huB1488D - GET-Evidence variant report

Variant report for huB1488D

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1MTR-P749SHighUncertainUncertain pathogenic

Unknown, Heterozygous
0.00102249Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause methylcobalamin deficiency.1
2C3-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
3TGM1-E520GModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00641502This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance.1
4PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
5FMO3-R492WModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00046477Reported by Akerman et al. 1999 to cause Trimethylaminuria in a recessive manner. The authors report seeing it once, compound heterozygous in a patient.1
6ACY1-R353CModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0022309Reported to cause Aminoacylase 1 deficiency in a recessive manner. This metabolic defect was first described by Van Coster, et al. 2005 and Sass et al. 2006. This variant was recognized as relatively common (ExAC reports 0.37% allele frequency in European data), but was seen homozygous in an affected individual, and compound heterozygous in another patient by Sass et al. 2007.1
7NOD2-R702WLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0334821NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups.1
8AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
9MTRR-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
10WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
11PLCD1-A574TLowUncertainUncertain pathogenic

Dominant, Heterozygous
Recorded as Ala553Thr by ClinVar, this variant was reported by Kiuru et al. 2011 to cause hereditary chalky, white "porcelian nails" in a dominant fashion. The authors reported finding it in an extended Pakistani family, where a DNA segment containing this variant was found to be very strongly linked to the condition. The variant wasn't found in 130 healthy Pakistani individuals used as controls. According to ExAC data this variant is fairly rare, with an allele frequency of 0.016% in European data (1 in 2750 people are carriers), and 0.1% in Finns (1 in 500 are carriers).1
12RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
13ACAD8-S171CLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.018312This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.1
14TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
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
15SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
16BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
17ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
18H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
19ITPA-P32TLowWell-establishedWell-established pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0609779This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.1
20rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
21NPC1-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
22IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
23NEFL-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
24CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
25COL9A2-T246MLowLikelyLikely benign

Unknown, Heterozygous
0.0252835Probably benign.1
26MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
27KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.1
28LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Homozygous
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
29ALOX12B-P127SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.0167317This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.1
30RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
31CYP27A1-P384LLowUncertainUncertain benign

Unknown, Heterozygous
0.0177542Probably not pathogenic. Although predicted to be disruptive and treated by some as pathogenic, reports of this variant in cases were all linked with an upstream frameshift variant -- this supports the variant as a nonpathogenic ancestral polymorphism.1
32PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
33DSPP-R68WLowUncertainUncertain benign

Unknown, Heterozygous
0.143045Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.1
34APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
35AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
36PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
37SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
38TXNDC3-I338TLowUncertainUncertain benign

Unknown, Heterozygous
0.0377604Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).1
39TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
40TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
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
41TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30347995 / 33212919 = 91.37%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.07315086347344456896138955553-955753, 957581-957796, 957804-957842, 970657-970704, 976045-976260, 976553-976777, 976858-977065, 977078-977082, 977336-977348, 977352-977356, 977374-977542, 978619-978642, 978656-978837, 978918-979112, 979203-979403, 979489-979572, 979584, 979609-979637, 979714-979756, 979779-979793, 979810-979819, 980549-980657, 980744-980846, 980852-980903, 981113-981256, 981344-981358, 981369-981468, 981549, 981552-981581, 981597-981645, 981777-982115, 982200-982328, 982707-982722, 982741-982781, 982791-982834, 982953-983062, 983156-983275, 983392-983745, 984247-984439, 984616-984831, 984946-984994, 985000-985175, 985283-985385, 985394-985417, 985613-985709, 985807-985812, 985820-985936, 985944-985956, 985959-985962, 986106-986120, 986136-986217, 986633-986749, 986833-987025, 987108-987138, 987151-987195, 989145-989149, 989153, 989162, 989202-989264, 989275-989290, 989306-989348, 989828-989838, 989892-989914, 989918-989919, 990204-990361
2GABRD10.20088300220751108613591950863-1950930, 1956381-1956382, 1956430-1956471, 1956792-1956840, 1956957-1956999, 1957052-1957077, 1957087-1957177, 1959016-1959039, 1959047-1959058, 1959594-1959731, 1960550-1960576, 1960583-1960597, 1960617-1960705, 1960990-1961093, 1961116, 1961119-1961159, 1961167-1961200, 1961422-1961563, 1961573, 1961585-1961721
3PEX1010.256880733944957299812337242-2337273, 2337923-2338010, 2338018-2338058, 2338174-2338188, 2338200-2338267, 2338291-2338329, 2339899-2339903, 2339937, 2339941, 2339949-2340065, 2340080-2340128, 2340144-2340201, 2340204-2340232, 2340257-2340297, 2341810-2341811, 2341825, 2341861-2341890, 2343830-2343941
4NPHP410.8612473721093259442815923960-5923989, 5924451-5924455, 5924458, 5924480-5924504, 5924545-5924548, 5925191-5925231, 5925268, 5925295-5925326, 5927095-5927097, 5927123, 5935040, 5935053-5935056, 5935078-5935106, 5935111-5935127, 5947384-5947392, 5947452-5947454, 5947460-5947500, 5947507, 5947518-5947526, 5950947-5950950, 6012882-6012883, 6027359-6027374, 6029147-6029157, 6029160, 6029241-6029262, 6029271-6029319, 6038330-6038473, 6046215-6046288, 6046305, 6046315, 6046318-6046320, 6046323, 6046342-6046349
5ESPN10.6526315789473789125656485016-6485309, 6488286-6488298, 6488314-6488346, 6488372-6488401, 6488449-6488479, 6500342-6500362, 6500382-6500396, 6500415-6500474, 6500480-6500500, 6500686-6500802, 6500825-6500868, 6501018-6501028, 6501082, 6505724-6505730, 6505748, 6505751, 6505759-6505763, 6505766-6505768, 6505813-6505863, 6505891, 6505895-6505897, 6505900-6505903, 6508792, 6508795, 6508804-6508835, 6508872, 6508877-6508882, 6508887, 6508892-6508899, 6508985-6508986, 6509065-6509071, 6509110, 6509115-6509118, 6509121-6509124, 6512096-6512151
6PLEKHG510.9253684540608323831896529103, 6529183-6529188, 6530351-6530355, 6530578, 6530581, 6530811-6530821, 6530831-6530873, 6530941, 6531114, 6531120-6531130, 6531139-6531148, 6531592-6531601, 6532614-6532619, 6532650-6532655, 6534517-6534553, 6534562-6534564, 6534570-6534572, 6534626-6534628, 6534638-6534639, 6535523, 6535527, 6535557, 6556553-6556615, 6556623-6556629, 6557380-6557383
7PEX1410.81393298059965211113410535053-10535059, 10684422-10684459, 10684466-10684484, 10687329-10687350, 10689642-10689648, 10689661, 10689684-10689714, 10689775-10689824, 10689967-10689973, 10689995-10690023
8TARDBP10.9670682730923741124511082322-11082362
9MASP210.64919941775837723206111087690-11087691, 11090897, 11094891, 11097770-11097798, 11097820-11097868, 11102956-11103079, 11103396-11103400, 11103421-11103527, 11103541-11103592, 11105465-11105570, 11105578-11105596, 11106652-11106694, 11106705, 11106741-11106790, 11106948-11106969, 11106978-11107010, 11107019-11107033, 11107066-11107071, 11107075, 11107087-11107093, 11107096, 11107133-11107176, 11107260-11107264
10MTHFR10.85844748858447279197111851346, 11851360, 11853973-11854017, 11854091-11854093, 11854100-11854101, 11854105, 11854457, 11854460, 11854465-11854474, 11854578-11854595, 11854808-11854829, 11854888-11854920, 11855196-11855230, 11855239-11855287, 11855342, 11855386-11855393, 11861296-11861297, 11861301-11861302, 11861327, 11861425, 11862971, 11863084-11863123, 11863142
11PLOD110.75641025641026532218411994837-11994908, 12008033-12008052, 12009854, 12010502, 12010506, 12010523, 12014887-12014902, 12014916-12014918, 12014931-12014940, 12017010-12017012, 12017060, 12017979-12018000, 12018606, 12018658-12018685, 12020779-12020789, 12023641-12023649, 12023673-12023686, 12024235, 12024279-12024323, 12024720-12024735, 12024746, 12024750, 12024781-12024789, 12024831-12024842, 12025540-12025557, 12025590-12025609, 12026314-12026347, 12027070-12027096, 12027117-12027148, 12030727-12030739, 12030751-12030781, 12030804-12030837, 12030861-12030873, 12033045-12033054, 12034794
12MFN210.9890061565523325227412052732-12052746, 12064977-12064978, 12066741-12066748
13CLCNKA10.69476744186047630206416349174, 16349178-16349181, 16349197, 16353058, 16353074-16353106, 16353192-16353261, 16353808, 16353906, 16353911, 16354355-16354398, 16355260-16355265, 16355318-16355319, 16355330-16355337, 16355633-16355661, 16355715-16355731, 16355735-16355737, 16356278-16356284, 16356465-16356471, 16356476-16356481, 16356485, 16356493-16356498, 16356501, 16356528, 16356531-16356570, 16356959, 16356979-16357045, 16357051-16357076, 16357091-16357169, 16358207, 16358295-16358331, 16358338, 16358698-16358700, 16358719-16358747, 16358753-16358786, 16358938-16358958, 16358962-16358964, 16358968, 16359013-16359016, 16359667, 16360106-16360114, 16360132-16360153
14CLCNKB10.76501937984496485206416371052, 16371067-16371070, 16372059-16372101, 16373030-16373050, 16373124-16373126, 16373141, 16374515-16374516, 16374849-16374890, 16375063-16375064, 16377027, 16377370-16377373, 16377534-16377543, 16377985, 16378040, 16378213, 16378222-16378246, 16378267-16378298, 16378693-16378756, 16378767-16378798, 16378809-16378863, 16378879, 16380196, 16380208-16380267, 16381933-16381935, 16381993-16382018, 16382170-16382182, 16382951-16382962, 16382993-16382999, 16383364-16383371, 16383403-16383411
15ATP13A210.712672876093711018354317312716-17312800, 17312802-17312812, 17312839-17312853, 17312959-17312964, 17313010, 17313017-17313018, 17313021-17313024, 17313053-17313061, 17313073, 17313078, 17313085, 17313104, 17313108-17313127, 17313326-17313337, 17313343, 17313345-17313363, 17313380-17313421, 17313432, 17313443, 17313576, 17313595-17313649, 17313651, 17313654, 17313660, 17313674-17313675, 17313679, 17313688, 17313733-17313748, 17313763-17313764, 17314824-17314826, 17314865-17314903, 17314916, 17314919, 17314934, 17314942, 17314954-17314969, 17316226-17316232, 17316395-17316441, 17316709, 17318264, 17318504-17318505, 17318527-17318534, 17318584-17318601, 17318620, 17318749-17318765, 17318814-17318815, 17318821, 17318993-17318994, 17319006, 17319009, 17319015-17319016, 17320169, 17320182, 17320274-17320275, 17320278, 17320281, 17320286, 17320307, 17322481-17322504, 17322518-17322519, 17322523, 17322548-17322601, 17322619-17322633, 17322759-17322765, 17322788-17322795, 17322904-17322935, 17322949, 17322952, 17322955-17322957, 17322983-17322991, 17323515-17323536, 17323549-17323556, 17323560-17323565, 17323569, 17323583-17323623, 17323632-17323641, 17323647-17323670, 17326508-17326515, 17326531-17326637, 17326741-17326742, 17326754-17326771, 17326785-17326789, 17326792-17326793, 17326904, 17326985-17327005, 17328529-17328545, 17328809-17328846, 17331230-17331244, 17331559, 17331930, 17332011, 17332219-17332222, 17332255-17332258, 17338225-17338233
16SDHB10.9988137603796184317371286
17ALDH4A110.9533096926713979169219201956-19201957, 19201960-19201966, 19203956-19203962, 19204091-19204099, 19208371, 19209773-19209776, 19209819-19209838, 19215863-19215870, 19228970-19228986, 19228995-19228998
18PINK110.9868270332187923174620960098-20960103, 20960155, 20960255-20960257, 20960370-20960382
19ALPL10.9917460317460313157521889652, 21889660-21889663, 21889666, 21889769, 21889776, 21890590, 21890610, 21900210, 21900279, 21903905
20HSPG210.9090012143290811991317622149809-22149820, 22149876-22149958, 22149980-22149981, 22150179-22150206, 22150641-22150643, 22150646, 22150813-22150858, 22151052-22151077, 22151197-22151206, 22151229, 22154537-22154542, 22154629-22154645, 22154752-22154765, 22154815-22154835, 22154857, 22154909-22154919, 22155331, 22155337, 22155347, 22155354, 22155417-22155418, 22155440-22155470, 22155487, 22155490, 22155493-22155507, 22155542, 22155876-22155887, 22155944, 22155969-22156003, 22156015-22156017, 22156023-22156024, 22156083-22156097, 22156576-22156584, 22157524, 22157528, 22157775, 22157786, 22157956-22157960, 22159036, 22163425-22163426, 22163436, 22165407-22165419, 22165441, 22165465, 22165898-22165915, 22165931, 22167633-22167634, 22167639-22167642, 22167649-22167658, 22167661, 22168039, 22168043, 22168072-22168114, 22168133-22168139, 22168590, 22168734, 22168801-22168813, 22169263-22169265, 22169914-22169922, 22172615-22172617, 22172621-22172634, 22172637, 22172732-22172733, 22172739, 22172941-22172953, 22173898, 22173919, 22173922, 22173973-22173985, 22174229-22174230, 22174237, 22174293-22174304, 22174451, 22174496-22174528, 22174534-22174539, 22175157, 22175161, 22175397-22175415, 22175450-22175470, 22175493-22175513, 22176651, 22176866-22176898, 22176911-22176917, 22176947-22176991, 22178099, 22178106, 22178155, 22178160, 22178167, 22178184, 22178332, 22178336, 22178359-22178361, 22178366-22178368, 22178377, 22178591, 22178595-22178617, 22178648, 22179307-22179317, 22180821, 22181122-22181130, 22181417-22181434, 22182031-22182052, 22182061, 22183683, 22183686, 22186064, 22186138, 22186332, 22186341-22186342, 22186352, 22186374, 22186384, 22186451, 22186466-22186467, 22186490, 22186494, 22186670-22186684, 22186693, 22186696, 22186711-22186725, 22186728, 22188250-22188259, 22188264, 22188270, 22191454, 22191785, 22191798-22191800, 22191823-22191832, 22198693-22198713, 22198795, 22199123, 22199131, 22199156-22199161, 22199245, 22199251, 22199498-22199527, 22200432-22200438, 22200907, 22200924, 22201146, 22202516, 22206868-22206869, 22207002-22207003, 22207036-22207039, 22207047-22207048, 22207165, 22207866, 22211088-22211102, 22211147, 22211157, 22211160, 22211263-22211279, 22211291, 22211387-22211394, 22211555-22211566, 22211641, 22211847, 22211858-22211860, 22213932, 22216926, 22263648-22263710
21WNT410.89488636363636111105622446733-22446735, 22446738, 22456180-22456190, 22456206-22456207, 22456221-22456227, 22456283, 22456287, 22456291, 22456298-22456304, 22469339-22469415
22HMGCL10.975460122699392497824134754, 24134759-24134770, 24134774, 24134777, 24151897-24151905
23FUCA110.79871520342612282140124180876-24180877, 24189761, 24192059, 24194388, 24194396-24194454, 24194464-24194497, 24194500, 24194516, 24194522-24194526, 24194529, 24194548-24194576, 24194583-24194644, 24194669-24194691, 24194697-24194727, 24194740-24194745, 24194752-24194776
24LDLRAP110.97303128371092592725870190-25870191, 25870202-25870208, 25870230-25870245
25SEPN110.86750599520384221166826126722-26126904, 26135536, 26135559-26135569, 26135572, 26135610-26135614, 26136179-26136192, 26136264-26136267, 26136295-26136296
26ZMPSTE2410.996498599439785142840756543, 40756551-40756554
27KCNQ410.77586206896552468208841249766-41249960, 41249971, 41249975-41249977, 41249984-41249998, 41250018-41250033, 41284187-41284204, 41284228-41284324, 41296759-41296792, 41296858-41296862, 41296967-41296976, 41298731-41298733, 41298771-41298775, 41300717-41300738, 41300742, 41300752, 41303993-41303997, 41304008-41304016, 41304029, 41304035, 41304117-41304118, 41304121-41304122, 41304130, 41304137-41304154, 41304193-41304195
28CLDN1910.99407407407407467543201671, 43201675-43201677
29LEPRE110.91858887381275180221143212390, 43212431, 43212475-43212485, 43232207-43232256, 43232308-43232350, 43232400-43232405, 43232439-43232474, 43232484-43232499, 43232504, 43232596-43232604, 43232637-43232642
30SLC2A110.9891818796484116147943408951-43408960, 43424317-43424322
31MPL10.99790356394134190843814993-43814995, 43815000
32UROD10.99637681159424110445479449-45479450, 45479453-45479454
33POMGNT110.998487140695923198346662494, 46663454-46663455
34ORC110.997679814385156258652839036-52839040, 52840557
35DHCR2410.9677627337201850155155341720, 55352593-55352612, 55352668-55352670, 55352742-55352766, 55352789
36BSND10.978193146417452196355474203-55474223
37PCSK910.94853294853295107207955505532-55505533, 55505553-55505555, 55505602, 55521666-55521696, 55521710, 55521717-55521736, 55521746, 55521834-55521860, 55524225-55524241, 55524267, 55524277-55524279
38AGL10.999782561426414599100361911
39COL11A110.99725123694338155457103364225, 103364242, 103364245-103364250, 103364261-103364265, 103364271, 103364281
40GSTM110.35007610350076427657110230496-110230531, 110230792-110230798, 110230819-110230867, 110231297-110231326, 110231691, 110231703-110231743, 110231847, 110231855-110231947, 110232893-110232988, 110233076-110233147, 110233179
41NOTCH210.98718985976268957416120548022-120548058, 120548091-120548097, 120572529-120572550, 120572569-120572575, 120572609-120572610, 120611964, 120611991-120612009
42PRPF310.999025341130622052150310719, 150317010
43FLG10.9322993599212282512186152276365-152276389, 152276459, 152276583, 152276598, 152276616, 152276626-152276628, 152276671, 152276718, 152276726, 152276772, 152276845-152276892, 152277055, 152277081-152277101, 152277134-152277174, 152277255-152277257, 152277345, 152277393-152277407, 152277426-152277473, 152277567-152277573, 152277713-152277723, 152277966, 152277978, 152278083-152278096, 152278396-152278437, 152278665-152278692, 152278876, 152278901, 152279055-152279068, 152279214, 152279357-152279384, 152279838-152279844, 152280021-152280035, 152280154, 152280471, 152280643-152280649, 152280733-152280762, 152281004-152281042, 152281225-152281231, 152281586-152281592, 152281632-152281649, 152281687-152281710, 152281746-152281753, 152282311, 152282315-152282316, 152282415-152282421, 152283092, 152283410, 152283615-152283633, 152283902-152283908, 152283972-152283979, 152284035-152284064, 152284149-152284175, 152284188-152284217, 152284236, 152284243-152284246, 152284274-152284322, 152284374-152284414, 152284546-152284552, 152284879, 152284885, 152284893, 152284997-152285023, 152285134-152285140, 152285189-152285198, 152285868-152285880, 152287023-152287025
44CHRNB210.97614314115308361509154543902, 154544254-154544272, 154544376-154544377, 154544383-154544396
45GBA10.96157059314954461197155184218-155184227, 155184432, 155186188-155186222
46GBA10.98324022346369271611155204848, 155205037-155205062
47PKLR10.99420289855072101725155265029, 155269976, 155269990-155269996, 155271129
48LMNA10.9805996472663111567156104994, 156105001-156105004, 156106167-156106172
49LMNA10.98496240601504301995156084742-156084743, 156104741, 156104994, 156105001-156105004, 156106167-156106172, 156108282-156108297
50SEMA4A10.99168853893263192286156131137-156131155
51NTRK110.952321204516941142391156830727-156830751, 156830756-156830771, 156830788-156830810, 156830856-156830862, 156843443-156843452, 156843491, 156843539-156843543, 156843702, 156846207, 156851279-156851280, 156851335-156851357
52F510.9988014981273486675169510337-169510343, 169510475
53CFHR110.971802618328328993196797204, 196797253, 196797292, 196801002-196801026
54CACNA1S10.99163998577019475622201081381-201081400, 201081435-201081461
55PKP110.98486932599725332181201282428-201282445, 201282458-201282459, 201294142-201294144, 201294200-201294203, 201294213-201294218
56LAMB310.9977266268826483519209790912-209790919
57PSEN210.997772828507831347227071510-227071512
58ADCK310.887860082304532181944227149096-227149118, 227152705-227152721, 227152783-227152817, 227152903-227152904, 227152908-227152928, 227152933, 227153010-227153011, 227153034, 227153038-227153043, 227153085-227153111, 227153392-227153420, 227169792-227169814, 227169840-227169850, 227170704, 227171276-227171279, 227171803-227171814, 227173024-227173026
59GJC210.1424242424242411321320228345460-228345471, 228345497-228345527, 228345563-228345582, 228345596-228345804, 228345825-228345937, 228345951-228346334, 228346352-228346612, 228346620-228346642, 228346670-228346697, 228346704-228346754
60ACTA110.908289241622571041134229567298-229567301, 229567468-229567475, 229567638-229567646, 229567789-229567790, 229567796, 229567844-229567854, 229567861-229567865, 229567881-229567895, 229567926-229567932, 229568119-229568135, 229568155, 229568159-229568165, 229568318-229568324, 229568373-229568382
61ACTN210.97206703910615752685236849974-236849987, 236850000-236850033, 236850093-236850098, 236881225, 236907945-236907954, 236907965, 236908053-236908060, 236908067
62MTR10.9997367035281713798237013701
63RYR210.999194847020931214904237729967-237729978
64NLRP310.9996785599485713111247582254
65NET1100.99664991624791617915454751-5454756
66GATA3100.979026217228462813358100717-8100744
67PHYH100.980334316617520101713342013-13342032
68DCLRE1C100.9894179894179922207914981847-14981868
69PTF1A100.4630192502532953098723481460, 23481475-23481488, 23481497, 23481514-23481551, 23481554, 23481563-23481608, 23481633-23481636, 23481643, 23481657-23481999, 23482014-23482022, 23482040, 23482050-23482062, 23482105-23482148, 23482159, 23482161-23482171, 23482197, 23482200
70PDSS1100.9727564102564134124826986668-26986669, 26986731-26986762
71MASTL100.9874857792946533263727447605-27447611, 27448623-27448627, 27454461-27454468, 27459056-27459057, 27459254-27459258, 27469974-27469979
72RET100.87952167414051403334543572707-43572779, 43595927, 43596039-43596068, 43597931, 43597996, 43600404, 43600408, 43600420, 43600453-43600497, 43600517, 43600571-43600612, 43600633-43600634, 43600640, 43601825, 43601848, 43601926, 43601938, 43601959-43601968, 43601975, 43602005, 43604485-43604486, 43604620, 43606673, 43606740, 43606747, 43606852-43606872, 43606909-43606913, 43609944, 43610126-43610168, 43612168, 43613855-43613865, 43614983, 43614998-43615001, 43615017, 43615024-43615026, 43615044-43615092, 43615112, 43617441-43617446, 43619191-43619224
73CHAT100.9910992434356920224750822270-50822278, 50822361-50822364, 50822374-50822379, 50822386
74KIAA1279100.99464094319410186670748838-70748839, 70760261-70760268
75NODAL100.993295019157097104472201332-72201337, 72201341
76PRF1100.999400479616311166872358425
77PCBD1100.99047619047619331572648288-72648290
78SLC29A3100.995098039215697142873082613-73082615, 73082805, 73122162-73122164
79CDH23100.943615751789985671005673437325, 73437409-73437432, 73439203-73439234, 73442239-73442251, 73442275-73442277, 73447464-73447476, 73453991-73453992, 73455206, 73455265-73455268, 73455272-73455273, 73461828-73461883, 73461913-73461914, 73461918-73461919, 73461933-73461936, 73461949-73461968, 73462306-73462309, 73462327-73462360, 73462398-73462417, 73464668-73464678, 73464747-73464791, 73464798-73464837, 73464857-73464887, 73466667-73466668, 73466720, 73468882-73468886, 73468964-73468966, 73472425-73472451, 73472502-73472506, 73472513-73472522, 73472551, 73490226-73490238, 73490270-73490306, 73490320-73490360, 73491838, 73492114-73492116, 73494068, 73498306-73498315, 73498358, 73498388-73498389, 73499461, 73537495-73537500, 73537511, 73550075-73550077, 73550152-73550161, 73550904-73550909, 73550953-73550955, 73573020, 73573024-73573025, 73574855-73574861
80PSAP100.994285714285719157573579550-73579558
81LDB3100.95421245421245100218488441320, 88441323, 88466304, 88466338, 88466389-88466391, 88466463, 88469798, 88476138-88476209, 88476271-88476284, 88476325-88476326, 88476330, 88476334-88476335
82GLUD1100.9010137149672166167788854082-88854086, 88854145-88854167, 88854207, 88854273-88854275, 88854356-88854395, 88854403-88854443, 88854453, 88854460-88854511
83PLCE1100.9978289188015615690996076361-96076375
84HPS1100.951566951566951022106100177344-100177382, 100177388-100177432, 100177478-100177480, 100177967-100177974, 100185361, 100185417-100185418, 100189358-100189360, 100189603
85PAX2100.9946112394149371299102568917-102568923
86HPS6100.95532646048111042328103825281-103825286, 103825378-103825381, 103825414-103825421, 103825448-103825452, 103825455-103825461, 103825475-103825496, 103825695-103825728, 103825747, 103825767-103825775, 103825807-103825813, 103826253
87SUFU100.97938144329897301455104263920, 104263951, 104263957-104263966, 104263983-104263984, 104263987, 104263990-104263995, 104264053, 104357016-104357023
88CYP17A1100.99148657498363131527104592347-104592355, 104592803, 104593814, 104595067-104595068
89COL17A1100.99554962171785204494105793753, 105816796, 105816803-105816817, 105816908, 105816916-105816917
90HABP2100.99405822935235101683115341846, 115341852-115341854, 115341859-115341862, 115341865-115341866
91EMX2100.990777338603437759119302822-119302828
92BAG3100.98668981481481231728121411339-121411357, 121411364-121411367
93HTRA1100.741510741510743731443124221169-124221232, 124221242-124221293, 124221303-124221422, 124221456-124221507, 124221530-124221614
94UROS100.991228070175447798127477437-127477443
95HRAS110.44561403508772316570532636-532642, 532651-532755, 533479-533512, 533517, 533563-533564, 533567-533569, 533771-533789, 533796, 533808-533834, 533841-533859, 533909-533942, 534230-534261, 534291-534322
96TALDO1110.755424063116372481014747482-747493, 747519, 747523-747525, 747531, 747534-747538, 747552, 747562-747571, 763344-763402, 763414-763443, 763446-763453, 763462, 763476-763500, 763829-763830, 763889, 763895-763905, 764303-764351, 764392-764420
97SLC25A22110.11522633744856860972791917-792002, 792011-792034, 792057-792068, 792142-792217, 792311-792360, 792381-792458, 792553-792727, 792870-792984, 793529-793572, 793595, 793609-793611, 794458-794513, 794776-794876, 794883-794901, 794987-795006
98PNPLA2110.426402640264038691515819719-819785, 819792-819905, 821670-821694, 821711-821755, 821804-821817, 821830-821835, 822501, 822504, 822508, 822524, 822553, 823527-823558, 823573-823587, 823696, 823728-823768, 823784, 823809, 823825-823855, 823998-824001, 824004, 824022-824053, 824068, 824083-824130, 824319-824436, 824523, 824533, 824552-824560, 824569-824656, 824665-824702, 824714-824751, 824771-824862
99CTSD110.3414043583535181612391774733-1774794, 1774822, 1774833-1774900, 1775033-1775035, 1775053, 1775056-1775087, 1775112-1775131, 1775234, 1775240-1775256, 1775264-1775353, 1775359-1775368, 1776136-1776151, 1778568-1778682, 1778693, 1778713-1778745, 1778754-1778786, 1780199-1780232, 1780252-1780296, 1780746-1780843, 1780858-1780865, 1782539-1782592, 1782612, 1782688-1782692, 1785022-1785089
100TNNI2110.422586520947183175491861465-1861468, 1861633-1861636, 1861648-1861674, 1861758-1861785, 1861801-1861833, 1861846-1861886, 1862049-1862092, 1862261-1862275, 1862303-1862321, 1862335-1862401, 1862429-1862437, 1862701-1862707, 1862763-1862781
101TNNT3110.119691119691126847771944112, 1944118-1944121, 1944289, 1944785-1944797, 1946329-1946346, 1947925-1947939, 1950350-1950351, 1950359-1950373, 1951040-1951058, 1953699-1953744, 1954951-1955067, 1955161-1955238, 1955562-1955608, 1955622, 1955631-1955675, 1955776-1955777, 1955783-1955885, 1956059-1956081, 1956098-1956135, 1958193-1958233, 1959668-1959722
102H19110.5284780578898250510712017309-2017344, 2017393, 2017409-2017421, 2017521, 2017525, 2017542-2017549, 2017589, 2017605, 2017613-2017647, 2017748-2017850, 2017864-2017877, 2017895-2017908, 2017911, 2017961-2018018, 2018053-2018094, 2018110-2018112, 2018117-2018182, 2018210-2018258, 2018296-2018312, 2018345-2018384, 2018447
103IGF2110.0534458509142056737112154217-2154453, 2154747-2154895, 2156597-2156718, 2156746-2156759, 2161365-2161515
104TH110.11936507936508138715752185463-2185556, 2185567-2185573, 2185586-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187244, 2187250-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189339, 2189353-2189409, 2189721-2189895, 2190880-2190893, 2190910, 2190913, 2190917-2191035, 2191079-2191080, 2191084-2191086, 2191101, 2191920-2192000, 2192945, 2192952, 2192955-2192964, 2192990, 2192996-2193005
105KCNQ1110.7858197932053243520312466329-2466653, 2466674-2466699, 2466705, 2591858-2591879, 2592609, 2593243-2593245, 2593256-2593282, 2593299, 2593330-2593334, 2594155, 2604665-2604667, 2604714, 2790131-2790146, 2869132-2869134
106CDKN1C110.0578338590956898969512905246-2905292, 2905316-2905364, 2905900-2905911, 2905923-2906536, 2906546-2906719
107SMPD1110.993670886075951218966411931-6411942
108SBF2110.99981981981982155509812122
109ABCC8110.9841972187104975474617414674, 17498176-17498193, 17498243, 17498269-17498323
110USH1C110.999629629629631270017522688
111ANO5110.999270605397522274222277038-22277039
112WT1110.91827541827542127155432449509-32449510, 32456389-32456395, 32456445, 32456456-32456457, 32456467-32456483, 32456562-32456568, 32456583-32456605, 32456630-32456636, 32456719-32456750, 32456785-32456813
113ALX4110.9886731391585814123644286464-44286467, 44286717-44286725, 44286733
114SLC35C1110.86363636363636144105645827407-45827439, 45827584-45827603, 45827637-45827654, 45827731, 45827827-45827853, 45832444, 45832462, 45832521, 45832524, 45832701-45832741
115PEX16110.71277617675312299104145931662-45931668, 45931676-45931725, 45932476-45932483, 45935384, 45935397, 45935407-45935439, 45935459-45935471, 45935746-45935754, 45935882-45935884, 45935907, 45935912, 45935919, 45935947-45935989, 45936181, 45936184, 45937361-45937383, 45939013-45939044, 45939251-45939288, 45939294-45939299, 45939304, 45939312-45939322, 45939336-45939344, 45939350-45939352, 45939355-45939356, 45939362
116F2110.94328517924024106186946741272, 46741277, 46741284-46741291, 46741314, 46741353-46741360, 46744730-46744756, 46744944, 46745000-46745029, 46747409-46747410, 46747616, 46747630-46747635, 46749597-46749603, 46749701-46749713
117MADD110.999190938511334494447350645-47350648
118MYBPC3110.92183006535948299382547353638-47353684, 47354131, 47354139-47354142, 47355112-47355117, 47355143-47355146, 47355194-47355195, 47356606-47356615, 47357521, 47360223-47360230, 47364156-47364159, 47364667-47364681, 47367814, 47368181-47368195, 47368990-47368994, 47369408, 47369434-47369438, 47370020, 47370023-47370036, 47370039-47370040, 47370065-47370084, 47371444-47371453, 47371473, 47371565-47371604, 47371645-47371649, 47372064, 47372067-47372069, 47372877-47372903, 47372933-47372950, 47372968-47372995
119SLC39A13110.89247311827957120111647431773-47431778, 47433921-47433927, 47434952-47434968, 47434975, 47434986, 47435226-47435230, 47435988-47436007, 47436333-47436334, 47436380-47436398, 47436426-47436427, 47436696-47436710, 47436839-47436863
120RAPSN110.70298627925747368123947459526-47459564, 47459580-47459598, 47460283-47460291, 47460369, 47460374-47460380, 47460386-47460387, 47460391-47460393, 47460406, 47460435-47460454, 47462717-47462751, 47463186-47463234, 47463245-47463260, 47463411, 47463430, 47463433, 47463451-47463471, 47464208-47464251, 47469550-47469594, 47470340-47470382, 47470466-47470470, 47470474-47470479
121NDUFS3110.966037735849062779547600644-47600648, 47600824-47600826, 47600857-47600861, 47600865, 47602441-47602450, 47603724-47603726
122SERPING1110.998669328010652150357381976-57381977
123TMEM216110.96969696969697826461165326, 61165329-61165335
124BEST1110.9943117178612110175861723276-61723285
125ROM1110.9744318181818227105662380816-62380842
126BSCL2110.9877609791216717138962472931-62472943, 62472979-62472982
127SLC22A12110.45006016847172914166264359035-64359046, 64359085-64359089, 64359094-64359125, 64359136-64359162, 64359174-64359210, 64359259-64359332, 64359345-64359366, 64359383-64359388, 64359396-64359430, 64360251-64360342, 64360877-64360894, 64360907-64360963, 64360992-64361027, 64361107-64361111, 64361126-64361127, 64361139, 64361151-64361152, 64361170-64361187, 64361195-64361239, 64361269-64361275, 64365998-64366000, 64366006-64366007, 64366023-64366026, 64366038-64366040, 64366043-64366044, 64366280-64366294, 64366301-64366344, 64366376, 64367148-64367338, 64367356, 64367360, 64367839-64367880, 64367890-64367904, 64367916-64367938, 64368320-64368353
128PYGM110.75603005140372617252964514205-64514209, 64518004, 64518013-64518018, 64518807-64518842, 64519092, 64519099, 64519893-64519901, 64519972-64519973, 64520545-64520568, 64520617-64520638, 64520646, 64521015-64521122, 64521152-64521154, 64521351-64521409, 64521424, 64521447-64521467, 64521476, 64521494-64521497, 64521742-64521783, 64522172-64522174, 64522178-64522179, 64522193-64522196, 64522225-64522241, 64522281-64522308, 64522981-64522988, 64523010, 64523024-64523025, 64525268, 64525309-64525312, 64525356-64525358, 64525718, 64525758-64525793, 64525804-64525813, 64525926, 64525939-64525941, 64525950, 64525969-64525984, 64526076-64526080, 64526088-64526093, 64526138-64526160, 64527128-64527148, 64527186-64527209, 64527285-64527310, 64527342-64527365
129MEN1110.91125541125541164184864571985, 64572079-64572090, 64572162, 64572208-64572209, 64572251, 64572258-64572259, 64572557, 64572579-64572618, 64573219-64573222, 64573710, 64573718-64573720, 64575024-64575036, 64577155-64577160, 64577234-64577251, 64577255, 64577344-64577375, 64577451, 64577536-64577557, 64577573-64577575
130EFEMP2110.88063063063063159133265634431-65634437, 65634507-65634509, 65635807-65635823, 65635859-65635890, 65635984-65635990, 65636076-65636100, 65637328-65637331, 65637334, 65637361-65637377, 65637417-65637419, 65638643-65638651, 65638719, 65638821-65638833, 65639773-65639792
131CST6110.937777777777782845065780297-65780303, 65780331-65780345, 65780405-65780410
132SPTBN2110.94799944235327373717366460698-66460701, 66466110-66466115, 66466118-66466123, 66468118-66468146, 66468246-66468273, 66468281-66468324, 66468393-66468403, 66468447-66468452, 66468518-66468536, 66468588, 66468740-66468744, 66472274, 66472286, 66472289, 66472400-66472402, 66472581-66472585, 66472623-66472626, 66472707-66472709, 66472736-66472762, 66473247-66473248, 66473259, 66473292-66473307, 66475073-66475121, 66475207-66475255, 66475615-66475643, 66475671, 66475674, 66475690-66475691, 66475694-66475697, 66475701, 66475706, 66475709-66475710, 66475739-66475743, 66475746, 66476402-66476404, 66478232, 66482757
133PC110.87362171331637447353766616397, 66616465, 66616789, 66616835-66616838, 66617202-66617207, 66617323-66617325, 66617329, 66617558, 66617695, 66617698-66617700, 66617727-66617737, 66617843-66617847, 66617902, 66617913-66617914, 66617917-66617923, 66618158, 66618165-66618169, 66618216, 66618277, 66618290, 66618323, 66618326-66618342, 66618373-66618389, 66618548-66618553, 66618566, 66618604-66618620, 66618663-66618665, 66619301-66619315, 66619387-66619392, 66619918-66619921, 66619935-66619939, 66619977, 66619988-66619993, 66620018, 66620035, 66620039, 66620044, 66620065-66620071, 66620096-66620127, 66620809-66620818, 66631268-66631290, 66631319-66631320, 66631332-66631335, 66631344-66631356, 66631360-66631373, 66631408-66631421, 66633658-66633698, 66633711, 66633716, 66636418, 66637799, 66637802, 66637881-66637886, 66638356, 66638611-66638637, 66638827, 66638863, 66638897, 66638906, 66638934-66638945, 66638951, 66639159-66639165, 66639176-66639211, 66639223, 66639273-66639294, 66639529-66639531, 66639537-66639538
134CABP4110.5603864734299536482867222929-67222938, 67222951-67222990, 67223010-67223058, 67223064-67223099, 67223114-67223123, 67223127-67223128, 67223132, 67223143-67223144, 67223148-67223153, 67223166-67223170, 67223175, 67223192-67223223, 67223248-67223254, 67223258, 67223666-67223689, 67223770-67223777, 67223780-67223782, 67223818-67223825, 67223871-67223908, 67223911-67223913, 67225129-67225131, 67225842-67225854, 67225882, 67225908-67225961, 67226112-67226118
135AIP110.2004028197381779499367254477-67254486, 67254497-67254555, 67254565-67254570, 67254573-67254595, 67254611-67254628, 67256738, 67256751-67256799, 67256807-67256926, 67257509-67257672, 67257684-67257685, 67257787-67257928, 67258259-67258326, 67258333-67258464
136NDUFV1110.998566308243732139567374476-67374477
137NDUFS8110.4075829383886337563367799619-67799656, 67799665-67799672, 67799758-67799800, 67800412-67800433, 67800439, 67800456-67800479, 67800578-67800580, 67800642-67800690, 67800701-67800721, 67800741-67800750, 67803720-67803794, 67803828-67803848, 67803943-67803949, 67803974-67804017, 67804052-67804060
138TCIRG1110.52948255114321173249367808739-67808757, 67808763-67808801, 67808825-67808827, 67809220-67809228, 67809250-67809255, 67809258-67809261, 67810110-67810156, 67810171-67810225, 67810240-67810308, 67810320-67810325, 67810444-67810498, 67810842-67810870, 67810883, 67810890-67810907, 67810924-67810964, 67811038-67811084, 67811281-67811298, 67811307-67811374, 67811599-67811663, 67811700-67811811, 67812425-67812443, 67812525-67812548, 67814901-67814923, 67814931, 67814934, 67814970-67814979, 67814982, 67815018-67815026, 67815114-67815120, 67815226-67815253, 67815421-67815425, 67816379-67816380, 67816424-67816428, 67816548-67816599, 67816672, 67816675-67816677, 67816723, 67816728-67816733, 67816746-67816761, 67817130-67817143, 67817156-67817168, 67817173, 67817190-67817255, 67817429-67817436, 67817472-67817483, 67817525-67817526, 67817608, 67817624-67817672, 67817713-67817721, 67817958-67817963, 67817972-67817990, 67817993-67818002, 67818011-67818014, 67818041-67818047, 67818090-67818097, 67818250-67818267, 67818280
139LRP5110.90738448844884449484868080183-68080273, 68115563-68115568, 68115651-68115667, 68125140, 68125241-68125245, 68125249-68125251, 68125255-68125256, 68125261, 68131260, 68131264, 68131292-68131298, 68131303-68131309, 68131335-68131342, 68131349-68131383, 68133136, 68133143-68133146, 68154038, 68154043, 68154048, 68154070, 68154073, 68154112-68154127, 68171017, 68171022-68171037, 68174091-68174101, 68174246-68174265, 68177382-68177395, 68178911, 68179030-68179032, 68179066, 68179073, 68179078, 68181427-68181431, 68183823, 68183943-68183946, 68191062-68191066, 68201223-68201225, 68201236, 68201245, 68201251, 68201254, 68201258, 68201265, 68204381-68204391, 68204402, 68205948-68205963, 68205988, 68207333-68207351, 68207368, 68207374-68207384, 68213944-68213948, 68213958, 68213967, 68213970, 68213979, 68216311-68216360, 68216451-68216476
140CPT1A110.9810508182601244232268540733-68540752, 68540817, 68540822, 68552292-68552313
141IGHMBP2110.95338698859826139298268671421, 68671441, 68671473-68671474, 68671477-68671487, 68671497, 68696657, 68696683-68696689, 68696695-68696729, 68696732, 68700869, 68704077-68704087, 68704090, 68704126, 68704129-68704135, 68704139-68704140, 68704282, 68704302, 68704317, 68704443, 68704497-68704524, 68705776-68705785, 68707049, 68707062, 68707143-68707154
142DHCR7110.9411764705882484142871146421-71146440, 71146476, 71146527-71146533, 71146559-71146580, 71146591-71146596, 71146605, 71146644-71146647, 71146659-71146661, 71146666, 71146671, 71146676-71146679, 71146691-71146701, 71149982-71149984
143MYO7A110.5737063778582834664876841691-76841698, 76853804-76853834, 76858844-76858852, 76858882-76858952, 76858957, 76858978-76858979, 76858988-76858996, 76866953-76866976, 76866988-76866994, 76867084, 76867110-76867137, 76867706-76867741, 76867788-76867823, 76867908-76867916, 76867964-76868050, 76868327, 76868341-76868372, 76868395-76868438, 76869323-76869331, 76869371-76869397, 76869416-76869427, 76869467-76869476, 76870493-76870553, 76871279, 76871282-76871290, 76871301, 76871309, 76871315-76871318, 76872087-76872090, 76872144-76872147, 76873186-76873188, 76873190-76873212, 76873215, 76873325-76873364, 76873907, 76873928-76873965, 76874009-76874024, 76877118-76877121, 76877143, 76877147-76877178, 76877191, 76883794-76883871, 76883885-76883931, 76885802-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892562, 76892573-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895642-76895702, 76895719-76895723, 76895738-76895760, 76900389-76900429, 76900440-76900515, 76901065-76901075, 76901086-76901107, 76901125-76901173, 76901183-76901184, 76901742-76901834, 76901899-76901906, 76903102-76903133, 76903143-76903184, 76903198-76903235, 76903257-76903260, 76903287-76903310, 76908554-76908555, 76919770-76919776
144ALG8110.998734977862112158177812238, 77812241
145FZD4110.998141263940523161486666091, 86666123-86666124
146MTMR2110.995859213250528193295657104-95657111
147DRD2110.995495495495561332113281449-113281454
148APOA1110.9614427860696531804116706622, 116706626, 116706787-116706792, 116706798-116706806, 116706870-116706876, 116707743-116707749
149FXYD2110.986301369863016438117693255, 117693295-117693299
150HMBS110.9953959484346251086118955746-118955750
151TECTA110.9989172467130776465120989104, 120998594-120998599
152ROBO3110.99254986782024314161124735474-124735475, 124735486-124735505, 124735582, 124735626-124735629, 124738883-124738885, 124738938
153ACAD8110.9975961538461531248134132473-134132475
154WNK1120.99734228563435197149862860-862862, 862865-862866, 862871-862873, 862982-862986, 863258-863261, 994813-994814
155CACNA2D4120.995020503807851734141906584-1906586, 1906618-1906631
156CACNA1C120.989330894680697065612676762-2676764, 2676935-2676936, 2690935-2690945, 2692075-2692077, 2694638, 2705108-2705120, 2787016-2787019, 2788767-2788768, 2794934-2794940, 2795425-2795431, 2797709, 2797824, 2797892, 2800295-2800297, 2800346-2800356
157VWF120.994551054252554684426085322-6085328, 6128449-6128451, 6131926-6131932, 6131955-6131982, 6132030
158TNFRSF1A120.9130116959064311913686438517-6438525, 6438580-6438635, 6438646-6438677, 6438754-6438756, 6450942-6450960
159SCNN1A120.930498399634215221876457039-6457045, 6457062, 6457258-6457270, 6457383-6457387, 6457396-6457403, 6457906-6457914, 6457965-6457968, 6458350-6458377, 6458549-6458571, 6463614-6463629, 6463698-6463701, 6463927-6463935, 6464520, 6464530, 6464557, 6472619-6472625, 6472694-6472700, 6472766, 6472769-6472771, 6472791-6472794
160TPI1120.95866666666667317506976731-6976732, 6976761, 6976764-6976784, 6976812-6976818
161ATN1120.993562832353762335737045921, 7046431, 7046715, 7047149-7047151, 7050632-7050648
162ABCC9120.999784946236561465022063851
163DNM1L120.9950248756218911221132866240-32866249, 32895614
164PKP2120.9741447891805965251433049479, 33049485, 33049492-33049493, 33049506, 33049545-33049564, 33049570-33049571, 33049628-33049665
165LRRK2120.9923523206751158758440626185, 40753084-40753086, 40757330, 40761494-40761545, 40761556
166VDR120.995327102803746128448251347, 48251359-48251362, 48272895
167COL2A1120.96012544802867178446448369793, 48371853, 48372404-48372422, 48374346-48374372, 48374735-48374736, 48375156-48375179, 48376290, 48376363, 48376895-48376905, 48377870-48377878, 48378377-48378382, 48379550-48379568, 48380153-48380166, 48381089-48381096, 48389090, 48390372, 48391389-48391393, 48391688, 48391693-48391697, 48393785-48393792, 48398062-48398074, 48398080
168MLL2120.942759118815469511661449420170-49420184, 49424129-49424137, 49424211, 49424458-49424476, 49424678, 49424811, 49425151, 49425178, 49425184, 49425192-49425194, 49425367-49425409, 49425646-49425652, 49425752, 49425777-49425801, 49425804, 49426119-49426154, 49426521-49426522, 49426573, 49426592, 49426637-49426645, 49426650-49426679, 49426728-49426732, 49426767-49426783, 49426791, 49426806-49426825, 49426845-49426868, 49426934, 49426937, 49426964-49426972, 49427006-49427080, 49427097-49427105, 49427159, 49427206-49427209, 49427251, 49427254-49427274, 49427294-49427321, 49427325-49427328, 49427447, 49427451, 49427532-49427545, 49427580, 49427645, 49427739, 49430922, 49430934-49430957, 49431090, 49431129, 49431185, 49431275-49431276, 49431279-49431322, 49431343-49431345, 49431350-49431358, 49431361-49431368, 49431445, 49431509-49431514, 49431522-49431523, 49431549-49431613, 49431639, 49431652, 49431675-49431678, 49431686-49431700, 49431704-49431707, 49431716, 49431733, 49431736-49431749, 49431760-49431764, 49431777-49431794, 49431808-49431810, 49431822-49431886, 49431906, 49431909-49431910, 49431982-49432026, 49432048-49432049, 49432116-49432131, 49432139-49432140, 49432220, 49432228, 49432231, 49432259, 49432302, 49432498, 49432532-49432540, 49432544, 49432565-49432575, 49432604-49432607, 49433083-49433102, 49433248-49433249, 49433279-49433287, 49433318-49433339, 49433342, 49433373-49433378, 49433399-49433400, 49433627-49433631, 49433705, 49433738, 49434065-49434089, 49434114, 49434349, 49434586, 49435196, 49435201-49435202, 49437988-49437991
169DHH120.9680940386230138119149483740-49483757, 49483843, 49483850-49483851, 49483864, 49483874, 49483894-49483901, 49484005, 49484048-49484050, 49484055, 49484061, 49484198
170TUBA1A120.7324561403508812245649522206-49522241, 49522259-49522290, 49522303-49522320, 49522411, 49522440-49522474
171AQP2120.976715686274511981650344623, 50344629-50344631, 50349332-50349339, 50349378-50349384
172KRT81120.9571805006587665151852682999-52683005, 52684021-52684061, 52685178-52685194
173KRT86120.9671457905544148146152696893-52696933, 52697949-52697955
174KRT1120.9870801033591725193553069117-53069139, 53069235, 53069243
175KRT4120.994957983193289178553201542-53201548, 53207830, 53207835
176AAAS120.9585618525289568164153701400-53701448, 53702572-53702578, 53702758, 53708176-53708184, 53715128-53715129
177RDH5120.905956112852669095756114969-56114985, 56115034-56115054, 56115086, 56115150, 56115156, 56115161, 56115205, 56115570-56115614, 56117762, 56118169
178RPS26120.97988505747126734856436376-56436382
179MYO1A120.999361430395912313257422985, 57436883
180CYP27B1120.999345121152591152758158964
181TSFM120.99897750511247197858177038
182GNS120.9734779987944544165965141643, 65141659, 65152889-65152903, 65152961, 65152972-65152985, 65153013-65153024
183CEP290120.999327956989255744088462321-88462324, 88535071
184TMPO120.9755395683453251208598909791-98909806, 98909886-98909898, 98921712-98921716, 98925542-98925558
185UNG120.9808917197452218942109535567, 109535570, 109535575, 109535586, 109535597, 109536309-109536314, 109547766-109547772
186MMAB120.99335989375835753110011190, 110011219, 110011235, 110011239, 110011247
187TRPV4120.876146788990833242616110221426-110221442, 110221463-110221473, 110221514-110221547, 110222121-110222134, 110224515-110224517, 110224535, 110224552-110224590, 110224616-110224629, 110230590-110230602, 110231400-110231401, 110231791-110231800, 110232184-110232198, 110232252-110232263, 110232267, 110234417-110234429, 110236436, 110236444-110236451, 110236529-110236533, 110236568-110236588, 110236681-110236688, 110238436-110238437, 110238476-110238535, 110240814-110240820, 110240854-110240858, 110246121-110246124, 110246211-110246213, 110252569
188ATXN2120.814561136478947313942112036588-112037318
189SDS120.995947315096254987113830821-113830823, 113836544
190HNF1A120.888185654008442121896121416583-121416589, 121434188-121434204, 121434213-121434216, 121434350-121434364, 121434456-121434472, 121435315-121435317, 121435393-121435396, 121437137-121437147, 121437158, 121437163, 121437290, 121437297-121437315, 121437329-121437332, 121437337-121437346, 121437361-121437379, 121437382, 121437391-121437417, 121438874-121438902, 121438909-121438912, 121438925-121438939, 121438993-121438995
191HPD120.94077834179357701182122277914-122277917, 122277931-122277932, 122277935, 122284778, 122286906, 122286913, 122286917, 122286958-122286977, 122287661-122287667, 122287671, 122292682, 122294302, 122294310, 122294511-122294531, 122295332-122295338
192ATP6V0A2120.9988331388564832571124197113-124197115
193PUS1120.915887850467291081284132414460-132414462, 132414475-132414521, 132414534-132414542, 132414588, 132414599-132414624, 132414628, 132414633-132414639, 132414659-132414665, 132416823-132416824, 132426002, 132426074, 132426091, 132426127, 132426368
194SACS130.99701601164483411374023908424-23908438, 23912875-23912876, 23928679, 23928682, 23949268-23949269, 23949272-23949285, 23949328-23949333
195PDX1130.99647887323944385228494493, 28494550, 28498431
196BRCA2130.99902505605928101025732903626-32903629, 32910764, 32912528-32912532
197FREM2130.9976866456361722951039261568-39261576, 39261894, 39261897, 39261905-39261915
198TNFSF11130.99685534591195395443148456-43148457, 43148461
199ATP7B130.999090495679854439852508904, 52523871-52523873
200EDNRB130.999247554552291132978492330
201ZIC2130.732958098811764271599100634343-100634344, 100634383-100634465, 100634499-100634561, 100634593-100634602, 100634644, 100634685-100634707, 100634744-100634747, 100634804, 100634808-100634814, 100634851-100634888, 100634996-100634999, 100635008-100635016, 100635177, 100635180, 100635184-100635195, 100637581-100637585, 100637628-100637630, 100637639, 100637671-100637688, 100637698-100637780, 100637812, 100637815, 100637828-100637852, 100637856-100637862, 100637867-100637872, 100637915-100637932
202PCCA130.986739826246292187101101506-101101534
203COL4A1130.99021956087824495010110864252, 110959309-110959356
204F7130.2322097378277210251335113760156-113760219, 113765004-113765028, 113765035-113765057, 113765066-113765164, 113768074-113768090, 113768184-113768196, 113768246-113768248, 113768263-113768271, 113769974-113769977, 113769980-113769981, 113770000-113770105, 113771080-113771101, 113771156-113771184, 113771188-113771189, 113771787-113771876, 113771904-113771910, 113772727-113772757, 113772764-113772874, 113772880-113772919, 113772928-113773017, 113773024-113773069, 113773092-113773145, 113773159, 113773168-113773177, 113773183-113773190, 113773204-113773322
205F10130.701431492842544381467113777170-113777175, 113777199-113777234, 113798195, 113798199, 113798214, 113798259-113798287, 113798328, 113798350, 113798366-113798376, 113798384-113798398, 113803230-113803235, 113803270-113803295, 113803316, 113803321-113803370, 113803393, 113803396-113803437, 113803501-113803587, 113803604-113803610, 113803627-113803701, 113803746-113803755, 113803788-113803810, 113803819-113803826
206GRK1130.758274231678494091692114321723-114321726, 114321768-114321783, 114321797-114321833, 114321854-114321860, 114321870, 114321901-114321954, 114321978-114321989, 114322031-114322049, 114322052, 114322106-114322123, 114322134-114322164, 114322182-114322218, 114322225-114322245, 114322289, 114324030-114324031, 114324104, 114324108-114324112, 114325853-114325901, 114325936-114325965, 114426047-114426052, 114426063, 114426077, 114426081, 114426087-114426090, 114426129, 114434203-114434205, 114434209, 114434221, 114434235, 114435910-114435929, 114435964, 114436037-114436058
207TEP1140.9951801116184738788420841248-20841250, 20850869-20850870, 20850874, 20851758-20851774, 20852643-20852657
208SLC7A7140.9830729166666726153623282121-23282128, 23282136, 23282153-23282154, 23282164, 23282187-23282190, 23282534-23282543
209PABPN1140.904451682953318892123790689-23790702, 23790706, 23790754, 23790757, 23790760, 23790804-23790815, 23790890-23790927, 23791010-23791029
210MYH6140.9943298969072233582023858117, 23858207-23858224, 23858232-23858234, 23863310, 23868001, 23868005, 23868131, 23868134-23868137, 23868238, 23871982-23871983
211MYH7140.999827823691461580823894006
212NRL140.949579831932773671424550563, 24550585-24550617, 24551825, 24551828
213PCK2140.999479979199171192324572446
214TGM1140.9861450692746534245424723486-24723494, 24724009, 24724218-24724229, 24724295, 24724358, 24728940-24728941, 24729840, 24731463-24731469
215FOXG1140.75646258503401358147029236620-29236970, 29237035, 29237046, 29237049-29237051, 29237061, 29237066
216COCH140.984875983061125165331344262-31344286
217NKX2-1140.79270315091211250120636986569-36986607, 36986696-36986709, 36986732-36986744, 36986750-36986760, 36986771-36986773, 36986820, 36986832-36986852, 36986872-36986905, 36986931-36986953, 36987160-36987171, 36988341-36988347, 36988358-36988408, 36989314-36989334
218MGAT2140.9233630952381103134450087987-50088015, 50088026, 50088036, 50088050, 50088097, 50088120-50088156, 50088171-50088186, 50088280-50088281, 50088372-50088384, 50088388, 50088610
219C14orf104140.69530628480509766251450094763-50094764, 50100271-50100277, 50100361-50100363, 50100366-50100390, 50100423-50100430, 50100473-50100508, 50100618-50100656, 50100669-50100670, 50100674-50100691, 50100735-50100737, 50100745-50100804, 50100830-50100836, 50100916-50100947, 50100966-50100986, 50101007-50101053, 50101078-50101173, 50101194-50101272, 50101290, 50101293, 50101314, 50101344-50101387, 50101398-50101402, 50101416-50101454, 50101468-50101490, 50101528-50101590, 50101625-50101662, 50101694-50101729, 50101732-50101734, 50101836-50101862
220PYGL140.9650157232704489254451410931-51410950, 51410987-51410989, 51411033-51411036, 51411047-51411086, 51411098-51411119
221GCH1140.903054448871187375355369209-55369258, 55369266-55369271, 55369275, 55369290-55369298, 55369347, 55369372-55369377
222SYNE2140.9998069870681342072464434451, 64465029-64465031
223ZFYVE26140.9984251968503912762068242684-68242695
224VSX2140.90515653775322103108674706384-74706426, 74706430, 74706456-74706483, 74706590-74706616, 74707885-74707888
225EIF2B2140.999053030303031105675471603
226TGFB3140.997578692493953123976446996-76446998
227ESRRB140.994106090373289152776964686-76964694
228POMT2140.95117620949845110225377786813-77786837, 77786848-77786858, 77786864-77786872, 77786897-77786904, 77786917-77786919, 77786933-77786945, 77786965-77786989, 77787009-77787024
229ATXN3140.998158379373852108692537332, 92537354
230AMN140.0249632892804713281362103389026-103389068, 103390048-103390073, 103390083-103390100, 103390103-103390108, 103390117, 103390126-103390166, 103390279-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
231INF2140.09466666666666733953750105167703-105167735, 105167743-105167746, 105167760-105167810, 105167817-105168049, 105168061, 105168064, 105168078-105168093, 105169442-105169557, 105169632-105169790, 105170253-105170286, 105172372-105172477, 105172488-105172513, 105173248-105173260, 105173284-105173338, 105173344-105173388, 105173609-105173665, 105173672-105173820, 105173842-105174339, 105174773-105174924, 105175008-105175041, 105175067-105175069, 105175618-105175627, 105175632-105175645, 105175649-105175661, 105175668-105175691, 105175720, 105175957-105176042, 105176425-105176525, 105177274-105177327, 105177416-105177523, 105177966-105178036, 105178770-105178890, 105179165-105179329, 105179544-105179646, 105179782-105179943, 105180540-105180640, 105180649-105180693, 105180696, 105180706-105180710, 105180719-105180722, 105180741-105180791, 105180809-105180867, 105180885-105180943, 105180949-105181163, 105181179-105181193, 105181656-105181676
232NIPA1150.8060606060606119299023048843-23048846, 23049044-23049053, 23086234-23086411
233IVD150.99843871975022128140698033-40698034
234CHST14150.8815207780725134113140763420, 40763423-40763436, 40763449-40763520, 40763523-40763556, 40763559-40763568, 40763571-40763572, 40763688
235CDAN1150.9923995656894728368443021790-43021795, 43028663-43028671, 43028709, 43028719, 43028783-43028786, 43028921-43028927
236STRC150.9874249249249267532843896303-43896312, 43900150-43900156, 43907745-43907751, 43909835, 43910440, 43910863-43910903
237STRC150.9928205128205114195044007207-44007213, 44009294-44009300
238SPG11150.9957719585379231733244859627, 44859724-44859733, 44892770, 44914506-44914523, 44918575
239DUOX2150.9952657628577622464745398398, 45398469, 45403617-45403630, 45403681-45403683, 45404061, 45404066, 45404136
240GATM150.992924528301899127245670614-45670622
241TPM1150.99649122807018385563336015-63336017
242PPIB150.99539170506912365164455182-64455184
243SPG21150.99568500539374492765262470-65262472, 65275896
244CLN6150.92841880341886793668500478-68500497, 68500650, 68503625-68503628, 68504024-68504027, 68521840-68521863, 68521873-68521875, 68521878, 68521885-68521886, 68521890, 68521912-68521918
245HEXA150.997484276729564159072668170, 72668246, 72668277, 72668281
246HCN4150.75858250276855872361273614848, 73614875-73614887, 73614898-73614899, 73614903-73614909, 73615059-73615066, 73615128-73615150, 73615390-73615434, 73615472-73615475, 73615483-73615493, 73615613-73615635, 73615740-73615750, 73615948, 73615975-73615978, 73615982, 73616017-73616023, 73616154-73616211, 73616290, 73616462, 73616466, 73617709, 73659840-73659849, 73659873-73659879, 73659907-73659920, 73659936-73659985, 73660002-73660005, 73660011-73660140, 73660148-73660174, 73660190, 73660194-73660380, 73660393-73660611
247PSTPIP1150.0255795363709031219125177287945, 77287948-77287950, 77310489-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
248RPS17150.99754901960784140883208801
249FANCI150.999247554552293398789836054-89836056
250POLG150.9927419354838727372089865012, 89876397, 89876824-89876847, 89876951
251MESP2150.714405360134341119490319593-90319637, 90319644-90319675, 90319711-90319736, 90319743-90319773, 90319785-90319794, 90319838-90319839, 90319847-90319884, 90319913-90319930, 90319940, 90319990-90320012, 90320019, 90320043-90320064, 90320111-90320114, 90320135-90320146, 90320149, 90320156-90320176, 90320228-90320241, 90320272, 90320279, 90320369-90320396, 90320429, 90320509-90320512, 90321303-90321306, 90321465
252BLM150.9795486600846387425491303410-91303449, 91337447, 91337459-91337462, 91337473-91337477, 91337530-91337554, 91337576-91337587
253VPS33B150.998381877022653185491548930-91548931, 91565422
254IGF1R150.9965886939571214410499192891-99192904
255HBZ160.41724941724942250429202979, 202983-202985, 202998-203002, 203920-203974, 203990-204095, 204271-204272, 204278-204328, 204338-204352, 204373-204375, 204378-204385, 204395
256HBM160.9765258215962410426216313-216315, 216326-216332
257HBA2160.38228438228438265429222912-222962, 222978-223006, 223124-223129, 223173-223178, 223192-223199, 223209-223218, 223229-223232, 223243-223263, 223286-223328, 223471-223514, 223529-223571
258GNPTG160.77559912854032069181401967-1402018, 1402103-1402145, 1402240-1402307, 1411744-1411748, 1411873-1411894, 1412051-1412052, 1412110-1412118, 1412207, 1412217, 1412231, 1412285, 1412298
259CLCN7160.29487179487179170524181496632-1496706, 1496713-1496718, 1497007-1497008, 1497017-1497087, 1497393-1497567, 1497656-1497715, 1498356-1498369, 1498390-1498413, 1498424-1498485, 1498682-1498722, 1498739-1498767, 1498967-1499094, 1499277-1499328, 1500498-1500667, 1501624-1501629, 1501635-1501665, 1501671-1501715, 1502756-1502894, 1503836-1503870, 1503872, 1503879, 1504419-1504466, 1505135-1505229, 1505240, 1505754-1505796, 1506114-1506150, 1506154-1506202, 1507256-1507259, 1507706-1507737, 1507746-1507757, 1509109-1509116, 1509131-1509188, 1510440-1510446, 1510937-1510949, 1511431, 1524835-1524848, 1524850, 1524861-1524975
260IGFALS160.1055900621118172819321840601-1840748, 1840757-1841220, 1841227-1841663, 1841675-1841691, 1841700, 1841718-1841750, 1841762, 1841769-1841898, 1841922, 1841933-1842112, 1842127-1842213, 1842217, 1842233-1842250, 1842273-1842333, 1842338-1842339, 1842357-1842421, 1842430-1842477, 1842497-1842516, 1843640-1843653
261GFER160.182847896440135056182034220-2034477, 2034748-2034793, 2034800-2034804, 2034816-2034819, 2034824-2034825, 2034835, 2034858-2034912, 2035867-2035955, 2035968-2036012
262TSC2160.079461651917404499354242098617-2098686, 2098692-2098693, 2098721-2098754, 2100401-2100441, 2100449-2100487, 2103343-2103447, 2104297-2104314, 2104327-2104331, 2104347-2104348, 2104357-2104362, 2104385, 2104388-2104415, 2104421-2104426, 2105405-2105411, 2105414-2105419, 2105435-2105468, 2105520, 2106197-2106245, 2106645-2106695, 2106715-2106745, 2107169-2107170, 2107174, 2108748-2108849, 2108866-2108874, 2110671-2110814, 2111872-2111925, 2111946, 2111955-2111984, 2112007-2112009, 2112498-2112601, 2112973-2113054, 2114273-2114428, 2115520-2115636, 2120457-2120579, 2121511-2121617, 2121785-2121935, 2122242-2122324, 2122330-2122364, 2122872-2122897, 2122915-2122972, 2124201-2124390, 2125800-2125893, 2126069-2126171, 2126492-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
263PKD116012912129122139728-2140195, 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
264ABCA3160.67409579667644166751152327598-2327625, 2327912-2327919, 2327962-2327964, 2328008-2328020, 2328070, 2328354-2328395, 2328403-2328412, 2328975-2328992, 2329004-2329055, 2329093-2329099, 2331044-2331072, 2331103-2331106, 2331109-2331116, 2331122-2331222, 2331382-2331446, 2331456, 2331498-2331510, 2333187-2333270, 2333298-2333307, 2333310-2333352, 2334280-2334295, 2334302-2334396, 2334427-2334438, 2334780-2334786, 2334810-2334811, 2334823-2334828, 2334849-2334887, 2334896-2334937, 2334948-2334999, 2335443-2335460, 2335486-2335490, 2335547-2335584, 2335642-2335647, 2336695-2336711, 2336789, 2336803-2336808, 2336914, 2336949-2336959, 2336962, 2338039-2338043, 2338067-2338095, 2338169, 2338234-2338270, 2338316-2338323, 2339471-2339475, 2339483-2339484, 2339490, 2339493, 2339510, 2339530-2339600, 2339611-2339621, 2342141-2342171, 2342197-2342232, 2345607, 2345664-2345680, 2345736, 2345739-2345741, 2347330-2347343, 2347376-2347411, 2347424, 2347449-2347477, 2347491-2347494, 2347498, 2347504, 2347514-2347540, 2347770, 2347773-2347783, 2347816, 2347819-2347827, 2347839, 2347861-2347893, 2347906-2347921, 2348398-2348399, 2348413-2348422, 2348446-2348449, 2348460-2348489, 2348520-2348541, 2349404-2349409, 2349455-2349485, 2349491-2349499, 2349516-2349523, 2350006-2350034, 2350066-2350074, 2354051-2354063, 2354066, 2354098-2354113, 2354120-2354122, 2358538, 2358606, 2367753-2367759, 2369590-2369623, 2369635-2369666, 2369740-2369775, 2376041, 2376414
265MEFV160.9254049445865317523463296540, 3297133-3297155, 3304202-3304208, 3304421, 3304431-3304467, 3304507-3304519, 3304522-3304528, 3304548-3304551, 3304564, 3304573, 3304599-3304654, 3304659, 3304690-3304697, 3306333-3306346, 3306361
266SLX4160.9247956403269841455053632387, 3632396-3632404, 3632408-3632411, 3632476, 3632510, 3632518-3632548, 3632590-3632605, 3632638, 3632647, 3632677-3632680, 3633116-3633121, 3633132-3633140, 3633143, 3633148, 3633314-3633316, 3633321-3633325, 3633453-3633467, 3634790, 3634808-3634816, 3639014-3639048, 3639119-3639120, 3639200-3639203, 3639242, 3639457-3639459, 3639565-3639567, 3639766, 3639770, 3639776, 3639782-3639787, 3639953, 3639957, 3639989-3640001, 3640569, 3640755, 3640941, 3641042-3641049, 3642734-3642744, 3642811-3642826, 3642842-3642848, 3642860, 3644458, 3644560, 3644582, 3646208-3646228, 3646256-3646294, 3647380-3647400, 3647430-3647435, 3647466-3647488, 3647538-3647543, 3647565, 3647637, 3647647, 3647695-3647696, 3647809-3647810, 3647879-3647907, 3647964, 3647979-3647980, 3647984, 3650980-3650989, 3651070-3651075, 3652295, 3652298
267CREBBP160.9088552326374766873293777769-3777813, 3777881-3777882, 3778010, 3778136-3778142, 3778164, 3778169, 3778174-3778175, 3778274-3778361, 3778371, 3778388-3778397, 3778423-3778430, 3778434-3778464, 3778490, 3778568-3778571, 3778595-3778598, 3778615, 3778623, 3778647-3778684, 3778766-3778812, 3778849-3778887, 3778893-3778937, 3778957-3778962, 3778970, 3779002-3779031, 3779057-3779059, 3779062-3779066, 3779119-3779125, 3779132-3779221, 3779249-3779269, 3779339-3779341, 3779347-3779370, 3779377, 3779383-3779394, 3779407-3779418, 3779438-3779489, 3779701-3779724
268GLIS2160.036190476190476151815754382292-4382453, 4383348-4383442, 4383476-4383493, 4383503-4383520, 4384802-4384978, 4385061-4385194, 4385276-4385394, 4386726-4387155, 4387161-4387525
269ALG1160.8630824372759919113955128827-5128831, 5128839-5128879, 5130948-5131008, 5131015-5131057, 5132633-5132639, 5134813-5134846
270ABAT160.99800399201597315038873412-8873414
271LITAF160.99382716049383348611643548, 11647404, 11647437
272MYH11160.999831649831651594015826483
273ABCC6160.81848404255319819451216244479-16244481, 16248827, 16253353, 16253364-16253365, 16253380, 16253417-16253421, 16255295-16255321, 16255329-16255376, 16256850-16256881, 16256892-16256895, 16256907-16256910, 16256934-16256935, 16256960-16256989, 16256997-16256998, 16257031-16257049, 16259480-16259532, 16259540-16259645, 16259663-16259672, 16259693-16259695, 16259735-16259790, 16263503-16263680, 16263700-16263710, 16267161-16267233, 16267242, 16267254-16267255, 16269768-16269769, 16269781, 16269787, 16269791-16269802, 16269807, 16271317-16271322, 16271356-16271357, 16271380, 16271402-16271423, 16271467-16271474, 16272655-16272679, 16272739-16272740, 16272798-16272803, 16276339, 16276718, 16278830-16278837, 16291881-16291899, 16313411-16313422, 16313509-16313515, 16317271-16317275, 16317281-16317283
274UMOD160.9672386895475863192320359602, 20359970, 20359976, 20360042-20360083, 20360093-20360101, 20360312-20360318, 20360489-20360490
275OTOA160.997953216374277342021747694-21747700
276SCNN1B160.9947997919916810192323391913-23391914, 23391976-23391982, 23392070
277COG7160.9796800691742347231323400246-23400247, 23403745-23403747, 23409369-23409377, 23409380, 23409398, 23436119-23436141, 23436229-23436233, 23464161, 23464164, 23464172
278PALB2160.998034260039317356123614798, 23614801, 23634372, 23635378, 23646199-23646200, 23647385
279CLN3160.92255125284738102131728495340, 28497669-28497737, 28498850, 28498987-28499009, 28499055, 28499918, 28500611-28500615, 28502875
280TUFM160.89327485380117146136828855789-28855795, 28857264-28857290, 28857313-28857356, 28857367, 28857370-28857382, 28857413-28857414, 28857539-28857590
281ATP2A1160.9777112441783167300628898525-28898545, 28898757, 28898888-28898891, 28898982, 28900140-28900164, 28900185, 28900246, 28911902-28911903, 28911997-28912004, 28912213, 28913307, 28915522
282PHKG2160.9656019656019742122130760142-30760170, 30760182, 30760188, 30760231-30760236, 30768349-30768353
283VKORC1160.926829268292683649231102646-31102653, 31102657-31102660, 31105921-31105929, 31105935-31105938, 31105968-31105977, 31106008
284FUS160.9822896900695828158131191536-31191537, 31195277-31195279, 31195530-31195534, 31195675-31195683, 31196403-31196411
285SLC5A2160.9514611193660298201931499414, 31499471-31499474, 31499791-31499795, 31499943-31499949, 31500043-31500075, 31500091-31500093, 31500201, 31500243-31500250, 31500315-31500334, 31500358-31500369, 31500515, 31501742-31501744
286NOD2160.998078770413066312350745378, 50745381, 50745508-50745510, 50745525
287CYLD160.999650593990221286250811846
288SALL1160.9974842767295610397551175656-51175661, 51185077-51185080
289RPGRIP1L160.996707193515713394853672247-53672250, 53691368, 53691381, 53691494-53691500
290MMP2160.9788199697428142198355513417, 55513444-55513472, 55513506-55513517
291SLC12A3160.95958616230197125309356899224, 56899344-56899348, 56901104, 56906640, 56913018, 56913110, 56913485-56913494, 56914135-56914136, 56919253-56919257, 56920870-56920872, 56920876, 56920910, 56920931-56920971, 56920981-56920984, 56921001, 56921874-56921903, 56921920-56921932, 56921942-56921943, 56933450, 56938332
292GPR56160.9452519379845113206457684213, 57685386, 57687230-57687236, 57689354-57689357, 57689361-57689363, 57689883, 57690476-57690516, 57693325-57693329, 57693511-57693522, 57695673-57695701, 57695716, 57695719-57695723, 57695753, 57695759-57695760
293TK2160.989177489177491092466583918, 66583961-66583962, 66583975-66583981
294HSD11B2160.76600985221675285121867465152-67465416, 67469994-67470007, 67470239, 67470262, 67470534, 67470904-67470906
295LCAT160.49584278155707667132367973807-67973816, 67973846-67973856, 67973859, 67973929-67973980, 67973993-67974037, 67974055-67974064, 67974090-67974107, 67974121, 67974144-67974197, 67974257-67974287, 67974341-67974349, 67976285, 67976313-67976354, 67976389-67976427, 67976458-67976490, 67976574-67976599, 67976606-67976663, 67976769-67976789, 67976810-67976863, 67976964-67976986, 67977038-67977080, 67977851-67977861, 67977901-67977920, 67977944, 67977949, 67977953-67978004
296CDH3160.94779116465863130249068679309-68679319, 68679554-68679586, 68679616, 68679619, 68679650, 68716209-68716216, 68718670-68718673, 68719116-68719138, 68719210-68719213, 68719244, 68721451, 68721470, 68721589-68721623, 68725639-68725644
297CIRH1A160.997573993207185206169188325-69188329
298COG8160.79445350734095378183969364742-69364763, 69364778-69364953, 69364977-69364997, 69366689, 69366733, 69366736-69366740, 69368597-69368600, 69368603, 69373079-69373095, 69373124-69373139, 69373181-69373244, 69373267-69373269, 69373304-69373347, 69373374-69373375, 69373392
299AARS160.9907120743034127290770287177, 70287941, 70299558, 70301604, 70301615, 70301619, 70301627, 70302213-70302218, 70303538, 70303665-70303666, 70304153-70304163
300HP160.9852579852579918122172092224-72092237, 72093017, 72093029-72093030, 72093033
301GCSH160.7988505747126410552281129736, 81129745-81129803, 81129817-81129836, 81129854-81129878
302GAN160.9916387959866215179481348733-81348742, 81348762, 81348791, 81348874-81348876
303MLYCD160.7165991902834420148283932750-83932755, 83932773-83932815, 83932819, 83932834-83932919, 83932935-83932984, 83932996-83933016, 83933025-83933069, 83933085-83933211, 83933230-83933241, 83933270-83933277, 83941748-83941761, 83941852-83941857, 83941861
304LRRC50160.9876033057851227217884179079-84179081, 84209801-84209819, 84209864, 84209896-84209899
305FOXF1160.43771929824561641114086544176-86544270, 86544277-86544309, 86544325-86544355, 86544363-86544378, 86544405-86544432, 86544467-86544476, 86544499-86544530, 86544542-86544548, 86544590-86544622, 86544633-86544664, 86544672-86544707, 86544712-86544717, 86544735-86544741, 86544770-86544775, 86544778-86544795, 86544844-86544902, 86544910-86544947, 86544954-86544981, 86544987-86544989, 86545001-86545028, 86545085-86545107, 86546552-86546556, 86546596-86546641, 86546657-86546677
306FOXC2160.66533864541833504150686600942-86600946, 86601057, 86601066-86601073, 86601331-86601335, 86601409-86601453, 86601476-86601515, 86601582, 86601597-86601598, 86601603, 86601605-86601610, 86601613-86601614, 86601626-86601651, 86601658-86601711, 86601727-86601773, 86601800-86601839, 86601846-86601923, 86601980-86601989, 86602024-86602061, 86602075-86602077, 86602085-86602086, 86602131-86602150, 86602175, 86602180-86602195, 86602220-86602223, 86602254-86602261, 86602267-86602268, 86602292-86602330
307JPH3160.494437027147311136224787636785, 87636788-87636789, 87636850-87636924, 87636996-87637020, 87637044-87637051, 87637106-87637134, 87677864-87677868, 87678030-87678067, 87678132-87678173, 87678200-87678204, 87678280-87678291, 87678370-87678376, 87678589, 87717752-87717809, 87717832, 87717860-87717872, 87723258-87723263, 87723272-87723278, 87723295-87723599, 87723605-87723842, 87723853-87723877, 87723889-87723929, 87723933-87723937, 87723939-87723942, 87723952-87724131, 87730186-87730188
308CYBA160.1598639455782349458888709761-88709979, 88712524-88712605, 88713163-88713165, 88713185, 88713188-88713202, 88713221-88713225, 88713231-88713246, 88713509-88713561, 88714453-88714483, 88714497-88714499, 88714504, 88714512-88714517, 88714519, 88717364-88717421
309APRT160.08471454880294749754388876113-88876155, 88876164-88876191, 88876203-88876248, 88876478-88876556, 88876831-88876921, 88876936, 88876939-88876951, 88876956-88876964, 88877958-88878064, 88878228-88878307
310GALNS160.52135117909496751156988880847-88880871, 88880889, 88880895-88880897, 88880919-88880933, 88884415-88884532, 88888997-88889118, 88891189-88891218, 88891237-88891277, 88893120, 88893125-88893129, 88893132, 88893142-88893208, 88893238, 88898406-88898426, 88898460-88898482, 88901716-88901729, 88901734, 88901758, 88902168, 88902192, 88902199, 88902204-88902208, 88902223-88902225, 88902660-88902673, 88904066, 88907400-88907464, 88907470-88907488, 88908305-88908334, 88909135-88909139, 88909224-88909237, 88923171-88923245, 88923259-88923285
311SPG7160.8463149078727367238889574870-89574891, 89574918-89574934, 89574949-89575005, 89579415-89579422, 89597206, 89598396-89598404, 89613123, 89614412-89614422, 89614457-89614458, 89614468-89614500, 89614520, 89616992-89617004, 89617014-89617015, 89619441, 89619444-89619445, 89619448, 89619534-89619541, 89620226-89620233, 89620313-89620317, 89620337-89620368, 89620899-89620948, 89623357-89623387, 89623407-89623409, 89623413-89623416, 89623437, 89623456-89623499
312FANCA160.96130952380952169436889805009-89805012, 89805029-89805032, 89805599-89805606, 89805669-89805689, 89805886-89805904, 89805925, 89806442, 89806445, 89837020-89837032, 89839711-89839723, 89839757-89839767, 89842160-89842177, 89842212, 89877347, 89882945-89882964, 89882991-89883023
313TUBB3160.36659275683666857135389989810-89989866, 89998979-89998984, 89998995-89999021, 89999046-89999087, 89999881-89999909, 89999949-89999986, 90001142-90001168, 90001211-90001252, 90001289-90001292, 90001303-90001304, 90001365-90001411, 90001429-90001437, 90001457-90001463, 90001468-90001469, 90001475, 90001477-90001478, 90001487-90001494, 90001508, 90001511, 90001516, 90001521-90001528, 90001545, 90001556-90001565, 90001581-90001617, 90001630-90001636, 90001642-90001682, 90001697-90001755, 90001792-90001901, 90001909-90002002, 90002022-90002110, 90002120-90002123, 90002136, 90002170-90002212
314PRPF8170.996432648401832570081554770, 1557208-1557212, 1558660, 1558663, 1559700-1559704, 1580374-1580375, 1587782-1587786, 1587856-1587857, 1587862-1587864
315CTNS170.7847049044056525912033552141-3552143, 3552168-3552169, 3552224-3552225, 3558541-3558543, 3558601, 3559781-3559804, 3559857-3559880, 3559970-3560074, 3560088, 3561299-3561311, 3561338-3561339, 3561354, 3561373-3561389, 3561393-3561397, 3561403-3561404, 3563152-3563174, 3563247, 3563530-3563535, 3563597-3563600, 3563615, 3563619-3563628, 3563633, 3563911, 3563946-3563952
316CHRNE170.7152496626180842214824802090-4802091, 4802135-4802169, 4802181-4802186, 4802322-4802339, 4802346-4802359, 4802371-4802383, 4802493-4802510, 4802538-4802607, 4802616-4802647, 4802651, 4802669-4802679, 4802763-4802780, 4802819-4802820, 4802867-4802870, 4804088-4804091, 4804108-4804120, 4804146-4804174, 4804192-4804193, 4804349-4804354, 4804408, 4804412-4804457, 4804469-4804485, 4804861-4804883, 4805281-4805285, 4805296, 4805303, 4805333-4805340, 4805515, 4805519-4805524, 4806344-4806358
317GP1BA170.9984375319204837745-4837747
318PITPNM3170.8892307692307732429256358675-6358722, 6358732-6358762, 6358782-6358787, 6358791, 6358857-6358871, 6358873-6358875, 6358950-6358953, 6373609-6373630, 6374481-6374491, 6374502-6374542, 6374546, 6374622-6374624, 6374631-6374641, 6376059-6376074, 6377804-6377815, 6377903-6377924, 6381882-6381918, 6381939, 6382017-6382029, 6387017-6387020, 6459705-6459726
319ACADVL170.978658536585374219687123304-7123315, 7123320, 7123467, 7123470-7123474, 7123478-7123483, 7123496-7123501, 7123993-7123995, 7127668-7127674, 7127834
320CHRNB1170.93359893758310015067348447-7348468, 7348479, 7348489, 7348504, 7348625, 7348643-7348664, 7350406, 7350891, 7357837-7357839, 7358610, 7358705-7358714, 7359188-7359196, 7359223-7359249
321GUCY2D170.9057971014492831233127906372-7906497, 7906517-7906530, 7906533, 7906562-7906583, 7906630-7906634, 7906718-7906741, 7906768-7906794, 7906797-7906801, 7906833-7906847, 7906868-7906900, 7907170-7907205, 7919287, 7919551, 7919607-7919608
322ALOX12B170.987654320987652621067980372-7980381, 7980412, 7982793-7982797, 7983087, 7984460-7984468
323ALOXE3170.99859550561798321368013271-8013273
324HES7170.765486725663721596788024890, 8024932-8024973, 8024977-8024980, 8024987-8024989, 8024992-8025022, 8025046-8025050, 8025079-8025122, 8025144-8025151, 8025168-8025173, 8025182, 8025246, 8025310, 8025320-8025331
325MYH3170.9919285591619447582310544624-10544626, 10554829-10554840, 10558250-10558281
326TNFRSF13B170.99886621315193188216843825
327FLCN170.9620689655172466174017118564-17118567, 17119709, 17125880-17125890, 17129490-17129491, 17129515, 17129518-17129538, 17129586-17129588, 17131229-17131251
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342STAT5B170.94881556683587121236440359610-40359617, 40368110-40368111, 40370188-40370205, 40370741-40370767, 40371359, 40371364-40371365, 40371384, 40371387, 40371394, 40371400, 40371419, 40371423-40371424, 40371427, 40371431-40371443, 40371447-40371448, 40371451, 40371730-40371755, 40384036, 40384076-40384084, 40384136-40384138
343STAT3170.998702983138783231340498668-40498670
344NAGLU170.87410394265233281223240688291-40688295, 40688301, 40688304, 40688313-40688319, 40688345-40688359, 40688386-40688433, 40688470-40688566, 40688630-40688644, 40688656-40688667, 40689472-40689481, 40689543-40689559, 40695118-40695123, 40695233-40695236, 40695521-40695530, 40695601-40695606, 40695654-40695658, 40695744-40695754, 40695906-40695915, 40695919
345WNK4170.99732047159710373240932808-40932810, 40932814, 40932824, 40932846, 40932890-40932893
346BRCA1170.9938107869142435565541219643-41219653, 41222993-41222997, 41223071-41223086, 41223195, 41226523-41226524
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348SLC4A1170.9945175438596515273642335063-42335077
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354ITGB3170.996197718631189236745331239-45331247
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357RAD51C170.9743589743589729113156770005, 56770010, 56780606, 56780609-56780614, 56787228, 56787333-56787351
358CA4170.969116080937172993958227396-58227401, 58227424, 58227430, 58236616-58236617, 58236677-58236679, 58236717-58236732
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363AXIN2170.999605055292261253263554574
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365DNAI2170.9829482948294831181872277981-72277987, 72305440-72305450, 72306165-72306168, 72306174-72306175, 72306207-72306210, 72306226, 72308299, 72308332
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367SLC25A19170.965732087227413396373273434-73273442, 73273450-73273473
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372ACOX1170.989914271306120198373945333-73945337, 73953564-73953577, 73953580
373SEPT9170.53776263486655814176175277618-75277636, 75303255-75303258, 75398154-75398167, 75398420, 75398517, 75398599-75398616, 75398645, 75398649-75398657, 75478226-75478237, 75478243-75478304, 75478319-75478350, 75478364-75478392, 75478417, 75483549-75483555, 75483564-75483634, 75484323-75484328, 75484340, 75484365-75484385, 75484809-75484825, 75484833-75484946, 75486824-75486941, 75488703-75488721, 75488727-75488798, 75489118-75489132, 75489149, 75489158, 75493397-75493403, 75493435-75493436, 75493443-75493444, 75493447, 75494605-75494740
374GAA170.65057712486884999285978078435-78078438, 78078448-78078453, 78078481-78078522, 78078545-78078615, 78078630-78078675, 78078695-78078713, 78078721-78078734, 78078739-78078758, 78078781-78078831, 78078875, 78078891-78078927, 78079593-78079628, 78079674, 78079690-78079693, 78081383, 78081394-78081399, 78081438-78081447, 78081465, 78081473-78081476, 78081520-78081521, 78081599-78081616, 78081642, 78081647, 78082099, 78082103, 78082151-78082169, 78082178, 78082185-78082188, 78082191, 78082194-78082203, 78082318-78082329, 78082350-78082399, 78082496-78082505, 78082533-78082539, 78082571-78082607, 78083745-78083776, 78083853-78083854, 78084535-78084570, 78084586-78084612, 78084758-78084785, 78084803-78084824, 78085848, 78086377-78086400, 78086417-78086419, 78086432-78086450, 78086453, 78086455-78086456, 78086463-78086465, 78086475, 78086484, 78086487, 78086500-78086504, 78086675-78086695, 78086714-78086715, 78086752-78086801, 78086820-78086826, 78087017-78087038, 78087041, 78087051-78087073, 78087109, 78087129, 78090868-78090877, 78091405, 78091408, 78091411-78091416, 78091421, 78091434, 78091453-78091466, 78091493, 78091498-78091501, 78091514, 78092012-78092014, 78092017, 78092137-78092147, 78092452-78092462, 78092496-78092515, 78092537-78092546, 78092583-78092593, 78093116-78093122
375SGSH170.60702451954937593150978184277, 78184319-78184376, 78184384, 78184411-78184460, 78184481-78184495, 78184541-78184544, 78184606-78184618, 78184657-78184694, 78184729-78184758, 78184769-78184775, 78185870-78185883, 78185895-78185896, 78185900, 78185908-78185920, 78185949-78185964, 78186009-78186017, 78186028-78186071, 78187621-78187656, 78187666-78187668, 78188414-78188424, 78188433-78188479, 78188487-78188498, 78188553-78188564, 78188833-78188874, 78188900-78188929, 78190831-78190841, 78190904-78190905, 78190962-78190964, 78194025-78194092
376ACTG1170.50975177304965553112879477716-79477816, 79477837-79477859, 79477953-79477991, 79478031-79478037, 79478064, 79478068-79478079, 79478253, 79478260, 79478266, 79478272-79478275, 79478279-79478287, 79478290, 79478295, 79478305-79478345, 79478495-79478580, 79478627, 79478630, 79478929-79478932, 79478960-79479002, 79479013-79479054, 79479096-79479118, 79479129, 79479134, 79479145, 79479258-79479293, 79479309-79479380
377FSCN2170.00946585530764031465147979495558-79496214, 79496222-79496383, 79502078-79502115, 79502123-79502234, 79503172-79503293, 79503648-79503815, 79503901-79504106
378LPIN2180.99888517279822326912951113-2951115
379NDUFV2180.9973333333333327509102774, 9102781
380AFG3L2180.94945697577277121239412348344, 12348357, 12353088-12353100, 12356721-12356727, 12356771-12356776, 12371614-12371620, 12376987-12376991, 12376996-12377011, 12377017-12377081
381MC2R180.99888143176734189413885276
382NPC1180.9973937972374310383721166284, 21166299-21166307
383LAMA3180.99790041991602211000221269648-21269667, 21269694
384DSG2180.9967232648197811335729078215-29078225
385MYO5B180.9956733369388924554747429036-47429039, 47429121-47429123, 47429151-47429155, 47432791-47432793, 47432807, 47721156-47721163
386ATP8B1180.9952076677316318375655355593-55355596, 55359203-55359204, 55364860, 55373740-55373750
387CCBE1180.91728091728092101122157134083-57134106, 57363924, 57363933, 57364450-57364495, 57364545-57364573
388TNFRSF11A180.9627228525121669185159992586-59992653, 59992660
389CTDP1180.84199584199584456288677439948-77440220, 77440226-77440237, 77440244, 77455304-77455308, 77456027-77456045, 77457875, 77457957-77457976, 77474506, 77474666-77474667, 77474695-77474726, 77474761-77474764, 77475003-77475007, 77475013-77475026, 77475188-77475190, 77475513-77475522, 77477810-77477815, 77477831, 77477998-77478016, 77496470, 77496482, 77496503, 77496509, 77496517-77496521, 77513720-77513723, 77513727-77513741
390ELANE190.012437810945274794804852329-852395, 852876-853032, 853262-853403, 855564-855676, 855687-855794, 855958-856164
391KISS1R190.300751879699258371197917517-917529, 917554-917559, 917566-917682, 917696-917723, 917732-917746, 918544-918668, 919529, 919559, 919562-919572, 919590-919625, 919874-919912, 919922-920029, 920042-920106, 920290-920423, 920442-920467, 920548-920567, 920578, 920586-920588, 920625-920633, 920642-920644, 920657-920679, 920686-920714, 920720-920742, 920746
392STK11190.088325652841782118713021206913-1206918, 1206936, 1206940-1207004, 1207013, 1207022-1207053, 1207069, 1207076-1207091, 1207121, 1207126, 1207147-1207202, 1218416-1218432, 1218438-1218499, 1219323-1219412, 1220372-1220504, 1220580-1220716, 1221212-1221339, 1221948-1222005, 1222984-1223171, 1226453-1226646
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394GAMT190.555555555555563608101398699-1398733, 1398764-1398778, 1398811, 1398848-1398860, 1398874-1398891, 1398927-1398937, 1398941-1398944, 1398998-1399006, 1399127-1399167, 1399185-1399194, 1399523-1399527, 1399551, 1399557, 1399792-1399826, 1399851-1399859, 1399898, 1399915-1399923, 1399931-1399934, 1399936-1399937, 1401295-1401363, 1401387-1401447, 1401468-1401469, 1401472-1401475
395RAX2190.0666666666666675185553770619-3770731, 3770739-3770957, 3771525-3771526, 3771538, 3771543-3771569, 3771573-3771574, 3771577-3771633, 3771644-3771740
396MAP2K2190.2635078969243688612034090596-4090612, 4090623-4090643, 4090650-4090706, 4094452-4094496, 4095386-4095431, 4097277-4097341, 4099199-4099322, 4099329-4099332, 4099342-4099345, 4099358-4099360, 4099363-4099391, 4099404-4099412, 4101021-4101041, 4101062-4101086, 4101095-4101104, 4101116-4101141, 4101228, 4101239-4101268, 4102390-4102432, 4102449-4102451, 4110507-4110510, 4110518-4110538, 4110541-4110544, 4110569-4110572, 4110582-4110604, 4110611, 4110618, 4110641-4110653, 4117417-4117434, 4117454, 4117478-4117513, 4117524-4117552, 4117572-4117627, 4123781-4123872
397NDUFA11190.87323943661972544265894859-5894865, 5896551, 5896554, 5896565-5896566, 5896575, 5896580, 5896930-5896933, 5903623-5903652, 5903664-5903665, 5903670-5903671, 5903692-5903694
398TUBB4190.940074906367048013356495205, 6495208, 6495216, 6495239, 6495243-6495244, 6495418-6495444, 6495470-6495471, 6495563, 6495568, 6495605-6495639, 6502173-6502180
399C3190.834935897435982449926690667, 6692993-6693013, 6696634-6696643, 6697375-6697411, 6697439-6697443, 6697477-6697491, 6697693-6697695, 6697786, 6697789, 6707091-6707153, 6707195-6707204, 6707219-6707278, 6707284, 6707499-6707510, 6707544-6707545, 6707821-6707858, 6707884, 6707917-6707925, 6707930, 6709713-6709714, 6709725-6709729, 6709741-6709853, 6710672-6710721, 6710744-6710780, 6710816-6710856, 6711021-6711050, 6711189-6711198, 6713259-6713285, 6713321-6713326, 6713438-6713456, 6713494-6713517, 6714003-6714027, 6714036-6714093, 6714198-6714241, 6714363-6714372, 6714397-6714428
400INSR190.9021450952036640641497122631-7122633, 7122711-7122752, 7122890-7122903, 7122931-7122949, 7122995-7123000, 7132169-7132219, 7132223-7132225, 7132244-7132250, 7132265-7132291, 7132295-7132304, 7132316-7132322, 7132328, 7141744, 7141801-7141805, 7142846-7142852, 7142972-7142978, 7150508-7150514, 7150539-7150543, 7152743-7152784, 7152794-7152833, 7152857-7152858, 7152887-7152893, 7152911-7152938, 7163096-7163100, 7174638-7174642, 7184507, 7184648, 7293842-7293874, 7293877, 7293884-7293902
401MCOLN1190.910499139414815617437587644, 7587647-7587656, 7589966-7589969, 7593579, 7593589, 7593836-7593840, 7594002-7594035, 7594476-7594482, 7594529-7594537, 7595201-7595203, 7598409-7598424, 7598431, 7598434-7598440, 7598458-7598463, 7598500-7598520, 7598645-7598674
402PNPLA6190.8945783132530142039847605048-7605058, 7605122, 7605142, 7605586, 7606550-7606552, 7606557, 7606895-7606899, 7607521-7607526, 7607790, 7607922-7607928, 7614793-7614847, 7614878-7614888, 7614943, 7615184-7615195, 7615207, 7615215, 7615218-7615227, 7615262-7615304, 7615431-7615444, 7615880-7615886, 7615892-7615993, 7616248-7616313, 7618901, 7619157, 7619883-7619910, 7619937-7619949, 7620199-7620201, 7620236, 7620241, 7622078-7622082, 7623840-7623846
403STXBP2190.8322109988776729917827702036-7702072, 7703617, 7703644, 7704628-7704634, 7705628, 7706675-7706694, 7706697, 7706926-7706932, 7707102-7707147, 7707175-7707203, 7707413, 7707663, 7708051-7708056, 7708065-7708082, 7709618-7709624, 7711152-7711170, 7711221, 7712048-7712050, 7712065-7712105, 7712114-7712132, 7712277, 7712294, 7712306-7712329, 7712391-7712397
404ADAMTS10190.9420289855072519233128645786, 8649817-8649819, 8650016-8650043, 8650073-8650076, 8650120-8650126, 8650346-8650349, 8650429-8650470, 8650507-8650508, 8651351, 8654148-8654154, 8654242-8654249, 8654389-8654396, 8654432-8654433, 8668697-8668703, 8669906-8669934, 8670023-8670044, 8670162-8670166, 8670169-8670178, 8670221-8670222
405TYK2190.698933782267121073356410463128-10463152, 10463167-10463227, 10463626, 10463661-10463693, 10463705-10463774, 10464204-10464263, 10464274, 10464278, 10464760-10464782, 10465258-10465262, 10465266-10465282, 10467336-10467366, 10468440-10468507, 10468543, 10468560, 10468563, 10468685, 10468696-10468709, 10468712-10468716, 10468740-10468794, 10468805-10468813, 10469859-10469860, 10469867-10469880, 10469892, 10469904-10469912, 10469954-10469978, 10473033-10473080, 10475293-10475301, 10475310, 10475337-10475380, 10475434-10475447, 10475566-10475589, 10475647, 10475652, 10475703-10475706, 10475710-10475711, 10475714, 10475718, 10476200-10476228, 10476243, 10476267-10476280, 10476283, 10476293, 10476367-10476381, 10476398, 10476413-10476415, 10476418, 10476427-10476449, 10476485, 10476488-10476489, 10476497-10476498, 10476502-10476504, 10476520-10476560, 10477101-10477103, 10477112, 10477203-10477239, 10478777, 10478971-10479003, 10488890-10488915, 10488933-10489082
406DNM2190.93302717183314175261310828927-10828951, 10829014, 10870456-10870458, 10870461, 10870468-10870470, 10870474-10870480, 10893665-10893669, 10893673-10893676, 10893690-10893713, 10893725-10893757, 10893782-10893796, 10897290-10897293, 10897296, 10897303, 10897309-10897310, 10904504, 10912981, 10922958-10922966, 10922974-10922976, 10923020, 10923025-10923049, 10939740, 10939870, 10940875, 10941669, 10941673, 10941676
407LDLR190.86837011227255340258311200256-11200288, 11213383-11213390, 11215986-11216035, 11216150-11216176, 11216239, 11216245, 11216275-11216276, 11218118, 11221328-11221366, 11221401-11221408, 11221426-11221439, 11222194-11222217, 11222281-11222286, 11222300-11222315, 11223963, 11223969, 11224031-11224044, 11224106, 11224239-11224265, 11224281-11224310, 11224341, 11224417-11224438, 11227602, 11230881, 11230886, 11233906, 11233998-11234000, 11240189-11240194
408LDLR190.891228070175443128511242040-11242062, 11242104-11242111
409PRKCSH190.976055450535638158711547322, 11548706-11548707, 11548893, 11552089-11552092, 11552123-11552124, 11552129, 11552138-11552142, 11557926-11557931, 11558275, 11558338-11558343, 11558347, 11558508, 11558549-11558550, 11558555, 11559049, 11559069, 11559912, 11559917
410MAN2B1190.8498023715415456303612758097, 12758364-12758403, 12759010, 12759013-12759014, 12759018, 12759023-12759029, 12759092-12759108, 12759121-12759124, 12759132, 12759136, 12759140, 12766508, 12766597-12766601, 12766630-12766650, 12766682-12766693, 12767763-12767784, 12767830-12767870, 12768260-12768315, 12768344-12768353, 12768877-12768929, 12768940-12768955, 12769041-12769093, 12769145, 12769149-12769151, 12769154, 12769248, 12769251, 12769262-12769301, 12769314-12769324, 12772113-12772115, 12774139-12774150, 12774215, 12774218-12774222, 12774642-12774649, 12775769, 12776587, 12777473
411GCDH190.9286256643887694131713002119-13002145, 13002196-13002201, 13002206, 13004426, 13006821-13006840, 13006917-13006918, 13007019-13007020, 13007026, 13007087, 13007736, 13007802-13007804, 13007822, 13008147-13008164, 13008539-13008548
412CACNA1A190.89522669857732788752113318127-13318146, 13318153-13318221, 13318230-13318237, 13318252-13318461, 13318477-13318535, 13318552, 13318559-13318560, 13318566-13318572, 13318578-13318580, 13318587-13318735, 13318762, 13318782-13318850, 13318858-13318867, 13319570-13319632, 13319643-13319661, 13319692-13319697, 13320183, 13320188, 13320191-13320195, 13335489, 13335495-13335496, 13335547, 13409401, 13409407, 13409424, 13409427, 13409458-13409465, 13409516-13409522, 13409526, 13409595-13409596, 13409879-13409897, 13616864-13616881, 13616922-13616926, 13616943-13616945, 13616963, 13616994, 13617013-13617024
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462TPO20.7740899357601763328021480899-1480908, 1481003-1481028, 1481069-1481113, 1481191, 1481208-1481213, 1481222, 1481227-1481231, 1481291-1481303, 1481318, 1481328-1481336, 1488458, 1488466-1488470, 1488541-1488551, 1488585-1488591, 1491692-1491732, 1497611-1497615, 1497669-1497673, 1497760-1497778, 1499772-1499787, 1499807, 1499883-1499962, 1500438-1500452, 1507744-1507767, 1507848-1507849, 1520655-1520754, 1544366-1544495, 1546193-1546246
463RPS720.9897435897435965853623256-3623261
464KLF1120.9616634178037759153910183844-10183885, 10187980-10187984, 10188196-10188205, 10188208, 10192461
465LPIN120.999625888514781267311911798
466MYCN20.91326164874552121139516082263-16082269, 16082557-16082584, 16082596-16082634, 16082716-16082722, 16082838-16082850, 16082905-16082931
467MATN320.997946611909653146120212341-20212343
468APOB20.99773590417762311369221266751-21266754, 21266775-21266783, 21266786-21266803
469POMC20.976368159203981980425384116, 25384332-25384336, 25384432, 25384459, 25384466-25384476
470HADHA20.9882198952879627229226414415-26414441
471OTOF20.8958958958959624599426684971-26684977, 26685025, 26685028-26685030, 26696134, 26696138, 26696332, 26696340-26696351, 26696354-26696356, 26696859-26696865, 26696890-26696897, 26696923-26696924, 26696966-26696973, 26697381-26697415, 26697420, 26697425-26697429, 26697465-26697513, 26697522-26697528, 26698791-26698800, 26698844, 26699106-26699118, 26699165-26699173, 26699772-26699842, 26699876-26699911, 26700047-26700067, 26700092-26700116, 26700138-26700156, 26700284-26700298, 26700320-26700321, 26700333-26700334, 26700351-26700355, 26700373, 26700517-26700548, 26702135, 26702148, 26702169-26702214, 26702360-26702388, 26702418-26702427, 26702455, 26703154-26703165, 26703703, 26703826-26703829, 26705295-26705301, 26705333, 26705343-26705360, 26705445-26705460, 26706455-26706461, 26707358-26707361, 26707461-26707464, 26712547-26712567, 26712588-26712608, 26741958-26741964
472EIF2B420.999387254901961163227592306
473C2orf7120.998965606413244386729296319, 29296327-29296329
474ALK20.999177462471734486330143310-30143311, 30143499-30143500
475SPAST20.91031874662345166185132288989, 32289012-32289041, 32289083-32289093, 32289101-32289147, 32289156-32289170, 32289209, 32289214-32289227, 32289239-32289274, 32289305-32289315
476CYP1B120.78737745098039347163238301576-38301583, 38301650-38301653, 38301767-38301778, 38301922-38301950, 38301972-38301997, 38302011-38302067, 38302088-38302118, 38302136-38302138, 38302173-38302219, 38302231-38302242, 38302253-38302267, 38302270, 38302291-38302323, 38302335-38302358, 38302392-38302395, 38302397-38302417, 38302439-38302443, 38302468-38302480, 38302488, 38302494
477SOS120.9890054972513744400239222422, 39222433, 39224540, 39224544-39224566, 39281934-39281951
478ABCG520.94018404907975117195644049950-44049959, 44055130-44055146, 44058908-44058933, 44058939-44058957, 44059121-44059133, 44059198-44059201, 44059211-44059219, 44065685-44065703
479ABCG820.83234421364985339202244078829-44078831, 44079994-44079995, 44099115-44099121, 44099182, 44099195-44099199, 44099234-44099257, 44099268-44099277, 44099362-44099404, 44099410-44099445, 44100969-44100983, 44100986-44100997, 44101009-44101019, 44101039, 44101042-44101045, 44101091-44101103, 44101122-44101125, 44101587-44101618, 44102313-44102359, 44102367-44102397, 44102474-44102482, 44102519-44102540, 44102550-44102552, 44104821-44104824
480LRPPRC20.9930704898446829418544222971, 44222998, 44223001, 44223040-44223051, 44223073-44223086
481SIX320.974974974974972599945169430-45169435, 45169533-45169549, 45169639-45169640
482EPCAM20.955555555555564294547596658-47596695, 47606113-47606116
483MSH620.93460690668626267408348010373-48010632, 48018208-48018213, 48032757
484LHCGR20.999523809523811210048982764
485ATP6V1B120.9915693904020813154271163085-71163086, 71192094-71192104
486DYSF20.96556603773585219636071780215-71780216, 71797800, 71801339-71801344, 71801351, 71801428-71801451, 71825694-71825713, 71825787-71825807, 71825820-71825871, 71827950-71827957, 71829906-71829929, 71838445-71838446, 71838595-71838613, 71839797, 71840501-71840502, 71847685, 71847689-71847711, 71847722-71847729, 71847736-71847739
487SPR20.8651399491094110678673114568, 73114615-73114621, 73114661-73114670, 73114719-73114747, 73114786-73114844
488ALMS120.9996001279590551250473613028, 73613032-73613034, 73828342
489DCTN120.999478759447482383774597775-74597776
490MOGS20.92840095465394180251474688408-74688411, 74688446, 74688770-74688775, 74689001-74689017, 74689024, 74689273-74689278, 74689523, 74689580, 74689764, 74689842, 74691706, 74691727-74691755, 74692154, 74692159-74692164, 74692194-74692208, 74692218-74692247, 74692261-74692282, 74692328-74692364
491HTRA220.994916485112567137774757250-74757256
492GGCX20.975406236275856227785785673-85785683, 85788095, 85788098-85788104, 85788107-85788108, 85788517-85788551
493REEP120.971947194719471760686564617-86564633
494EIF2AK320.9632945389436123335188926495, 88926576-88926614, 88926676-88926690, 88926704, 88926720-88926786
495TMEM12720.8563458856345910371796930883-96930930, 96930992, 96930995-96930998, 96931027-96931029, 96931060-96931066, 96931073-96931112
496SNRNP20020.99968803618782641196951067-96951068
497ZAP7020.92365591397849142186098340520-98340553, 98340605-98340622, 98340706, 98340740-98340763, 98340811-98340825, 98340843-98340889, 98341657, 98341699, 98351049
498CNGA320.997601918465235208598996806-98996810
499RANBP220.941705426356595649675109336063-109336104, 109345592-109345601, 109347317-109347341, 109347836-109347859, 109347929-109347930, 109352023-109352053, 109352142, 109352185-109352191, 109357110-109357116, 109365376, 109367751-109367775, 109367841-109367874, 109368046-109368080, 109368104-109368111, 109371632-109371634, 109374949-109374955, 109378557, 109378646-109378651, 109382787-109382793, 109382915-109382946, 109383291-109383321, 109383354-109383360, 109383637-109383678, 109383769-109383798, 109383877-109383919, 109383968-109384010, 109384465-109384475, 109384561-109384567, 109384628-109384669
500MERTK20.99433333333333173000112656313-112656315, 112656319-112656323, 112656335, 112656339, 112656343, 112656353-112656356, 112656369-112656370
501PAX820.997043606799741353113993069, 113994194-113994196
502GLI220.7784078975005310554761121555014-121555024, 121708837-121708869, 121708872, 121708881, 121708956-121708981, 121708992-121709009, 121712952-121712965, 121726402, 121726434-121726439, 121726442, 121726445-121726449, 121728027-121728057, 121728162-121728180, 121729537-121729551, 121729569, 121729607-121729639, 121742293-121742297, 121745833-121745841, 121745916-121745941, 121746045-121746053, 121746077-121746107, 121746131-121746152, 121746161-121746176, 121746191-121746246, 121746260-121746331, 121746338-121746345, 121746368-121746436, 121746444-121746450, 121746457-121746472, 121746499-121746505, 121746535-121746571, 121746582-121746614, 121746714-121746723, 121746787-121746804, 121746813, 121746816-121746820, 121746836-121746870, 121747019-121747023, 121747083-121747123, 121747142-121747173, 121747181-121747195, 121747301, 121747328-121747374, 121747400-121747438, 121747452-121747459, 121747485-121747510, 121747520-121747534, 121747538, 121747540, 121747543-121747589, 121747653-121747690, 121747693, 121747698-121747704, 121747716-121747719, 121747806, 121747861-121747867, 121747982-121747988, 121748029-121748032
503BIN120.927609427609431291782127806121-127806136, 127808770-127808773, 127811504, 127811571-127811588, 127815105-127815118, 127821529, 127864436-127864470, 127864480-127864519
504PROC20.96897546897547431386128180657-128180663, 128180685, 128180700, 128180703-128180706, 128180708, 128180713-128180740, 128183794
505CFC120.64583333333333238672131279064, 131279080, 131279531-131279532, 131279535, 131279688, 131280363-131280405, 131280423-131280457, 131280742-131280773, 131280792-131280838, 131280846-131280851, 131285289-131285297, 131285305, 131285309-131285311, 131285317-131285318, 131285332, 131285343, 131285349, 131285362-131285412
506NEB20.995644337638938719974152426619-152426625, 152432667, 152432677-152432681, 152432752-152432756, 152432768-152432774, 152432781-152432790, 152432801-152432802, 152432815-152432864
507SCN2A20.9995014955134636018166172000-166172001, 166237105
508GALNT320.99421661409043111902166615319, 166626900-166626909
509ABCB1120.9984871406959263966169874602-169874607
510ITGA620.98534798534799483276173292517-173292534, 173292660-173292689
511HOXD1320.91085271317829921032176957619-176957623, 176957670-176957678, 176957681-176957692, 176957705-176957732, 176957778, 176957810, 176957963-176957970, 176957978, 176958106-176958131, 176958186
512PRKRA20.975583864118923942179315711-179315733
513DFNB5920.9990557129367311059179318283
514TTN20.9993715585348363100248179438597-179438598, 179458383-179458390, 179514901, 179516428, 179523903-179523952, 179644135
515CERKL20.94621638524078861599182468567-182468575, 182468612-182468668, 182468691-182468693, 182468768-182468784
516HSPD120.98257839721254301722198353179-198353194, 198358886-198358899
517CASP1020.998087954110931569202050811-202050813
518BMPR220.9987167147898643117203242257-203242260
519NDUFS120.99221611721612172184206992578-206992588, 206992620-206992624, 207018382
520CYP27A120.9987468671679221596219647090-219647091
521WNT10A20.94896331738437641254219745719, 219745722, 219745749-219745778, 219745805-219745808, 219757603-219757611, 219757769-219757783, 219757869-219757872
522DES20.93559801840057911413220283197-220283199, 220283221, 220283224-220283227, 220283238-220283261, 220283290, 220283319, 220283325, 220283328-220283333, 220283390-220283398, 220283439-220283449, 220283469, 220283650-220283652, 220283655-220283657, 220283660-220283661, 220283666-220283668, 220283705-220283722
523OBSL120.874714461430337135691220416251-220416269, 220416280-220416308, 220416313, 220416466-220416502, 220416834-220416882, 220416891-220416907, 220417273-220417299, 220417320, 220417323-220417331, 220417336, 220417374-220417394, 220417590-220417628, 220417641-220417685, 220417703-220417712, 220417740-220417746, 220427395, 220432062, 220434943, 220434992-220434994, 220435311, 220435348-220435365, 220435375, 220435396-220435401, 220435504-220435539, 220435573-220435606, 220435615, 220435632-220435638, 220435648-220435651, 220435661-220435699, 220435707-220435954
524CHRND20.819176319176322811554233390926-233390928, 233390941, 233390944, 233390949-233390975, 233391239-233391258, 233391375-233391384, 233393004, 233393664-233393665, 233393668-233393673, 233394651-233394670, 233394674-233394676, 233394693-233394694, 233394697, 233394744-233394765, 233394795-233394812, 233394829-233394849, 233396062-233396071, 233396101-233396107, 233396157-233396168, 233396252-233396258, 233396280-233396296, 233396307-233396308, 233396313, 233396317, 233396341-233396366, 233398641-233398642, 233398687-233398699, 233398719, 233398752-233398765, 233398803-233398809, 233398967, 233398977, 233399912
525CHRNG20.98326898326898261554233404478-233404493, 233409239-233409245, 233409275-233409277
526COL6A320.9994755611495759534238280797-238280801
527AGXT20.534351145038175491179241808283-241808447, 241808587-241808613, 241808621-241808637, 241808649-241808685, 241808706-241808779, 241810061-241810092, 241810113-241810114, 241810766-241810813, 241812421-241812438, 241813431, 241813460, 241813471-241813472, 241814558, 241814597-241814621, 241815421, 241816954-241817012, 241817026-241817033, 241817453-241817458, 241817465-241817466, 241817479-241817500, 241818180
528D2HGDH20.69412515964244791566242674640-242674673, 242674678-242674685, 242674706-242674727, 242674871, 242674876, 242680456-242680499, 242683064-242683071, 242684244-242684247, 242689580-242689634, 242689648-242689653, 242689657, 242689665, 242690731-242690740, 242690752, 242690774, 242690777-242690780, 242690790, 242695279-242695325, 242695390-242695392, 242695429, 242707125-242707133, 242707155-242707176, 242707185-242707361, 242707367-242707384
529C20orf54200.99148936170213121410745972-745983
530AVP200.206060606060613934953063276-3063448, 3063623-3063824, 3065303-3065320
531PANK2200.8587273788674824217133869787-3869793, 3869902-3869942, 3869982-3870014, 3870033-3870056, 3870093-3870127, 3870138-3870147, 3870153-3870165, 3870172-3870193, 3870196, 3870247-3870255, 3870275-3870284, 3870286-3870299, 3870343-3870365
532JAG1200.9756631118403189365710626728, 10653374-10653402, 10653469, 10653597-10653628, 10654143-10654153, 10654164-10654178
533C20orf7200.994219653179196103813782132-13782137
534THBD200.79513888888889354172823028414-23028455, 23028634-23028645, 23028700-23028709, 23028724, 23028765-23028775, 23028823-23028830, 23028961-23028975, 23029090-23029125, 23029146-23029162, 23029307-23029345, 23029382-23029403, 23029458-23029460, 23029542, 23029554-23029555, 23029573-23029585, 23029615-23029633, 23029667-23029696, 23029710-23029742, 23029809-23029810, 23029817-23029840, 23029900-23029905, 23029917-23029918, 23029989, 23030082, 23030085, 23030139-23030141
535SNTA1200.79183135704875316151831996633-31996634, 31998074-31998075, 32000172-32000178, 32000215-32000232, 32000381-32000403, 32000465-32000501, 32031133-32031216, 32031220-32031242, 32031258-32031265, 32031310-32031336, 32031342-32031426
536GDF5200.9760956175298836150634022363-34022374, 34022400-34022406, 34025154-34025168, 34025285, 34025354
537SAMHD1200.998936735778842188135545399, 35579852
538HNF4A200.993684210526329142543047098-43047103, 43048452, 43052754, 43052838
539ADA200.999084249084251109243255220
540CTSA200.9719438877755542149744519965-44519967, 44520221-44520225, 44520238-44520240, 44520243-44520246, 44520323-44520332, 44520369-44520385
541SLC2A10200.997539975399754162645338376-45338379
542DPM1200.99744572158365278349562287-49562288
543SALL4200.998418722327645316250406864-50406865, 50407607-50407609
544PCK1200.999464954521131186956137811
545GNAS200.6964769647696522473857415162-57415209, 57415237-57415249, 57415273-57415289, 57415299-57415324, 57415389-57415395, 57415453-57415469, 57415541-57415567, 57415599, 57415722, 57415792-57415826, 57415859, 57415862-57415892
546GNAS200.8757225433526387311457428505-57428507, 57428534-57428540, 57428714-57428723, 57428837-57428849, 57429067-57429074, 57429092-57429128, 57429136-57429164, 57429389-57429394, 57429436, 57429477-57429508, 57429540-57429555, 57429617-57429624, 57429631-57429663, 57429666-57429683, 57429686-57429688, 57429697, 57429712-57429765, 57429775-57429792, 57429884-57429908, 57429946-57429962, 57429993-57429998, 57430005-57430015, 57430061, 57430093-57430115, 57430150-57430155, 57430260
547COL9A3200.36253041362531310205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450574-61450631, 61450639-61450645, 61451281-61451334, 61452533-61452568, 61452859-61452882, 61453109-61453162, 61453463-61453516, 61453943, 61453963-61453973, 61453976-61453984, 61455797-61455853, 61456320-61456373, 61457169-61457222, 61457556-61457609, 61458137-61458172, 61458595-61458602, 61458617-61458618, 61458627-61458646, 61459275-61459313, 61460116-61460169, 61460275-61460305, 61460323-61460328, 61460807-61460821, 61460836, 61460980-61461015, 61461033, 61461118-61461123, 61461135-61461143, 61461165-61461171, 61461712-61461719, 61461735-61461738, 61461745-61461765, 61461869-61461912, 61461925-61461927, 61461939-61461940, 61463506-61463526, 61463535-61463538, 61464401-61464416, 61467273-61467305, 61467563-61467590, 61467618-61467635, 61467639-61467650, 61467830-61467831, 61468494-61468542, 61468562, 61468571-61468617, 61471923-61471934, 61471978, 61471997, 61472013, 61472017
548CHRNA4200.0291932059447981829188461978090-61978215, 61981005-61981837, 61981848-61982061, 61982071-61982132, 61982143-61982275, 61982280-61982340, 61982353, 61982359, 61982362-61982364, 61982368-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
549KCNQ2200.221840397098132038261962037997-62038169, 62038178-62038192, 62038201-62038445, 62038455-62038545, 62038551-62038728, 62039766-62039788, 62039794-62039831, 62039857-62039876, 62039885, 62039889, 62044803-62044809, 62044848-62044889, 62044911-62044932, 62045480, 62045491-62045500, 62045544-62045546, 62046257-62046258, 62046274-62046329, 62046349-62046367, 62046391-62046398, 62046402-62046403, 62046423-62046444, 62046469, 62050972-62050973, 62051008, 62051012, 62051020, 62059720-62059788, 62062693-62062696, 62065162-62065183, 62065196-62065201, 62065210, 62065213, 62065238-62065256, 62069983-62070005, 62070039, 62070045-62070048, 62070951-62071012, 62071025-62071061, 62073759-62073881, 62076012-62076187, 62076591-62076618, 62076628-62076717, 62078100-62078190, 62103521-62103816
550SOX18200.00865800865800871145115562679519-62679690, 62679701-62680315, 62680512-62680869
551APP210.9801124081279746231327542893-27542938
552IFNGR2210.9280078895463573101434775850-34775922
553RCAN1210.928853754940715475935987165-35987182, 35987188-35987195, 35987200-35987202, 35987205-35987215, 35987297-35987310
554RUNX1210.9708939708939742144336259302-36259309, 36259316, 36259359-36259391
555CLDN14210.891666666666677872037833274-37833293, 37833303-37833312, 37833518-37833535, 37833547-37833549, 37833586, 37833601-37833607, 37833706, 37833811, 37833817-37833826, 37833890-37833896
556HLCS210.999082989454382218138132105, 38132108
557TMPRSS3210.9926739926739910136543805530-43805539
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698COL11A260.9938591441182132521133138128, 33140129-33140134, 33140137-33140139, 33143366-33143387
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704CUL760.9966647047282717509743008304-43008317, 43008808-43008810
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709BCKDHB60.99915182357931117980877396
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721CYCS70.871069182389944131825163350-25163390
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723GLI370.9970482816782614474342005537-42005545, 42005733-42005736, 42005896
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725GCK70.802284082798277140144184830-44184834, 44184859, 44184862, 44184868-44184869, 44185141-44185163, 44185211-44185252, 44186062-44186136, 44186200-44186217, 44187329-44187333, 44187422-44187430, 44190641-44190662, 44190669, 44191870-44191884, 44191901-44191903, 44191906-44191909, 44192916, 44192920-44192945, 44193016-44193039
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727EGFR70.9771538673272883363355086971-55086975, 55086983-55087054, 55220303-55220308
728GUSB70.94887525562372100195665439399-65439404, 65439587, 65439594, 65439671-65439673, 65440012, 65441047-65441061, 65441164-65441186, 65444410-65444440, 65444731-65444739, 65444743-65444747, 65445211-65445212, 65446994-65446995, 65447070
729ASL70.49462365591398705139565546894-65546907, 65546974-65546977, 65547355, 65547367-65547393, 65547404-65547438, 65547867-65547878, 65548086-65548134, 65548143-65548149, 65551588-65551608, 65551644, 65551731-65551777, 65551794-65551808, 65552321-65552331, 65552349, 65552366-65552373, 65552725-65552752, 65553803-65553892, 65554078-65554143, 65554151-65554162, 65554263-65554276, 65554279-65554288, 65554599-65554607, 65554617-65554679, 65557002-65557014, 65557020-65557024, 65557544-65557598, 65557611-65557615, 65557633-65557650, 65557795-65557805, 65557830-65557858, 65557861, 65557877-65557899
730KCTD770.8655172413793111787066094079-66094195
731NCF170.8424242424242413082572637918-72637923, 72639746-72639753, 72639921-72639927, 72639948-72639995, 72640047, 72640081, 72641480, 72643601-72643611, 72643707, 72644258-72644264, 72645944-72645950, 72648667, 72648695-72648696, 72648707-72648709, 72648725-72648750
732ELN70.79586206896552444217573442518-73442599, 73456944-73456968, 73456983-73457017, 73457454-73457461, 73459552-73459554, 73459589-73459598, 73462025-73462033, 73462883, 73466080-73466097, 73466110, 73466114, 73466141-73466169, 73466254-73466313, 73467494-73467500, 73467580, 73467615, 73471984-73471992, 73471995, 73474226, 73474232, 73474269-73474271, 73474278-73474280, 73474290, 73474300-73474301, 73474307, 73474377, 73474470-73474471, 73474474, 73474712-73474715, 73474720, 73474725, 73474760, 73474779, 73474800, 73474820, 73474823, 73475445, 73475453-73475466, 73477491, 73477510-73477525, 73477640-73477668, 73477674, 73477951-73477968, 73478020, 73480274-73480308
733NCF170.61722080136402449117374193428-74193435, 74193486-74193503, 74193603-74193609, 74193628, 74193642, 74193663-74193680, 74193726-74193766, 74197282-74197323, 74197362, 74197389-74197390, 74197891-74197917, 74202344-74202397, 74202404-74202432, 74202903-74202929, 74202938-74203048, 74203383-74203441, 74203464-74203466
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735HSPB170.852750809061499161875932046, 75932058-75932068, 75932072-75932079, 75932177-75932193, 75932242-75932261, 75932305-75932310, 75932371, 75933162-75933165, 75933169, 75933175-75933178, 75933328-75933344, 75933489
736CD3670.994362226920378141980302672-80302679
737AKAP970.99846468781986181172491622362, 91625103-91625111, 91630377, 91707175-91707181
738SGCE70.999262536873161135694259152
739TFR270.99044056525353232406100238610-100238622, 100238709-100238717, 100238765
740SLC26A570.9982102908277442235103061304-103061306, 103061312
741RELN70.9999036330346110377103629740
742SLC26A470.9978659837814852343107302175-107302179
743SLC26A370.9978213507625352295107432363-107432367
744CFTR70.97299122214721204443117188713-117188753, 117188760-117188800, 117188841-117188843, 117188850, 117235000-117235025, 117235055-117235061, 117235079
745AASS70.9992808342322922781121769539-121769540
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747FLNC70.942651014918074698178128470692-128470709, 128470715-128470717, 128470722-128470755, 128470790-128470807, 128470828-128470876, 128470885-128470922, 128470951-128470989, 128471005-128471006, 128471009-128471026, 128477223-128477267, 128477277-128477311, 128477571-128477575, 128477692-128477694, 128477744-128477748, 128477751-128477753, 128477756-128477757, 128478321-128478357, 128478469, 128478473-128478483, 128478710-128478720, 128478780-128478785, 128481338, 128482732-128482744, 128482848-128482850, 128483328, 128483334, 128489240, 128493660-128493664, 128494098, 128494178, 128494186-128494204, 128494584-128494588, 128498187-128498193, 128498235-128498262
748ATP6V0A470.99564011097899112523138394370-138394373, 138394377, 138394384, 138394446, 138394493, 138394496-138394498
749BRAF70.99087353324641212301140624401-140624421
750PRSS170.975806451612918744142459863-142459878, 142460313, 142460335
751CNTNAP270.9997497497497513996145814031
752KCNH270.812068965517246543480150642566-150642567, 150644101-150644129, 150644461-150644473, 150644496-150644522, 150644720-150644724, 150644754-150644758, 150644775-150644790, 150645534, 150646061-150646063, 150647263-150647270, 150647443, 150648559-150648565, 150648615-150648618, 150648914-150648923, 150649815-150649818, 150649916-150649929, 150654445-150654448, 150655163-150655179, 150655189-150655230, 150655242-150655297, 150655328-150655380, 150655414-150655447, 150655458, 150655461-150655466, 150655470, 150655495-150655522, 150655531-150655534, 150655543-150655572, 150655578-150655587, 150671799-150671814, 150671853-150671960, 150671969, 150671988-150671990, 150671993, 150672003-150672004, 150672018-150672029, 150674926-150675001
753PRKAG270.97953216374269351710151573592-151573626
754SHH70.2116630669546410951389155595594-155596360, 155596375-155596420, 155598990-155599000, 155599021-155599157, 155599185-155599241, 155604517, 155604541-155604550, 155604581-155604597, 155604760, 155604769-155604816
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756CLN880.9465737514518468611719437, 1719525-1719569
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758CHRNA280.9905660377358515159027320900, 27321169-27321170, 27321379-27321390
759FGFR180.996345919610239246338314923-38314931
760ANK180.9931506849315139569441554221-41554230, 41559634, 41583412, 41583418-41583444
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763CHD780.99988881476541899461778101
764TTPA80.99641577060932383763998489-63998491
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766VPS13B80.99991662497916111994100123412
767RRM2B80.9905303030303101056103237127-103237136
768KIAA019680.9994252873563223480126095369-126095370
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770SLURP180312312143822561-143822694, 143823221-143823340, 143823746-143823803
771CYP11B180.99074074074074141512143958278-143958290, 143960597
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778GLIS390.99964196204798127934118208
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781GALT90.994736842105266114034646756, 34646759-34646761, 34646764-34646765
782NPR290.999681933842241314435792434
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787XPA90.99635036496353822100449427-100449429
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790ALG290.9976019184652331251101984055, 101984134-101984135
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793LMX1B90.93297587131367751119129376798-129376807, 129376815-129376867, 129377662-129377665, 129455582-129455589
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796GLE190.99427753934192122097131267161-131267172
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798TOR1A90.9489489489489551999132586228, 132586267-132586292, 132586304-132586327
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808LHX390.65095119933834221209139089212, 139089290, 139089294, 139089298, 139089309-139089310, 139089361-139089375, 139089385, 139089391-139089394, 139089409, 139089452-139089454, 139089460-139089461, 139089482-139089483, 139089547-139089582, 139090498-139090505, 139090520-139090558, 139090588-139090627, 139090638-139090666, 139090754-139090822, 139090842-139090853, 139090876-139090880, 139090886-139090892, 139090904-139090905, 139091528, 139091534, 139091550, 139091607-139091611, 139091625-139091630, 139091647, 139091653, 139091659-139091660, 139091675-139091688, 139091719-139091726, 139092580-139092586, 139094792-139094885
809INPP5E90.1777777777777815911935139324127-139324131, 139324215-139324226, 139324238, 139324737-139324742, 139324762-139324773, 139324809, 139324855-139324865, 139325454-139325569, 139326276-139326402, 139326428-139326437, 139326931-139326950, 139326983-139327020, 139327027-139327038, 139327408-139327454, 139327489-139327520, 139327607-139327731, 139328489-139328512, 139328519-139328586, 139329192-139329277, 139329290-139329315, 139333060-139333871
810NOTCH190.05516431924882672457668139390523-139390705, 139390720-139390739, 139390762-139390791, 139390805-139391886, 139391902-139392010, 139393361-139393393, 139393399-139393415, 139393443-139393448, 139393564-139393576, 139393593-139393631, 139393649-139393700, 139395004-139395196, 139395202-139395299, 139396200-139396365, 139396453-139396482, 139396497-139396540, 139396724-139396796, 139396835-139396844, 139396850-139396940, 139397634-139397636, 139397652-139397782, 139399125-139399137, 139399150-139399324, 139399349-139399428, 139399434-139399556, 139399762-139399973, 139399991-139400333, 139400979-139401044, 139401050-139401091, 139401168-139401286, 139401299-139401301, 139401316-139401425, 139401765-139401821, 139401832-139401889, 139402407-139402465, 139402471-139402522, 139402535-139402536, 139402543-139402588, 139402684-139402744, 139402753-139402837, 139403322-139403523, 139404185-139404273, 139404313-139404413, 139405109-139405173, 139405179-139405257, 139405604-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410029, 139410037-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
811AGPAT290.016726403823178823837139568204-139568223, 139568229-139568379, 139569187-139569245, 139569255-139569259, 139571037-139571132, 139571413-139571588, 139571875-139572008, 139581628-139581809
812SLC34A390.03777777777777817321800140126158, 140126170-140126177, 140126211-140126239, 140126524-140126609, 140127027-140127155, 140127236-140127250, 140127256-140127364, 140127370-140127379, 140127456-140127567, 140127661-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129176, 140130404-140130868
813EHMT190.7192712342827810943897140513481-140513501, 140605419-140605448, 140605451-140605482, 140611078-140611634, 140622812-140622832, 140622872-140622881, 140622891, 140622922-140622929, 140622963, 140638519, 140638524-140638525, 140669596, 140669675-140669704, 140671151-140671164, 140671260-140671265, 140671275, 140671283, 140672384-140672407, 140672468-140672476, 140672487-140672489, 140705913, 140707920, 140708891-140708899, 140708906-140708952, 140728802-140728840, 140728850-140728858, 140728864-140728869, 140728894-140728943, 140728950-140728976, 140729235, 140729270-140729362, 140729368-140729405
814SHOXX0.4061433447099522879591633-591909, 595353-595561, 601581, 601744-601747, 601759-601762, 601802-601809, 605134-605139, 605267-605278, 605296
815CSF2RAX0.4068965517241477413051401597-1401599, 1401625, 1404671-1404738, 1404774-1404790, 1404812-1404813, 1407443-1407450, 1407652-1407666, 1407680-1407693, 1407696, 1407703, 1407706, 1407758, 1407763-1407769, 1409231-1409269, 1409290, 1409297-1409304, 1409312-1409337, 1409355-1409358, 1409363-1409385, 1409396, 1413221-1413293, 1413299-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422159, 1422165-1422255, 1422816-1422912, 1424339-1424359, 1424374-1424386, 1424411-1424420
816KAL1X0.99608418991679820438699993-8700000
817GPR143X0.952941176470596012759733696-9733723, 9733750-9733776, 9733794-9733798
818TRAPPC2X0.99763593380615142313734133
819PHKA2X0.96844660194175117370818911646, 18911685-18911687, 18911754, 18912341-18912347, 18912381, 18912412, 18912418, 18912423-18912455, 18912481-18912516, 18913261-18913275, 18915298, 18915334, 18915346, 18915366, 18915422, 18915426, 18917321, 18917324, 18917337, 18917340, 18923950, 18926923, 18926928-18926933
820RPS6KA3X0.9896536212325723222320284682-20284704
821SMSX0.9745685740236128110121958943-21958968, 21958973, 21958976
822ARXX0.76021314387211405168925031153, 25031255-25031302, 25031327, 25031410-25031493, 25031501-25031507, 25031514-25031604, 25031629-25031713, 25031724, 25031763-25031812, 25031830, 25031863-25031866, 25031871, 25031885-25031915
823RPGRX0.668979473836371145345938144840-38144841, 38144859-38144862, 38144867-38144881, 38144916-38144964, 38144997, 38145010-38145084, 38145125-38145163, 38145196-38146069, 38146105, 38146114-38146117, 38146146-38146160, 38146181, 38146185-38146193, 38146203, 38146215, 38146247-38146249, 38146370-38146377, 38146433-38146441, 38147123-38147132, 38147142, 38147202, 38147234-38147251, 38150234-38150236, 38156593
824BCORX0.9994305239183526839922128-39922129, 39933930
825NYXX0.40110650069156866144641332746-41332819, 41332825, 41332835-41332860, 41332878-41332905, 41332919-41332979, 41333020, 41333023, 41333038-41333158, 41333175-41333209, 41333223-41333271, 41333279-41333348, 41333356-41333387, 41333394-41333440, 41333451-41333569, 41333608-41333651, 41333677, 41333692-41333740, 41333749-41333752, 41333756-41333757, 41333798, 41333831-41333853, 41333904-41333913, 41333978-41333998, 41334019-41334045, 41334064-41334067, 41334103-41334117
826MAOAX0.995580808080817158443571981-43571983, 43571989, 43572030-43572032
827SYN1X0.99858356940513211847433815-47433817
828PQBP1X0.959899749373433279848758473, 48758527-48758538, 48759750, 48759777, 48760331-48760347
829CACNA1FX0.9971351533535617593449061646-49061647, 49061654-49061658, 49065144, 49065789-49065792, 49066153, 49067114-49067116, 49067119
830FOXP3X0.88888888888889144129649107805-49107833, 49107896-49107906, 49107919, 49107934, 49107937-49107944, 49108158, 49108206-49108226, 49110482-49110490, 49112188-49112193, 49113264, 49113420-49113424, 49113924, 49114216-49114223, 49114809-49114810, 49114862-49114888, 49114910-49114922
831FGD1X0.9934164934164919288654494251-54494253, 54521743-54521744, 54521792, 54521805, 54521813-54521819, 54521856-54521860
832ARX0.998552298226574276366765159-66765162
833DLG3X0.9938875305623515245469665131-69665132, 69665138-69665139, 69665147-69665148, 69665185-69665192, 69665300
834MED12X0.994796449341934653470360647, 70360650, 70360656, 70361094-70361124
835GJB1X0.99765258215962285270444404-70444405
836TAF1X0.9855684618092282568270586165, 70586170, 70586177-70586256
837SLC16A2X0.9918566775244315184273641394-73641404, 73641734, 73641745-73641747
838PCDH19X0.9851784633998849330699662554-99662559, 99662869, 99663081, 99663086-99663089, 99663386-99663392, 99663435, 99663567-99663595
839NDUFA1X0.985915492957753213119005945-119005946, 119007268
840CUL4BX0.9890590809628302742119691779-119691786, 119694347, 119694354-119694361, 119694411-119694423
841XIAPX0.9966532797858151494123019582-123019583, 123019610-123019611, 123040948
842OCRLX0.9992609016999322706128674440, 128674443
843GPC3X0.98565691336776251743133119396-133119402, 133119426-133119443
844ZIC3X0.95441595441595641404136648910-136648915, 136648985-136648987, 136649621-136649630, 136651130-136651145, 136651159-136651184, 136651222-136651224
845SOX3X0.89932885906041351341139585976-139585997, 139586027-139586033, 139586142-139586156, 139586475-139586505, 139586516-139586556, 139586697-139586704, 139586800, 139586851-139586860
846AFF2X0.99390243902439243936147582618-147582641
847FAM58AX0.9360544217687147735152864473-152864480, 152864483-152864521
848SLC6A8X0.564989517819718301908152954030-152954291, 152955832-152955867, 152955884-152955899, 152956762, 152956777-152956780, 152956793-152956794, 152956878-152956913, 152956939, 152956978, 152957439-152957452, 152957457-152957459, 152958739-152958759, 152958821, 152958917-152958933, 152959361-152959405, 152959457-152959472, 152959605, 152959619-152959656, 152959701-152959717, 152959821-152959866, 152959872-152959881, 152959893-152959901, 152960000-152960011, 152960017-152960088, 152960202-152960271, 152960281-152960331, 152960343-152960344, 152960529-152960553, 152960629
849ABCD1X0.4883824843610411452238152990728-152990830, 152990844-152990847, 152990856-152990871, 152990887-152991025, 152991032-152991055, 152991076-152991117, 152991122, 152991150, 152991153-152991154, 152991166-152991171, 152991191, 152991194-152991252, 152991276-152991286, 152991358-152991364, 152991370-152991378, 152991387-152991455, 152991461-152991464, 152991478-152991549, 152991586-152991621, 152994688-152994697, 153001566-153001569, 153001803-153001821, 153001832-153001836, 153001883-153001923, 153001931-153001967, 153002612-153002620, 153002642-153002654, 153002678-153002683, 153002693-153002697, 153005546-153005563, 153005625-153005626, 153005633-153005647, 153006040-153006046, 153006060, 153006089-153006120, 153006134-153006156, 153008456-153008486, 153008699-153008706, 153008728-153008749, 153008756-153008800, 153008943-153008962, 153008979-153009007, 153009027-153009065, 153009084-153009181
850L1CAMX0.875728669846324693774153128132-153128135, 153128212, 153128326, 153128938, 153129004, 153130111-153130117, 153130287-153130360, 153130395-153130408, 153130627, 153130629-153130630, 153130640-153130642, 153130834-153130841, 153132151, 153132863-153132877, 153133811-153133815, 153134157-153134169, 153134347-153134394, 153135020-153135054, 153135090-153135102, 153135270-153135271, 153135304-153135313, 153135342-153135362, 153135526-153135537, 153135581-153135607, 153135630-153135640, 153135872-153135891, 153135897-153135899, 153135933, 153136338-153136341, 153136354-153136383, 153136512-153136536, 153136574-153136596, 153136609-153136610, 153141231-153141253, 153141284-153141291
851AVPR2X0.907706093189961031116153171146-153171172, 153171313-153171342, 153171419-153171425, 153171546-153171556, 153171702-153171708, 153171860-153171862, 153171993, 153172079-153172095
852MECP2X0.95056780227121741497153296041, 153296205-153296216, 153297824, 153297875-153297880, 153297930, 153363061-153363071, 153363081-153363122
853OPN1LWX0.97808219178082241095153418521-153418544
854OPN1MWX0.97716894977169251095153455651-153455668, 153459077-153459083
855OPN1MWX0.97716894977169251095153492769-153492786, 153496195-153496201
856FLNAX0.5362537764350536847944153577217, 153577255-153577287, 153577329-153577365, 153577381-153577404, 153577765-153577788, 153577808-153577846, 153577883-153577893, 153577900-153577904, 153577912, 153578017-153578030, 153578041-153578044, 153578056, 153578113-153578116, 153578126, 153578214-153578235, 153578434-153578466, 153578538-153578557, 153579278, 153579281-153579285, 153579319, 153579337, 153579342, 153579355-153579356, 153580030-153580042, 153580283-153580285, 153580293-153580299, 153580310-153580313, 153580317, 153580551-153580594, 153580610-153580668, 153580685-153580686, 153580699-153580708, 153580755, 153580767-153580775, 153580810, 153580934-153580981, 153581008-153581022, 153581027, 153581140-153581165, 153581187, 153581192-153581203, 153581206-153581208, 153581282-153581283, 153581369-153581380, 153581394, 153581398-153581417, 153581422, 153581444-153581451, 153581502-153581518, 153581546, 153581548-153581572, 153581678-153581712, 153581730-153581825, 153581938-153581941, 153581944, 153581950, 153581964, 153581970-153581995, 153582007-153582053, 153582074, 153582077, 153582089-153582093, 153582283-153582292, 153582376-153582411, 153582539-153582554, 153582578-153582650, 153582757-153582780, 153582987, 153582996-153583036, 153583059-153583079, 153583229, 153583242-153583265, 153583334, 153583337-153583348, 153583374-153583411, 153583422-153583425, 153583431-153583433, 153583436-153583437, 153583440, 153585802-153585848, 153585863-153585875, 153585878-153585881, 153585926-153585936, 153585965-153585991, 153586567-153586612, 153586633, 153586636-153586649, 153586666, 153586670, 153586699-153586723, 153586825-153586859, 153586878, 153586885, 153586905, 153586920-153586936, 153587372-153587406, 153587466-153587472, 153587498-153587522, 153587614-153587672, 153587708, 153587712, 153587716-153587722, 153587769, 153587862-153587866, 153587878, 153587890-153588007, 153588013, 153588106-153588149, 153588166, 153588179, 153588182-153588199, 153588204, 153588217, 153588227-153588269, 153588358-153588359, 153588366, 153588383-153588423, 153588441-153588493, 153588501-153588505, 153588552-153588570, 153588573, 153588576-153588582, 153588595-153588598, 153588622-153588654, 153588680, 153588766-153588778, 153588808-153588955, 153589697, 153589700-153589709, 153589715-153589743, 153589749, 153589752, 153589769-153589796, 153589815-153589852, 153589923-153589938, 153590046, 153590092-153590120, 153590126-153590129, 153590135-153590155, 153590347-153590357, 153590372-153590413, 153590442-153590443, 153590469, 153590472-153590506, 153590512-153590514, 153590610-153590618, 153590631-153590642, 153590657, 153590668-153590669, 153590676, 153590682-153590684, 153590786-153590833, 153590841-153590881, 153590917-153590946, 153591029-153591080, 153591145, 153592395-153592423, 153592529-153592533, 153592644-153592672, 153592703, 153592735, 153592894-153592931, 153592945-153592949, 153593003-153593018, 153593057-153593058, 153593062-153593079, 153593236, 153593254-153593290, 153593320-153593325, 153593504-153593541, 153593553-153593598, 153593606-153593627, 153593717-153593760, 153593770-153593779, 153593802, 153593807-153593825, 153593833, 153593843-153593848, 153594392-153594415, 153594438-153594476, 153594516, 153594520, 153594524, 153594578-153594592, 153594692-153594725, 153594751-153594762, 153594930-153594954, 153594983, 153595100-153595131, 153595144, 153595765-153595801, 153595812-153595814, 153595895-153595912, 153596026-153596047, 153596073-153596106, 153596224, 153596233-153596270, 153596282-153596309, 153596322, 153596451, 153596456-153596458, 153599241-153599517, 153599528-153599613
857EMDX0.49542483660131386765153607856-153607862, 153607896-153607926, 153608050-153608154, 153608314, 153608325-153608337, 153608594-153608601, 153608658-153608694, 153608711-153608715, 153609129-153609143, 153609368-153609476, 153609491-153609523, 153609536-153609557
858TAZX0.76552598225602185789153640181-153640229, 153640242-153640278, 153640423-153640467, 153640476-153640487, 153640513-153640551, 153641557, 153641562, 153641868
859GDI1X0.9947916666666771344153665626-153665629, 153665643, 153666883, 153668486
860G6PDX0.615384615384626301638153760231-153760305, 153760410-153760441, 153760601-153760617, 153760627-153760630, 153760669-153760677, 153760882-153760915, 153760933-153760940, 153760943, 153760993-153761010, 153761016, 153761168-153761191, 153761211-153761238, 153761245-153761291, 153761332-153761343, 153761791-153761824, 153761844-153761884, 153762250-153762251, 153762258-153762260, 153762294-153762339, 153762373-153762375, 153762554-153762567, 153762602-153762616, 153762653, 153762659-153762667, 153762674, 153762679-153762689, 153762694-153762700, 153763422-153763429, 153763487, 153763515, 153763533, 153764152-153764156, 153764182-153764218, 153764229-153764243, 153764356-153764357, 153774351, 153774366, 153775004-153775008, 153775030-153775085
861IKBKGX0.94603825136612791464153780252, 153780281-153780300, 153780329-153780331, 153780382-153780384, 153788732-153788768, 153792573-153792587
862IKBKGX0.9693251533742315489153868340-153868354
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
2.5FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
2.5FMO3-R492Whet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2ACY1-R353Chet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-R462Qhomozygous0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
2KEL-T193Mhet unknown0.032Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
2MTR-P749Shet unknown0.001Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), 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
1.5NOD2-P268Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5NOD2-R702Whet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.97 (probably damaging), Testable gene in GeneTests
1.5BLMH-I443Vhomozygous0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RSPH4A-R244Hhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), 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
1DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-S3765Phomozygous0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-D3144Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-N3099Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.662 (possibly damaging), 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-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-S1369Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-D644Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SIX5-P635Shomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CLECL1-S52Shifthomozygous0.008Unknown
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
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CEP290-K838Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF254-E21Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF254-D93Ghomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF254-K537Nhomozygous0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPHP1-P39Thomozygous0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP2B6-R487Chomozygous0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1KCNJ11-L270Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CSF2RB-P603Thomozygous0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FREM2-R1840Whomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1FREM2-R2066Chomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1FREM2-T2153Shomozygous0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IKBKAP-E312Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IKBKAP-S251Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZFYVE26-R2411HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
1ZFYVE26-T898Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AGL-G1115Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PINK1-A340Thet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TRPM1-V1560MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CROCC-A609Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-A760Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-R841Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-G845Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-LE1031RKhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-E1037Qhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
1CROCC-R1049HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HRNR-R664Qhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FLG-R3738Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FLG-Q3568Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-Y3105Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-D2936Ghet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-S2836Rhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-E2652Dhet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FLG-G2545Rhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-E2398Qhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-S2366Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-D2339Nhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-Y2194Hhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-K2192Qhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-H1961Qhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-A1805Vhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1699Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1376Ghet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1360Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-P478Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-T454Ahet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-G444Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-R644Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AMPD1-Q156Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALG2-V367Ahet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-S11Phet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-R219Khomozygous0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
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
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75RAI1-KE819RVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75RAI1-Q1035Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, 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
0.5GOSR2-P3Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GOSR2-R67Khet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC3-R1297Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-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)
0.5DHX58-N461Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-S12Ahet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-I7Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-F6Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-R4Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.24 (possibly damaging)
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COX10-V366Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH11-V1296Ahet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH11-R254Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PRRT2-P216Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEK2520LEREKAERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-M15Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
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-E432Dhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-T590Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (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
0.5MYH3-A1752Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-A1192Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-A1003Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign), Testable gene in GeneTests
0.5ZFP90-H114Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging)
0.5CDH16-H257Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5RPGRIP1L-D1264Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-L447Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-A961Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INSR-P269Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INSR-G262Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TBX4-A314Vhomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.5GP6-F606Lhet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-R573Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-P404Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GP6-K323Thomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-P314Ahet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.121 (benign)
0.5GP6-A249Thet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-E237Khet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GP6-P219Shomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-T64Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.827 (possibly damaging)
0.5ZNF530-H110Qhomozygous0.801Unknown
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)
0.5ZNF530-R315*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LILRA1-S153Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-L220Phet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-GE261WGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRA1-V387Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CACNG6-C252Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DMPK-T544Mhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM160-G120Shomozygous0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF274-V42Ihet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.562 (possibly damaging)
0.5ZNF274-Q45Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF544-Q700Rhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZNF544-R708Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DNAH6-V141Mhet unknown0.928Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-E717Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH6-G1694Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-V2898Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.931 (probably damaging)
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-A52Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MRPS5-R284Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5VWA3B-E372*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWA3B-L677Vhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-V885Mhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
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-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
0.5APLF-S224Thet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-L336Fhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-R510Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KLF11-Q62Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
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
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPHP4-E618Khet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-V190Mhet unknown0.041Unknown
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
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA10-R1322Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.906 (probably damaging)
0.5COG1-N392Shomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF532-E761Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HAUS5-Q580Rhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCGBP-P4788Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-P1436Lhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.325 (possibly damaging)
0.5FCGBP-N770Shet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRAMD1A-R448Whet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5RFXANK-E48Dhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADAMTS10-R62Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NWD1-A83Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NWD1-D342Nhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NWD1-D1406Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-T1315Ihomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thet unknown0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNB2-R606Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5CACNB2-D655Ehet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (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-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS38-A66Vhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5PRSS38-I224Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5KCNK1-R171Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZBED5-I480Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.494 (possibly damaging)
0.5RASSF10-Q302Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5TRIM22-R321Khet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5TACC2-E719Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5TACC2-W1103Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-V2197Ahet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-A2210Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TACC2-L2261Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-A2732Thet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
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
0.5PDCD11-V899Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5COL17A1-D1370Ghomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5KIAA1614-L64Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-R301Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1614-R740Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign)
0.5KIAA1614-L801Fhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-N1078Dhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL16A1-K398Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.958 (probably damaging)
0.5COL16A1-T62Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.5COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-T246Mhet unknown0.025Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (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
0.5CNKSR1-P284Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CNKSR1-P284Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OTUD3-A333Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RNF207-R539Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5RNF207-N573Shomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA21-K361KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPATA21-H305Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.881 (probably damaging)
0.5SPATA21-P119Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5LRRIQ3-A558Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5LRRIQ3-E434Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5LRRIQ3-M129Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.819 (possibly 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)
0.5SPAG17-K1747Ehet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5BNIPL-T3Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5CD244-G287Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FMO4-G372Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5VANGL1-A116Thomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DBT-S384Ghomozygous0.858Unknown
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
0.5AMY2B-G319Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GSTM4-K206Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GSTM4-L208Vhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GSTM4-RV211KMhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MERTK-R293Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RFX4-S698Ahet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GOLGA3-P264Lhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5GOLGA3-G70Ehet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SKA3-D335Ehet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5COX8C-P38Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5PCK2-R521Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-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
0.5MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5PLEKHG7-D99Ghet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLEKHG7-M212Thomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5ALX1-H61Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM123-V86Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5ACAT1-A5Phomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.5NPAT-N999Khet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NPAT-V575Ihomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RIN1-R238Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5RIN1-A79Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5YIF1A-P37Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5PEX16-V116Ihomozygous1.000Unknown
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
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-R176Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5IL10RA-R351Ghomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL10RA-S420Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DDIT3-E146Khet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5NAV3-V20Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5NAV3-T45Ahomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRK2-R50Hhomozygous0.964Unknown
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
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5PUS3-R53Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PUS3-A46Shomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PUS3-Y3Dhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-A141Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.850Unknown
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-P1823Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD52-S346*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CACNA2D4-D916Nhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.486 (possibly damaging), Testable gene in GeneTests
0.5CACNA2D4-I327Vhet unknown0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-N3621Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (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-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF175-I322Nhomozygous0.967Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF175-L307Fhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5RNF175-R292Chet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5RNF175-M159Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.395 (possibly damaging)
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACN9-F53Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5PRSS12-A606Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PRSS12-R55Thet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
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-K2484Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEATR7B2-D1529Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5HEATR7B2-L1179Phomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-F890Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5HEATR7B2-R526Hhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.947 (probably damaging)
0.5HEATR7B2-V496Ihomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-E468Vhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.025 (benign)
0.5HEATR7B2-W191Rhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-M11Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
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-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-W2624Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V3094Ihet unknown0.066Unknown
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-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
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5PION-D484Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5PION-H47Rhet unknown0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324L-V753Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5MOCS2-H123Yhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5OCLN-K504Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CP-T551Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.915 (probably damaging)
0.5CP-E544Dhomozygous0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5RP1-R872Hhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-A1670Thomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-S1691Phomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NBN-E185Qhomozygous0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TTBK1-P649Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.865 (probably damaging)
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARMC10-R29Whet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RELN-S630Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.65 (possibly damaging), Testable gene in GeneTests
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L8318Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
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-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-S358Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM38-R164*het unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TRIM38-I165Thet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HLA-H-G109Shomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIM15-S324Nhomozygous0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGER-G82Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5SLC22A16-V252Ahet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.5SLC22A16-H49Rhomozygous0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
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
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-DQB1-Q256Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q158Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A70Vhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CMAH-V478Ahomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-R310Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-N272Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CMAH-R241Whet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-I181Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-G131Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALDH5A1-A237Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS9-A427Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS9-A682Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
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
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I338Thet unknown0.038Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQCE-L666Vhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQCE-P686Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5IQCE-T690Mhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5UNC93A-V292Ihet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.236 (possibly damaging)
0.5UNC93A-Y387Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5UNC93A-M403Thet unknown0.590Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NQO2-L47Fhet unknown0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NQO2-G58Dhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MRS2-P412Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRM6-A807Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5GRM6-M712Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-P1139Rhomozygous0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLG-D472Nhomozygous0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LIMK2-G35Shet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LIMK2-R213Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SEC23B-V426Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEC23B-P433Lhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.686 (possibly damaging)
0.5PIGT-D257Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (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
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-S1036*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-R408Hhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-H451Rhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMC2-R123Khomozygous0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMC2-W217Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-P155Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-R1045Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-G1022Ehet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL6A1-R850Hhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC5A3-T50Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC5A3-V370Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SLC5A3-Q566Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A7-I215Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5SETX-S2612Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-A660Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.422Unknown
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-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
0.5OPN1LW-L153Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5DL492456-R148Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-W104*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ITIH5L-W1041Shet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5TTN-Q33090Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E32484Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R30789Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R30395Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I29477Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V28135Mhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R21422Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihomozygous0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhomozygous0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I8474Thet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R8194Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P7650Lhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A5710Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S5190Nhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V4191Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P3751Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R3598Khet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R3367Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K3154Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S2831Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-M2610Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G2392Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-Y2300Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R1572Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
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-K2366Qhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), 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-D882Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNS1-R1004Whomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-T528Ihet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-V25Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NYX-L53Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NYX-VSRFSSLLSKL410LEQVQQPPLQAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-A698Thet unknown0.211Unknown
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
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5IFNK-W13Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IFNK-K133Ehomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5CER1-V179Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging)
0.5CER1-A65Ghomozygous0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KAT2B-R653Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
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-R1999Whomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5BSPRY-Q293Hhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.292 (possibly damaging)
0.5MFNG-R302Chet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5DEPDC5-F685Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5DEPDC5-M1111Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.375FKTN-T433Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.375VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VCAN-D2546Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.375TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-E1404Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RHBG-G76Dhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RHBG-D425Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BIN3-LAK155RPQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BIN3-K148Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MRPL18-R6Qhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.25MRPL18-L10Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MRPL18-L58Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F8-D1260Ehet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FIG4-V654Ahet unknown0.331Unknown
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
0.25HTR2C-C23Shet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCB1-R157Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RBMXL1-V352Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-P301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RBMXL1-L296Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-D233Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-L170Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-G115Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-A111Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-G110Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-F109Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-A78Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-G71Ahet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DQ580909-S171*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DQ580909-D196GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM75D5-K40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM75D5-H96Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.25CYP3A7-R409Thet unknown0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25OPN4-A135Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OPN4-T405Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BMPR1A-P2Thet unknown0.393Unknown
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
0.25PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), 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
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25KIAA0649-N834Dhomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA0649-R940*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LAMC3-P174Hhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-C290Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LAMC3-P522Shet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-R770Ghomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-S1082Ghomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), 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
0.25CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-V1672Ihet unknown0.139Unknown
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
0.25LRRC6-R342*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LRRC6-T232Ihomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25SLC22A18-A107Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC22A18-SS110PGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP11B2-K173Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBX8-L320Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CBX8-G317Vhet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL17RC-S182Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.25IL17RC-G667Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MLC1-C171Fhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.25CYP2D6-T486Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CYP2D7P1-K320Ehomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-H290Rhomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-L141Phomozygous0.397Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-V137Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CYP2D7P1-L123Shet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D7P1-E121Shifthet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP2D7P1-F30Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SDK2-L1545Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SDK2-S1083Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNJ12-S15Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.25KCNJ12-N29Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCNJ12-V36Lhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNJ12-E56Ahet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KCNJ12-S343Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.041 (benign)
0.25KCNJ12-E430Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.25PLD1-A622Shet unknown0.179Unknown
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
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT10-G130GGFGGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-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
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25C17orf57-R211*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C17orf57-V312Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMAN1-R14Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.058 (benign), Testable gene in GeneTests
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OTOF-P1646Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPEG-P2189Lhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPEG-R2790Ghet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPEG-T2881Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPEG-GH3078SRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF358-N32Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF358-S425Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC16-V14466Lhomozygous0.926Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-Q13957Khomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V13167Mhomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S12514Thomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S11585Rhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-G11455Dhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-A11199Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S11154Fhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S11104Nhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P10828Shet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-R10574Hhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T10489TTTALKTThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-F10169Lhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-E10153Qhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-L10013Phomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I9920Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V9909Ihet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-Y9899Fhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-D9850Ehet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P9608Shet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-A9502Thet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-Q9405Rhet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I9213Thomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-D9129Ehet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-A9121Thet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V8969Mhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-N8684Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC16-D8344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-N8301Thomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T7063Ahet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P6858Thet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-H6152Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-S5885Fhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-F5852Vhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I5751Thomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-H5741Dhomozygous0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P5682Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P5537Shomozygous0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-N5228Ihomozygous0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T5177Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-T4394Ihet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I4034Fhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S3190Thet unknown0.571Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T2891Ihet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P2881Shet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-M2786Ihet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T2506Ahomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T2271Ahet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S2058Phet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-Y1898Dhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S1891Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-L1833Fhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-K1400Nhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-H1353Yhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-K1266Nhomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T1162Ihet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-R1015Ghet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C21orf96-Y63Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C21orf96-A6Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
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
0.25COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSPY26P-V291Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TSPY26P-P246Hhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25TPTE-G549Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TPTE-Y482Shet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TPTE-L470Phomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TPTE-K386Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TPTE-R280*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TPTE-R222Whet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.25SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GLI2-A1156Shet unknown0.626Unknown
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
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25GLIPR1L2-C95Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLIPR1L2-D239DNhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM90A1-T348Ihomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM90A1-P342Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25APOBEC1-M80Ihet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25APOBEC1-W21*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-T67Rhet unknown0.905Unknown
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)
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25B4GALNT1-A516Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25B4GALNT1-L89Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25B4GALNT1-L35Vhet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S408Ahet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BAG6-S619PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BAG6-T391Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25FAM55B-N351Ihet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF423-Y339*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF423-FS272IGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANK2-P2835Shet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G2257Dhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-S2207Thet unknown0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Thet unknown0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1665Yhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1268Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G785Chet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R636Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V183Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (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-W511Rhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25HEXB-L62Shet unknown0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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)
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0FUT6-R303Ghet unknown0.074Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.725 (possibly damaging)
0ACAD8-S171Chet unknown0.018Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0COL1A1-P928Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0TGM1-E520Ghet unknown0.006Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.987 (probably damaging), Testable gene in GeneTests with associated GeneReview
0ITPA-P32Thet unknown0.061Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0STXBP2-H151Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,697,285,551 bases (95.2% of callable positions, 89.2% of total positions)

Coding region coverage: 30,347,995 bases (91.4% of all genes, 92.7% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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