hu1E868D - GET-Evidence variant report

Variant report for hu1E868D

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
2MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
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
3TNFRSF13B-C104RLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00399703Hypothesized to cause common variable immunodeficiency (CVID) in a dominant manner, but observations lack statistical significance and the frequency of people having this variant (0.8%) is much higher than the prevalence of the disease (0.002%). If this variant is associated with increased risk, carriers of this variant must still have an extremely low chance of developing CVID. Other genetic factors may be necessary.1
4TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Homozygous
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
5ERCC6-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
6SP110-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
7TP53-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
8HFE-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
9HAMP-G71DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00195204In a study from a small family (parent & two children), this variant was reported to have a modifier effect on hereditary haemochromatosis, increasing the severity of iron overload. Individuals were also homozygous or heterozygous for HFE C282Y. The variant was seen heterozygously in three of 1022 control chromosomes.1
10ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
11NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
12CFH-V62ILowLikelyLikely protective

Complex/Other, Homozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
13KCNJ11-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
14MTR-D919GLowUncertainUncertain protective

Complex/Other, Homozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
15CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
16NEFL-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
17GUCY2D-A52SLowUncertainUncertain benign

Recessive, Homozygous
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
18LOXL1-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
19TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
20CASP8-M1TLowUncertainUncertain benign

Unknown, Heterozygous
0.0310451Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic.1
21BRCA1-Q356RLowUncertainUncertain benign

Unknown, Heterozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
22APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
23TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
24DSP-R1537CLowUncertainUncertain benign

Unknown, Heterozygous
0.0104109Probably benign / nonpathogenic.1
25FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
26NEUROD1-P197HLowUncertainUncertain benign

Unknown, Heterozygous
0.0200781Tentatively presumed benign. Other disruptive mutations in this gene have been reported to cause type 2 diabetes in a dominant manner, but this was found in a PGP participant who does not report having the disease.1
27PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
28RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
29SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
30SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 29786193 / 33212919 = 89.68%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.04284783317041458756138955553-955753, 957581-957842, 970657-970704, 976045-976260, 976553-976777, 976858-977082, 977336-977380, 977394-977518, 977538-977542, 978619-978837, 978918-979112, 979203-979212, 979243-979302, 979309-979403, 979489-979637, 979714-979740, 979766-979819, 980541-980628, 980739-980751, 980764-980903, 981113-981124, 981136-981256, 981344-981404, 981412-981461, 981464-981467, 981540-981559, 981575-981582, 981591-981645, 981777-982072, 982084-982115, 982200-982337, 982707-982834, 982953-983053, 983065-983067, 983156-983261, 983271-983275, 983392-983521, 983535-983745, 984247-984439, 984616-984831, 984946-985175, 985283-985417, 985613-985709, 985807-985917, 985937-985971, 986106-986217, 986633-986749, 986833-987025, 987108-987195, 989133-989198, 989207-989235, 989250-989357, 989828-989931, 990204-990361
2GABRD10.11111111111111120813591950863-1950930, 1956381-1956398, 1956403, 1956415, 1956418-1956484, 1956488-1956493, 1956773-1956811, 1956829-1956840, 1956957-1957177, 1959028-1959086, 1959594-1959641, 1959660-1959664, 1959668-1959724, 1960550-1960697, 1960703-1960705, 1960990-1961014, 1961024-1961058, 1961064-1961159, 1961165-1961201, 1961422-1961527, 1961540-1961573, 1961581-1961588, 1961593-1961608, 1961624-1961721
3PEX1010.458715596330285319812337205-2337249, 2337258-2337259, 2337268-2337273, 2337931-2337978, 2337987-2338014, 2338023, 2338026-2338028, 2338047, 2338159-2338220, 2338255-2338316, 2338319-2338321, 2339891-2339896, 2339926-2339940, 2339968-2339974, 2339981, 2339988-2339991, 2340000-2340001, 2340009, 2340015-2340016, 2340019-2340048, 2340053-2340055, 2340058, 2340111-2340127, 2340154-2340160, 2340181-2340200, 2340206, 2340211, 2340226-2340245, 2340258, 2340270-2340276, 2341814-2341819, 2341822, 2341867, 2341879-2341890, 2343830-2343869, 2343878-2343941
4NPHP410.73043681382854115442815923334-5923336, 5923950-5924002, 5924020-5924023, 5924444-5924464, 5924489-5924516, 5924537-5924547, 5924549-5924577, 5925191-5925259, 5925300-5925311, 5925315-5925319, 5926487-5926492, 5926496-5926499, 5926507-5926508, 5927091, 5927127-5927128, 5927151, 5927154, 5927870, 5927897-5927901, 5927936-5927956, 5934549-5934568, 5934628-5934703, 5934716-5934717, 5934937-5934976, 5934992, 5935003-5935160, 5937160-5937210, 5937289-5937296, 5937354, 5937358, 5940186-5940229, 5947346-5947526, 5950931-5950995, 5951008-5951014, 5951053-5951081, 6021981-6021987, 6027369-6027373, 6027378-6027379, 6029166-6029171, 6029199, 6029203-6029207, 6029315, 6038330-6038413, 6038434-6038473, 6046220, 6046265-6046280, 6046326-6046348
5ESPN10.50058479532164128125656485016-6485309, 6488286-6488353, 6488375-6488393, 6488416-6488447, 6488458-6488479, 6500362, 6500365-6500367, 6500382-6500385, 6500388-6500405, 6500417-6500495, 6500686-6500804, 6500811-6500868, 6501005-6501051, 6501062, 6501069, 6501100, 6501111-6501125, 6505726-6505762, 6505842-6505877, 6505882-6505890, 6508701-6508744, 6508760-6508786, 6508807-6508850, 6508857-6508896, 6508907-6508928, 6508952-6508992, 6509033-6509086, 6509100-6509145, 6511797-6511808, 6512041, 6512045, 6512048, 6512067-6512069, 6512080, 6512106-6512140, 6512152-6512156, 6517318, 6520063-6520098, 6520175, 6520179, 6520185
6PLEKHG510.7212292254625388931896527627-6527632, 6527961, 6528024-6528028, 6528046, 6528054-6528078, 6528092, 6528095, 6528118-6528124, 6528191, 6528236-6528241, 6528244, 6528250-6528251, 6528264-6528270, 6528294-6528302, 6528513, 6528531-6528548, 6529183-6529185, 6529222, 6529244-6529265, 6529395-6529426, 6529682-6529702, 6529726, 6530336-6530339, 6530342-6530344, 6530352-6530353, 6530394, 6530400, 6530608, 6530630-6530659, 6530690, 6530799, 6530810-6530814, 6530823-6530877, 6530887-6530901, 6530920-6530944, 6531071-6531160, 6531572-6531603, 6531609-6531654, 6531688, 6531696, 6531844-6531860, 6532618-6532654, 6533068, 6533078, 6533110, 6533113, 6533117-6533121, 6533126, 6533135-6533140, 6533143, 6533204, 6533364-6533365, 6533410-6533417, 6534097-6534126, 6534148-6534155, 6534202-6534224, 6534532-6534582, 6534634-6534647, 6535133-6535139, 6535144-6535145, 6535163-6535198, 6535528-6535563, 6535572-6535582, 6536011-6536013, 6536084, 6536087-6536088, 6537632-6537638, 6537692-6537700, 6556553-6556629, 6557380-6557383
7KIF1B10.998870694522876531310397553, 10435092-10435096
8PEX1410.57142857142857486113410678428, 10683094-10683135, 10683158-10683169, 10684431-10684453, 10687329-10687334, 10687339, 10687380-10687420, 10689588-10689601, 10689666-10689669, 10689684-10689828, 10689831, 10689849-10690044
9TARDBP10.9742971887550232124511082356-11082362, 11082453-11082456, 11082476, 11082519-11082538
10MASP210.54051431344008947206111086955-11086964, 11087238, 11087668, 11090808-11090814, 11090916, 11090921, 11094885-11094895, 11094912-11094932, 11097750-11097780, 11097803-11097868, 11102932-11103050, 11103058-11103079, 11103396-11103442, 11103454, 11103463-11103592, 11105465-11105571, 11105580-11105596, 11106613-11106669, 11106676-11106691, 11106704, 11106718-11106719, 11106738-11106790, 11106948-11106971, 11106981-11107176, 11107260-11107264
11MTHFR10.73921867072552514197111850836-11850837, 11852359, 11852415-11852436, 11853971-11853990, 11853996, 11854048-11854064, 11854098-11854110, 11854491-11854561, 11854786-11854826, 11854845-11854872, 11854896, 11854902, 11854907-11854911, 11855174-11855193, 11855231-11855236, 11855262-11855274, 11855322-11855359, 11855395-11855405, 11856275-11856276, 11856280, 11860285-11860286, 11861241-11861243, 11861249-11861252, 11861273, 11861294-11861347, 11861354-11861393, 11861400, 11862989-11862997, 11863020-11863031, 11863094-11863152, 11863159-11863173
12PLOD110.88782051282051245218411994848-11994852, 11994859-11994863, 12010488-12010498, 12012722, 12012758, 12014891-12014919, 12020822-12020824, 12023614, 12023621, 12023632-12023637, 12023663-12023693, 12024235, 12024290-12024292, 12024816-12024842, 12025589, 12025625, 12025635-12025639, 12025645, 12026308-12026352, 12027067, 12030732, 12030756-12030783, 12030830-12030831, 12030834-12030837, 12030843-12030857, 12030861-12030864, 12034848-12034859
13MFN210.9670184696569975227412049234, 12049326, 12061875, 12062052, 12064898, 12064961-12064971, 12065983, 12067110-12067125, 12067146-12067171, 12067297-12067306, 12069677, 12071614, 12071617-12071620
14CTRC10.9913258983891780715772216-15772222
15CLCNKA10.57848837209302870206416349115, 16349173-16349190, 16349194, 16351275, 16351356-16351357, 16351360, 16353071-16353097, 16353236-16353246, 16353256-16353257, 16353805-16353810, 16353837-16353848, 16353883, 16353893-16353930, 16354316-16354336, 16354363-16354397, 16354513-16354529, 16354561-16354569, 16355256-16355258, 16355278-16355283, 16355290, 16355305-16355306, 16355310-16355340, 16355629-16355630, 16355647, 16355668-16355695, 16355713-16355744, 16355774-16355794, 16356248, 16356260, 16356270-16356295, 16356463-16356490, 16356497, 16356512-16356533, 16356547-16356554, 16356566-16356570, 16356956-16357076, 16357094-16357095, 16357099-16357169, 16358205-16358262, 16358271, 16358293-16358330, 16358698-16358786, 16358938-16358958, 16358968-16358970, 16359702, 16359712-16359717, 16359744-16359751, 16360106-16360114, 16360134-16360153
16CLCNKB10.57897286821705869206416370989-16370991, 16370997, 16371051-16371060, 16371067, 16371076-16371087, 16372053-16372069, 16372084-16372085, 16372146, 16372151, 16372155, 16373030-16373058, 16373082, 16373108-16373114, 16373118-16373127, 16374533-16374534, 16374883-16374915, 16375049-16375050, 16375057, 16375061-16375064, 16375629-16375663, 16375704, 16375720, 16375723, 16375736-16375738, 16376128, 16376191, 16377031-16377072, 16377095, 16377372-16377375, 16377378, 16377393, 16377426-16377481, 16377509-16377543, 16377973-16378010, 16378021-16378042, 16378205-16378206, 16378212-16378214, 16378242-16378244, 16378270-16378288, 16378303-16378315, 16378693-16378906, 16380134-16380169, 16380184-16380187, 16380196, 16380200, 16380209, 16380212-16380225, 16380228-16380231, 16380243, 16380252, 16380256, 16381932-16381937, 16381992-16381997, 16382170-16382253, 16382950-16382994, 16383364-16383367, 16383381-16383405
17ATP13A210.71972904318374993354317312723-17312760, 17312769-17312779, 17312782-17312783, 17312792, 17312804-17312827, 17312851-17312853, 17312958-17312960, 17312996-17313016, 17313035-17313096, 17313112-17313123, 17313345-17313348, 17313358-17313405, 17313426-17313448, 17313541-17313642, 17313661-17313690, 17313722, 17313728, 17314702, 17314819, 17314838-17314853, 17314945-17314969, 17316388-17316392, 17316450-17316456, 17316628-17316662, 17318237, 17318240, 17318265-17318266, 17318277-17318316, 17318617-17318624, 17318981-17318997, 17319051, 17319055, 17320126, 17320267-17320283, 17320325-17320330, 17322503-17322523, 17322539-17322552, 17322573, 17322578-17322620, 17322642, 17322649-17322659, 17322888-17322889, 17322899-17322931, 17322961-17322991, 17323515-17323570, 17323583-17323627, 17323651-17323661, 17326506-17326606, 17326622-17326631, 17326741-17326751, 17327006-17327018, 17328542, 17328821-17328823, 17331221, 17332049-17332051, 17338224-17338233
18ALDH4A110.89775413711584173169219199378-19199384, 19200957, 19202917, 19203938-19203946, 19203952-19203968, 19203979-19203984, 19208207-19208211, 19208218-19208238, 19208323-19208333, 19208337-19208339, 19209672-19209692, 19209773-19209776, 19209780, 19209783-19209785, 19209809-19209834, 19209906-19209922, 19212029-19212030, 19215907, 19215918-19215924, 19216506-19216509, 19216595-19216599, 19228995
19PINK110.92382588774341133174620960042-20960045, 20960052-20960079, 20960089-20960124, 20960141-20960174, 20960192-20960198, 20960230, 20960245-20960249, 20960256-20960267, 20960277, 20960282-20960284, 20960393, 20975055
20ALPL10.82412698412698277157521887206, 21887602-21887606, 21889603-21889635, 21889671-21889693, 21889707-21889713, 21890536-21890541, 21890610-21890615, 21890618, 21890665, 21894638-21894662, 21894714-21894731, 21896805-21896847, 21896860-21896867, 21900158-21900172, 21900206-21900215, 21900270-21900272, 21902292, 21902324-21902325, 21902334-21902337, 21903905-21903906, 21903913, 21903924, 21903963-21903973, 21904040-21904086, 21904139-21904141
21HSPG210.7617638129933231391317622149809-22149981, 22150109-22150212, 22150616-22150670, 22150685-22150697, 22150799-22150809, 22150818-22150869, 22151030-22151108, 22151197-22151242, 22151254-22151256, 22151259-22151271, 22154357-22154362, 22154377, 22154389-22154408, 22154545-22154550, 22154554-22154592, 22154613-22154645, 22154774-22154801, 22154815-22154877, 22154891, 22154899, 22154902-22154914, 22154919, 22155328-22155425, 22155436-22155465, 22155489-22155533, 22155547-22155572, 22155876-22155917, 22155948-22156097, 22156487-22156488, 22156496-22156510, 22156519-22156544, 22156583-22156584, 22157508-22157560, 22157956-22157960, 22157972-22157976, 22158036, 22158256-22158257, 22159023-22159025, 22159032-22159035, 22159064, 22159089-22159093, 22159764-22159771, 22159821, 22159967-22160002, 22160018, 22163359-22163407, 22163430, 22163436-22163438, 22163452, 22163456-22163463, 22165348, 22165363-22165380, 22165417-22165423, 22165430, 22165434, 22165443-22165444, 22165454-22165458, 22165474-22165475, 22165492-22165494, 22165901-22165903, 22167594-22167613, 22167655-22167656, 22167659, 22167665-22167679, 22167687-22167778, 22168039-22168051, 22168082-22168119, 22168521-22168561, 22168581, 22168588-22168605, 22168732-22168743, 22168823-22168847, 22169292-22169324, 22169373-22169379, 22169790-22169828, 22169879-22169880, 22169904-22169931, 22170641, 22170665-22170674, 22170721-22170754, 22172610-22172670, 22172675, 22172706, 22172715, 22172723, 22172972-22172975, 22172984-22172988, 22173049, 22173057, 22173084, 22173847-22173869, 22173877-22173918, 22173940-22173952, 22173962-22173971, 22174280-22174282, 22174285, 22174490-22174508, 22174519-22174547, 22175145-22175154, 22175160, 22175168, 22175180-22175188, 22175233-22175234, 22175250-22175255, 22175266, 22175488-22175515, 22176684-22176685, 22176865-22176867, 22176872-22176906, 22176931-22176969, 22178105, 22178329-22178364, 22178397, 22178584-22178596, 22178655-22178656, 22178661-22178669, 22178673-22178677, 22178682-22178685, 22178704-22178711, 22179296, 22179520-22179523, 22179526-22179528, 22180708-22180730, 22180765, 22181136-22181177, 22181196-22181203, 22181389-22181392, 22181410-22181411, 22181420-22181432, 22182040-22182057, 22182144, 22182372-22182373, 22183825-22183830, 22186059-22186105, 22186128, 22186133-22186135, 22186138-22186157, 22186328-22186330, 22186355-22186357, 22186367-22186368, 22186390-22186397, 22186420-22186495, 22186670-22186695, 22186704-22186718, 22188250-22188265, 22188583-22188589, 22190594-22190596, 22190600-22190603, 22191410-22191411, 22191445-22191446, 22191449, 22191452-22191457, 22191482, 22191515, 22191544-22191566, 22191812-22191814, 22191854, 22198752, 22198767, 22198846-22198858, 22199113-22199128, 22199144-22199169, 22199178, 22199493-22199495, 22199506, 22199515, 22199519-22199528, 22199578-22199584, 22200992, 22200996, 22201010-22201011, 22202125-22202126, 22202182, 22202478, 22202521-22202530, 22202865, 22203135, 22205124, 22206600-22206606, 22206856, 22206862-22206871, 22206886, 22206903, 22206997, 22207000-22207004, 22207160-22207191, 22207267, 22207290, 22207985-22207995, 22211096-22211143, 22211152-22211167, 22211362-22211367, 22211605-22211650, 22211858, 22211861, 22211914, 22213734-22213736, 22213739-22213755, 22213955, 22214043, 22214441, 22214445, 22214449, 22216523-22216529, 22216920-22216930, 22217104-22217151, 22263648-22263710
22WNT410.77462121212121238105622446660-22446661, 22446676-22446718, 22446741, 22446848-22446868, 22446889-22446902, 22446905, 22447006-22447010, 22456115-22456125, 22456177-22456196, 22456217-22456222, 22456281-22456290, 22456318-22456344, 22469339-22469415
23GALE10.9866284622731614104724124260, 24124264-24124276
24HMGCL10.920245398773017897824134660, 24134670-24134672, 24134721-24134725, 24134746, 24134752-24134755, 24134759, 24137226, 24137230, 24140759, 24151846-24151905
25FUCA110.71948608137045393140124175176-24175208, 24180854-24180882, 24181041, 24186299-24186327, 24186340, 24186373-24186393, 24189724, 24192010, 24192113, 24194389-24194401, 24194419, 24194423-24194440, 24194451-24194534, 24194565, 24194600-24194739, 24194755, 24194759-24194776
26LDLRAP110.978425026968722092725870209-25870213, 25870274-25870277, 25889632, 25893441-25893450
27SEPN110.85971223021583234166826126722-26126904, 26131720, 26135165-26135190, 26135542, 26136195-26136199, 26136202-26136204, 26136288-26136298, 26138262, 26139277, 26140573, 26140576
28YARS10.9930686830497811158733241582-33241592
29COL9A210.9927536231884115207040769208-40769216, 40769614, 40769618, 40782839-40782842
30KCNQ410.80028735632184417208841249766-41249829, 41249840-41249849, 41249858-41250061, 41250074, 41283932-41283938, 41284188-41284205, 41284245, 41284256-41284264, 41284285, 41284295-41284307, 41284333, 41285025, 41289815-41289857, 41296771, 41296891-41296893, 41296964-41296976, 41300709-41300711, 41300716-41300718, 41300723, 41300726, 41303999-41304015, 41304029, 41304038
31CLDN1910.979259259259261467543201555-43201559, 43201562, 43201565, 43205532-43205538
32LEPRE110.9796472184531945221143232361, 43232364-43232366, 43232449-43232466, 43232502-43232510, 43232512-43232513, 43232599-43232605, 43232613-43232617
33SLC2A110.996619337390135147943408921, 43424305-43424306, 43424319-43424320
34UROD10.999094202898551110445478879
35MMACHC10.99764428739694284945974828-45974829
36POMGNT110.89409984871407210198346659255, 46659527-46659547, 46660270, 46660281-46660298, 46661483-46661485, 46661547-46661560, 46661564-46661566, 46661569, 46662403-46662421, 46662466, 46662511-46662521, 46662646-46662670, 46662711-46662747, 46663408-46663447, 46663458-46663467, 46663476-46663480
37STIL10.999741401603311386747737810
38PCSK910.89321789321789222207955505546-55505558, 55509658, 55512229, 55517951-55517955, 55517993-55518008, 55518079-55518080, 55518083, 55521666-55521786, 55521834-55521847, 55523068, 55523763, 55523770-55523772, 55523864-55523870, 55523875, 55523879, 55524197-55524208, 55524220-55524225, 55524237, 55524241, 55524295, 55525285, 55525293-55525303, 55527158
39COL11A110.99670148433205185457103364255, 103364264, 103364271-103364286
40GSTM110.64079147640791236657110230496-110230531, 110230807-110230813, 110230839, 110230854, 110231295-110231296, 110231300-110231304, 110231312, 110231677-110231696, 110231711-110231734, 110231750-110231751, 110231901-110231947, 110232905-110232915, 110232948-110232988, 110233087-110233123, 110233138
41NOTCH210.98732470334412947416120539668, 120539691, 120539711, 120548013-120548062, 120548091-120548097, 120572544-120572575, 120572609-120572610
42PRPF310.97612085769981492052150305168, 150305538-150305542, 150307531-150307542, 150310719-150310732, 150315826-150315830, 150325438-150325440, 150325447-150325455
43FLG10.89963892991958122312186152276276, 152276285-152276287, 152276328, 152276345-152276380, 152276403-152276404, 152276568-152276631, 152276643-152276649, 152276686-152276702, 152276715-152276742, 152276761-152276762, 152276777, 152276782, 152276797-152276801, 152276823, 152276827-152276828, 152276831, 152276844, 152276848, 152276855, 152276865, 152276871, 152276886-152276895, 152276907, 152277014, 152277027, 152277035, 152277044, 152277121, 152277137, 152277149, 152277159, 152277168, 152277396, 152277431-152277437, 152277509-152277515, 152277551-152277557, 152277590, 152277693-152277720, 152278231-152278250, 152278431-152278437, 152278481-152278487, 152278591-152278598, 152278689, 152279199-152279222, 152279374, 152279453-152279459, 152279612-152279618, 152279742-152279763, 152279778-152279784, 152279841, 152279848, 152279984-152279991, 152280149-152280153, 152280173-152280174, 152280274, 152280288-152280296, 152280342-152280375, 152280531-152280562, 152280682-152280725, 152280733-152280762, 152280864, 152281009, 152281145-152281149, 152281257-152281263, 152281314-152281328, 152281397-152281398, 152281476-152281494, 152281559-152281581, 152281688-152281710, 152281862-152281880, 152282098, 152282183-152282190, 152282241-152282246, 152282267-152282296, 152282377-152282421, 152282541, 152282544, 152282562, 152283089-152283120, 152283148, 152283263, 152283271-152283280, 152283291, 152283367, 152283501, 152283512-152283522, 152283799, 152283862, 152283909-152283981, 152284072-152284106, 152284171-152284206, 152284242-152284245, 152284358-152284364, 152284420-152284427, 152284459-152284481, 152284538-152284553, 152284711, 152284714, 152284750, 152284753, 152284803-152284817, 152284939-152284964, 152285020, 152285041-152285049, 152285091-152285102, 152285148, 152285181, 152285218-152285219, 152285569-152285570, 152285666-152285674, 152285809-152285825, 152285927-152285933, 152285967-152285982, 152286002, 152286065-152286076, 152286126-152286141, 152286161-152286227, 152286429-152286436, 152286856
44CHRNB210.9741550695825391509154544079-154544081, 154544184-154544185, 154544359-154544375, 154544378-154544386, 154544389, 154544393-154544398, 154544426
45DPM310.978319783197838369155112797-155112804
46GBA10.873015873015871521197155184159-155184172, 155184210-155184211, 155184227, 155184242, 155184359-155184385, 155184391-155184396, 155184416, 155184888-155184894, 155185426-155185432, 155186189-155186201, 155186315, 155186376-155186377, 155186652-155186691, 155186699-155186714, 155186729, 155186742, 155187141-155187147, 155187788, 155188182, 155188252-155188254
47GBA10.9962756052141561611155204786-155204788, 155204837-155204838, 155205067
48PKLR10.9768115942029401725155269977-155270001, 155270033-155270043, 155270067, 155271087, 155271123, 155271126
49LMNA10.9770723104056413567156105752, 156105756-156105758, 156105811-156105813, 156105817, 156106006-156106010
50LMNA10.98997493734336201995156105752, 156105756-156105758, 156105811-156105813, 156105817, 156106006-156106010, 156108288-156108294
51NTRK110.92890004182351702391156830727-156830777, 156830786-156830839, 156830915, 156834156-156834162, 156843446, 156843607, 156843673-156843676, 156844175-156844183, 156845386, 156846260-156846271, 156846320-156846323, 156851309-156851333
52NDUFS210.9949712643678271392161176365-161176371
53MPZ10.994851994851994777161279674-161279677
54F510.99475655430712356675169510337-169510370, 169510475
55DARS210.938080495356041201938173795871-173795872, 173803617-173803623, 173806106-173806108, 173810023, 173814367-173814383, 173819483-173819565, 173819596-173819602
56NPHS210.9956597222222251152179544879-179544880, 179544893-179544895
57LHX410.9991474850809911173180235634
58NCF210.9968374446552851581183532348-183532352
59CFH10.98647186147186503696196715005-196715011, 196716353-196716395
60CFHR110.997985901309162993196801042, 196801078
61CACNA1S10.997154037709165622201052441, 201081346, 201081349-201081360, 201081449-201081450
62PKP110.96423658872077782181201282342, 201282352-201282353, 201282491-201282493, 201282547, 201282611, 201282676-201282682, 201292194-201292223, 201294212-201294243, 201294918
63TNNT210.9718468468468525888201332528, 201333470-201333476, 201333487-201333503
64CHIT110.99428979300581401203192356-203192363
65PSEN210.96881959910913421347227069712, 227071525, 227071561-227071600
66ADCK310.597222222222227831944227149087-227149099, 227149246, 227152734-227152740, 227152752, 227152786-227152950, 227152962-227152963, 227152970-227152979, 227152989, 227153001, 227153025-227153067, 227153078-227153111, 227153372-227153394, 227153415-227153438, 227169730, 227169744-227169746, 227169753-227169773, 227169779-227169802, 227169813-227169850, 227170392-227170410, 227170439-227170456, 227170463-227170464, 227170631-227170735, 227171266, 227171312-227171331, 227171468, 227171473-227171498, 227171506-227171530, 227171537, 227171541-227171542, 227171795-227171799, 227171802-227171803, 227171847-227171884, 227171920-227171929, 227172249, 227172341, 227172344-227172347, 227172619-227172625, 227172955-227172967, 227172997, 227173000-227173004, 227174161-227174177, 227174185-227174217, 227174284-227174286, 227174345, 227174362, 227174400, 227174431-227174438
67GJC210.2136363636363610381320228345460, 228345532, 228345574, 228345578-228345608, 228345635-228345670, 228345673-228345676, 228345682-228345694, 228345704-228345878, 228345886, 228345889, 228345902-228346027, 228346033-228346120, 228346129-228346460, 228346477-228346489, 228346508-228346512, 228346521-228346668, 228346682, 228346701-228346733, 228346738-228346755, 228346766-228346775
68ACTA110.820105820105822041134229567310-229567315, 229567373-229567376, 229567620-229567627, 229567633, 229567804-229567820, 229567843-229567872, 229567896, 229567917-229567932, 229568017-229568051, 229568070-229568100, 229568165-229568171, 229568383-229568386, 229568441-229568463, 229568609-229568627, 229568782, 229568792
69LYST10.99982465369104211406235826299-235826300
70ACTN210.98324022346369452685236850011-236850044, 236850080-236850086, 236908002-236908005
71RYR210.99879227053141814904237729967-237729984
72NET1100.99944165270798117915454708
73GATA3100.988014981273411613358097678-8097684, 8100548, 8100703, 8100728, 8100732-8100737
74OPTN100.9861591695501724173413151241-13151264
75PHYH100.9705014749262530101713325718-13325726, 13330399, 13330402, 13337586-13337592, 13341981-13341989, 13342016-13342017, 13342021
76PTF1A100.6788247213779131798723481516-23481521, 23481633-23481674, 23481687-23481689, 23481697-23481703, 23481718-23481719, 23481721, 23481737, 23481741-23481784, 23481796-23481888, 23481891-23481953, 23481959-23481977, 23482047, 23482059-23482076, 23482114-23482118, 23482144-23482147, 23482163, 23482168-23482170, 23482227, 23482233-23482235
77MASTL100.997345468335237263727469954, 27470446-27470449, 27470472, 27475444
78RET100.89357249626308356334543572707-43572779, 43595927, 43595968, 43596036-43596041, 43596066-43596067, 43596091-43596122, 43597936, 43597944-43597945, 43598068-43598077, 43600420, 43600489-43600534, 43600568, 43600578-43600580, 43600587-43600611, 43601824, 43601839, 43601844-43601859, 43601985, 43601990, 43601995, 43601998-43601999, 43604536, 43604675, 43606743, 43606860-43606867, 43606890, 43606893-43606909, 43607599, 43608397, 43608411, 43609934, 43610011, 43610147-43610148, 43613907, 43615013-43615019, 43615047-43615058, 43615062, 43615073, 43615076, 43615081, 43615089, 43615109-43615126, 43615133-43615160, 43615173-43615193, 43619218
79ERCC6100.9895136099955447448250740589-50740601, 50740654-50740660, 50740807-50740833
80CHAT100.9679572763684972224750822265-50822293, 50822362, 50822365-50822379, 50822406-50822410, 50822495-50822508, 50857664-50857671
81EGR2100.9839273235499723143164573325-64573341, 64573363, 64573487-64573489, 64573498-64573499
82NODAL100.9626436781609239104472201357-72201364, 72201370-72201390, 72201398-72201406, 72201423
83PRF1100.9664268585131956166872358248-72358276, 72358313-72358320, 72358423-72358438, 72358649, 72360419-72360420
84SLC29A3100.999299719887961142873121945
85CDH23100.930389817024667001005673434910-73434912, 73437437-73437450, 73439190, 73439201-73439203, 73439216-73439239, 73442234, 73442237-73442244, 73442307, 73442327, 73455261-73455276, 73461893-73461943, 73462306, 73462319-73462352, 73462370-73462372, 73462430-73462441, 73464681, 73464686-73464690, 73464695-73464701, 73464725-73464732, 73464737, 73464747-73464817, 73464839-73464847, 73464868-73464887, 73466654-73466660, 73466724, 73466741, 73466744, 73466798-73466806, 73468857, 73468868, 73472493, 73472536, 73472540, 73490239, 73490270-73490349, 73491747-73491768, 73491923, 73491946-73491948, 73492017-73492023, 73494097, 73498266-73498271, 73498322-73498327, 73499474-73499480, 73500651, 73501533-73501559, 73501622-73501647, 73501676, 73537492-73537528, 73538025-73538063, 73544760-73544766, 73550065-73550067, 73550918-73550920, 73550953-73550955, 73550961-73550973, 73569815-73569821, 73570229, 73571109, 73572278-73572294, 73572360-73572366, 73572538, 73572545-73572567, 73574854-73574876, 73574914-73574920
86PSAP100.9796825396825432157573579478-73579496, 73579545-73579556, 73579567
87VCL100.9926578560939825340575873960-75873984
88MAT1A100.999158249158251118882036280
89LDB3100.79166666666667455218488428449-88428484, 88428509-88428535, 88439893, 88439896, 88441209-88441220, 88441245-88441249, 88441323-88441328, 88441364-88441370, 88441454, 88441551-88441554, 88451699-88451706, 88451794-88451797, 88451800, 88451804-88451808, 88452292, 88466299-88466375, 88466385-88466433, 88466462-88466476, 88469662, 88469668-88469670, 88469678, 88469714, 88469796-88469800, 88469806-88469807, 88476084-88476106, 88476152-88476166, 88476216, 88476218-88476269, 88476308-88476326, 88476375-88476416, 88476442-88476443, 88476446-88476455, 88476479-88476494, 88476499-88476500
90GLUD1100.9481216457960687167788822413-88822414, 88834366, 88836362-88836368, 88854420-88854459, 88854480-88854496, 88854507-88854526
91PLCE1100.999131567520636690996006360-96006365
92HPS1100.952516619183291002106100177337, 100177346-100177349, 100177356-100177432, 100177952, 100177955, 100177958-100177973
93ABCC2100.999784389823214638101606766
94CPN1100.9963689179375551377101802253, 101802273-101802276
95PAX2100.99230177059276101299102509575-102509579, 102509631, 102509653-102509656
96FBXW4100.97982243744956251239103371140-103371152, 103371458, 103371477-103371481, 103371525, 103454378-103454380, 103454383-103454384
97HPS6100.94630584192441252328103825273-103825289, 103825324-103825346, 103825378-103825392, 103825434-103825459, 103825492-103825494, 103825683, 103825686-103825688, 103825697-103825726, 103825808, 103825812, 103826067-103826069, 103827445-103827446
98SUFU100.96357388316151531455104263980-104264008, 104309854-104309861, 104356997-104357005, 104359218-104359224
99CYP17A1100.96005239030779611527104590589, 104590622-104590644, 104590658, 104590661-104590665, 104592274-104592279, 104592338-104592347, 104593809-104593819, 104597017-104597020
100COL17A1100.99087672452158414494105794017, 105794052-105794061, 105816811-105816818, 105816821-105816824, 105816896-105816912, 105817933
101HABP2100.9958407605466471683115341799-115341805
102EMX2100.993412384716735759119302938-119302940, 119302953, 119302997
103BAG3100.892939814814811851728121411188-121411209, 121411216-121411228, 121411244-121411293, 121411305-121411335, 121411343-121411367, 121429596, 121431777, 121432038-121432040, 121436012-121436015, 121436235, 121436433-121436456, 121436477, 121436729-121436736, 121436772
104ARMS2100.9660493827160511324124214257-124214260, 124214265-124214270, 124214495
105HTRA1100.744282744282743691443124221169-124221174, 124221186-124221449, 124221474-124221475, 124221486-124221516, 124221550-124221551, 124221562-124221565, 124221574-124221580, 124221588-124221632, 124266225-124266232
106OAT100.99015151515152131320126097111-126097112, 126097133-126097135, 126097383, 126100589-126100595
107UROS100.9248120300751960798127477437-127477488, 127477531-127477533, 127477538-127477540, 127477544-127477545
108HRAS110.1513570532636-532755, 533453-533481, 533495-533574, 533588-533612, 533766, 533787-533913, 533925-533944, 534212-534322
109TALDO1110.577909270216964281014747482-747578, 755926-755927, 755937, 755970-755972, 758970-758973, 760122-760125, 760165, 763344-763424, 763444-763491, 763508-763516, 763519, 763754-763801, 763850, 763860-763944, 764306, 764313-764315, 764318-764321, 764344-764349, 764359-764365, 764401-764404, 764414, 764813-764829
110SLC25A22110.13168724279835844972791915-791954, 791962-792011, 792026-792068, 792151-792217, 792321-792458, 792553-792727, 792870-792988, 793529-793596, 793604-793619, 794476-794487, 794494-794513, 794776-794789, 794809-794854, 794880-794883, 794890-794901, 794987-795006
111PNPLA2110.3102310231023110451515819719-819905, 821630-821657, 821709-821744, 821750-821755, 821802-821841, 821856-821860, 821958, 821978-821993, 822001-822004, 822514, 822520-822522, 822556-822577, 822596-822606, 823527-823587, 823694-823728, 823745, 823755, 823777-823855, 823998-824076, 824093-824105, 824110, 824112-824127, 824130, 824314-824376, 824385-824436, 824523-824693, 824711-824712, 824716-824729, 824749-824768, 824771-824791, 824800-824806, 824815-824862
112CTSD110.2171105730427897012391774742-1774793, 1774813-1774900, 1775033-1775078, 1775088-1775131, 1775224-1775227, 1775245-1775368, 1776140-1776142, 1778558-1778651, 1778661-1778669, 1778676-1778678, 1778685, 1778705-1778740, 1778763, 1778774-1778786, 1780199-1780317, 1780746-1780869, 1782539-1782601, 1782608-1782640, 1782645, 1782655-1782698, 1785022-1785089
113TNNI2110.369763205828783465491861633-1861674, 1861758-1861760, 1861763-1861789, 1861807-1861851, 1861885-1861886, 1862049-1862122, 1862261-1862291, 1862324-1862378, 1862384, 1862390, 1862404-1862422, 1862425-1862433, 1862699-1862726, 1862768-1862771, 1862777-1862781
114TNNT3110.010296010296017697771944105-1944115, 1944121, 1944278-1944291, 1944785-1944799, 1946329-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953699-1953744, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955885, 1956059-1956149, 1958193-1958233, 1959668-1959722
115H19110.7507002801120426710712017110, 2017222, 2017420-2017421, 2017577-2017578, 2017638, 2017748-2017766, 2017788-2017860, 2018005, 2018052-2018064, 2018070-2018094, 2018103-2018143, 2018164-2018181, 2018215-2018218, 2018224-2018229, 2018232-2018237, 2018273-2018291, 2018344-2018378
116IGF2110.149085794655416057112154217-2154297, 2154320-2154437, 2154752, 2154766-2154819, 2154829-2154895, 2156597-2156608, 2156630-2156722, 2156729-2156759, 2161365-2161368, 2161383-2161526
117TH110.012698412698413155515752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189409, 2189721-2189895, 2190880-2191101, 2191920-2192000, 2192927-2192996
118KCNQ1110.5878877400295483720312466329-2466578, 2466592-2466714, 2591858-2591879, 2591899-2591901, 2591907-2591944, 2591980-2591984, 2592555-2592633, 2593243-2593292, 2593298-2593339, 2594076-2594090, 2594100-2594140, 2594155-2594158, 2594169-2594193, 2594197, 2594216, 2604682-2604702, 2604711-2604737, 2604755, 2604758-2604763, 2604768, 2604771-2604775, 2606473, 2608858-2608860, 2608888, 2608898-2608922, 2609943-2609950, 2609989-2610020, 2799230-2799236
119CDKN1C110.0557308096740278989512905234-2905259, 2905276-2905294, 2905317-2905364, 2905900-2906548, 2906563-2906658, 2906660-2906719
120SMPD1110.989978902953591918966411931-6411949
121ABCC8110.97787610619469105474617414665-17414671, 17415306, 17417476-17417477, 17419279, 17419282-17419285, 17491688, 17491752-17491769, 17496516, 17496520-17496521, 17496562-17496574, 17498185-17498196, 17498254-17498293, 17498317, 17498320-17498321
122USH1C110.9844444444444442270017517189, 17530905-17530906, 17530955-17530985, 17531039, 17531303-17531309
123WT1110.77863577863578344155432417921-32417922, 32449502-32449519, 32449602-32449604, 32456306-32456331, 32456346-32456371, 32456397-32456401, 32456433-32456440, 32456481-32456528, 32456553-32456555, 32456579-32456606, 32456615-32456630, 32456649, 32456652-32456663, 32456671-32456716, 32456720, 32456723, 32456726-32456734, 32456746, 32456750, 32456767-32456799, 32456809-32456864
124ALX4110.9894822006472513123644286512-44286519, 44331277-44331281
125SLC35C1110.84090909090909168105645827408, 45827412-45827439, 45827452-45827453, 45827523-45827524, 45827558-45827601, 45827625, 45827629-45827630, 45827714, 45827717, 45827826-45827849, 45827885-45827887, 45832327, 45832418-45832428, 45832478, 45832484-45832487, 45832561, 45832566, 45832571-45832573, 45832582, 45832686-45832706, 45832741, 45832822-45832835
126PEX16110.87896253602305126104145931657-45931675, 45931699-45931701, 45931706, 45931724, 45935423-45935429, 45935907, 45935917-45935934, 45935945-45935949, 45935961-45935962, 45937070-45937080, 45937352-45937383, 45939024, 45939252-45939257, 45939265-45939279, 45939291, 45939302-45939303, 45939341
127F2110.76565008025682438186946740835, 46740839-46740840, 46741263-46741276, 46741279-46741291, 46741300-46741317, 46741324, 46741329-46741330, 46741387-46741412, 46742351-46742354, 46742360-46742361, 46744730, 46744738, 46744744, 46744813, 46744817-46744818, 46744821-46744828, 46744974, 46745003-46745059, 46747443-46747477, 46747491-46747508, 46747528, 46747543-46747575, 46747608-46747616, 46747629-46747661, 46747677-46747690, 46748048-46748073, 46748117-46748125, 46748128, 46748132, 46748261-46748269, 46748285-46748298, 46748361-46748372, 46749576-46749602, 46749645-46749654, 46750330-46750346, 46750371-46750384
128MADD110.9933252427184533494447296629, 47306036, 47306497-47306523, 47311037-47311038, 47311041, 47311472
129MYBPC3110.83084967320261647382547353625, 47353640-47353642, 47353652, 47353679-47353698, 47353719-47353721, 47354133-47354149, 47354175, 47354185-47354192, 47354771-47354773, 47356593-47356598, 47356710-47356714, 47356730-47356732, 47360153-47360165, 47364191, 47364623, 47364626-47364629, 47367796-47367839, 47367881-47367921, 47368981-47368988, 47368990-47368992, 47369003, 47369019, 47369408-47369427, 47369443, 47369452-47369456, 47369975-47369978, 47369996-47370044, 47370054-47370084, 47371333-47371334, 47371339-47371349, 47371357, 47371360, 47371397-47371404, 47371444, 47371449-47371473, 47371565-47371568, 47371578-47371596, 47371604-47371618, 47371638-47371663, 47372058-47372166, 47372790-47372796, 47372815-47372845, 47372859-47372869, 47372874, 47372914-47372953, 47372974-47372990, 47373016-47373018, 47373046-47373056, 47374193-47374198
130SLC39A13110.7741935483871252111647431701-47431703, 47431744-47431778, 47431787-47431832, 47433925-47433929, 47433993, 47434951, 47434986, 47435006-47435009, 47435222-47435237, 47435976-47436004, 47436025-47436026, 47436346-47436363, 47436427-47436459, 47436592-47436603, 47436606-47436608, 47436679-47436710, 47436861-47436871
131RAPSN110.75544794188862303123947459526-47459585, 47460283-47460297, 47460306, 47460326, 47460344-47460346, 47460377-47460396, 47460439-47460482, 47462758-47462763, 47463208, 47463220, 47463261-47463275, 47463409, 47463414-47463419, 47463428-47463429, 47463442-47463460, 47464233, 47464249-47464250, 47469439, 47469489-47469490, 47469529, 47469601-47469607, 47469701-47469702, 47470326-47470352, 47470356-47470360, 47470371, 47470414-47470460, 47470470, 47470478, 47470481-47470490
132NDUFS3110.939622641509434879547600644, 47600646-47600648, 47600656, 47600854-47600878, 47603698-47603705, 47603736, 47603956-47603957, 47605965-47605971
133SERPING1110.996007984031946150357381813-57381817, 57381989
134BEST1110.9817974971558632175861723367-61723389, 61727488-61727496
135ROM1110.9441287878787959105662380778-62380796, 62380816-62380849, 62381045, 62381059, 62381064, 62381070, 62381960, 62381970
136BSCL2110.9928005759539210138962469965-62469969, 62472929-62472932, 62472944
137SLC22A12110.50842358604091817166264359054-64359143, 64359149-64359196, 64359216-64359217, 64359225, 64359240, 64359283-64359324, 64359335, 64359344-64359376, 64359405, 64359418-64359419, 64360251-64360259, 64360283, 64360310, 64360313-64360333, 64360337, 64360879-64360884, 64360928-64360937, 64360944, 64361000-64361031, 64361107-64361125, 64361165-64361227, 64361253-64361254, 64365999-64366013, 64366028, 64366280-64366300, 64366303-64366314, 64366345-64366352, 64366362-64366384, 64367148-64367329, 64367346-64367362, 64367839-64367885, 64367916-64367925, 64368207-64368221, 64368247-64368264, 64368279-64368300, 64368320-64368336, 64368339-64368344, 64368348, 64368960-64368974
138PYGM110.70106761565836756252964518814-64518816, 64518825-64518829, 64518852-64518853, 64518904-64518910, 64519906, 64519909-64519914, 64519950-64519951, 64520545-64520547, 64520557-64520593, 64520604, 64520617-64520659, 64521008-64521049, 64521077, 64521087-64521154, 64521365-64521403, 64521410, 64521414-64521416, 64521433-64521476, 64521489, 64521725-64521803, 64522177-64522194, 64522272-64522296, 64522305-64522308, 64522767, 64522792-64522815, 64522969, 64523001, 64523021-64523030, 64525251-64525274, 64525291, 64525294, 64525302-64525305, 64525347-64525358, 64525745-64525751, 64525758, 64525762-64525763, 64525782, 64525799, 64525802, 64525820-64525821, 64525947-64525952, 64525978-64525987, 64526086-64526091, 64526114-64526163, 64526172-64526176, 64527142-64527206, 64527225-64527239, 64527246-64527247, 64527271-64527308, 64527328, 64527335-64527363
139MEN1110.79166666666667385184864571827, 64571831-64571837, 64571844, 64572005, 64572013, 64572018, 64572062-64572068, 64572119-64572122, 64572155-64572174, 64572189, 64572193, 64572210, 64572230-64572261, 64572280, 64572529, 64572540-64572561, 64572569-64572584, 64572587-64572620, 64572647-64572649, 64572652-64572658, 64573129, 64573149-64573153, 64573156-64573172, 64573178, 64573197-64573219, 64573225-64573229, 64573789, 64573800-64573801, 64573806, 64575026-64575045, 64575451, 64577137-64577159, 64577171-64577176, 64577226-64577248, 64577365-64577397, 64577487-64577509, 64577526-64577528, 64577533, 64577536-64577558, 64577571-64577581
140EFEMP2110.89864864864865135133265634509, 65635426-65635429, 65635469-65635515, 65637415, 65637418-65637419, 65637624-65637640, 65637702, 65637706-65637708, 65638011-65638026, 65638118, 65638802-65638804, 65639773-65639792, 65639800-65639813, 65639821-65639825
141CST6110.7466666666666711445065779520, 65779536-65779556, 65779579-65779589, 65779597, 65779743, 65779750, 65780328-65780338, 65780341-65780342, 65780345-65780348, 65780362-65780422
142BBS1110.999438832772171178266281890
143SPTBN2110.94256238672801412717366467014, 66467997-66468006, 66468133-66468142, 66468181, 66468238-66468246, 66468259, 66468269-66468278, 66468297, 66468301-66468308, 66468338-66468356, 66468396, 66468492, 66468523-66468540, 66468543, 66468635-66468646, 66468671-66468708, 66468729-66468753, 66469111-66469147, 66472174-66472178, 66472185-66472188, 66472262-66472263, 66472398, 66472583-66472587, 66472591-66472593, 66472609-66472633, 66472686-66472710, 66472757, 66473201-66473203, 66473232, 66473235, 66473239-66473241, 66473244, 66473251-66473254, 66473302, 66474993-66475008, 66475057, 66475068, 66475159-66475163, 66475198, 66475231-66475235, 66475247-66475263, 66475616, 66475651-66475656, 66475665-66475676, 66475683-66475688, 66475751-66475770, 66476456, 66478139, 66478142, 66478211, 66478237-66478239, 66481787-66481797, 66483322-66483335, 66483365
144PC110.546508340401471604353766616374-66616388, 66616436-66616480, 66616509-66616550, 66616568, 66616572-66616575, 66616578-66616591, 66616767-66616814, 66616831, 66617111-66617149, 66617192-66617207, 66617252-66617253, 66617255, 66617259-66617275, 66617323-66617330, 66617408-66617421, 66617437-66617440, 66617499, 66617539-66617554, 66617582, 66617586, 66617697-66617732, 66617748-66617771, 66617779-66617780, 66617923, 66617932-66617935, 66618180-66618208, 66618251-66618278, 66618330-66618353, 66618372-66618392, 66618523-66618560, 66618588-66618589, 66618605-66618606, 66618611, 66618695-66618713, 66618740-66618749, 66619364, 66619368, 66619373-66619386, 66619910-66619936, 66619949-66619967, 66619975, 66620005-66620053, 66620070-66620131, 66620232-66620242, 66620745-66620749, 66620755, 66620778-66620781, 66620830-66620843, 66631245-66631280, 66631295-66631299, 66631321, 66631360-66631361, 66631371, 66631381-66631427, 66633661, 66633672-66633690, 66633698-66633711, 66633723-66633726, 66633734-66633757, 66633775, 66633800-66633820, 66636317-66636331, 66636341, 66636390-66636391, 66636403-66636435, 66637775-66637846, 66637861-66637867, 66637911-66637914, 66637919-66637923, 66638246-66638254, 66638262-66638301, 66638312-66638363, 66638523-66638526, 66638540-66638555, 66638562-66638604, 66638626-66638668, 66638794-66638951, 66639158-66639200, 66639210-66639218, 66639221-66639229, 66639250-66639330, 66639495-66639511, 66639543-66639559, 66639594, 66639618, 66639625-66639630
145CABP4110.3599033816425153082867222895, 67222914-67222972, 67222984-67223026, 67223052-67223130, 67223136, 67223157, 67223165, 67223168-67223171, 67223180-67223260, 67223659-67223665, 67223801-67223871, 67223881-67223913, 67225055-67225085, 67225110-67225143, 67225842, 67225877-67225894, 67225900-67225931, 67225940-67225952, 67225960-67225964, 67225980-67225984, 67226102-67226108, 67226119-67226120, 67226123
146AIP110.185297079556980999367250630-67250633, 67254477-67254538, 67254556, 67254566-67254574, 67254581-67254582, 67254595-67254611, 67256738-67256926, 67257509-67257685, 67257787-67257928, 67258259-67258464
147NDUFV1110.9827956989247324139567374503-67374504, 67374518, 67376045-67376049, 67376137, 67376144-67376146, 67379895-67379906
148NDUFS8110.2243285939968449163367799637-67799676, 67799753-67799764, 67799770-67799803, 67800390-67800421, 67800445-67800447, 67800452-67800467, 67800477-67800479, 67800578-67800731, 67803720-67803758, 67803776-67803778, 67803785-67803804, 67803816-67803817, 67803821-67803827, 67803831-67803848, 67803929-67803938, 67803949-67803950, 67803957-67803996, 67804005-67804060
149TCIRG1110.372242278379461565249367808739-67808839, 67808851-67808855, 67809220-67809265, 67809294, 67810110-67810326, 67810413-67810449, 67810459-67810498, 67810838-67810857, 67810890-67810917, 67810932-67810964, 67811038-67811071, 67811077-67811111, 67811294, 67811307-67811374, 67811599-67811689, 67811694, 67811699, 67811712-67811811, 67812487-67812493, 67812515-67812562, 67814900-67814901, 67814920, 67814952-67814980, 67814988, 67815004-67815031, 67815114-67815117, 67815162-67815164, 67815204, 67815210-67815212, 67815253-67815257, 67815270-67815271, 67815349-67815356, 67815367-67815370, 67815404-67815408, 67816357-67816412, 67816443-67816464, 67816548-67816555, 67816561-67816563, 67816571-67816583, 67816600, 67816608-67816611, 67816620-67816622, 67816627, 67816641, 67816658-67816672, 67816692-67816749, 67816751-67816761, 67817130-67817244, 67817429-67817439, 67817463-67817511, 67817604-67817640, 67817665-67817679, 67817687-67817721, 67817971, 67817984-67818046, 67818064-67818065, 67818072-67818084, 67818093-67818110
150LRP5110.83663366336634792484868080183-68080273, 68115345-68115351, 68115357-68115359, 68115366, 68115627-68115635, 68115668-68115677, 68115710-68115711, 68125172-68125179, 68125288-68125297, 68131215-68131217, 68131234-68131301, 68131326, 68131338, 68131353-68131411, 68133039-68133041, 68133140, 68153799, 68153803, 68153875-68153877, 68153889, 68153903, 68153925-68153936, 68153947-68153948, 68154000, 68154039-68154041, 68154046, 68171127-68171159, 68174082, 68174240-68174241, 68177382-68177394, 68177438, 68179083-68179088, 68181354, 68181463, 68183954-68183960, 68192624, 68192637-68192650, 68201155-68201161, 68201221-68201257, 68201269, 68201302-68201306, 68204380-68204391, 68204414-68204433, 68204439, 68204446-68204466, 68205932-68205983, 68205997-68206003, 68206025-68206062, 68206136, 68207245-68207253, 68207258, 68207262, 68207271, 68207327-68207345, 68207355, 68207359-68207360, 68207367, 68207372-68207384, 68213931, 68213947-68213954, 68213959-68213980, 68216277-68216320, 68216348-68216365, 68216404-68216413, 68216429, 68216439-68216449, 68216453, 68216458-68216460, 68216467, 68216486-68216524
151IGHMBP2110.79476861167002612298268671421-68671491, 68671499-68671503, 68673561-68673562, 68673576, 68673615-68673616, 68673621, 68673626-68673628, 68682404, 68696675-68696714, 68696732-68696778, 68700767-68700780, 68700840-68700858, 68700863, 68700924, 68700927, 68701300-68701319, 68701346-68701355, 68701932-68701944, 68701947, 68701954-68701960, 68701965-68701977, 68702008, 68702011, 68702767-68702771, 68702785-68702786, 68702802-68702820, 68702866, 68703751-68703759, 68703762-68703765, 68703768-68703770, 68703971-68703977, 68703997-68704037, 68704046-68704086, 68704094-68704095, 68704106-68704125, 68704187-68704191, 68704218-68704225, 68704245-68704267, 68704316-68704319, 68704334-68704335, 68704348-68704349, 68704358-68704362, 68704388-68704391, 68704396-68704411, 68704418-68704419, 68704426-68704427, 68704468, 68704504-68704543, 68705656-68705665, 68705674-68705677, 68705680-68705686, 68705693, 68705704, 68705707, 68705776, 68705805-68705806, 68705821, 68707017-68707055, 68707120, 68707147
152DHCR7110.965686274509849142871146446-71146448, 71146577, 71146595-71146596, 71146652, 71146665-71146668, 71146677-71146705, 71146879, 71149980-71149987
153MYO7A110.669675090252712196664876841693, 76841697, 76858852-76858937, 76858962-76858983, 76858995-76858996, 76866989, 76867086, 76867089, 76867110-76867137, 76867787-76867827, 76867988-76867991, 76868000, 76868010-76868012, 76868015, 76869367, 76869375, 76869379, 76873209-76873217, 76873309, 76873315, 76873352, 76873354-76873357, 76874018-76874022, 76883812, 76883823-76883834, 76883838-76883854, 76883864, 76883867, 76883874, 76883880-76883896, 76883904-76883910, 76883923-76883929, 76885802-76885894, 76885901-76885949, 76886418, 76886427-76886486, 76886505-76886510, 76888595-76888682, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892632, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895688, 76895700-76895728, 76895741-76895755, 76900390-76900391, 76900399-76900447, 76900458-76900515, 76901065-76901077, 76901119-76901183, 76901747-76901757, 76901790-76901826, 76901850-76901857, 76901863-76901868, 76903096-76903102, 76903113-76903150, 76903165-76903166, 76903208-76903218, 76903250-76903257, 76903265-76903311, 76905422-76905425, 76909540-76909554, 76909567-76909589, 76909651-76909661, 76910722, 76910779-76910790
154FZD4110.9845105328376725161486666103-86666127
155MTMR2110.998447204968943193295657107-95657108, 95657111
156TRPC6110.99606580829757112796101362287-101362297
157DYNC2H1110.99992275009656112945103044018
158ACAT1110.9992211838006211284107992346
159ATM110.9998909606367919171108218060
160DLAT110.9994855967078211944111896399
161DRD2110.98948948948949141332113281449-113281453, 113283309-113283317
162APOA1110.9291044776119457804116706625-116706633, 116706717-116706740, 116706784-116706805, 116706810, 116706936
163FXYD2110.74200913242009113438117693064-117693065, 117693144-117693169, 117693183-117693217, 117693238, 117693242, 117693255, 117693279-117693283, 117693288, 117693345-117693347, 117693392-117693404, 117695369-117695393
164SCN4B110.9796215429403214687118023350, 118023355-118023367
165SLC37A4110.9971910112359631068118897777-118897779
166TECTA110.95545243619492886465120983837-120983850, 120983873-120983907, 120984262-120984270, 120984335-120984351, 120984375-120984401, 120989023-120989071, 120989097, 120989105-120989118, 120989164-120989196, 120989234-120989237, 120989248-120989264, 120989335, 120989345-120989362, 120996152-120996155, 120996403, 120996406-120996417, 120998738-120998744, 120998758-120998760, 120999000-120999021
167ACAD8110.9959935897435951248134131673-134131676, 134132422
168WNK1120.99132745838579627149862732-862738, 862903-862937, 862986, 862989-862991, 863076-863077, 863195-863208
169CACNA2D4120.989162272993563734141902867, 1904838, 1904921, 1904927, 1904932, 1906700-1906701, 1909218, 1909570-1909592, 1993423, 1995201, 1995205, 2027537-2027539
170CACNA1C120.9414723365340638465612614046-2614047, 2675604, 2676736, 2676748, 2676753-2676755, 2676793-2676795, 2676872, 2676876-2676877, 2676880-2676895, 2774015-2774025, 2774030, 2783772, 2786963-2786982, 2787015, 2788635-2788637, 2788706-2788734, 2788738-2788740, 2788874, 2788879, 2788885-2788894, 2791762, 2791765, 2791770, 2791773, 2791804, 2794934-2794980, 2795332-2795370, 2797685-2797710, 2797721-2797725, 2797733-2797734, 2797767-2797777, 2797808-2797817, 2797825-2797874, 2797880-2797881, 2797884-2797888, 2797890-2797892, 2797896, 2797914-2797915, 2800153-2800154, 2800201-2800221, 2800250-2800262, 2800290-2800304, 2800347-2800358, 2800361, 2800364
171VWF120.9825870646766214784426085369-6085372, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166100-6166106, 6166147-6166167, 6166226, 6204707-6204714, 6219621, 6230408-6230441, 6232356-6232360
172TNFRSF1A120.969298245614044213686438593-6438626, 6438639-6438645, 6450945
173SCNN1A120.968907178783726821876457052-6457063, 6457096-6457099, 6457418-6457419, 6458139-6458141, 6458356-6458385, 6458562-6458568, 6463632, 6463636, 6464557, 6464950-6464953, 6472671-6472673
174TPI1120.90266666666667737506976731-6976738, 6976751-6976782, 6976804-6976810, 6976827-6976845, 6979461-6979467
175ATN1120.972292191435779935737045696-7045709, 7045892-7045926, 7047132-7047164, 7047170, 7050158-7050159, 7050634, 7050640-7050651, 7050917
176PEX5120.99947257383966118967344197
177CDKN1B120.99664991624791259712871108, 12871111
178DNM1L120.997738579828135221132866207, 32866252-32866255
179PKP2120.9916467780429621251433049527-33049529, 33049533, 33049625-33049641
180LRRK2120.993275316455751758440761468-40761514, 40761535-40761538
181IRAK4120.996384671005065138344180483-44180487
182VDR120.979750778816226128448249461-48249464, 48251361-48251370, 48258867-48258878
183COL2A1120.96214157706093169446448372417, 48373822-48373845, 48374364-48374375, 48375595-48375607, 48375925-48375943, 48376366-48376380, 48377207, 48377870-48377874, 48379511-48379526, 48381081-48381089, 48383050, 48389038-48389048, 48389068-48389081, 48389677-48389702, 48398103-48398104
184MLL2120.9341519200674110941661449420169-49420170, 49420176-49420179, 49420612-49420614, 49420767-49420769, 49420773, 49422620-49422626, 49424089-49424091, 49424096-49424104, 49424167-49424178, 49424206-49424222, 49424418-49424420, 49424461-49424497, 49424530, 49424536, 49424676, 49424685, 49425082, 49425375-49425376, 49425448-49425449, 49425459, 49425608-49425614, 49425617-49425619, 49425684-49425686, 49425696, 49425778-49425798, 49425820-49425847, 49425945-49425948, 49426107-49426113, 49426151-49426154, 49426177-49426179, 49426516-49426520, 49426552-49426562, 49426625-49426635, 49426638-49426643, 49426656-49426713, 49426726-49426728, 49426737-49426740, 49426744-49426747, 49426772-49426774, 49426781-49426793, 49426817-49426862, 49426914-49426919, 49427047-49427056, 49427062, 49427082-49427126, 49427205-49427216, 49427247-49427293, 49427301-49427329, 49427391-49427411, 49427551, 49427592-49427607, 49427650, 49427652, 49427665-49427667, 49427672-49427676, 49427861-49427865, 49430919-49430927, 49431004-49431007, 49431023-49431026, 49431066, 49431073-49431085, 49431094, 49431163-49431171, 49431241, 49431272-49431276, 49431285-49431316, 49431375, 49431500-49431525, 49431545-49431547, 49431551-49431558, 49431608-49431609, 49431657-49431663, 49431687-49431707, 49431722-49431730, 49431745-49431755, 49431847-49431852, 49431896-49431924, 49431977-49431988, 49432076, 49432082, 49432183-49432224, 49432292-49432300, 49432367-49432378, 49432465-49432475, 49432478, 49432487-49432489, 49432517-49432550, 49432657-49432678, 49433013-49433033, 49433248-49433249, 49433288-49433297, 49433302, 49433318-49433337, 49433367-49433387, 49433721-49433771, 49433980-49433989, 49434049, 49434054, 49434068-49434069, 49434074-49434091, 49434096-49434105, 49438648, 49438658-49438659, 49442442-49442455
185TUBA1A120.7697368421052610545649522213, 49522245-49522290, 49522383-49522414, 49522465, 49522578, 49522602-49522625
186AQP2120.8627450980392211281650344614-50344632, 50344716-50344718, 50344799-50344823, 50344893-50344920, 50344940-50344953, 50349220-50349226, 50349269-50349275, 50349322-50349330
187ACVRL1120.996031746031756151252307424, 52307820-52307824
188KRT81120.83860342555995245151852680197-52680223, 52680259, 52680262-52680266, 52680269, 52680272, 52681035-52681037, 52681845, 52681920, 52681925, 52683911, 52683936-52683962, 52684021-52684061, 52685048-52685078, 52685087-52685088, 52685101, 52685111-52685112, 52685115-52685117, 52685142-52685222, 52685232-52685246
189KRT86120.8870636550308165146152695720-52695729, 52695863-52695890, 52696045-52696069, 52696888-52696933, 52696974-52697018, 52697043, 52699033-52699035, 52699512-52699518
190KRT83120.9912280701754413148252713118-52713124, 52714987-52714989, 52714993, 52715011-52715012
191AAAS120.9677026203534453164153701400-53701402, 53701421-53701425, 53701663-53701673, 53703050, 53703440-53703443, 53703456, 53708156-53708164, 53708206, 53708214-53708221, 53708565-53708567, 53708620-53708626
192RDH5120.988505747126441195756115011, 56115234-56115240, 56115604, 56117761, 56118181
193SUOX120.9987789987792163856398093-56398094
194RPS26120.948275862068971834856436209-56436225, 56436385
195GNS120.9770946353224838165965141538, 65152961-65152964, 65152969-65152997, 65153020-65153022, 65153026
196CEP290120.9963709677419427744088472953-88472959, 88535053-88535072
197HAL120.995440729483289197496370213-96370221
198TMPO120.9932853717026414208598909749-98909750, 98909796-98909806, 98909842
199UNG120.994692144373675942109535525, 109535598-109535601
200MMAB120.9787516600265616753109998900, 110011164-110011173, 110011281-110011285
201MVK120.98992443324937121191110034252-110034261, 110034272, 110034320
202TRPV4120.803134556574925152616110221426-110221488, 110221549, 110221553, 110221566, 110222152-110222158, 110222161-110222162, 110222173, 110222179, 110222217, 110222225, 110222242, 110224515-110224543, 110224589-110224599, 110224616-110224642, 110226231-110226272, 110226314-110226317, 110226420, 110226433, 110230178-110230222, 110230485, 110230551, 110230571-110230605, 110231816, 110232141-110232145, 110232258-110232264, 110232282, 110234395, 110236436-110236438, 110236448-110236450, 110236482-110236504, 110236515-110236555, 110236566-110236592, 110236606-110236650, 110238507, 110238527, 110238530-110238531, 110238554, 110238562, 110240798, 110240808, 110240814, 110240935, 110240938-110240948, 110246162-110246181, 110246186, 110246200-110246219, 110252221-110252227, 110252230-110252231, 110252243, 110252463, 110252467, 110252578-110252584
203ATP2A2120.9977628635346873129110719623-110719629
204ATXN2120.810248604769157483942111891511, 111891519-111891520, 111891525-111891526, 111895073, 111926292-111926298, 111926351, 111926400, 111957691, 111958739, 112036588-112037318
205PTPN11120.9988776655443321782112891123, 112893806
206SDS120.9361702127659663987113835095-113835120, 113835151-113835169, 113836320, 113836406-113836411, 113836518, 113836576-113836585
207TBX5120.9948619139370681557114793657-114793664
208TBX3120.9991039426523322232115112323-115112324
209ACADS120.97497982243745311239121174855, 121176676-121176685, 121176958-121176968, 121177099-121177101, 121177143-121177144, 121177149, 121177156, 121177250-121177251
210HNF1A120.860759493670892641896121416596-121416597, 121416692-121416708, 121416781, 121416842, 121426773-121426775, 121434180-121434199, 121434344-121434361, 121434373-121434375, 121434385-121434388, 121434463-121434469, 121434512, 121434515, 121434523-121434545, 121435322-121435326, 121435354-121435358, 121435361, 121435367, 121435463, 121437178-121437186, 121437286-121437298, 121437305-121437320, 121437368, 121437372-121437377, 121437380-121437392, 121438884-121438905, 121438926-121438995
211HPD120.814720812182742191182122277838-122277841, 122281681-122281694, 122284834-122284839, 122284958-122284969, 122285040-122285065, 122285109, 122286908-122286910, 122286947-122286960, 122286981-122286982, 122287598-122287606, 122287650-122287696, 122292639, 122292698, 122294272-122294293, 122295274-122295314, 122295692-122295696, 122296609-122296619
212ATP6V0A2120.99377674056787162571124197131-124197134, 124197160-124197169, 124197172, 124197174
213PUS1120.775700934579442881284132414268-132414299, 132414452-132414459, 132414472-132414555, 132414590-132414630, 132414637, 132414658-132414680, 132416720-132416730, 132425852-132425855, 132425972-132425984, 132426086-132426091, 132426164-132426183, 132426215, 132426461-132426481, 132426494-132426499, 132426503-132426508, 132426519-132426528, 132428090
214SACS130.9995633187772961374023908429, 23912181, 23913517-23913520
215CENPJ130.999751058003491401725458321
216B3GALTL130.9726118904475641149731774224-31774264
217BRCA2130.99697767378376311025732911592-32911605, 32912072-32912078, 32912162-32912168, 32912370, 32912373-32912374
218FREM2130.995057833859147951039261639-39261648, 39261759-39261779, 39261792, 39261797, 39261947-39261960
219SLC25A15130.99227373068433790641382658-41382664
220SUCLA2130.968390804597744139248528363-48528393, 48528398, 48571065-48571076
221RB1130.999641191245071278749027244
222RNASEH2B130.99574014909478493951484273-51484276
223ATP7B130.999317871759893439852508975, 52524417-52524418
224SLITRK1130.9923481587757116209184453759-84453774
225ZIC2130.797998749218263231599100634351-100634415, 100634428, 100634464-100634467, 100634520-100634521, 100634583-100634624, 100634684-100634688, 100634690, 100634693-100634701, 100634713-100634716, 100634727-100634729, 100634808-100634816, 100634909-100634915, 100635008-100635010, 100637293, 100637602-100637612, 100637640-100637686, 100637705-100637755, 100637764-100637765, 100637774, 100637780, 100637794-100637808, 100637815, 100637821-100637822, 100637837-100637865, 100637922-100637928
226PCCA130.9995427526291712187100741396
227COL4A1130.98463073852295775010110864262-110864269, 110959306-110959374
228F7130.03520599250936312881335113760156-113760219, 113765004-113765147, 113768066-113768083, 113768166-113768168, 113768171-113768176, 113768185-113768274, 113769974-113770114, 113771080-113771189, 113771787-113771910, 113772727-113773214, 113773223-113773322
229F10130.601908657123385841467113777170-113777239, 113783914, 113795241-113795248, 113795305-113795316, 113795348, 113798165-113798173, 113798204, 113798213-113798229, 113798257-113798291, 113798305, 113798309-113798325, 113798332-113798343, 113798348, 113798370-113798377, 113798387, 113798398, 113801706, 113801737-113801742, 113801790, 113801794, 113803230-113803240, 113803251-113803258, 113803269, 113803274-113803280, 113803287-113803290, 113803304-113803394, 113803419-113803452, 113803458-113803472, 113803506, 113803511-113803518, 113803522-113803562, 113803585-113803600, 113803603-113803638, 113803652, 113803665-113803681, 113803695, 113803702-113803706, 113803718-113803777, 113803809-113803831
230GRK1130.780141843971633721692114321702-114321721, 114321745-114321805, 114321818-114321831, 114321873, 114321877-114321878, 114321914-114321919, 114321962-114321982, 114322021-114322034, 114322059-114322093, 114322101-114322106, 114322143-114322145, 114322151-114322152, 114322162-114322164, 114322200-114322228, 114322256, 114322286-114322312, 114322322-114322323, 114322327-114322330, 114325819-114325826, 114325832-114325834, 114325851, 114325868-114325888, 114325890-114325898, 114325930-114325964, 114426047-114426057, 114426066-114426083, 114426125-114426130, 114434197-114434205
231TEP1140.97818366311517172788420840908-20840911, 20840915-20840917, 20841294-20841306, 20843914-20843921, 20843963-20843983, 20844023-20844027, 20844302-20844315, 20844365-20844369, 20844412-20844413, 20846366, 20846977-20846997, 20847202, 20848519-20848528, 20850138-20850140, 20850385-20850393, 20850456-20850459, 20850465, 20850469, 20850504, 20850861-20850874, 20851505, 20851755-20851758, 20851784-20851788, 20852274, 20852279-20852284, 20852790, 20854624-20854626, 20854698-20854702, 20854745-20854746, 20856147, 20856150, 20857400
232RPGRIP1140.9994819994822386121769368, 21794134
233SLC7A7140.999348958333331153623282129
234PABPN1140.99674267100977392123790700-23790702
235MYH6140.9874570446735473582023858206-23858230, 23869486, 23869557, 23869926, 23870065-23870068, 23870168, 23871952-23871991
236MYH7140.97296831955923157580823883018-23883041, 23883247-23883268, 23884276, 23884339, 23884633-23884637, 23885257-23885262, 23886087, 23886090-23886093, 23886746-23886748, 23886751-23886753, 23886757, 23887525-23887529, 23887547-23887574, 23887582, 23887585-23887587, 23889215-23889217, 23894003-23894004, 23894078-23894089, 23894514-23894520, 23894602, 23895237-23895255, 23896002, 23896006-23896009
237NRL140.87815126050428771424550548-24550558, 24550605-24550634, 24550676-24550677, 24550680-24550681, 24550692, 24550745-24550746, 24551778-24551809, 24551816, 24552021-24552026
238TGM1140.998370008149964245424723481, 24723917-24723918, 24724688
239FOXG1140.79251700680272305147029236486-29236493, 29236667-29236963
240CFL2140.99800399201597150135182633
241NKX2-1140.9817578772802722120636986596, 36986722-36986727, 36986768, 36986771, 36986836-36986840, 36988373-36988380
242PAX9140.99902534113061102637132254
243FANCM140.999837319017411614745623991
244C14orf104140.87589498806683312251450100499-50100524, 50100581, 50100608-50100610, 50100665, 50100709, 50100713-50100721, 50100756-50100798, 50100895-50100901, 50100946-50100949, 50100979-50101010, 50101093-50101134, 50101159-50101164, 50101184-50101209, 50101238-50101254, 50101360-50101374, 50101409-50101421, 50101468-50101469, 50101475-50101477, 50101543-50101584, 50101682, 50101733-50101738, 50101804-50101811, 50101849-50101852
245PYGL140.9681603773584981254451379762-51379763, 51379845-51379848, 51381455, 51381490-51381491, 51398420-51398426, 51410879-51410884, 51410941-51410969, 51411081-51411096, 51411108-51411121
246GCH1140.871181938911029775355369096-55369107, 55369122, 55369128-55369142, 55369168-55369174, 55369217-55369262, 55369277-55369291, 55369293
247SIX1140.99766081871345285561115906-61115907
248SYNE2140.9998069870681342072464430713, 64580272, 64580275, 64580284
249ZFYVE26140.99973753280842762068238799-68238800
250VSX2140.954880294659349108674706330, 74706338-74706342, 74706380-74706383, 74706388-74706390, 74706445-74706453, 74706613-74706634, 74707885-74707888, 74707968
251EIF2B2140.9810606060606120105675469827-75469846
252FLVCR2140.998734977862112158176045475-76045476
253ESRRB140.9816633922724328152776957902-76957906, 76964674-76964694, 76964730-76964731
254POMT2140.9662671992898476225377744801, 77745171, 77745193-77745195, 77786783-77786789, 77786828, 77786841-77786877, 77786893, 77786912, 77786927-77786930, 77786967, 77786970-77786971, 77786982-77786996, 77787019-77787020
255VIPAR140.9925775978407611148277894713-77894720, 77910647, 77915693, 77920414
256ATXN3140.9162062615101391108692537295-92537296, 92537305-92537331, 92537355-92537357, 92537372, 92547309-92547310, 92547353-92547354, 92549519-92549524, 92549592-92549602, 92559603-92559609, 92559612-92559620, 92559646-92559662, 92562437-92562440
257AMN14013621362103389026-103389068, 103390048-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
258INF2140.034436213750105167703-105168066, 105168073-105168093, 105169442-105169557, 105169632-105169791, 105170253-105170286, 105172372-105172513, 105173247-105173302, 105173318-105173371, 105173590-105174339, 105174773-105174924, 105175008-105175014, 105175037-105175069, 105175618-105175686, 105175696-105175720, 105175957-105176042, 105176425-105176525, 105177274-105177344, 105177416-105177418, 105177429-105177523, 105177966-105178036, 105178770-105178890, 105179165-105179329, 105179544-105179562, 105179572-105179646, 105179782-105179943, 105180540-105180602, 105180612-105180968, 105180976-105181193, 105181636-105181664, 105181675-105181676
259NIPA1150.8151515151515218399023048993-23048997, 23086234-23086411
260UBE3A150.9756468797564764262825615777-25615783, 25616617-25616660, 25616812-25616824
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263CDAN1150.9891422366992440368443021790-43021795, 43022930-43022931, 43022934, 43028665-43028690, 43028703-43028705, 43028785, 43028788
264STRC150.999436936936943532843910867-43910869
265SPG11150.999863611565741733244918567
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267GATM150.998427672955972127245670617, 45670620
268TPM1150.99766081871345285563335087, 63335116
269PPIB150.99078341013825665164455174-64455178, 64455185
270SPG21150.99676375404531392765255961-65255963
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272NR2E3150.99456521739136110472105797-72105802
273HEXA150.994339622641519159072668274-72668282
274HCN4150.697951273532671091361273614874-73614908, 73614925-73614940, 73615041, 73615049, 73615055, 73615062-73615072, 73615089-73615118, 73615133-73615154, 73615164-73615170, 73615175, 73615193-73615198, 73615211, 73615216, 73615222-73615225, 73615246-73615253, 73615422-73615446, 73615581-73615602, 73615657-73615668, 73615735-73615755, 73615872-73615881, 73615903-73615910, 73615919-73615920, 73616114-73616121, 73616138, 73616146-73616170, 73616190-73616232, 73616445, 73616504-73616506, 73616512-73616514, 73616591-73616594, 73659827-73659852, 73659864-73659868, 73659871-73659889, 73659904-73660611
275MPI150.997641509433963127275182970, 75185577, 75190000
276PSTPIP1150.0575539568345321179125177310489-77310589, 77310798-77310872, 77317625-77317642, 77317655-77317656, 77317850-77317942, 77320193-77320223, 77320231-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
277RPS17150.926470588235293040882823387-82823393, 82824418-82824440
278RPS17150.926470588235293040883207730-83207736, 83208761-83208783
279RLBP1150.99895178197065195489755103
280POLG150.96693548387097123372089866131-89866133, 89866690-89866691, 89866717-89866723, 89867349-89867355, 89867434-89867437, 89871702-89871707, 89871986-89871988, 89872003-89872007, 89872031, 89872174-89872175, 89873393, 89873407-89873414, 89876465-89876467, 89876746, 89876794-89876854, 89876905-89876913
281MESP2150.48827470686767611119490319589-90319617, 90319629-90319641, 90319672-90319732, 90319739-90319740, 90319747-90319753, 90319763-90319765, 90319767-90319822, 90319835-90319898, 90319906-90319977, 90320011-90320059, 90320079-90320099, 90320107-90320172, 90320212-90320226, 90320238-90320281, 90320341-90320368, 90320374-90320438, 90320478, 90320481-90320491, 90321376, 90321483-90321484, 90321565
282BLM150.9913023037141537425491337412-91337423, 91337541-91337565
283IGF1R150.9961013645224216410499192849-99192853, 99192894-99192904
284HBZ160.13053613053613373429202909-202923, 202933-202975, 202981-202996, 203893-203908, 203923-204028, 204041-204051, 204059-204095, 204271-204399
285HBM160.9272300469483631426216034, 216075-216084, 216309, 216326, 216343, 216360, 216395-216407, 216446-216448
286HBA2160.37062937062937270429222912-222936, 222944-222996, 223002-223006, 223124-223129, 223137, 223144, 223147-223150, 223172-223226, 223239-223274, 223283-223289, 223295-223328, 223478, 223482-223498, 223501-223502, 223518-223535, 223579, 223588-223591
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289IGFALS160.019668737060041189419321840601-1840656, 1840678-1840765, 1840771-1842215, 1842223-1842498, 1842504-1842516, 1843638-1843653
290GFER160.202265372168284936182034220-2034477, 2034748-2034772, 2034782-2034825, 2034835-2034843, 2034854-2034913, 2034923-2034927, 2034936-2034938, 2035874-2035876, 2035887-2035891, 2035907-2035929, 2035944-2035956, 2035984-2035993, 2035995-2036029
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292PKD116012912129122139728-2140195, 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
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295SLX4160.98583106267037855053632377-3632378, 3632521-3632535, 3639360, 3639779, 3642857-3642866, 3646234-3646239, 3646367, 3647464-3647477, 3647575-3647578, 3647810-3647812, 3647876-3647878, 3650983-3650991, 3650996-3650999, 3651015, 3651026, 3656649-3656651
296CREBBP160.8969845817983475573293777745-3777820, 3777929-3777930, 3778110-3778179, 3778299-3778314, 3778321, 3778371-3778430, 3778436-3778452, 3778479-3778486, 3778549-3778592, 3778599-3778614, 3778638-3778641, 3778644-3778677, 3778708-3778744, 3778784-3778815, 3778886-3778904, 3778930-3778935, 3778953-3778990, 3778999-3779031, 3779114-3779121, 3779136-3779138, 3779145-3779178, 3779245-3779298, 3779346-3779366, 3779370, 3779409-3779428, 3779450-3779499, 3779573-3779576, 3820852-3820858, 3929833-3929858, 3929904-3929917
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298ALG1160.7648745519713332813955121887-5121889, 5121892-5121903, 5127964, 5128758-5128802, 5128839-5128841, 5128845-5128879, 5129065-5129094, 5129766-5129801, 5130949-5130990, 5131012-5131057, 5132589-5132608, 5133741-5133758, 5134751-5134772, 5134815-5134821, 5134875-5134882
299ABAT160.9174983366600112415038860101-8860114, 8866637-8866663, 8866720-8866721, 8866724, 8868837-8868860, 8870346-8870347, 8873336-8873371, 8873395-8873412
300LITAF160.99794238683128148611647470
301MYH11160.996296296296322594015797946-15797947, 15826435-15826439, 15835627-15835628, 15835728-15835735, 15839034, 15847336, 15850369-15850371
302ABCC6160.56161347517731978451216244020-16244048, 16244093, 16244474-16244479, 16244537-16244562, 16248579-16248580, 16251642-16251643, 16253346-16253357, 16253360-16253363, 16253384, 16253403-16253404, 16253408-16253412, 16255301-16255421, 16256850-16256876, 16256896-16256925, 16256933-16257025, 16257035-16257036, 16259480-16259790, 16263503-16263710, 16267141-16267261, 16269768-16269843, 16271315-16271397, 16271406-16271483, 16272655-16272683, 16272704, 16272709, 16272718-16272722, 16272732-16272733, 16272736-16272788, 16272799-16272822, 16276269-16276303, 16276336-16276411, 16276424-16276426, 16276440-16276445, 16276661-16276690, 16276694, 16276699-16276701, 16276709-16276734, 16276757-16276780, 16276787, 16278816-16278891, 16280981-16281011, 16281037, 16281043-16281044, 16281049-16281053, 16282745-16282774, 16282786-16282828, 16284021-16284028, 16284061-16284062, 16284071, 16284162, 16284165-16284170, 16284199-16284200, 16284205-16284212, 16286702-16286727, 16286778, 16291878-16291903, 16291926, 16291947-16291972, 16291983, 16291993, 16292023-16292039, 16295893, 16295896-16295902, 16297402-16297408, 16306050-16306063, 16313411-16313415, 16315613-16315658, 16317268-16317290
303UMOD160.93135725429017132192320359828-20359834, 20359844-20359886, 20359990-20359994, 20360019-20360054, 20360098-20360104, 20360296-20360328, 20360373
304OTOA160.9964912280701812342021696662, 21698818-21698821, 21763370-21763376
305OTOA160.9929718875502799622579498-22579504
306SCNN1B160.9500780031201296192323366778-23366786, 23382734, 23391859-23391860, 23391910-23391954, 23391965-23391970, 23392006, 23392048, 23392052-23392077, 23392088-23392089, 23392117-23392119
307COG7160.8400345871163370231323400245, 23400260, 23400268, 23400275, 23400279, 23400300-23400349, 23400398, 23400401-23400403, 23400406-23400407, 23403701-23403717, 23403724-23403744, 23403789-23403827, 23403839-23403844, 23404620, 23404624-23404625, 23404632-23404641, 23404668, 23409367-23409389, 23409400-23409407, 23409431-23409450, 23415089-23415128, 23417421, 23417431, 23417438, 23424866, 23428440, 23436128-23436198, 23436224-23436268
308CLN3160.91875474563402107131728493491, 28493976-28493993, 28497673-28497678, 28497681-28497728, 28497731, 28497763-28497766, 28498988, 28499019-28499032, 28499932-28499937, 28500684-28500691
309TUFM160.9634502923976650136828857274-28857277, 28857320-28857323, 28857331-28857338, 28857379-28857383, 28857407-28857427, 28857571-28857573, 28857581-28857584, 28857589
310ATP2A1160.9727212242182382300628895896-28895907, 28895930-28895931, 28898515, 28898866-28898889, 28898892-28898893, 28898919, 28900174, 28900269, 28909556, 28911958, 28911967-28911972, 28912005-28912010, 28912152, 28912156-28912165, 28914215, 28915512-28915523
311PHKG2160.80671580671581236122130760142-30760236, 30762594, 30764715-30764725, 30764794-30764807, 30764811-30764818, 30764869-30764870, 30767509, 30767918-30767948, 30768125-30768127, 30768154, 30768287-30768333, 30768346-30768354, 30768359-30768370, 30768382
312VKORC1160.821138211382118849231102619-31102634, 31102645-31102663, 31104649-31104653, 31105886-31105889, 31105934-31105977
313FUS160.9487666034155681158131191541, 31193884-31193902, 31195279, 31195288-31195317, 31195532-31195535, 31196377, 31196402-31196426
314SLC5A2160.91282813273898176201931494483, 31494522, 31494529-31494531, 31495994-31495999, 31497050-31497051, 31499051-31499069, 31499372-31499378, 31499451-31499458, 31499704-31499724, 31499743-31499745, 31499810-31499811, 31499950-31499973, 31500002-31500027, 31500066-31500093, 31500201-31500216, 31500359-31500365, 31500524, 31501758
315NOD2160.9855907780979845312350744813-50744826, 50745528-50745539, 50745885-50745903
316SALL1160.999245283018873397551175656-51175658
317RPGRIP1L160.9946808510638321394853652938-53652941, 53672297-53672303, 53672306-53672309, 53672312-53672317
318MMP2160.9949571356530510198355513392, 55513469-55513471, 55513475-55513479, 55513509
319SLC12A3160.89686388619463319309356899173-56899177, 56899205-56899213, 56899416-56899417, 56900982-56900992, 56901052, 56904093-56904096, 56904617-56904639, 56906349, 56911989-56912008, 56912022-56912034, 56914042-56914054, 56914140-56914146, 56919235-56919261, 56920276-56920289, 56920884-56920917, 56920937-56920952, 56920995-56921005, 56921842-56921845, 56921854-56921880, 56921891-56921938, 56926919-56926928, 56936390-56936391, 56936402, 56938326-56938339, 56938366-56938367
320GPR56160.93604651162791132206457684210-57684248, 57685121-57685124, 57687222-57687235, 57687903, 57689312-57689353, 57689374-57689376, 57689398-57689400, 57689835-57689838, 57694694, 57695695, 57697366-57697385
321CNGB1160.9816293929712569375657918200-57918209, 57991245-57991250, 57993801-57993811, 57994386-57994399, 57994402, 57994804-57994819, 57996469-57996477, 58001032, 58001135
322TK2160.972943722943722592466583958-66583968, 66583972, 66583975-66583976, 66584039-66584049
323HSD11B2160.74384236453202312121867465152-67465416, 67469595, 67469632, 67469969, 67469973, 67469988-67470020, 67470282, 67470524-67470527, 67470564, 67470571, 67470904-67470906
324LCAT160.37037037037037833132367973836, 67973862-67973885, 67973906-67974016, 67974042-67974118, 67974140, 67974151, 67974164-67974169, 67974178-67974269, 67974284-67974302, 67974335-67974381, 67976266-67976296, 67976347, 67976362-67976372, 67976386-67976421, 67976438-67976458, 67976473-67976490, 67976580-67976631, 67976648-67976669, 67976764-67976793, 67976820-67976826, 67976858-67976879, 67976959-67977035, 67977060-67977097, 67977851-67977883, 67977904, 67977922, 67977946-67977998
325CDH3160.9574297188755106249068679310-68679313, 68679596-68679598, 68712492, 68712781, 68713713-68713717, 68713722, 68713725, 68716389, 68718570, 68718584, 68718671, 68718717, 68718722-68718725, 68719122-68719128, 68719149-68719180, 68721446, 68721449-68721463, 68721529-68721535, 68721603-68721605, 68725713-68725725, 68725736, 68725739, 68725829
326CDH1160.983389958474944264968771319-68771321, 68771327-68771366, 68772219
327CIRH1A160.994662785055811206169194273-69194274, 69197072-69197078, 69199416, 69201085
328COG8160.89668297988037190183969364753-69364759, 69364784-69364823, 69364843-69364875, 69364888-69364905, 69364937-69364942, 69366733-69366738, 69368430-69368432, 69368846, 69373087-69373091, 69373133-69373150, 69373167-69373168, 69373219-69373231, 69373237, 69373254-69373260, 69373364-69373367, 69373396-69373421
329AARS160.85517715858273421290770286633-70286680, 70286781-70286809, 70288568-70288593, 70292053-70292055, 70292060, 70292066, 70293020-70293029, 70294983-70295021, 70295051, 70296299-70296306, 70296308-70296314, 70296393-70296394, 70296424-70296427, 70298868-70298897, 70298915-70298954, 70299540, 70299543-70299565, 70301569-70301600, 70301625-70301659, 70301703-70301712, 70302232-70302237, 70302243-70302248, 70302251-70302256, 70303536, 70303580, 70303665-70303666, 70304114, 70304153-70304154, 70305863, 70305866, 70310929, 70316562-70316604
330HP160.9967239967244122172091295, 72091307-72091308, 72091311
331GCSH160.7528735632183912952281118125-81118145, 81124271-81124283, 81129736-81129778, 81129795, 81129801-81129833, 81129842-81129859
332GAN160.9843924191750328179481348747-81348774
333MLYCD160.72267206477733411148283932766-83932793, 83932800-83932840, 83932853-83932854, 83932866-83932943, 83932952-83932953, 83932955, 83932982-83932994, 83933005-83933041, 83933070-83933123, 83933134, 83933137-83933140, 83933155-83933196, 83933227-83933237, 83933246, 83933252, 83933260-83933267, 83933271, 83945888, 83948726-83948780, 83948798-83948806, 83948816-83948820, 83948856, 83948915, 83948990-83948997, 83949071-83949076
334LRRC50160.9908172635445420217884179095-84179098, 84182612-84182617, 84199513, 84203896-84203897, 84203957-84203962, 84209850
335FOXF1160.74298245614035293114086544176-86544199, 86544206-86544241, 86544260-86544274, 86544372-86544390, 86544513-86544514, 86544525-86544550, 86544590-86544614, 86544691-86544714, 86544771-86544775, 86544779-86544780, 86544843-86544877, 86544896-86544935, 86544958-86544988, 86545027, 86545040, 86546645-86546651
336FOXC2160.65471447543161520150686600943-86600950, 86601014-86601058, 86601102-86601133, 86601206-86601214, 86601222, 86601256-86601265, 86601307-86601341, 86601409-86601423, 86601430, 86601560-86601565, 86601602-86601625, 86601660-86601685, 86601695-86601726, 86601761-86601783, 86601808-86601817, 86601852-86601922, 86601961-86602023, 86602065, 86602104-86602136, 86602201-86602236, 86602242-86602268, 86602375, 86602387, 86602437-86602446
337JPH3160.336893635959061490224787636841-87636848, 87636871-87636896, 87636902-87636907, 87636911-87636929, 87636934, 87636946-87636954, 87636977-87636989, 87637104-87637107, 87637110, 87637129-87637134, 87677901-87677902, 87677913-87677917, 87677928-87677955, 87677965-87677995, 87678018-87678066, 87678203-87678209, 87678244-87678260, 87678266-87678351, 87678382-87678397, 87678470-87678493, 87678496-87678498, 87678536-87678545, 87678582-87678612, 87678625-87678641, 87717748-87717868, 87723252-87724132, 87730186-87730254
338CYBA160.06462585034013655058888709761-88709979, 88712524-88712605, 88713163-88713246, 88713509-88713583, 88714453-88714470, 88714486, 88714492-88714496, 88714501, 88714504, 88714517-88714522, 88717364-88717421
339APRT160.02578268876611452954388876106-88876180, 88876195-88876248, 88876478-88876556, 88876831-88876964, 88877958-88878064, 88878228-88878307
340GALNS160.318674314850221069156988880847-88880892, 88880907-88880933, 88884415-88884532, 88888997-88889059, 88889067-88889118, 88891175-88891277, 88893110-88893246, 88898452-88898458, 88898502-88898509, 88901621-88901665, 88901694-88901717, 88902133-88902141, 88902150-88902158, 88902166-88902170, 88902175, 88902183-88902205, 88902240, 88902253, 88904030-88904032, 88904040-88904042, 88904045-88904054, 88904065-88904095, 88904150, 88904164, 88907400-88907471, 88907489-88907502, 88908305-88908308, 88908317-88908354, 88908364-88908365, 88908373-88908378, 88909114-88909150, 88909163, 88909191-88909237, 88923166-88923285
341SPG7160.79396984924623492238889574826-89575008, 89576954-89576964, 89579356, 89597214-89597216, 89598336-89598376, 89598992-89598996, 89613078, 89613160-89613168, 89614423-89614470, 89614480, 89614487, 89614495-89614505, 89614509, 89614520-89614521, 89616945, 89619470-89619483, 89619534-89619539, 89620262-89620301, 89620323-89620347, 89620971, 89623352, 89623364, 89623386-89623448, 89623463-89623483, 89623501
342FANCA160.82142857142857780436889805038-89805116, 89805305-89805348, 89805363-89805382, 89805553-89805611, 89805630-89805632, 89805637-89805638, 89805642-89805650, 89805676-89805680, 89805688-89805697, 89805889-89805948, 89806402-89806424, 89806436-89806442, 89807212-89807231, 89807258-89807267, 89807270-89807274, 89809208-89809234, 89809266-89809293, 89809300-89809303, 89811415-89811417, 89811453, 89813047, 89813068-89813080, 89813091-89813096, 89813249, 89815102, 89815141-89815168, 89833564-89833565, 89836287-89836324, 89836341-89836345, 89836418, 89836424-89836426, 89836431, 89836654-89836667, 89836972-89836995, 89837006-89837042, 89839712-89839718, 89839744-89839761, 89842161-89842173, 89842200-89842210, 89842222, 89849286-89849323, 89862372, 89877343-89877355, 89877385, 89882312-89882315, 89882945-89883023
343TUBB3160.254249815225431009135389989810-89989866, 89998979-89999087, 89999877-89999907, 89999942-89999944, 89999970-89999972, 90001137-90001168, 90001182-90001210, 90001255-90001258, 90001269-90001282, 90001308-90001370, 90001398-90001404, 90001417-90001650, 90001660, 90001670-90001702, 90001710, 90001714-90001829, 90001848-90001854, 90001871-90001908, 90001919, 90001923-90001940, 90001966-90002032, 90002039-90002089, 90002123-90002212
344PRPF8170.94335045662139770081554114-1554150, 1554735, 1554772-1554778, 1554995-1555001, 1556848-1556857, 1556920-1556930, 1556965-1556977, 1557134-1557161, 1557200-1557222, 1557233, 1558653-1558674, 1558686, 1558776-1558778, 1558783-1558792, 1558803, 1559697, 1559977-1559987, 1560027, 1561583-1561589, 1562006, 1563801-1563807, 1564591, 1564604, 1564951-1564955, 1565213-1565215, 1565269, 1565344, 1576390-1576392, 1578914-1578942, 1578992-1578995, 1579239-1579243, 1579248, 1579626-1579628, 1579645, 1579898, 1579959, 1579967, 1579972, 1580270-1580274, 1580303-1580312, 1580441-1580448, 1580895, 1580903-1580906, 1580918, 1582348, 1583014, 1586834, 1586860-1586890, 1586963, 1587766-1587814, 1587847-1587865
345ASPA170.786624203821662019423397644-3397682, 3397718-3397753, 3402185-3402186, 3402220-3402287, 3402319-3402359, 3402368-3402382
346CTNS170.5178719866999258012033550772-3550775, 3550798, 3550813-3550816, 3552141-3552172, 3552220-3552225, 3558538, 3558596, 3559781-3559880, 3559970-3560089, 3561299-3561359, 3561378, 3561395-3561424, 3561429, 3561432, 3561445-3561469, 3563158-3563159, 3563164-3563220, 3563237-3563261, 3563530-3563533, 3563542-3563567, 3563591-3563594, 3563597-3563600, 3563605, 3563609-3563623, 3563915-3563952, 3563963, 3564008-3564015, 3564020-3564026
347CHRNE170.5094466936572272714824802041-4802055, 4802161-4802186, 4802296-4802396, 4802495, 4802520-4802679, 4802763-4802832, 4802841-4802860, 4804088-4804148, 4804168-4804202, 4804285-4804324, 4804357-4804359, 4804408-4804467, 4804478-4804485, 4804863-4804900, 4805252-4805255, 4805291, 4805294-4805303, 4805342-4805382, 4805529, 4805532, 4805571-4805573, 4805606-4805609, 4805745-4805759, 4805939, 4805942, 4805995, 4806322, 4806327-4806331
348GP1BA170.963020833333337119204837115-4837172, 4837212-4837213, 4837240-4837246, 4837745-4837747, 4837755
349PITPNM3170.8676923076923138729256358687-6358707, 6358733-6358741, 6358759, 6358790, 6358826-6358828, 6358913-6358919, 6368030-6368045, 6373583, 6373723-6373728, 6374481-6374495, 6374508-6374511, 6374516, 6374519-6374533, 6374538, 6374556-6374577, 6374591, 6374606, 6375991, 6376021, 6376060-6376081, 6376105, 6377752-6377765, 6377782-6377808, 6377885, 6377891, 6377906, 6380436-6380454, 6380483-6380486, 6380489-6380491, 6381301, 6381307-6381314, 6381317, 6381328, 6381385-6381391, 6381902-6381905, 6381920-6381923, 6381939, 6381987-6382033, 6382043-6382056, 6386938-6386966, 6387009-6387031, 6441373-6441376, 6441379, 6459705-6459726
350ACADVL170.8373983739837432019687123306-7123365, 7123441-7123486, 7123514, 7123847-7123848, 7123952-7123955, 7123979, 7124291, 7124353, 7124865, 7124966, 7125292, 7125358-7125359, 7125531-7125540, 7126028, 7126068, 7126171-7126183, 7126479-7126481, 7126529-7126531, 7126549-7126552, 7126973-7126987, 7127287-7127292, 7127364-7127369, 7127507-7127508, 7127513, 7127533-7127542, 7127646, 7127670-7127702, 7127961-7128000, 7128194-7128203, 7128279-7128317, 7128393
351CHRNB1170.977423638778223415067348447-7348455, 7348464-7348466, 7348490-7348504, 7348593, 7357638-7357640, 7359914-7359916
352MPDU1170.9973118279569927447490530, 7490533
353TP53170.99915397631134111827573933
354GUCY2D170.9175724637681227333127906376-7906415, 7906442-7906445, 7906451-7906452, 7906456-7906457, 7906479-7906507, 7906529-7906533, 7906565-7906620, 7906640-7906651, 7906666-7906691, 7906701-7906723, 7906727-7906728, 7906748-7906755, 7906834-7906849, 7906896-7906905, 7906913, 7906916, 7906949-7906955, 7907172-7907181, 7907185-7907196, 7918752-7918758
355ALOX12B170.982905982905983621067982714-7982719, 7983103-7983113, 7984221-7984228, 7984493-7984503
356HES7170.93362831858407456788024897, 8024901-8024903, 8024906-8024908, 8024980-8025006, 8025010-8025019, 8025325
357MYH3170.9891808346213363582310533615-10533620, 10533625-10533627, 10535839, 10535900-10535901, 10542471, 10542947-10542951, 10543020-10543025, 10543119, 10543678-10543689, 10544617-10544627, 10555803-10555809, 10558202, 10558295-10558301
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441DNM2190.82510524301569457261310828919-10828920, 10828941-10828985, 10829063-10829070, 10829073-10829074, 10870417-10870430, 10870436-10870439, 10870458, 10870475-10870487, 10887813-10887814, 10887886, 10893647-10893655, 10893659, 10893667-10893679, 10893693, 10893697, 10893707-10893730, 10893758-10893796, 10897256, 10897282-10897309, 10897334-10897348, 10897351-10897353, 10897357-10897382, 10904398, 10904422-10904428, 10904482, 10904504, 10904511-10904517, 10909210, 10912964-10912972, 10912983, 10912994-10912995, 10912998-10913004, 10913016-10913031, 10922943-10922950, 10922972-10923001, 10923005, 10923016-10923053, 10930693, 10930734-10930747, 10934490, 10934532, 10935766-10935767, 10939824-10939825, 10939863-10939894, 10939923, 10940859-10940860, 10940863-10940868, 10940905, 10941027, 10941661, 10941665-10941666, 10941671-10941673, 10941709-10941712
442LDLR190.77042198993419593258311215925-11215930, 11215974, 11215979-11215985, 11216070-11216109, 11216133-11216163, 11216182-11216189, 11216214-11216247, 11217241-11217243, 11217308-11217332, 11217355-11217363, 11218118-11218124, 11218135, 11218152-11218163, 11218186-11218187, 11221328-11221370, 11221384-11221426, 11222191-11222219, 11222244-11222251, 11222286-11222303, 11223954-11223955, 11224002-11224003, 11224017, 11224030-11224039, 11224057-11224062, 11224075, 11224079, 11224089-11224107, 11224123-11224125, 11224229-11224265, 11224302-11224306, 11224317-11224321, 11224334-11224344, 11224428-11224438, 11226846, 11226887-11226888, 11227641, 11227646-11227651, 11227654-11227660, 11231169, 11231197, 11233874-11233920, 11233973-11233975, 11233985-11234020, 11240189-11240220, 11240267, 11240276-11240286, 11240301-11240302, 11240331
443LDLR190.947368421052631528511240301-11240302, 11240331, 11242048, 11242103-11242113
444PRKCSH190.91997479521109127158711552086-11552088, 11552105, 11552148, 11557097, 11557107-11557112, 11558289-11558317, 11558336-11558376, 11558510-11558516, 11558525-11558559, 11560093, 11560226-11560227
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446GCDH190.84510250569476204131713002119-13002120, 13002137-13002142, 13002152, 13002703-13002710, 13004383, 13004428-13004430, 13004440, 13004443, 13004462-13004467, 13006827-13006876, 13006881, 13006911-13006935, 13007019-13007024, 13007039, 13007065-13007072, 13007089-13007133, 13007235, 13007743, 13007757-13007764, 13007818-13007827, 13008171, 13008229-13008236, 13008532-13008537, 13008553, 13008601-13008602, 13008607
447CACNA1A190.862651243185751033752113318127-13318159, 13318169-13318221, 13318230-13318463, 13318475-13318516, 13318523-13318827, 13318833-13318867, 13319570-13319572, 13319586-13319680, 13319693, 13320163-13320165, 13320168, 13320175-13320179, 13320184-13320191, 13321450-13321457, 13325047-13325057, 13325101-13325120, 13325341-13325359, 13325390-13325392, 13335483-13335487, 13335515-13335536, 13335539-13335586, 13409410-13409413, 13409561-13409599, 13409602-13409606, 13409847, 13409884-13409906, 13419240, 13476134, 13616801, 13616929-13616932
448NOTCH3190.838644846396781124696615272037, 15272041, 15272214-15272217, 15276702, 15281289-15281290, 15281296-15281320, 15284879-15284889, 15284909-15284920, 15284963-15284992, 15285026-15285032, 15285050-15285099, 15285159-15285163, 15285169-15285170, 15285174, 15285194, 15285200-15285211, 15288364-15288370, 15288488-15288513, 15288543-15288549, 15288623, 15288796, 15288801, 15288807, 15288811-15288813, 15288822-15288829, 15288846, 15291574-15291576, 15291800-15291801, 15291858, 15291894, 15296122, 15298717-15298719, 15299801-15299848, 15299887-15299920, 15299944-15299955, 15300206-15300239, 15302235-15302297, 15302303-15302309, 15302315-15302386, 15302452-15302468, 15302556-15302600, 15302617-15302619, 15302634-15302639, 15302649-15302650, 15302673-15302678, 15302771-15302890, 15302900-15302926, 15302935-15303109, 15303189, 15303205-15303254, 15303258-15303265, 15303330, 15308311-15308336, 15308352-15308368, 15311599-15311716
449JAK3190.637925925925931222337517940917-17940928, 17940951-17941027, 17941322-17941325, 17941349-17941429, 17942045, 17942081, 17942172-17942202, 17942499-17942505, 17942508, 17942528-17942559, 17942591, 17945496-17945511, 17946760, 17946856-17946860, 17947956-17947957, 17947971, 17948019-17948022, 17948753, 17948821-17948835, 17948865-17948872, 17949072-17949140, 17949185, 17950310, 17950315, 17950327-17950399, 17951046-17951052, 17951076-17951112, 17952257, 17952260-17952280, 17952290-17952333, 17952449-17952455, 17952479-17952510, 17952555-17952571, 17953125-17953358, 17953378, 17953399, 17953836-17953926, 17953937-17953971, 17953978-17953981, 17954189-17954216, 17954232, 17954256-17954300, 17954596-17954601, 17954622-17954641, 17954668-17954674, 17954680-17954709, 17955043-17955074, 17955080-17955087, 17955114-17955115, 17955119, 17955124-17955141, 17955147-17955148, 17955170-17955211, 17955225-17955226
450SLC5A5190.5843685300207803193217983129-17983151, 17983163, 17983186-17983273, 17983282-17983378, 17983455-17983474, 17984947-17985012, 17985303-17985331, 17985473, 17985478-17985480, 17985485-17985491, 17985496-17985501, 17985506-17985509, 17985518, 17985532, 17986761-17986764, 17986781-17986807, 17986825-17986874, 17986893-17986901, 17986907-17986915, 17988532-17988535, 17988563-17988564, 17988604-17988621, 17988667, 17988671-17988672, 17988773-17988774, 17988784, 17988810-17988852, 17988885-17988898, 17991674-17991699, 17992793, 17992799, 17992985-17993028, 17994490-17994492, 17994505-17994532, 17994557-17994572, 17994687-17994688, 17994698, 17994752-17994790, 17994810-17994855, 17999140-17999141, 17999167-17999211, 17999240, 17999247, 17999259, 17999263, 18004663-18004674
451IL12RB1190.58069381598793834198918177371-18177375, 18177416-18177436, 18177463, 18177484-18177507, 18179260-18179294, 18179318-18179336, 18180378-18180406, 18180443-18180462, 18180466-18180468, 18180482-18180501, 18182922-18182933, 18182946-18182986, 18183014, 18183022-18183024, 18183028-18183032, 18183051, 18183087-18183117, 18183147, 18184327-18184333, 18184342-18184351, 18184357, 18184406, 18184409, 18186559-18186678, 18187107-18187137, 18188326-18188329, 18188337-18188440, 18188456-18188465, 18191655-18191698, 18191718-18191729, 18191735, 18191755-18191811, 18192960-18192972, 18193010-18193021, 18193024-18193025, 18193050-18193071, 18194256-18194301, 18197570-18197633
452COMP190.414248021108181332227418893726, 18893763-18893771, 18893864-18893865, 18893893, 18893896-18893907, 18893915-18893949, 18893955-18893997, 18895001-18895016, 18895024, 18895027, 18895114-18895116, 18895120-18895121, 18895159-18895173, 18895770, 18896308-18896324, 18896339-18896356, 18896483-18896514, 18896521-18896585, 18896598-18896617, 18896627-18896653, 18896775-18896787, 18896801-18896814, 18896832-18896880, 18896924-18896949, 18896952-18896954, 18897054-18897057, 18897100-18897101, 18897360-18897362, 18898300-18898340, 18898356-18898374, 18898401, 18898404-18898420, 18898425, 18898432-18898433, 18899025-18899101, 18899107-18899128, 18899219-18899241, 18899250, 18899284-18899294, 18899308, 18899401-18899452, 18899456-18899462, 18899473-18899559, 18899648-18899674, 18899713-18899716, 18899719-18899722, 18899987-18900106, 18900751-18900923, 18901371-18901422, 18901659-18901744, 18902000-18902022, 18902025-18902033, 18902042-18902078
453SLC7A9190.998633879781422146433333126-33333127
454CEBPA190.12906220984215938107733792244-33792272, 33792276, 33792293-33792347, 33792362-33792365, 33792383, 33792389-33792442, 33792482-33792616, 33792633-33793077, 33793098-33793122, 33793132-33793320
455SCN1B190.950433705080554080735521725-35521764
456HAMP190.909803921568632325535773481-35773499, 35773520-35773522, 35773530
457MAG190.63955342902711678188135786522-35786531, 35786550-35786589, 35786605, 35786618, 35786662, 35786697, 35786779-35786805, 35786860, 35790457-35790458, 35790467-35790753, 35791050-35791193, 35791200-35791207, 35791215-35791220, 35793372-35793380, 35793504, 35793511-35793512, 35793517-35793525, 35793549-35793592, 35800785, 35800787-35800812, 35800884-35800910, 35800970-35800998, 35801535
458PRODH2190.87461204220981202161136290941, 36290949, 36290979-36290986, 36290998, 36291093, 36291109-36291111, 36291114-36291124, 36293909, 36293966, 36293974, 36293979-36293980, 36297332-36297334, 36297490-36297496, 36297588-36297590, 36297660-36297673, 36297731, 36297943-36297944, 36297960-36297970, 36297980-36297983, 36297998, 36298010, 36302888, 36302945-36302946, 36303036-36303051, 36303086-36303088, 36303268-36303289, 36303296-36303323, 36303331-36303372, 36303593, 36303597-36303602, 36303616, 36304134-36304135
459NPHS1190.984970477724156372636321752, 36322271-36322273, 36322551-36322563, 36322576, 36322601, 36326640-36326646, 36330450-36330451, 36333125, 36333130, 36333157, 36335018, 36336577-36336581, 36336584-36336586, 36336611-36336620, 36336626, 36339570, 36339661, 36341870, 36342248, 36342739
460TYROBP190.2153392330383526633936395471-36395484, 36395490-36395496, 36395505-36395514, 36395519, 36395525, 36395528, 36395533, 36398120-36398163, 36398348-36398351, 36398354-36398380, 36398390-36398396, 36398413-36398482, 36398632-36398664, 36399070-36399115
461SDHAF1190.5747126436781614834836486177-36486228, 36486266-36486274, 36486307-36486336, 36486345-36486389, 36486512-36486523
462WDR62190.9816272965879384457236577610, 36577613-36577614, 36579953-36579954, 36579957-36579976, 36580184, 36581350-36581352, 36583700-36583702, 36591700-36591703, 36595746-36595748, 36595800-36595844
463RYR1190.943375008268848561511738931385, 38931397-38931496, 38937141-38937149, 38937181-38937188, 38937349, 38937352-38937360, 38939017-38939023, 38951170-38951176, 38980065, 38987094, 38987152-38987156, 38987500-38987516, 38987521, 38987524, 38987527, 38987530-38987543, 38987548-38987565, 38987570, 38990275-38990276, 38990279-38990283, 38991543, 39037161-39037165, 39055623-39055635, 39055652-39056038, 39056056-39056096, 39056101-39056113, 39056120, 39056146-39056184, 39056197-39056242, 39056268-39056279, 39056290-39056291, 39056305-39056320, 39056384-39056411, 39061247-39061248, 39061325-39061332, 39075604-39075611, 39075621, 39075644-39075655, 39075696-39075698, 39075701, 39076757, 39077183-39077189
464ACTN4190.59685672514621103273639138421-39138448, 39138486-39138527, 39138540, 39138545-39138547, 39205109-39205111, 39205114, 39205128-39205159, 39205192-39205196, 39207726-39207733, 39207751, 39207840-39207846, 39207924-39207956, 39208598-39208600, 39208603-39208604, 39208674-39208706, 39212218-39212245, 39212259-39212278, 39214268-39214269, 39214315-39214362, 39214577-39214711, 39214797-39214819, 39214841-39214848, 39214868-39214979, 39215071-39215138, 39215155, 39215160-39215182, 39215188, 39215192-39215194, 39215198-39215205, 39216364-39216387, 39216443-39216453, 39216476-39216486, 39216492-39216497, 39217597-39217601, 39217609-39217653, 39217689-39217696, 39217721, 39217726-39217727, 39218586-39218590, 39218642-39218666, 39219636-39219687, 39219715-39219794, 39219914-39220059
465DLL3190.80560043080237361185739989832-39989833, 39993455-39993486, 39993493-39993672, 39994761-39994762, 39994781, 39994805-39994838, 39994856-39994859, 39994875-39994882, 39994887, 39995963, 39997718-39997735, 39997760-39997786, 39997825-39997826, 39997834, 39997859, 39997864, 39997870, 39997949-39997966, 39998008-39998011, 39998014, 39998119-39998140
466PRX190.95098039215686215438640900246-40900247, 40900729-40900740, 40901293-40901313, 40901792-40901793, 40901800-40901806, 40903153-40903156, 40903428-40903432, 40903435, 40903468-40903469, 40903476-40903480, 40904541, 40904544, 40904714, 40909613-40909664, 40909674-40909694, 40909706-40909769, 40913826-40913839
467TGFB1190.70076726342711351117341837057-41837096, 41838107-41838120, 41838167-41838168, 41848098-41848111, 41850652-41850655, 41850670, 41850683-41850689, 41850710-41850765, 41854212-41854261, 41854268-41854274, 41854297-41854329, 41854342-41854360, 41858610-41858615, 41858660-41858666, 41858710-41858740, 41858746-41858756, 41858764, 41858767-41858768, 41858880-41858886, 41858896, 41858912-41858949
468BCKDHA190.81763826606876244133841903734-41903743, 41903747, 41903752-41903756, 41903770, 41903799-41903805, 41916566, 41916572, 41916576, 41919987, 41920044-41920061, 41925047-41925055, 41925102-41925137, 41925176-41925179, 41928103, 41928219-41928265, 41928597, 41928634-41928646, 41928652, 41928973-41928975, 41929008-41929020, 41929061, 41929070-41929074, 41930380-41930396, 41930419-41930452, 41930501-41930513
469RPS19190.7465753424657511143842364845-42364915, 42365193, 42365252-42365258, 42365271-42365281, 42373121, 42373246, 42373252-42373257, 42375423, 42375427-42375436, 42375442-42375443
470ATP1A3190.94371941272431207367842470752, 42470762, 42470783, 42470864, 42470870-42470916, 42470930-42470944, 42470963-42470966, 42471037-42471075, 42471313-42471337, 42471344-42471382, 42471439-42471455, 42480568-42480574, 42489114, 42489122, 42489244, 42490029, 42498223-42498228
471ETHE1190.918954248366016276544012103-44012112, 44012139-44012147, 44012177-44012180, 44015692-44015718, 44031264, 44031270, 44031288, 44031293-44031295, 44031324-44031329
472BCAM190.93004769475358132188745312382-45312450, 45315427, 45315621-45315622, 45317447, 45317499-45317500, 45323962-45323971, 45324034-45324075, 45324174-45324178
473APOE190.926624737945497095445411912-45411915, 45411979-45411994, 45412011-45412013, 45412022, 45412043-45412046, 45412108-45412145, 45412227-45412228, 45412252, 45412254
474BLOC1S3190.977011494252871460945682634-45682637, 45682648-45682652, 45683012-45683016
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534ZAP7020.9532258064516187186098340547-98340570, 98340605-98340609, 98340711-98340728, 98340749-98340762, 98340769-98340777, 98340838-98340846, 98349400-98349402, 98351104-98351108
535CNGA320.999520383693051208599012926
536RANBP220.907596899224818949675109336113-109336134, 109347310-109347323, 109347853-109347865, 109351988-109352000, 109352075-109352113, 109352142, 109352177-109352218, 109357110-109357133, 109365376-109365394, 109365426, 109365452-109365499, 109367720-109367732, 109367834-109367874, 109368073-109368111, 109368355, 109368428-109368450, 109369543-109369561, 109369882-109369921, 109369945, 109370320, 109370324, 109371385-109371424, 109371656-109371688, 109371711-109371715, 109374933-109374973, 109382063-109382064, 109382069, 109382748-109382793, 109382914-109382946, 109383043-109383059, 109383110, 109383245-109383278, 109383318, 109383491, 109383638, 109383656-109383682, 109383753-109383774, 109383980-109384013, 109384167, 109384449-109384478, 109384505-109384511, 109384560-109384577, 109384628-109384676, 109384754-109384788
537MERTK20.9973333333333383000112656370-112656372, 112786421-112786425
538GLI220.7580340264650311524761121555017-121555024, 121708819-121708848, 121708863-121708870, 121708897-121708928, 121708934, 121708937-121708973, 121708985-121708991, 121708997-121709021, 121712821, 121712934-121712989, 121726320-121726330, 121726427, 121726430, 121727989-121727996, 121728091-121728120, 121728128-121728130, 121728146-121728178, 121729572-121729574, 121729605-121729639, 121743995, 121744171-121744182, 121745788-121745818, 121745826, 121745830, 121745833-121745865, 121745875, 121745910-121745922, 121745927-121745928, 121745932-121745934, 121745939, 121745981-121746012, 121746038-121746098, 121746104-121746145, 121746150-121746175, 121746181, 121746184-121746185, 121746227-121746350, 121746370-121746394, 121746405-121746423, 121746433-121746460, 121746468-121746484, 121746501-121746502, 121746505-121746520, 121746526-121746528, 121746540, 121746547-121746618, 121746646-121746651, 121746654-121746664, 121746675-121746676, 121746680-121746694, 121746711-121746712, 121746714, 121746782-121746788, 121746793, 121746956, 121746959, 121746974, 121747005-121747029, 121747044, 121747155-121747156, 121747161-121747163, 121747166, 121747169, 121747176, 121747188-121747201, 121747335, 121747347, 121747353-121747362, 121747373-121747376, 121747406-121747408, 121747429, 121747468-121747486, 121747525, 121747543-121747544, 121747584-121747592, 121747632-121747687, 121747697-121747703, 121747713-121747721, 121747826-121747832, 121748040-121748050, 121748123-121748136, 121748182
539BIN120.830527497194163021782127806102, 127806151-127806152, 127808464-127808478, 127808739-127808743, 127808801-127808819, 127809937-127809938, 127811481-127811503, 127811534-127811588, 127815063-127815092, 127815116-127815157, 127816622-127816625, 127821530, 127821537, 127825742, 127825799-127825801, 127826605-127826607, 127827603-127827624, 127827638, 127827652, 127828338-127828341, 127828385-127828392, 127834223-127834229, 127834257, 127834265, 127834279-127834280, 127864450-127864488, 127864511-127864519
540PROC20.925685425685431031386128180610-128180651, 128180663-128180673, 128180696-128180717, 128180733-128180742, 128180874, 128183754, 128186170-128186174, 128186358-128186368
541CFC120.67559523809524218672131279058-131279080, 131279630, 131279681, 131279688, 131279700, 131280363-131280401, 131280425-131280473, 131280756, 131280791-131280825, 131280835-131280837, 131280840, 131285299-131285327, 131285374-131285407
542LCT20.99723374827109165784136558249-136558254, 136558295-136558303, 136566532
543MCM620.9987834549878332466136633829-136633831
544NEB20.995444077300499119974152432675-152432680, 152432768-152432775, 152432785-152432809, 152432817-152432868
545GALNT320.9994742376445811902166627110
546SLC25A1220.9960726558664782037172690497, 172690500-172690505, 172691289
547HOXD1320.872093023255811321032176957619-176957633, 176957660-176957695, 176957707-176957752, 176957800-176957822, 176957826, 176957959-176957966, 176958095-176958096, 176958197
548AGPS20.937278705108751241977178257518-178257538, 178257569-178257612, 178257622-178257667, 178257702-178257707, 178257750-178257756
549PRKRA20.972399150743126942179315724-179315749
550TTN20.999940148431896100248179436771, 179437832, 179438285, 179439344, 179442596, 179443386
551CERKL20.9906191369606151599182468615, 182468626, 182468650, 182468653-182468654, 182468696-182468703, 182468781-182468782
552HSPD120.97212543554007481722198351835-198351882
553BMPR220.9916586461341263117203378466, 203378496-203378497, 203379643-203379647, 203421163-203421178, 203421216-203421217
554NDUFS120.9972527472527562184207017175, 207017187-207017190, 207017222
555PNKD20.93955094991364701158219204507, 219204541-219204560, 219204589-219204595, 219204752-219204787, 219204848, 219204851-219204854, 219205458
556BCS1L20.9976190476190531260219526559, 219526567, 219527323
557CYP27A120.98308270676692271596219646962-219646976, 219678901, 219679666-219679670, 219679715-219679718, 219679749, 219679753
558WNT10A20.891547049441791361254219745720-219745746, 219745770-219745774, 219745801-219745825, 219757538, 219757548-219757560, 219757580, 219757599-219757615, 219757644-219757651, 219757658-219757668, 219757869-219757884, 219757893-219757904
559DES20.965322009908491413220283200-220283227, 220283259, 220283264, 220283273-220283280, 220283442-220283446, 220283700-220283701, 220283706-220283709
560OBSL120.907749077490775255691220416280-220416299, 220416418, 220416468-220416475, 220416843-220416873, 220417275-220417292, 220417328-220417398, 220417414-220417419, 220417602-220417607, 220417681-220417688, 220422774, 220422970-220422974, 220423025-220423032, 220423039, 220423042, 220427344-220427351, 220432052-220432055, 220435242, 220435246-220435256, 220435375, 220435391-220435399, 220435518-220435540, 220435548-220435559, 220435584-220435608, 220435616-220435650, 220435660-220435698, 220435710-220435786, 220435830, 220435836-220435880, 220435906-220435954
561CHRND20.892535392535391671554233390926-233390933, 233390947-233390948, 233390953-233390977, 233391239-233391242, 233391353-233391368, 233393661-233393669, 233394670-233394688, 233396131, 233396159-233396173, 233396252-233396276, 233396344-233396347, 233396354, 233396357-233396363, 233398700-233398706, 233398794-233398795, 233399840-233399841, 233399966-233399985
562CHRNG20.96782496782497501554233404789, 233404841, 233405349-233405353, 233406121, 233409107-233409109, 233409149-233409171, 233409227-233409229, 233409233-233409241, 233409482-233409484, 233410337
563COL6A320.99884623452905119534238244868-238244869, 238249095-238249096, 238249100-238249105, 238249166
564AGXT20.727735368956743211179241808289, 241808300, 241808310, 241808316-241808317, 241808341-241808362, 241808369-241808373, 241808389-241808398, 241808403, 241808406-241808408, 241808430-241808435, 241808616-241808623, 241808646-241808689, 241808708-241808731, 241808758, 241810065-241810111, 241810766-241810773, 241810780-241810807, 241812400-241812440, 241813419-241813442, 241813451, 241814599-241814602, 241814607-241814617, 241816965-241816981, 241816984-241816991, 241817019, 241817454, 241817499
565D2HGDH20.746487867177523971566242674875, 242674913-242674920, 242689566, 242689589-242689602, 242689632-242689673, 242689682-242689709, 242690682-242690683, 242690771-242690782, 242695294-242695303, 242695313, 242695319-242695348, 242695359, 242695372-242695395, 242695404-242695407, 242695420-242695429, 242707125-242707132, 242707158-242707160, 242707163-242707198, 242707218-242707379
566AVP200.686868686868691554953063281-3063284, 3063301-3063308, 3063317, 3063340-3063341, 3063346-3063350, 3063389-3063448, 3063633-3063667, 3063687-3063696, 3063751-3063765, 3063775-3063778, 3063812, 3063815-3063824
567PANK2200.923525977816713117133869790-3869796, 3870018-3870024, 3870105, 3870108-3870117, 3870122-3870124, 3870152-3870199, 3870216, 3870257-3870259, 3870262-3870298, 3870362-3870375
568PROKR2200.99826388888889211525283045-5283046
569JAG1200.9945310363686120365710653442-10653446, 10653588, 10654146-10654154, 10654164-10654165, 10654176-10654178
570THBD200.87847222222222210172823028645-23028656, 23028700-23028702, 23028711-23028714, 23028724, 23028727-23028741, 23028967-23028986, 23029060, 23029185, 23029201-23029202, 23029209, 23029218, 23029248, 23029266, 23029323-23029336, 23029370-23029378, 23029499-23029528, 23029596, 23029667-23029698, 23029740-23029772, 23029891, 23029895-23029896, 23030070-23030094
571SNTA1200.69828722002635458151832000102-32000131, 32000217-32000232, 32000381-32000398, 32000425-32000469, 32000577-32000579, 32005666-32005706, 32031117-32031188, 32031194-32031426
572GSS200.9789473684210530142533523395-33523414, 33530360-33530363, 33533855-33533857, 33533860-33533862
573GDF5200.9840637450199224150634021844-34021850, 34022361-34022366, 34022387, 34025162-34025170, 34025458
574SAMHD1200.995215311004789188135526847, 35545396-35545400, 35547813, 35559211, 35579939
575HNF4A200.9670175438596547142543047103, 43052727-43052747, 43052773-43052775, 43052778-43052799
576ADA200.9404761904761965109243252945-43252951, 43255104-43255133, 43255155, 43255192-43255199, 43257765-43257773, 43264927-43264928, 43280216-43280219, 43280227-43280230
577CTSA200.69939879759519450149744519965-44520018, 44520208-44520300, 44520328-44520357, 44520365-44520401, 44520564-44520569, 44520610, 44520613-44520616, 44520666, 44520940, 44520949-44520962, 44521066, 44521079-44521085, 44521123, 44521859-44521881, 44522642-44522643, 44523311-44523365, 44523462-44523467, 44523522-44523530, 44523535, 44523633-44523665, 44523716-44523756, 44526371-44526374, 44526377-44526381, 44526409, 44526413-44526423, 44526648, 44526679-44526686
578SALL4200.96837444655281100316250405480-50405484, 50405556, 50406645, 50406969-50406971, 50406975, 50407060-50407062, 50407259-50407260, 50407808, 50407862-50407886, 50408120, 50408276-50408278, 50408313-50408332, 50408337-50408339, 50408342-50408352, 50408447-50408456, 50408463-50408465, 50418823-50418829
579PCK1200.999464954521131186956138229
580GNAS200.5040650406504136673857415162-57415199, 57415220-57415254, 57415269-57415298, 57415316-57415375, 57415391-57415424, 57415445-57415472, 57415487-57415488, 57415494, 57415499-57415504, 57415542-57415552, 57415556, 57415600-57415633, 57415660, 57415663, 57415689, 57415711-57415733, 57415743, 57415760-57415787, 57415812-57415821, 57415838, 57415859-57415872, 57415894-57415899
581GNAS200.74598587026333791311457428334, 57428338, 57428374, 57428379-57428388, 57428430-57428447, 57428451-57428458, 57428637-57428677, 57428717, 57428744-57428779, 57428838-57428856, 57428868, 57428871-57428875, 57428906-57428927, 57428954-57428966, 57429050-57429106, 57429124, 57429198-57429238, 57429265-57429275, 57429339-57429341, 57429353, 57429419-57429425, 57429452-57429501, 57429533, 57429536, 57429547, 57429581-57429596, 57429623-57429720, 57429726-57429769, 57429787-57429793, 57429805-57429808, 57429816, 57429853-57429866, 57429869-57429886, 57429890, 57429911-57429912, 57429953-57430006, 57430023-57430029, 57430032-57430034, 57430054-57430059, 57430073-57430084, 57430092-57430118, 57430154-57430170, 57430190-57430223, 57430249-57430276, 57430308-57430329, 57430337-57430340, 57430368-57430388
582EDN3200.941422594142264271757875868-57875893, 57875914-57875919, 57896190, 57896240-57896248
583COL9A3200.179075425790751687205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450574-61450645, 61451281-61451309, 61451319-61451334, 61452533-61452568, 61452859-61452882, 61453109-61453162, 61453463-61453516, 61453943-61453984, 61455797-61455853, 61456320-61456373, 61457169-61457222, 61457556-61457609, 61458119-61458172, 61458593-61458646, 61459275-61459328, 61460116-61460169, 61460275-61460328, 61460807-61460840, 61460849-61460851, 61460980-61461019, 61461118-61461133, 61461147-61461149, 61461154-61461158, 61461160-61461171, 61461712-61461765, 61461869-61461940, 61463511-61463541, 61464372-61464416, 61467303-61467305, 61467539-61467576, 61467580, 61467591-61467593, 61467609-61467654, 61467683-61467685, 61467830-61467836, 61467846-61467857, 61467883-61467884, 61468435-61468494, 61468504-61468510, 61468521-61468525, 61468536-61468617, 61470060-61470061, 61470089-61470113, 61471920-61471964, 61471991-61472018, 61472042-61472043, 61472055-61472056
584CHRNA4200.1979830148621511188461978090-61978182, 61978189-61978215, 61981005-61981158, 61981170-61981176, 61981185-61981186, 61981189, 61981201-61981217, 61981231-61981385, 61981393-61981421, 61981435-61981506, 61981524-61981525, 61981529-61981533, 61981536-61981548, 61981554, 61981570-61981646, 61981662-61981693, 61981700-61981751, 61981773, 61981776, 61981810, 61981820-61981876, 61981888-61981987, 61982017-61982050, 61982059-61982111, 61982121-61982133, 61982151-61982173, 61982186-61982202, 61982222-61982276, 61982294-61982296, 61982300-61982302, 61982305-61982306, 61982326-61982341, 61982368-61982377, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
585KCNQ2200.195112638411612108261962037997-62038089, 62038100-62038153, 62038175-62038203, 62038210-62038547, 62038561-62038728, 62039766, 62039779, 62039789-62039844, 62039858-62039889, 62044820-62044827, 62044856-62044934, 62045459-62045461, 62045474-62045477, 62046256-62046353, 62046364-62046368, 62046377-62046383, 62046388, 62046391-62046414, 62046431, 62046435, 62046439, 62046442, 62046448, 62046451, 62051009-62051025, 62055541-62055559, 62059720-62059733, 62059746-62059788, 62065162-62065212, 62065223-62065242, 62069978-62070018, 62070030-62070073, 62070951-62070996, 62071006-62071061, 62073759-62073818, 62073827-62073874, 62076012-62076043, 62076050-62076056, 62076066-62076177, 62076183-62076187, 62076594-62076717, 62078100-62078165, 62103521-62103816
586SOX182001155115562679519-62680315, 62680512-62680869
587APP210.998270644185044231327542916-27542918, 27542935
588IFNGR2210.86587771203156136101434775850-34775922, 34793837-34793843, 34793923-34793941, 34799288-34799289, 34799292-34799317, 34799321, 34809179-34809185, 34809190
589RCAN1210.8524374176548111275935987059-35987061, 35987172-35987265, 35987296-35987310
590RUNX1210.9909909909909913144336164444-36164447, 36164452-36164453, 36164457-36164458, 36164605, 36164612, 36259272, 36259382, 36259392
591CLDN14210.93754572037833274-37833278, 37833435, 37833518-37833530, 37833602-37833610, 37833818, 37833821, 37833827-37833828, 37833831-37833834, 37833980-37833988
592HLCS210.999082989454382218138128989, 38309488
593TMPRSS3210.9494505494505569136543795840-43795855, 43795968-43795977, 43796692-43796724, 43796787-43796795, 43803174
594CBS210.7536231884058408165644474005-44474011, 44474052-44474093, 44476913-44476947, 44476973-44476975, 44476978-44476983, 44476990-44476997, 44478961, 44478973-44478978, 44478994-44479012, 44479027-44479045, 44479346-44479348, 44479353-44479354, 44479357-44479363, 44479384, 44480573-44480581, 44480610-44480654, 44483066-44483103, 44485321-44485323, 44485515-44485555, 44485621, 44485749, 44485771-44485799, 44486368, 44486379, 44486413, 44488679, 44488685, 44488688-44488694, 44492122-44492163, 44492233-44492254, 44492264-44492266, 44492271-44492272, 44492303
595CSTB210.851851851851854429745196085-45196128
596AIRE210.00427350427350431631163845705890-45706021, 45706440-45706614, 45706861-45707016, 45707400-45707417, 45707425-45707474, 45708228-45708341, 45709540-45709685, 45709871-45709951, 45710978-45711093, 45712185-45712284, 45712876-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
597ITGB2210.461904761904761243231046306662-46306666, 46306712-46306713, 46306724-46306793, 46308608-46308810, 46309191-46309213, 46309235-46309367, 46309374-46309380, 46309390-46309410, 46309893-46309923, 46309942-46309978, 46310014-46310072, 46310085-46310134, 46311724-46311838, 46311858-46311882, 46311897-46311911, 46313336-46313374, 46313382-46313459, 46314903, 46314907-46314908, 46314911, 46314944, 46314958-46314959, 46314972-46314975, 46319045-46319069, 46320235-46320302, 46320310-46320324, 46320370-46320390, 46321422-46321443, 46321449, 46321481, 46321542-46321543, 46321546, 46321577, 46321621, 46321641-46321644, 46326830-46326868, 46326934-46326973, 46327005-46327010, 46330206-46330268, 46330674, 46330688-46330695
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737COL11A260.9969295720591116521133137169, 33139328, 33143374-33143384, 33151963-33151965
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739FANCE60.9466170080695286161135420373-35420383, 35420396-35420462, 35423579-35423583, 35423587, 35425366, 35434022
740TULP160.9754450583179940162935479574, 35479959-35479984, 35479996, 35480033, 35480589-35480590, 35480601-35480609
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742MOCS160.74986917844061478191139874208-39874214, 39874303, 39874336-39874338, 39874342, 39874425-39874430, 39874552, 39874641-39874649, 39874690, 39881116-39881118, 39881561, 39881564, 39883813, 39883818-39883822, 39883829-39883830, 39883851, 39883896-39883911, 39883952, 39893422-39893589, 39895068-39895317
743GUCA1B60.99336650082919460342152577-42152580
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749MUT60.997780736795385225349409565-49409569
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760LFNG70.1271929824561499511402559496-2559927, 2564329-2564370, 2564377, 2564870, 2564875-2564876, 2564882-2564950, 2565048-2565201, 2565319-2565391, 2565398-2565401, 2565878-2565895, 2565899-2565903, 2565921-2565938, 2565952-2565954, 2565959-2566002, 2566005-2566007, 2566015, 2566043, 2566470-2566498, 2566514-2566555, 2566780-2566801, 2566816-2566846
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764CYCS70.880503144654093831825163384-25163421
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818GALT90.995614035087725114034646744-34646746, 34647525, 34647530
819VCP90.998347790169354242135066719, 35072348-35072350
820FANCG90.91599785981808157186935074461, 35074950, 35075000-35075012, 35075046-35075050, 35075544, 35075990-35076003, 35076743, 35076747, 35076771-35076788, 35076866-35076867, 35076968-35076973, 35077049-35077054, 35077068, 35077079-35077087, 35078143-35078150, 35078215-35078216, 35078308-35078327, 35078615-35078618, 35078711-35078725, 35079162, 35079195-35079222
821TPM290.906432748538018085535682095, 35682098, 35685672-35685673, 35685678-35685693, 35685722-35685760, 35689701-35689712, 35689735-35689743
822NPR290.999681933842241314435792413
823GNE90.999557913351021226236249195
824GRHPR90.930091185410336998737422821-37422830, 37424850, 37424856, 37424865-37424880, 37424906-37424919, 37424935-37424948, 37424961, 37425968-37425977, 37426588-37426589
825FXN90.99526066350711363371668077, 71668083-71668084
826TMC190.999561979851071228375369720
827TRPM690.999835228208931606977442714
828AUH90.995098039215695102094124149-94124152, 94124160
829ROR290.9728107344632877283294495416-94495418, 94495439-94495448, 94712182-94712245
830FBP190.9616519174041339101797365720, 97365759-97365761, 97365768-97365769, 97365809, 97365838-97365839, 97365846-97365849, 97401423-97401447, 97401452
831FANCC90.995229576624938167797873782-97873789
832PTCH190.982274401473377434498220386-98220389, 98231124, 98270472, 98270476, 98270479-98270485, 98270509-98270516, 98270569-98270574, 98270587-98270631, 98270640-98270643
833FOXE190.622994652406424231122100616197-100616212, 100616266-100616306, 100616313-100616323, 100616326-100616327, 100616346-100616383, 100616396, 100616407-100616425, 100616428, 100616529, 100616623-100616650, 100616681-100616766, 100616781-100616837, 100616871, 100616880-100616889, 100616945-100616986, 100617037-100617054, 100617087, 100617101-100617107, 100617138-100617176, 100617285-100617288
834TGFBR190.98941798941799161512101867522-101867527, 101867538-101867546, 101867563
835ABCA190.9988211022693886786107583709-107583716
836MUSK90.9969348659003882610113547811-113547814, 113547936-113547939
837ALAD90.997985901309162993116152887-116152888
838DFNB3190.98788546255507332724117165565, 117168640-117168650, 117168981, 117168984-117168996, 117241011-117241017
839GSN90.9978714346530452349124062230, 124074752-124074755
840NR5A190.364357864357868811386127245041-127245071, 127245090-127245118, 127245131-127245139, 127245149, 127245160-127245184, 127245195-127245200, 127245218-127245227, 127245269-127245272, 127253415-127253446, 127253452-127253507, 127255309-127255354, 127255364-127255382, 127255388, 127255411-127255413, 127262369-127262375, 127262399-127262407, 127262440-127262482, 127262498-127262570, 127262589-127262640, 127262667-127262668, 127262671, 127262681-127262692, 127262718-127262749, 127262762, 127262768-127262791, 127262795, 127262801-127262840, 127262856, 127262863-127262888, 127262913-127262941, 127262954-127262964, 127262993, 127265358-127265499, 127265573-127265674
841LMX1B90.91957104557641901119129376800-129376867, 129377662-129377676, 129377752-129377755, 129455587-129455589
842STXBP190.99448123620309101812130374706-130374715
843ENG90.712696004046545681977130577961-130577980, 130577993-130578042, 130578052-130578056, 130578067, 130578233-130578234, 130578238-130578270, 130578276, 130578304-130578332, 130579458-130579482, 130580399, 130580404-130580406, 130580523-130580567, 130580595-130580644, 130580995-130581014, 130581062, 130581109, 130581901-130581913, 130582315-130582316, 130586636, 130587085-130587108, 130587131-130587174, 130587224-130587225, 130587231-130587232, 130587238, 130587527-130587557, 130587599-130587634, 130588013-130588031, 130588043-130588112, 130616572-130616607
844GLE190.96948020982356642097131267169-131267171, 131285038, 131285559-131285560, 131285983-131285985, 131285995, 131285998-131285999, 131286002, 131286005-131286007, 131286013, 131286025-131286026, 131295808-131295810, 131295916, 131296051, 131298713-131298751, 131300369
845DOLK90.724180581323444461617131708015-131708042, 131708135-131708145, 131708167-131708179, 131708242, 131708281-131708285, 131708336-131708344, 131708464-131708488, 131708518-131708554, 131708623-131708631, 131708668, 131708712-131708719, 131708735, 131708777-131708778, 131708848, 131708862, 131708879-131708887, 131708890-131708913, 131708916, 131708990-131708992, 131709009-131709041, 131709123-131709150, 131709219-131709240, 131709274-131709335, 131709352-131709355, 131709381-131709382, 131709386-131709389, 131709409-131709421, 131709428, 131709479-131709502, 131709519-131709582
846TOR1A90.9089089089089191999132586211-132586259, 132586323-132586364
847ASS190.91364003228411071239133327616, 133327655, 133327659-133327660, 133327701-133327720, 133333801-133333803, 133333808, 133333851-133333897, 133333966-133333976, 133346227-133346234, 133352330-133352331, 133364841-133364851
848POMT190.939853076216711312178134393900-134393924, 134394256-134394269, 134394324, 134394336-134394339, 134394806-134394839, 134395559-134395560, 134395575-134395580, 134396758-134396759, 134397449-134397462, 134397588-134397594, 134398337-134398347, 134398380-134398390
849TSC190.99628040057225133495135771835-135771839, 135772838-135772844, 135779184
850CEL90.581241743725239512271135937388, 135937397-135937437, 135937453-135937455, 135939795-135939838, 135939940-135939941, 135940045, 135940076-135940114, 135940144, 135940427-135940430, 135940440-135940461, 135940577-135940578, 135940602, 135940604-135940606, 135941968-135941974, 135942022-135942028, 135942237-135942240, 135942318-135942322, 135942523-135942565, 135944059, 135944098, 135944554-135944589, 135945985-135946018, 135946387-135946400, 135946444-135946477, 135946497-135946556, 135946567-135947107
851SURF190.4296788482835515903136218792, 136218795-136218801, 136218826, 136218832, 136218916-136218933, 136218939, 136218942, 136218956-136218964, 136218984, 136218997, 136219337, 136219344-136219346, 136219351-136219352, 136219364-136219365, 136219414-136219420, 136219450-136219463, 136219551-136219561, 136220619, 136220622-136220649, 136220660-136220751, 136220767-136220782, 136220788, 136221514-136221529, 136221552-136221596, 136221679-136221692, 136221698-136221812, 136223124-136223175, 136223276-136223329
852ADAMTS1390.307889822595729654284136287637, 136287644, 136288231-136288237, 136288240, 136289543-136289564, 136290649-136290659, 136290665-136290666, 136290669, 136290698, 136291060, 136291063, 136291074, 136291162, 136291325-136291326, 136291373-136291383, 136291397-136291398, 136293754-136293891, 136295059-136295221, 136297709-136297813, 136298498-136298518, 136298524-136298527, 136298539-136298544, 136298553-136298556, 136298572-136298573, 136298583-136298618, 136298627, 136298642-136298649, 136298761-136298793, 136298804-136298824, 136301949, 136301978-136302075, 136302869-136302891, 136302905-136303012, 136303366-136303393, 136303415-136303486, 136304494-136304497, 136304532-136304553, 136305465-136305489, 136305498-136305542, 136305557-136305558, 136305571-136305575, 136305586-136305591, 136305597, 136305604-136305609, 136305616-136305646, 136307520-136307593, 136307603-136307655, 136307735-136307864, 136308497-136308524, 136308536-136308553, 136308557-136308558, 136308567-136308593, 136308597, 136308606-136308682, 136310001-136310029, 136310043-136310101, 136310116-136310173, 136310820-136310891, 136310909, 136310913-136310940, 136313720-136313767, 136313784-136313849, 136314904, 136314921-136314926, 136314932, 136314935-136314947, 136314972-136315014, 136315030-136315049, 136315056-136315086, 136319537-136319546, 136319580-136319619, 136319634-136319734, 136320407-136320567, 136320591-136320725, 136321191-136321337, 136321665-136321670, 136321679-136321684, 136321689, 136321697-136321806, 136321809-136321811, 136321817, 136321819-136321820, 136321831-136321841, 136323064-136323115, 136323127-136323174, 136323200, 136323206-136323216, 136324098-136324099, 136324102, 136324123-136324198, 136324228-136324244, 136324251-136324302
853DBH90.696332254584685631854136501508-136501526, 136501558-136501573, 136501658-136501665, 136501669-136501674, 136501796-136501810, 136504987-136504993, 136505045-136505071, 136505110-136505114, 136507507-136507518, 136508682-136508689, 136508693, 136513048-136513093, 136513110-136513134, 136516756-136516814, 136516833-136516884, 136517368-136517384, 136518084-136518116, 136521669-136521671, 136521674, 136521697-136521772, 136522215-136522220, 136522233-136522313, 136522322-136522351, 136523492, 136523523-136523524, 136523541-136523547
854SARDH90.706202393906428102757136529096, 136529127-136529131, 136529134, 136531865-136531897, 136531920-136531926, 136531953-136531983, 136535706-136535874, 136536657-136536671, 136536679, 136536683, 136536694-136536759, 136536765-136536773, 136536793, 136536796-136536812, 136555502-136555538, 136555584, 136555602-136555649, 136559380-136559493, 136561352, 136561421-136561423, 136568038-136568053, 136568080-136568112, 136570093-136570107, 136573409-136573448, 136573460-136573461, 136573498, 136573501, 136573541, 136577776, 136577779-136577794, 136577797, 136577819-136577831, 136578161-136578176, 136578210-136578223, 136582480, 136582566-136582567, 136582571-136582577, 136584060-136584071, 136584086-136584097, 136584122-136584123, 136584145-136584148, 136584157-136584164, 136595211-136595214, 136597605-136597610, 136597722-136597723, 136599090, 136599100, 136599172, 136599184, 136599198, 136599206, 136599283-136599295
855COL5A190.3907920971542533615517137534034-137534142, 137582758-137582824, 137582837-137582925, 137591755-137591968, 137593017-137593179, 137619112-137619121, 137619187-137619243, 137620516-137620572, 137620599-137620653, 137622094, 137622131-137622139, 137622147-137622155, 137622159-137622163, 137622199, 137622202, 137622223-137622254, 137622270, 137622277-137622281, 137622310, 137622314, 137623342-137623366, 137623379-137623403, 137623418-137623441, 137623460-137623487, 137623934-137623970, 137630320-137630361, 137630592, 137630618-137630646, 137642388-137642462, 137642636-137642728, 137644435-137644491, 137645696-137645749, 137646119-137646172, 137648611-137648664, 137650103-137650142, 137653771-137653816, 137655539-137655583, 137657548-137657580, 137658300-137658305, 137658315-137658336, 137658846-137658862, 137658891, 137658894, 137659156-137659163, 137659195-137659200, 137660256-137660301, 137664636-137664680, 137666705-137666716, 137666722-137666758, 137671948-137671992, 137674513-137674515, 137674529-137674564, 137676835-137676932, 137676938-137676942, 137677841-137677894, 137681009-137681054, 137686948, 137686955, 137686958-137686972, 137687108, 137687120-137687161, 137688220-137688264, 137688700-137688701, 137688720-137688721, 137688741-137688747, 137690254-137690255, 137690281-137690298, 137693800-137693839, 137694734-137694762, 137694768-137694841, 137696821-137696910, 137697007-137697011, 137697028-137697053, 137698039, 137698058-137698082, 137698089-137698095, 137698098-137698129, 137701056-137701063, 137701067, 137702108-137702109, 137702114-137702115, 137702144-137702154, 137703233-137703238, 137703338-137703352, 137703362-137703363, 137703366, 137703376-137703387, 137703421-137703422, 137703427, 137703439-137703440, 137704306, 137704321-137704342, 137704452, 137704455, 137704459-137704495, 137704514, 137704528-137704553, 137705829-137705882, 137706649, 137706664-137706668, 137706672, 137706679-137706687, 137706694-137706698, 137706705-137706750, 137707422-137707436, 137707781-137707814, 137707825-137707828, 137708872-137708918, 137709624-137709662, 137710502-137710540, 137710546-137710609, 137710694-137710697, 137710705-137710706, 137710711-137710712, 137710720-137710747, 137710846-137710857, 137711969-137712032, 137712045-137712046, 137713943, 137713961-137713969, 137713974-137713975, 137713978, 137714844-137714845, 137715287, 137716504, 137716512, 137716515, 137716587-137716589, 137716672-137716686, 137717746, 137726871, 137726882-137726939, 137726971-137726988, 137734085-137734087, 137734097-137734106
856LHX390.306865177832928381209139089171-139089419, 139089459-139089494, 139089506-139089509, 139089513, 139089523-139089568, 139089576-139089589, 139090498-139090505, 139090536, 139090545-139090584, 139090593-139090602, 139090605-139090627, 139090640-139090666, 139090754-139090905, 139091550, 139091584, 139091589-139091623, 139091650-139091724, 139092477, 139092480-139092481, 139092514-139092530, 139092581, 139094792-139094885
857INPP5E90.2475452196382414561935139324248, 139324729, 139324775, 139324811, 139325455-139325479, 139325490-139325521, 139325555-139325569, 139326276-139326437, 139326931-139327038, 139327408-139327426, 139327441, 139327465-139327467, 139327492-139327527, 139327607-139327645, 139327653-139327660, 139327667-139327731, 139328489-139328561, 139328572-139328586, 139329192-139329230, 139329251-139329315, 139333060-139333231, 139333252-139333351, 139333373-139333376, 139333386-139333537, 139333553-139333871
858NOTCH190.01473656755346975557668139390523-139390663, 139390671-139390705, 139390714-139390734, 139390741-139391073, 139391079-139392010, 139393351-139393389, 139393410-139393448, 139393564-139393570, 139393595-139393711, 139395004-139395299, 139396200-139396365, 139396453-139396468, 139396475-139396540, 139396724-139396738, 139396752-139396940, 139397634-139397782, 139399125-139399556, 139399762-139400333, 139400979-139401091, 139401168-139401294, 139401303-139401425, 139401757-139401801, 139401808-139401817, 139401828-139401889, 139402407-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404413, 139405105-139405257, 139405604-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
859AGPAT290.084826762246117766837139568204-139568216, 139568224-139568379, 139569187-139569212, 139569234, 139569237, 139569253-139569259, 139571044-139571123, 139571130-139571132, 139571413-139571588, 139571875-139571915, 139571929-139572008, 139581628-139581809
860SLC34A390.04517191800140126175-140126233, 140126547-140126576, 140126583-140126613, 140127027-140127155, 140127236-140127318, 140127327-140127379, 140127456-140127567, 140127661-140127760, 140127770-140127809, 140127819-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129183, 140130404-140130868
861EHMT190.5914806261226615923897140513481-140513501, 140605419-140605482, 140611078-140611634, 140622900-140622902, 140622929-140622967, 140638520-140638526, 140671117-140671126, 140671255-140671282, 140672384-140672398, 140672432-140672453, 140674159-140674162, 140695390-140695398, 140705916, 140705919-140705986, 140705993-140706067, 140707460-140707469, 140707495-140707510, 140707557-140707625, 140707858-140707873, 140707880, 140707924-140707953, 140707957-140707959, 140707971-140707982, 140708883-140708960, 140710399-140710400, 140710413-140710427, 140710434, 140710475-140710484, 140710487, 140710493-140710500, 140710510-140710514, 140711891, 140711930, 140711943-140711977, 140712555-140712558, 140712569-140712571, 140712576-140712579, 140712584, 140728801-140728911, 140728919-140728976, 140729225-140729251, 140729259-140729405
862SHOXX0.41183162684869517879591633-591909, 595353-595519, 595537-595561, 601742-601748, 601780-601789, 605126-605150, 605229, 605248-605251, 605334
863CSF2RAX0.22911877394636100613051401603-1401611, 1401630-1401672, 1404671-1404806, 1404812-1404813, 1407412, 1407425-1407464, 1407493-1407518, 1407677-1407706, 1407724-1407740, 1407751, 1407764-1407781, 1409230-1409258, 1409279-1409402, 1413221-1413354, 1414320-1414349, 1419396-1419519, 1422154-1422255, 1422816-1422829, 1422838-1422839, 1422842-1422843, 1422845-1422869, 1422890-1422912, 1424363-1424378, 1424388-1424420, 1428295-1428303, 1428314-1428322, 1428358-1428364
864ARSEX0.9954802259887817702852951, 2853015-2853021
865KAL1X0.99706314243759620438699982, 8699985, 8700005-8700007, 8700010
866GPR143X0.979607843137252612759733695, 9733701-9733711, 9733718-9733730, 9733792
867TRAPPC2X0.99527186761229242313734126-13734127
868CDKL5X0.999353378596832309318668531-18668532
869PHKA2X0.9894822006472539370818911773, 18912433-18912434, 18912438-18912450, 18912511, 18912514, 18915387, 18915390, 18915393-18915395, 18969253, 19001978-19001980, 19002012-19002023
870SMSX0.9554950045413349110121958943-21958991
871ARXX0.80639431616341327168925031268-25031271, 25031306-25031320, 25031360, 25031424-25031443, 25031488-25031496, 25031522-25031593, 25031632-25031690, 25031697-25031812, 25031823, 25031826-25031828, 25031831-25031832, 25031836, 25031872-25031894, 25033837
872RPGRX0.661462850534841171345938144800-38144813, 38144863-38144868, 38144931-38144966, 38144972-38144994, 38145029-38145122, 38145191, 38145207-38145430, 38145437-38145908, 38145922, 38145949-38146007, 38146020-38146034, 38146059, 38146079-38146087, 38146146-38146169, 38146277-38146279, 38146352-38146360, 38146381-38146403, 38146453-38146457, 38146461-38146462, 38147114-38147195, 38147215-38147262, 38147268, 38147278-38147294, 38150276-38150277
873BCORX0.9850037965072179526839921436, 39921441-39921445, 39921999, 39922005, 39922049, 39922127-39922132, 39923045-39923047, 39923601-39923620, 39930248-39930257, 39930379, 39931644, 39931900-39931902, 39932163-39932169, 39932183, 39932397, 39932410, 39932929, 39933108-39933111, 39933368, 39933633, 39933638, 39933889, 39933893, 39933967-39933972
874ATP6AP2X0.992402659069338105340440318-40440325
875NYXX0.4640387275242775144641332744-41332767, 41332783-41332887, 41332916-41332959, 41332986-41333011, 41333014, 41333041-41333043, 41333061-41333120, 41333127-41333138, 41333145-41333180, 41333230, 41333233-41333382, 41333402-41333452, 41333491-41333517, 41333526-41333527, 41333529-41333572, 41333585-41333591, 41333646-41333679, 41333734-41333762, 41333774, 41333804-41333846, 41333855-41333859, 41333941-41334000, 41334065, 41334118-41334126
876CASKX0.999638467100511276641412988
877FTSJ1X0.989898989898991099048341054-48341058, 48341374-48341378
878PORCNX0.9776334776334831138648370716-48370719, 48370755, 48370813, 48370839, 48370858, 48370999, 48371015-48371031, 48371035, 48372523, 48372679, 48372929, 48374149
879EBPX0.998556998557169348385377
880PQBP1X0.99874686716792179848760290
881SYPX0.985138004246281494249047998-49047999, 49048125, 49056630-49056640
882CACNA1FX0.89871924502865601593449061601-49061605, 49061620-49061621, 49061637-49061665, 49061673-49061722, 49061740-49061754, 49061779-49061784, 49061795, 49062087-49062115, 49062215-49062241, 49062972-49062979, 49062989, 49062997, 49063006-49063010, 49063038, 49063051-49063076, 49063189-49063246, 49063282-49063315, 49063508, 49063519-49063522, 49063532-49063540, 49065027, 49065042-49065043, 49065052-49065056, 49065753-49065763, 49065770, 49065773, 49065779-49065793, 49065831-49065832, 49065846-49065848, 49066089-49066099, 49066159-49066200, 49066211-49066213, 49066217-49066219, 49066401-49066413, 49066425-49066451, 49066484-49066502, 49066761-49066775, 49066858-49066863, 49067069-49067081, 49067092, 49067103-49067111, 49067114, 49067428, 49067498-49067516, 49067914-49067941, 49068358-49068364, 49068399-49068424, 49068439-49068440, 49068759, 49069442
883FOXP3X0.9722222222222236129649107903-49107906, 49108146, 49108152-49108153, 49110446-49110458, 49110503, 49110523, 49111890, 49111923, 49111967-49111970, 49113908, 49114172, 49114757-49114758, 49114892-49114895
884SMC1AX0.999189627228533370253435994, 53435997, 53440358
885FGD1X0.95738045738046123288654494246-54494267, 54496778-54496779, 54497034-54497036, 54521559-54521565, 54521571-54521580, 54521614-54521620, 54521710-54521711, 54521767-54521776, 54521779-54521809, 54521815-54521834, 54521839-54521840, 54521858-54521864
886ARX0.9793702497285657276366765159-66765185, 66765188-66765212, 66765453, 66766196, 66766357-66766359
887EDAX0.995748299319735117669247795-69247799
888DLG3X0.997147514262437245469665287, 69665292-69665297
889MED12X0.98178757269666119653470360635, 70360639-70360641, 70360653, 70360669-70360671, 70360674-70360679, 70360691, 70361082-70361185
890NLGN3X0.997989545637315248770367827, 70367835-70367836, 70368027, 70368040
891GJB1X0.99765258215962285270444302-70444303
892TAF1X0.97395283350933148568270586165-70586252, 70586262-70586270, 70586278, 70586287-70586309, 70587401, 70588011-70588012, 70588015-70588020, 70617108-70617123, 70641159-70641160
893PHKA1X0.999727668845321367271855090
894SLC16A2X0.9918566775244315184273641389-73641391, 73641397-73641407, 73641740
895ATP7AX0.999777925827231450377258633
896BRWD3X0.999260491772974540980064949-80064952
897PCDH19X0.9891107078039936330699662482-99662486, 99662548, 99663351, 99663436-99663442, 99663556-99663577
898TIMM8AX0.979591836734696294100603546-100603551
899UPF3BX0.98553719008264211452118968891-118968911
900NDUFA1X0.976525821596245213119010479-119010481, 119010494-119010495
901CUL4BX0.99197665937272222742119694086-119694098, 119694346-119694354
902XIAPX0.98192771084337271494123019534, 123019554, 123019591, 123019739-123019755, 123040945-123040951
903GPC3X0.9776247848537391743133119303, 133119439-133119476
904ZIC3X0.98575498575499201404136648985-136648987, 136651131, 136651136-136651143, 136651217-136651224
905SOX3X0.82550335570472341341139585957-139585958, 139585979-139586011, 139586052-139586054, 139586059, 139586137-139586154, 139586183-139586193, 139586277-139586278, 139586462-139586510, 139586517-139586520, 139586559-139586572, 139586575, 139586641-139586708, 139586799-139586812, 139586868-139586871, 139587040, 139587097, 139587102-139587109
906AFF2X0.998983739837443936147582626-147582629
907NSDHLX0.9991087344028511122152036217
908FAM58AX0.79863945578231148735152858070-152858073, 152860007, 152860030, 152861487-152861515, 152861613-152861625, 152864420-152864480, 152864483-152864521
909SLC6A8X0.2468553459119514371908152954030-152954291, 152955860-152955869, 152955875-152955878, 152955920-152955928, 152955931-152955947, 152955952-152955961, 152956759-152956775, 152956789-152956798, 152956829-152956830, 152956836, 152956839, 152956872-152956920, 152956953-152956966, 152956969-152956972, 152956980-152957008, 152957430-152957481, 152957509-152957525, 152957561-152957562, 152958500-152958511, 152958520-152958575, 152958593, 152958604-152958630, 152958718-152958727, 152958739-152958775, 152958792-152958821, 152958918-152958947, 152958959, 152958964, 152958973-152959007, 152959018, 152959040, 152959366-152959367, 152959381-152959384, 152959388-152959395, 152959399-152959404, 152959411-152959416, 152959430-152959472, 152959585-152959664, 152959672-152959722, 152959799-152959901, 152959988-152960010, 152960019-152960088, 152960174-152960344, 152960529-152960609, 152960633-152960669
910ABCD1X0.1921358355674718082238152990722-152991047, 152991055-152991621, 152994688, 152994712, 152994836-152994838, 153001566-153001708, 153001799-153001860, 153001876-153001878, 153001909-153001952, 153002611-153002628, 153002641-153002642, 153002662-153002664, 153002671-153002705, 153005546-153005586, 153005595-153005636, 153005646-153005660, 153005668-153005691, 153006028-153006061, 153006073-153006105, 153006128-153006158, 153006165-153006173, 153008441-153008463, 153008471-153008486, 153008510-153008525, 153008675-153008735, 153008752-153008800, 153008943-153008962, 153008979-153008987, 153009013-153009189
911L1CAMX0.3359830418653925063774153128118-153128134, 153128141-153128154, 153128183-153128216, 153128242-153128304, 153128315-153128349, 153128823-153128834, 153128932-153128974, 153128989, 153128992, 153129001-153129004, 153129338-153129472, 153129777, 153129781-153129785, 153129789, 153129810, 153129870-153129905, 153129916-153129917, 153129926-153129932, 153130040-153130044, 153130080-153130127, 153130130-153130131, 153130137, 153130144-153130159, 153130276-153130286, 153130316, 153130319-153130343, 153130375-153130397, 153130415, 153130543-153130558, 153130588-153130632, 153130639-153130665, 153130760-153130762, 153130765-153130784, 153130791, 153130803-153130805, 153130809-153130811, 153130838-153130844, 153130924, 153130933, 153130945-153130955, 153131159-153131178, 153131186-153131254, 153132104-153132126, 153132133-153132153, 153132191, 153132194, 153132238-153132244, 153132250-153132254, 153132261-153132326, 153132509-153132520, 153132537-153132557, 153132569-153132579, 153132811-153132839, 153132848-153132906, 153132933-153132943, 153132982-153133008, 153133255-153133353, 153133455-153133502, 153133505-153133524, 153133542-153133577, 153133757-153133837, 153133848, 153133857-153133867, 153134016-153134027, 153134056-153134106, 153134112, 153134119-153134182, 153134296-153134322, 153134349-153134359, 153134362-153134363, 153134406-153134407, 153134975-153135118, 153135258-153135389, 153135511-153135608, 153135627, 153135632-153135634, 153135645-153135646, 153135649, 153135672-153135695, 153135843-153135954, 153136248-153136252, 153136254-153136290, 153136293-153136301, 153136320-153136415, 153136512-153136634, 153137607-153137659, 153137761, 153137776-153137802, 153138047-153138072, 153138137-153138152, 153141216-153141265, 153141278-153141291
912AVPR2X0.865591397849461501116153170621, 153170999, 153171068-153171085, 153171146-153171181, 153171242-153171263, 153171313, 153171316-153171318, 153171388-153171412, 153171528-153171540, 153171547, 153171693, 153171698, 153171749-153171756, 153172078-153172095, 153172142
913MECP2X0.926519706078821101497153296101-153296121, 153296184-153296186, 153296217, 153297858-153297880, 153297888, 153363062-153363122
914OPN1LWX0.9917808219178191095153416206-153416212, 153418541, 153421877
915OPN1MWX0.9990867579908711095153459003
916FLNAX0.3549848942598251247944153577223-153577230, 153577246, 153577251, 153577297-153577299, 153577325-153577347, 153577381-153577404, 153577741-153577789, 153577798-153577826, 153577833-153577881, 153577887-153577907, 153577920-153577933, 153578025-153578067, 153578108-153578110, 153578120-153578141, 153578203-153578235, 153578425-153578431, 153578437, 153578442-153578445, 153578454, 153578470, 153578480, 153578523, 153578557-153578558, 153578565, 153579286-153579330, 153579368-153579370, 153579961-153579983, 153580010-153580017, 153580026, 153580058-153580063, 153580261-153580268, 153580308-153580342, 153580365-153580389, 153580551-153580554, 153580561-153580571, 153580581-153580590, 153580604-153580641, 153580648-153580668, 153580675-153580717, 153580746, 153580770-153580815, 153580945-153580966, 153580971-153580975, 153580986, 153581001-153581043, 153581140-153581174, 153581250-153581260, 153581369-153581524, 153581538-153581572, 153581672-153581796, 153581825, 153581922-153581932, 153581956, 153581960-153581974, 153581996, 153582015-153582032, 153582048, 153582075, 153582078-153582095, 153582283-153582307, 153582329-153582344, 153582386-153582398, 153582519-153582546, 153582558-153582561, 153582566-153582569, 153582573-153582625, 153582629-153582630, 153582749-153582752, 153582764-153582780, 153582816-153582822, 153582984-153583079, 153583193-153583217, 153583223-153583291, 153583299-153583440, 153585627, 153585630-153585642, 153585802-153585861, 153585883-153585917, 153585925-153585954, 153586567-153586658, 153586668-153586671, 153586678, 153586694-153586722, 153586813-153586852, 153586858-153586885, 153586909, 153586912, 153586917-153586919, 153586925, 153587405-153587406, 153587415, 153587451, 153587456-153587471, 153587512-153587522, 153587614-153587639, 153587659-153587774, 153587852-153587864, 153587883-153587911, 153587936-153588014, 153588100-153588108, 153588120-153588203, 153588220-153588273, 153588362-153588689, 153588704-153588733, 153588743-153588744, 153588750, 153588763-153588923, 153588944-153588955, 153589676-153589827, 153589838-153589863, 153589874-153589880, 153589887-153589916, 153589932-153589938, 153590038-153590042, 153590089-153590138, 153590347-153590379, 153590398-153590399, 153590406-153590454, 153590510-153590516, 153590610-153590634, 153590647-153590700, 153590814, 153590817-153590866, 153590883, 153590899-153590900, 153590930-153590946, 153591031, 153591036-153591073, 153591077, 153591099-153591152, 153592390-153592455, 153592468-153592469, 153592478-153592489, 153592499-153592507, 153592516-153592520, 153592523, 153592627-153592638, 153592641-153592653, 153592657-153592683, 153592687, 153592694-153592695, 153592709, 153592726-153592740, 153592894-153593005, 153593042-153593047, 153593076-153593087, 153593192-153593209, 153593216-153593244, 153593254, 153593276-153593286, 153593301-153593325, 153593504-153593517, 153593530-153593575, 153593606-153593627, 153593717-153593728, 153593745-153593766, 153593774-153593844, 153593853-153593854, 153594392-153594455, 153594464-153594491, 153594497-153594516, 153594562, 153594572-153594579, 153594683-153594693, 153594715-153594734, 153594745-153594751, 153594759, 153594783-153594788, 153594823-153594825, 153594930-153594960, 153594977-153594983, 153595100-153595136, 153595159-153595167, 153595207-153595218, 153595765-153595867, 153595886-153595893, 153595905-153595912, 153596009-153596047, 153596066-153596106, 153596210-153596324, 153596333-153596334, 153596347, 153596353-153596355, 153596365, 153596370-153596393, 153596403-153596427, 153596452-153596458, 153599241-153599313, 153599337-153599372, 153599378-153599417, 153599424-153599428, 153599431-153599469, 153599495-153599613
917EMDX0.4562091503268416765153607863-153607870, 153607879-153607884, 153607887-153607888, 153607894-153607906, 153608050-153608054, 153608067-153608099, 153608107-153608146, 153608315-153608351, 153608594-153608635, 153608668-153608713, 153609119-153609155, 153609262-153609287, 153609313-153609314, 153609333-153609351, 153609379-153609390, 153609401, 153609415, 153609427-153609469, 153609504-153609546
918TAZX0.57541191381496335789153640181-153640289, 153640423-153640486, 153640493-153640551, 153641588-153641589, 153641819-153641841, 153641852-153641853, 153641863-153641904, 153647891, 153647962, 153648048, 153648371-153648372, 153648551-153648574, 153648599-153648603
919GDI1X0.9389880952381821344153665601-153665627, 153666882, 153666890, 153666893-153666899, 153668456-153668486, 153669475-153669481, 153669499, 153669536, 153670003, 153670473-153670476, 153671010
920G6PDX0.581807081807086851638153760224-153760234, 153760262-153760305, 153760403-153760414, 153760451-153760452, 153760456-153760468, 153760495, 153760616-153760619, 153760631, 153760644-153760666, 153760795, 153760798, 153760815, 153760867-153760870, 153760910-153760951, 153760964-153760966, 153761164-153761242, 153761264, 153761272-153761295, 153761318, 153761341-153761343, 153761791-153761802, 153761823-153761837, 153761868-153761884, 153762271-153762274, 153762307-153762314, 153762327-153762333, 153762346-153762375, 153762553-153762559, 153762571-153762597, 153762611-153762627, 153762638, 153762643, 153762666-153762710, 153763389-153763432, 153763456, 153763466-153763499, 153763526-153763535, 153763592-153763600, 153764161-153764203, 153764227-153764249, 153774282, 153775008-153775011, 153775026-153775028, 153775035-153775085
921IKBKGX0.97472677595628371464153770538, 153780276-153780283, 153780315, 153780320, 153780370, 153788730-153788754
922DKC1X0.98899676375405171545153994652, 154001479-154001494
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
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-V730Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ARMS2-A69Shomozygous0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2TGIF1-P83Shifthomozygous0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, 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-G299Rhomozygous0.701Unknown
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
2CFH-V62Ihomozygous0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-A53Vhet unknown0.096Unknown
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
2TNFRSF13B-P251Lhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
2TNFRSF13B-C104Rhet unknown0.004Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5ADD1-G460Whomozygous0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
1.5ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.125FKTN-G125Shet unknown0.037Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1.125FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
1CACNA1S-L1800Shet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTR-D919Ghomozygous0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RSPH4A-T149Shomozygous0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
1RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
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
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
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1RPGRIP1L-R744Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CLCN1-A437Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AGL-K385Nhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-A191Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K11752Ehet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E10146EVLPEEEEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RGPD4-G717Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-L723Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
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-F139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HRNR-HR2748QHhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-Y2746Hhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S803Rhet unknown0.017Unknown
not reviewed
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-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-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G315Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-G167Dhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
1USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-N3199Dhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-T3115Ahet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-L2886Fhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TYK2-E1163GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R64Khet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A107Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A183Dhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CNGB3-K733KQKENEDKhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
1CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DFNB31-N796Khomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DFNB31-V783Ahomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DFNB31-P562Ahomozygous0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DFNB31-A440Thomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RASAL1-T58Mhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1RASAL1-V11Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-D1111Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ERCC2-C259Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75CDKN1A-S31Rhet unknown0.133Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
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
0.75ALG12-H392Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75ALG12-N254Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.625OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625OBSL1-K1584Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625OBSL1-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5SULT1C4-D5Ehomozygous0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-H623Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FUT2-G258Shomozygous0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
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-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TET3-P294Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5SACS-N1489Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5MRPS5-R284Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ADRA2B-G211Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GOLGA3-K1185Rhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5GOLGA3-G70Ehet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETFB-P52Lhet unknown0.061Unknown
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
0.5ZNF530-T64Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.827 (possibly damaging)
0.5ZNF530-H110Qhet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-T169Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5MUC6-IT2026TPhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC6-H1534Lhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-R190Whomozygous0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NT5C1B-R187Qhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5NT5C1B-S176*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R2066Chet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2153Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBI-M71Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-Q233*het unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5DHDH-G282Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADHB-L239Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANGPTL7-Q175Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5RALGAPA2-E189Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5DEFB128-H62Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB128-K27Nhet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGA7-R655Hhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGA7-R279Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL6A3-T3069Ihomozygous0.362Unknown
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-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FARP2-R17Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NINL-R1276Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NINL-WE958DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BPIL1-D359Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PIP4K2C-A300Ghet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CTDSP2-V146Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CTDSP2-K142Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5DLGAP4-R10Hhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM65C-C566Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5DDX54-P822Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5ABCA12-S777Thomozygous0.998Unknown
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
0.5LRP2-N83Shomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NOC3L-A695Thet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOC3L-P444Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5NOC3L-E45Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5DFNB59-R265Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.645 (possibly damaging), Testable gene in GeneTests
0.5HNF1A-G292Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5HNF1A-V567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5HNF1A-L584Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEP1-I2486Mhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihomozygous0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shet unknown0.612Unknown
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
0.5LCT-V219Ihet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-I6534Vhomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R3651Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
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
0.5HPS1-G283Whet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT4-G160GAGGFRAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFRAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEUROD1-P197Hhet unknown0.020Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM3-K215Nhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BARD1-R658Chet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging)
0.5BARD1-R378Shet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-I94Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH7-L3319Phomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-T2114Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5DNAH7-K825Ehet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.208 (possibly damaging)
0.5DNAH7-S632Chet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DNAH7-R545Chet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
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
0.5CARD8-A200Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CARD8-V43Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KCTD19-E675Khet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5LRRC50-Q307Ehet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P452Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB1-K911Rhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-G238Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5WNK1-M1808Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5KRT33B-E85Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5SERPINA1-A308Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-V237Ahomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-A84Thet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-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)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-S425Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5MYO5C-R172Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5SLC28A1-V189Ihomozygous0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-Q237Khomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CAPZA3-R39Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.901 (probably damaging)
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1024-N258Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5KIAA1024-P828Lhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA1024-I832Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CDKN1B-V109Ghomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5CEP152-L914Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.712Unknown
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-T789Ahomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), 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
0.5MYH11-V1296Ahet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALG1-T64Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG1-S267Nhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5UNC45A-L246Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5UNC45A-A256Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF174-R305Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5SLX4-S1271Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.679 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PNPO-R116Qhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5B4GALNT2-R183Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5ZNF559-D18Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
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)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
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
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MS4A5-G51Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MADD-R765Qhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MADD-R766*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LTBP4-V194Ihomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-R635Ghet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LTBP4-T787Ahomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-T820Ahomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-T1140Mhomozygous0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC6A5-G102Shet unknown0.369Unknown
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
0.5IL12RB1-G378Rhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSG2-I293Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TMEM126B-A168Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5AMZ2-N30Dhomozygous0.762Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AMZ2-R313Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5SCN4A-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
0.5TSHR-P52Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSC2-R798Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSC1-M659Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (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
0.5CBX4-E322Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CBX4-H303Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-L2097Phet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PCNT-R3245Shet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
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
0.5ABCA1-E1172Dhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG2-E723Khet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FLG2-C298Shet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLG2-G137Ehet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CUBN-E2968Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-S1935Ghet unknown0.145Unknown
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-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GPX5-L85Phet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
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-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E558Ahet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FLG-G3412Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R3404Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y3105Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G2545Rhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), 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-K2444Ehet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-ES2398QPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), 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-K2192Qhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Q1914Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Q1873Khet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-T1523Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-D1484Ehet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1376Ghet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R789Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5EXOSC3-Y225Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRERF1-D1187Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5TULP1-K261Nhomozygous0.844Unknown
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
0.5TNXB-R3209Ghet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-K3015Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-P2412Lhet unknown0.099Unknown
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
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G45Ahet unknown0.174Unknown
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-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IL6R-D358Ahomozygous0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5ALDH5A1-H180Yhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARHGAP30-R1017Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARHGAP30-L591Vhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A7-I215Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPOX-R304Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5PEAR1-S234Phomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEAR1-S381Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5PEAR1-R885Hhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PEAR1-N903Dhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.5PROP1-A142Thomozygous0.239Unknown
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
0.5COL23A1-R267Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KCNN3-Q75Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KCNN3-Q69Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5UIMC1-Y564Hhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NIPAL4-S453Lhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5RUSC2-T73Ahomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RUSC2-E806Khet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF107-N401Dhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.205 (possibly damaging)
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S242Phet unknown0.007Unknown
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-R336Hhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.214 (possibly damaging), 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
0.5GMEB1-V8Ghet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SBDS-I212Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), 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
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5ABP1-T16Mhet unknown0.346Unknown
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-H645Dhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5GIMAP2-V74Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5SYDE2-Q175Phet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GATAD1-R233Whet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
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
0.5COL11A1-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
0.5DNAH11-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-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
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-A4322Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-A422Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-K345Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-C313Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.087 (benign)
0.5FAM154A-P63Shomozygous0.819Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-K27Ehomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA1586-F75Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
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-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
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)
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5EFHC1-I619Lhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5FBXL4-H35Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-L1235Phet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-H55Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1324-I86Vhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-T623Phet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-L1009Phomozygous0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F1485Chomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C1050Yhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G1009Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C890Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-E869Khet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-Y804Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R385*het unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5VWDE-G340Dhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R39Hhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A1-L160Fhomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A1-M408Vhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A1-M440Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-M1974Thet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RLN2-R134Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (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-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R3533Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhomozygous0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CLCN2-T668Shomozygous0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABHD10-I251Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRAMEF2-L122Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPOX-N272Hhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.5PDE7A-G50Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FRMD7-S281Lhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.265 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.595Unknown
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
0.5EDA2R-T129Ahomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EDA2R-P112Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EDA2R-R57Khomozygous0.558Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-Q954Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OBSCN-A1532Vhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OBSCN-Q1690Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-A3300Thet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.552 (possibly damaging)
0.5OBSCN-R4516Whet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.65 (possibly damaging)
0.5OBSCN-S4642Chomozygous0.747Unknown
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-D4962Ghomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-P6272Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.402 (possibly damaging)
0.5OBSCN-M7775Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZXDC-P562Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging)
0.5ATR-V959Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATR-K764Ehet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.741 (possibly damaging)
0.5ATR-V316Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging)
0.5ATR-M211Thet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KBTBD8-F179Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OPN1LW-I111Vhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S116Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-L153Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-A298Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-Y309Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-P34Shomozygous0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-A660Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-T817Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.5TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-C1842Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MFNG-R302Chet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PPIL2-P335Thet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5KIAA1671-S963Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUMF1-S63Nhomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5ATXN7-V862Mhomozygous0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5RYR2-R1993Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RYR2-Q2958Rhomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CIDEC-E64Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CIDEC-S62Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CIDEC-T49Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5CIDEC-QQLLSEP29RQLLSGAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OR2T3-T202Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5OR2T3-M204Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5OR2T3-A214Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5TSEN2-R41Hhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.079 (benign), Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH14-T43Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-F405Lhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-L828Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-K1010Rhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-R1011Qhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-N1099Yhet unknown0.804Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-M1110Ihomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-Y1392Dhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5DNAH14-T1850Mhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-K1925Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH14-N2435Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-N3203Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH14-D3393Ehet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-K3474Ehet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-V3627Ahet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-R3670Khet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-N3969Khet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-L4096Phomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH14-F4244Chomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH5-I4450Vhet unknown0.528Unknown
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-D3154Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
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
0.5IL7R-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
0.5LIFR-V785Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.033 (benign), Testable gene in GeneTests
0.5LIFR-H116Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (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
0.5CFHR5-R356Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.701 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5WDR17-A814Thomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR17-R1157Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5WDR17-A1295Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPR-T1707Ahet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARRDC1-N287Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPATA6-R333Whet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.385 (possibly damaging)
0.5SPATA6-E228Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5ARSB-V358Mhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCG2-Q141Khet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
0.5ITIH5L-W1041Shet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ENAM-S1107Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-L2647Ihomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.317Unknown
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
0.5PDGFRA-G79Dhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-Q509Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POLN-P315Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.688 (possibly damaging)
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKD2-R28Phet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ANK2-S3300Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC38A5-M451Thet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MANBA-V253Ihomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL4A3-P116Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375EYS-R2326Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-S1915Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-L1873Vhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-S1517Ghet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-R1515Whet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-I1451Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-I1361Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-Q1325Ehet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-I1263Vhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-G631Shet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.375MOGS-P27Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLEKHM2-D422Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLEKHM2-E431*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25EIF4B-Q330Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EIF4B-E611Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-R44Whet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-L643Fhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSPG2-H3256Yhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-P1019Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NRAP-R1566Chet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-L1531Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.25NRAP-I1183Vhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-R884Chet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.25NRAP-N519Ihet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.974 (probably damaging)
0.25NRAP-S490Lhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.25NRAP-Q360Rhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A282Thet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-Y249Chet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25NRAP-V208Ahomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PPRC1-P941Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PPRC1-I1574Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-V257Mhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25DLG5-A1482Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DLG5-Q140Rhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG6-S306Fhet unknown0.738Unknown
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
0.25SLC6A17-L25Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC6A17-A57Thomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC25A45-R268Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC25A45-M224Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACY3-M25Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACY3-L11Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACY3-R8Qhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.917 (probably damaging)
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OVGP1-E676Qhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OVGP1-S536Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OVGP1-T533TTGQKTLThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OVGP1-E521Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OVGP1-T518Shet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25OVGP1-Y514Hhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OVGP1-S511Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OVGP1-M477Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP10-7-T320Ahomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP10-7-A330Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRTAP10-7-TS332VChet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRTAP10-7-S334Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRTAP10-7-QA336Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25DMGDH-S279Phet unknown0.551Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DMGDH-G5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK126213-A234Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK126213-M228Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK126213-R224Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAG6-S619PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BAG6-T391Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCARF2-P823Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCARF2-V429Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), 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
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CYP21A2-R103Khet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-R356Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-L329Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ADAM3A-R215Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NRG1-R38Qhomozygous0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.989 (probably damaging)
0.25NRG1-E309Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T22Ihet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XIAP-Q423Phet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25HTR2C-C23Shet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25SLC16A2-S107Phet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL1-I396Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ADAMTSL1-L823Ihet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDK5RAP2-E289Qhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25PODXL-G112Shet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PODXL-N72Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OGFRL1-G38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OGFRL1-S47Phet unknown0.101Unknown
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
0.25PRPH2-R310Khet unknown0.931Unknown
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
0.25WDR27-G742Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25WDR27-L133Phet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP3A43-P340Ahet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCB1-S400Nhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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-P2045Lhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1042Vhomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-A863Vhomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-L410Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-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
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), 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
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SAMD10-A73Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SAMD10-T64*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SAMD10-H44Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI2-A558Thet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGGT2-M994Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.903 (probably damaging)
0.25UGGT2-R941*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25UGGT2-A821Thet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.25UGGT2-S328Ahet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGGT2-A323Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NUFIP1-M69Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NUFIP1-S36Rhomozygous0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPAP1-R582Ghet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.25RPAP1-E506Khet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.906 (probably damaging)
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNRF4-A157Shet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.25ZNRF4-V159Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP8-M1Thet unknown0.031Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A10-A206Thet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF831-T52Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF831-S1513Phet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIRPA-L44Shet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIRPA-T50Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIRPA-TLR52ILHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIRPA-A57Vhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIRPA-DL95EShet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIRPA-N100Ehet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIRPA-R107Shet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIRPA-G109Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIRPA-K126Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SIRPA-D131Delhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIRPA-V132Thet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNPH-M117Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SNPH-DC269GGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KIAA1486-K316Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1486-T586Phomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF224-M118Vhet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRX-G1132Rhet unknown0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EMR2-L565Fhomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EMR2-L560Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25EMILIN1-Q149Rhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EMILIN1-LAEL362ASEPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EMILIN1-L500Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0RYR1-F2505Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, 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
0GLRB-Q372*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0FLNC-R441Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HAMP-G71Dhet unknown0.002Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.734 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0SIX5-G222Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,686,795,907 bases (94.9% of callable positions, 88.9% of total positions)

Coding region coverage: 29,786,193 bases (89.7% of all genes, 90.9% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in