GS19669 - GET-Evidence variant report

Variant report for GS19669

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31505619 / 32745825 = 96.21%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.83968719452599846138945416-945616, 947528, 947686-947691, 965908-965921, 966059-966123, 966416-966511, 966519-966552, 966573-966608, 966620, 966721-966783, 967299-967300, 969110-969113, 971411-971418, 971658-971661, 971677-971713, 971720-971757, 971802-971832, 971859-971889, 971937-971965, 972115-972124, 972181, 972185-972189, 972195-972196, 973281-973284, 973364-973371, 973453-973608, 974500, 974523, 974560-974574, 974583, 975033-975038, 975158-975161, 975275-975280, 976696-976711, 976753, 976819-976822, 976829-976834, 976841-976843, 976857-976858, 976877-976888, 980114-980120, 980149, 980157-980165, 980169, 980175
2GABRD10.945548197203837413591940723-1940790, 1951374-1951378, 1951413
3PEX1010.8520653218059615410412327067-2327071, 2327783-2327794, 2327806, 2328134-2328144, 2329861-2329872, 2329998-2330001, 2330056-2330064, 2330074-2330075, 2333704-2333801
4NPHP410.990889978976873942815857707-5857745
5ESPN10.6358674463937693425656407603-6407768, 6407774-6407865, 6407871-6407878, 6407882-6407883, 6423032-6423077, 6423273-6423455, 6423628, 6423631, 6428431-6428468, 6428479-6428498, 6428504, 6431309-6431353, 6431396-6431414, 6431423-6431641, 6431647-6431685, 6431711-6431712, 6434693-6434741, 6439844-6439846
6PLEKHG510.9118846033239328131896450842, 6451792-6451794, 6452295-6452297, 6452317-6452319, 6452940-6452946, 6453399-6453425, 6453521-6453531, 6456660-6456664, 6456673-6456739, 6456776-6456811, 6457098-6457182, 6457195-6457201, 6457213-6457234, 6479967-6479970
7KIF1B10.999058912102395531310279601-10279605
8PEX1410.9770723104056426113410581917-10581921, 10607018-10607022, 10607028, 10607035-10607045, 10607056-10607057, 10612584-10612585
9TARDBP10.994377510040167124511004943-11004949
10MTHFR10.998985286656522197111776572-11776573
11PLOD110.999542124542121218411946260
12CLCNKA10.9738372093023354206416225658-16225695, 16226482-16226483, 16231310, 16231314, 16231317-16231318, 16231342-16231344, 16232728-16232734
13CLCNKB10.9874031007751926206416245631-16245637, 16251293-16251304, 16255986-16255992
14ATP13A210.9819362122495164354317185317-17185330, 17186183-17186204, 17186224-17186245, 17195058-17195060, 17196237, 17199346, 17199591
15SDHB10.98932384341637984317223143-17223146, 17243911-17243915
16ALDH4A110.999408983451541169219075509
17PINK110.78522336769759375174620832629-20832747, 20832760-20833015
18ALPL10.9669841269841352157521776476-21776489, 21776641-21776677, 21776692
19HSPG210.991347905282331141317622038006, 22038046-22038052, 22053695, 22053705, 22053713-22053714, 22054052-22054063, 22071290-22071291, 22071700-22071702, 22071711-22071719, 22071728-22071732, 22072082-22072084, 22072111-22072114, 22086379, 22136235-22136297
20WNT410.9223484848484882105622320580-22320584, 22341926-22342002
21GALE10.984718242597916104723995248-23995258, 23995267-23995271
22FUCA110.9521770164168567140124058933-24058936, 24062313, 24066981, 24066985-24066988, 24067036-24067039, 24067087-24067093, 24067293-24067296, 24067309-24067343, 24067357-24067363
23LDLRAP110.903991370010798992725742777-25742864, 25762836
24SEPN110.89048473967684183167125999309-25999491
25HPCA10.907216494845365458233131726-33131732, 33131988-33132017, 33132026-33132042
26COL9A210.9893719806763322207040541893-40541895, 40542620-40542622, 40555441-40555456
27KCNQ410.8639846743295284208841022353-41022517, 41022537-41022547, 41022581-41022605, 41056817-41056855, 41056862-41056898, 41069415, 41076047, 41076570-41076573, 41076701
28CLDN1910.99851851851852167542974252
29LEPRE110.94889190411578113221143004767-43004772, 43004835-43004860, 43004927-43004933, 43004980-43004991, 43005001, 43005015-43005017, 43005042-43005073, 43005091-43005099, 43005181, 43005184, 43005190-43005195, 43005199-43005207
30SLC2A110.995943204868156147943168024-43168025, 43196892-43196893, 43196908-43196909
31MPL10.9795597484276739190843587538-43587541, 43587554, 43587560-43587575, 43587577-43587594
32MUTYH10.9808795411089930156945569706-45569709, 45569744-45569762, 45571811-45571812, 45571819-45571823
33MMACHC10.99175500588928784945747392-45747398
34POMGNT110.998991427130612198346435092-46435093
35STIL10.9956038272562717386747510447-47510451, 47520705, 47538410-47538411, 47539913-47539921
36ORC110.998066511987635258652611537, 52623509-52623512
37CPT210.998988366211432197753435241, 53435262
38DHCR2410.8742746615087195155155125150-55125263, 55125300-55125380
39PCSK910.9788359788359844207955278099-55278114, 55278140-55278149, 55290995, 55294316-55294320, 55301711, 55301758-55301762, 55301773-55301778
40LEPR10.999714122355631349865831043
41RPE6510.999375780274661160268686952
42RPL510.99664429530201389493079944-93079946
43ABCA410.9980944004690713682294234262-94234268, 94240025-94240029, 94270169
44AGL10.999782561426414599100134464
45COL11A110.972329118563311515457103116211, 103125030, 103136269-103136294, 103136835-103136874, 103137085-103137086, 103137131-103137138, 103178505-103178511, 103200059-103200063, 103208387-103208407, 103227681-103227684, 103227691-103227695, 103227708, 103244427-103244455, 103269276
46GSTM110.9756468797564716657110034670-110034672, 110034678-110034683, 110037408-110037414
47AMPD110.9991087344028522244115037590-115037591
48NGF10.995867768595043726115630234-115630236
49NOTCH210.976806903991371727416120341188-120341217, 120341231-120341268, 120341301-120341307, 120341357-120341363, 120341456-120341478, 120349485-120349491, 120349545-120349581, 120374132-120374133, 120413480-120413490, 120413523-120413532
50FLG10.996799606105373912186150543222, 150543480, 150543894-150543895, 150544669-150544676, 150546026-150546033, 150546698, 150546707-150546708, 150546959-150546970, 150546974, 150547946, 150547951, 150548569
51HAX110.998809523809521840152512578
52CHRNB210.99271040424122111509152807180, 152807186, 152811011-152811016, 152811020, 152811152-152811153
53GBA10.9944134078212391611153471618, 153471632, 153471664-153471670
54PKLR10.98898550724638191725153531056-153531062, 153536605-153536607, 153536611-153536619
55LMNA10.998236331569661567154372635
56LMNA10.98796992481203241995154351342-154351359, 154351364, 154351371, 154351375, 154372635, 154374921, 154374983
57SEMA4A10.99168853893263192286154391064-154391069, 154397381, 154397850-154397861
58NTRK110.952739439565041132391155097351-155097418, 155097445-155097466, 155097473-155097489, 155097525-155097526, 155115588-155115591
59ATP1A210.9996735226901713063158371949
60PPOX10.9993026499302611434159404979
61NDUFS210.9964080459770151392159438843-159438846, 159442906
62MPZ10.9086229086229171777159542317-159542362, 159542777-159542788, 159542799-159542802, 159542807-159542813, 159546253-159546254
63DDR210.9992211838006222568160955492, 160996365
64SLC19A210.96251673360107561494167721507-167721511, 167721578-167721628
65F510.9986516853932696675167776991, 167777004, 167777258-167777264
66MYOC10.99141914191419131515169872302-169872314
67NPHS210.94097222222222681152177811486-177811493, 177811515-177811518, 177811539-177811545, 177811569-177811617
68LHX410.9957374254049451173178466311-178466315
69RNASEL10.98787061994609272226180812019-180812020, 180812052-180812053, 180821559-180821581
70HMCN110.998284835580792916908184169436, 184310513, 184365723-184365725, 184407818-184407841
71CDC7310.9993734335839611596191357954
72CFH10.997835497835583696194925860, 194964099-194964103, 194973364, 194982864
73CFHR110.9758308157099724993195063866-195063875, 195063912-195063918, 195063977-195063983
74ASPM10.996933103316083210434195327809, 195336350, 195336403-195336407, 195337242, 195360680-195360683, 195360694-195360701, 195368062-195368066, 195382116-195382122
75CRB110.9995261786306624221195564209-195564210
76CACNA1S10.99644254713625205622199276416, 199276443-199276444, 199313701, 199313723-199313738
77PKP110.9995543672014312244199519480
78CD4610.98083333333333231200205997063-205997070, 206007032-206007046
79LAMB310.9991474850809933519207867514, 207867517, 207872691
80USH2A10.9925683900313911615609213915203-213915210, 213983167-213983171, 213983178-213983193, 214318085-214318089, 214318098-214318102, 214318108-214318125, 214563498-214563505, 214563562-214563563, 214662083-214662131
81PSEN210.9948032665181971347225138053-225138059
82ADCK310.99485596707819101944225238423-225238428, 225238432-225238435
83GJC210.259090909090919781320226412083-226412100, 226412106-226412111, 226412147-226412154, 226412166-226412214, 226412221-226412331, 226412345-226412449, 226412456-226412497, 226412508-226412580, 226412607-226412611, 226412625-226412890, 226412905-226412927, 226412936-226413160, 226413170-226413174, 226413200-226413202, 226413206, 226413216-226413235, 226413253-226413270
84ACTA110.92416225749559861134227634221-227634229, 227634403-227634407, 227634468-227634503, 227634516-227634519, 227634547-227634555, 227634640, 227634745-227634752, 227634784-227634795, 227635081-227635082
85AGT10.97119341563786421458228905524, 228912381-228912417, 228912601-228912603, 228912667
86GNPAT10.999021047479222043229465213-229465214
87LYST10.996843766438723611406233892882, 233892885, 233932771, 233932780-233932782, 233963442-233963446, 233974074-233974080, 234000084, 234000087, 234000152, 234010854-234010860, 234035827-234035833, 234038665
88ACTN210.950093109869651342685234916597-234916722, 234983927, 234983937-234983943
89MTR10.99684044233807123798235025659-235025660, 235126963-235126969, 235127565-235127567
90RYR210.9900697799248514814904235272445-235272462, 235272474-235272492, 235617248-235617254, 235686578-235686581, 235699064-235699065, 235796490-235796516, 235796568, 235820760-235820767, 235844625, 235857784-235857788, 235887867-235887890, 235962052-235962063, 236008638-236008642, 236008651-236008655, 236008666-236008674, 236011520
91FH10.99021526418787151533239735995-239735997, 239749523-239749529, 239749589-239749590, 239749594-239749595, 239749620
92NLRP310.9996785599485713111245648920
93NET1100.994416527079841017915444699-5444702, 5444708-5444713
94GATA3100.969288389513114113358137644, 8137649, 8137654-8137661, 8137728-8137751, 8140748-8140754
95PHYH100.9921337266478101713382026, 13382036-13382041, 13382048
96CUBN100.99613686534216421087216922379-16922381, 17072413, 17072425-17072428, 17072476-17072487, 17072492, 17125892-17125896, 17125933, 17125943-17125947, 17150273, 17182046-17182050, 17182144, 17182148-17182149, 17186554
97PTF1A100.3262411347517766598723521466-23521614, 23521629-23521678, 23521697-23522155, 23522164-23522170
98MYO3A100.998350855493718485126283884-26283885, 26486289, 26486380-26486381, 26505650, 26540881-26540882
99PDSS1100.91346153846154108124827026662-27026681, 27026687-27026772, 27034245-27034246
100RET100.96472346786248118334542892713-42892785, 42915971-42915988, 42920526-42920528, 42920575-42920586, 42926874, 42926893, 42929015-42929022, 42929998-42929999
101ERCC6100.9895136099955447448250361460, 50361464, 50361492-50361493, 50410781-50410823
102CHAT100.89942145082332226224750492276-50492440, 50492456-50492505, 50497940-50497941, 50503669-50503670, 50527617-50527622, 50540746
103PCDH15100.9839809134287794586855252114-55252137, 55257177-55257183, 55257196-55257228, 55257251-55257254, 55333065-55333078, 55613282-55613288, 55643757-55643758, 55643762, 56094025-56094026
104EGR2100.99580712788266143164243022-64243025, 64243794-64243795
105PRF1100.9754196642685941166872028244-72028269, 72028289, 72028431-72028443, 72028485
106PCBD1100.99047619047619331572318294-72318296
107SLC29A3100.999299719887961142872785979
108CDH23100.9991050119331791005673207505-73207509, 73207513, 73220119, 73241499, 73244810
109VCL100.95447870778267155340575427972-75428009, 75428018-75428033, 75428044-75428064, 75428089-75428139, 75502534, 75502537, 75524130-75524150, 75534943-75534946, 75535037-75535038
110LDB3100.9555860805860897218488456302-88456325, 88466064-88466097, 88466142-88466171, 88466207-88466208, 88466213, 88466275, 88466375-88466379
111GLUD1100.79785330948122339167788826342-88826348, 88844062-88844082, 88844088-88844105, 88844116-88844145, 88844153-88844167, 88844175-88844231, 88844239-88844247, 88844281-88844283, 88844321-88844371, 88844379-88844506
112FAS100.999007936507941100890764143
113LIPA100.9956120090978056, 90997313, 90997322-90997325
114ANKRD1100.99791666666667296092668672-92668673
115PDE6C100.999611951882031257795376415
116PLCE1100.999421045013754690996012335-96012337, 96054241
117ZFYVE27100.999200639488411125199508997
118HPS1100.98050404184498412103100167317-100167334, 100167350-100167369, 100167374, 100167377, 100176984
119COX15100.9935117599351281233101466125-101466132
120ABCC2100.999784389823214638101567085
121PAX2100.98460354118553201299102500446, 102577312-102577330
122FBXW4100.98062953995157241239103361125-103361133, 103361142, 103362190, 103444144-103444146, 103444219, 103444223-103444225, 103444304-103444309
123HPS6100.805841924398634522328103815222-103815249, 103815258-103815529, 103815540-103815573, 103815610-103815613, 103815624-103815633, 103815660-103815670, 103815727-103815733, 103815749-103815798, 103815805-103815807, 103815873-103815879, 103816038-103816041, 103816045-103816046, 103816051-103816053, 103816297-103816298, 103816530-103816532, 103816978, 103816982-103816986, 103817015-103817018, 103817235-103817236
124SUFU100.9319587628866991455104253911-104253997, 104254022-104254033
125CYP17A1100.98886705959398171527104582781-104582797
126COL17A1100.99221183800623354494105788175, 105788218-105788219, 105806801-105806832
127SHOC2100.9971412235563251749112761533-112761537
128HABP2100.9970291146761751683115331845, 115331855-115331856, 115331859, 115331863
129EMX2100.81686429512516139759119292769-119292823, 119292835, 119292838, 119292842-119292845, 119292860-119292887, 119292898-119292903, 119292914, 119292925-119292955, 119292984-119292990, 119293051, 119293107-119293110
130BAG3100.895254629629631811728121401178-121401357, 121426750
131HTRA1100.751212751212753591443124211159-124211495, 124211555-124211571, 124256219-124256223
132ACADSB100.9961508852963851299124758569-124758570, 124800559, 124800691-124800692
133UROS100.994987468671684798127493600-127493603
134TALDO1110.94378698224852571014737482-737495, 737535-737542, 737546-737548, 737558-737578, 753344-753346, 753390-753393, 753431-753434
135SLC25A22110.9084362139917789972782604-782628, 782649-782687, 782712-782715, 782887-782899, 784809-784815, 784897
136PNPLA2110.814521452145212811515809719-809905, 813737, 813998-814034, 814370-814398, 814650-814676
137CTSD110.962873284907184612391731904, 1741598-1741603, 1741610-1741621, 1741639-1741665
138TNNI2110.97325102880658134861818340-1818350, 1818899-1818900
139TNNT3110.9896238651102587711902909-1902911, 1903066-1903069, 1912237
140H19110.946778711484595710711974192-1974196, 1974202, 1974210-1974213, 1974399-1974428, 1974565-1974577, 1974724, 1974728, 1974731, 1974960
141IGF2110.825597749648381247112110917-2110919, 2110923, 2110953-2110954, 2117941-2117942, 2117953-2117976, 2117983-2118014, 2118022-2118064, 2118072-2118079, 2118087-2118095
142TH110.8834278512917518515872143520-2143532, 2144316-2144355, 2144439-2144459, 2144536-2144574, 2144750, 2147595-2147621, 2148501-2148544
143KCNQ1110.860167405219128420312422905-2423157, 2423207-2423211, 2423217-2423236, 2423282, 2423285, 2565379-2565382
144CDKN1C110.355415352260786139512861824-2861865, 2861887, 2861926-2861929, 2861940, 2862476-2862917, 2862940-2862941, 2862956-2863006, 2863012-2863018, 2863041-2863074, 2863157-2863171, 2863205-2863213, 2863275-2863279
145SMPD1110.9440928270042210618966368481-6368541, 6369310-6369344, 6369454-6369455, 6369671-6369672, 6369726-6369730, 6372370
146SBF2110.989369369369375955509794984-9794987, 10272138-10272192
147ABCC8110.9955752212389421474617373838-17373840, 17376540-17376541, 17454795, 17454873-17454880, 17454886, 17454894-17454899
148USH1C110.92592592592593200270017487488, 17487614-17487620, 17487682, 17487688-17487713, 17487720-17487764, 17487776-17487806, 17487823-17487862, 17487869-17487915, 17487936, 17505152
149HPS5110.998230088495586339018288964, 18288977-18288980, 18288991
150SLC6A5110.9903926482873923239420579297-20579317, 20579558, 20579621
151ANO5110.9828592268417247274222233569-22233615
152FANCF110.9929112522603392-22603396, 22603564-22603567
153PAX6110.9708431836091437126931780879-31780915
154WT1110.77992277992278342155432412920-32412923, 32412970, 32413014, 32413022-32413023, 32413035-32413039, 32413045-32413050, 32413061-32413098, 32413105-32413111, 32413129-32413134, 32413164-32413182, 32413193-32413445
155PDHX110.994687915006648150634894785-34894790, 34894799, 34948283
156RAG1110.9929757343550422313236551515-36551520, 36551534, 36551618, 36551676-36551679, 36552803, 36553462-36553470
157EXT2110.997681965693095215744185052-44185056
158ALX4110.91100323624595110123644287723-44287754, 44287844-44287889, 44287938-44287942, 44287974-44287983, 44288151, 44288155, 44288165-44288179
159SLC35C1110.9488584474885856109545783929, 45784209-45784248, 45784274-45784281, 45784448-45784449, 45784459-45784463
160PEX16110.99711815561963104145895855, 45895859, 45895862
161MADD110.9979773462783210494447252806-47252807, 47268028-47268035
162MYBPC3110.9939869281045823382547316805-47316806, 47321672-47321681, 47321728-47321737, 47324477
163SLC39A13110.9381720430107569111647388298-47388333, 47388348-47388351, 47390503-47390510, 47391542-47391562
164RAPSN110.997578692493953123947420828-47420829, 47426923
165SERPING1110.9760479041916236150357122320-57122333, 57122339-57122350, 57122361-57122370
166GIF110.999202551834131125459355784
167TMEM216110.99621212121212126460921851
168BEST1110.994880546075099175861475883-61475889, 61479784, 61479823
169ROM1110.996212121212124105662137364-62137365, 62137668, 62137901
170BSCL2110.999280057595391138962229514
171SLC22A12110.9699157641395950166264123767-64123773, 64123831-64123843, 64123850-64123879
172PYGM110.9849742981415638252964277598-64277600, 64277605, 64277613, 64277617, 64277621-64277623, 64277697, 64277710-64277714, 64278318-64278320, 64278347-64278349, 64283704-64283715, 64283725, 64283736-64283739
173MEN1110.999458874458871184864329722
174RNASEH2C110.979797979797981049565244303, 65244412, 65244693-65244699, 65244763
175CST6110.924444444444443445065536169-65536174, 65536919, 65536967-65536993
176BBS1110.997755331088664178266055015-66055018
177SPTBN2110.9953994144709333717366210005, 66210050-66210059, 66217409-66217415, 66224776-66224780, 66225312-66225315, 66228653, 66228875-66228877, 66228885, 66231708
178PC110.9847328244274854353766376614-66376648, 66376693-66376696, 66390234-66390238, 66390249-66390258
179AIP110.97180261832832899367014135-67014154, 67014373-67014377, 67014389, 67014393-67014394
180NDUFV1110.997849462365593139567136500-67136502
181NDUFS8110.951026856240133163367556213-67556231, 67560505-67560516
182TCIRG1110.9867629362214233249367566837-67566842, 67566847, 67566851-67566854, 67567908-67567915, 67567925-67567929, 67573154-67573161, 67573744
183LRP5110.9795792079207999484867836759-67836849, 67871927, 67950126, 67963951-67963955, 67963960
184IGHMBP2110.999329309188462298268430213-68430214
185DHCR7110.9579831932773160142870824088-70824091, 70824099-70824110, 70824211-70824245, 70824486-70824490, 70824496, 70824503-70824504, 70830016
186MYO7A110.9977436823104715664876545982, 76568447-76568454, 76568618, 76599943-76599946, 76599979
187FZD4110.9665427509293754161486343564, 86343567, 86343665-86343700, 86343753-86343761, 86343769-86343775
188MTMR2110.9943064182194611193295296701-95296707, 95296759-95296762
189DYNC2H1110.9908072614909211912945102496686-102496716, 102511872, 102519290, 102523734-102523739, 102523759, 102523763-102523769, 102549021-102549026, 102549032-102549055, 102549197, 102562217-102562219, 102562271-102562280, 102562286-102562290, 102567503, 102575387, 102587744-102587748, 102611623-102611628, 102629232, 102629236-102629243, 102635893
190ACAT1110.9992211838006211284107497556
191ATM110.99531130738196439171107603728-107603735, 107603802-107603809, 107701348-107701355, 107701440, 107707390-107707394, 107707861-107707869, 107709833-107709835, 107709838
192RDX110.9988584474885821752109612086, 109613499
193ALG9110.95751633986928781836111247317-111247355, 111247357-111247380, 111247397-111247410, 111247416
194DLAT110.97685185185185451944111402177-111402186, 111404785-111404808, 111415178-111415185, 111415208, 111415214-111415215
195DRD2110.9932432432432491332112786659-112786667
196APOA1110.9651741293532328804116211989-116212016
197FXYD2110.997716894977171438117198633
198C1QTNF5110.80737704918033141732118715408-118715410, 118716131-118716173, 118716187-118716232, 118716269-118716317
199ROBO3110.98485940879596634161124244081-124244088, 124244630-124244638, 124247636-124247642, 124251147-124251159, 124251166-124251177, 124251183-124251189, 124251399-124251403, 124253823-124253824
200ACAD8110.9935897435897481248133628726-133628732, 133628737
201WNK1120.9954022988505761305848522-848527
202WNK1120.978458525667931547149733104-733124, 733208-733254, 733396-733447, 733521-733523, 733530-733535, 840701, 865067, 865070-865072, 865464-865467, 876947-876950, 887280, 887286, 887335, 887340-887348
203CACNA2D4120.99941417691857234141773165, 1779847
204CACNA1C120.994360615759793765612575375, 2575378, 2659167, 2667893-2667894, 2668006-2668009, 2668084-2668106, 2668113-2668114, 2670566-2670568
205KCNA1120.99529569892473714884890960-4890966
206VWF120.9738213693437622184425973363, 5992972-5992996, 5995602-5995603, 5995983-5995989, 5997793-5997799, 5998129, 5998428-5998434, 5998600-5998606, 5999048, 6002187-6002193, 6002216-6002243, 6002264-6002294, 6010915, 6026161-6026164, 6036329-6036362, 6036426-6036455, 6036473-6036499, 6042447
207TNFRSF1A120.980994152046782613686308834-6308838, 6308842, 6308855-6308857, 6308862-6308864, 6308871-6308875, 6308945-6308947, 6309025, 6309037-6309041
208SCNN1A120.99751243781095520106341589, 6342956-6342959
209TPI1120.94666666666667407506846992-6846996, 6847052-6847086
210ATN1120.966414777497912035736915867-6915871, 6916137-6916203, 6916212-6916218, 6916582-6916622
211AICDA120.9983249581239515978648785
212GYS2120.9914772727272718211221603297-21603301, 21603306, 21603313-21603317, 21603324-21603329, 21607432
213ABCC9120.9946236559139825465021860075-21860078, 21889954-21889956, 21916826-21916829, 21916870-21916872, 21955119, 21959929-21959934, 21959938-21959941
214DNM1L120.9954771596562610221132723657-32723666
215PKP2120.9745425616547364251432940770, 32940775, 32940793-32940839, 32940895-32940909
216KIF21A120.985359005214673498638000037, 38006356, 38012997-38013000, 38020234-38020253, 38043234-38043238, 38046485-38046491, 38122996-38123025, 38123035-38123039
217LRRK2120.9977584388185717758438905636-38905643, 38930004, 38939566-38939569, 38990683, 39039482, 39047768-39047769
218IRAK4120.999276934201011138342453018
219VDR120.9914330218068511128446537633-46537642, 46559116
220COL2A1120.9827508960573577446446659597-46659614, 46663784-46663786, 46664140, 46664177, 46684318-46684371
221PFKM120.9927443448570217234346820808, 46820816-46820831
222MLL2120.966112916817145631661447707035-47707060, 47709522-47709526, 47710412-47710440, 47711697-47711730, 47712653-47712661, 47712893-47712903, 47712942-47712945, 47712964-47712968, 47712977-47712985, 47712992-47713041, 47713058, 47713138-47713149, 47713169-47713192, 47713209-47713239, 47713283, 47713497-47713507, 47713514-47713591, 47713793-47713801, 47713842-47713850, 47713895-47713899, 47713907-47713910, 47713913, 47713934-47713964, 47717468-47717470, 47717536-47717542, 47717548-47717590, 47717788-47717824, 47717861-47717872, 47718018-47718021, 47718025, 47718050, 47718055-47718058, 47718098-47718106, 47718119-47718128, 47718132-47718135, 47718152, 47718156, 47719585, 47720334-47720338, 47720360-47720367, 47720372-47720379, 47720457, 47722275, 47724288, 47724916, 47731574
223DHH120.90260285474391116119147769928, 47769999-47770009, 47770012-47770018, 47770028-47770030, 47770032, 47770097-47770138, 47770218-47770219, 47770385-47770433
224ACVRL1120.994047619047629151250594564-50594571, 50599157
225KRT81120.9749670619235838151850966327, 50970291, 50970332-50970336, 50971166-50971172, 50971360-50971375, 50971453-50971460
226KRT86120.9767282683093834146150982025-50982030, 50982043-50982044, 50982118-50982124, 50982312-50982318, 50983152-50983156, 50986165-50986171
227KRT83120.9844804318488523148250999393-50999415
228KRT6B120.9681415929203554169551128995-51128999, 51131795-51131801, 51131865-51131871, 51131929-51131935, 51132044-51132071
229KRT6C120.93569321533923109169551149302-51149308, 51149477-51149483, 51149815-51149819, 51149933, 51152175-51152195, 51152324-51152330, 51153369-51153375, 51153453-51153460, 51153524-51153531, 51153591, 51153599-51153604, 51153724-51153754
230KRT6A120.9893805309734518169551171580-51171586, 51171764-51171766, 51172850, 51172905-51172911
231KRT5120.93401015228426117177351195023, 51195032-51195033, 51195049-51195054, 51195068-51195121, 51195147-51195195, 51197805, 51199192-51199195
232KRT2120.998958333333332192051326908, 51331868
233KRT1120.9819121447028435193551355502-51355522, 51355556-51355562, 51356416-51356418, 51358781-51358784
234ITGA7120.9953134153485616341454372962-54372977
235RDH5120.984326018808781595754401864-54401878
236SUOX120.9987789987792163854684007, 54684018
237MYO1A120.998403575989785313255717063, 55718050-55718051, 55718055-55718056
238KIF5A120.9841884478864249309956230369-56230380, 56230389-56230422, 56230448-56230450
239CYP27B1120.997380484610354152756446073-56446076
240TSFM120.9959100204499497856462884-56462887
241GNS120.9770946353224838165963427929-63427949, 63439243-63439255, 63439320-63439323
242LEMD3120.96235380116959103273663849667-63849676, 63849726-63849728, 63849766-63849768, 63849874-63849879, 63849887-63849894, 63849925, 63850013, 63850016-63850055, 63850089-63850090, 63850136-63850163, 63850648
243CEP290120.9884408602150586744086989817-86989818, 86997085-86997117, 87000966, 87002638, 87002649-87002653, 87005688-87005690, 87029250, 87036580, 87036584, 87043154-87043158, 87043210-87043231, 87043254-87043260, 87048285-87048288
244HAL120.991894630192516197494913763-94913768, 94913774, 94913779-94913782, 94913789-94913792, 94913796
245TMPO120.9702637889688262208597433850, 97433905-97433943, 97434034-97434055
246SLC17A8120.9796610169491536177099298686-99298720, 99322014
247UNG120.9851380042462814942108019934-108019945, 108032114-108032115
248TRPV4120.9988532110091732616108736818-108736820
249ATP2A2120.97635027165229743129109203978-109204022, 109204029-109204056, 109262987
250ATXN2120.832064941653986623942110378393, 110392752, 110435579, 110520971-110521623, 110521647, 110521650-110521651, 110521693-110521694, 110521700
251PTPN11120.99214365881033141782111341299-111341312
252TBX5120.9955041746949371557113288499-113288505
253TBX3120.913530465949821932232113594422-113594431, 113596353-113596367, 113596376-113596380, 113596415-113596446, 113596487-113596488, 113596514-113596545, 113596571-113596576, 113596587-113596591, 113596601-113596608, 113596612, 113596616-113596617, 113596682-113596685, 113596703-113596713, 113596719, 113596732-113596764, 113596919-113596928, 113596946-113596948, 113605207-113605211, 113605215-113605222
254HNF1A120.9978902953586541896119919748-119919751
255EIF2B1120.997821350762532918122672281-122672282
256PUS1120.882398753894081511284130980221-130980242, 130980253-130980260, 130980270-130980294, 130980405-130980440, 130980447-130980484, 130991810-130991819, 130991924-130991935
257SACS130.988864628820961531374022810872, 22810877, 22847258-22847408
258PDX1130.8380281690140813885227392344, 27392348-27392350, 27392440, 27392495-27392497, 27392574-27392622, 27392652, 27396393-27396414, 27396432-27396435, 27396440, 27396581, 27396584, 27396674-27396710, 27396754-27396760, 27396814-27396820
259B3GALTL130.9525718102872471149730672222-30672291, 30789786
260BRCA2130.99853758408891151025731791214-31791221, 31798636-31798641, 31816707
261SPG20130.999500249875061200135807753
262FREM2130.9963196635120935951038159562-38159585, 38159638-38159642, 38159919-38159921, 38323191-38323193
263SLC25A15130.99779249448124290640280710-40280711
264TNFSF11130.980083857442351995442046444-42046450, 42046493-42046501, 42046505-42046506, 42046555
265SUCLA2130.995689655172416139247426356-47426358, 47469057-47469059
266RB1130.9799067097237256278747776083, 47776088-47776089, 47776093-47776096, 47776108-47776138, 47776160-47776170, 47776185-47776186, 47832196, 47853451-47853454
267RNASEH2B130.99041533546326993950382214-50382221, 50428591
268ATP7B130.997498863119611439851421880-51421882, 51440627-51440634
269CLN5130.9722222222222234122476464308-76464309, 76464376-76464407
270EDNRB130.994732881866067132977372703-77372708, 77373209
271SLITRK1130.9875657580105226209183351775-83351800
272GPC6130.999400479616311166892677776
273ZIC2130.47154471544715845159999432320-99432715, 99432723-99432810, 99432818-99432841, 99432871, 99432922, 99432935-99432941, 99432948, 99433005-99433041, 99433048-99433064, 99435314-99435315, 99435345-99435364, 99435578-99435600, 99435607-99435612, 99435622-99435662, 99435700-99435880
274PCCA130.9629629629629681218799539376-99539393, 99539411-99539469, 99707887-99707889, 99723531
275ERCC5130.99622552488795164239102258080-102258081, 102312509-102312520, 102312624-102312625
276COL4A1130.98862275449102575010109651821-109651823, 109651837-109651840, 109662253, 109757327-109757375
277F7130.913633119200571211401112809175-112809193, 112813010-112813019, 112813029-112813085, 112813119-112813146, 112813161-112813165, 112820963-112820964
278F10130.997273346966641467112825186, 112851573, 112851582-112851583
279GRK1130.9817073170731718984113369703, 113370136-113370139, 113373955-113373967
280TEP1140.9982242516489114788419911359-19911361, 19914226-19914231, 19920306, 19921623-19921626
281RPGRIP1140.99585599585616386120839020-20839035
282SLC7A7140.9889322916666717153622351960-22351976
283PABPN1140.6188925081433235192122860519-22860869
284MYH6140.9972508591065316582022939414-22939422, 22941758-22941764
285MYH7140.992252066115745580822955314-22955320, 22957399-22957406, 22957412-22957414, 22957427-22957430, 22958261-22958265, 22961316-22961333
286NRL140.7100840336134520771423620377-23620559, 23620567-23620570, 23620598-23620617
287PCK2140.996359854394187192323638099, 23638105-23638110
288TINF2140.998525073746312135623781331-23781332
289FOXG1140.66734693877551489147028306237-28306711, 28306832-28306844, 28306909
290COCH140.9836660617059927165330414024-30414048, 30419590, 30425247
291CFL2140.9940119760479350134253495-34253497
292NKX2-1140.62852404643449448120636056235-36056255, 36056278-36056311, 36056327-36056356, 36056367-36056397, 36056406-36056419, 36056449-36056678, 36056685-36056691, 36056697-36056704, 36056820-36056823, 36056864-36056872, 36058120-36058121, 36058127-36058129, 36058136-36058138, 36058144-36058152, 36059020-36059062
293PAX9140.9873294346978613102636202004, 36202158-36202159, 36202461-36202470
294FANCM140.999349276069634614744675112-44675113, 44715565, 44738905
295MGAT2140.9880952380952416134449157868-49157883
296C14orf104140.87669053301512310251449170345-49170358, 49170429-49170438, 49170500-49170600, 49170614-49170631, 49170681-49170693, 49170697, 49170708-49170747, 49170764-49170791, 49170800, 49170833-49170835, 49170840-49170850, 49170869-49170891, 49170985-49170987, 49171083-49171124, 49171278, 49171426
297L2HGDH140.993534482758629139249815004-49815005, 49848563-49848569
298PYGL140.9760220125786261254450480634-50480669, 50480696-50480702, 50480780-50480784, 50480789, 50480860-50480871
299GCH1140.8552456839309410975354438850-54438852, 54438978-54438984, 54438994-54439035, 54439041-54439047, 54439082-54439131
300SIX1140.98596491228071285560185315-60185326
301SYNE2140.99642926076047742072463527538, 63527552, 63527556, 63530306-63530307, 63534783, 63539404-63539408, 63553041-63553044, 63557875, 63567613-63567614, 63586082-63586088, 63588070, 63588400, 63614950-63614962, 63682560-63682570, 63713861, 63739281, 63746457-63746461, 63746474, 63746480-63746484, 63746492, 63746495, 63746498, 63746515-63746521
302RDH12140.98633017875921395167261602-67261614
303ZFYVE26140.9940944881889845762067285060-67285063, 67285077-67285096, 67312440-67312454, 67314642, 67343962-67343965, 67344007
304VSX2140.9797421731123422108673776207-73776213, 73776224-73776227, 73776355-73776365
305EIF2B2140.990530303030310105674541296-74541300, 74541341, 74541345-74541348
306MLH3140.999312242090783436274576447-74576448, 74578872
307FLVCR2140.999367488931061158175115258
308ESRRB140.9507651363938874150376034418-76034466, 76034496-76034498, 76034544-76034546, 76034854, 76034859, 76034916-76034930, 76034939, 76034942
309POMT2140.9835774522858437225376814962-76814963, 76856691-76856694, 76856713-76856743
310GALC140.9548104956268293205887485959-87485971, 87518322, 87529128-87529158, 87529166-87529213
311SPATA7140.9938888888888911180087952903, 87952910-87952911, 87952916-87952919, 87952924-87952927
312TTC8140.998062015503883154888377557, 88413470, 88413473
313FBLN5140.99925760950261134791427400
314ATXN3140.9751381215469627108691607100-91607125, 91629389
315VRK1140.994122586062137119196373888-96373894
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455SLC4A1170.9959795321637411273639690622-39690623, 39690666-39690667, 39692198-39692204
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457ITGA2B170.9903846153846230312039807944-39807955, 39807980-39807986, 39807994-39808000, 39813932, 39818578-39818580
458GFAP170.998460354118552129940346259-40346260
459PLEKHM1170.9965310627562311317140871084, 40886972-40886974, 40886986, 40887059-40887060, 40887188-40887191
460MAPT170.9969969969977233141416739, 41417077-41417079, 41417087-41417089
461WNT3170.9606741573033742106842200980-42200985, 42200991, 42206218-42206222, 42206334-42206337, 42206419, 42206422, 42250934-42250957
462ITGB3170.9742289818335461236742686227-42686285, 42724773, 42724890
463SGCA170.9664948453608239116445602653-45602677, 45602698-45602711
464COL1A1170.987258248009156439545617936, 45627187-45627188, 45627941-45627944, 45631635, 45631676-45631681, 45631778-45631813, 45631916-45631921
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467RAD51C170.984084880636618113154125051-54125068
468TRIM37170.997582037996557289554479879-54479884, 54513355
469CA4170.947816826411084993955582185, 55582195, 55582203, 55591438-55591462, 55591477-55591497
470TBX4170.93894993894994100163856888658-56888670, 56888725-56888762, 56888769-56888817
471ACE170.91838816628411320392158908188-58908436, 58919741-58919748, 58919762-58919765, 58928275-58928311, 58928317-58928332, 58928401-58928402, 58928441-58928444
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473POLG2170.999314128943761145859906965
474AXIN2170.9869668246445533253260963543, 60964191-60964217, 60964277-60964281
475SOX9170.86339869281046209153067629241-67629250, 67631333-67631340, 67631373-67631391, 67631409, 67631419-67631424, 67631520-67631526, 67631552-67631591, 67631597-67631711, 67631829-67631831
476COG1170.90927624872579267294368700820-68700835, 68700844-68701045, 68701060-68701098, 68701114-68701118, 68710840-68710843, 68710864
477DNAI2170.9900990099009918181869817792-69817798, 69817810-69817813, 69817833-69817839
478USH1G170.9985569985572138670427239, 70428155
479TSEN54170.90385831752056152158171024237-71024292, 71024422-71024432, 71024446-71024451, 71024471-71024511, 71024521-71024557, 71029679
480ITGB4170.96873285792649171546971237936-71237939, 71238036-71238043, 71238175-71238180, 71238625, 71238628, 71243992, 71245286-71245290, 71250075-71250080, 71250302-71250303, 71250336-71250337, 71250348-71250352, 71250366, 71261455-71261462, 71261528-71261627, 71263377-71263384, 71263395-71263399, 71263443-71263449, 71264659
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483SEPT9170.92220329358319137176172909964, 73006200-73006335
484GAA170.9944036376355416285975693149, 75693304, 75700983, 75701039-75701043, 75701270-75701271, 75701276-75701280, 75701288
485SGSH170.9668654738237250150975808645-75808652, 75808666-75808707
486FSCN2170.91969696969697106132077110731, 77114381-77114383, 77114397-77114443, 77114500-77114522, 77114534-77114564, 77114582
487LPIN2180.99851356373096426912941112-2941115
488TGIF1180.986733001658371612063442213-3442226, 3442260-3442261
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490AFG3L2180.95238095238095114239412366968-12367081
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495DSG2180.9865951742627345335727332214-27332257, 27372824
496DTNA180.997311827956996223230697972-30697977
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498MYO5B180.9915269515053247554745644531-45644535, 45644607, 45660791-45660797, 45675325-45675329, 45675334, 45683022, 45975135-45975161
499SMAD4180.987341772151921165946857069-46857089
500TCF4180.996031746031758201651075613-51075619, 51279304
501FECH180.993023255813959129053404791-53404793, 53404808, 53404812-53404816
502ATP8B1180.9834930777422862375653466784, 53466788, 53466836-53466884, 53515848-53515854, 53549896-53549898, 53549911
503RAX180.65225744476465362104155087275-55087286, 55087307-55087382, 55087391-55087415, 55087439-55087548, 55087562-55087608, 55091235-55091249, 55091256-55091268, 55091283-55091285, 55091327-55091372, 55091391-55091405
504CCBE1180.9484029484029563122155285016-55285048, 55285068-55285073, 55515486, 55515515-55515516, 55515522-55515542
505TNFRSF11A180.92382495948136141185158143566-58143640, 58186989-58186991, 58202974-58202976, 58203074, 58203076-58203088, 58203132-58203147, 58203154-58203161, 58203175-58203195, 58203200
506CTDP1180.91406791406791248288675540949-75540960, 75540972-75541182, 75541189-75541192, 75541197-75541203, 75541218-75541221, 75557036, 75575694-75575698, 75575704, 75575856, 75597446, 75597452
507ELANE190.75995024875622193804803884-803925, 803961-803964, 803981, 803984, 804262-804403, 807162-807164
508KISS1R190.387635756056817331197868520-868549, 868584-868671, 868704-868732, 868740-868746, 869544-869561, 869588-869639, 869646-869668, 870875, 870878, 870978-871009, 871058-871092, 871102-871106, 871290-871396, 871403-871560, 871567-871613, 871623-871648, 871667-871689, 871698-871748
509STK11190.976958525345623013021171382-1171388, 1177619-1177620, 1177626-1177646
510NDUFS7190.9984423676012516421339538
511GAMT190.92222222222222638101352298-1352299, 1352308-1352310, 1352368-1352388, 1352393, 1352397-1352403, 1352407-1352414, 1352432, 1352436-1352444, 1352447, 1352463-1352471, 1352475
512RAX2190.79639639639641135553721619-3721633, 3721693-3721739, 3721745-3721774, 3721920-3721928, 3721935-3721937, 3721941-3721946, 3722602-3722604
513MAP2K2190.923524522028269212034074781-4074872
514NDUFA11190.9953051643192524265847464, 5847467
515TUBB4190.939325842696638113356446233-6446237, 6446327, 6446568-6446570, 6446574-6446581, 6446590-6446617, 6446627-6446649, 6446671-6446680, 6446785, 6446950-6446951
516C3190.984775641025647649926644458-6644462, 6644467, 6648750-6648758, 6658087-6658118, 6658135, 6658214-6658215, 6658222-6658224, 6658235-6658240, 6658257-6658263, 6660741-6660744, 6660752-6660754, 6660769, 6662177, 6669387
517INSR190.976138828633419941497077651, 7244805-7244902
518MCOLN1190.981067125645443317437493657-7493660, 7500497-7500501, 7500508-7500522, 7504504-7504512
519PNPLA6190.980421686746997839847510828-7510830, 7510837, 7510852-7510858, 7512916-7512920, 7513552-7513553, 7520879, 7521903-7521915, 7521920-7521931, 7522259-7522261, 7522275-7522282, 7525849, 7525866, 7525880, 7526242-7526253, 7527349, 7529805-7529811
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522TYK2190.9865319865319948356410324705-10324739, 10325214-10325215, 10325232, 10337363, 10337368-10337373, 10337377-10337378, 10337399
523DNM2190.93838499808649161261310689919-10690079
524LDLR190.996515679442519258311061245, 11061271-11061278
525PRKCSH190.9558916194076970158711419337-11419376, 11419508-11419537
526MAN2B1190.9861660079051442303612619346, 12619356-12619367, 12619381-12619386, 12619410-12619412, 12620068-12620072, 12629276-12629281, 12629315-12629319, 12629330-12629333
527RNASEH2A190.99888888888889190012778599
528GCDH190.993925588458628131712863144-12863151
529CACNA1A190.831739707835331267753013179165-13179190, 13179215-13179220, 13179231-13179289, 13179298-13179324, 13179333-13179867, 13180574-13180580, 13180593-13180644, 13180685-13180700, 13180711-13180725, 13270387-13270393, 13270456-13270497, 13270514-13270635, 13270683-13270687, 13270696-13270721, 13270743-13270758, 13270799-13270804, 13270824-13270857, 13270871-13270904, 13477746-13477760, 13477787-13477893, 13477904-13477950, 13477976-13478038
530NOTCH3190.92061441286247553696615132895-15132913, 15132990-15132997, 15133001, 15133060, 15133159, 15133204-15133213, 15133215-15133221, 15142250-15142254, 15142313, 15142329-15142336, 15142354-15142355, 15142361-15142364, 15142486-15142493, 15142623, 15146089-15146095, 15149337-15149373, 15149484-15149511, 15149529-15149557, 15149566-15149851, 15149865-15149871, 15149882, 15172635-15172716
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532SLC5A5190.9746376811594249193217845954-17845991, 17846003-17846012, 17849822
533IL12RB1190.9914529914529917198918031758-18031769, 18038463, 18058572, 18058584, 18058591, 18058597
534COMP190.89797713280563232227418757308-18757312, 18757503-18757508, 18757526-18757537, 18757555-18757559, 18760063-18760076, 18760254-18760266, 18760311-18760323, 18760401-18760416, 18760433, 18760447, 18760453-18760470, 18760482-18760496, 18760532, 18760535, 18760985-18760993, 18761000-18761004, 18761009, 18761015, 18761019-18761023, 18761106, 18761751-18761818, 18761844-18761850, 18761885-18761891, 18762668-18762674
535CEBPA190.24233983286908816107738484217-38484221, 38484345-38484373, 38484379-38485160
536SCN1B190.950433705080554080740213565-40213604
537MAG190.9617224880382872188140482475-40482492, 40482572-40482574, 40482584-40482592, 40482915-40482950, 40482974-40482979
538PRODH2190.9658597144630755161140982811-40982815, 40995132-40995163, 40995176-40995186, 40995434-40995440
539NPHS1190.96833064949007118372641025019, 41028153-41028154, 41028235-41028236, 41028413-41028426, 41028445-41028470, 41028485-41028533, 41028750-41028752, 41028783, 41028904-41028914, 41028923-41028931
540TYROBP190.926900584795322534241090295-41090297, 41090927-41090948
541SDHAF1190.784482758620697534841178017-41178026, 41178036, 41178038-41178045, 41178064, 41178099-41178100, 41178148, 41178151-41178152, 41178156, 41178199-41178233, 41178241-41178251, 41178258, 41178279-41178280
542WDR62190.998250218722668457241250135-41250140, 41287699-41287700
543RYR1190.953628365416427011511743623260-43623261, 43635318-43635325, 43648624-43648627, 43648631-43648633, 43648720-43648725, 43648743, 43668166, 43668490-43668524, 43668554-43668556, 43679340-43679352, 43679358, 43684987-43685024, 43685086-43685089, 43689025-43689026, 43689330, 43690230-43690282, 43700059-43700061, 43705522-43705529, 43747456-43747472, 43747479-43747485, 43747513, 43747523-43747526, 43747557-43747578, 43747588-43748018, 43748039, 43748042-43748061, 43748201-43748203, 43748208-43748216
544ACTN4190.9777046783625761273643830264-43830274, 43830285-43830296, 43830302-43830311, 43830316-43830322, 43830382-43830387, 43906471-43906474, 43906478, 43906508, 43906698-43906702, 43908312-43908315
545DLL3190.83198707592892312185744681736, 44681863-44681864, 44685295-44685297, 44685303-44685305, 44685377-44685420, 44685431-44685484, 44685495-44685501, 44689612-44689737, 44689747-44689760, 44689775, 44689782-44689790, 44689833-44689867, 44689967-44689979
546PRX190.97606019151847105438645592490-45592491, 45592501-45592513, 45592787-45592788, 45592797, 45592803, 45593149-45593190, 45595257-45595259, 45601471-45601497, 45601596-45601609
547TGFB1190.9190110826939595117346528840-46528842, 46528853-46528861, 46528889-46528898, 46528943-46528946, 46550530-46550566, 46550580-46550586, 46550602, 46550751-46550774
548ATP1A3190.93855356171833226367847162623-47162642, 47162799-47162811, 47162840-47162849, 47162856-47162868, 47162928-47162929, 47162944-47162952, 47163085-47163088, 47163093, 47163170-47163189, 47163195-47163251, 47172408-47172448, 47172467, 47172488-47172520, 47180928, 47190067
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550APOE190.8343815513626815895450103738-50103776, 50103809-50103824, 50103875-50103878, 50103939-50103974, 50104076-50104093, 50104193-50104197, 50104205-50104226, 50104254-50104271
551BLOC1S3190.563218390804626660950374409-50374415, 50374483, 50374535-50374554, 50374621-50374629, 50374635-50374641, 50374658, 50374662-50374667, 50374689-50374723, 50374730-50374780, 50374786-50374835, 50374848-50374858, 50374869-50374911, 50374920-50374942, 50374994-50374995
552ERCC2190.9908015768725421228350548229-50548234, 50558849-50558853, 50558869-50558870, 50559008, 50559133-50559135, 50559150-50559153
553OPA3190.9963167587477254350724268-50724269
554SIX5190.76441441441441523222050961851-50961855, 50961971-50962000, 50963295-50963307, 50963344-50963345, 50963354-50963356, 50963363-50963367, 50963371, 50963380-50963382, 50963406-50963430, 50963439-50963451, 50963462-50963476, 50963482-50963489, 50963509-50963513, 50963526-50963587, 50963599-50963614, 50963626-50963942
555DMPK190.94021164021164113189050966107-50966108, 50966112-50966116, 50966129, 50966141-50966146, 50970111, 50977300, 50977349-50977408, 50977414-50977450
556FKRP190.69287634408602457148851950548-51950552, 51950575-51950584, 51950622-51950623, 51950669-51950672, 51950910-51950915, 51950966-51950990, 51951000-51951006, 51951012-51951076, 51951095-51951102, 51951118-51951166, 51951195-51951216, 51951238-51951251, 51951270-51951277, 51951279-51951293, 51951301-51951308, 51951317, 51951319-51951324, 51951332-51951338, 51951344-51951373, 51951419-51951521, 51951571-51951608, 51951887-51951900, 51951922-51951927, 51952011-51952014
557CRX190.972790053034451-53034477
558DBP190.7372188139059325797853830649-53830788, 53830800-53830862, 53830871-53830878, 53830889-53830894, 53830903-53830908, 53830915-53830926, 53830934-53830940, 53830950-53830952, 53830965, 53830971, 53830974, 53831030-53831033, 53832011-53832013, 53832020, 53832023
559MED25190.9665775401069575224455013423-55013424, 55013435-55013449, 55024054-55024055, 55024067-55024070, 55024960-55024962, 55025580-55025596, 55025921-55025945, 55030630, 55030642, 55031357-55031358, 55031362-55031364
560PNKP190.9738186462324441156655056677-55056680, 55056717, 55056853, 55057440-55057466, 55057659-55057663, 55057803, 55057807, 55062239
561MYH14190.9836992681304198601255405464-55405469, 55445692-55445695, 55445704-55445706, 55445711, 55456544, 55456563, 55456567-55456568, 55461946, 55461993, 55461997, 55462023-55462028, 55462035-55462051, 55462067-55462072, 55463245, 55471060-55471061, 55471100, 55471103, 55471900-55471905, 55471910-55471912, 55471918-55471924, 55471936-55471941, 55471946-55471952, 55476722-55476727, 55481729-55481730, 55481735-55481737, 55504731-55504733
562KCNC3190.521547933157431088227455515315-55515418, 55518077-55518100, 55518149-55518205, 55518218-55518238, 55518252-55518291, 55518358-55518382, 55518440, 55518453, 55518463-55518465, 55518697, 55523298-55523588, 55523595-55523601, 55523607-55523873, 55523906-55524151
563KLK4190.949019607843143976556102075, 56104349-56104350, 56104446-56104481
564NLRP12190.9814814814814859318659004901-59004910, 59005373-59005382, 59005466-59005473, 59005477, 59005648-59005670, 59005954, 59006198-59006203
565PRKCG190.86676217765043279209459077561-59077568, 59077596-59077636, 59077664-59077676, 59084708-59084755, 59084761-59084802, 59084808-59084815, 59084952-59084992, 59084998-59085070, 59093098, 59093627-59093630
566PRPF31190.999333333333331150059323319
567TSEN34190.8928188638799610093359387095-59387187, 59387259-59387265
568TNNT1190.948626045400244383760344138-60344140, 60344470-60344472, 60349614-60349616, 60349633-60349639, 60349861-60349887
569TNNI3190.908372827804115863360357275-60357285, 60359391-60359415, 60359428-60359439, 60359444, 60359503-60359505, 60359787-60359792
570TPO20.9507494646680913828021416336-1416337, 1459870-1459882, 1459924-1459933, 1459993, 1460043-1460057, 1460063-1460073, 1460090, 1460100-1460107, 1460163-1460165, 1460181-1460182, 1460199, 1460202-1460205, 1460224-1460266, 1460273-1460283, 1460328-1460334, 1476702-1476707
571RPS720.9897435897435965853601109-3601114
572KLF1120.9727095516569242153910101295-10101336
573LPIN120.9936401047512217267311829241-11829246, 11844733-11844740, 11872778-11872779, 11872809
574MYCN20.72903225806452378139515999638-15999642, 15999841-15999848, 15999885-15999933, 15999953-15999959, 16000014-16000019, 16000039-16000077, 16000101-16000319, 16000335-16000375, 16000400-16000403
575MATN320.90485968514716139146120075662-20075667, 20075697-20075698, 20075702, 20075708-20075729, 20075766-20075873
576APOB20.99328074788197921369221078709-21078714, 21086308-21086309, 21086504-21086505, 21120241-21120322
577POMC20.963930348258712980425237710, 25237772, 25237895-25237900, 25237932, 25237936-25237939, 25237966, 25237968-25237982
578HADHA20.996509598603848229226269986-26269988, 26271005-26271008, 26306654
579OTOF20.95779112445779253599426550427, 26550430-26550431, 26550445-26550446, 26550460, 26550463, 26550910-26550923, 26550955, 26550958, 26553263-26553415, 26553575-26553611, 26553620-26553659
580EIF2B420.997549019607844163227443185, 27445836, 27446362, 27446366
581C2orf7120.992242048099330386729147022-29147023, 29147147-29147148, 29148872-29148874, 29148919-29148921, 29148930, 29148935-29148953
582ALK20.9954760435944922486329996555-29996556, 29996640, 29996695, 29996749, 29996993-29996998, 29997003, 29997020-29997029
583XDH20.999000499750124400231414128-31414131
584SRD5A220.955380577427823476231659342-31659343, 31659347, 31659371-31659384, 31659387-31659400, 31659428-31659430
585SPAST20.80659103187466358185132142439-32142480, 32142504-32142819
586CYP1B120.90808823529412150163238155477-38155517, 38155549-38155558, 38155623-38155650, 38155675-38155676, 38155681, 38155689-38155719, 38155737-38155743, 38155791-38155811, 38155886-38155894
587SOS120.998750624687665400239092813, 39201025-39201028
588ABCG520.9524539877300693195643908653, 43912454-43912458, 43912463-43912483, 43912494-43912503, 43912507, 43912590-43912592, 43912598-43912611, 43912615-43912630, 43912677-43912681, 43912702-43912710, 43912719-43912726
589ABCG820.9940652818991112202243933472-43933473, 43955866-43955875
590LRPPRC20.9925925925925931418544056803, 44063013, 44076448-44076464, 44076542-44076545, 44076582-44076589
591SIX320.7647647647647623599945022788, 45022810-45022820, 45022838-45022889, 45022937-45022958, 45023009-45023022, 45023026-45023040, 45023045-45023053, 45023073-45023075, 45023102-45023114, 45023121, 45023146-45023190, 45023298-45023301, 45023374-45023379, 45025273-45025286, 45025325-45025349
592EPCAM20.964021164021163494547450149-47450174, 47450188-47450195
593MSH220.99821746880575280547493057, 47493074, 47493077, 47493153-47493154
594MSH620.94366887092824230408347863877-47864106
595LHCGR20.9866666666666728210048836176-48836179, 48836234-48836242, 48836259-48836262, 48836266, 48836273-48836282
596FSHR20.996168582375488208849043739, 49044019-49044025
597NRXN120.9880225988700653442550002820-50002821, 50633650-50633662, 50704167-50704168, 50704172, 51108263-51108267, 51108418-51108420, 51108557, 51108647-51108648, 51108751-51108774
598EFEMP120.9784075573549332148255947761-55947764, 55955602-55955606, 55998448-55998453, 55998461, 55998465, 55998469-55998475, 55998493-55998499, 55998526
599FANCL20.9772528433945826114358307367-58307392
600ATP6V1B120.993514915693910154271016628-71016632, 71016642-71016645, 71016652
601DYSF20.9966362325804921624371601427, 71601492-71601493, 71606920-71606925, 71606936-71606942, 71636645-71636649
602SPR20.6768447837150125478672968070-72968244, 72968254-72968275, 72968289-72968331, 72968341-72968354
603ALMS120.984724888035831911250473466505-73466517, 73466529-73466582, 73466591-73466613, 73466665-73466685, 73466697-73466726, 73505199-73505205, 73529512-73529545, 73637982-73637988, 73681507, 73681850
604SLC4A520.9979496192157341474366526-74366530, 74385124-74385125
605DCTN120.9934844930935625383774443701-74443721, 74451640-74451643
606MOGS20.9844868735083539251474542519-74542523, 74542591, 74545641-74545650, 74545658-74545659, 74545666-74545668, 74545672, 74545855-74545871
607HTRA220.9506172839506268137774610642-74610652, 74610711-74610715, 74610729, 74610774-74610780, 74610843-74610850, 74610859-74610875, 74610944-74610962
608SUCLG120.994236311239196104184539839-84539844
609GGCX20.9898989898989923227785636878, 85641517, 85642037-85642047, 85642052-85642061
610SFTPB20.9773123909249626114685744041-85744045, 85748776-85748794, 85748806, 85748810
611REEP120.947194719471953260686418113-86418144
612EIF2AK320.96717397791704110335188707714, 88707722-88707735, 88707745, 88707749-88707758, 88707769, 88707778-88707786, 88707809-88707826, 88707841-88707896
613TMEM12720.913528591352866271796294624-96294637, 96294643-96294655, 96294695-96294713, 96294734-96294738, 96294813-96294819, 96294824-96294825, 96294832, 96294845
614ZAP7020.9521505376344189186097706974-97706976, 97707140-97707162, 97707173-97707207, 97707231, 97707236, 97707241, 97707247, 97707257-97707273, 97720655-97720661
615RANBP220.983462532299741609675108713662, 108718455-108718461, 108718574, 108729623-108729626, 108734506-108734542, 108734813-108734819, 108737820, 108738088-108738094, 108738146, 108741336, 108741347, 108741381-108741387, 108745083, 108749219-108749225, 108749482-108749488, 108749639, 108749700-108749706, 108749747-108749753, 108749786-108749792, 108750436-108750445, 108750955-108750961, 108751060-108751074, 108751178-108751184, 108765599-108765602, 108765662, 108766529-108766532
616MERTK20.97833333333333653000112372784-112372844, 112439239-112439241, 112502724
617GLI220.883007771476585574761121271489-121271498, 121271505-121271507, 121442771-121442774, 121442781, 121442791, 121442805-121442806, 121442913-121442930, 121444617-121444626, 121446104-121446106, 121462289-121462300, 121462305, 121462310, 121462319, 121462467-121462471, 121462551-121462567, 121462577-121462580, 121462588-121462916, 121462922-121462976, 121463019-121463025, 121463086, 121463093-121463096, 121463104-121463106, 121463129-121463154, 121463266-121463271, 121463311-121463325, 121463513-121463516, 121463690, 121463694-121463696, 121463702, 121463709-121463712, 121463889, 121464135-121464138
618BIN120.98204264870932321782127525214-127525243, 127528029-127528030
619PROC20.911976911976911221386127895362, 127895367-127895369, 127896963-127896964, 127896969-127896972, 127897080-127897081, 127897098-127897153, 127897167-127897180, 127897189-127897199, 127897204-127897206, 127897345-127897370
620CFC120.66517857142857225672130996073-130996079, 130996144, 130996837-130996947, 130997240-130997296, 130997304-130997321, 131001777-131001793, 131001847-131001859, 131001893
621RAB3GAP120.9993211133740722946135594932, 135600674
622LCT20.9993084370677745784136307152, 136311123-136311125
623MCM620.98945660989457262466136333407-136333432
624ZEB220.972016460905351023645144863866-144863870, 144877960-144877980, 144878129-144878131, 144991315-144991387
625MMADHC20.997755331088662891150140525-150140526
626NEB20.99849804746173019974152126019, 152140975-152140982, 152141068-152141074, 152249586-152249599
627CACNB420.9955214331413971563152663728-152663734
628SCN2A20.9975074775673156018165896204, 165909347-165909351, 165919137, 165919166-165919169, 165919174-165919175, 165945951-165945952
629SCN1A20.99816574954144115997166557084-166557090, 166576967, 166604179-166604180, 166609862
630SCN9A20.99612403100775235934166791411-166791418, 166798137, 166841791-166841792, 166842961, 166842975-166842977, 166849344-166849346, 166849357, 166849363-166849365, 166858028
631ABCB1120.9994957135653123966169522788, 169522825
632SLC25A1220.9990181639666222037172458969-172458970
633ITGA620.944444444444441823276173000763-173000944
634CHRNA120.9992721979621511374175326668
635CHN120.99057971014493131380175577868-175577874, 175577881-175577886
636HOXD1320.619186046511633931032176665865-176666114, 176666121-176666241, 176666301-176666303, 176666400-176666402, 176666414-176666418, 176666460, 176666511-176666520
637AGPS20.9711684370258571977177965799, 177965829-177965874, 177965881-177965882, 177965956-177965957, 177965964-177965965, 177965983, 177965994, 177993286, 177993297
638PRKRA20.9628450106157135942179023943-179023972, 179023980-179023983, 179023993
639TTN20.99842386153923158100245179100562-179100563, 179100578-179100607, 179100621-179100652, 179119292-179119295, 179126747-179126750, 179131061, 179133703, 179133716-179133718, 179133724-179133733, 179138782-179138783, 179138798-179138799, 179142310, 179156580-179156582, 179184807, 179187467-179187468, 179208180-179208181, 179209419, 179218944-179218947, 179223241, 179247304-179247305, 179250741-179250747, 179257882-179257886, 179288487-179288489, 179288730, 179294042-179294043, 179301966-179301971, 179305640, 179306417, 179306473, 179356698-179356701, 179358612-179358627, 179358827-179358828, 179368049
640CERKL20.9943714821763691599182229789-182229796, 182229800
641COL3A120.98386730288571714401189568694-189568721, 189575269-189575270, 189575991, 189576007, 189579908-189579939, 189580483-189580484, 189580865-189580868, 189580897
642COL5A220.99777777777778104500189618189-189618195, 189637576-189637578
643PMS120.997856377277662799190440812-190440817
644MSTN20.999113475177311128190635221
645STAT120.99289835774523162253191568136-191568151
646HSPD120.9982578397212531722198060097-198060099
647CASP820.9962894248608561617201857859-201857860, 201857915-201857918
648ALS220.9989947728186654974202330675-202330676, 202334626-202334628
649ICOS20.998333333333331600204528639
650FASTKD220.9995311767463712133207361017
651CPS120.99267155229847334503211152724, 211163769-211163776, 211163815-211163836, 211213027-211213028
652ABCA1220.9884437596302907788215505650-215505651, 215507102-215507103, 215507117, 215507135-215507142, 215521683, 215524042-215524044, 215551296-215551300, 215562340-215562364, 215562398-215562432, 215562583-215562589, 215598748
653PNKD20.9965457685664941158218912847-218912850
654BCS1L20.9936507936507981260219234811-219234815, 219235571, 219235575, 219235578
655WNT10A20.838915470494422021254219453964-219453968, 219453974-219454006, 219454016, 219454026-219454035, 219465809-219465817, 219465826, 219465839-219465845, 219465849-219465854, 219465903-219465911, 219465915, 219465922-219465923, 219465939-219465945, 219465969-219466022, 219466035-219466043, 219466056, 219466060-219466074, 219466109-219466115, 219466141-219466165
656DES20.853503184713382071413219991454-219991457, 219991465, 219991470, 219991486-219991489, 219991500-219991541, 219991569-219991617, 219991643-219991650, 219991657-219991693, 219991832-219991875, 219991948-219991955, 219991959-219991961, 219991976-219991981
657OBSL120.841504129327019025691220124496-220124502, 220124529-220124558, 220124648-220124655, 220124666-220124670, 220125100-220125106, 220125155-220125161, 220125506-220125507, 220125546-220125585, 220125591-220125617, 220125624-220125658, 220125844-220125862, 220125868-220125907, 220143374-220143377, 220143450-220143453, 220143495-220143498, 220143531-220143563, 220143569-220144198
658PAX320.99275362318841111518222871502-222871512
659COL4A420.99111374407583455064227650922-227650963, 227676959-227676961
660COL4A320.9934171154997335013227737716-227737728, 227836843, 227870677, 227871710-227871712, 227871715, 227871719-227871724, 227871729-227871736
661SLC19A320.9738430583501391491228272213-228272251
662CHRND20.98970398970399161554233099170-233099185
663CHRNG20.99613899613961554233113595-233113596, 233113643, 233113654, 233117350, 233117447
664COL6A320.99706314243759289534237909614-237909622, 237913889-237913892, 237948169-237948171, 237948185-237948188, 237950639-237950640, 237968190-237968192, 237968576-237968578
665AGXT20.96776929601357381179241456957-241456994
666D2HGDH20.911877394636021381566242323418-242323439, 242323466-242323471, 242323475-242323480, 242323598-242323601, 242338263, 242338273-242338277, 242355932-242355935, 242355960-242356049
667AVP200.284848484848483544953011276-3011448, 3011623-3011698, 3011710-3011735, 3011746-3011824
668PANK2200.734384121424445517133817785-3817811, 3817842-3817888, 3817899-3817928, 3817936-3818065, 3818077-3818088, 3818094-3818146, 3818178-3818224, 3818233-3818250, 3818256-3818306, 3818313-3818344, 3818359-3818366
669JAG1200.9803117309269972365710568305, 10602108-10602178
670C20orf7200.9653179190751436103813730142-13730149, 13730204-13730219, 13730239-13730243, 13730257-13730260, 13730271-13730273
671THBD200.90104166666667171172822976414, 22976450, 22976694, 22976892-22976896, 22977304-22977308, 22977460, 22977534-22977537, 22977542-22977544, 22977574-22977605, 22977637-22977642, 22977660-22977675, 22977687-22977694, 22977709-22977737, 22977742-22977743, 22977865, 22977874-22977899, 22978015-22978019, 22978025, 22978029, 22978037-22978040, 22978046-22978054, 22978081-22978086, 22978099-22978102
672SNTA1200.81554677206851280151831463806-31463808, 31494805-31494809, 31494816-31495087
673GSS200.999298245614041142532987105
674GDF5200.9634794156706555150633485832, 33485837-33485845, 33488492-33488515, 33488548-33488557, 33488575-33488585
675SAMHD1200.995746943115368188135013282-35013284, 35013317-35013321
676ADA200.999084249084251109242713631
677CTSA200.9786239144956632149743953643-43953661, 43953663-43953668, 43957105-43957111
678SLC2A10200.9913899138991414162644787565-44787569, 44787586-44787593, 44788300
679DPM1200.99744572158365278348995685-48995686
680SALL4200.981973434535157316249841709-49841712, 49841722-49841751, 49852236-49852237, 49852240-49852247, 49852275-49852276, 49852283-49852292, 49852299
681VAPB200.92076502732245873256397922-56397979
682STX16200.99795501022495297856679651-56679652
683GNAS200.955284552845533373856848586-56848589, 56848711-56848725, 56848760-56848773
684GNAS200.95375722543353144311456862306-56862307, 56862311, 56862494-56862499, 56862503, 56862649-56862664, 56862792-56862799, 56862893-56862899, 56863011-56863048, 56863079-56863082, 56863139, 56863227-56863241, 56863279, 56863323-56863330, 56863386-56863393, 56863452-56863454, 56863469, 56863477-56863489, 56863508-56863513, 56863568-56863569, 56863770, 56863773, 56863779
685COL9A3200.92554744525547153205560918862-60918939, 60919388-60919414, 60921030-60921031, 60926788-60926806, 60939001-60939026, 60940551
686CHRNA4200.91613588110403158188461451570-61451571, 61451670-61451702, 61451855-61451860, 61451965, 61452028-61452055, 61452060, 61452070, 61452173-61452180, 61452385-61452386, 61462886-61462961
687KCNQ2200.91752577319588216261961508487-61508490, 61508800, 61508807, 61516853, 61516860-61516868, 61544215, 61544218, 61544324-61544327, 61547126-61547127, 61573965-61573971, 61573977-61574006, 61574034-61574040, 61574047-61574140, 61574162-61574178, 61574224-61574260
688SOX18200.16103896103896969115562150032, 62150035, 62150106-62150116, 62150156-62150199, 62150206-62150759, 62150956-62151313
689APP210.9952442715088611231326316055-26316057, 26464802-26464809
690BACH1210.9954771596562610221129636888, 29636894-29636895, 29636907-29636913
691SOD1210.99354838709677346531953954-31953956
692IFNGR2210.9161735700197285101433697720-33697792, 33715769-33715775, 33721169-33721173
693KCNE2210.99462365591398237234664692-34664693
694RCAN1210.6679841897233225275934908929-34909180
695RUNX1210.92792792792793104144335086302-35086335, 35086387, 35086467-35086487, 35086570-35086576, 35181146-35181151, 35181183-35181203, 35181214-35181227
696CLDN14210.99861111111111172036755166
697HLCS210.99587345254479218137050859-37050866, 37230718
698CBS210.99939613526571165643352418
699CSTB210.777777777777786629744020513-44020578
700AIRE210.85836385836386232163844530318-44530449, 44531410-44531413, 44537308-44537331, 44537422-44537439, 44537472-44537486, 44538712-44538731, 44538782-44538795, 44538801-44538805
701ITGB2210.95670995670996100231045131200-45131202, 45131207-45131209, 45133036-45133041, 45133046-45133048, 45133053-45133059, 45133075-45133104, 45133111-45133148, 45133158-45133167
702COL18A1210.9484649122807235456045699898-45699936, 45700283-45700284, 45700477-45700479, 45720790, 45731203-45731204, 45731209-45731210, 45731216, 45731219-45731232, 45737893-45737904, 45739708, 45748838-45748880, 45749587-45749597, 45749734-45749737, 45753741, 45753878-45753885, 45753897-45753899, 45754446-45754462, 45754483-45754515, 45754525, 45754532, 45754561-45754570, 45754577-45754587, 45755488, 45756644-45756657
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731SUMF130.99466666666667611254483767-4483770, 4483852-4483853
732ITPR130.99987704414115181334749902
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760ROBO230.999516557892192413777749549, 77754181
761CHMP2B30.99844236760125164287377689
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763CPOX30.7992673992674274136599794545, 99794611-99794657, 99794673-99794703, 99794765-99794779, 99794794-99794917, 99794927-99794948, 99794975-99795008
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767ATP2C130.9971929824561482850132143141-132143148
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770PLOD230.9986824769433532277147285659, 147310818-147310819
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800QDPR40.88435374149668573517122672-17122724, 17122744-17122775
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832SLC6A350.98980139559851918631467806-1467823, 1467830
833MTRR50.993572084481181421787922261, 7923948-7923958, 7936318, 7938944
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836FAM134B50.81124497991968282149416528070-16528073, 16528078, 16669778-16669786, 16669792-16669901, 16669923-16670080
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840LIFR50.99969641772921329438518526
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842MOCS250.99823633156966156752438697
843NDUFS450.99621212121212252852935097, 52977845
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847SMN250.974011299435032388570274129, 70276273-70276294
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850AP3B150.9838660578386653328577447707, 77447760-77447767, 77447780, 77599133-77599175
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854MEF2C50.999296765119551142288092859
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857APC50.9990623534927388532112182709, 112202752, 112203323, 112204140, 112205527-112205530
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859HSD17B450.9007092198581628282118889550-118889575, 118889616-118889617
860ALDH7A150.99088541666667141536125922863-125922867, 125931939-125931947
861LMNB150.881317433276552091761126141100-126141199, 126141214-126141220, 126141250-126141283, 126141300-126141313, 126141319, 126141323-126141333, 126141340-126141360, 126141366-126141368, 126141380-126141382, 126141384-126141389, 126141395-126141403
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864TGFBI50.9980506822612142052135392720-135392723
865MYOT50.98329993319973251497137249636-137249645, 137249685, 137249751-137249757, 137250862-137250868
866MATR350.99410377358491152544138679757-138679760, 138686430-138686440
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870ADRB250.98872785829308141242148186658, 148187255, 148187259-148187269, 148187692
871SH3TC250.9997414016033113867148364618
872SLC26A250.9995495495495512220149337903
873TCOF150.9981621869974784353149728620-149728622, 149734041, 149734472-149734475
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875IL12B50.998986828774061987158686364
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877MSX250.83955223880597129804174084309, 174084322-174084325, 174084354-174084389, 174084415-174084420, 174084443-174084474, 174084484-174084533
878NSD150.99851687059696128091176653825-176653836
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880F1250.98917748917749201848176762870-176762875, 176763108-176763112, 176763124, 176763565, 176764242-176764248
881PROP150.989720998531577681177352618, 177355479-177355484
882GRM650.821184510250574712634178348585-178348633, 178354080, 178354097-178354100, 178354105-178354126, 178354137-178354148, 178354162-178354167, 178354175-178354551
883SQSTM150.863189720332581811323179180543-179180580, 179180594-179180722, 179180734-179180747
884FLT450.97702834799609944092179978418, 179978421, 179978487-179978518, 179978525-179978526, 180009094-180009151
885FOXC160.4542719614921890716621555699-1555706, 1555743-1555783, 1555828-1555832, 1555873-1555878, 1556021-1556030, 1556143-1556144, 1556183-1556199, 1556286-1557044, 1557053-1557083, 1557117-1557118, 1557148-1557151, 1557162-1557163, 1557169, 1557200, 1557204-1557208, 1557318-1557330
886TUBB2B60.9110612855007511913383170267-3170301, 3170391-3170402, 3170431-3170495, 3170568-3170574
887DSP60.99930362116992686167530962-7530966, 7531010
888TFAP2A60.9792626728110627130210506763-10506770, 10506775, 10506783, 10512778-10512781, 10518313-10518315, 10518531-10518535, 10518547, 10518551-10518554
889DTNBP160.9488636363636454105615641468, 15759571, 15771028-15771079
890ATXN160.9375153244816435485, 16435787-16435938
891NHLRC160.997474747474753118818230497, 18230810-18230811
892ALDH5A160.90406800242866158164724603228-24603250, 24603266-24603296, 24603312-24603389, 24603403-24603417, 24603426-24603429, 24603446-24603452
893HLA-H60.938666666666674675029963820-29963852, 29963878-29963884, 29964402-29964405, 29964504, 29964519
894NEU160.999198717948721124831935566
895CFB60.999564270152511229532022150
896CYP21A260.93077956989247103148832114179-32114218, 32116427-32116433, 32116691-32116714, 32116855-32116886
897TNXB60.99253672715846951272932117627-32117651, 32118102-32118108, 32118248-32118254, 32118707-32118714, 32119214, 32119227, 32120151, 32120243-32120262, 32120279-32120292, 32120297-32120300, 32120306, 32120312, 32123655, 32171553-32171556
898HLA-DQA160.4700520833333340776832713235-32713236, 32713241, 32713271-32713275, 32717076-32717084, 32717091-32717115, 32717125-32717154, 32717162-32717293, 32717727-32717728, 32717769-32717796, 32717827-32717830, 32717833, 32717924-32717933, 32717949-32717990, 32718375-32718384, 32718401-32718448, 32718462-32718519
899HLA-DQB160.3753180661577649178632737168-32737180, 32737206-32737212, 32737730-32737811, 32737821-32737848, 32740553-32740822, 32742272-32742362
900COL11A260.97313375551718140521133246101-33246106, 33247308-33247309, 33247519, 33247526-33247528, 33247809, 33248082-33248129, 33248312-33248352, 33249657-33249665, 33249963-33249968, 33262411, 33262415-33262428, 33267976-33267983
901SYNGAP160.89290193127665427398733496065-33496086, 33501553-33501599, 33501607-33501658, 33513759-33513770, 33513809, 33518889-33518911, 33518969-33518974, 33519117, 33519137, 33519144-33519145, 33519179, 33519195-33519197, 33519223-33519226, 33519230, 33519303, 33519438-33519676, 33519700, 33527601-33527610
902RPS1060.9859437751004749834500459-34500465
903FANCE60.92364990689013123161135528309-35528332, 35528338-35528408, 35528459, 35528531-35528548, 35531570-35531573, 35533327-35533331
904TULP160.9828115408225928162935587943-35587961, 35587981-35587985, 35588011-35588014
905GUCA1A60.99339933993399460642255050-42255053
906GUCA1B60.99336650082919460342260553-42260556
907PRPH260.975984630163325104142780144-42780168
908PEX660.95718654434251126294343054427-43054448, 43054459-43054462, 43054518-43054524, 43054595-43054644, 43054673-43054707, 43054724-43054727, 43054735, 43054750-43054752
909CUL760.998430449283898509743116335, 43116338, 43116730, 43116733, 43116781, 43123939-43123941
910RSPH960.8700361010830310883143720871-43720907, 43720963-43721004, 43721012-43721040
911RUNX260.88361581920904206177045498308-45498501, 45498591-45498594, 45588009, 45588035-45588036, 45588050-45588053, 45622839
912CD2AP60.9916666666666716192047671604-47671619
913MUT60.9644917887261480225349511260, 49524504-49524505, 49524575-49524581, 49527271, 49527334-49527348, 49529311-49529352, 49529423-49529427, 49531811-49531817
914PKHD160.99811860940695231222551591970, 51591995, 51726078, 51726087, 51726091-51726097, 51726109-51726110, 51876789-51876790, 51879038, 52000917-52000923
915LMBRD160.996919285274185162370504561-70504565
916COL9A160.996746203904569276670983347-70983353, 71038126, 71066774
917RIMS160.96889151407757158507972653483-72653488, 72653496, 72653512-72653515, 72948796-72948797, 72949016-72949019, 72949029-72949033, 72949054-72949066, 72949075-72949121, 72949150-72949169, 72949237-72949239, 72949318-72949320, 72949330-72949333, 73016865, 73058412-73058437, 73165398, 73165402-73165405, 73165494-73165499, 73165510-73165517
918SLC17A560.9341397849462498148874388403-74388406, 74420237-74420330
919MYO660.999222395023333385876656700, 76680526-76680527
920LCA560.9914040114613218209480253449, 80253542-80253555, 80253632, 80253998-80253999
921NDUFAF460.969696969696971652897445701-97445707, 97445813, 97445822-97445828, 97445873
922SIM160.99304650152108162301100975426, 100975430-100975437, 100975447-100975448, 100975452, 100975459-100975462
923PDSS260.9991666666666711200107887017
924SEC6360.964082347788822283108330879-108330880, 108385818-108385857, 108385867-108385906
925OSTM160.850746268656721501005108502265-108502272, 108502297-108502332, 108502410-108502440, 108502473-108502547
926FIG460.999265785609422724110160533-110160534
927COL10A160.9980420949583942043116548949-116548950, 116549077-116549078
928RSPH4A60.9990701999070222151117045135, 117057469
929GJA160.9930374238468281149121810245, 121810621-121810627
930LAMA260.99626188187547359363129555662, 129663650-129663660, 129677566-129677568, 129677604, 129677609, 129677618-129677625, 129790630-129790636, 129817065, 129866062, 129877398
931ARG160.998968008255931969131939544
932ENPP160.97177726926011742622132171058-132171080, 132214069, 132227762-132227768, 132245178-132245193, 132245247-132245273
933EYA460.99427083333333111920133810980-133810990
934AHI160.9994430520746323591135790013, 135801266
935PEX760.8981481481481599972137185497-137185514, 137185546-137185626
936IFNGR160.9993197278911611470137566350
937STX1160.9768518518518520864144549520, 144549687-144549691, 144549956, 144550065, 144550068, 144550099-144550102, 144550273-144550278, 144550302
938EPM2A60.69979919678715299996145990393, 146098027-146098324
939IYD60.994252873563225870150760922, 150760930, 150760933, 150760953, 150760956
940SYNE160.9957187239524111326394152496104-152496108, 152574336, 152574343-152574362, 152583751-152583757, 152587347-152587371, 152602407-152602411, 152706970-152706973, 152727733-152727734, 152731858-152731870, 152743959, 152743963-152743966, 152754396, 152767074-152767078, 152767124-152767142, 152772424
941PARK260.97353361945637371398161889928-161889964
942TBP60.899019607843141031020170712935-170713034, 170713046, 170713057-170713058
943LFNG70.6622807017543938511402526022-2526378, 2526396-2526406, 2526412-2526427, 2532479
944PMS270.989571263035922725895993311-5993312, 6003506, 6005338-6005344, 6005365-6005369, 6008658-6008662, 6012049-6012055
945TWIST170.5155993431855529560919123053-19123057, 19123072-19123075, 19123084-19123097, 19123110-19123125, 19123165-19123170, 19123177-19123189, 19123206-19123210, 19123218-19123227, 19123230-19123236, 19123255-19123469
946DNAH1170.99314765694076931357221549439-21549445, 21549466-21549492, 21549717-21549739, 21597442-21597450, 21597466-21597485, 21687788, 21748136, 21874004-21874007, 21886951
947FAM126A70.999361430395911156622952230
948HOXA170.994047619047626100827101842-27101847
949HOXA1370.58097686375321489116727205598-27205643, 27205779-27206221
950GARS70.9896396396396423222030601098-30601116, 30601280-30601283
951GHRHR70.996855345911954127230974978-30974980, 30976081
952RP970.7702702702702715366633103493, 33115358-33115509
953BBS970.997372372372377266433350768, 33511665-33511667, 33511717-33511719
954GLI370.95909761754164194474341971570, 41972031, 41972034, 41972083-41972123, 41972162-41972170, 41972197-41972238, 41972244-41972250, 41972335-41972336, 41972375-41972416, 41972530-41972552, 41972565-41972589
955GCK70.9721627408993639140144152598-44152631, 44152641-44152645
956CCM270.9767790262172331133545006458-45006487, 45080442
957EGFR70.9746765758326592363355054465-55054552, 55226927, 55236505, 55240716, 55240720
958GUSB70.998977505112472195665084396-65084397
959ASL70.9713261648745540139565191322-65191330, 65191566-65191596
960KCTD770.8344827586206914487065731487-65731630
961SBDS70.99867197875166175366097767
962ELN70.9613793103448384217573080454-73080493, 73080501-73080523, 73104029, 73104215-73104233, 73118214
963NCF170.88064791133845140117373831380-73831386, 73831569-73831607, 73835847-73835853, 73840345-73840368, 73840839-73840845, 73840914-73840916, 73840926-73840968, 73841396-73841405
964POR70.9711209006363259204375452145-75452185, 75452409-75452426
965HSPB170.909385113268615661875770116, 75770191-75770200, 75770216-75770258, 75770277, 75770302
966HGF70.996799268404217218781237190-81237196
967ABCB470.9979279979288386186869409, 86869412, 86869417-86869418, 86875361, 86906971, 86919029-86919030
968AKAP970.99249402934152881172491469292-91469295, 91509342, 91512330, 91545110-91545125, 91550628-91550659, 91552841-91552873, 91569908
969KRIT170.993215739484415221191668625, 91690083-91690093, 91690104-91690105, 91704980
970PEX170.9942886812045722385291986270, 91995561-91995573, 91995591-91995594, 91995598-91995600, 91995671
971COL1A270.9934162399414827410193868851-93868856, 93878344, 93887652, 93887663-93887664, 93887882-93887894, 93894286-93894289
972SGCE70.9815634218289125135694096992-94097015, 94097049
973SLC25A1370.9906311637080919202895589226-95589227, 95638730-95638731, 95789190-95789204
974TFR270.98711554447215312406100062909, 100062916, 100066558-100066559, 100068644-100068657, 100068840-100068842, 100069080, 100076576-100076579, 100076583, 100076587, 100076590-100076591, 100077056
975SLC26A570.9977628635346852235102802212, 102816739-102816742
976RELN70.996530789245453610377102978868-102978870, 102989226, 103017424, 103021440, 103032075-103032082, 103057823, 103416852, 103416965-103416980, 103417036-103417039
977SLC26A470.97865983781477502343107101969-107101971, 107110883-107110909, 107111196-107111215
978SLC26A370.9982570806100242295107219602-107219605
979DLD70.9993464052287611530107343301
980IFRD170.95575221238938601356111878024-111878062, 111889367-111889368, 111889412-111889430
981MET70.9997634255973514227116167344
982CFTR70.976817465676341034443116967471-116967484, 116975969-116976002, 116976074-116976113, 117031057-117031063, 117038923-117038927, 117038977-117038979
983IMPDH170.878333333333332191800127822310-127822313, 127833062-127833087, 127833113-127833155, 127837046-127837191
984FLNC70.979090242112991718178128257928-128257958, 128258076, 128258090, 128258097, 128258101-128258102, 128258115-128258153, 128258187-128258198, 128258231-128258256, 128264498-128264547, 128269978, 128285423-128285429
985ATP6V0A470.99326198969481172523138045026-138045032, 138087939-138087941, 138087953-138087958, 138088121
986BRAF70.98435462842243362301140270849-140270853, 140270868-140270898
987CLCN170.9973036737445282967142749174, 142752814-142752820
988CNTNAP270.97847847847848863996145444910-145444924, 145444946-145444983, 145444992-145444998, 146460404, 147500307, 147545411-147545434
989KCNH270.745689655172418853480150275043-150275075, 150275390-150275419, 150275489-150275493, 150275627-150275737, 150275854-150275855, 150279608-150279614, 150279828-150279849, 150286080-150286105, 150286137-150286495, 150302749-150302962, 150305859-150305934
990PRKAG270.95906432748538701710150960088-150960157
991SHH70.606911447084235461389155288355-155288821, 155288836-155288895, 155288964-155288966, 155288970-155288978, 155289100-155289106
992MNX170.39718076285247271206156490975-156490991, 156491005-156491074, 156491086-156491093, 156491104-156491113, 156491132-156491140, 156491148-156491233, 156492022, 156492025, 156492031, 156492036-156492041, 156492046-156492057, 156495119, 156495130-156495135, 156495150-156495153, 156495156-156495165, 156495167-156495170, 156495237-156495247, 156495287, 156495294-156495298, 156495305-156495310, 156495323, 156495328-156495333, 156495338-156495345, 156495353-156495712, 156495718-156495755, 156495761-156495805
993CLN880.9941927990708558611716053-1716055, 1716089-1716090
994GATA480.63506395786305485132911603240-11603278, 11603313, 11603351-11603372, 11603379-11603404, 11603410-11603416, 11603426-11603787, 11603793-11603797, 11603801, 11603807-11603818, 11603823-11603825, 11645090-11645096
995TUSC380.9894937917860611104715442355-15442360, 15442399-15442402, 15645447
996ASAH180.954692556634356123617969037-17969038, 17973113-17973129, 17973168-17973172, 17977336-17977363, 17986489-17986492
997SFTPC80.99494949494949359422077382-22077384
998NEFL80.93014705882353114163224869048-24869054, 24869142-24869156, 24869318-24869352, 24869404, 24869468-24869476, 24869486-24869491, 24869501-24869502, 24869550, 24869559-24869594, 24869617, 24869620
999CHRNA280.999371069182391159027377291
1000ESCO280.998892580287932180627690483-27690484
1001FGFR180.997164844066427246938406565-38406571
1002ADAM980.997560975609766246038973831-38973836
1003ANK180.99876018420127564641669534, 41673065-41673067, 41690917, 41699874-41699875
1004HGSNAT80.93448637316562125190843114797-43114914, 43143481-43143487
1005RP180.999690928759082647155696375-55696376
1006CHD780.9953302201467642899461896903-61896906, 61896929-61896932, 61897004-61897009, 61897016-61897017, 61897021-61897022, 61897137-61897151, 61897162, 61940412, 61940843-61940849
1007TTPA80.7933094384707317383764160931, 64160963-64161134
1008CYP7B180.9671268902038150152165691294-65691296, 65873635-65873681
1009EYA180.997751545812254177972408896-72408899
1010TMEM7080.99233716475096678375051191-75051196
1011CA280.956577266922093478386563563-86563596
1012CNGB380.999588477366261243087807921
1013NBN80.999558498896251226591045906
1014DECR180.998015873015872100891082959-91082960
1015TMEM6780.9885057471264434295894837182-94837183, 94846871-94846879, 94846991-94846996, 94847027-94847032, 94847039, 94847043-94847047, 94863099, 94886194-94886197
1016GDF680.64181286549708490136897226095, 97226206-97226207, 97226247-97226251, 97226255, 97226260, 97226266-97226267, 97226303-97226306, 97226328-97226466, 97226474-97226576, 97226583-97226625, 97226632-97226660, 97226666-97226715, 97226729-97226738, 97226742-97226746, 97226755-97226757, 97226777-97226823, 97226848, 97241830-97241838, 97241844-97241854, 97241987-97242005, 97242092-97242096
1017VPS13B80.998508575689781812069100192563-100192566, 100192627, 100192631-100192632, 100224401, 100563181-100563183, 100583210-100583211, 100583237, 100592685, 100802315-100802317
1018RRM2B80.9990530303030311056103289538
1019DPYS80.865384615384622101560105548069-105548075, 105548117-105548289, 105548295-105548324
1020KIAA019680.99367816091954223480126160327, 126160330-126160331, 126160336-126160354
1021KCNQ380.940435280641471562619133211237-133211239, 133215779-133215780, 133561685-133561689, 133561716-133561760, 133561792-133561816, 133561823-133561830, 133561847-133561854, 133561902-133561961
1022TG80.99602744673167338307133948433-133948435, 133951224-133951226, 133951235-133951253, 133952966-133952971, 133981754, 133981761
1023NDRG180.97637130801688281185134320341-134320344, 134343474, 134343481-134343503
1024SLURP180.996794871794871312143819616
1025CYP11B180.98280423280423261512143954130-143954134, 143955515-143955535
1026CYP11B280.909391534391531371512143990948-143990957, 143990959-143990971, 143990982-143990996, 143991031, 143991071-143991083, 143991252, 143991256, 143991263, 143991268, 143991277, 143991281, 143991703-143991708, 143991723-143991729, 143991805-143991824, 143993536-143993558, 143995610-143995632
1027PLEC80.86503023834934189714055145062340, 145062486-145062488, 145062897-145062899, 145063772, 145063972-145063981, 145064352-145064387, 145064530, 145064582-145064594, 145064598, 145064810-145064812, 145064815, 145064901-145064902, 145065148-145065154, 145065224-145065228, 145065360-145065366, 145065398-145065439, 145065587-145065616, 145065726-145065746, 145065812-145065832, 145065932, 145065960-145065996, 145066009, 145066015, 145066362-145066386, 145066728-145066731, 145066758-145066760, 145066976-145066981, 145067038-145067045, 145067057, 145067166, 145067269, 145067578-145067579, 145067584, 145067671-145067684, 145067693-145067694, 145067779-145067794, 145067801, 145067805-145067814, 145067928-145067933, 145067966-145067971, 145068097, 145068179, 145068187, 145068192-145068195, 145068215-145068266, 145068316, 145068356, 145068362-145068372, 145068377-145068383, 145068482-145068491, 145068502-145068551, 145068976-145068981, 145069079-145069121, 145069427-145069471, 145069498-145069508, 145069565-145069569, 145069615-145069616, 145069714-145069718, 145069748-145069751, 145069763, 145069767-145069768, 145069775-145069780, 145069811-145069865, 145069872-145069919, 145069955-145070000, 145070011-145070017, 145070082-145070085, 145070099, 145070109-145070112, 145070136-145070178, 145070204-145070206, 145070437-145070440, 145070468-145070484, 145070489-145070493, 145070519-145070544, 145070554-145070572, 145070629, 145070636, 145070641-145070646, 145070662-145070663, 145070695-145070721, 145070728-145070767, 145070775-145070778, 145070810-145070817, 145070842-145070942, 145070948-145070977, 145071098-145071128, 145071141-145071162, 145071211-145071256, 145071276-145071282, 145071299-145071338, 145071369-145071373, 145071396-145071445, 145071460, 145071463, 145071470, 145071506-145071554, 145071638-145071658, 145071673-145071696, 145071719-145071725, 145071744-145071779, 145071805, 145071817-145071854, 145071874-145071915, 145071980-145071984, 145071999-145072034, 145073661, 145073872, 145073876-145073880, 145074051, 145075278-145075287, 145075321-145075328, 145075335-145075344, 145075368-145075372, 145075381-145075385, 145075396-145075401, 145075570-145075577, 145075802-145075834, 145075877-145075886, 145075894-145075896, 145076128, 145076132-145076135, 145076337-145076348, 145076354-145076402, 145076579, 145076619-145076632, 145078139-145078151, 145078160-145078168, 145078188, 145078286-145078330, 145078340-145078347, 145078365, 145078371-145078375, 145078387-145078390, 145078589-145078590, 145078593, 145078655-145078657, 145078661, 145078668-145078674, 145078791-145078806, 145079018-145079020, 145079409, 145096714
1028GPT80.796780684104633031491145701450-145701456, 145701532, 145701601-145701605, 145701616-145701626, 145701635, 145701679-145701680, 145702041-145702118, 145702235-145702256, 145702271-145702319, 145702436, 145702528-145702562, 145702588-145702597, 145702695-145702735, 145702808-145702847
1029RECQL480.913151364764273153627145709181-145709184, 145709552-145709576, 145709578-145709581, 145709597-145709628, 145709646, 145709799-145709807, 145709880-145709904, 145710120, 145710134-145710135, 145710203-145710210, 145710216-145710222, 145712631-145712635, 145713606-145713647, 145713655-145713668, 145713683-145713700, 145713794-145713827, 145713893-145713976
1030DOCK890.98851706036745706096361525-361530, 361544, 372613-372615, 422166-422168, 442018-442074
1031VLDLR90.97444698703286726222612190-2612244, 2612260-2612271
1032KCNV290.9181929181929213416382708026-2708037, 2708209-2708215, 2708340-2708343, 2708398-2708421, 2708596-2708602, 2708614-2708620, 2708639, 2708729-2708737, 2708762-2708767, 2708926-2708982
1033GLIS390.9230218403150721527933846039-3846054, 4107831-4107865, 4107930-4107947, 4107954, 4107960, 4107963, 4108011-4108053, 4108092-4108098, 4108108-4108142, 4108319-4108330, 4108410-4108446, 4108819-4108827
1034SLC1A190.984126984126982515754480746-4480770
1035JAK290.988820241247433833995059207, 5067491-5067522, 5067528-5067532
1036GLDC90.968984655566449530636544680, 6579282-6579292, 6600220, 6635299-6635305, 6635385-6635392, 6635397-6635398, 6635402, 6635413-6635423, 6635432-6635484
1037TYRP190.999380421313511161412692414
1038CDKN2A90.98938428874735547121961180, 21961184, 21961187, 21964687-21964688
1039CDKN2A90.923371647509584052221961180, 21961184, 21961187, 21984153-21984160, 21984278-21984298, 21984356-21984363
1040B4GALT190.9273182957393587119733156884-33156890, 33156895, 33156907-33156934, 33156998-33157005, 33157102-33157144
1041VCP90.998760842627013242135062348-35062350
1042FANCG90.9941144997324811186935069199-35069209
1043NPR290.9821882951653956314435782569-35782595, 35782650-35782676, 35782723-35782724
1044GNE90.996905393457127226236207427-36207433
1045FXN90.883096366508697463370840533-70840580, 70840658-70840683
1046TRPM690.997857966716113606976533034, 76543233-76543239, 76543246, 76544707-76544708, 76567558, 76597474
1047VPS13A90.9951706036745446952579098146, 79098224-79098244, 79100349, 79120949-79120967, 79124403, 79148964, 79170292-79170293
1048AUH90.9735294117647127102093163803-93163806, 93163927-93163939, 93163979-93163988
1049ROR290.95480225988701128283293525843-93525864, 93535399-93535409, 93535419-93535452, 93752006-93752066
1050FBP190.999016715830881101796441267
1051PTCH190.94659300184162232434497249478-97249481, 97251223-97251229, 97251353, 97271243, 97279771, 97308510-97308516, 97308527-97308570, 97308579-97308583, 97308587-97308590, 97310288-97310302, 97310308-97310316, 97310331-97310464
1052FOXE190.16577540106952936112299656024-99656038, 99656047-99656208, 99656215-99656493, 99656499-99656849, 99656856-99656896, 99656908-99656972, 99657017-99657030, 99657035-99657036, 99657099-99657105
1053TGFBR190.93584656084656971512100907309-100907405
1054INVS90.99562226391495143198102028258-102028264, 102028276-102028277, 102042306-102042307, 102086548-102086550
1055ABCA190.9989684644857176786106601929-106601935
1056FKTN90.99567099567161386107403413, 107409952, 107410007-107410010
1057IKBKAP90.9987496874218653999110708499-110708502, 110713233
1058MUSK90.9988505747126432610112587636-112587638
1059DFNB3190.917400881057272252724116280677-116280686, 116306521-116306524, 116306624-116306630, 116306636-116306709, 116306720-116306726, 116306741-116306816, 116306825-116306868, 116306900-116306902
1060TRIM3290.9979612640163141962118499857-118499860
1061CDK5RAP290.99771207321366135682122211243, 122211248-122211253, 122241591, 122241606, 122341145, 122341150-122341152
1062GSN90.96807151979566752349123101983-123102056, 123129578
1063NR5A190.90043290043291381386126284966-126284997, 126295164-126295166, 126302388-126302394, 126302426-126302432, 126305211-126305249, 126305276-126305283, 126305320, 126305421-126305426, 126305432-126305436, 126305450-126305459, 126305476-126305495
1064LMX1B90.764968722073282631119128416619-128416625, 128416635-128416642, 128416657-128416688, 128417483-128417669, 128495858-128495859, 128495872-128495898
1065STXBP190.97958057395143371812129414504-129414540
1066ENG90.97319170460293531977129620366-129620374, 129620434, 129627421-129627423, 129627434-129627457, 129627849-129627853, 129627910-129627912, 129656416-129656421, 129656443-129656444
1067GLE190.9990462565569922097130306986-130306987
1068DOLK90.9950525664811481617130748747, 130748752, 130748813, 130748817, 130748844-130748847
1069TOR1A90.9449449449449455999131626020-131626031, 131626072, 131626141-131626182
1070POMT190.9981634527089142178133384651, 133386620-133386622
1071SETX90.99601692805576328034134129682-134129711, 134193747, 134195145
1072TSC190.9985693848354853495134761799-134761802, 134762818
1073CEL90.817261118450024152271134930343-134930346, 134934404-134934410, 134935815-134935839, 134936304-134936309, 134936319-134936350, 134936383, 134936464-134936466, 134936475-134936787, 134936805-134936808, 134936813-134936832
1074SURF190.9136212624584778903135212945-135212974, 135213097-135213124, 135213131-135213150
1075ADAMTS1390.954248366013071964284135283575-135283712, 135284880-135284888, 135284932-135284946, 135284951, 135284957-135284970, 135284989-135285000, 135288427-135288428, 135293259, 135311588, 135311591-135311593
1076DBH90.99352750809061121854135494833, 135512099-135512105, 135513342, 135513347-135513349
1077SARDH90.99274573812115202757135525559-135525564, 135563233, 135587366-135587367, 135588921-135588931
1078COL5A190.975348921515321365517136673855-136673963, 136732995-136733000, 136763177, 136763181, 136845669-136845678, 136856331-136856337, 136866736-136866737
1079LHX390.77419354838712731209138229158-138229162, 138229172-138229173, 138229179-138229181, 138229186-138229197, 138229326-138229330, 138229396, 138230469-138230476, 138230575-138230726, 138231444-138231452, 138234631-138234706
1080INPP5E90.776227390180884331935138446124-138446126, 138446133-138446141, 138446852-138446858, 138452881-138452882, 138452890-138452893, 138452968-138453010, 138453126-138453169, 138453263-138453274, 138453282-138453357, 138453436-138453484, 138453509-138453692
1081NOTCH190.962702138758482867668138510729-138510747, 138510779-138510788, 138511156, 138511284-138511324, 138511352-138511358, 138511500-138511501, 138511617-138511640, 138511668-138511708, 138511718-138511725, 138511762-138511765, 138511789-138511831, 138514913-138514919, 138515048-138515054, 138516683, 138516707, 138519982-138519987, 138522567-138522568, 138531642-138531643, 138560000-138560059
1082AGPAT290.78375149342891181837138691766-138691774, 138701450-138701526, 138701536-138701630
1083SLC34A390.8452791800139247528-139247550, 139247910, 139247972, 139248136-139248214, 139248382-139248426, 139248443-139248468, 139248511-139248516, 139248704-139248743, 139248756-139248786, 139250324, 139250409, 139250413, 139250563-139250575, 139250679-139250689
1084EHMT190.98212407991588683804139758300, 139758317-139758322, 139791083-139791085, 139815206-139815212, 139825737-139825740, 139849067-139849068, 139849091-139849128, 139849155-139849161
1085SHOXX0.84300341296928138879511764-511767, 511795, 511799, 511812, 515518-515560, 525163-525201, 525223-525225, 525229, 525253-525297
1086ARSEX0.99491525423729917702874143-2874151
1087STSX0.99828767123288317527204051-7204053
1088KAL1X0.929025942241814520438482037, 8551693, 8627740, 8659912-8659954, 8659979-8660077
1089GPR143X0.8886274509803914212759688805, 9693613-9693681, 9693687-9693748, 9693775-9693776, 9693784, 9693795, 9693827-9693831, 9693870
1090MID1X0.998003992015974200410402724-10402727
1091FANCBX0.999612403100781258014781099
1092PHKA2X0.9943365695792921370818822361-18822366, 18822377-18822391
1093RPS6KA3X0.998200629779584222320083464, 20089683-20089684, 20095702
1094SMSX0.9554950045413349110121868864-21868912
1095ARXX0.58792184724689696168924932833-24932835, 24932908, 24935210-24935257, 24935273-24935311, 24935356-24935358, 24935368-24935394, 24935446-24935452, 24940964-24940975, 24941086-24941111, 24941166-24941174, 24941182-24941278, 24941290-24941294, 24941318, 24941358-24941364, 24941370-24941733, 24941743-24941788, 24941834
1096NR0B1X0.972399150743139141330236508-30236515, 30236526-30236530, 30236549-30236555, 30236736-30236740, 30236900, 30236904-30236907, 30237149, 30237209-30237214, 30237396-30237397
1097GKX0.996991576413965166230581645-30581648, 30593574
1098DMDX0.99900524507144111105831074387-31074392, 32215732, 32429872-32429874, 32573145
1099RPGRX0.90228389708008338345938030250-38030547, 38030566-38030585, 38030599-38030605, 38030617, 38030646-38030648, 38030654, 38035619-38035623, 38067654-38067656
1100BCORX0.999810174639331526839807091
1101ATP6AP2X0.9648622981956337105340325262-40325298
1102NYXX0.49377593360996732144641217709-41217715, 41217726-41217763, 41217779-41218323, 41218332-41218335, 41218346-41218351, 41218410-41218423, 41218437-41218511, 41218590, 41218640-41218674, 41218875-41218877, 41218913-41218916
1103CASKX0.9960231381055711276641278956-41278957, 41305840, 41667178-41667185
1104MAOAX0.9892676767676817158443475958-43475972, 43475979-43475980
1105NDPX0.99751243781095140243694104
1106UBA1X0.999685237645581317746946839
1107SYN1X0.70963172804533615211847318368-47318369, 47318372, 47318386, 47318390-47318392, 47318396-47318397, 47318433-47318447, 47318452-47318454, 47318496-47318518, 47318531-47318537, 47318544-47318796, 47318824-47318869, 47318908-47318911, 47318917-47318923, 47319031-47319071, 47363707-47363713, 47363720-47363816, 47363876-47363879, 47363888-47363893, 47363926-47363945, 47363982-47363996, 47364002-47364022, 47364031-47364067
1108CFPX0.9730496453900738141047373922-47373958, 47373969
1109FTSJ1X0.99494949494949599048226114-48226118
1110WASX0.92776673293572109150948432017-48432019, 48432064, 48432127-48432198, 48432204-48432213, 48432243, 48432253-48432254, 48432297-48432309, 48432314-48432316, 48432662-48432665
1111PQBP1X0.99624060150376379848645224-48645226
1112SYPX0.983014861995751694248943574-48943589
1113CACNA1FX0.9929221435793742593448948542-48948543, 48948549-48948554, 48948751, 48954046-48954051, 48962119, 48974001-48974008, 48974257, 48974292-48974308
1114FOXP3X0.995370370370376129648997440-48997445
1115KDM5CX0.9953021567371322468353240393-53240397, 53240405-53240407, 53240414, 53240431, 53240439-53240440, 53242639-53242642, 53242813, 53247770-53247774
1116SMC1AX0.9959481361426315370253426805-53426809, 53452770-53452777, 53452900, 53452913
1117FGD1X0.95807345807346121288654489279-54489282, 54489287, 54489307-54489313, 54510969-54510976, 54513602-54513606, 54513837-54513862, 54538288-54538330, 54538400-54538405, 54538466, 54538469-54538470, 54538506-54538512, 54538560, 54538566-54538570, 54538575, 54538583-54538586
1118ARX0.89178429243576299276366681849-66681852, 66681869-66681964, 66682299-66682331, 66682717, 66682724-66682725, 66682872-66682890, 66682906-66682930, 66683058-66683174, 66683328-66683329
1119OPHN1X0.99833955998344240967330473, 67569559-67569561
1120EFNB1X0.993275696445737104167977043-67977049
1121EDAX0.994897959183676117668752921-68752925, 68753028
1122IGBP1X0.999019607843141102069270638
1123DLG3X0.94172779136104143245469581797-69581800, 69581810-69581811, 69581817-69581841, 69581847-69581872, 69581883-69581920, 69581959-69581979, 69581993, 69582003-69582005, 69582010-69582014, 69582061, 69582076-69582084, 69586387-69586394
1124MED12X0.97076828895011191653470255330, 70255336-70255382, 70255418-70255428, 70262667-70262676, 70268756-70268758, 70271419, 70272995-70273021, 70273076-70273082, 70277334-70277381, 70277418-70277420, 70277425, 70277827-70277858
1125GJB1X0.9906103286385885270361092-70361094, 70361104-70361108
1126TAF1X0.96761703625484184568270502890-70503069, 70523971-70523972, 70529193, 70529196
1127PHKA1X0.999727668845321367271757390
1128SLC16A2X0.87296416938111234184273558042-73558049, 73558058-73558199, 73558290-73558293, 73558305-73558344, 73558383-73558386, 73558428-73558431, 73558464-73558494, 73558546
1129KIAA2022X0.99956053614592455173878948-73878949
1130ATRXX0.999598876855193747976650717, 76700924-76700925
1131ATP7AX0.9977792582722610450377113904-77113910, 77145238, 77163170-77163171
1132PGK1X0.999202551834131125477256259
1133BRWD3X0.9868737289702371540979829098-79829110, 79830271-79830274, 79846939-79846945, 79846951-79846966, 79951596-79951626
1134POU3F4X0.9751381215469627108682650050-82650052, 82650702-82650703, 82650714-82650735
1135ZNF711X0.997375328083996228684406033, 84406037, 84411726, 84411729-84411731
1136CHMX0.999490316004081196285052948
1137PCDH19X0.96128251663642128330699438381-99438382, 99549970-99549973, 99549994, 99550005-99550015, 99550050-99550081, 99550091-99550130, 99550212-99550249
1138GLAX0.998449612403121290100545621-100545622
1139COL4A5X0.999406880189835058107698526, 107721095, 107756142
1140PAK3X0.9988525530694221743110293540, 110302923
1141DCXX0.99095022624434121326110540280-110540291
1142AGTR2X0.9990842490842511092115218542
1143UPF3BX0.9979338842975231452118861208, 118861212-118861213
1144LAMP2X0.9991909385113311236119474594
1145CUL4BX0.9992706053975222742119556558, 119565112
1146FRMD7X0.998135198135242145131039780-131039783
1147GPC3X0.98852553069421201743132947058-132947077
1148PHF6X0.9981785063752321098133387012-133387013
1149HPRT1X0.9589041095890427657133422008-133422034
1150SLC9A6X0.93352326685661402106134895344-134895379, 134895425-134895431, 134895472-134895483, 134895489-134895555, 134895586-134895589, 134895599-134895605, 134895612-134895618
1151ZIC3X0.829059829059832401404136476539-136476540, 136476547-136476583, 136476647-136476681, 136476701-136476707, 136476921, 136478727-136478863, 136478870-136478890
1152SOX3X0.305741983594339311341139413551-139414227, 139414256-139414279, 139414303-139414324, 139414332-139414386, 139414403-139414436, 139414479-139414483, 139414494-139414515, 139414529-139414551, 139414581-139414621, 139414639-139414646, 139414712-139414731
1153AFF2X0.9997459349593513936147390348
1154MTM1X0.9977924944812441812149515674-149515677
1155SLC6A8X0.819182389937113451908152607224-152607485, 152611709-152611740, 152612664-152612666, 152612812-152612818, 152612993-152613013, 152613029-152613034, 152613435, 152613465-152613466, 152613482-152613491, 152613496
1156ABCD1X0.88873994638072492238152643962, 152643968, 152643994, 152644023-152644058, 152644079-152644119, 152644148-152644154, 152644189-152644193, 152644448, 152644611-152644618, 152644690, 152661667-152661680, 152661869-152661872, 152661899-152661920, 152662139-152662140, 152662145-152662148, 152662175-152662181, 152662208-152662241, 152662277-152662303, 152662325-152662342, 152662369-152662383
1157ABCD1X0.63106796116505114309152661899-152661920, 152662139-152662140, 152662145-152662148, 152662175-152662181, 152662208-152662241, 152662277-152662303, 152662325-152662342
1158L1CAMX0.9957604663487163774152786514-152786517, 152789085, 152794413-152794418, 152794472-152794476
1159AVPR2X0.98387096774194181116152825257-152825274
1160MECP2X0.93987975951904901497152949129, 152949375-152949401, 153016255-153016316
1161OPN1LWX0.937899543379681095153062975-153063010, 153063061-153063063, 153073288-153073314, 153077493-153077494
1162OPN1MWX0.817351598173522001095153101367-153101377, 153101383-153101390, 153101402-153101405, 153101414-153101416, 153101472, 153106531-153106537, 153106636-153106654, 153106684-153106690, 153108862-153108904, 153110418-153110444, 153110480-153110503, 153112233-153112277, 153114623
1163OPN1MWX0.807305936073062111095153138485-153138495, 153138501-153138508, 153138520-153138523, 153138532-153138534, 153138590, 153143649-153143655, 153143754-153143772, 153143805, 153145980-153146022, 153147536-153147562, 153147598-153147621, 153149308-153149323, 153149351-153149395, 153151741-153151742
1164FLNAX0.982502517623361397944153231018-153231019, 153241129, 153242094, 153246911, 153248294-153248299, 153248303, 153252435-153252467, 153252510-153252516, 153252556-153252597, 153252617-153252628, 153252723-153252755
1165EMDX0.951633986928137765153261087-153261091, 153261102-153261106, 153261251, 153261261-153261265, 153261272, 153261276-153261281, 153261336-153261348, 153262751
1166TAZX0.9797211660329516789153293406-153293421
1167GDI1X0.99107142857143121344153318828-153318839
1168G6PDX0.96825396825397521638153413431, 153413438, 153413441, 153413445-153413450, 153413494-153413499, 153413619, 153413662-153413664, 153413804-153413815, 153428259-153428279
1169IKBKGX0.96349206349206461260153433486, 153441819-153441822, 153441865-153441869, 153441878-153441885, 153441932-153441955, 153444258-153444259, 153445047, 153445784
1170IKBKGX0.99591002044992489153521531, 153522268
1171DKC1X0.9993527508090611545153650712
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5CASP10-I406Lhomozygous0.023Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
2.5ABCG8-D19Hhet unknown0.043Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests
2.5ABCG8-Y54Chet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
2.5ABCG8-T401Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.157 (benign), Testable gene in GeneTests
2.5ABCG8-V632Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2.5TGM1-V518Mhet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.634 (possibly damaging), Testable gene in GeneTests
2.5SDHB-S163Phet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests
2.5SCNN1A-T663Ahet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2.5SCNN1A-W493Rhet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.955 (probably damaging), Testable gene in GeneTests
2SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2EDNRB-S305Nhet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
1.5IL23R-L310Phomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5IL23R-R381Qhet unknown0.029Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging)
1.5IL7R-I66Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.5IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.5IL7R-T244Ihet unknown0.150Unknown
pharmacogenetic
Low clinical importance,
well-established
The interleukin-7 receptor alpha-chain gene (IL7R) codes for the receptor for IL-7, which is an important T-cell growth factor in T- and B-cell expansion. There is an association between the IL7R T244I polymorphism and multiple sclerosis. The T244I variation is located in an important transmembrane domain of IL7R.
1.5LPA-I1891Mhet unknown0.068Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5OPTN-M98Khet unknown0.055Unknown
pathogenic
Moderate clinical importance,
uncertain
This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.
1.5OPTN-K322Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ALG12-I393Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
1XPC-Q939Khet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1XPC-D472Shifthomozygous1.000Unknown
benign
Low clinical importance,
likely
This variant is found homozygously in all genomes. It may represent an error in the build 36 reference genome, in UCSC's knownGene transcript annotation, a consistent sequencing error, or some error in our own processing of genome data.
1XPC-S449Shifthomozygous1.000Unknown
benign
Low clinical importance,
likely
This variant is called heterozygously in all Complete Genomics genomes (build 36) we have examined. This almost certainly represents a consistent sequencing error (see Roach et al. 2010's description of "compression block").
1C17orf103-L78ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GRIP2-Q438Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNJ11-V337Ihet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KCNJ11-K23Ehet unknown0.711Unknown
protective
Low clinical importance,
likely
This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
1AKAP10-I646Vhet unknown0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AKAP10-R249Hhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ANXA11-R230Chomozygous0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1NPSR1-N107Ihomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NPSR1-C197Fhomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1NPSR1-S241Rhomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
1ATG9B-P766Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MYO5B-L1055LLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-R918Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-T126Ahomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPC1-R1266Qhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-I858Vhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihomozygous0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.222Complex/Other
protective
Low clinical importance,
likely
This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
1CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFTR-I1366Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ELAC2-S217Lhet unknown0.209Complex/Other
pathogenic
Low clinical importance,
uncertain
Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).
1PCDH15-T1869Delhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1PCDH15-Q1342Khet unknown0.008Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
1PCDH15-G380Shet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-M463Ihomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PTCHD3-*768Qhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-M521Thomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-D473Ghomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
1PTCHD3-C407Ghomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
1PTCHD3-S309Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C17orf100-A105ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AIM1-Q293Phet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1AIM1-C1395Yhomozygous0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
1SH2B3-W262Rhomozygous0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AK096472-T52Shifthomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATP7B-H1207Rhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-R448Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VCAN-K349Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-G428Dhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1EDN1-K198Nhet unknown0.235Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign)
1ABCC6-R1268Qhomozygous0.142Unknown
pharmacogenetic
Low clinical importance,
uncertain
This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
1ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-H632Qhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-V614Ahet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-R265Ghet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-A191Thet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C21orf62-N182ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TP53-P72Rhet unknown0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
1TYR-R402Qhet unknown0.063Complex/Other
benign
Low clinical importance,
well-established
This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.
1CYBA-Y72Hhomozygous0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C12orf60-K65RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C12orf60-N103KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C12orf60-M184ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R4-V448Ihomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1ANKK1-R185Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.822 (possibly damaging)
1ANKK1-A239Thet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
1ANKK1-G318Rhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1ANKK1-G442Rhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ANKK1-H490Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ANKK1-E713Khet unknown0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADAM8-E819Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAM8-F657Lhet unknown0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADAM8-W35Rhet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CPT2-D118Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.987 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FRZB-R200Whet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging)
1PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PADI6-R207Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GCKR-L446Phomozygous0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1IL6R-D358Ahomozygous0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
1F5-M1764Vhomozygous0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N1575Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-P1404Shomozygous0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-L1276Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehomozygous0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhomozygous0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FAAH-P129Thomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
1OTOF-R82Chomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1OTOF-A53Vhomozygous0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
1FRMD7-R468Hhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FRMD7-S438Shifthet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1ABCG5-Q604Ehet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
1ABCG5-R50Chet unknown0.070Unknown
protective
Low clinical importance,
likely
This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.
1DPYD-M166Vhet unknown0.050Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chet unknown0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1PRAMEF2-R33Shomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1PRAMEF2-V67Ghomozygous0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PRAMEF2-T72Rhomozygous0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
1PRAMEF2-L122Vhomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.914 (probably damaging)
0.5DNASE1L2-R221Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZNF174-R168Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5NLRP2-T221Mhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NLRP2-A1052Ehet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FANCI-P55Lhet unknown0.022Unknown
benign
Low clinical importance,
likely
Probably benign.
0.5ERCC4-R415Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DDX28-P135Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5DDX28-T4Ahomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX5-P635Shomozygous0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests
0.5SIX5-L556Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CD3EAP-Q504Khomozygous0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5SYMPK-A440Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTF3C1-R1630Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SRCAP-P1535Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5SEPT1-G80Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5GABRD-E400Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5HAPLN3-G106Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CCNDBP1-I277Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.88 (probably damaging)
0.5DUOX2-S1067Lhet unknown0.662Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P982Ahet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-R701Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhet unknown0.926Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-N799Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA13-R261Hhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA13-R301Whet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5SERPINA13-Q322Hhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLH3-P844Lhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HAAO-G235Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5HAAO-I37Vhet unknown0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP152-L914Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAB27A-R187Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5ADAMTSL3-H146Rhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhet unknown0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhet unknown0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PVRL2-R383Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5ALPK3-P1046Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5ALPK3-P1299Lhomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK3-L1622Phomozygous0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.895 (probably damaging)
0.5AGBL1-P223Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AGBL1-S435Phet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.354 (possibly damaging)
0.5NM_024776-R1071Khet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_024776-R970Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ETFA-T171Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PLEKHO2-R400Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5APOB-S4338Nhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-E4181Khet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous0.994Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-P771Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-A618Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GPR142-G290Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PODNL1-P428Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SYCE2-H89Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC041481-F380Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NSF-V361Mhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EME1-E69Dhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EME1-K137KQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EME1-I350Thet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.292 (possibly damaging)
0.5EME1-A466Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5TSEN54-K347Nhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests
0.5TSEN54-A437Vhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TSEN54-R490Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.5ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LAMA3-N2815Khet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-S3118Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MPND-P423Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZFR2-R521Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLIN5-R306Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PLIN5-C255Rhomozygous0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5PTPRS-C1457Rhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRS-P548Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5GALR2-W249Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5OR7G3-S310Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR7G3-A237Shifthet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CARD14-R6Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CARD14-R547Shet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CARD14-R820Whomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.854 (probably damaging)
0.5TGIF1-P292Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STAT5B-Y683Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.901 (probably damaging), Testable gene in GeneTests
0.5YLPM1-P254Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5YLPM1-P636Ahet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC16A11-P443Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5SLC16A11-G340Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC16A11-V113Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5MFSD6L-I339Thet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MFSD6L-L85Ihet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5MYH1-R1272Whet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5MYH2-F624Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.934 (probably damaging), Testable gene in GeneTests
0.5TMEM149-P127Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5PRODH2-P91Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5FANCA-G809Dhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TLE2-S705Nhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5TLE2-A296Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIF1C-Q42Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5KIRREL2-E567Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5KIRREL2-K591Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZBTB32-R56Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5TRPV2-W494Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5KRT14-C63Yhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP4F22-A194Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PGLYRP2-R476Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PGLYRP2-M270Khomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.2 (possibly damaging)
0.5PGLYRP2-R99Qhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PGLYRP2-T46Ahomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-N461Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DHX58-Q425Rhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLE1-L295Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5NLE1-R169Khomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5JAK3-H529Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests
0.5RAI1-G90Ahet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FBXW10-R607Chet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FBXW10-T982Ahomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBXW10-V1017Ahomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LSR-R519RRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LSR-E645Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5TMEM59L-D338Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SACS-N232Khet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC8A3-G577Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5LAX1-R64Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.895 (probably damaging)
0.5FAM71A-T11Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAM71A-N551Dhet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM71A-T577Mhet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USH2A-A4987Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-E3411Ahet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-L555Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5USH2A-A125Thet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPRS-Y419Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5EPRS-D308Ehomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CACNA1S-L458Hhet unknownUnknown
benign
Low clinical importance,
likely
Common polymorphism
0.5CACNA1S-R41Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-L2647Ihet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-S2562Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-E385Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5DPT-P140Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5MYOC-R76Khet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5TNN-R79Ghet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNN-R440Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5TNN-W807Rhet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.104 (benign)
0.5TNN-P930Lhet unknown0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5HMCN1-T1056Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-I2418Thet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5LAMC2-S587Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5LAMC2-L679Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMC2-S733Thet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5AGT-T207Mhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1006Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-N1979Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-T1996Shet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RBP4-G52Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CC2D2B-Q322Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ZFYVE27-V82Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE27-G138Vhomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARHGAP19-Q305Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ARMC4-R787Chet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ARMC4-R666Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5PTF1A-S263Phomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5SCCPDH-G418Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.943 (probably damaging)
0.5PRKCQ-K555Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5PRKCQ-P330Lhet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CUBN-E2968Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1971Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-G1840Shet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEBL-N654Khet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.536 (possibly damaging)
0.5NEBL-D378Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5NEBL-M351Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ST8SIA6-P354Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DCAF6-V256Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5FCRLB-T32Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FCN3-L117Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAP7D1-R201Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHA10-R807Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5EPHA10-L629Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPHA10-R618Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NSUN4-S140Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5SYTL1-G365Dhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SYTL1-Q444Rhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPG2-S4331Nhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-V3640Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-H3256Yhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR157-A223Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.857 (probably damaging)
0.5MTOR-R1538Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5IGSF21-P434Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-S545Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5CROCC-R1512Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CC2D1B-R543Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ACOT11-R20Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.938 (probably damaging)
0.5KPRP-Q14Hhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5KPRP-C230Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SHC1-R369Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNJ10-R18Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.5CRP-T59Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PDE4DIP-R2052Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PDE4DIP-D1910Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-R1867Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PDE4DIP-A1757Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PDE4DIP-A1742Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.728 (possibly damaging)
0.5PDE4DIP-V1736Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5PDE4DIP-L1727Phet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-Q1665Shifthet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PDE4DIP-R1504Qhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-K1454Ehet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.931 (probably damaging)
0.5PDE4DIP-W1396Rhet unknown0.667Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-K1359Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5PDE4DIP-L1272Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5PDE4DIP-S1205Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE4DIP-A1066Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.123 (benign)
0.5PDE4DIP-F1013Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-C708Rhomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PDE4DIP-R681Hhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5PDE4DIP-R622*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Nonsense mutation
0.5PDE4DIP-W560*het unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Nonsense mutation
0.5PDE4DIP-S536Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.914 (probably damaging)
0.5PDE4DIP-A487Shifthet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PDE4DIP-H482Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-E410Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PDE4DIP-S275Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.419 (possibly damaging)
0.5PDE4DIP-R25Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5AMPD1-K287Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5ALG6-S304Fhomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNNI3K-I787Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5AGL-G1115Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VAV3-T298Shet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5VAV3-W25Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-R523Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-T4Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPYSL4-P309Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CHPT1-F341Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ACADS-G209Shomozygous0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5ATP6V0A2-N850Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRI3BP-P122Shifthet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYO1A-P426Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging), Testable gene in GeneTests
0.5NCKAP1L-N884Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNB3-R128Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5KRT81-R316Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5KRT81-L248Rhomozygous0.935Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT75-S485Rhet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT75-M427Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KRT75-A161Thet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KRT75-R91Ghet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT83-H493Yhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-R149Chet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF84-K550Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5BRCA2-N289Hhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-N991Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-V878Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PTGDR-R332Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.905 (probably damaging)
0.5SYT16-A6Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5SYT16-V10Ahet unknown0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYT16-R131Lhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFYVE26-N1891Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-T898Shet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-R1393Whet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEP1-S1195Phomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR11G2-I99Nhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.635 (possibly damaging)
0.5OR11G2-V116Ihet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OR11G2-G230Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYCBP2-Y1009Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCC4-G187Whet unknown0.070Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NALCN-R1654Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5NALCN-H769Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.486 (possibly damaging)
0.5FAM70B-V183Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CACNA1C-S723Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.426 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5UEVLD-E448Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ANO5-N52Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.955 (probably damaging), Testable gene in GeneTests
0.5ANO5-L322Fhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5EHF-A96Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5OR5B2-M200Thet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5OR5B2-L46Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.885 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V103Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIM22-D155Nhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5TRIM22-R242Thet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRIM22-R321Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5OR51D1-F75Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging)
0.5OR51D1-Q183Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OR51D1-I269Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5H19-G355Rhomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM5-R360Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TRPM5-V254Ahomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPM5-N235Shet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHRNA10-E355Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CHRNA10-G347Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.098 (benign)
0.5OR52I1-T41Ihomozygous0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR52I1-A265Vhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR52I1-L284Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5C11orf40-C200Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C11orf40-K96Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C11orf40-W32*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MS4A5-G51Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FDXACB1-I87Nhomozygous0.928Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FDXACB1-R4Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5SORL1-Q1074Ehomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SORL1-R1286Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SORL1-V1967Ihomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SORL1-A2173Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5OR8D4-R122Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5OR8D4-R133Khet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR8D4-F200Lhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.093 (benign)
0.5OR8D4-L283Phomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR8D4-R298Khet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNJ1-T86Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.361 (possibly damaging), Testable gene in GeneTests
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPAT-G1015Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NPAT-N999Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NPAT-V575Ihet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-G5242Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTTN-E370Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DYNC2H1-K1413Rhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-V3633Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-A3687Vhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UVRAG-I244Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A1BG-P207Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A1BG-H52Rhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDX60L-M1646Vhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDX60L-N1488Dhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDX60L-R1387Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX60L-E1222Dhomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDX60L-Y959Chomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDX60L-Y917Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5DDX60L-C831Rhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDX60L-V754Ahet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5DDX60L-V409Lhomozygous0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5DDX60L-C336Yhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PKHD1-Q4048Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R182Hhet unknown0.038Unknown
benign
Low clinical importance,
likely
Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.
0.5ASCC3-S1995Chomozygous0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASCC3-G1688Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5REV3L-R1970Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5REV3L-T1224Ihomozygous0.532Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5REV3L-Y1156Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICAL1-E937Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MICAL1-A758Ehomozygous0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICAL1-G220Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5MICAL1-A12Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRPF3-E1075Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5SLC26A8-V734Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SLC26A8-I639Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5SLC26A8-V73Mhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNXB-P3526Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-K3015Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2433Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G1850Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTNL2-S360Ghomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-K196Ehomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D118Nhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5BTNL2-L109Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5HLA-DQA1-A11Thet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCUBE3-Q317Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5HLA-DQB1-Q253Hhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TAAR1-A152Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5BCLAF1-L461Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.5BCLAF1-Y459Dhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARK2-V380Lhomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknownUnknown
benign
Low clinical importance,
likely
Benign, common variant.
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA13-P451Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA13-F1485Lhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA13-E2062Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCA13-A2123Ehomozygous0.819Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA13-K2251Thet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA13-R2619Whomozygous0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA13-P3518Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCA13-Y3796Fhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA13-N4222Dhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA13-Q4247Rhet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA13-K4391Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INHBA-G334Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IGF2R-R1335Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IGF2R-R1619Ghomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGF2R-N2020Shet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CITED2-H38Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLEKHG1-D668Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R843Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH3-Q521Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5RSPH3-G518Dhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RSPH3-R461Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RSPH3-M439Thet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5RSPH3-R213Qhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5RSPH3-N201Shet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.89 (probably damaging)
0.5SERAC1-F47Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5OR10C1-Q55*het unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5OR10C1-F60Lhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5OR10C1-R89Shet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.714 (possibly damaging)
0.5OR10C1-R121Chet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5OR10C1-R138Whet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5OR10C1-P160Shet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10C1-M246Vhomozygous0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OR10C1-M310Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A4-I306Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SLC22A5-L202Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.898 (probably damaging), Testable gene in GeneTests
0.5HNRNPA0-G187Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5ADRB2-G16Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LNPEP-V359Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5KLKB1-D379Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5F2R-S412Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5GPR98-L1093Fhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-V1951Ihet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-P1987Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests
0.5GPR98-Y2232Chet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests
0.5GPR98-N2345Shet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5GPR98-N2584Shet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-E3867Khomozygous0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-V5876Ihomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests
0.5ERAP2-K392Nhet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-L669Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PCSK1-S690Thet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCOF1-K1297Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A1352Vhomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT2-P4117Lhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P1164Lhomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FAT2-G1004Shomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F686Shomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R574Chomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.967 (probably damaging)
0.5FAT2-V444Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ADAMTS2-P1177Shomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ADAMTS2-R827Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.876 (probably damaging)
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DSP-M1Shifthet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5DSP-R1738Qhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests
0.5DSP-M2819Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.054 (benign), Testable gene in GeneTests
0.5HMGN4-D88Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5NHLRC1-P111Lhomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
0.5COL23A1-T287Ahomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5COL23A1-R267Whet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5N4BP3-R317Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MFAP3-M173Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.934 (probably damaging)
0.5ODZ2-D410Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.863 (probably damaging)
0.5KCNMB1-V110Lhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNMB1-E65Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5APLF-I100Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-S224Thet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-Q433Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EIF4E1B-R147Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5CCT6A-Y229Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CCL24-S31Fhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.895 (probably damaging)
0.5CCL24-I29Lhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.073 (benign)
0.5AGPAT2-G75Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5FAM166A-P84Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CSF2RA-R164Qhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging), Testable gene in GeneTests
0.5ARSF-P115Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH1-V2285Ihet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SETX-I1386Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDK5RAP2-L571Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OR1J2-I105Shifthet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TTC16-Y809Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5NUP188-V262Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5FPGS-R466Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SHROOM2-G1285Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5SHROOM2-L1607Fhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5WWC3-R949Chet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RAB40A-H45Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5SPANXN2-N24Shifthet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCD1-D361Ehet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5GDI1-S24Fhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5HCFC1-S1164Phet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HCFC1-V854Shifthet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BEX4-P120Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5TRMT2B-Q297Hhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2155Whet unknown0.022Unknown
benign
Low clinical importance,
likely
Probably benign.
0.5RPGR-V1144Ihet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGR-VEGE1025Delhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FGD1-L177Phet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TBX22-E187Khet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-N796Khet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-V783Ahet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-P562Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-A440Thomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IKBKAP-I830Mhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RP1-N985Yhomozygous0.206Unknown
benign
Low clinical importance,
uncertain
Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.5RP1-C2033Yhomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBN-E185Qhomozygous0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MATN2-K356Ehet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MATN2-V932Ihet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5TMEM67-D251Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM67-I594Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HR-Q528Rhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HR-C397Yhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5HR-G337Dhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEMA3C-V337Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOS3-D298Ehomozygous0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CNTNAP2-E713Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5LRP12-D839Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5TMEM71-Y72Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MELK-K26Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.853 (probably damaging)
0.5IGFBPL1-R234Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5APBA1-Q394Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ABCA1-A2028Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-K1587Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhomozygous0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INVS-G801Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1045-S353Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIF24-W218Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIF24-M140Vhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5ZC3H3-S880Khet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZC3H3-R578Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZC3H3-S452Ghomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZC3H3-R168Whet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.858 (probably damaging)
0.5ZC3H3-E151Dhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZC3H3-F149Yhet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RECQL4-R1005Qhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RECQL4-R522Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RECQL4-E267Dhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLANA-Y47Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5NFX1-P1087Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GLDC-M107Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR4-P136Lhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhet unknown0.301Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.481 (possibly damaging)
0.5IFT80-S357Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLNB-D1157Nhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-V1471Mhomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5DLGAP4-R10Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5DEFB128-H62Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB128-K27Nhomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITIH3-T340Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5QARS-N285Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SCN5A-H558Rhet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ULK4-V1126Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ULK4-S640Ahomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-A542Thomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-I224Vhomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-K39Rhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5GTSF1L-L56Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5COL7A1-P595Lhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF717-E901Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-RC843SYhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-P841Hhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-K840*het unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Nonsense mutation
0.5ZNF717-H832Qhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-R820Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-T799Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.208 (possibly damaging)
0.5ZNF717-K798Rhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-D797Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF717-Y786Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.793 (possibly damaging)
0.5ZNF717-T779Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-T775Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-S774Nhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-E762Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-Y758Fhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-H752Qhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-C740Shifthet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5ZNF717-Q716Ehet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-P702Shet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-P698Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-N679Khet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-M678Thet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-R674Hhet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-K672Rhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ZNF717-V648Ihet unknown0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-H581Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF717-H573Yhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-E539Khet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-A530Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-L468Ihet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-G457Rhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-C453Yhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-T439Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ZNF717-R437Khet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-E430Khet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-E420Qhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-G419Whet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-E358Qhet unknown0.463Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-R350Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF717-R350Chet unknown0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-R349Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF717-F348Vhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-G335Ehet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF717-I327Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-C302Hhet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-L300Ihet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-Y283Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-H273Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF717-T271Shet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ZNF717-G260Rhet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-V255Ghomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-V251Ihet unknown0.510Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-S249*het unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Nonsense mutation
0.5ZNF717-F236Vhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-V233Ghet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-G215Vhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-H192Rhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ZNF717-C183Lhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-M165Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-D161Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-Q114Khet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-P87Lhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-Y64Chomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-A42Vhet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF717-W36Chet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGXT-I340Mhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQCB1-R502Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.754 (possibly damaging), Testable gene in GeneTests
0.5DTX3L-R425Khomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DTX3L-G459Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5ZXDC-P562Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5PLS1-A342Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.944 (probably damaging)
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP40-L842Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5OR5K3-I302Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A3-A3012Phet unknown0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-V1336Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CD80-L197Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5SEMG1-H108Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5PIGT-R178Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ISX-S28Ghet unknown0.810Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-R83Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ISX-T182Mhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5TRIOBP-S217Nhomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhomozygous0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-S826Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-R1231Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5SIM2-T141Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.934 (probably damaging)
0.5SIM2-L483Mhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5KRTAP13-4-W56Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KRTAP13-4-A59Thomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-M840Thet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-D1751Hhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-T539Ihomozygous0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-T879Ahomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-R1163Chomozygous0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5PCNT-I1639Vhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-Q2659Hhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-T275Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GNB1L-W239Ghet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GNB1L-P210Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC7A4-A349Thet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC7A4-M50Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5SLC7A4-T28Ihet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5LIME1-P211Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CBX6-R173Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LMCD1-G70Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5LMCD1-K290Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.738 (possibly damaging)
0.5TAF4-R1071Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ACOT8-H223Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GLB1-C521Rhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-R109Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARSA-T391Shomozygous0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRIT3-R66Ghet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LRIT3-S130Nhet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5LRIT3-L144Fhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRIT3-M291Lhet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.205 (possibly damaging)
0.5FAM83F-R436Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5CYP2D6-T486Shet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-C296Rhomozygous0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-H94Rhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-L91Mhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-P34Shet unknown0.224Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PNPLA5-T218Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5PNPLA5-T200Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5MLC1-C171Fhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALNT5-D678Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5GALNT5-P892Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PAX8-P269Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK308144-V1042Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK308144-R784Whomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.5AK308144-R643Hhomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK308144-Q524Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5SULT1C3-W36*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5SULT1C3-M194Thet unknown0.558Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SULT1C3-Y202Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CPZ-I486Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPZ-R529Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NMI-T206Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5NOP14-E775Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5NOP14-Q716Rhomozygous0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOP14-L380Shomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5YSK4-R675Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EVC-Q74Phet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-F440Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5AFF3-S699Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AFF3-N519Shet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AFF3-S383Nhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF103-C658Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5HELQ-V306Ihomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HELQ-E45Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5MTTP-I128Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-H297Qhet unknown0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-G661Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CENPE-E1925Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.264 (possibly damaging)
0.5CENPE-H230Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5TET2-P29Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SHROOM3-G59Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5SHROOM3-G278Ahomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SHROOM3-P468Ahomozygous0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AFP-K187Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5KCTD8-K245Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5CNGA1-R32Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-R392Chet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-K1653Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R1928Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCK-P122Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BIN1-N232Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests
0.5OPA1-S158Nhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCF3-R340Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MCF2L2-T902Ahomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MCF2L2-D497Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5PDE11A-S921SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE11A-Y727Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PDE11A-R184Qhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTN-V33179Ahet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P32684Lhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G31701Vhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V30950Ihet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R30394Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I30145Fhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I29476Thet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V28134Mhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26819Thomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25198Vhomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24044Mhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S22871Nhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22599Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R21421Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19839Phomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19782Ihet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18826Ihomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I8474Thet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P7650Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A5710Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S5190Nhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhet unknown0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K3154Rhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G2392Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SKIL-A38Vhet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIL-T468Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EIF4G1-T161Ahomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5EIF4G1-M432Vhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EIF4G1-K1071Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5EIF4G1-T1477Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5FIGN-G325Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5COL3A1-A698Thet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC148-K329Rhet unknown0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC148-F232Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ZNF141-I11Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5NM_207482-E55Dhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_207482-Y281Nhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5NM_207482-I347Thet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_207482-R473Qhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5NM_207482-R658Hhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_207482-P1227Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5NM_207482-T1581Ahomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPT-H14Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-R1999Whomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IRF6-V274Ihet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL6A1-S116Nhet unknown0.056Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL6A1-R850Hhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F8-D1260Ehet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.463Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25FMO2-S195Lhet unknown0.465Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4F2-V433Mhet unknown0.216Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.309 (possibly damaging)
0.25CYP4F2-W12Ghet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SCN1A-A1056Thet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GJB4-E204Ahet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UBA1-R447Hhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SELE-H468Yhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign)
0.25IL28B-K70Rhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOTCH2-N46Shet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests
0.25NOTCH2-E38Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests
0.25MOGS-P293Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25F9-T194Ahet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-A2872Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP2-N83Shet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LEPR-Q223Rhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CFB-R32Whet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-W509Rhet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25KRT5-D197Ehet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-V189Ihet unknown0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCN7-V418Mhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDSN-N527Dhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-N143Shet unknown0.848Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-H-G181*het unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.25ALDH5A1-H180Yhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NSD1-V614Lhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NSD1-S726Phet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR6-S249Phet unknown0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FBN2-M2311Vhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FBN2-V965Ihet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25SERPINA1-E400Dhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HTT-T1720Nhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTT-Y2309Hhet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN2-S248Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-V333Ihet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC2A9-P350Lhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-V282Ihet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.138 (benign), Testable gene in GeneTests
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TH-V112Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25STOX1-Y153Hhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.095 (benign)
0.25STOX1-E608Dhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25GLI3-T183Ahet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP21A2-R103Khet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PON1-Q192Rhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25CYP3A7-R409Thet unknown0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR5-N592Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C7orf29-E202Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C7orf29-W223Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BRIP1-S919Phet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH15-T1125Ahet unknown0.180Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.25ALG8-N222Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FANCE-A502Thet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-V252Ahet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.333Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OPRM1-N40Dhet unknown0.204Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OPRM1-Q402Hhet unknown0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.25ATXN7-V862Mhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTPRJ-Q276Phet unknown0.173Complex/Other
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign)
0.25PTPRJ-R326Qhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25PTPRJ-E872Dhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0H6PD-R453Qhet unknown0.407Recessive
pathogenic
Low clinical importance,
uncertain
This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).
0DYSF-E457Khet unknown0.008Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests with associated GeneReview

Input file format: GFF

Genome build: b36

Genome coverage: 2,729,446,674 bases (96.4% of callable positions, 90.3% of total positions)

Coding region coverage: 31,505,619 bases (96.2% of all genes, 97.1% of genes with clinical testing available)

Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX

Gene search

"GENE" or "GENE A123C":

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