
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 9
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Deletion
 2
 
 
5
Deletion
 1
 
 
5
Deletion
 5
 
 
5
Deletion-Duplication
 31
 
 
5
Deletion
 1
 
 
5
Duplication
 4
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion
 4
 
 
5
Duplication
 2
 
 
5
Deletion-Duplication
 33
 
 
5
Duplication
 1
 
 
5
Duplication
 2
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 2
 
 
5
Deletion
 2
 
 
5
Deletion
 7
 
 
5
Deletion
 4
 
 
5
Deletion
 3
 
 
5
Duplication
 1
 
 
5
Duplication
 4
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 17
 
 
5
Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 18
 
 
5
Deletion-Duplication
 2
 
 
5
Deletion
 1
 
 
5
Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 12
 
 
5
Deletion
 2
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 8
 
 
5
Deletion
 2
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 9
 
 
5
Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 7
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 15
 
 
5
Duplication
 7
 
 
5
Deletion-Duplication
 37
 
 
6
Duplication
 2
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 16
 
 
6
Deletion-Duplication
 12
 
 
6
Deletion-Duplication
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 23
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion-Duplication
 19
 
 
6
Duplication
 2
 
 
6
Deletion-Duplication
 11
 
 
6
Deletion-Duplication
 21
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 6
 
 
6
Duplication
 2
 
 
6
Deletion
 2
 
 
6
Duplication
 4
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 9
 
 
6
Deletion
 5
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Deletion
 3
 
 
6
Deletion
 1
 
 
6
Duplication
 3
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 9
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Deletion
 3
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion
 2
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 6
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
N/A
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 23
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 8
 
 
6
Duplication
 1
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Deletion
 10
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 6
 
 
6
Deletion
 4
 
 
6
Deletion
 3
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion-Duplication
 1
 
 
6
Deletion-Duplication
 37
 
 
6
Deletion
 7
 
 
6
Deletion-Duplication
 29
 
 
7
Deletion
 2
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 26
 
 
7
Deletion-Duplication
 10
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 28
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Duplication
 4
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 2
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 36
 
 
7
Duplication
 8
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 60
  construct
 
7
Deletion
 2
 
 
7
Duplication
 2
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 16
 
 
7
Duplication
 2
 
 
7
Deletion-Duplication
 21
 
 
7
Deletion-Duplication
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 11
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 34
 
 
7
Deletion
 2
 
 
7
Deletion
 3
 
 
7
Deletion
 2
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 9
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 12
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 9
 
 
7
Duplication
 4
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 9
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Deletion
 7
 
 
7
Duplication
 2
 
 
7
Deletion
 1
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Deletion
 1
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 20
 
 
7
Deletion
 1
 
 
7
Deletion
 3
 
 
7
Deletion-Duplication
 39
 
 
7
Deletion-Duplication
 4
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 26
 
 
7
Duplication
 8
 
 
7
Deletion
 4
 
 
7
Deletion-Duplication
 24
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 23
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 13
 
 
8
Deletion-Duplication
 2
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 37
 
 
8
Deletion-Duplication
 8
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 42
 
 
8
Duplication
 3
 
 
8
Duplication
 2
 
 
8
Duplication
 3
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 2
 
 
8
Duplication
 5
 
 
8
Deletion-Duplication
 8
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 3
 
 
8
Deletion
 16
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 22
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 2
 
 
8
Duplication
 1
 
 
8
Deletion
 3
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 9
 
 
8
Deletion
 2
 
 
8
Deletion-Duplication
 15
 
 
8
Duplication
 1
 
 
8
Deletion
 10
 
 
8
Duplication
 3
 
 
8
Deletion-Duplication
 17
 
 
8
Deletion
 2
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 4
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 2
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 8
 
 
8
Deletion
 3
 
 
8
Deletion-Duplication
 12
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 35
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 14
 
 
9
Deletion
 2
 
 
9
Deletion
 2
 
 
9
N/A
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 2
 
 
9
Deletion-Duplication
 13
 
 
9
Duplication
 2
 
 
9
Deletion-Duplication
 30
 
 
9
Duplication
 5
 
 
9
Duplication
 3
 
 
9
Duplication
 1
 
 
9
Duplication
 3
 
 
9
Deletion
 2
 
 
9
N/A
 3
 
 
9
Deletion
 6
 
 
9
Deletion
 4
 
 
9
Deletion-Duplication
 10
 
 
9
Duplication
 2
 
 
9
Duplication
 1
 
 
9
Deletion
 2
 
 
9
Deletion
 4
 
 
9
Deletion
 2
 
 
9
Deletion
 4
 
 
9
Deletion
 1
 
 
9
Deletion
 1
  </