huE9B080 - GET-Evidence variant report

Variant report for huE9B080

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1CBS-I278THighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00288158This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment.1
2MATN3-T303MModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0106698An Iceland study implicated this in causing increased osteoarthritis -- in particular, hand osteoarthritis. Because the variant is rare, the statistical significance of observations is weak. The authors estimate that individuals heterozygous for this variant have a 2.1-fold risk for hand osteoarthritis.1
3MEFV-E148QModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0120929Some reports believe this cause Familial Mediterranean Fever in a recessive manner with reduced penetrance (i.e. not all get the disease). However, these reports lack strong statistical significance; other studies argue the variant is not associated with the disease.1
4BTD-D444HLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0298383This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.1
5MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
6COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
7NOD2-R702WLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0334821NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups.1
8rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
9ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported 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).1
10TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
11TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
12RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
13SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This 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.1
14HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
15H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This 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).1
16TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This 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.1
17ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
18BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
19FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
20KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This 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.1
21DTNBP1-P272SLowUncertainUncertain protective

Recessive, Carrier (Heterozygous)
0.0351366Possibly a slight protective effect against colorectal cancer if homozygous.1
22NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
23CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
24RYR2-G1885ELowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0179176Hypothesized to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S. However, this variant is quite common (2.4% in Europeans), as is G1886S (3.1% in Europeans), and about 1 in 700 are compound heterozygous. This is highly discordant with a disease prevalence of 1 in 2500 to 5000, and notably G1886S is reported in ClinVar as benign. We should consider the original hypothesis disproven.1
25OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
26MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
27FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
28LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
29RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
30VWF-G2705RLowUncertainUncertain benign

Unknown, Heterozygous
0.0460123Probably benign, seems to be considered an uncommon polymorphism.1
31ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
34PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
35PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
36SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31102128 / 33282720 = 93.45%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.3585858585858639376138955553-955753, 957581-957640, 957662-957677, 957691-957693, 957696-957730, 957736-957842, 970657-970677, 970684-970691, 976045-976049, 976067, 976070-976098, 976122-976148, 976172-976260, 976553-976559, 976580-976777, 976862-976891, 976901-976928, 976937, 976946-976976, 976995-976996, 976999, 977058-977082, 977342, 977410-977449, 977458-977513, 977523-977525, 978639, 978648-978697, 978704-978734, 978752-978825, 978918-978956, 978998-979076, 979102-979112, 979203-979258, 979262-979263, 979335-979396, 979489-979494, 979502-979551, 979576-979637, 979714-979720, 979740, 979752, 979780-979783, 979789-979799, 979809, 980543, 980581-980630, 980656-980657, 980739-980760, 980769, 980786-980802, 980833-980873, 980886-980903, 981113-981114, 981123-981138, 981167-981172, 981175-981176, 981230-981256, 981344-981359, 981389-981455, 981540-981575, 981600-981645, 981777-981805, 981814-981850, 981856-981900, 981907-981916, 981923-981951, 981961-981962, 981965-982003, 982009-982050, 982113-982115, 982200-982202, 982209-982305, 982329-982337, 982729-982731, 982735, 982742-982834, 982953-982983, 982991, 982994-983001, 983008-983024, 983035, 983054, 983156-983187, 983219-983265, 983392-983424, 983430-983474, 983480-983482, 983486, 983494, 983497-983514, 983564-983745, 984247-984336, 984362-984401, 984410-984439, 984616-984669, 984681, 984695-984705, 984731-984767, 984775-984777, 984794-984819, 984947, 984950-984951, 984970, 984997-985009, 985026-985027, 985063, 985075, 985080-985081, 985098-985139, 985283-985287, 985309-985321, 985327-985417, 985613, 985622, 985648-985681, 985852, 985868, 985871-985883, 985889-985890, 985896, 985924-985946, 985954, 985961, 986108, 986111-986112, 986116-986124, 986150, 986160, 986172-986215, 986633-986742, 986833-986859, 986866-987025, 987108-987138, 987151-987189, 989162, 989229, 989233-989235, 989241-989255, 989267, 989286-989321, 989831, 989843-989847, 989850, 989900-989902, 990204-990243, 990252, 990287-990317, 990323-990344
2GABRD10.3833701250919883813591950863-1950930, 1956381-1956385, 1956392, 1956395, 1956450-1956476, 1956487, 1956787-1956805, 1956829-1956838, 1956970-1957024, 1957056-1957070, 1957074-1957075, 1957095, 1957122-1957156, 1957165-1957177, 1959016-1959025, 1959048-1959064, 1959069-1959079, 1959594-1959595, 1959614-1959710, 1960550-1960627, 1960658-1960661, 1960687-1960705, 1960990-1961066, 1961075-1961082, 1961130-1961200, 1961422-1961525, 1961550-1961569, 1961653-1961719
3PEX1010.468909276248735219812337217, 2337220-2337253, 2337923-2337980, 2337993-2337999, 2338018-2338058, 2338173-2338185, 2338192, 2338226-2338271, 2339891-2339916, 2339968-2340050, 2340056-2340062, 2340111, 2340135-2340183, 2340196-2340209, 2340212-2340217, 2340224, 2340229, 2340266-2340272, 2341831, 2341860-2341867, 2341872, 2341876, 2341882, 2341888, 2343830-2343941
4NPHP410.9058631160943740342815924507, 5925182-5925227, 5926446, 5926507, 5935060-5935067, 5935071-5935072, 5947468-5947470, 5947480, 5950944-5950952, 5951056-5951067, 6012831-6012834, 6021870, 6021892-6021907, 6027359-6027371, 6027382-6027423, 6029148-6029150, 6029196-6029206, 6029212, 6029215, 6029232, 6029246-6029247, 6029266, 6029288-6029289, 6029294-6029296, 6038330-6038473, 6046215-6046282, 6046331-6046333, 6046338-6046340
5ESPN10.60311890838207101825656485016-6485309, 6488297-6488393, 6488406-6488432, 6488440-6488472, 6500385-6500436, 6500452-6500490, 6500686-6500827, 6500833-6500868, 6501023-6501032, 6501041-6501083, 6501122, 6505732-6505760, 6505821, 6505840-6505863, 6505873, 6505902-6505904, 6505907, 6505925-6505930, 6505941-6505944, 6508706-6508714, 6508744-6508757, 6508800, 6508813, 6508820-6508827, 6508850-6508895, 6508922-6508928, 6509042, 6509047, 6509117-6509125, 6511727-6511737, 6511788, 6511910-6511937, 6512109, 6512117-6512133, 6517316-6517323, 6520063-6520065, 6520198-6520206
6PLEKHG510.7927249921605566131896527970, 6527973-6527978, 6527993, 6528007-6528045, 6528093-6528133, 6528167-6528175, 6528179, 6528248-6528258, 6528294, 6528314-6528331, 6529183-6529185, 6529188, 6529245-6529264, 6529472-6529495, 6529695-6529727, 6530636-6530642, 6530654-6530660, 6530672-6530673, 6530685, 6530693, 6530800-6530802, 6530809, 6530820, 6530851-6530853, 6530860-6530863, 6531086-6531090, 6531095-6531097, 6531106, 6531116-6531117, 6531124-6531127, 6531145-6531151, 6531613-6531618, 6531646-6531666, 6531857, 6532612-6532613, 6532620, 6532625, 6532628-6532644, 6532653, 6532659-6532660, 6533107-6533116, 6533390-6533418, 6534073-6534077, 6534110-6534113, 6534124, 6534128-6534130, 6534135, 6534161-6534181, 6534187-6534216, 6534511-6534539, 6534559-6534594, 6534603-6534612, 6534618-6534621, 6534634-6534636, 6534640-6534642, 6534645, 6535129-6535149, 6535160-6535161, 6535195-6535198, 6535522-6535582, 6536007-6536040, 6537610, 6537653, 6537662, 6556553-6556573, 6556587-6556588, 6556592-6556594, 6556599, 6556605-6556606, 6557380-6557383
7KIF1B10.999811782420481531310316305
8PEX1410.90740740740741105113410535031, 10684403-10684406, 10684440-10684453, 10689635-10689637, 10689644, 10689719-10689750, 10689780-10689784, 10689800, 10689823-10689824, 10689881-10689883, 10689893-10689898, 10689921-10689937, 10690012-10690022, 10690040-10690044
9TARDBP10.9534136546184758124511080587-11080598, 11082339-11082362, 11082584-11082605
10MASP210.76128093158661492206111086988, 11087160, 11090806-11090811, 11090834, 11090884-11090897, 11097750-11097759, 11097771-11097778, 11097812, 11097837, 11097840-11097843, 11102934-11102951, 11102956-11102964, 11102970-11103007, 11103010, 11103013, 11103046, 11103054-11103079, 11103410, 11103414-11103430, 11103440-11103460, 11103497-11103535, 11103542-11103572, 11105475-11105523, 11105581-11105596, 11106627-11106630, 11106653-11106669, 11106688-11106714, 11106758-11106772, 11106787-11106790, 11106952-11106962, 11106965-11106969, 11106982-11106995, 11107004-11107008, 11107047-11107103, 11107129-11107141, 11107260-11107264
11MTHFR10.9781836631151743197111854112, 11854543-11854549, 11854846-11854847, 11854850-11854859, 11854862, 11860343-11860364
12PLOD110.93910256410256133218411994843-11994848, 12014887-12014900, 12023589-12023594, 12023645-12023649, 12023677-12023683, 12024232-12024245, 12024309, 12024320-12024322, 12024720, 12024828-12024838, 12026308-12026341, 12026352-12026356, 12026362, 12030750-12030770, 12030806-12030809
13MFN210.997801231310475227412066747-12066750, 12067158
14CLCNKA10.81443798449612383206416349176-16349185, 16354363, 16355293-16355299, 16355621-16355627, 16355635-16355644, 16355650-16355651, 16355738-16355747, 16355789-16355790, 16356237-16356241, 16356460-16356465, 16356480, 16356485-16356487, 16356522, 16356537-16356543, 16356559, 16356564-16356565, 16356956-16356986, 16356996-16357066, 16357074-16357168, 16358298-16358319, 16358698-16358710, 16358728-16358740, 16358745, 16358749-16358775, 16358938-16358951, 16359003-16359009, 16359702, 16360106-16360118
15CLCNKB10.77325581395349468206416371024-16371044, 16371067, 16372059, 16372069-16372074, 16372080, 16372085, 16372109-16372118, 16373122-16373130, 16374519-16374523, 16375043-16375048, 16375054-16375058, 16375061-16375064, 16376400-16376403, 16377018-16377022, 16377370-16377373, 16377396-16377413, 16377434, 16377448-16377452, 16377469-16377480, 16377485, 16377997-16378033, 16378205-16378206, 16378209-16378212, 16378260-16378261, 16378285-16378291, 16378296-16378302, 16378693-16378723, 16378746-16378803, 16378826-16378868, 16378894, 16378901, 16380182-16380184, 16380217-16380221, 16380228, 16380243, 16380252-16380263, 16381930-16381932, 16381968, 16382013, 16382170-16382181, 16382202-16382209, 16382215-16382224, 16382919-16382949, 16382970-16382999, 16383369-16383405
16ATP13A210.93677674287327224354317312980-17312981, 17313598-17313622, 17313677, 17314942, 17316201, 17318621, 17318624, 17318741-17318754, 17318811-17318817, 17320264-17320279, 17320329-17320330, 17322546-17322549, 17322580-17322618, 17322629, 17322637, 17322749-17322750, 17322795, 17322920-17322937, 17322986-17322991, 17323515-17323524, 17323547-17323565, 17323610-17323629, 17326550-17326568, 17326797-17326806, 17331227-17331229
17ALDH4A110.9704491725768350169219209794-19209834, 19212986-19212988, 19216549-19216552, 19216561, 19228956
18ALPL10.999365079365081157521902383
19HSPG210.957726168791745571317622149809-22149829, 22149911-22149947, 22149972-22149981, 22150109-22150120, 22150629-22150637, 22150825-22150869, 22151064, 22151198-22151200, 22151211-22151227, 22151257-22151262, 22154604-22154615, 22154628-22154630, 22154768-22154801, 22154819, 22155507-22155510, 22156004-22156009, 22156012, 22163416, 22163425-22163431, 22167632-22167642, 22168095, 22168558-22168578, 22172631-22172634, 22175257-22175263, 22175400, 22178145-22178149, 22178322-22178325, 22178670-22178671, 22179521-22179524, 22180822, 22181210, 22181417-22181427, 22183795, 22186060-22186108, 22186137-22186155, 22186333-22186339, 22186408-22186418, 22186687-22186692, 22186705-22186711, 22186714-22186716, 22190691, 22191809, 22192248, 22198711, 22199140-22199151, 22199490-22199547, 22202186, 22206649, 22206867, 22211100-22211104, 22211140-22211144, 22214026-22214027, 22214030, 22263650-22263710
20WNT410.77272727272727240105622446610-22446632, 22448002, 22456122-22456189, 22456217-22456276, 22456285, 22456312, 22456327, 22456332-22456339, 22469339-22469415
21RPL1110.977653631284921253724019238-24019249
22GALE10.999044890162371104724125469
23FUCA110.9586009992862258140124194448-24194465, 24194557, 24194617-24194638, 24194718-24194734
24LDLRAP110.968716289104642992725870210, 25870272, 25893429-25893454, 25893464
25SEPN110.88609112709832190166826126722-26126904, 26139264-26139270
26YARS10.997479521109014158733256852-33256855
27ZMPSTE2410.997899159663873142840737648, 40737652, 40751597
28KCNQ410.85392720306513305208841249769-41249773, 41249789, 41249796-41249815, 41249847-41249857, 41249864-41249890, 41249919-41249930, 41249938-41249977, 41250012-41250076, 41284281, 41284288-41284306, 41285019, 41285076-41285100, 41285120, 41285123, 41285126-41285132, 41288048-41288062, 41288067, 41289820, 41296763-41296769, 41296904, 41296918, 41296959-41296976, 41298761-41298785
29CLDN1910.967407407407412267543201560-43201561, 43201564, 43203960-43203976, 43204201-43204202
30LEPRE110.9895974672094123221143213946-43213958, 43232348, 43232396-43232402, 43232601, 43232614
31UROD10.9846014492753617110445478994-45479005, 45479694-45479698
32POMGNT110.93444276348966130198346660231-46660234, 46660256-46660257, 46660584-46660604, 46661530-46661572, 46662403-46662408, 46662480-46662484, 46663409-46663457
33STIL10.9927592448926828386747748101-47748109, 47755219, 47759140-47759157
34ORC110.998066511987635258652840561-52840563, 52854917, 52854920
35DHCR2410.99935525467441155155319741
36BSND10.99896157840083196355470719
37PCSK910.9812409812409839207955517952, 55521667-55521690, 55521720-55521722, 55521725, 55521735-55521741, 55524268-55524270
38ALG610.996078431372556153063881627, 63894693-63894697
39LEPR10.998856489422534349866067539-66067540, 66074479, 66085664
40CTH10.9844006568144519121870883699, 70895501-70895513, 70896000-70896004
41ACADM10.967918622848241127876198346-76198348, 76200484-76200486, 76200489-76200494, 76205727, 76205757-76205758, 76205761, 76205766, 76216163, 76226811, 76226999-76227016, 76227022, 76228396, 76228447-76228448
42GLMN10.9826330532212931178592755860-92755863, 92762961-92762987
43RPL510.99888143176734189493299200
44ABCA410.999267077103495682294473223, 94476828-94476829, 94490510-94490511
45DPYD10.9961013645224212307897770879, 97848014-97848017, 98187124-98187130
46AGL10.99499891280713234599100357245-100357253, 100357257, 100387148, 100387192-100387203
47DBT10.9993098688750911449100706348
48COL11A110.98643943558732745457103364239-103364290, 103364497-103364498, 103488381-103488383, 103488525-103488526, 103544343-103544357
49GSTM110.55707762557078291657110230496-110230497, 110230503-110230510, 110230516-110230531, 110230831-110230861, 110230867, 110231295-110231297, 110231311, 110231322-110231325, 110231677-110231699, 110231711-110231727, 110231751, 110231876-110231878, 110231937-110231947, 110232896-110232977, 110232987-110232988, 110233077-110233126, 110233135-110233141, 110233155-110233181, 110233185, 110235888
50AMPD110.9959893048128392244115215841, 115217410-115217417
51VANGL110.98857142857143181575116225118, 116226639-116226640, 116226647-116226653, 116228123-116228130
52NOTCH210.978694714131611587416120539665-120539714, 120539739-120539784, 120539913-120539939, 120547962-120547968, 120548048-120548058, 120548091-120548097, 120572547, 120572569-120572575, 120611960, 120612006
53PRPF310.999512670565312052150310728
54FLG10.81749548662399222412186152275190, 152276146-152276152, 152276318-152276355, 152276377, 152276441-152276462, 152276557-152276563, 152276580-152276660, 152276671, 152276696-152276726, 152276758-152276786, 152276851-152276892, 152276904-152276948, 152277098-152277104, 152277165-152277174, 152277254-152277278, 152277333-152277352, 152277396, 152277429-152277454, 152277585-152277591, 152277668-152277674, 152277693-152277720, 152277822, 152277826, 152277884, 152277891, 152277911-152277912, 152278046-152278052, 152278083-152278115, 152278385-152278437, 152278591-152278598, 152278665-152278692, 152278811-152278817, 152278853-152278879, 152279213, 152279249-152279255, 152279333, 152279357-152279409, 152279612-152279658, 152279716-152279746, 152279825-152279851, 152279900-152279903, 152279974, 152280029-152280035, 152280101-152280122, 152280168-152280172, 152280236, 152280265, 152280300-152280306, 152280347, 152280358-152280361, 152280372, 152280378, 152280468-152280474, 152280530-152280562, 152280570-152280600, 152280609-152280630, 152280736, 152280788, 152280900, 152281039, 152281144, 152281225-152281265, 152281308, 152281439-152281445, 152281475-152281511, 152281520-152281537, 152281546-152281580, 152281621-152281628, 152281687-152281708, 152281758-152281786, 152281837-152281844, 152281895-152281914, 152281945-152281994, 152282069-152282105, 152282133, 152282235-152282246, 152282250-152282252, 152282278-152282292, 152282384-152282397, 152282435, 152282739-152282778, 152283021-152283056, 152283088-152283103, 152283170-152283178, 152283190-152283194, 152283236-152283243, 152283264-152283273, 152283276, 152283393-152283434, 152283454-152283470, 152283565-152283571, 152283612, 152283866, 152283969-152283970, 152283974-152283975, 152284067-152284086, 152284140-152284155, 152284174-152284226, 152284241-152284264, 152284302-152284308, 152284329-152284352, 152284374-152284380, 152284407-152284427, 152284475-152284515, 152284607, 152284623, 152284629, 152284770-152284776, 152284814, 152284850-152284883, 152285006-152285008, 152285013-152285015, 152285020, 152285092-152285103, 152285129-152285143, 152285150-152285196, 152285206-152285219, 152285469-152285489, 152285573-152285580, 152285665-152285678, 152285927-152285987, 152286002, 152286008-152286042, 152286122-152286127, 152286140, 152286176-152286213, 152286254-152286280, 152286359-152286381, 152286493-152286511, 152286586-152286603, 152286721-152286723, 152286825-152286843, 152286851, 152286874-152286891, 152286963-152286968, 152287003, 152287073-152287089, 152287173-152287197, 152287853-152287880
55TPM310.99650349650353858154163662-154163664
56CHRNB210.98409542743539241509154543988-154543989, 154544053-154544059, 154544314-154544318, 154544400-154544406, 154544563-154544564, 154548361
57GBA10.97577276524645291197155184364-155184384, 155184413-155184419, 155186655
58GBA10.98572315332092231611155204991-155204997, 155207994-155208009
59PKLR10.99246376811594131725155269990-155270002
60SEMA4A10.9986876640419932286156131146-156131148
61NTRK110.98745294855709302391156830727-156830732, 156830749-156830760, 156830764-156830767, 156843465-156843468, 156843472-156843475
62NDUFS210.9964080459770151392161179660, 161183961-161183964
63MPZ10.994851994851994777161279682-161279684, 161279687
64FMO310.9993746091307111599171073092
65MYOC10.998679867986821515171605249-171605250
66DARS210.99432404540764111938173807387-173807397
67LHX410.9982949701619821173180199674, 180199678
68HMCN110.996096522356286616908185892597-185892616, 185892740-185892744, 185897742, 185897748, 185969294, 185972951-185972958, 185976311-185976312, 185976379-185976385, 185984455-185984456, 185987441, 186010227-186010234, 186056630, 186062682-186062689, 186062745
69CFH10.9986471861471953696196659338, 196682984-196682986, 196682993
70CFHR110.998992950654581993196797259
71CFHR510.9970760233918151710196967364-196967367, 196971664
72ASPM10.9852405597086415410434197057411-197057412, 197069729, 197070413-197070417, 197070607, 197070975-197070976, 197071333-197071340, 197071535, 197071668-197071674, 197071738, 197071741-197071763, 197071930-197071932, 197071938-197071945, 197071950-197071951, 197072050-197072071, 197072420, 197072432-197072434, 197072546-197072549, 197072822, 197073173, 197073384-197073390, 197073922, 197073971-197073975, 197074219-197074225, 197074236-197074247, 197074251-197074262, 197087055-197087061, 197093390-197093392, 197094227-197094230
73PKP110.98670334708849292181201294211-201294239
74TNNT210.9774774774774820888201338944-201338963
75REN10.99836199836221221204135413-204135414
76USH2A10.995323210968037315609215848074-215848075, 215848083-215848084, 215916520-215916555, 215916669, 215990470-215990471, 216017727, 216251471-216251486, 216348711, 216348724, 216371913-216371918, 216371925, 216496876-216496878, 216496881
77PSEN210.95991091314031541347227071408-227071415, 227071443-227071447, 227071505-227071509, 227071525-227071535, 227071578-227071579, 227071582-227071604
78ADCK310.933641975308641291944227152701-227152702, 227152889-227152935, 227153058, 227153081-227153110, 227153418-227153423, 227153426, 227153432, 227169749-227169755, 227169791-227169796, 227169833-227169835, 227170632-227170645, 227171317-227171318, 227171322, 227171796, 227171891, 227172345-227172347, 227172969-227172971
79GJC210.481818181818186841320228345460-228345461, 228345526-228345527, 228345573-228345577, 228345622-228345629, 228345648-228345686, 228345724, 228345768-228345769, 228345784-228345788, 228345803-228345806, 228345817-228345825, 228345828, 228345831, 228345843-228345951, 228345978-228345982, 228346008-228346012, 228346019-228346044, 228346054, 228346074-228346077, 228346095-228346106, 228346151-228346153, 228346169, 228346188-228346248, 228346256-228346305, 228346315-228346502, 228346528-228346574, 228346587-228346621, 228346628, 228346673, 228346676, 228346711-228346765
80ACTA110.98412698412698181134229567307, 229567913, 229567917-229567924, 229568319-229568326
81LYST10.9824653691039820011406235826256-235826274, 235840812-235840815, 235860396, 235875495-235875497, 235897930, 235904751-235904753, 235907279-235907297, 235907421-235907437, 235916376-235916381, 235937148-235937165, 235937259-235937263, 235944204, 235944246-235944252, 235944265, 235950517-235950530, 235956831-235956836, 235966359-235966364, 235967934-235967938, 235967941-235967943, 235972266-235972276, 235972504-235972517, 235972559-235972586, 235973248-235973250, 235973323-235973327
82ACTN210.9996275605214212685236850097
83MTR10.9997367035281713798236988684
84RYR210.995571658615146614904237791272, 237813310-237813313, 237821244-237821302, 237821321-237821322
85NLRP310.9958212793314133111247582238-247582250
86GATA3100.99925093632959113358100728
87PHYH100.997050147492633101713330439-13330441
88DCLRE1C100.9985569985573207914970015-14970017
89CUBN100.99862030905077151087217142059-17142060, 17142083-17142095
90PTF1A100.8652482269503513398723481516-23481519, 23481648-23481650, 23481695-23481696, 23481702-23481705, 23481707-23481775, 23481779, 23481851-23481852, 23481858-23481866, 23481925-23481955, 23481976, 23482114-23482120
91MYO3A100.9962894248608518485126359122-26359138, 26417434
92PDSS1100.998397435897442124827035322, 27035400
93MASTL100.996587030716729263727459003, 27459110-27459116, 27459686
94RET100.9372197309417210334543572707-43572762, 43572766-43572773, 43595917, 43595995-43596016, 43596081, 43596119-43596120, 43597835, 43597888-43597903, 43598042-43598059, 43600544-43600546, 43601824-43601826, 43601834, 43604542-43604550, 43606742, 43606851, 43606854-43606855, 43606908, 43606912-43606913, 43607585-43607591, 43609099, 43609982-43610012, 43610134-43610137, 43610167-43610168, 43612174-43612179, 43615162-43615166, 43615176, 43619186-43619187, 43619228-43619230
95ERCC6100.9892904953145948448250738847, 50738857, 50740809-50740844, 50740926-50740935
96CHAT100.9915442812639119224750822251, 50822259-50822261, 50822453-50822463, 50835778-50835781
97PCDH15100.9943963321446833588955587166-55587174, 55663028-55663029, 55663082-55663103
98EGR2100.9818308874912626143164573467-64573492
99NODAL100.97796934865923104472201237-72201245, 72201298-72201304, 72201396-72201402
100PRF1100.998201438848923166872358279-72358281
101SLC29A3100.9908963585434213142873082576-73082578, 73082582, 73082706-73082710, 73115950, 73115976-73115978
102CDH23100.980310262529831981005673206128-73206134, 73377057-73377061, 73439207-73439209, 73442239-73442245, 73442258, 73447436-73447442, 73447445-73447476, 73455253, 73455268, 73462334-73462383, 73462443, 73464690, 73464721-73464727, 73464769-73464771, 73464774, 73464806, 73464809-73464812, 73464822-73464827, 73464875-73464887, 73468932, 73472454, 73490278, 73501470, 73501520-73501522, 73537490-73537524, 73571092, 73571746, 73573105, 73574709-73574710
103MAT1A100.999158249158251118882045335
104LDB3100.90888278388278199218488428449-88428488, 88439901-88439906, 88441435-88441444, 88441499-88441519, 88466456-88466469, 88469678, 88476084-88476086, 88476119-88476129, 88476161, 88476176, 88476181, 88476187, 88476203-88476226, 88476233, 88476237-88476238, 88476248, 88476256-88476259, 88476272-88476276, 88476342-88476352, 88476415-88476418, 88476422-88476425, 88476428, 88476468-88476471, 88476501-88476528
105BMPR1A100.996247654784246159988672066-88672070, 88683146
106GLUD1100.9743589743589743167788854082-88854083, 88854376, 88854417-88854456
107PTEN100.9909240924092411121289624243-89624253
108LIPA100.9866666666666716120090974606-90974610, 90974805-90974815
109ANKRD1100.99270833333333796092678909-92678915
110LGI1100.996415770609326167495517959-95517962, 95537364-95537365
111PLCE1100.99768418005516690996068389, 96076312, 96076317, 96076368-96076379, 96076415
112ZFYVE27100.9862459546925617123699509273-99509280, 99517399-99517407
113HPS1100.96723646723647692106100177364-100177414, 100177950, 100185426-100185442
114PAX2100.9961508852963851299102568919-102568923
115C10orf2100.99318734793187142055102750237-102750246, 102750732-102750735
116FBXW4100.9975786924939531239103454285-103454287
117HPS6100.99441580756014132328103825387, 103825448, 103825451, 103825686-103825689, 103826512, 103826578-103826582
118SUFU100.9938144329896991455104264081-104264086, 104309852, 104309856, 104353456
119CYP17A1100.98362802881467251527104590656-104590663, 104592422-104592437, 104593809
120COL17A1100.99154428126391384494105812848, 105816788, 105816822, 105816887-105816921
121SHOC2100.9994282447112611749112724239
122HABP2100.998127340823971534115334090
123HABP2100.998217468805731683115334090, 115341819, 115341854
124EMX2100.990777338603437759119302787-119302788, 119305251-119305255
125BAG3100.99247685185185131728121411350-121411362
126HTRA1100.866943866943871921443124221194-124221238, 124221291-124221297, 124221311-124221318, 124221323-124221344, 124221352-124221391, 124221396-124221397, 124221422-124221449, 124221477-124221478, 124221493, 124221504-124221511, 124221603-124221629, 124271549, 124271554
127HRAS110.47368421052632300570532671-532677, 532695-532723, 532738-532749, 533470-533499, 533528-533570, 533577-533604, 533766-533839, 533850-533890, 533939-533944, 534215-534231, 534259-534265, 534294-534298, 534302
128TALDO1110.816568047337281861014747482-747506, 747548, 747556, 758950-758954, 759018-759024, 763344-763433, 763457-763479, 763747-763769, 763795, 763876-763877, 763881, 763894, 763897-763898, 764347, 764350, 764414, 764813
129SLC25A22110.3179012345679663972791931-791953, 791968-791995, 792027-792054, 792067-792068, 792142-792154, 792174, 792181, 792192-792217, 792318-792358, 792382-792423, 792431-792458, 792553-792727, 792870-792948, 792960-792967, 793529-793531, 793538-793574, 793613-793614, 794489-794513, 794776-794790, 794796-794797, 794820-794857, 794874-794901, 794989-795006
130PNPLA2110.767656765676573521515819719-819810, 819831-819837, 819857, 819863-819905, 821714, 821731-821738, 822009-822010, 822015-822017, 822485-822488, 823527-823545, 823725-823747, 823787-823790, 823806-823815, 823823-823833, 823854-823855, 824001-824007, 824055, 824060, 824069, 824113-824130, 824335, 824338, 824373-824410, 824424-824436, 824523-824524, 824667, 824672-824683, 824722-824729, 824736, 824789, 824794-824798, 824815, 824823-824825, 824836-824842
131CTSD110.3841807909604576312391774733-1774740, 1774746-1774781, 1774845-1774870, 1774883-1774900, 1775033, 1775055-1775067, 1775100-1775119, 1775224-1775336, 1775347-1775368, 1776139-1776141, 1776216-1776219, 1778564-1778607, 1778654-1778678, 1778707-1778735, 1778763-1778786, 1780199-1780220, 1780241-1780317, 1780746-1780783, 1780790-1780817, 1780825-1780842, 1780851-1780869, 1782546-1782576, 1782594-1782596, 1782610-1782646, 1782655-1782661, 1782670-1782698, 1785022-1785089
132TNNI2110.349726775956283575491861454-1861468, 1861633-1861674, 1861758-1861877, 1861886, 1862049-1862108, 1862261-1862282, 1862317-1862333, 1862339-1862388, 1862686-1862705, 1862711-1862720
133TNNT3110.155727155727166567771944105, 1944281-1944291, 1944785-1944788, 1944800-1944802, 1946329-1946346, 1947925-1947939, 1950362-1950364, 1951040-1951058, 1953699-1953714, 1953736-1953744, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955779, 1955793-1955835, 1955841-1955885, 1956059-1956110, 1956131-1956149, 1958193-1958233, 1959668-1959687, 1959699-1959722
134H19110.943043884220356110712017160-2017161, 2017536, 2017539, 2017544-2017552, 2017623-2017626, 2017635, 2017755, 2017764, 2017829, 2017983, 2017996, 2018014-2018015, 2018018, 2018086-2018088, 2018274, 2018278, 2018324-2018336, 2018358-2018374
135IGF2110.191279887482425757112154217-2154281, 2154293-2154451, 2154769-2154772, 2154775-2154777, 2154779, 2154792-2154818, 2154825-2154829, 2154839-2154895, 2156603, 2156616-2156626, 2156644-2156650, 2156659-2156759, 2161365-2161396, 2161404-2161505
136TH110.13650793650794136015752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189329, 2189337-2189356, 2189368-2189409, 2189721-2189755, 2189769-2189830, 2189841-2189864, 2189886-2189895, 2190880-2190884, 2190904-2190921, 2190941-2190952, 2190956-2190977, 2190994-2191036, 2191063-2191101, 2191920-2191967, 2191973, 2191981-2191984, 2191997-2192000, 2192952, 2192967-2193009
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223CEP290120.96599462365591253744088443081, 88443084-88443096, 88462328-88462335, 88462371-88462389, 88472968, 88476808-88476846, 88478397-88478404, 88478582-88478593, 88481631, 88487662, 88490730-88490746, 88496651-88496655, 88504996, 88519023-88519040, 88520093-88520116, 88520198-88520200, 88522723-88522745, 88523479-88523480, 88523531-88523547, 88533340-88533341, 88534738-88534760, 88535057-88535071
224TMPO120.9755395683453251208598921700-98921719, 98925593-98925616, 98926650, 98926654, 98927532, 98927535, 98927538-98927540
225UNG120.995753715498944942109547663, 109547772-109547774
226MMAB120.992031872509966753109999273-109999278
227TRPV4120.96750764525994852616110221453-110221454, 110221486-110221488, 110230590-110230601, 110234358-110234364, 110236576, 110238424-110238427, 110238501-110238519, 110240810-110240815, 110246224-110246228, 110252219, 110252223-110252231, 110252537-110252552
228ATP2A2120.9990412272291533129110783171-110783173
229ATXN2120.910451547437853533942112036602-112036642, 112036662, 112036669, 112036682, 112036690-112036729, 112036739-112036772, 112036794, 112036797, 112036800-112036818, 112036862-112036874, 112036894-112036929, 112036948-112036960, 112036976, 112036980-112037050, 112037099-112037121, 112037143-112037149, 112037209-112037230, 112037273-112037292, 112037311-112037318
230SDS120.998986828774061987113836536
231ACADS120.9911218724778111239121175712-121175715, 121177238-121177244
232HNF1A120.938818565400841161896121416709, 121416712-121416713, 121434357-121434361, 121434364, 121434369-121434370, 121434515, 121434526-121434527, 121435308-121435333, 121435384-121435390, 121435454, 121437287, 121437304-121437334, 121438896-121438931
233HPD120.95600676818951521182122286951-122286965, 122287593-122287617, 122294296-122294299, 122294513, 122295300-122295306
234EIF2B1120.998910675381261918124106326
235ATP6V0A2120.99066511085181242571124197113-124197135, 124209293
236PUS1120.783489096573212781284132414276-132414338, 132414452-132414467, 132414477-132414479, 132414505-132414535, 132414580-132414596, 132414607-132414640, 132416720-132416741, 132416799, 132423754, 132423757-132423770, 132423802-132423820, 132425839-132425840, 132425891, 132425943-132425950, 132425982, 132426009-132426010, 132426019, 132426028-132426049, 132426088, 132426095-132426096, 132426172-132426174, 132426178, 132426192, 132426344, 132426349, 132426409-132426411, 132426472, 132426492-132426496, 132426524
237SACS130.99767103347889321374023907676-23907679, 23908436-23908441, 23910484, 23913019-23913025, 23913141, 23913388, 23913450, 23913510-23913513, 23915017-23915018, 23915093-23915095, 23929897-23929898
238B3GALTL130.995323981295937149731774228-31774234
239BRCA2130.978356244515942221025732893214, 32903598-32903629, 32907136-32907145, 32910522-32910529, 32910532, 32910633, 32910639-32910641, 32911119, 32911185-32911187, 32911593-32911598, 32911838-32911839, 32912052, 32912096, 32912322-32912346, 32912362-32912383, 32912428-32912440, 32912468-32912471, 32912519-32912535, 32912697-32912705, 32912767-32912780, 32914058-32914059, 32914206-32914208, 32914938-32914941, 32918720-32918726, 32918730, 32918734-32918742, 32920964-32920975, 32929422, 32930566-32930574
240SLC25A15130.99668874172185390641381530-41381532
241TNFSF11130.98742138364781295443148460-43148471
242SUCLA2130.9820402298850625139248528296, 48571062-48571085
243RB1130.9949766774309314278748916813-48916819, 48937049-48937055
244EDNRB130.999247554552291132978475267
245GPC6130.994604316546769166894482635-94482643
246ZIC2130.858661663539712261599100634391, 100634394-100634418, 100634445-100634446, 100634454-100634455, 100634591-100634600, 100635008-100635010, 100637620-100637626, 100637646-100637650, 100637684-100637698, 100637711-100637747, 100637787-100637893, 100637925-100637936
247PCCA130.98536808413352322187101101515-101101546
248ERCC5130.9992922859164934239103468852-103468854
249COL4A1130.99001996007984505010110863994-110863995, 110866166-110866168, 110959315-110959333, 110959336-110959361
250F7130.1415730337078711461335113760156-113760219, 113765004-113765084, 113765100-113765101, 113765105-113765145, 113765158, 113768066-113768090, 113768161-113768165, 113768181-113768226, 113768256, 113768265, 113768268-113768274, 113769974-113770114, 113771080-113771110, 113771146-113771189, 113771787-113771836, 113771854-113771892, 113771898-113771910, 113772727-113772806, 113772809, 113772836-113773002, 113773017-113773322
251F10130.855487389229722121467113777202-113777239, 113792771-113792778, 113792781, 113798370-113798373, 113798376-113798378, 113798381, 113798388-113798394, 113801737, 113803232-113803251, 113803284, 113803293-113803303, 113803327-113803335, 113803337, 113803345, 113803418-113803436, 113803567-113803577, 113803601-113803624, 113803627-113803629, 113803659-113803687, 113803705-113803713, 113803751-113803757, 113803805, 113803822-113803824
252GRK1130.771276595744683871692114321717-114321718, 114321780-114321790, 114321853-114321901, 114321919, 114321923-114321937, 114321949, 114321972-114321997, 114322026, 114322043-114322045, 114322091-114322103, 114322106, 114322131-114322181, 114322207-114322222, 114322239-114322273, 114324007-114324027, 114324107-114324113, 114325814-114325844, 114325864-114325922, 114325946-114325964, 114426070-114426089, 114426092, 114434195-114434196, 114436051, 114436055
253TEP1140.9982242516489114788420842681-20842682, 20850127-20850136, 20851774, 20851779
254RPGRIP1140.9994819994822386121775976-21775977
255SLC7A7140.999348958333331153623282126
256MYH6140.999312714776634582023868234-23868236, 23872000
257MYH7140.9958677685950424580823887553-23887560, 23894008-23894018, 23896000-23896004
258NRL140.956582633053223171424550552-24550562, 24550593, 24550596, 24550604-24550605, 24550609-24550615, 24550619-24550623, 24551814-24551816, 24552014
259PCK2140.998959958398342192324572451-24572452
260TGM1140.91483292583537209245424718603, 24723367-24723380, 24723413, 24723445-24723448, 24723912-24723922, 24723938, 24723982-24723989, 24724201, 24724204-24724208, 24724211-24724215, 24724228-24724249, 24724276-24724322, 24724429-24724457, 24727510-24727514, 24727546, 24727579-24727594, 24727790-24727797, 24728281-24728284, 24728454-24728455, 24728946-24728948, 24729256-24729264, 24729684-24729693, 24731442, 24731462
261FOXG1140.87891156462585178147029236662-29236680, 29236686, 29236689-29236706, 29236712-29236713, 29236752-29236755, 29236760-29236832, 29236884-29236888, 29236898-29236900, 29236904-29236905, 29236912-29236962
262CFL2140.974051896207581350135182722-35182734
263NKX2-1140.9776119402985127120636986567-36986572, 36986584, 36986668-36986674, 36986897-36986903, 36988378-36988383
264FANCM140.98129168700179115614745606382-45606385, 45606401-45606403, 45618040-45618052, 45618090, 45618103, 45618107, 45618115-45618131, 45618140, 45618143-45618150, 45618197-45618198, 45620642, 45620675-45620685, 45623173-45623176, 45623940-45623960, 45623987, 45639850, 45644309-45644317, 45644348, 45644357, 45652986, 45667847-45667850, 45668076, 45668084, 45669152-45669158
265C14orf104140.9793158313444752251450092426-50092438, 50092443-50092444, 50100683, 50100694-50100699, 50100751, 50100754, 50100956, 50101083-50101089, 50101232-50101236, 50101621-50101635
266L2HGDH140.9920977011494311139250713785-50713787, 50734471-50734477, 50745249
267ATL1140.9933814681107111166251057664-51057672, 51057675, 51057679
268PYGL140.998427672955974254451379779-51379781, 51390688
269GCH1140.872509960159369675355332104-55332110, 55369090-55369137, 55369222-55369252, 55369263, 55369267-55369269, 55369293-55369298
270SYNE2140.99715305925497592072464447719, 64447765, 64457707-64457710, 64483278, 64488121-64488122, 64488126, 64488129, 64488630-64488643, 64488692, 64489492, 64491175, 64491745, 64494396-64494404, 64497834-64497835, 64497921, 64497930, 64497975, 64547295-64547301, 64580267, 64641662-64641668, 64686039
271ZFYVE26140.99908136482947762068236315-68236317, 68241755-68241758
272PSEN1140.9971509971514140473678618-73678621
273EIF2B2140.9895833333333311105675471498-75471500, 75471537-75471541, 75471588-75471590
274MLH3140.991288399816638436275497251-75497258, 75506653-75506673, 75513781, 75514285-75514288, 75515170-75515172, 75515177
275ESRRB140.9829731499672626152776906070, 76906081, 76957800-76957802, 76957808, 76957915-76957930, 76964690-76964693
276POMT2140.9937860630270814225377786834-77786840, 77786973-77786979
277VIPAR140.997975708502023148277917643-77917644, 77920427
278ATXN3140.9696132596685133108692537333, 92537351-92537354, 92559627-92559654
279AMN140.06093979441997112791362103389026-103389027, 103389029-103389060, 103390048-103390119, 103390135-103390166, 103390277-103390280, 103390298-103390310, 103394763-103394850, 103395095-103395312, 103395458-103395471, 103395477-103395589, 103395765-103395817, 103395824-103395873, 103395992-103396074, 103396266-103396340, 103396350-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
280INF2140.3149333333333325693750105167703-105167733, 105167743-105167745, 105167748-105167752, 105167756, 105167759-105167777, 105167781, 105167803-105167839, 105167849-105167885, 105167919-105167964, 105167982-105168025, 105168033-105168088, 105169462-105169467, 105169470-105169471, 105169481-105169514, 105169535, 105169632-105169656, 105169665-105169698, 105169719-105169726, 105169753-105169791, 105170253-105170286, 105172372-105172414, 105172440-105172513, 105173251-105173279, 105173287-105173325, 105173332-105173388, 105173590-105173837, 105173844-105174252, 105174267-105174339, 105174773-105174836, 105174847, 105174865-105174873, 105174888-105174924, 105175008-105175025, 105175050-105175069, 105175619, 105175625, 105175638-105175647, 105175672-105175682, 105175706-105175720, 105175974-105175978, 105175996, 105176000-105176042, 105176425-105176489, 105176499-105176525, 105177274-105177280, 105177313, 105177319-105177322, 105177325-105177344, 105177425-105177523, 105177998-105178022, 105178770-105178777, 105178790-105178799, 105178802-105178804, 105178808, 105178823-105178837, 105178871-105178877, 105179165-105179329, 105179544-105179557, 105179580-105179646, 105179782-105179842, 105179855-105179903, 105179910-105179943, 105180540-105180550, 105180561, 105180565-105180566, 105180577, 105180611-105180612, 105180636, 105180667, 105180672-105180675, 105180685-105180691, 105180706, 105180709-105180712, 105180715-105180748, 105180775-105180799, 105180881, 105180904-105180906, 105180920-105180921, 105180957, 105180960-105180982, 105180997, 105181002, 105181008-105181009, 105181012-105181024, 105181036, 105181058, 105181073, 105181107-105181111, 105181127-105181165, 105181178-105181193, 105181636-105181646, 105181673
281NIPA1150.7515151515151524699023048837, 23048840-23048842, 23048888-23048896, 23048980-23049017, 23049080-23049086, 23049110-23049119, 23086234-23086411
282UBE3A150.9950532724505313262825616812-25616824
283TRPM1150.998337489609318481231334166-31334173
284SLC12A6150.9968143643208811345334532875-34532877, 34532904-34532909, 34534323, 34546666
285NOP10150.98974358974359219534634237-34634238
286IVD150.9734582357533234128140698035-40698068
287CHST14150.90362511052166109113140763447-40763488, 40763497-40763546, 40763552, 40763572, 40763701-40763704, 40763768, 40763809-40763818
288CDAN1150.997557003257339368443022924, 43028812-43028814, 43028965, 43029272-43029275
289TTBK2150.9970548862115111373543038001-43038006, 43103970, 43103974-43103977
290STRC150.9945570570570629532843896303-43896312, 43900150-43900156, 43900356, 43907745-43907751, 43910440, 43910867-43910869
291STRC150.996410256410267195044007207-44007213
292SPG11150.9869067103109796733244861617-44861621, 44864893-44864897, 44887460-44887471, 44900670-44900673, 44912598-44912601, 44914054-44914061, 44914069-44914070, 44914117-44914132, 44914508-44914521, 44914951, 44918634-44918639, 44918648-44918651, 44943710-44943724
293DUOX2150.9946201850656325464745392418-45392422, 45394174, 45398012, 45399083-45399088, 45403456-45403463, 45403587, 45403683, 45405225, 45405233
294GATM150.994496855345917127245658700-45658703, 45670616-45670617, 45670626
295CEP152150.998992950654585496549076218-49076222
296PPIB150.99692780337942265164455175-64455176
297SPG21150.99568500539374492765257663, 65257666, 65257734, 65275897
298CLN6150.99038461538462993668500487-68500494, 68521856
299NR2E3150.99637681159424110472103142, 72103860-72103862
300HEXA150.9647798742138456159072668107-72668144, 72668274-72668291
301HCN4150.86267995570321496361273614887-73614898, 73616165-73616168, 73616591-73616594, 73659835-73659843, 73659959-73660005, 73660030-73660046, 73660053-73660089, 73660100-73660111, 73660114-73660156, 73660161-73660184, 73660216-73660300, 73660311-73660347, 73660353-73660383, 73660405-73660433, 73660458-73660470, 73660496, 73660506-73660510, 73660526-73660611
302MPI150.999213836477991127275189930
303PSTPIP1150.0575539568345321179125177310489-77310589, 77310798-77310872, 77317625-77317631, 77317641-77317659, 77317839-77317883, 77317888-77317942, 77320193-77320255, 77320895-77320993, 77321870-77321881, 77321902-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
304FAH150.99841269841272126080472467, 80472473
305RPS17150.99754901960784140882823390
306RPS17150.99754901960784140883207733
307FANCI150.9897165788813641398789824459-89824465, 89825031-89825043, 89835967-89835983, 89837206, 89856135-89856137
308POLG150.9879032258064545372089865001-89865007, 89871953-89871960, 89872025-89872026, 89876460, 89876813-89876825, 89876828-89876830, 89876833-89876836, 89876839, 89876849-89876854
309MESP2150.65661641541039410119490319589-90319602, 90319632-90319634, 90319692, 90319717-90319735, 90319756, 90319768-90319776, 90319781, 90319790, 90319824-90319828, 90319854-90319887, 90319902-90319941, 90320009-90320030, 90320057-90320071, 90320098-90320176, 90320182-90320188, 90320203-90320237, 90320253, 90320257-90320261, 90320308-90320319, 90320365-90320397, 90320413-90320451, 90320501, 90321502-90321532, 90321549, 90321561
310BLM150.95392571697226196425491303394-91303396, 91303400-91303413, 91303427-91303459, 91304138, 91304269-91304271, 91337397-91337429, 91337435-91337445, 91337475-91337479, 91337516-91337587, 91341550-91341557, 91347397-91347399, 91347557-91347558, 91347564, 91358405-91358411
311IGF1R150.998050682261218410499192883-99192890
312HBZ160.67365967365967140429202976, 202993, 202997, 203921-203942, 203953-203979, 204014-204028, 204031-204033, 204042, 204061-204063, 204281-204324, 204371-204392
313HBM160.9741784037558711426216339-216349
314HBA2160.983682983682987429222913, 222918, 222963-222965, 223279, 223282
315GNPTG160.805010893246191799181401967-1402013, 1402112-1402127, 1402145-1402160, 1402240-1402257, 1402279, 1402283-1402307, 1411745, 1411911, 1411941, 1412080, 1412211, 1412246-1412271, 1412311-1412315, 1412320, 1412485-1412502, 1413029
316CLCN7160.35938792390405154924181496632-1496662, 1496691-1496706, 1497007-1497087, 1497393-1497495, 1497509-1497521, 1497547, 1497552-1497554, 1497656-1497715, 1498360-1498404, 1498410-1498485, 1498682-1498767, 1498968-1498975, 1498986-1499094, 1499277-1499285, 1499310-1499311, 1499314-1499328, 1500498-1500667, 1501624-1501627, 1501638-1501710, 1502756-1502759, 1502774-1502836, 1502847-1502894, 1503841-1503895, 1504416-1504450, 1504461-1504466, 1505163-1505199, 1505748-1505751, 1505758-1505785, 1505789-1505796, 1506123-1506207, 1507255-1507284, 1507307-1507338, 1507716-1507756, 1509115-1509147, 1509166-1509188, 1510948, 1511406-1511409, 1524847-1524869, 1524876-1524879, 1524896-1524975
317IGFALS160.31004140786749133319321840601-1840618, 1840628-1840679, 1840701-1840703, 1840726, 1840731, 1840761-1840791, 1840819-1840867, 1840876-1840886, 1840893-1840979, 1840986-1841009, 1841019-1841064, 1841099-1841101, 1841105-1841115, 1841127-1841193, 1841226-1841306, 1841345-1841348, 1841374-1841477, 1841488, 1841495, 1841520-1841543, 1841550-1841625, 1841639-1841664, 1841687, 1841690, 1841698-1841703, 1841727-1841796, 1841805-1841837, 1841859, 1841886-1841976, 1841980-1841984, 1841991-1842076, 1842094-1842146, 1842157-1842163, 1842175-1842219, 1842247-1842320, 1842324-1842328, 1842342, 1842360, 1842372-1842463, 1842466-1842467, 1842470-1842474, 1842477, 1842489, 1842502-1842516, 1843638-1843653
318GFER160.260517799352754576182034220-2034477, 2034748-2034751, 2034761-2034794, 2034818-2034895, 2034928, 2035867-2035876, 2035901, 2035904, 2035910-2035940, 2035960, 2035970-2035977, 2035984-2036013
319TSC2160.17975663716814444954242098617-2098682, 2098714-2098754, 2100406-2100430, 2100445-2100446, 2100456-2100481, 2103343-2103348, 2103382-2103453, 2104347, 2104357-2104360, 2104388-2104411, 2104428-2104435, 2105416-2105427, 2105476-2105495, 2106655-2106661, 2106751-2106753, 2108748-2108832, 2108862-2108863, 2110701-2110727, 2110739-2110758, 2110770-2110814, 2111874-2111907, 2111924, 2111927, 2111934, 2111966, 2111971-2111972, 2111986-2111989, 2111992, 2112003, 2112009, 2112500-2112537, 2112546-2112601, 2112973-2113039, 2114288-2114309, 2114334-2114342, 2114352-2114356, 2114368-2114428, 2115524-2115614, 2120469-2120470, 2120480-2120554, 2120568-2120579, 2121511-2121598, 2121617, 2121785-2121816, 2121841-2121935, 2122242-2122364, 2122850-2122922, 2122929-2122984, 2124201-2124390, 2125800-2125809, 2125848-2125893, 2126069-2126072, 2126084-2126140, 2126151-2126171, 2126492-2126500, 2126511-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
320PKD116012912129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
321ABCA3160.71964809384164143451152326693-2326713, 2326781-2326787, 2327598-2327627, 2327635, 2327643-2327649, 2327660, 2327880-2327899, 2327917, 2327937-2327971, 2327994, 2328303-2328310, 2328376-2328395, 2328403, 2328412-2328418, 2328431-2328453, 2328976, 2328979-2328983, 2328986, 2328989-2328990, 2328997, 2329011-2329053, 2329064, 2329100-2329120, 2331055-2331100, 2331126, 2331136-2331167, 2331220-2331222, 2331384-2331403, 2331430-2331437, 2331463-2331474, 2331500-2331510, 2333187-2333249, 2333263, 2333266, 2333330-2333358, 2334280-2334304, 2334323-2334360, 2334372, 2334407-2334420, 2334780-2334812, 2334852-2334858, 2334918-2334951, 2334960-2334999, 2335457-2335470, 2335492-2335530, 2335544, 2335589, 2335597, 2336746-2336747, 2336958, 2338057-2338110, 2338143, 2338189-2338195, 2339439-2339444, 2339451-2339453, 2339484-2339517, 2339529, 2339553, 2339560-2339566, 2339590-2339621, 2342141-2342142, 2342156, 2342163, 2342213-2342236, 2345591-2345632, 2345640-2345669, 2345714, 2345732-2345733, 2347330-2347339, 2347358-2347379, 2347392-2347449, 2347512-2347540, 2347782-2347785, 2347825, 2347859-2347876, 2347887-2347922, 2348387, 2348393, 2348403, 2348415-2348427, 2348470-2348473, 2348476-2348479, 2348491, 2348498-2348499, 2348510-2348537, 2349409-2349432, 2349455-2349464, 2349472-2349476, 2349512-2349533, 2350016-2350017, 2350026, 2350029-2350034, 2350067, 2350092-2350117, 2354049-2354096, 2354134, 2354137, 2354140-2354151, 2358593-2358620, 2367336, 2367758, 2367761-2367765, 2369598-2369602, 2369611, 2369649-2369658, 2369782, 2369788, 2373534, 2373605, 2373665, 2376029
322MEFV160.9087809036658121423463293181-3293189, 3293293-3293297, 3293308-3293331, 3293414-3293424, 3293449-3293474, 3293496, 3293564, 3293574, 3293622-3293639, 3293643-3293645, 3293691, 3293888, 3294484-3294486, 3294493-3294494, 3294534, 3299501-3299506, 3299533, 3304216, 3304222, 3304443-3304448, 3304507-3304523, 3304573, 3304606, 3304651-3304657, 3304661, 3304698-3304699, 3304715, 3306338-3306381, 3306414-3306427, 3306473-3306476
323SLX4160.982379654859229755053632438-3632443, 3632495-3632498, 3632509, 3632529-3632535, 3632568-3632569, 3633109-3633110, 3639828-3639836, 3642757-3642760, 3642809-3642817, 3642861, 3642864-3642865, 3644524-3644525, 3646167-3646178, 3647455-3647456, 3647463-3647465, 3647549-3647555, 3647886-3647909
324CREBBP160.9761222540592217573293777740-3777758, 3777770-3777790, 3778136-3778148, 3778152, 3778284-3778311, 3778397-3778411, 3778418, 3778445-3778457, 3778629-3778631, 3778637-3778639, 3778807, 3778934-3778935, 3778966-3778980, 3779049-3779068, 3779251-3779260, 3779727-3779736
325GLIS2160.077460317460317145315754382293-4382299, 4382305-4382328, 4382336-4382353, 4382383-4382402, 4382417, 4382432-4382453, 4383348-4383507, 4384802-4384978, 4385061-4385127, 4385133-4385194, 4385276-4385364, 4385378-4385394, 4386726-4386848, 4386860-4387525
326ALG1160.8057347670250927113955125496-5125505, 5127927-5127929, 5127932, 5127943-5127944, 5127951-5127963, 5127970, 5128820-5128879, 5129065-5129091, 5129793, 5129798, 5130947-5131001, 5131015-5131056, 5133693, 5134751-5134754, 5134833-5134882
327MYH11160.9897306397306461594015797944-15797953, 15820722, 15820725-15820726, 15829223-15829224, 15829232-15829240, 15833926, 15839000, 15850208-15850227, 15850333-15850347
328ABCC6160.79587765957447921451216244037-16244041, 16248636-16248639, 16248841-16248847, 16253346-16253359, 16253430, 16255299-16255322, 16255334, 16255345-16255394, 16256850-16256891, 16256907, 16256946-16257012, 16257025-16257028, 16259489-16259543, 16259579-16259674, 16259689, 16259708-16259721, 16259751-16259790, 16263517-16263530, 16263539-16263573, 16263604-16263710, 16267147-16267185, 16267188-16267205, 16267207-16267215, 16267246-16267261, 16269768-16269843, 16271313-16271338, 16271363, 16271369, 16271392, 16271395-16271396, 16271445-16271448, 16271452-16271463, 16272662-16272677, 16272745-16272758, 16276274, 16276277-16276286, 16276664-16276673, 16276719-16276752, 16276785-16276787, 16278816-16278837, 16280996, 16282691-16282693, 16282696-16282701, 16291991, 16291994, 16292029-16292039, 16315617
329UMOD160.986999479979225192320360101, 20360273, 20360300-20360321, 20360455
330OTOA160.9956140350877215342021689876, 21696617-21696622, 21747697, 21768592-21768598
331OTOA160.9929718875502799622584732-22584738
332SCNN1G160.998974358974362195023203758, 23203811
333COG7160.9922178988326818231323403704, 23409374-23409382, 23464168-23464175
334PALB2160.999719180005621356123641362
335CLN3160.91723614274867109131728497670, 28497673, 28497679-28497683, 28497703-28497717, 28497751-28497757, 28498780-28498802, 28498983-28499001, 28499059, 28499912-28499932, 28499975-28499983, 28500689-28500695
336TUFM160.9897660818713514136828857286-28857292, 28857417, 28857559, 28857562, 28857569-28857572
337ATP2A1160.9950099800399215300628895964, 28895972, 28895976, 28898521, 28898876-28898882, 28900166, 28900273, 28906224, 28914213
338CD19160.998803111909042167128946785, 28950207
339PHKG2160.9606879606879648122130760142-30760167, 30764802-30764803, 30767949, 30768287-30768301, 30768335, 30768338-30768339, 30768368
340VKORC1160.98780487804878649231104647-31104652
341FUS160.998102466793173158131193968, 31195692, 31195698
342SLC5A2160.9687964338781663201931494509-31494510, 31497194, 31499063, 31499803, 31500008-31500014, 31500016-31500017, 31500046-31500078, 31500260-31500266, 31501768-31501776
343PHKB160.999085923217553328247627467-47627468, 47732435
344NOD2160.9836695485110551312350745056-50745059, 50745471-50745498, 50745530-50745538, 50745875-50745881, 50746174-50746176
345CYLD160.998602375960874286250811772-50811775
346SALL1160.999245283018873397551175656-51175658
347RPGRIP1L160.9929078014184428394853672249-53672261, 53672306-53672308, 53672313-53672322, 53692747-53692748
348SLC12A3160.9725185903653485309356901112, 56912010-56912011, 56913022, 56914141, 56919263-56919266, 56921004, 56921842-56921898, 56921929-56921943, 56926931, 56936398-56936399
349GPR56160.9844961240310132206457684206-57684230, 57693334-57693339, 57695700
350TK2160.982683982683981692466583940-66583953, 66584001-66584002
351HSD11B2160.811986863711229121867465152-67465336, 67465342-67465383, 67465395, 67470903
352LCAT160.71126228269085382132367973807-67973812, 67973816-67973818, 67973847-67973880, 67973891-67973918, 67973930-67973951, 67973954, 67973977-67973980, 67974011, 67974016, 67974021-67974040, 67974058-67974065, 67974097-67974125, 67974195, 67974209, 67974223-67974233, 67976322-67976338, 67976384-67976434, 67976452, 67976468-67976490, 67976623-67976661, 67976769-67976786, 67976854, 67976875-67976879, 67976968, 67976975-67977017, 67977044-67977046, 67977049, 67977069, 67977082-67977083, 67977114-67977115, 67977973, 67977999-67978001
353CDH3160.986345381526134249068719252-68719253, 68721488-68721489, 68721499-68721506, 68721590-68721598, 68721612, 68725783, 68725787-68725796, 68725827
354CDH1160.9954699886749712264968771341-68771342, 68771353-68771362
355CIRH1A160.999029597282872206169188350, 69188353
356COG8160.9755301794453545183969364772-69364800, 69364838-69364841, 69373227-69373238
357AARS160.9697282421740688290770286741, 70287699, 70288603, 70288614, 70291945, 70291956, 70292040-70292055, 70296263-70296269, 70299525, 70301567-70301573, 70301610-70301612, 70301618-70301649, 70302174-70302187, 70302251, 70304179
358HP160.9492219492219562122172092200-72092237, 72093013-72093036
359GCSH160.84482758620698152281116471, 81116491-81116518, 81118144-81118147, 81129736-81129765, 81129817, 81129821-81129830, 81129868-81129874
360MLYCD160.8502024291498222148283932750, 83932779-83932813, 83932823-83932835, 83932855-83932857, 83932875-83932883, 83932886-83932892, 83932924-83932928, 83932938-83932940, 83932954-83932957, 83932963-83933010, 83933078-83933129, 83933149, 83933157-83933161, 83933230-83933252, 83941752-83941753, 83941804-83941811, 83941870, 83945879, 83945900
361LRRC50160.9628099173553781217884183922-84183940, 84193326-84193329, 84193332, 84203470-84203475, 84203720-84203726, 84203730, 84209665-84209667, 84209796, 84209806-84209827, 84209864-84209877, 84211372-84211374
362FOXF1160.9403508771929868114086544192-86544195, 86544212-86544218, 86544221-86544230, 86544384-86544397, 86544704-86544710, 86544831, 86544887-86544896, 86544929-86544939, 86545111-86545114
363FOXC2160.9661354581673351150686601026-86601040, 86601641, 86601659-86601673, 86601727, 86601983-86601993, 86602189-86602193, 86602200, 86602204, 86602299
364JPH3160.75077881619938560224787636868-87636872, 87636910-87636944, 87637112-87637123, 87677972, 87677978, 87677982-87677988, 87678109-87678115, 87678257-87678276, 87678293-87678294, 87678310-87678319, 87678478-87678483, 87678532-87678558, 87678601-87678606, 87717762, 87717773, 87717843-87717865, 87723290-87723315, 87723337, 87723340-87723349, 87723365-87723370, 87723383-87723448, 87723483-87723510, 87723529-87723533, 87723538-87723568, 87723605-87723620, 87723635-87723656, 87723677-87723710, 87723744-87723748, 87723760, 87723762-87723776, 87723824-87723845, 87723889-87723897, 87723904, 87723932-87723942, 87723962-87723972, 87723975-87723979, 87723996-87724035, 87724099-87724125, 87730197, 87730251-87730253
365CYBA160.192176870748347558888709761-88709789, 88709807-88709965, 88709968-88709970, 88712524-88712563, 88712572-88712605, 88713163-88713174, 88713201-88713246, 88713527-88713583, 88714453-88714484, 88714499, 88714513-88714516, 88717364-88717421
366APRT160.1325966850828747154388876106-88876137, 88876144-88876150, 88876158-88876185, 88876192-88876194, 88876206-88876215, 88876221-88876248, 88876478-88876512, 88876518-88876556, 88876833-88876882, 88876888-88876964, 88877958-88878027, 88878044-88878047, 88878057-88878064, 88878228-88878307
367GALNS160.36711281070746993156988880847-88880920, 88880933, 88884415-88884525, 88888997-88889046, 88889063-88889118, 88891175-88891214, 88891223, 88891237-88891277, 88893110-88893174, 88893182-88893246, 88898406-88898407, 88898450-88898460, 88898472, 88898475-88898494, 88898499-88898501, 88901622-88901625, 88901662-88901675, 88901701-88901724, 88901751, 88901755, 88901758-88901759, 88902142-88902144, 88902147-88902162, 88902183, 88902188-88902202, 88902218-88902252, 88902638-88902675, 88904039, 88904042-88904057, 88904062, 88904070, 88904076, 88904080-88904089, 88907419-88907428, 88907436-88907440, 88907443-88907444, 88907463-88907496, 88908322-88908363, 88909114-88909131, 88909179, 88909182-88909204, 88909212, 88909215, 88909227-88909237, 88923166-88923285
368SPG7160.9635678391959887238889574838, 89574893, 89574896-89574899, 89574926-89574932, 89579367-89579368, 89598367-89598372, 89598383, 89598399-89598406, 89613123, 89616935-89616941, 89616987-89617004, 89620328, 89620964, 89623326, 89623422-89623425, 89623464-89623487
369FANCA160.92880036630037311436889805102-89805103, 89805116, 89805332-89805339, 89805342-89805343, 89805608-89805614, 89805693, 89805922-89805923, 89807262-89807271, 89809232, 89809321-89809327, 89811429-89811443, 89811479, 89813297-89813298, 89831341-89831355, 89831458-89831461, 89833582-89833595, 89836365-89836390, 89836612-89836633, 89836642-89836645, 89837010-89837042, 89838099-89838110, 89838140-89838145, 89839692-89839700, 89839704, 89839707-89839710, 89839757-89839761, 89842152-89842182, 89842202-89842223, 89849275-89849278, 89877137, 89877352-89877356, 89882986-89883019
370TUBB3160.48854397634885692135389989810-89989848, 89989857-89989866, 89998979-89998985, 89998995-89998998, 89999009-89999023, 89999030, 89999047-89999070, 89999074-89999076, 89999082-89999087, 89999881-89999884, 89999888, 89999906, 89999912, 89999941-89999950, 89999955, 89999962-89999964, 90001154, 90001160, 90001183-90001184, 90001187, 90001191, 90001220-90001221, 90001249, 90001259-90001284, 90001330-90001371, 90001403-90001441, 90001467, 90001519-90001563, 90001581-90001613, 90001630-90001679, 90001697-90001702, 90001714-90001716, 90001732-90001884, 90001897-90001927, 90001947-90001963, 90001969, 90001991, 90002006-90002007, 90002015-90002036, 90002044, 90002047-90002048, 90002054-90002067, 90002073, 90002079, 90002114-90002146, 90002170-90002198
371PRPF8170.991581050228315970081557210-1557216, 1559697, 1565443-1565445, 1579625-1579636, 1580911-1580912, 1587766-1587776, 1587780, 1587787-1587792, 1587850-1587865
372ASPA170.9904458598726199423392625-3392633
373CTNS170.8287614297589420612033552141-3552152, 3558596, 3559781-3559799, 3559970-3560036, 3560056-3560089, 3561303-3561316, 3561415-3561420, 3563160-3563164, 3563170, 3563179, 3563256-3563269, 3563530-3563554, 3563626, 3564023-3564028
374CHRNE170.8198380566801626714824802080-4802086, 4802306-4802356, 4802493-4802499, 4802592-4802631, 4802678, 4802763-4802775, 4802798-4802813, 4804090-4804093, 4804181-4804202, 4804289, 4804333-4804334, 4804400-4804406, 4804423-4804457, 4804465-4804470, 4804485, 4804830-4804874, 4805335, 4805352, 4805355-4805360, 4805365
375GP1BA170.994270833333331119204837742-4837752
376ENO3170.9992337164751113054859891
377PITPNM3170.9066666666666727329256358658-6358670, 6358681-6358695, 6358727-6358743, 6358771-6358800, 6358829-6358832, 6358920-6358953, 6373580-6373582, 6374481-6374495, 6374500, 6374520-6374562, 6374641-6374654, 6376063-6376075, 6377869, 6377886-6377893, 6377899-6377900, 6377907, 6377922-6377924, 6380441-6380445, 6381373-6381391, 6381875-6381880, 6381900, 6381964-6381966, 6459705-6459726
378ACADVL170.969512195121956019687124094, 7124098, 7124958, 7125271, 7126984-7126995, 7127156-7127183, 7127662-7127668, 7128023-7128030, 7128203
379CHRNB1170.99335989375831015067348648, 7348655-7348658, 7350158-7350160, 7350260-7350261
380MPDU1170.9932795698924757447490527-7490531
381GUCY2D170.9664855072463811133127906367-7906369, 7906379-7906393, 7906479-7906497, 7906515-7906520, 7906592-7906603, 7906639-7906663, 7906826-7906852, 7907330-7907333
382ALOX12B170.981006647673314021067979656-7979658, 7982734, 7982760-7982767, 7983159-7983162, 7983232-7983245, 7989348-7989357
383ALOXE3170.99859550561798321368013747, 8013750-8013751
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514KLK4190.99346405228758576551412654-51412655, 51413985-51413987
515ETFB190.9519692603266150104151857422-51857429, 51857557-51857595, 51857656-51857658
516NLRP12190.81638418079096585318654297361-54297390, 54299155-54299158, 54299200-54299208, 54299283, 54301505-54301548, 54301556-54301568, 54301664-54301667, 54304500-54304553, 54304600-54304651, 54307248-54307299, 54307322, 54307373-54307376, 54308554, 54310833-54310845, 54310896-54310915, 54312841-54312853, 54312865-54312879, 54312964, 54312998-54313001, 54313037-54313055, 54313123-54313139, 54313180-54313202, 54313303, 54313333-54313348, 54313386-54313409, 54313416-54313446, 54313481-54313489, 54313536-54313542, 54313588-54313599, 54313628-54313643, 54313646, 54313662-54313691, 54313780-54313784, 54313852-54313861, 54313876, 54313982-54313983, 54314021-54314023, 54314162-54314174, 54314331-54314339, 54314343
517PRKCG190.93075453677173145209454385910, 54392923-54392930, 54392940, 54392987, 54392990-54392994, 54393167, 54401322-54401323, 54401744, 54401761-54401770, 54401817-54401881, 54403891-54403898, 54409961-54409985, 54410133-54410149
518PRPF31190.1321302150054621659-54621746, 54621771-54621835, 54621961-54621973, 54621984-54621989, 54625239-54625322, 54625876-54625913, 54625958, 54625969-54625973, 54626833-54626834, 54626880-54626939, 54627128-54627237, 54627249-54627255, 54627278-54627297, 54627878-54628035, 54629903-54629992, 54631448-54631575, 54631680-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634863
519TSEN34190.967845659163993093354695362-54695384, 54696082-54696088
520NLRP7190.998394348105335311455452839-55452843
521TNNT1190.827629911280113678955644283-55644294, 55644318, 55644322, 55645265-55645282, 55645434-55645448, 55645478-55645516, 55648482-55648483, 55648492, 55648577-55648580, 55652257-55652285, 55652317-55652323, 55652666-55652670, 55658074-55658075
522TNNI3190.852216748768479060955665413, 55665495-55665517, 55665520, 55665564-55665570, 55666177-55666179, 55666190, 55667652-55667696, 55668434-55668441, 55668478
523TPO20.9147037830121323928021481040-1481043, 1481215-1481220, 1481236, 1481240-1481252, 1488381-1488389, 1488531, 1488539, 1488607-1488615, 1499919-1499921, 1520655-1520754, 1544366-1544402, 1544407-1544409, 1544412-1544415, 1544417, 1544421-1544422, 1544429-1544432, 1544438, 1544450-1544475, 1544484-1544495, 1546225, 1546240
524RPS720.9931623931623945853623255, 3623258-3623259, 3623264
525KLF1120.9610136452241760153910183844-10183885, 10186492-10186493, 10186534-10186537, 10188203-10188204, 10188293, 10188306, 10188403-10188410
526LPIN120.9955106621773312267311911798-11911805, 11944674-11944677
527APOB20.99861232836693191369221225094-21225097, 21266792-21266806
528POMC20.98880597014925980425384423-25384431
529HADHA20.9882198952879627229226414415-26414441
530HADHB20.9929824561403510142526508379-26508388
531OTOF20.691024357691021852599426683589-26683590, 26684681-26684688, 26684784-26684789, 26688694, 26689661, 26690366-26690369, 26691282-26691295, 26691342, 26693477-26693498, 26695408-26695432, 26695465-26695517, 26696274-26696333, 26696356-26696410, 26696859-26696872, 26696915-26696978, 26697381-26697542, 26698238-26698243, 26698251-26698255, 26698294-26698343, 26698795-26698832, 26698838-26698879, 26698888-26698889, 26698893-26698906, 26698996-26699006, 26699013, 26699025-26699035, 26699047-26699056, 26699090-26699106, 26699125-26699185, 26699759-26699911, 26700040-26700101, 26700125-26700143, 26700152-26700156, 26700284-26700301, 26700309-26700374, 26700522-26700562, 26700570-26700617, 26702132-26702186, 26702204-26702252, 26702341-26702342, 26702351-26702390, 26702400-26702401, 26702414-26702457, 26702471-26702474, 26702514, 26703071-26703078, 26703116-26703162, 26703654-26703750, 26703761-26703874, 26705274-26705300, 26705323-26705334, 26705348-26705393, 26705426-26705460, 26706418-26706433, 26707342-26707354, 26707377-26707378, 26707397-26707403, 26707464-26707493, 26712079-26712087, 26712137-26712138, 26712546-26712547, 26712566-26712577, 26712588, 26712606-26712608
532EIF2B420.999387254901961163227592306
533C2orf7120.999741401603311386729295448
534XDH20.9962518740629715400231598292-31598299, 31598373-31598379
535SPAST20.89357104267963197185132289006-32289039, 32289053-32289095, 32289152-32289156, 32289211-32289234, 32289253-32289306, 32339842-32339846, 32339851-32339861, 32340771-32340783, 32340858-32340864, 32341215
536CYP1B120.91299019607843142163238298336-38298337, 38301919-38301942, 38301977-38301994, 38302010-38302012, 38302018, 38302044-38302063, 38302103-38302108, 38302196-38302221, 38302399-38302435, 38302476-38302480
537SOS120.97401299350325104400239224122, 39224394-39224409, 39224444-39224447, 39250232-39250238, 39251235, 39281800, 39281850, 39281916-39281942, 39283952, 39283959-39283963, 39283975-39283976, 39285814-39285821, 39285849-39285850, 39285876-39285894, 39285920, 39285945, 39294817, 39294824-39294829
538ABCG820.91592482690406170202244079993-44079999, 44099139-44099148, 44099199-44099221, 44099239-44099243, 44099246-44099248, 44099256, 44099362-44099374, 44099383-44099405, 44099427-44099445, 44100998-44101000, 44101114, 44101117-44101125, 44101559-44101585, 44101591-44101594, 44102315-44102316, 44102323, 44102374-44102392
539EPCAM20.935449735449746194547596666-47596685, 47596696-47596702, 47606107-47606114, 47606171-47606193, 47607002-47607004
540MSH220.9782531194295961280547630343-47630348, 47630454-47630493, 47637426, 47639649, 47639652, 47707955-47707961, 47710009, 47710052-47710055
541MSH620.9784472201812488408348010424, 48010458-48010496, 48010515-48010561, 48010632
542LHCGR20.997142857142866210048982764-48982767, 48982771-48982772
543PEX1320.99834983498352121261258656, 61258664
544ATP6V1B120.999351491569391154271163086
545DYSF20.97893081761006134636071778812-71778813, 71778817, 71778845, 71781011, 71801453-71801459, 71825694-71825722, 71825784-71825790, 71825843-71825856, 71828629-71828636, 71829916-71829935, 71838427-71838428, 71838679-71838683, 71839859-71839870, 71839895-71839896, 71839901, 71840523-71840538, 71847734-71847739
546SPR20.980916030534351578673114688, 73114796-73114800, 73114812-73114819, 73114837
547ALMS120.99880038387716151250473613032-73613034, 73679582-73679583, 73680857, 73680867, 73827996-73828002, 73828342
548MOGS20.973349244232367251474688500, 74688855-74688858, 74689007-74689017, 74689023, 74689026, 74689242-74689243, 74689478-74689480, 74689838-74689856, 74690466-74690472, 74691641-74691642, 74691683, 74691798, 74692263, 74692334-74692336, 74692343, 74692345, 74692352-74692359
549SUCLG120.993275696445737104184686325-84686331
550GGCX20.9833113746157238227785781428-85781429, 85782648, 85782652, 85788025, 85788032, 85788035-85788036, 85788511-85788540
551REEP120.9950495049505360686564631-86564633
552EIF2AK320.9925395404356925335188926730-88926754
553TMEM12720.95815899581593071796930910, 96930940-96930941, 96930992-96931006, 96931042-96931048, 96931097-96931100, 96931103
554SNRNP20020.99984401809391641196951076
555ZAP7020.9817204301075334186098340567-98340600
556RANBP220.8938501291989710279675109345588-109345601, 109347230-109347252, 109347290-109347323, 109352000-109352030, 109352142, 109352185-109352201, 109352560-109352580, 109357110-109357133, 109363193, 109363251-109363254, 109365376, 109365391, 109365423-109365450, 109367733-109367789, 109367831-109367847, 109368018-109368052, 109368074-109368111, 109368433, 109368437, 109369542-109369554, 109369945, 109370295, 109370398, 109371385-109371432, 109371632-109371633, 109371656-109371662, 109374869-109374879, 109378557-109378560, 109378582-109378628, 109378642-109378651, 109380548, 109381262-109381274, 109381990-109381996, 109382622-109382648, 109382787-109382793, 109383031-109383057, 109383075-109383113, 109383137-109383148, 109383207, 109383268-109383301, 109383327-109383360, 109383635-109383682, 109383768-109383798, 109383962-109384010, 109384393-109384419, 109384464-109384511, 109384555-109384567, 109384597-109384634, 109384664, 109384776-109384823, 109384837-109384844, 109397828-109397836, 109397843-109397849, 109398817, 109399105, 109399205, 109400192
557MERTK20.99793000112656341, 112786277-112786284
558PAX820.9985218033998521353113992996, 113994205
559GLI220.908212560386474374761121708819-121708840, 121708958-121708968, 121708971-121708974, 121708980, 121708994-121709002, 121709009-121709010, 121728146-121728148, 121728158-121728164, 121729545-121729586, 121729606-121729639, 121745828, 121745985, 121745988, 121746086-121746087, 121746101-121746105, 121746148-121746182, 121746191-121746198, 121746209-121746223, 121746240-121746284, 121746304-121746326, 121746495-121746503, 121746508, 121746515, 121746546-121746549, 121746582-121746605, 121746619, 121746624, 121746704-121746706, 121747022-121747042, 121747153-121747171, 121747348, 121747352-121747353, 121747365-121747366, 121747482-121747507, 121747661-121747702, 121747987, 121748031-121748035, 121748153, 121748195, 121748214
560BIN120.98260381593715311782127808018, 127808474, 127809859, 127815062-127815077, 127815107, 127864436-127864441, 127864469-127864473
561PROC20.96464646464646491386128178859-128178878, 128178934-128178945, 128180493-128180503, 128180620-128180621, 128180624, 128180628, 128180674-128180675
562CFC120.75168672131279072-131279080, 131279423-131279435, 131279544, 131279618-131279649, 131279668, 131279685, 131279688, 131280370-131280404, 131280443, 131280453-131280463, 131280759, 131280786-131280829, 131280841-131280843, 131285288-131285299, 131285319, 131285322, 131285407
563RAB3GAP120.97793618465716652946135848633, 135848653, 135848672-135848676, 135848680-135848681, 135888131-135888134, 135888189-135888202, 135888261, 135888270-135888291, 135890503, 135890506-135890515, 135893470-135893472, 135911409
564LCT20.99827109266943105784136555671, 136555682, 136558333-136558337, 136566506, 136567311, 136570406
565NEB20.9909382196855918119974152348785-152348791, 152373055-152373062, 152393745, 152394489-152394490, 152417819, 152432209-152432225, 152432679-152432682, 152432743, 152432757-152432760, 152432776-152432850, 152432866, 152470839, 152470998, 152476049, 152482048-152482056, 152482061, 152482066, 152486054, 152486127-152486160, 152499296, 152499664-152499669, 152499825, 152500449, 152500453, 152518711
566CACNB420.9987204094689721563152732982, 152737320
567SCN2A20.99385177799934376018166211136, 166234145-166234151, 166237102-166237103, 166237159-166237163, 166237197-166237199, 166237622, 166237627-166237643, 166245230
568GALNT320.98790746582545231902166613593-166613598, 166627160-166627176
569SCN1A20.99282974820744435997166848838-166848844, 166854548-166854561, 166868653-166868669, 166868771-166868772, 166908289, 166908300, 166908304
570SLC25A1220.9965635738831672037172690500-172690506
571ITGA620.98626373626374453276173292517-173292539, 173292626-173292643, 173292663, 173292674, 173292679-173292680
572CHRNA120.9992721979621511374175622301
573HOXD1320.98255813953488181032176957619-176957623, 176957663, 176957696, 176957820-176957822, 176957825-176957831, 176958043
574AGPS20.98836621143146231977178257518, 178257654, 178346801-178346811, 178346907-178346914, 178362472, 178402921
575PRKRA20.9554140127388542942179300885-179300888, 179300891, 179300939, 179300986, 179306385, 179306388, 179308014, 179308083-179308087, 179312232-179312257, 179314971
576DFNB5920.93106704438149731059179318241, 179318250, 179318307-179318313, 179319071-179319106, 179319234-179319248, 179320817, 179325162-179325173
577TTN20.99471311148352530100248179392336-179392339, 179401260-179401264, 179414714, 179415822-179415823, 179419749-179419752, 179422754-179422755, 179422789, 179425324-179425330, 179431291, 179431887-179431888, 179431910, 179431918-179431923, 179432166, 179432501, 179433131, 179433175-179433178, 179433268-179433274, 179433943-179433946, 179434094-179434098, 179434324, 179434474-179434476, 179434587-179434588, 179434600-179434604, 179435134-179435142, 179435451-179435464, 179436266-179436267, 179436422-179436423, 179436805, 179436963-179436967, 179437254, 179437261-179437262, 179437580-179437581, 179437917, 179437987-179437989, 179437993, 179438161-179438164, 179438247, 179438250-179438251, 179438255, 179438262, 179438276, 179438281-179438282, 179438285-179438286, 179439352, 179439634, 179439704, 179439991, 179440467, 179440475-179440481, 179440528, 179441900-179441901, 179441909-179441911, 179441999, 179442330-179442333, 179442595, 179443976-179443982, 179445175-179445220, 179446703, 179447667, 179451331-179451338, 179454578, 179455119, 179456148, 179456503-179456511, 179456840, 179458000-179458006, 179458378, 179458383-179458386, 179458398, 179458404, 179458468-179458483, 179459147, 179460327, 179460448, 179462377, 179463873, 179464066-179464073, 179467194-179467200, 179468828-179468831, 179470242, 179477670-179477675, 179477682-179477684, 179478521-179478527, 179479020, 179479039, 179481926-179481930, 179482148, 179485130, 179485173, 179485177, 179485184, 179485188-179485193, 179485253, 179485490, 179485578, 179485581, 179485585-179485588, 179485834, 179485853, 179487482, 179489250, 179490089, 179490094-179490099, 179490119-179490123, 179495788, 179495799, 179495957-179495973, 179497067, 179499155-179499180, 179499184, 179499233, 179499236-179499238, 179499242, 179510670, 179514895, 179514905, 179514909-179514912, 179515489, 179515495-179515496, 179538379, 179550289-179550295, 179552939, 179552942-179552943, 179552947-179552951, 179561848-179561850, 179567217, 179578753, 179583907-179583912, 179585752-179585753, 179585761, 179587443, 179590150-179590163, 179590168, 179597623, 179644020-179644025, 179644035, 179644131-179644161, 179647127-179647131, 179647629, 179647701, 179648448, 179648462, 179648873, 179648885, 179650597, 179650600, 179650623, 179654117-179654122, 179654129-179654135, 179654706, 179659143-179659149, 179659681-179659688
578CERKL20.931832395247031091599182438480-182438498, 182438577, 182438585-182438586, 182468589-182468602, 182468613, 182468617-182468618, 182468624, 182468648, 182468652-182468668, 182468705-182468707, 182468713, 182468718, 182468756-182468800, 182468806
579COL3A120.98295841854124754401189851823, 189854122-189854131, 189854150, 189854153-189854155, 189854163-189854164, 189855738, 189856952-189856954, 189860851-189860876, 189871663-189871686, 189872617-189872619, 189872622
580PMS120.9996427295462712799190718772
581HSPD120.96399535423926621722198351835-198351882, 198353146, 198353188, 198354921, 198358049-198358050, 198358888-198358896
582BMPR220.9996791786974713117203384823
583ICOS20.96521600204820388-204820397, 204820581-204820589, 204822522-204822523
584NDUFS120.9977106227106252184206991478, 206991546, 206992587-206992589
585FASTKD220.98921706516643232133207631909-207631920, 207652843-207652853
586CPS120.9982234066178184503211455609, 211459241-211459245, 211469881-211469882
587ABCA1220.99563430919363347788215854081-215854091, 215854153-215854154, 215854157, 215854168-215854187
588PNKD20.9991364421416211158219136239
589CYP27A120.9987468671679221596219677743, 219679649
590WNT10A20.94098883572568741254219745753-219745774, 219745802-219745824, 219757537, 219757550, 219757554-219757561, 219757603-219757609, 219757612-219757614, 219757762-219757765, 219757896-219757899, 219757914
591DES20.97452229299363361413220283215-220283245, 220283259, 220283264, 220283285, 220283700-220283701
592OBSL120.952205236338082725691220416251-220416262, 220416280-220416302, 220416911-220416913, 220417318-220417346, 220417613-220417656, 220423034-220423035, 220435387-220435390, 220435528, 220435531, 220435605-220435621, 220435670-220435673, 220435677-220435678, 220435682-220435704, 220435707, 220435739-220435772, 220435785-220435786, 220435799, 220435803, 220435811-220435814, 220435863-220435886, 220435900-220435926, 220435942-220435954
593COL4A320.99640933572711185013228102696, 228102700, 228121059-228121060, 228163420-228163424, 228163498-228163506
594SLC19A320.9906103286385141491228563531-228563539, 228563972-228563975, 228563986
595CHRND20.80373230373233051554233390937-233390966, 233390973-233390977, 233393589-233393595, 233393654-233393675, 233394649-233394662, 233394697-233394726, 233394802-233394841, 233396062-233396086, 233396164-233396166, 233396172-233396173, 233396260-233396287, 233396295-233396296, 233396315, 233396343-233396354, 233398650-233398657, 233398719, 233398725-233398731, 233398802-233398827, 233399026-233399049, 233399840-233399842, 233399897-233399903, 233399971, 233399998-233400004
596CHRNG20.93693693693694981554233404475-233404503, 233404705-233404707, 233405362-233405371, 233406084, 233407219, 233409094-233409099, 233409164, 233409214-233409218, 233409241-233409247, 233409512-233409529, 233409611-233409612, 233410330-233410344
597COL6A320.99884623452905119534238244864-238244866, 238269814-238269817, 238303483-238303486
598AGXT20.77268871925362681179241808331-241808339, 241808346-241808354, 241808358, 241808405-241808437, 241808595-241808629, 241808656, 241808684-241808730, 241808740-241808752, 241810061-241810064, 241810108-241810125, 241810766-241810799, 241810859-241810863, 241812422-241812452, 241816973-241816987, 241817444, 241817493-241817504
599D2HGDH20.838441890166032531566242689588-242689657, 242689705-242689709, 242690761-242690787, 242695328-242695334, 242695385, 242695388, 242695396, 242707125-242707140, 242707191-242707211, 242707221, 242707224, 242707240, 242707261-242707339, 242707363-242707384
600C20orf54200.9950354609929171410744526-744532
601AVP200.571717171717172124953063306-3063313, 3063341-3063398, 3063406-3063428, 3063431-3063448, 3063633-3063652, 3063655-3063660, 3063707-3063774, 3063787-3063793, 3065317-3065320
602FERMT1200.99557522123894920346088195-6088203
603MKKS200.99941622883831171310393232
604JAG1200.9926168990976227365710621575-10621576, 10622214, 10626729-10626732, 10630221, 10639116, 10653503-10653510, 10653599-10653601, 10653638-10653639, 10653642-10653646
605C20orf7200.9797687861271721103813782139-13782146, 13782223-13782225, 13782233-13782240, 13782243, 13782246
606THBD200.997106481481485172823028599-23028602, 23029771
607SNTA1200.89196310935441164151831998037, 32000209, 32000222-32000225, 32000381-32000387, 32000463-32000469, 32000564-32000573, 32000576-32000578, 32005592, 32031162-32031165, 32031168-32031187, 32031221, 32031229-32031233, 32031236-32031237, 32031254, 32031302, 32031306-32031334, 32031340-32031346, 32031367-32031426
608GSS200.997192982456144142533523401-33523404
609GDF5200.998671978751662150634022285, 34025295
610HNF4A200.9473684210526375142543047103-43047115, 43048372-43048376, 43052773-43052774, 43052817-43052848, 43052872-43052894
611ADA200.9725274725274730109243252936-43252938, 43255168, 43255199, 43257768-43257770, 43257790-43257796, 43264878-43264884, 43280241-43280248
612CTSA200.9866399465597920149744520234-44520250, 44523643, 44523753-44523754
613SALL4200.9930423782416222316250408199-50408201, 50408204, 50408330, 50408343-50408359
614PCK1200.9876939539860923186956137798, 56137803-56137824
615STX16200.989775051124741097857245630-57245639
616GNAS200.929539295392955273857415164-57415171, 57415436, 57415574, 57415613-57415619, 57415656-57415662, 57415696-57415718, 57415895-57415899
617GNAS200.92164418754014244311457428428, 57428440-57428457, 57428590-57428593, 57428630, 57428670-57428673, 57428678-57428685, 57428907-57428908, 57429059-57429103, 57429206-57429228, 57429266-57429276, 57429336, 57429447-57429449, 57429489-57429503, 57429624-57429657, 57429661-57429664, 57429674, 57429677, 57429745-57429757, 57429794-57429805, 57429883-57429917, 57430079-57430085, 57430141
618COL9A3200.479805352798051069205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450574-61450600, 61450644, 61451281-61451299, 61452533-61452551, 61452554, 61452859-61452860, 61452882, 61453109-61453152, 61453463-61453516, 61453943-61453984, 61455797-61455853, 61456320-61456373, 61457169-61457170, 61457172-61457214, 61457556-61457609, 61458119-61458123, 61458132-61458160, 61458593-61458600, 61458614-61458643, 61459275-61459276, 61459291-61459328, 61460123-61460168, 61460275-61460285, 61460296-61460328, 61460811, 61460828-61460851, 61460980-61461007, 61461118-61461121, 61461162-61461171, 61461712-61461748, 61461762, 61461869-61461925, 61463506-61463516, 61463523-61463534, 61464372-61464376, 61464406, 61467562, 61467587-61467617, 61467668, 61467869, 61467872-61467883, 61468530, 61468533-61468535, 61468559, 61468566, 61468571, 61468575, 61468583-61468601
619CHRNA4200.0955414012738851704188461978090-61978215, 61981005-61981225, 61981239-61981265, 61981276-61981277, 61981289-61981298, 61981303, 61981308-61981309, 61981313, 61981322-61981829, 61981835-61981838, 61981847, 61981865-61981983, 61981990-61982056, 61982059-61982115, 61982124, 61982144-61982256, 61982276-61982301, 61982304, 61982325, 61982347-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
620KCNQ2200.293623520427641850261962037997-62038047, 62038053-62038071, 62038089, 62038094-62038126, 62038140, 62038143-62038146, 62038152-62038166, 62038180-62038221, 62038229-62038325, 62038345-62038538, 62038548-62038551, 62038560-62038638, 62038690-62038704, 62039766-62039774, 62039783-62039801, 62039824, 62039843-62039862, 62044815-62044838, 62044856-62044889, 62044913-62044916, 62045516-62045546, 62046265-62046287, 62046304-62046325, 62046373-62046386, 62046392-62046428, 62050991, 62055530-62055531, 62059720-62059730, 62059740-62059779, 62059787-62059788, 62062693, 62065162-62065166, 62065178-62065212, 62065247-62065256, 62069978-62070052, 62070951-62071061, 62073760, 62073773-62073870, 62076012-62076187, 62076591-62076615, 62076625-62076717, 62078100-62078166, 62078183-62078190, 62103521-62103816
621SOX18200.0883116883116881053115562679519-62679523, 62679529-62679616, 62679675-62679702, 62679710-62679715, 62679725, 62679728, 62679734-62679811, 62679820-62680037, 62680046-62680315, 62680512-62680869
622APP210.9939472546476414231327542909-27542922
623IFNGR2210.84418145956607158101434775850-34775922, 34793837-34793848, 34793880-34793913, 34793920-34793943, 34799307-34799321
624KCNE2210.99731182795699137235742831
625RCAN1210.947299077733864075935895851-35895871, 35895972-35895978, 35987249-35987260
626RUNX1210.9826749826749825144336164452, 36259288-36259311
627CLDN14210.951388888888893572037833285-37833304, 37833479-37833480, 37833573-37833575, 37833583-37833590, 37833713, 37833987
628TMPRSS3210.99780219780223136543795973, 43796660, 43803167
629CBS210.9402173913043599165644474032-44474033, 44476913-44476914, 44476918-44476936, 44478987-44478995, 44488671, 44492104-44492143, 44492151-44492162, 44492194-44492201, 44492267-44492271, 44492276
630CSTB210.956228956228961329745196106-45196118
631AIRE210.290598290598291162163845705890-45706003, 45706440-45706533, 45706540-45706544, 45706574-45706610, 45706861, 45706873, 45706887-45706893, 45706936-45707013, 45707400-45707405, 45707422-45707451, 45707470-45707474, 45708241-45708243, 45708249-45708271, 45708277, 45708288, 45708303-45708333, 45709565-45709602, 45709636-45709648, 45709876-45709936, 45709946-45709951, 45710978-45711034, 45711045-45711049, 45711068-45711093, 45712202-45712233, 45712259-45712266, 45712274, 45712876, 45712883-45712926, 45712933-45713058, 45713677-45713713, 45713720-45713734, 45713739-45713743, 45713749, 45713759-45713786, 45714284-45714386, 45716266-45716328, 45717547-45717594, 45717604-45717610
632ITGB2210.93073593073593160231046306727-46306739, 46306804, 46306811-46306813, 46308608-46308619, 46308651-46308684, 46308713-46308716, 46308745-46308749, 46308774-46308810, 46309987-46310027, 46310058-46310060, 46311909, 46313330-46313333, 46330211-46330212
633COL18A1210.530484330484332472526546875450, 46875454, 46875463-46875487, 46875503-46875506, 46875593-46875596, 46875703-46875739, 46875800, 46875803, 46875818-46875844, 46875929-46875973, 46876040, 46876095-46876115, 46876189, 46876194, 46876211-46876238, 46876308-46876312, 46876322-46876323, 46876389, 46876392, 46876395-46876406, 46876507-46876528, 46876572-46876579, 46876583-46876585, 46876589, 46876607-46876625, 46876638, 46876644-46876690, 46876753-46876771, 46876777-46876786, 46888156-46888161, 46888188-46888258, 46888269-46888294, 46888305-46888343, 46888416-46888437, 46888445-46888455, 46888464, 46888544-46888564, 46888572-46888611, 46888623, 46888633-46888691, 46895406-46895412, 46895446-46895449, 46896312-46896313, 46896323-46896365, 46897783-46897791, 46899859-46899864, 46900028-46900047, 46900057, 46900381-46900391, 46900407, 46900412, 46900416-46900423, 46900672-46900674, 46900700-46900705, 46900752, 46900755, 46900758, 46901898-46901926, 46906775-46906822, 46906828-46906906, 46907389, 46907397, 46908348, 46909400-46909425, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912457-46912478, 46912601-46912627, 46913077-46913128, 46913415-46913417, 46913426, 46913454-46913489, 46914459-46914485, 46914776-46914794, 46914804-46914829, 46915272-46915346, 46916414-46916450, 46916461-46916482, 46916964-46917006, 46917513-46917520, 46917526-46917527, 46917547-46917575, 46923925-46923968, 46924330-46924363, 46924381, 46924401-46924402, 46924408-46924470, 46925048-46925192, 46925272-46925336, 46925752-46925778, 46925781-46925803, 46925813, 46925829-46925857, 46925863-46925869, 46927475-46927507, 46929287-46929318, 46929338-46929360, 46929386-46929393, 46929397-46929405, 46929424-46929440, 46929459-46929481, 46929511-46929515, 46929993-46930115, 46931025-46931047, 46931071, 46931106, 46931109-46931111, 46931115-46931117, 46931123, 46931139, 46932120-46932163, 46932166-46932256, 46932292-46932298
634COL6A1210.627146096533851151308747401778-47401836, 47402548-47402677, 47404183-47404383, 47406451-47406461, 47406465, 47406484-47406493, 47406514-47406538, 47406568-47406599, 47406884-47406913, 47406942-47406986, 47407074-47407089, 47407429-47407433, 47407524-47407568, 47408998-47409033, 47409538-47409562, 47409666-47409692, 47410172-47410198, 47410292-47410311, 47410335-47410336, 47410687-47410699, 47410706-47410740, 47410901-47410920, 47410931, 47410944-47410955, 47412078-47412096, 47412672-47412673, 47412687, 47414129-47414143, 47417358-47417362, 47417393-47417397, 47417633-47417661, 47417669-47417676, 47418035-47418072, 47418083-47418085, 47418811-47418844, 47418856-47418873, 47419067-47419089, 47419102-47419118, 47419121-47419124, 47419571-47419606, 47420673-47420674, 47422308-47422315, 47422504, 47423414-47423431, 47423472, 47423488-47423498, 47423507, 47423520-47423532, 47423886-47423896
635COL6A2210.301960784313732136306047531391-47531469, 47531482-47531505, 47531893-47531899, 47531931-47531934, 47531943, 47531951-47531953, 47531964-47532026, 47532050-47532064, 47532158-47532184, 47532197-47532213, 47532257-47532300, 47532316, 47532327, 47532339-47532341, 47532410-47532411, 47532450-47532459, 47533922-47533955, 47533976-47533987, 47535786-47535790, 47535923-47535967, 47536291-47536317, 47536565-47536584, 47536590-47536591, 47536684-47536728, 47537314-47537321, 47537326, 47537350-47537367, 47537788-47537836, 47538528-47538590, 47538944-47538955, 47538960, 47538977-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542436, 47542444-47542445, 47542789-47542851, 47544585, 47544591, 47544597-47544602, 47544613-47544616, 47544800-47544801, 47544822-47544834, 47545180-47545203, 47545219-47545225, 47545379-47545395, 47545422, 47545426, 47545434, 47545439-47545440, 47545444, 47545466, 47545473-47545477, 47545510-47545531, 47545699-47545794, 47545802-47545835, 47545844-47545935, 47545955-47546082, 47546092-47546097, 47546119-47546150, 47546417-47546455, 47551868-47551884, 47551901, 47551905-47552008, 47552022-47552054, 47552060-47552154, 47552168-47552188, 47552191-47552193, 47552205-47552238, 47552242-47552295, 47552300, 47552320-47552424, 47552430-47552466
636COL6A2210.2192982456140426734247552183-47552188, 47552191-47552193, 47552205-47552238, 47552242-47552295, 47552300, 47552320-47552424, 47552430-47552480, 47552496-47552508
637FTCD210.00676506765067651615162647556901-47556987, 47557153-47557208, 47557215-47557219, 47557225-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
638PCNT210.99220857057237781001147744143-47744147, 47754510, 47766823-47766824, 47766830-47766840, 47766844, 47817211-47817214, 47831443-47831450, 47836604, 47847600-47847607, 47848309-47848326, 47848371-47848376, 47848489, 47850484, 47860817, 47863837-47863846
639PRODH220.74597892401553458180318900832-18900867, 18900984-18900988, 18901015-18901019, 18901025, 18904403-18904417, 18904482-18904497, 18905934-18905942, 18905978, 18905986, 18905989-18905990, 18907023, 18907026, 18908868-18908906, 18908913-18908936, 18909877, 18910330-18910371, 18910647-18910672, 18912581-18912605, 18912670-18912673, 18913210-18913235, 18918503-18918509, 18918548-18918551, 18918658, 18918665, 18918668-18918670, 18918689-18918690, 18918703-18918706, 18923528-18923580, 18923583-18923587, 18923593-18923602, 18923605-18923606, 18923619, 18923649-18923701, 18923713, 18923744-18923757, 18923784-18923800
640GP1BB220.02898550724637760362119711093-19711102, 19711377-19711479, 19711491-19711953, 19711961-19711987
641TBX1220.68212365591398473148819747167-19747177, 19747188, 19748428-19748599, 19748608-19748638, 19748644-19748677, 19753299-19753310, 19753337-19753348, 19753430-19753476, 19753487, 19753494, 19753912-19753932, 19753952, 19753960-19753971, 19753979, 19753982-19754009, 19754026, 19754029-19754038, 19754101, 19754123-19754124, 19754182-19754207, 19754225-19754233, 19754295-19754326, 19754345-19754351
642SMARCB1220.9205526770293692115824135746-24135752, 24135865-24135875, 24145563, 24175773-24175804, 24175824-24175863, 24176340
643UPB1220.99913419913421115524919669
644HPS4220.998106060606064211226860012, 26860328-26860330
645CHEK2220.94264622373651101176129083889-29083916, 29083948-29083965, 29085163-29085189, 29090020-29090035, 29091142, 29091837-29091844, 29115387, 29121282, 29121345
646NF2220.9876957494407222178830000004-30000013, 30000067-30000075, 30074308-30074310
647TCN2220.9914330218068511128431011288, 31011737, 31018956-31018962, 31022447-31022448
648TIMP3220.99842767295597163633253280
649MYH9220.91517933027367499588336688091-36688120, 36688127, 36689382-36689388, 36689419-36689421, 36689428-36689457, 36689518-36689524, 36689819-36689831, 36689881, 36690138, 36691001-36691005, 36691674, 36692924-36692927, 36692971-36692972, 36694990-36694998, 36695073-36695076, 36696903-36696922, 36696969-36697000, 36697069-36697084, 36697580-36697591, 36697627-36697641, 36697644-36697656, 36697680, 36698679-36698708, 36700041-36700050, 36700102-36700116, 36701146-36701148, 36702025-36702037, 36702069-36702087, 36702518-36702531, 36708110-36708128, 36710194-36710196, 36710199-36710201, 36710222-36710226, 36710267, 36710336-36710363, 36712625-36712643, 36714258-36714272, 36716310-36716340, 36716931-36716933, 36717838-36717866, 36718474-36718485
650TRIOBP220.856720202874051017709838097461-38097464, 38109256-38109261, 38109282-38109286, 38109322-38109327, 38109412-38109416, 38111904-38111912, 38119719-38119725, 38119798-38119804, 38119879-38119905, 38120030-38120068, 38120095-38120129, 38120150-38120185, 38120287-38120303, 38120393-38120432, 38120444-38120450, 38120549-38120554, 38121014, 38121447-38121453, 38121598-38121604, 38121780-38121829, 38121898-38121913, 38121972-38121993, 38122003-38122012, 38122019-38122029, 38122122, 38122132-38122135, 38122162, 38122183, 38122189-38122200, 38122249-38122256, 38122407-38122417, 38122444-38122449, 38122453, 38122462-38122463, 38122472-38122495, 38129310-38129316, 38129320-38129359, 38129388-38129404, 38129408, 38129415, 38130459, 38130526-38130527, 38130531-38130534, 38130554-38130563, 38130573, 38130588, 38130596, 38130625-38130629, 38130638-38130645, 38130661-38130685, 38130699-38130715, 38130800-38130815, 38130828-38130852, 38130883-38130893, 38130901-38130975, 38131026-38131028, 38131064, 38131067-38131073, 38131121, 38131151-38131187, 38131207-38131243, 38131266-38131272, 38131306-38131345, 38131388-38131427, 38131448-38131449, 38136908-38136917, 38147783-38147797, 38147803-38147835, 38153914-38153946, 38154131, 38161718-38161728, 38165151-38165170
651SOX10220.9685938615274844140138379391, 38379394-38379397, 38379457-38379482, 38379519, 38379540-38379544, 38379736-38379742
652PLA2G6220.01226993865030748348938508274-38508312, 38508511-38508584, 38509494-38509695, 38509702-38509869
653PLA2G6220.526641883519211146242138508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511606, 38511620-38511661, 38511671, 38511680-38511688, 38512082-38512155, 38512163-38512218, 38516766-38516815, 38516826-38516853, 38516880-38516916, 38519102-38519152, 38519160-38519259, 38522378-38522399, 38522448-38522456, 38524277, 38524295, 38524311-38524316, 38524357-38524358, 38524363, 38524389-38524437, 38525462-38525499, 38525525-38525552, 38528873-38528915, 38528963, 38528967-38528969, 38529003-38529007, 38529010-38529020, 38531017, 38531052, 38531063-38531076, 38531081, 38541447
654EP300220.9976535541752917724541546105-41546111, 41556664-41556665, 41560092-41560093, 41574210-41574215
655TNFRSF13C220.2630630630630640955542321416-42321442, 42321474-42321485, 42321509-42321526, 42322105-42322122, 42322138-42322335, 42322642-42322777
656NAGA220.999190938511331123642466301
657CYB5R3220.976821192052982190643045301-43045321
658ATXN10220.999299719887961142846136391
659TRMU220.89415481832543134126646731702-46731735, 46733815, 46748024-46748038, 46749734, 46751365-46751387, 46751468-46751473, 46751476, 46751921-46751959, 46752783-46752792, 46752822, 46752901-46752903
660ALG12220.85889570552147207146750301403-50301422, 50301487, 50303601-50303664, 50303672-50303682, 50303730-50303736, 50304149-50304172, 50307033-50307047, 50307252-50307265, 50307278-50307283, 50307305-50307329, 50307357-50307358, 50307361, 50307397-50307413
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741SLC6A350.6296296296296369018631403098-1403099, 1403102, 1403113, 1403176, 1403180, 1406307-1406349, 1406357-1406403, 1409141-1409222, 1409233-1409240, 1409836-1409853, 1409872-1409912, 1409922-1409933, 1409938-1409964, 1411358-1411470, 1414806-1414823, 1414844-1414930, 1416316, 1420690-1420725, 1420792-1420818, 1422001-1422071, 1422093-1422129, 1432582-1432591, 1432594-1432599
742SDHA50.94189602446483193271593246, 1593323-1593329, 1594534-1594544
743NDUFS650.98463751801565, 1801579-1801583
744CCT550.999384993849941162610250547
745DNAH550.99812612612613261387513866002-13866005, 13916497-13916518
746NIPBL50.996197266785532841537022479-37022481, 37036585-37036587, 37048658-37048681, 37052639-37052640
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748OXCT150.996161228406916156341794784-41794785, 41794788-41794790, 41807518
749ITGA250.998871968415124354652285324, 52285336, 52351893-52351894
750ERCC850.9638958858102443119160200638-60200656, 60200665, 60200676-60200698
751NDUFAF250.99803921568627151060394834
752SMN250.959322033898313688569362946-69362961, 69366546, 69372348-69372365, 69372385
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754HEXB50.995212447636158167173981370-73981377
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758GPR9850.9996828920247361892189971937-89971940, 90144602, 90261233
759WDR3650.99509803921569142856110436326, 110436412-110436413, 110436416, 110439546-110439552, 110448773-110448775
760APC50.9997655883731828532112111326, 112174005
761HSD17B450.9995477159656312211118835133
762LMNB150.909710391822831591761126113201-126113208, 126113234-126113240, 126113334, 126113373-126113404, 126113418-126113447, 126113457-126113534, 126168444, 126168492-126168493
763FBN250.99794026776519188739127702093-127702097, 127702100, 127873061-127873065, 127873275-127873281
764SLC22A550.97729988052569381674131705674-131705675, 131705764, 131705785, 131705798, 131705802, 131705877-131705882, 131705949, 131705956-131705957, 131706016-131706037, 131706056
765UQCRQ50.987951807228923249132202604, 132202607, 132202670
766MYOT50.98530394121576221497137221851, 137221856-137221871, 137221898-137221902
767SIL150.99206349206349111386138282811, 138282897-138282903, 138282919-138282920, 138286945
768MATR350.99528301886792122544138653350, 138653354-138653355, 138653358, 138658492-138658494, 138658499-138658500, 138665034-138665036
769SRA150.99156118143466711139930396-139930401
770PPP2R2B50.99249249249249101332146077612-146077617, 146077687-146077690
771SPINK550.9978691019786973285147504328-147504334
772SH3TC250.9948280320662203867148406798-148406800, 148407043-148407056, 148407978-148407979, 148407985
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774NIPAL450.9992862241256211401156887360
775MSX250.9278606965174158804174151664-174151667, 174151718, 174151721-174151734, 174151769, 174151787, 174151823-174151835, 174151840-174151847, 174151876-174151878, 174151901, 174151904-174151905, 174151961, 174156168, 174156388-174156395
776F1250.9518900343642628582176829623, 176830267-176830280, 176830335-176830345, 176830350, 176830363
777F1250.856060606060612661848176829623, 176830267-176830280, 176830335-176830345, 176830350, 176830363, 176830507-176830515, 176830518-176830528, 176830542-176830543, 176830548, 176830583, 176830586-176830587, 176830869-176830893, 176830914-176830927, 176830936, 176830938-176830939, 176831000-176831007, 176831026, 176831033, 176831036-176831063, 176831230-176831236, 176831356, 176831363-176831370, 176831558-176831562, 176831568-176831589, 176831612-176831638, 176831662-176831665, 176831841-176831842, 176832063-176832089, 176832325-176832352, 176832364
778NHP250.989177489177495462177577977, 177580663-177580666
779GRM650.946848899012911402634178408666-178408671, 178408696, 178413231, 178413454-178413460, 178413605-178413608, 178413675-178413716, 178413726-178413746, 178413881-178413891, 178413947, 178416003-178416004, 178418948, 178421599, 178421659-178421679, 178421894-178421914
780SQSTM150.902494331065761291323179247937-179247941, 179247989-179248049, 179248056-179248079, 179248088, 179248093, 179248097-179248127, 179248136, 179248139, 179250037-179250039, 179251266
781FLT450.2438905180840730944092180038331-180038346, 180038472-180038479, 180039593-180039599, 180040100, 180043367-180043423, 180043433-180043489, 180043901, 180043927-180043955, 180043983-180043994, 180045770-180045920, 180046021-180046109, 180046253-180046348, 180046354-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047673, 180047682-180047715, 180047876-180048007, 180048106-180048241, 180048542-180048579, 180048584-180048585, 180048601-180048653, 180048662-180048664, 180048675-180048713, 180048725-180048742, 180048754-180048867, 180048873-180048904, 180049731-180049832, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
782FOXC160.5282791817087878416621610681-1610748, 1610760-1610801, 1610818-1610833, 1610849-1610893, 1610918-1610935, 1610940, 1610965, 1610975-1610988, 1611020, 1611066-1611111, 1611141, 1611152, 1611166-1611220, 1611296-1611315, 1611325-1611364, 1611399-1611438, 1611456, 1611461-1611476, 1611481-1611533, 1611546-1611614, 1611626-1611627, 1611645, 1611657, 1611660-1611728, 1611799-1611835, 1611875-1611881, 1611898-1611937, 1612001-1612003, 1612006-1612007, 1612018-1612020, 1612033, 1612036-1612055, 1612113, 1612142-1612144, 1612149, 1612194-1612210, 1612219-1612225, 1612319-1612339
783TUBB2B60.7324364723467935813383224985-3225018, 3225036-3225042, 3225097-3225143, 3225184-3225223, 3225252, 3225256-3225263, 3225283-3225305, 3225319-3225345, 3225377, 3225425-3225454, 3225492-3225493, 3225521-3225546, 3225594-3225630, 3225709-3225747, 3225862-3225865, 3225931-3225961, 3226498
784DSP60.99930362116992686167583747-7583752
785ATXN160.9726307189542567244816327848-16327911, 16327921, 16327930, 16327933
786ALDH5A160.9860352155434123164724495334-24495355, 24520755
787HLA-H60.99733333333333275029856427, 29856643
788NEU160.9879807692307715124831829833-31829843, 31830441-31830443, 31830499
789TNXB60.7045101088647570192931976397, 31976420, 31976434, 31976486, 31976824, 31976872, 31976896-31976929, 31976938, 31976941, 31976952, 31977054-31977113, 31977177, 31977190, 31977194, 31977358-31977394, 31977525-31977576, 31977584-31977629, 31977752-31977756, 31977856, 31977859, 31977873, 31977994-31978012, 31978032-31978060, 31978082-31978124, 31978218-31978233, 31978265, 31978273, 31978276, 31978286, 31978307, 31978487-31978535, 31978596-31978599, 31978763, 31978769, 31978785, 31978790, 31978966-31978996, 31979043-31979052, 31979365-31979371, 31979421, 31979449-31979482, 31979515-31979519, 31979522-31979527, 31979559, 31979563-31979574, 31979580-31979582, 31979628, 31979633, 31979960-31979966, 31980086-31980118
790CYP21A260.87432795698925187148832006200-32006255, 32006317, 32006337, 32006363-32006364, 32006580-32006583, 32006940-32006985, 32007220-32007221, 32007919-32007925, 32008512-32008522, 32008657-32008659, 32008682-32008693, 32008720, 32008753-32008781, 32008871-32008882
791TNXB60.940529499567927571272932009152-32009199, 32009559, 32009648-32009667, 32009789-32009848, 32009905-32009933, 32010123-32010129, 32010243-32010289, 32010304-32010334, 32010353-32010363, 32010486-32010490, 32010494, 32010510, 32010590-32010608, 32010728-32010766, 32010790-32010791, 32010816-32010858, 32010964, 32010970, 32010998, 32011007, 32011010, 32011020, 32011041, 32011047, 32011214-32011215, 32011228-32011269, 32011305-32011333, 32011577, 32011804-32011832, 32011897-32011906, 32012159, 32012199-32012240, 32012303-32012347, 32012361-32012402, 32012413-32012428, 32012434-32012436, 32012814-32012836, 32012960-32012972, 32013042, 32013048-32013049, 32014162, 32015527-32015537, 32023870-32023876, 32024430-32024439, 32024520-32024522, 32025943-32025944, 32025990-32025995, 32026062-32026074, 32029206, 32029213, 32029494-32029497, 32030099, 32032600-32032621, 32037374, 32037379
792HLA-DQA160.880208333333339276832609130, 32609139-32609153, 32609169, 32609286, 32609299, 32609949-32609977, 32610387-32610406, 32610423-32610426, 32610436, 32610445, 32610471-32610480, 32610495, 32610510-32610516
793HLA-DQB160.6806615776081425178632629124-32629173, 32629224-32629234, 32629809, 32629845-32629851, 32629859, 32629891, 32629955, 32632575-32632677, 32632687, 32632694-32632707, 32632714, 32632724, 32632739, 32632744, 32632781-32632782, 32632820, 32632843-32632844, 32634280, 32634283-32634311, 32634316-32634318, 32634366-32634384
794COL11A260.9948186528497427521133139336-33139342, 33139499-33139510, 33140313-33140318, 33141969-33141970
795SYNGAP160.9754464285714399403233388042-33388108, 33393627-33393632, 33393635, 33411328, 33411342, 33411425-33411428, 33411432-33411443, 33411655-33411661
796RPS1060.9859437751004749834392864-34392870
797FANCE60.9695841092489149161135420393-35420431, 35425356-35425358, 35430656-35430662
798TULP160.91037446286065146162935478670, 35478736, 35479498-35479503, 35479551, 35479580-35479583, 35479957-35479984, 35479992-35480047, 35480448-35480464, 35480591-35480593, 35480607-35480635
799MOCS160.74725274725275483191139874472, 39876854, 39880062-39880067, 39881169-39881172, 39881537-39881551, 39883825-39883833, 39883878-39883884, 39883930-39883951, 39893422-39893589, 39895068-39895317
800PRPH260.9769452449567724104142672151-42672174
801PEX660.9745158002038775294342935235-42935240, 42936191-42936193, 42936672-42936717, 42946372-42946386, 42946457-42946460, 42946762
802CUL760.999803806160491509743008286
803RSPH960.920577617328526683143612847-43612875, 43612911-43612913, 43612916, 43612919-43612951
804RUNX260.9380587484035897156645390427-45390523
805CD2AP60.999479166666671192047563692
806MUT60.9835774522858437225349403180, 49403282, 49409563-49409590, 49409624-49409625, 49409633, 49409649, 49409683-49409684, 49423921
807PKHD160.9995910020449951222551889394-51889398
808EYS60.999682034976153943565016974-65016975, 66094296
809LMBRD160.997535428219354162370462175-70462176, 70462180-70462181
810RIMS160.989761764126852507972952062-72952098, 72968692, 72968797-72968798, 72975202-72975206, 73000494-73000499, 73023209
811SLC17A560.9919354838709712148874331588, 74345133-74345135, 74351590, 74354312-74354318
812MYO660.9950751684810819385876576287-76576293, 76596670-76596681
813LCA560.999522445081181209480202275
814BCKDHB60.99915182357931117980881056
815PDSS260.98241200107655417-107655424, 107655432-107655435, 107780261-107780270, 107780273, 107780306
816OSTM160.9044776119403961005108375741-108375745, 108395629, 108395642, 108395655, 108395658, 108395683-108395705, 108395714-108395759, 108395836-108395853
817FIG460.99449339207048152724110048342, 110059556, 110059579, 110106173-110106184
818WISP360.99106344950849101119112390684-112390693
819COL10A160.999510523739612043116442418
820GJA160.9939077458659771149121768922-121768928
821LAMA260.9995727865000549363129465046, 129486788, 129775365, 129781409
822ENPP160.99496040316775142778132129181-132129184, 132172387-132172390, 132189261, 132190536, 132203557-132203560
823PEX760.9876543209876512972137143843, 137143912-137143920, 137147580, 137187859
824IFNGR160.995238095238171470137524728-137524734
825PLAGL160.999281609195411392144269135
826IYD60.998850574712641870150710650
827SYNE160.999128589831022326394152553264, 152690204, 152751290-152751305, 152787139-152787143
828TBP60.96764705882353331020170871014-170871019, 170871031-170871034, 170871037, 170871043-170871046, 170871064, 170871067, 170871070, 170871073, 170871076, 170871081, 170871088-170871099
829LFNG70.2026315789473790911402559496-2559927, 2564329-2564333, 2564338, 2564371-2564377, 2564853-2564870, 2564934-2564952, 2565052-2565078, 2565092-2565121, 2565129-2565135, 2565142-2565201, 2565319-2565320, 2565340-2565404, 2565906-2565909, 2565921-2565925, 2565933-2566043, 2566470-2566511, 2566532-2566548, 2566780-2566810, 2566821-2566846
830PMS270.893008883738927725896013046-6013052, 6013149-6013159, 6018282-6018283, 6022486, 6022544, 6026443-6026444, 6026595-6026622, 6026650, 6026749, 6026815-6026832, 6026985-6027005, 6027021-6027051, 6027116, 6027172-6027178, 6029440, 6029450-6029486, 6038774-6038806, 6042088-6042097, 6042104-6042105, 6042138, 6042189-6042231, 6045561-6045567, 6048628-6048638
831TWIST170.6847290640394119260919156559-19156572, 19156626-19156651, 19156665-19156705, 19156748-19156749, 19156751-19156762, 19156765-19156767, 19156827-19156871, 19156887-19156934, 19156944
832DNAH1170.99646330680813481357221609903-21609917, 21630560, 21630567, 21630570-21630572, 21630935-21630951, 21923909-21923917, 21924013-21924014
833HOXA1370.74207369323051301116727239063-27239069, 27239154-27239160, 27239197-27239210, 27239255-27239283, 27239299-27239301, 27239305-27239324, 27239327-27239335, 27239387-27239419, 27239447-27239477, 27239506-27239635, 27239643-27239660
834GHRHR70.9913522012578611127231008492-31008498, 31008521-31008524
835GLI370.9911448450347942474342004908-42004916, 42005118-42005128, 42005208-42005214, 42005542-42005546, 42005586-42005591, 42005682-42005684, 42005687
836PGAM270.7926509186351715876244102381-44102425, 44104432, 44104447, 44104488-44104522, 44104845-44104850, 44104853-44104857, 44104885-44104890, 44104951, 44104976-44104978, 44105027-44105063, 44105089-44105093, 44105116-44105128
837GCK70.9514632405424768140144186097-44186116, 44187259, 44190649-44190650, 44190668-44190670, 44191873, 44191961-44191973, 44192948-44192955, 44193042-44193061
838CCM270.69513108614232407133545039933-45039962, 45103584, 45104159-45104162, 45109445-45109473, 45112325-45112330, 45112361, 45113070-45113116, 45113146-45113150, 45113870-45113921, 45113941-45113947, 45113981-45114007, 45115379-45115488, 45115523-45115567, 45115589-45115608, 45115631-45115653
839GRB1070.997198879551825178550674074-50674078
840EGFR70.9966969446738212363355087014, 55087025-55087035
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928LMX1B90.99106344950849101119129376798-129376802, 129376861-129376865
929ENG90.98684876074861261977130577964-130577974, 130582193-130582197, 130592022, 130616584-130616588, 130616593-130616596
930GLE190.99046256556986202097131271298-131271304, 131285988-131285994, 131287644, 131296156, 131298650-131298653
931DOLK90.96598639455782551617131708369-131708373, 131708659-131708662, 131708730, 131708822-131708825, 131708829-131708831, 131708890, 131709024-131709030, 131709033-131709051, 131709233, 131709237-131709238, 131709419-131709424, 131709549-131709550
932TOR1A90.994994994994995999132586203-132586207
933ASS190.96529459241324431239133327702-133327712, 133346221-133346246, 133346883, 133346887, 133370356, 133370369, 133370376, 133370381
934POMT190.9862258953168302178134393919, 134394249, 134394820-134394841, 134395467, 134397447, 134398327-134398330
935SETX90.9748568583522028034135139641, 135139647-135139651, 135139868-135139887, 135139996, 135140000, 135140281, 135152453, 135152477, 135153484-135153494, 135153576-135153588, 135156869, 135158715, 135158730-135158774, 135163738, 135163978, 135163982-135163991, 135172322-135172328, 135172369-135172383, 135172398-135172432, 135173467-135173470, 135173593, 135173601-135173611, 135202816, 135221765-135221778
936TTF190.9974245768947872718135251327, 135251338, 135251411, 135251416-135251419
937TSC190.99399141630901213495135772009-135772014, 135772571-135772578, 135772845-135772851
938CEL90.706296785557026672271135937403, 135937424, 135937428, 135937448-135937455, 135940547-135940557, 135944521-135944544, 135945985-135946018, 135946438-135946477, 135946533, 135946554-135947098, 135947119
939SURF190.81063122923588171903136218935-136218936, 136218991-136218997, 136219615-136219621, 136220641-136220666, 136220712-136220725, 136221514-136221518, 136221534-136221535, 136221553, 136221572-136221573, 136221736, 136221754-136221777, 136221795, 136223124-136223175, 136223276, 136223295-136223316, 136223326-136223329
940ADAMTS1390.6498599439775915004284136287582, 136290649-136290656, 136291069, 136291426-136291432, 136293754-136293891, 136295062-136295146, 136295169-136295198, 136295217-136295221, 136297709-136297721, 136297760, 136297786-136297813, 136298519-136298546, 136298567-136298570, 136298602-136298632, 136298761-136298771, 136298812-136298820, 136301950-136301964, 136302018, 136302029-136302075, 136302913-136302914, 136302917, 136302921-136302924, 136302930-136302935, 136302974-136303017, 136303390-136303428, 136303484-136303485, 136304487-136304488, 136304492, 136305508, 136305530-136305532, 136305605-136305646, 136307557-136307598, 136307626-136307647, 136307735-136307764, 136307789-136307834, 136307851-136307858, 136308497-136308508, 136308521-136308525, 136308542-136308546, 136308549-136308560, 136308564, 136308613, 136308617-136308619, 136308630-136308682, 136310012-136310044, 136310049, 136310078-136310114, 136310131-136310160, 136310839-136310862, 136310865, 136310930-136310931, 136310937, 136313720-136313747, 136313774-136313778, 136313786-136313810, 136313834, 136313837, 136313847-136313849, 136314922-136314956, 136315059-136315086, 136319541-136319555, 136319600, 136319682-136319721, 136320407-136320421, 136320437-136320438, 136320458-136320552, 136320587-136320591, 136320616-136320620, 136320651, 136321195, 136321198, 136321252-136321258, 136321313-136321326, 136321671, 136321726-136321773, 136321825-136321841, 136323032-136323047, 136323072-136323098, 136323148-136323172, 136323208, 136324142, 136324151-136324172, 136324191-136324192, 136324222-136324235, 136324238, 136324251, 136324254, 136324281-136324284, 136324291-136324302
941DBH90.735167206040994911854136501570-136501572, 136501575-136501578, 136501583-136501593, 136501678, 136501720, 136501723, 136504981, 136504992-136505038, 136505114, 136508584-136508610, 136508682, 136508685, 136508688, 136508705, 136513047-136513048, 136513052-136513065, 136516756-136516848, 136516855-136516899, 136517368-136517372, 136517386-136517406, 136518062-136518080, 136521645-136521656, 136521671-136521684, 136521688, 136521693, 136521705-136521714, 136521723, 136521744-136521772, 136522225-136522284, 136522305-136522351, 136523449, 136523477-136523482, 136523522-136523530
942SARDH90.75190424374326842757136529097, 136529106-136529119, 136529135, 136531857-136531914, 136531924-136531992, 136535706-136535874, 136536657-136536691, 136536705-136536735, 136536747, 136536750-136536770, 136536782, 136536793-136536802, 136536809-136536819, 136550315-136550319, 136550347, 136550351-136550359, 136550367, 136555502-136555545, 136555559-136555560, 136555607-136555614, 136559381-136559427, 136559436-136559488, 136561357, 136568083-136568090, 136568131-136568133, 136570145, 136573412, 136573464, 136577744-136577754, 136577818-136577822, 136578187-136578213, 136578242-136578246, 136582575-136582577, 136584138-136584154, 136599287-136599295
943COL5A190.7910096066702911535517137534034-137534142, 137582758-137582817, 137582836, 137582869-137582925, 137591755-137591825, 137591846, 137591849-137591854, 137591857-137591865, 137591869, 137591888-137591942, 137591963-137591968, 137593017-137593029, 137593041-137593179, 137619112-137619126, 137620625-137620626, 137620630-137620639, 137622167, 137622205-137622206, 137623417-137623432, 137623463-137623474, 137623507-137623509, 137630325-137630350, 137630628-137630654, 137642388-137642414, 137642422-137642443, 137642681-137642696, 137642717-137642728, 137644435-137644488, 137645734-137645749, 137646119-137646160, 137648619-137648638, 137653771-137653796, 137653820-137653824, 137655539-137655548, 137657553, 137657557, 137658854, 137658859-137658863, 137658866, 137659156-137659174, 137660264, 137664660-137664664, 137666757-137666758, 137671948-137671963, 137674535-137674557, 137676860-137676867, 137677849-137677891, 137688263, 137688694-137688699, 137694779-137694825, 137697012-137697018, 137701029, 137701115-137701129, 137707793, 137710502-137710517, 137710551-137710585, 137710857-137710859, 137711995-137711997
944LHX390.688172043010753771209139089201-139089231, 139089275-139089313, 139089337-139089372, 139089378-139089394, 139089458-139089491, 139089507-139089509, 139089562-139089573, 139090498-139090514, 139090551, 139090555-139090556, 139090570, 139090762-139090784, 139090793-139090847, 139090850-139090853, 139090883-139090905, 139091620-139091622, 139094800-139094875
945INPP5E90.4335917312661510961935139324134, 139325459, 139325518, 139325526, 139325543-139325546, 139325551-139325569, 139326276-139326308, 139326322-139326326, 139326329-139326332, 139326339-139326409, 139326417-139326437, 139326931-139326935, 139326964-139326976, 139326995-139327038, 139327439, 139327607-139327622, 139327669-139327731, 139328489-139328493, 139328505-139328515, 139328544, 139328551-139328564, 139328580-139328586, 139329212-139329253, 139329293-139329297, 139333060-139333130, 139333148-139333231, 139333252-139333279, 139333287-139333404, 139333416-139333419, 139333432-139333659, 139333667-139333793, 139333811-139333844, 139333858-139333871
946NOTCH190.07798643714136770707668139390523-139390710, 139390721-139390749, 139390755-139390988, 139390998-139391183, 139391194-139391235, 139391250-139391759, 139391772-139391889, 139391898-139392010, 139393383, 139393419-139393421, 139393564-139393603, 139393605, 139393622-139393639, 139393642-139393650, 139393658-139393674, 139393686, 139395004-139395058, 139395064-139395188, 139395200-139395299, 139396200-139396205, 139396212-139396365, 139396453-139396540, 139396724-139396741, 139396750-139396899, 139396909-139396923, 139397634-139397637, 139397640-139397651, 139397661-139397689, 139397698-139397757, 139397761, 139397774, 139399125-139399311, 139399334-139399465, 139399489-139399546, 139399765-139400082, 139400098-139400333, 139400979-139401025, 139401036-139401091, 139401168-139401218, 139401229-139401425, 139401757-139401785, 139401798-139401804, 139401807-139401822, 139401831-139401889, 139402408-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404239, 139404248-139404321, 139404331-139404340, 139404377, 139404387-139404413, 139405105-139405173, 139405202-139405252, 139405604-139405682, 139405706-139405723, 139407473-139407586, 139407844-139407989, 139408962-139408997, 139409004-139409098, 139409110-139409111, 139409117-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412230, 139412237-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438481-139438490, 139438500-139438554, 139440178-139440238
947AGPAT290.12186379928315735837139568204-139568379, 139569187-139569238, 139569250-139569254, 139569258-139569259, 139571037-139571073, 139571081, 139571099-139571105, 139571124-139571132, 139571434-139571468, 139571472-139571473, 139571496-139571588, 139571875-139572008, 139581628-139581809
948SLC34A390.1194444444444415851800140126158-140126163, 140126170-140126191, 140126530-140126576, 140126612, 140127027-140127146, 140127148-140127155, 140127236-140127248, 140127267-140127283, 140127300-140127379, 140127456-140127518, 140127530, 140127543-140127558, 140127663-140127790, 140127803-140127856, 140128090-140128174, 140128320-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129077, 140129085-140129183, 140130404-140130498, 140130511-140130692, 140130699-140130868
949EHMT190.785732614831928353897140513481-140513485, 140513494, 140605436-140605481, 140611078-140611634, 140622808-140622811, 140622823-140622831, 140622839-140622842, 140622918-140622981, 140638493, 140669633-140669639, 140669692-140669703, 140671130-140671148, 140671248-140671263, 140672348-140672375, 140672397-140672405, 140672450-140672460, 140674093-140674096, 140674102-140674103, 140707921-140707925, 140708942-140708948, 140728855, 140728918-140728930, 140729302-140729304, 140729399-140729405
950SHOXX0.50853242320819432879591633-591909, 595353-595365, 595372-595406, 595442-595527, 595536, 595544-595545, 595547, 595552-595561, 605131-605136, 605256
951CSF2RAX0.3961685823754878813051401597-1401632, 1401645-1401648, 1401659-1401672, 1404671-1404704, 1404730-1404739, 1404765-1404813, 1407416-1407425, 1407677-1407712, 1407745-1407767, 1409230-1409234, 1409254-1409267, 1409276, 1409298-1409335, 1409342-1409377, 1409397, 1413221-1413283, 1413292-1413298, 1413307-1413354, 1414320-1414331, 1414346-1414347, 1419384-1419513, 1419518-1419519, 1422154-1422255, 1422816-1422831, 1422849-1422904, 1424373-1424403, 1428306-1428312, 1428347
952SMSX0.994550408719356110121958954-21958959
953ARXX0.9686204854943853168925031488-25031503, 25031552, 25031630, 25031654-25031685, 25031777-25031779
954RPGRX0.643249494073431234345938144793-38144824, 38144874-38144889, 38144915-38144926, 38144948-38144961, 38145004-38145024, 38145044-38145065, 38145088-38145104, 38145120, 38145123-38145162, 38145172-38145178, 38145182, 38145185-38145230, 38145275-38145829, 38145884-38145946, 38145955-38145957, 38145965-38146038, 38146090-38146098, 38146114, 38146120-38146139, 38146155-38146174, 38146199-38146238, 38146256-38146317, 38146374-38146394, 38146450-38146460, 38146497-38146498, 38147114-38147131, 38147141-38147148, 38147206-38147233, 38147256-38147264, 38147278-38147294, 38150212-38150222, 38150646-38150660, 38150692-38150705, 38156580-38156583
955OTCX0.99624413145544106538226642-38226645
956TSPAN7X0.992675038420812-38420817
957NYXX0.9771784232365133144641332797, 41332804, 41332809, 41332819-41332821, 41333282-41333294, 41333337-41333340, 41333944-41333953
958RP2X0.9971509971513105346739121-46739123
959FGD1X0.99757449757457288654494250-54494256
960ALAS2X0.999433106575961176455043975
961ARX0.9898660875859628276366765159-66765178, 66765211, 66765214-66765220
962DLG3X0.999592502037491245469722048
963SLC16A2X0.997828447339854184273641389-73641391, 73641569
964BTKX0.997979797979841980100611098-100611101
965CUL4BX0.998176513493852742119694058-119694062
966XIAPX0.97991967871486301494123019743-123019752, 123019844, 123040945-123040951, 123040996-123041007
967GPC3X0.9977051061388441743133119346-133119349
968ZIC3X0.9943019943019981404136651141-136651148
969SOX3X0.9962714392244651341139586144-139586148
970FAM58AX0.9809523809523814735152864483-152864485, 152864511-152864521
971SLC6A8X0.816561844863733501908152954030-152954099, 152954112, 152954122-152954188, 152954205-152954269, 152956766-152956772, 152957541, 152957545-152957550, 152958804-152958806, 152958917-152958939, 152959385-152959393, 152959470-152959472, 152959589-152959593, 152959643, 152959801, 152959804-152959805, 152959809-152959829, 152959860-152959870, 152960202-152960204, 152960234-152960251, 152960547-152960553, 152960607-152960632
972ABCD1X0.699285075960686732238152990743, 152990749-152990809, 152990819, 152990857-152990886, 152990962-152991006, 152991035-152991128, 152991154-152991200, 152991244-152991273, 152991277, 152991281, 152991288-152991291, 152991354-152991416, 152991437-152991469, 152991515-152991549, 152991584-152991592, 152994845, 153001666-153001671, 153001871-153001895, 153001916-153001961, 153002630-153002645, 153005576, 153005678-153005682, 153006038-153006050, 153008443-153008453, 153008943-153008949, 153009009-153009054, 153009083, 153009086-153009099, 153009104-153009107, 153009119-153009140
973L1CAMX0.99470058293588203774153128943, 153133005-153133008, 153135321, 153135600-153135606, 153135905-153135911
974AVPR2X0.9937275985663171116153172050-153172056
975OPN1LWX0.9981735159817421095153424291-153424292
976OPN1MWX0.9981735159817421095153461421-153461422
977OPN1MWX0.9981735159817421095153498539-153498540
978FLNAX0.881923464249759387944153577295-153577303, 153577803-153577829, 153577886-153577893, 153578153-153578159, 153578438-153578444, 153578447, 153579277-153579295, 153579317-153579318, 153580272-153580278, 153580584, 153580685-153580696, 153580701, 153580742-153580745, 153581030-153581038, 153581425-153581431, 153581501-153581513, 153581563, 153581566-153581572, 153581668-153581669, 153581672, 153581687, 153581693-153581695, 153581708, 153581720-153581748, 153581774-153581778, 153581813-153581825, 153582283-153582285, 153582538-153582557, 153582586-153582597, 153582622-153582628, 153582823-153582836, 153583031-153583035, 153583068-153583079, 153583250-153583252, 153583255, 153583348-153583354, 153583409-153583439, 153585619-153585631, 153585823-153585831, 153585928-153585937, 153586611-153586618, 153586642-153586660, 153587394-153587401, 153587677-153587680, 153587689-153587697, 153587852-153587869, 153587925, 153587933-153587962, 153588118-153588134, 153588171-153588178, 153588211-153588213, 153588218, 153588223-153588250, 153588386-153588391, 153588602-153588624, 153588817-153588823, 153588838-153588872, 153589749-153589751, 153589776-153589815, 153589824, 153589836-153589846, 153590054-153590055, 153590061-153590062, 153590119-153590125, 153590154-153590155, 153590686, 153590848-153590871, 153592441-153592465, 153592671-153592676, 153592958-153592964, 153593225-153593231, 153593598-153593599, 153593717-153593732, 153593778-153593785, 153593845-153593854, 153594396-153594405, 153594439-153594442, 153594448-153594455, 153594505, 153594819-153594824, 153595110-153595114, 153595175-153595185, 153596009-153596012, 153596216-153596223, 153596259-153596266, 153596354, 153596374-153596377, 153599271-153599304, 153599370-153599375, 153599429-153599478, 153599546-153599580
979EMDX0.9411764705882445765153607908-153607912, 153608050-153608068, 153608094-153608105, 153609273-153609274, 153609515-153609519, 153609555-153609556
980TAZX0.9708491761723723789153640241-153640256, 153640502-153640506, 153641588-153641589
981G6PDX0.934065934065931081638153760272-153760300, 153760633, 153761332-153761343, 153761796-153761799, 153762357-153762368, 153762670-153762676, 153763576-153763579, 153764168-153764185, 153764237, 153775021-153775027, 153775068-153775080
982IKBKGX0.9972677595628441464153788736-153788739
983USP9YY0.999869587897761766814848424
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5ABCA4-A1038Vhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
2IL23R-Q3Hhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
2IL23R-L310Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2IL23R-R381Qhomozygous0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
2PCSK9-D321Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R4270Thet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Q585Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-LAL12Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CHIT1-G102Shomozygous0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhomozygous0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-R462Qhomozygous0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
2TBX22-E187Khomozygous0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1.5NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5NOD2-R702Whet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.97 (probably damaging), Testable gene in GeneTests
1.5MATN3-T303Mhet unknown0.011Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.25MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
1.25MEFV-E148Qhet unknown0.012Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.25RYR2-A1136Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25RYR2-G1885Ehet unknown0.018Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125PRODH-R431Hhet unknown0.080Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LAMA2-V1138Mhomozygous0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1LAMA2-A2585Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1COMP-N386Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M2148Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-F74ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK124052-A117ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AKAP9-M463Ihomozygous0.442Unknown
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
1AKAP9-K2252Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1OR2T3-M204Thomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
1OR2T3-A214Thomozygous0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1DSC3-N239Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT10-I101SFGGGSFGGGShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TLR5-F616Lhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1TLR5-R392*het unknown0.044Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TLR5-Q181Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1FCGBP-R4909Hhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1FCGBP-P4665Lhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
1FCGBP-H3668Rhomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1FCGBP-N2089Dhomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RAPSN-R205Qhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCG2-Q141Khomozygous0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1FANCB-G335Ehomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MTHFR-R594Qhet unknown0.040Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LEPRE1-M549Ihomozygous0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
1AGL-Q229Rhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AGL-G1115Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MYH6-V1101Ahomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MYH6-G56Rhomozygous0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1FUT2-YSSLIFV234CSSLIFMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-S799Thet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-D5ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BRCA2-KNNDY985YNNDDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625MYO7A-K542Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625BBS4-Q459*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.625USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.625USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625USH2A-Y467Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0513-R100Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5GUCY2D-L782Hhomozygous0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K4087Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A4025Thet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-V3898Mhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-R3480Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T3115Rhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q2767Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEK2520LEREKAERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-R1951Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.269 (possibly damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP8-L268Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5USP8-T739Ahet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MGA-T716Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-Y1453Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R928Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CMTM4-Y49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CMTM4-T31Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RBL2-E575Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACSM3-L100Phet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DSG3-S771Fhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DSG3-T912Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RAI1-Q1509Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACPT-P95Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ZNF813-K446Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TSKS-E167Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.813 (possibly damaging)
0.5DMPK-T544Mhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-T3542Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TET3-P294Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5SRBD1-P822Ahet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SRBD1-V798Fhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5EGLN2-S58Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.87 (probably damaging)
0.5PAK4-R135Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.307 (possibly damaging)
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPC1-R1266Qhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPN3-R170Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5EPN3-P544Thomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-H203Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAP2K3-K205Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5SLFN13-K658Nhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLFN13-E652Khet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN13-S235Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAM11-L93Shet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-R141*het unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ADAM11-A226Thet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-P255Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-R918Hhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RHPN2-H357Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RHPN2-A353Mhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RHPN2-H351Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN3-E2610Dhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-N1869Khet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN3-G1614Shet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-V1326Ihet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-D662Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-R473Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN3-M371Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LMAN1-M410Lhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF57-S56Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ZNF57-T223Nhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.654 (possibly damaging)
0.5SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRG4-R180Whomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRG4-T604Ahomozygous0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASPM-L3132Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPS6KC1-P319Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PGLYRP4-G192Vhomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PGLYRP4-Q92Rhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.719 (possibly damaging)
0.5PGLYRP4-I13Lhomozygous0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-R140Whomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCRLB-T32Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FMO3-E158Khomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO3-E308Ghomozygous0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSCN-Q502Rhet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-D2106Ehet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-H4381Rhet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-E4387Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OBSCN-C4450Rhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-S4642Chet unknown0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-G4666Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-D4962Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-D5169Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-P6272Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.402 (possibly damaging)
0.5TYSND1-V291Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.475 (possibly damaging)
0.5TYSND1-P203Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5TYSND1-T65Ahet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.123 (benign)
0.5SLC29A3-R18Ghomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhomozygous0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PRKG1-N267Shet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PITRM1-Q1037Rhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-Q516Hhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PITRM1-A397Vhomozygous0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I328Vhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-L145Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLG-G3436Ahet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-D2936Ghet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2194Hhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2119Hhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1699Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1684Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BNIPL-T3Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PHC2-A145Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5DEM1-L151Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5DEM1-G172Vhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-V3640Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALPL-V522Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FHAD1-R182Hhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FHAD1-G651Rhet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FHAD1-A1167Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5FHAD1-I1325Vhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA21-H305Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.881 (probably damaging)
0.5SPATA21-P119Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CDA-K27Qhomozygous0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A439Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-P511Shet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
0.5CROCC-D586Hhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-R1030Whet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CROCC-LE1031QKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5FAAH-P129Thomozygous0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OVGP1-E676Qhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NGF-A35Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5ADAMTSL4-S268Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ADAMTSL4-R1028Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5IGSF3-V920Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5AMY2B-G319Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM151A-A416Vhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAM151A-P335Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OMA1-F211Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5OMA1-P117Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA1-R364Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5LRIT2-T510Phomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRIT2-V496Ahet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRIT2-L220Fhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5LRIT2-K179Nhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.827 (possibly damaging)
0.5RGR-S245Fhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HIP1R-C938Fhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NCOR2-P2008Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NCOR2-A2007Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STAB2-D2021Nhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLL2-S4010Phet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-R83Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-R149Chet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GNPTAB-T644Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARL11-P131Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.895 (probably damaging)
0.5PROZ-R295Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.884 (probably damaging)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-R1393Whet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-I4209Thet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.03 (benign), Testable gene in GeneTests
0.5SYNE2-N4418Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-E4913Khet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5GRK1-T8Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRK1-A14Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACIN1-S467Phomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phet unknown0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhomozygous0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-N20Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PYGL-I806Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASC1-K673Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CASC1-A639Ehomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASC1-T530Ahet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EIF3F-P39Lhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICAL2-Y636Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIM6-TRIM34-D636Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MRPL23-R11Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MRPL23-G32Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNMBP-C1413Whomozygous0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.566 (possibly damaging)
0.5DNMBP-M831Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.987 (probably damaging)
0.5FBXW4-A19Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBXW4-A3Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PNLIPRP3-S179Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PNLIPRP3-V381Ihomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNLIPRP3-R382Ghomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRR5L-A41Thomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5PRR5L-T139Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5PRR5L-P330Shet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-G2705Rhet unknown0.046Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V1565Lhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.038 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GYS2-T546Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5POLA2-G583Rhomozygous0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTP1-I105Vhomozygous0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-A807Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDHB6-V446Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB6-H636Qhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.393 (possibly damaging)
0.5PCDHB6-L684Fhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5PCDHB6-G776Dhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN2-S2580Lhet unknown0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5TBC1D9B-K1119Thomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBC1D9B-E819Khet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.943 (probably damaging)
0.5HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T60Shet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGER-G82Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HLA-G-T282Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5HLA-H-D29Ahet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-P32Qhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E34Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARSB-V358Mhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AMBN-L354Phet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC12A8-R664Qhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5SLC12A8-I281Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SLC12A8-P266Lhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC12A8-R181Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5EIF4G1-T161Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5EIF4G1-M432Vhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EIF4G1-P1229Ahet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.824 (possibly damaging)
0.5HTT-T994Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BDP1-D38Ehet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-R757Chet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-I1264Mhet unknown0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V1347Mhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-Q1676Ehet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5BDP1-I2013Lhet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDHA-*109Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDHA-Q65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAT1-K4059Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-T1585Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5FAT1-H1273Rhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-R1268Qhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAT1-Y1250Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAT1-R1064Ghet unknown0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhet unknown0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-F614Lhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V482Ihet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S404Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS12-R386Qhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT4-Q453Lhomozygous0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5FAT4-A807Vhomozygous0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.799 (possibly damaging)
0.5FAT4-S3873Nhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT4-R4726Khet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMAA-Q363Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IFNA17-H57Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EXOSC3-Y225Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5TJP2-D482Ehomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP2-M668Ihet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IFNA16-IA132TPhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IFNA16-T124Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA16-V65Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA16-I47Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5TG-P118Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5CYP11B2-V386Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP11B1-T248Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-R525Qhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBH-A211Thet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SVEP1-A2750Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-L1648Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-K899Rhet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-I637Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SVEP1-V507Ihet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5SVEP1-R229Ghet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMT1-D411Ehet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTGS1-W8Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-P17Lhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-I1334Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL17F-V155Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.564 (possibly damaging)
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-T6792Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-T5426Mhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-P998Lhomozygous0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLL3-N942Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MLL3-L687Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MLL3-L291Fhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RP1-R872Hhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-A1670Thomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-S1691Phomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHRNA2-T125Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABP1-T16Mhomozygous0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-S332Fhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABP1-T592Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-H645Dhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLHDC10-S2Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging)
0.5MLL5-G999Chet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5SLCO6A1-T654Rhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5SLCO6A1-A27Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5RNF123-R387Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5STX16-R148Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.622 (possibly damaging), Testable gene in GeneTests
0.5TRPM8-R247Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TRPM8-Y251Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRPM8-S419Nhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GIGYF2-P460Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5GIGYF2-Q1216QQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-N678Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MKKS-I339Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GNB1L-T284Mhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5GNB1L-R37Hhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5TUBB1-Q43Phet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5SLC5A1-N51Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.043 (benign), Testable gene in GeneTests
0.5SLC5A1-A411Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A1-H615Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GTSF1L-L56Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFDC3-R63Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFDC3-H36Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.207 (possibly damaging)
0.5NEB-I6534Vhomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5SAG-I76Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.436 (possibly damaging), Testable gene in GeneTests
0.5SAG-V403Ahet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TTN-L29276Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G20922Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R20787Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S19791Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V13182Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E10471Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R7050Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G5624Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MINA-P201Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIDT1-G3Shet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIDT1-Y602Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SIDT1-D625Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BMPR2-S775Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.375RPGRIP1-Q589Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MERTK-R20Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-R1344Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-T544TKEThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RAX-A254Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.375COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL1A2-T1231Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TAF1B-A6Shet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25TAF1B-T281Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TAF1B-T351Ahomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.25TAF1B-E462Dhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTS13-Q448Ehet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.25AIM1-E1196Ahet unknown0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN3A-D1089Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCN3A-N43Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DOCK1-I1210Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DOCK1-A1857Thomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ICAM3-D143Ghet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ICAM3-T112Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAMTSL1-L823Ihomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL1-G853Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAMTSL1-Q1375Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25C10orf113-D100HhomozygousUnknown
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
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM179A-L177Phet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM179A-Q265Rhomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25FAM179A-S442Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM179A-V535Ahomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM179A-R724Chet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM179A-T941Ahet unknown0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM179A-G944Vhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHANK1-V1504Ahomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHANK1-K1122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PRX-G1132Rhet unknown0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25KIAA1107-L879Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1107-N890Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1107-T993Nhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP3A7-R409Thet unknown0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_175884-R10Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_175884-M5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM81-F100Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.25TMEM81-R77Qhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT13-E376Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25KRT13-T298Ahomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT13-A187Vhomozygous0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25TSHR-E727Dhet unknown0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANK2-V2369Ahet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBEAL2-T488Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NBEAL2-G493Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NBEAL2-R511Ghomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25NBEAL2-L520Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TBX4-G6Ahet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP2D7P1-H290Rhomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-L141Phomozygous0.397Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-V137Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CYP2D7P1-F30Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCD2-N405Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview
0.25C17orf57-V312IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-Y546*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AK298931-E88QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1268Shomozygous0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R849Hhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-L173Shet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K77Nhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhomozygous0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG1-D429Ehet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BANK1-S303Rhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.45 (possibly damaging)
0.25BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BANK1-N735Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OR5H2-E16Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR5H2-I230Vhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR5H2-K234Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OR5H2-I286Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.719 (possibly damaging)
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25CTNS-T260Ihet unknown0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-G713Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCNN1A-T722Ahomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCNN1A-R240Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TAF4B-T358*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TAF4B-V438Lhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.123 (benign)
0.25TAF4B-N539Shet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RIPK4-M666Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RIPK4-Q638Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MPND-P398Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MPND-L456Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHNAK-S201*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25CTDP1-S61Ahet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25NM_004719-F1394Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_004719-F657Yhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25NRG2-S777Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NRG2-R577Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPD-T33Ahet unknown0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BTBD17-Q419Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BTBD17-A163Ehet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1B-R264Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1B-R264Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1B-P263Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TUBA1B-R214Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT2-G219Dhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.698 (possibly damaging), Testable gene in GeneTests
0.25KRT2-S101GFGGGSGFGGGSGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDHB3-E207Khet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.555 (possibly damaging)
0.25PCDHB3-R414Shet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.25PCDHB3-A580Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KIAA0141-W21*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KIAA0141-A247Thet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0CBS-I278Thet unknown0.003Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0RAB7A-K175Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0BTD-D444Hhet unknown0.030Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,702,285,340 bases (94.6% of callable positions, 87.7% of total positions)

Coding region coverage: 31,102,128 bases (93.4% of all genes, 94.6% 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, chrY

Gene search

"GENE" or "GENE A123C":

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