hu14ECAE - GET-Evidence variant report

Variant report for hu14ECAE

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
2rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
3MTRR-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
4MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
5APOA5-S19WLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0646151This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.1
6TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
7ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
8TP53-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
9SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
10WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
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
11CPN1-G178DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0356014This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function.1
12H6PD-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
13DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Heterozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
14ITPA-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
15ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
16NPC1-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
17KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
18LPL-S474XLowUncertainUncertain protective

Unknown, Heterozygous
0.0844953This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.1
19MSH6-V878ALowLikelyLikely benign

Unknown, Heterozygous
0.00576315In a screen of 288 individuals suspected of having HNPCC, Wu et al. 2001 found this variant in one individual who also had a rare MLH3 variant. The publication was mainly investigating a role for MLH3 (and not this gene), and merely refers to this variant as a MSH6 (without additional evidence). These observations match the variant's general allele frequency: over 1% of individuals are carriers. Although this has been listed in Clinvar as pathogenic, if it caused this disease with high penetrance it would be extremely well-established (since the variant is relatively common). Since this is not the case, that hypothesis is effectively disproven.1
20CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
21NEFL-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
22OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
23MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
24RPGRIP1-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
25TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
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
26PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
27FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
28F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
29APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
30PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
31SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
32TAS2R38-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
33SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
34TXNDC3-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
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30729135 / 33282720 = 92.33%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.07673509286412556676138955553-955753, 957581-957842, 970657-970704, 976045-976260, 976553-976777, 976858-977001, 977020-977063, 977075-977082, 977336-977394, 977401-977542, 978619-978837, 978918-979112, 979203-979403, 979489-979637, 979714-979716, 979734, 979740-979743, 979759-979819, 980541-980573, 980590-980609, 980617-980620, 980625, 980641, 980648-980657, 980746-980770, 980798-980829, 980849-980903, 981113-981125, 981141-981256, 981344-981456, 981540-981632, 981640-981645, 981777-982115, 982200-982253, 982264-982337, 982708-982818, 982834, 982953-982954, 982957-983033, 983043, 983056-983067, 983156-983275, 983392-983437, 983441-983455, 983465-983745, 984247-984366, 984379, 984396-984439, 984616-984818, 984826-984831, 984946-985029, 985044-985055, 985058-985069, 985080, 985090-985175, 985295-985417, 985613-985633, 985640-985709, 985807-985919, 985950-985971, 986106-986217, 986633-986749, 986833-987025, 987108-987195, 989133, 989136-989153, 989158-989161, 989180-989246, 989261-989325, 989351-989357, 989828-989874, 989889-989923, 990204-990361
2GABRD10.37380426784485113591950863-1950930, 1956381-1956392, 1956414-1956421, 1956432, 1956444-1956479, 1956773-1956777, 1956822-1956826, 1956979-1957092, 1957113-1957177, 1959016-1959019, 1959034-1959073, 1959594-1959595, 1959604, 1959623-1959625, 1959669-1959672, 1959685-1959686, 1959689, 1959699-1959720, 1960550-1960640, 1960652, 1960673-1960705, 1960990-1961019, 1961038-1961052, 1961071-1961111, 1961119-1961125, 1961142-1961201, 1961422-1961551, 1961564, 1961589, 1961598-1961599, 1961604, 1961627-1961655, 1961706-1961721
3PEX1010.637104994903163569812337205-2337210, 2337265-2337273, 2337923-2337937, 2337955-2337983, 2337991-2338001, 2338159-2338162, 2338168-2338183, 2338256, 2338260-2338262, 2338266-2338272, 2338302-2338309, 2338324-2338329, 2339944, 2339947, 2339962-2339970, 2339974-2340021, 2340061-2340065, 2340079-2340082, 2340116, 2340147-2340156, 2340162-2340166, 2340176, 2340182-2340184, 2340195, 2340200, 2340229-2340231, 2340235-2340240, 2340268-2340297, 2343830-2343941
4NPHP410.9131044148563437242815923964-5923984, 5924410, 5924417, 5924443, 5924452, 5924456, 5924571, 5935047, 5935066-5935069, 5947369-5947370, 5947375-5947379, 5947454-5947462, 5947497-5947526, 5950969-5950972, 5950985, 6027366-6027407, 6029160-6029172, 6029200, 6029287, 6038330-6038473, 6046215-6046239, 6046252, 6046263-6046291, 6046296-6046307, 6046318-6046320, 6046331-6046348
5ESPN10.48810916179337131325656485016-6485309, 6488293-6488346, 6488374-6488413, 6488428-6488437, 6488449-6488469, 6500319, 6500328-6500330, 6500352-6500375, 6500385-6500455, 6500461-6500489, 6500686-6500812, 6500836-6500867, 6500994-6500997, 6501007-6501013, 6501023-6501025, 6501036, 6501044, 6501054-6501055, 6501057, 6501067-6501073, 6501085-6501087, 6501100-6501103, 6501111, 6501115-6501124, 6505726-6505757, 6505813-6505940, 6508730-6508758, 6508789-6508802, 6508843-6508854, 6508859-6508872, 6508876, 6508885, 6508893, 6508922-6508941, 6508968-6508983, 6509022-6509024, 6509030, 6509100-6509106, 6511709-6511738, 6511763-6511799, 6511896-6511935, 6511944-6511992, 6512045-6512047, 6512050-6512053, 6512065-6512074, 6512110-6512148, 6517286-6517292, 6520064, 6520067, 6520070, 6520102-6520140, 6520171, 6520185-6520206
6PLEKHG510.39448102853559193131896527630, 6527885-6527917, 6527961-6528076, 6528091-6528099, 6528109-6528160, 6528173, 6528183, 6528187-6528264, 6528278, 6528281, 6528291, 6528294, 6528318-6528360, 6528392-6528404, 6528470-6528490, 6528517-6528596, 6528621-6528643, 6528646, 6529115-6529133, 6529172-6529223, 6529236-6529268, 6529395-6529423, 6529431-6529471, 6529604-6529622, 6529681-6529700, 6529710-6529721, 6529725-6529736, 6530296-6530321, 6530335-6530337, 6530341-6530344, 6530347-6530356, 6530363, 6530566-6530593, 6530618, 6530624-6530647, 6530658, 6530661, 6530674-6530687, 6530799-6530853, 6530870, 6530900-6530944, 6531050-6531056, 6531081, 6531084-6531160, 6531548, 6531561-6531680, 6531689-6531697, 6531833-6531868, 6532595-6532642, 6532656-6532662, 6532666, 6533065-6533110, 6533144-6533145, 6533160-6533212, 6533331-6533332, 6533340-6533389, 6533402-6533429, 6533493-6533514, 6534074-6534124, 6534130-6534143, 6534172-6534205, 6534511-6534557, 6534568-6534597, 6534626-6534647, 6535107-6535117, 6535125-6535131, 6535134-6535141, 6535144-6535150, 6535181-6535198, 6535552-6535554, 6535558, 6535999-6536054, 6536091-6536096, 6537590-6537591, 6537597, 6537617-6537645, 6537653-6537718, 6556553-6556629, 6557380-6557383
7PEX1410.62081128747795430113410683159-10683171, 10684418-10684419, 10684425-10684494, 10687359-10687381, 10687415, 10689604-10689645, 10689669-10689750, 10689762-10689768, 10689807-10689818, 10689853-10689929, 10689944-10690044
8TARDBP10.9317269076305285124511082258-11082298, 11082339-11082362, 11082519-11082538
9MASP210.70014556040757618206111090841, 11094885-11094894, 11094935, 11097776-11097814, 11102949-11103019, 11103396-11103571, 11103581-11103592, 11105465-11105527, 11105538-11105540, 11105549-11105555, 11106620-11106650, 11106666, 11106678, 11106763, 11106770-11106775, 11106778-11106782, 11106785, 11106948-11107017, 11107029-11107035, 11107040, 11107065-11107108, 11107115-11107176, 11107260-11107264
10MTHFR10.9827498731608334197111853982-11853999, 11854132-11854134, 11855259-11855269, 11861394, 11863018
11PLOD110.67948717948718700218411994837-11994860, 11994868-11994885, 12008033-12008052, 12009921, 12010495-12010499, 12012731, 12012734, 12014887-12014892, 12014921, 12014927, 12017071, 12017986, 12017990, 12018587-12018610, 12018678, 12020718-12020726, 12020757-12020758, 12020763, 12020796-12020802, 12020822, 12023597, 12023625, 12023628-12023636, 12023639, 12023671-12023680, 12024232-12024247, 12024252, 12024278-12024320, 12024325-12024329, 12024334-12024336, 12024339-12024340, 12024351-12024357, 12024701-12024749, 12024767, 12024774-12024789, 12024822-12024842, 12025537-12025545, 12025551-12025555, 12025577-12025612, 12025628-12025634, 12026308-12026373, 12027052-12027058, 12027088, 12027094, 12027100-12027102, 12027140-12027148, 12030727-12030873, 12032929, 12032972, 12032980, 12033008-12033018, 12034715, 12034733-12034808, 12034839, 12034851-12034855
12MFN210.9929639401934916227412049395-12049399, 12065906-12065907, 12065912-12065915, 12065980-12065982, 12065987-12065988
13CLCNKA10.53972868217054950206416350342-16350344, 16350350-16350352, 16350357, 16351266-16351281, 16351319, 16351362-16351383, 16352674, 16352677, 16353244, 16353820, 16353824-16353827, 16353830-16353834, 16353871-16353917, 16354362-16354397, 16354513-16354515, 16354527, 16354564-16354582, 16354590-16354614, 16355256-16355283, 16355291, 16355294, 16355308-16355332, 16355621-16355644, 16355650-16355683, 16355705-16355740, 16355781-16355783, 16355789-16355794, 16356259, 16356262, 16356268-16356293, 16356487-16356489, 16356495-16356570, 16356956-16357023, 16357030-16357130, 16357139-16357169, 16358216, 16358240-16358314, 16358320-16358338, 16358698-16358744, 16358751-16358786, 16358938-16358951, 16358959-16358994, 16359010, 16359667-16359699, 16359707-16359710, 16359729, 16360106-16360116, 16360137-16360153
14CLCNKB10.70639534883721606206416371002-16371035, 16371052-16371087, 16372053-16372072, 16372094-16372096, 16372099-16372100, 16372110-16372113, 16372130, 16372164-16372170, 16373030-16373050, 16373124, 16374420, 16374430, 16374434, 16374438, 16374441, 16374463, 16374533, 16374851, 16375031-16375033, 16375038-16375053, 16375056-16375064, 16376142, 16376407-16376409, 16377023, 16377027, 16377043, 16377047, 16377079-16377084, 16377088, 16377370-16377383, 16377419-16377447, 16377459-16377492, 16377978-16377992, 16378009, 16378012, 16378015-16378020, 16378025, 16378205-16378238, 16378307-16378315, 16378693-16378713, 16378730-16378782, 16378792, 16378796-16378801, 16378807-16378812, 16378884-16378906, 16380173, 16380189-16380215, 16380222-16380226, 16380243-16380244, 16380252-16380267, 16381930-16381943, 16381972-16382018, 16382170-16382185, 16382222-16382231, 16382237-16382253, 16382961, 16383396-16383411
15ATP13A210.82895850973751606354317312743, 17312752-17312763, 17312767-17312776, 17312803-17312841, 17312992, 17312997, 17313000-17313003, 17313008, 17313090-17313091, 17313099-17313100, 17313302-17313307, 17313343, 17313377-17313390, 17313397-17313400, 17313587-17313595, 17313604-17313608, 17313618-17313629, 17313646, 17313654, 17313656-17313675, 17313689-17313698, 17313715, 17314704-17314729, 17314907, 17314932-17314934, 17314942, 17314945-17314950, 17316386-17316392, 17318609-17318624, 17318841-17318856, 17319011, 17320124-17320125, 17320168-17320173, 17320273-17320279, 17320311-17320330, 17322471-17322494, 17322536, 17322573-17322618, 17322632, 17322790-17322795, 17322881-17322898, 17322908-17322926, 17322952-17322953, 17322964-17322991, 17323549-17323600, 17323616, 17323624, 17323627-17323637, 17326506-17326529, 17326541-17326566, 17326750-17326792, 17327017, 17328539-17328552, 17331227-17331233, 17332046-17332047, 17338224-17338233
16ALPL10.9923809523809512157521889661-21889664, 21890544-21890551
17HSPG210.929568913175479281317622149835, 22149838-22149849, 22149897-22149901, 22149928-22149954, 22150199-22150202, 22150662-22150669, 22150829-22150838, 22151030-22151061, 22151267-22151271, 22154356-22154358, 22154529-22154535, 22154568-22154604, 22155398, 22155466-22155473, 22155502-22155520, 22155883-22155889, 22155918-22155930, 22155937, 22155955-22155958, 22155982-22156006, 22165460-22165463, 22167605-22167607, 22167653-22167657, 22167757-22167778, 22168101-22168130, 22168842-22168856, 22169289-22169293, 22170754-22170792, 22172729-22172748, 22172957, 22174515-22174521, 22175193-22175198, 22175284, 22175516-22175524, 22176933-22176961, 22178155, 22178189, 22179535-22179536, 22181410-22181428, 22181445, 22182034-22182038, 22186059-22186066, 22186338-22186341, 22186384-22186393, 22186417-22186421, 22186451-22186461, 22190688, 22191394-22191398, 22191447-22191460, 22192213, 22192241-22192248, 22198840-22198852, 22199113-22199114, 22199156-22199157, 22199159-22199164, 22199208-22199228, 22199490-22199528, 22200899-22200923, 22200960-22200978, 22200984-22200985, 22200989, 22200994, 22202148-22202152, 22203007-22203009, 22206613, 22206699-22206715, 22206878-22206880, 22207021, 22207171-22207175, 22207250-22207290, 22207865, 22207917, 22211087-22211106, 22211163-22211167, 22211266-22211272, 22211285, 22211409-22211411, 22211603, 22211829, 22211874-22211885, 22211916-22211932, 22213708-22213721, 22213965-22213967, 22214018, 22214110, 22214114-22214115, 22214126-22214127, 22214458-22214486, 22216620, 22216930-22216932, 22216957, 22216960-22216965, 22217078-22217082, 22263648-22263710
18WNT410.83522727272727174105622456117-22456121, 22456148, 22456151, 22456153-22456179, 22456221-22456264, 22456321, 22456327-22456344, 22469339-22469415
19HMGCL10.969325153374233097824134720-24134721, 24134755-24134777, 24151873, 24151889, 24151900-24151902
20FUCA110.9685938615274844140124186345-24186347, 24186354, 24189723, 24194453-24194472, 24194508, 24194511, 24194679, 24194718-24194720, 24194727-24194732, 24194737-24194742, 24194773
21LDLRAP110.928802588996766692725870217-25870277, 25889632, 25889635-25889637, 25893430
22SEPN110.87410071942446210166826126722-26126904, 26136176, 26136290-26136303, 26139251-26139262
23KCNQ410.85153256704981310208841249766-41249979, 41249993-41250073, 41250076-41250079, 41284253-41284257, 41284306-41284309, 41284314, 41296972
24CLDN1910.99111111111111667543201557-43201562
25LEPRE110.9701492537313466221143212390-43212396, 43212402-43212403, 43213952, 43213956-43213969, 43215922-43215929, 43215947, 43215990-43216007, 43218230, 43232402-43232409, 43232498-43232499, 43232602-43232605
26SLC2A110.9905341446923614147943424305-43424318
27MUTYH10.99936265137031156945797193
28MMACHC10.99882214369847184945974831
29STIL10.999741401603311386747767947
30DHCR2410.9909735654416514155155352762-55352775
31BSND10.99896157840083196355464860
32PCSK910.94083694083694123207955505520-55505531, 55505553-55505555, 55505668, 55505705-55505709, 55509666-55509682, 55512284-55512314, 55518038, 55521693-55521699, 55521728-55521731, 55521735, 55521738, 55521743, 55521754-55521757, 55521829-55521851, 55524221, 55524232-55524235, 55524237, 55524259, 55524277, 55524289-55524292
33CTH10.99917898193761121870895510
34ABCA410.99970683084142682294528169-94528170
35COL11A110.99376947040498345457103363700, 103364236-103364268
36GSTM110.53120243531202308657110230496-110230531, 110230792-110230797, 110230854, 110230867, 110231295-110231316, 110231353, 110231688-110231694, 110231714, 110231721-110231728, 110231749-110231750, 110231854-110231947, 110232923-110232948, 110232959-110232988, 110233076-110233143, 110233155, 110233159-110233161, 110233173
37VANGL110.9980952380952431575116226649, 116228057-116228058
38NOTCH210.98705501618123967416120539665-120539714, 120539778-120539784, 120539913-120539939, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572
39PRPF310.98879142300195232052150307614-150307615, 150307618-150307623, 150312944, 150315906, 150315919-150315928, 150318575, 150318581, 150325396
40FLG10.9679960610536739012186152276487-152276493, 152277432, 152278431-152278437, 152279378-152279410, 152280151-152280152, 152280358-152280381, 152280601, 152280608, 152280614, 152281122-152281123, 152281322, 152281350-152281356, 152281953-152281954, 152282093, 152282097-152282105, 152282114, 152282258-152282261, 152282271, 152282286-152282287, 152282293, 152282871-152282877, 152283131, 152283198, 152283233-152283275, 152283502-152283536, 152284004-152284051, 152284239, 152284500-152284527, 152285053-152285055, 152285209-152285255, 152285292-152285294, 152285302, 152285575, 152286026-152286032, 152286126-152286137, 152286144-152286182, 152286191-152286193, 152286329, 152286465
41CHRNB210.9688535453943471509154543955-154543959, 154544174-154544175, 154544178, 154544342-154544373, 154544397, 154544407-154544412
42GBA10.9991645781119511197155184416
43PKLR10.98550724637681251725155269907, 155269913, 155269973-155269984, 155269987-155269992, 155270038-155270042
44LMNA10.9594356261022923567156104997-156105004, 156105045, 156105903-156105912, 156106155-156106158
45LMNA10.97092731829574581995156084739-156084744, 156084995-156084997, 156104319, 156104744-156104745, 156104997-156105004, 156105045, 156105903-156105912, 156106155-156106158, 156107533-156107534, 156108299, 156108316, 156108325-156108343
46NTRK110.9715600167294682391156830740-156830742, 156830747, 156830756-156830759, 156830792, 156834167, 156843441-156843477, 156843615-156843625, 156843663-156843668, 156846212-156846215
47NDUFS210.999281609195411392161176290
48F510.9923595505618516675169510269-169510275, 169510337-169510343, 169510377-169510383, 169510475, 169510499-169510527
49DARS210.9989680082559321938173807396-173807397
50RNASEL10.9995507637017112226182555105
51CFH10.9997294372294413696196712596
52CFHR110.990936555891249993196797204, 196797214, 196797238, 196797244, 196797292, 196799637, 196799679, 196801005, 196801023
53CACNA1S10.98648167911775765622201081316-201081323, 201081366-201081433
54PKP110.99495644199908112181201282643-201282653
55LAMB310.9980107985223173519209791804-209791810
56PSEN210.997772828507831347227071444, 227071525, 227071569
57ADCK310.97942386831276401944227152913, 227152916-227152928, 227153428-227153429, 227169804-227169805, 227169840-227169849, 227171796-227171807
58GJC210.07272727272727312241320228345460-228345462, 228345474-228345531, 228345567-228345584, 228345589-228345606, 228345611-228345653, 228345656-228345691, 228345705-228345765, 228345770-228345788, 228345792-228345824, 228345838-228346489, 228346497-228346779
59ACTA110.907407407407411051134229567561-229567564, 229567843, 229567846, 229567905, 229567920, 229567927-229567932, 229568018-229568026, 229568037, 229568050-229568101, 229568116, 229568120, 229568126-229568129, 229568160-229568166, 229568170-229568178, 229568327-229568330, 229568345, 229568356-229568357
60GNPAT10.998531571218832043231402136-231402138
61RYR210.99966451959206514904237729971-237729972, 237982450-237982452
62IL2RA100.96459096459096298196060061, 6063442-6063463, 6063572, 6063614-6063618
63GATA3100.99700374531835413358100743-8100746
64PTF1A100.6899696048632230698723481460, 23481513-23481543, 23481578-23481600, 23481652-23481653, 23481656-23481667, 23481695-23481730, 23481737-23481786, 23481808-23481878, 23481894-23481910, 23481916-23481918, 23481932-23481952, 23481975-23481979, 23481991-23481992, 23482010, 23482093-23482121, 23482154, 23482170
65PDSS1100.999198717948721124826986669
66RET100.90642750373692313334543572707-43572775, 43595937-43595938, 43595957-43595968, 43596001-43596002, 43596039-43596051, 43596143, 43597849, 43597852, 43597856, 43597914, 43598003-43598005, 43598033-43598062, 43600400-43600404, 43600442, 43600565-43600608, 43600624-43600641, 43601898-43601899, 43601912, 43601926, 43604490-43604496, 43606672, 43606687, 43606851-43606861, 43609932-43609957, 43610119, 43610147, 43614979, 43614983, 43614991, 43615018, 43615021-43615024, 43615027-43615028, 43615062-43615065, 43615145-43615178, 43619119-43619122, 43619239-43619243
67CHAT100.9853137516688933224750822354-50822375, 50822414-50822417, 50857576-50857582
68PCDH15100.999320767532694588955973696-55973699
69NODAL100.999042145593871104472201407
70SLC29A3100.995798319327736142873082560-73082563, 73082706-73082707
71CDH23100.967084327764523311005673439193-73439205, 73442256-73442257, 73455220, 73455273, 73461779-73461792, 73461887, 73461967-73461968, 73462306-73462314, 73462363-73462373, 73462400-73462429, 73462440-73462451, 73464748-73464781, 73464795-73464797, 73464807-73464810, 73464868-73464887, 73466712-73466714, 73466788-73466789, 73466796-73466798, 73468914-73468943, 73472506-73472509, 73472559, 73490322-73490324, 73490330-73490332, 73492127-73492132, 73494092, 73494095, 73494098, 73500668, 73500675, 73501466, 73501487, 73501565-73501578, 73501584, 73501587, 73501620-73501625, 73501628-73501633, 73501637-73501640, 73501648, 73501666, 73537484-73537509, 73537540-73537552, 73537556-73537563, 73537568-73537569, 73537595, 73537946-73537947, 73550111-73550127, 73571156-73571158, 73572560-73572565
72PSAP100.9866666666666721157573579570-73579590
73RPS24100.99195402298851787079795367-79795373
74LDB3100.9867216117216129218488441513-88441520, 88466338, 88466347-88466352, 88476170-88476171, 88476214, 88476475-88476485
75BMPR1A100.998123827392123159988683474-88683476
76GLUD1100.995825879546817167788854401-88854402, 88854450-88854454
77PLCE1100.999855261253441690996005994
78HPS1100.939696106362771272106100177326-100177429, 100177942-100177954, 100178005-100178014
79CPN1100.98910675381264151377101802206-101802220
80C10orf2100.97372262773723542055102748120-102748126, 102749414-102749424, 102749456-102749469, 102749495-102749503, 102750244-102750255, 102750258
81FBXW4100.96933010492333381239103371141-103371145, 103371157, 103371452-103371464, 103371498, 103372172, 103454301-103454306, 103454318-103454325, 103454358-103454360
82HPS6100.99570446735395102328103825404-103825412, 103825483
83SUFU100.99037800687285141455104352418, 104357036-104357042, 104359224-104359229
84CYP17A1100.98231827111984271527104590459-104590461, 104590573-104590582, 104590695-104590696, 104592295, 104592795-104592797, 104592800-104592805, 104595102, 104596860
85COL17A1100.9971072541166134494105816897-105816909
86EMX2100.989459815546778759119302946-119302953
87BAG3100.98842592592593201728121411201-121411205, 121411212, 121411341-121411354
88HTRA1100.831600831600832431443124221169-124221264, 124221304-124221317, 124221328-124221329, 124221332-124221333, 124221344-124221396, 124221411-124221418, 124221467-124221517, 124266221-124266233, 124266350-124266353
89ACADSB100.9992301770592811299124768547
90OAT100.9992424242424211320126086516
91UROS100.988721804511289798127477437-127477445
92HRAS110.45087719298246313570532636-532666, 532669-532676, 532707-532755, 533453-533494, 533500-533511, 533538-533576, 533766-533767, 533784, 533812-533858, 533861, 533937, 534212-534228, 534239-534250, 534262-534310, 534320-534321
93TALDO1110.703155818540433011014747482-747518, 747527-747578, 755981, 755984, 760175-760191, 763344-763456, 763475, 763813-763814, 763829, 763839-763840, 763845-763853, 763891-763944, 764335-764345
94SLC25A22110.32098765432099660972791915-791959, 792004-792037, 792051-792068, 792142-792154, 792189-792217, 792304-792458, 792559-792727, 792870-792952, 792967-792988, 793529-793556, 793563, 793583-793585, 794458, 794463-794466, 794776-794794, 794799, 794824, 794865, 794880, 794884, 794891-794901, 794987-795006
95PNPLA2110.49504950495057651515819719-819752, 819760-819905, 821670, 821678, 821682-821694, 821714-821742, 821958-821963, 821987-822019, 822444, 822481-822483, 822501-822502, 822505, 822571-822598, 823576-823587, 823694-823697, 823704-823716, 823727, 823742-823743, 823746-823751, 823786-823798, 823809-823852, 823998-824011, 824019, 824034-824038, 824043, 824068-824069, 824072-824073, 824089-824130, 824314-824341, 824354-824374, 824393-824397, 824409-824411, 824417-824436, 824523-824565, 824590-824594, 824598-824600, 824618, 824628-824703, 824726, 824729, 824732-824736, 824740, 824762-824806, 824816-824862
96CTSD110.2235673930589296212391774733-1774787, 1774806, 1774809-1774810, 1774834, 1774848-1774900, 1775033-1775104, 1775117-1775131, 1775224-1775368, 1776143-1776147, 1776211-1776218, 1776242-1776258, 1778554-1778703, 1778724-1778733, 1778758-1778766, 1778770-1778786, 1780199-1780207, 1780230-1780247, 1780257-1780304, 1780746-1780827, 1780837-1780869, 1782539-1782673, 1782683-1782698, 1785022-1785069, 1785077-1785089
97TNNI2110.766848816029141285491861635-1861664, 1861758-1861763, 1861774, 1861790-1861797, 1861844-1861858, 1862051-1862073, 1862087-1862089, 1862261-1862266, 1862321-1862327, 1862344-1862348, 1862370, 1862380-1862387, 1862425-1862437, 1862709, 1862712
98TNNT3110.258687258687265767771944118-1944119, 1944787-1944802, 1946329-1946336, 1946342-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953727, 1953731, 1954951-1955067, 1955161-1955168, 1955174-1955238, 1955562-1955675, 1955797-1955800, 1955813-1955885, 1956059-1956071, 1956076-1956078, 1956108, 1956128-1956149, 1958193-1958206, 1958218, 1958221, 1959668-1959716
99H19110.8870214752567712110712017748-2017787, 2017801, 2017828-2017849, 2017948-2017957, 2017989-2018027, 2018078-2018081, 2018336, 2018353, 2018361-2018363
100IGF2110.0351617440225036867112154217-2154453, 2154747-2154871, 2154886-2154895, 2156597-2156759, 2161365-2161515
101TH110.07047619047619146415752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189373, 2189390-2189409, 2189721-2189883, 2189893-2189895, 2190880-2190946, 2190967-2191101, 2191920-2192000, 2192927-2192949, 2192982
102KCNQ1110.7818808468734644320312466329-2466434, 2466442-2466714, 2593255-2593311, 2593338, 2594187-2594190, 2790102, 2869216
103CDKN1C110.0262881177707689269512905234-2905273, 2905279, 2905300-2905364, 2905900-2906719
104HBD110.9842342342342374445255652-5255658
105SMPD1110.993670886075951218966411936-6411947
106SBF2110.99873873873874755509868508-9868514
107ABCC8110.9900969237252447474617498266-17498308, 17498320-17498323
108USH1C110.999629629629631270017565840
109WT1110.91763191763192128155432449519, 32456371, 32456590-32456598, 32456615-32456662, 32456678-32456690, 32456697-32456747, 32456752-32456754, 32456760, 32456763
110ALX4110.996763754045314123644286712-44286715
111SLC35C1110.9857954545454515105645827465, 45827825-45827826, 45827829, 45832500-45832506, 45832567-45832568, 45832825-45832826
112PEX16110.51777137367915502104145931640-45931669, 45931673-45931675, 45931679, 45931687-45931690, 45931718-45931728, 45932449-45932503, 45935403-45935442, 45935682-45935689, 45935719-45935741, 45935867-45935875, 45935902-45935995, 45936155-45936162, 45937071-45937114, 45937254-45937256, 45937267-45937270, 45937299-45937312, 45937354-45937387, 45937803-45937820, 45939009-45939023, 45939026-45939031, 45939253-45939301, 45939334-45939362
113F2110.9925093632958814186946747467, 46747481, 46747484-46747486, 46747497-46747499, 46748057-46748062
114MYBPC3110.85045751633987572382547355145-47355147, 47357519-47357520, 47364204, 47367825-47367834, 47367848-47367874, 47367893, 47367920-47367921, 47368178-47368195, 47368981-47369002, 47369210-47369231, 47369408-47369411, 47369432-47369450, 47370004-47370023, 47370041-47370042, 47370047-47370092, 47371325-47371347, 47371398-47371445, 47371565-47371663, 47372053-47372063, 47372105-47372166, 47372790-47372807, 47372831-47372833, 47372861, 47372872-47372884, 47372933-47372944, 47372971-47373033, 47373056, 47374180-47374198
115SLC39A13110.86111111111111155111647431763-47431764, 47431819-47431826, 47431842, 47433916-47433918, 47434966-47434999, 47435005-47435017, 47435237, 47435996-47436016, 47436328-47436331, 47436398-47436444, 47436596-47436611, 47436693-47436696, 47436871
116RAPSN110.73123486682809333123947459526-47459570, 47459581-47459590, 47460283-47460292, 47460306, 47460317-47460347, 47460369-47460416, 47460440-47460450, 47462762-47462763, 47463177-47463178, 47463238-47463268, 47463403-47463405, 47463408-47463409, 47463427-47463457, 47463465-47463473, 47464241-47464296, 47469536, 47469541, 47469550, 47469573-47469574, 47469592-47469594, 47469671, 47470325-47470330, 47470412-47470415, 47470429-47470430, 47470440-47470450, 47470490-47470497, 47470507
117SERPING1110.994677312042588150357381930-57381937
118BEST1110.999431171786121175861719340
119SLC22A12110.59987966305656665166264359030-64359032, 64359094-64359133, 64359146-64359153, 64359159, 64359165, 64359216-64359223, 64359286, 64359349-64359365, 64359382-64359384, 64359392-64359400, 64359410-64359415, 64360258-64360333, 64360877-64360885, 64360921-64360933, 64360936-64360939, 64360956-64360967, 64361025, 64361029, 64361108-64361123, 64361130, 64361160-64361174, 64361179-64361185, 64361196-64361243, 64361274-64361275, 64365988-64366009, 64366014, 64366018-64366034, 64366052-64366068, 64366098-64366111, 64366280-64366282, 64366308-64366315, 64366321, 64366340, 64366344, 64366371-64366377, 64367148-64367340, 64367349-64367352, 64367361-64367362, 64367853-64367895, 64368240, 64368246, 64368253, 64368264-64368287, 64368292, 64368297
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125PC110.82131750070681632353766616406-66616408, 66616473-66616474, 66616542, 66617229-66617248, 66617271, 66617288-66617289, 66617292, 66617326, 66617430-66617464, 66617691-66617710, 66617760, 66617861-66617863, 66618170, 66618191, 66618196-66618197, 66618251-66618258, 66618264-66618298, 66618325, 66618373-66618388, 66618528, 66618535-66618544, 66618563-66618583, 66618652-66618659, 66619382-66619385, 66619981, 66620009-66620053, 66620067-66620073, 66620076-66620084, 66620095-66620106, 66620131, 66620247-66620284, 66620847, 66620850, 66631248-66631295, 66631330-66631347, 66631371-66631391, 66633673-66633711, 66636330, 66637806, 66637810-66637841, 66638600-66638609, 66638653-66638668, 66638807-66638829, 66638844-66638853, 66638907, 66638942-66638951, 66639162-66639163, 66639172, 66639190-66639239, 66639303-66639305, 66639503-66639534, 66639605
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127AIP110.157099697885283799367250630-67250660, 67250700-67250706, 67254477-67254487, 67254503-67254507, 67254544, 67254549-67254573, 67254596-67254637, 67254649-67254656, 67256738-67256874, 67256880-67256924, 67257509-67257685, 67257787-67257928, 67258259-67258464
128NDUFS8110.3902053712480338663367799627-67799676, 67799770-67799803, 67800390-67800421, 67800438, 67800453-67800467, 67800578-67800602, 67800650-67800736, 67803720-67803743, 67803765, 67803784-67803823, 67803831-67803833, 67803838-67803848, 67803937-67803948, 67803974-67803979, 67804010, 67804017-67804060
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131CPT1A110.996985357450477232268527722-68527728
132IGHMBP2110.9942991281019417298268671474-68671487, 68673637, 68703959, 68707189
133DHCR7110.9705882352941242142871146578-71146597, 71146652-71146656, 71146667-71146679, 71146842-71146845
134LRTOMT110.99657534246575387671819120-71819122
135MYO7A110.746841155234661683664876867096-76867097, 76867992, 76883796, 76883799-76883858, 76883884, 76883887-76883910, 76883914, 76883925-76883931, 76885802-76885810, 76885817-76885864, 76885873-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894182, 76894193-76894202, 76895658, 76895686-76895696, 76895722-76895725, 76895759-76895760, 76900389-76900406, 76900416, 76900420, 76900461-76900462, 76900468-76900470, 76900493, 76900513, 76901065-76901069, 76901077, 76901101-76901146, 76901151-76901158, 76901174-76901177, 76901852, 76903224-76903255, 76903270-76903279, 76903284-76903300, 76909567
136ALG8110.995572422517397158177820561, 77823724-77823729
137TRPC6110.9964234620887102796101359770-101359771, 101454167-101454173, 101454215
138ALG9110.9994553376906311836111742156
139DRD2110.9932432432432491332113281449-113281452, 113283315, 113283481, 113283486, 113295130, 113295135
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141SCN4B110.9403202328966541687118014549, 118015854, 118023337-118023375
142HMBS110.98987108655617111086118955755-118955765
143DPAGT1110.9975550122249431227118967854-118967856
144ROBO3110.99759673155491104161124735551-124735557, 124738891-124738893
145ACAD8110.98878205128205141248134131677-134131684, 134134810-134134815
146WNK1120.98825010490978847149862747-862749, 863149-863197, 994395-994421, 994806-994810
147CACNA1C120.993903368388974065612676766-2676771, 2676916-2676925, 2690928-2690934, 2705111, 2716292, 2788879, 2794934-2794940, 2795425-2795431
148VWF120.9654110400379129284426122647-6122650, 6125328-6125375, 6125722-6125728, 6125813-6125819, 6127532-6127538, 6127655-6127661, 6127726-6127744, 6128064-6128070, 6128257-6128263, 6128339-6128357, 6128449-6128451, 6128476-6128508, 6128544-6128560, 6128630-6128656, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033, 6172129-6172134
149TNFRSF1A120.991959064327491113686438538-6438544, 6438581-6438583, 6438597
150SCNN1A120.99634202103338821876457318-6457320, 6464578-6464582
151TPI1120.948397506976805-6976807, 6976837-6976845, 6978146-6978147, 6978456-6978462, 6979461-6979478
152ATN1120.984326896165695635737045892-7045912, 7047223, 7050584-7050605, 7050639, 7050647-7050657
153PKP2120.9856801909307936251433049447, 33049463-33049469, 33049611-33049638
154LRRK2120.9951213080168837758440745433-40745445, 40745493, 40757313-40757314, 40760849, 40761535-40761554
155VDR120.997663551401873128448251345-48251347
156COL2A1120.998207885304668446448377870-48377871, 48393858-48393859, 48398080, 48398099-48398101
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158DHH120.9638958858102443119149483884-49483890, 49484110-49484145
159TUBA1A120.870614035087725945649522210-49522241, 49522269, 49522303-49522320, 49522386, 49522411, 49522457, 49522468, 49522575, 49522578, 49522585, 49522605
160KRT81120.89196310935441164151852683883, 52683916, 52683943-52683964, 52684021-52684060, 52684881-52684913, 52685075-52685087, 52685125-52685140, 52685156-52685193
161KRT86120.88090349075975174146152695739-52695774, 52695805-52695837, 52696038, 52696053-52696069, 52696895-52696934, 52696990-52697031, 52702188-52702192
162KRT83120.995276653171397148252715026-52715032
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168RDH5120.99895506792059195756114969
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170CDK4120.99451754385965591258142969, 58142974-58142976, 58142980
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172CEP290120.9978494623655916744088524075-88524090
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175SDS120.9219858156028477987113830940, 113830950, 113835093-113835138, 113836333-113836350, 113836542, 113836545-113836546, 113836562, 113836590-113836595, 113836930
176TBX5120.9987154784842621557114804082, 114804088
177TBX3120.9977598566308252232115112244-115112246, 115112304, 115112307
178HNF1A120.95147679324895921896121416583, 121416604, 121416611, 121416738-121416763, 121434196, 121434442-121434454, 121435310-121435316, 121437364-121437371, 121437382, 121437395, 121437404-121437420, 121438956-121438959, 121438985-121438995
179HPD120.860406091370561651182122277838-122277861, 122281684-122281692, 122284958-122284963, 122284999-122285025, 122285091, 122286905-122286940, 122287654-122287674, 122287690-122287696, 122294230-122294260, 122294521, 122295709, 122296605
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181GJB2130.99559471365639368120763247, 20763253-20763254
182SACS130.99919941775837111374023908430-23908440
183B3GALTL130.9692718770875146149731774222-31774260, 31774272-31774278
184BRCA2130.9993175392414971025732893440, 32910718, 32910723-32910724, 32912466-32912467, 32913471
185FREM2130.9980021030494219951039261568-39261570, 39261673, 39261682-39261690, 39261787-39261791, 39262342
186SLC25A15130.99227373068433790641382658-41382664
187RB1130.999641191245071278748878114
188ATP7B130.9945429740791324439852508953-52508973, 52509084-52509085, 52509817
189SLITRK1130.996652319464377209184453755, 84453758, 84453770-84453774
190ZIC2130.857410881801132281599100634319-100634338, 100634384-100634414, 100634527, 100634558-100634609, 100634703, 100634712-100634714, 100635008-100635013, 100637715-100637717, 100637723-100637758, 100637769, 100637805-100637865, 100637871-100637877, 100637906-100637911
191PCCA130.9995427526291712187100741432
192F7130.2411985018726610131335113760156-113760198, 113760202, 113760216-113760219, 113765037-113765093, 113765115-113765145, 113765154-113765163, 113768205-113768242, 113768265-113768266, 113769974-113770048, 113770057-113770114, 113771087, 113771140-113771189, 113771787-113771818, 113771832-113771896, 113771904-113771910, 113772728-113772928, 113772934-113773069, 113773109-113773263, 113773276-113773322
193F10130.94751192910702771467113777184-113777214, 113777217, 113777221-113777224, 113777228-113777239, 113798271-113798278, 113803298, 113803308-113803316, 113803336-113803341, 113803698-113803702
194GRK1130.80319148936173331692114321722-114321726, 114321758, 114321765-114321774, 114321798-114321872, 114321882-114321888, 114321926-114321929, 114321959, 114322034-114322043, 114322135-114322154, 114322168, 114322363-114322390, 114324022-114324029, 114325858, 114325869, 114325872-114325906, 114325954-114325958, 114325964-114325971, 114426047-114426094, 114426103, 114434200-114434248, 114435945-114435948, 114436027, 114436035-114436043, 114436050
195TEP1140.999746321664132788420851757-20851758
196PABPN1140.99348534201954692123790700-23790702, 23791005, 23791020, 23791028
197MYH6140.9931271477663240582023853686, 23858218-23858221, 23859444, 23862888-23862891, 23863308-23863311, 23868060, 23868127, 23868131-23868133, 23869541-23869545, 23869548, 23869551-23869556, 23869957, 23869964, 23870095, 23871952-23871957
198MYH7140.996556473829220580823884876, 23885278-23885279, 23887469-23887474, 23887477, 23887526, 23887533-23887536, 23887550-23887554
199NRL140.90476190476196871424550475-24550494, 24550548-24550593, 24550643-24550644
200PCK2140.997399895995845192324572434-24572436, 24572440, 24572454
201TGM1140.9629176854115791245424723378-24723398, 24723881-24723883, 24724246-24724251, 24724349-24724353, 24724387-24724401, 24725203-24725209, 24725214-24725225, 24725277-24725283, 24729846-24729847, 24729852-24729857, 24731415-24731417, 24731440-24731442, 24731447
202FOXG1140.82857142857143252147029236620-29236730, 29236747, 29236754-29236760, 29236778-29236837, 29236864, 29236873-29236926, 29236929-29236946
203NKX2-1140.84825870646766183120636986583, 36986590, 36986600, 36986659-36986684, 36986691-36986755, 36986826-36986842, 36986856, 36986859, 36986870-36986915, 36986954-36986955, 36988190, 36988371-36988390, 36989297
204MGAT2140.9918154761904811134450088125-50088132, 50088469-50088471
205C14orf104140.9900556881463825251450100573, 50100751-50100758, 50101057, 50101261, 50101353-50101358, 50101479, 50101556-50101557, 50101560-50101563, 50101682
206PYGL140.9921383647798720254451379779-51379790, 51410941-51410948
207GCH1140.8127490039840614175355369084-55369110, 55369193-55369270, 55369280-55369282, 55369285-55369295, 55369298-55369308, 55369351-55369361
208SYNE2140.9999517467670312072464685220
209PSEN1140.995014245014257140473637660-73637662, 73673165-73673168
210VSX2140.9742173112338928108674706340-74706343, 74706392, 74706401-74706423
211FLVCR2140.999367488931061158176045879
212ESRRB140.9430255402750587152776957792, 76957804, 76957808-76957812, 76957887, 76957905, 76957925-76957938, 76957942-76957944, 76958012-76958014, 76958021, 76964622-76964640, 76964668-76964703, 76964747-76964748
213POMT2140.9600532623169190225377786820-77786885, 77786973, 77786979-77786980, 77786995-77787014, 77787018
214ATXN3140.9861878453038715108692537317-92537327, 92537355-92537357, 92560130
215AMN140.0462555066079312991362103389026-103389068, 103390057, 103390065, 103390079-103390085, 103390089, 103390091-103390099, 103390103-103390104, 103390110-103390163, 103390284-103390314, 103394763-103394850, 103395095-103395117, 103395123-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
216INF2140.05946666666666735273750105167703-105167812, 105167827-105167894, 105167908-105168093, 105169442-105169557, 105169632-105169686, 105169709-105169791, 105170253-105170286, 105172372-105172513, 105173261-105173290, 105173296, 105173299, 105173322-105173388, 105173590-105173610, 105173617-105173821, 105173827-105174339, 105174773-105174783, 105174792-105174924, 105175008-105175069, 105175618-105175626, 105175635-105175663, 105175671-105175720, 105175957-105176005, 105176013-105176035, 105176041-105176042, 105176425-105176495, 105176501-105176525, 105177274-105177344, 105177416-105177523, 105177966-105177995, 105178005-105178036, 105178770-105178837, 105178843-105178890, 105179165-105179329, 105179544-105179646, 105179782-105179900, 105179914-105179943, 105180540-105180800, 105180813-105180871, 105180881-105180882, 105180893-105180969, 105180981-105181193, 105181621-105181665
217NIPA1150.7696969696969722899023049004-23049053, 23086234-23086411
218CHST14150.9274977895667682113140763419, 40763444, 40763447-40763470, 40763479, 40763509-40763540, 40763707-40763709, 40763786, 40763802-40763820
219CAPN3150.997549019607846244842691790-42691795
220CDAN1150.997557003257339368443028650-43028653, 43028720-43028724
221STRC150.992304804804841532843910863-43910903
222DUOX2150.9849365181837770464745403582-45403599, 45403621, 45403755-45403783, 45403985-45404004, 45405199-45405200
223GATM150.9889937106918214127245670618-45670630, 45670637
224FBN1150.999187558031577861648791194-48791200
225CLN6150.932692307692316393668500487-68500492, 68521853-68521889, 68521901, 68521904-68521922
226NR2E3150.999094202898551110472105808
227BBS4150.999358974358971156073023781
228HCN4150.81672203765227662361273614834, 73614877, 73614883, 73615170, 73615676, 73616447, 73659827-73659828, 73659869, 73659959-73660611
229PSTPIP1150.0479616306954441191125177310489-77310507, 77310516-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321875, 77321892-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
230RPS17150.98039215686275840882823386-82823393
231RPS17150.85784313725495840883207665, 83207729-83207736, 83208732-83208756, 83208818, 83208840, 83208862-83208883
232POLG150.9889784946236641372089876824-89876864
233MESP2150.80737018425461230119490319589-90319594, 90319602-90319603, 90319620-90319637, 90319682, 90319697, 90319806, 90319823-90319889, 90319924, 90319936-90319941, 90319966-90319993, 90320116-90320164, 90320170-90320188, 90320242, 90320300, 90320351-90320379
234BLM150.9971791255289112425491337458-91337463, 91337475-91337480
235VPS33B150.9811218985976335185491542229, 91543001-91543002, 91543005-91543010, 91543014-91543017, 91548927-91548935, 91548986, 91565389-91565400
236HBZ160.30536130536131298429202909-202930, 202956-202975, 202988-203003, 203893, 203896, 203900-203901, 203906, 203918-203941, 203949-203992, 204001-204095, 204271-204323, 204330-204338, 204341-204350
237HBM160.997652582159621426216031
238HBA2160.3962703962704259429222912-223006, 223124-223153, 223199-223208, 223236, 223240-223247, 223257-223258, 223264, 223275-223321, 223472-223501, 223511, 223532-223565
239GNPTG160.787581699346411959181401967-1402018, 1402103-1402127, 1402140-1402160, 1402240-1402307, 1412074, 1412250-1412251, 1412266, 1412277-1412300, 1413030
240CLCN7160.27708850289495174824181496632-1496718, 1497007-1497087, 1497393-1497569, 1497656-1497715, 1498356-1498485, 1498682-1498767, 1498967-1499094, 1499277-1499328, 1500498-1500667, 1501624-1501712, 1502756-1502894, 1503835-1503895, 1504412-1504466, 1505135-1505251, 1505732-1505737, 1505759-1505796, 1506114-1506150, 1506158-1506166, 1506194-1506207, 1507255-1507261, 1507290-1507296, 1507695-1507721, 1507735, 1507743-1507744, 1507747-1507757, 1509108-1509109, 1509123, 1509135-1509147, 1509182-1509184, 1509187-1509188, 1510431-1510456, 1510516-1510518, 1510870-1510874, 1510912-1510939, 1510946, 1524835, 1524873-1524922, 1524932-1524937, 1524960-1524975
241IGFALS160.15579710144928163119321840616-1840713, 1840722-1840763, 1840773-1840774, 1840790-1840926, 1840947-1840982, 1840998-1841087, 1841097-1841109, 1841112-1841113, 1841118, 1841131-1841271, 1841296-1841297, 1841299-1841320, 1841323-1841324, 1841341-1841364, 1841374-1841381, 1841389, 1841397, 1841405-1841427, 1841452-1841706, 1841728-1841865, 1841874, 1841877, 1841884-1841896, 1841904-1842095, 1842115-1842116, 1842134-1842198, 1842209-1842310, 1842316-1842516, 1843638-1843653
242GFER160.0922330097087385616182034220-2034477, 2034748-2034852, 2034860-2034900, 2034909-2034910, 2034935-2034937, 2035867-2035952, 2035964-2036029
243TSC2160.17643805309735446754242098618-2098621, 2098647-2098685, 2098692, 2098704-2098754, 2100401-2100437, 2103343-2103345, 2103386-2103420, 2103427-2103431, 2103439-2103441, 2103452-2103453, 2104297-2104301, 2104362, 2104426-2104431, 2105515, 2106198-2106225, 2106244, 2106674-2106687, 2106753, 2108748-2108751, 2108765-2108804, 2108810, 2108813, 2108825-2108826, 2108829, 2108859-2108864, 2108871-2108874, 2110671-2110814, 2111872-2111890, 2111897-2111908, 2111911-2111915, 2111945, 2112005-2112009, 2112500-2112505, 2112517-2112526, 2112545-2112601, 2112973-2113043, 2114273-2114283, 2114336, 2114341-2114342, 2114350-2114362, 2114367, 2114370-2114371, 2114386-2114428, 2115520-2115576, 2115585-2115597, 2115600-2115604, 2115607-2115617, 2120457-2120497, 2120505-2120579, 2121511-2121617, 2121787-2121935, 2122242-2122254, 2122262-2122364, 2122850-2122967, 2122975, 2122979-2122984, 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
244PKD116012912129122139728-2140195, 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
245ABCA3160.744477028348130751152326675-2326693, 2326702-2326753, 2327598-2327599, 2327659, 2327880-2327881, 2327929-2327944, 2327952-2327953, 2327968-2327977, 2327982-2327995, 2328025, 2328069-2328070, 2328315-2328326, 2328343, 2328376-2328384, 2328388, 2328391-2328393, 2328397-2328404, 2328439, 2328442, 2329004-2329040, 2331028-2331039, 2331043-2331066, 2331090-2331119, 2331142, 2331146-2331148, 2331151-2331202, 2331214-2331222, 2331407-2331466, 2331495-2331510, 2333187-2333272, 2333297-2333320, 2333331-2333359, 2334282-2334290, 2334303-2334322, 2334345, 2334351-2334357, 2334399-2334415, 2334780-2334784, 2334803-2334804, 2334807-2334814, 2334905-2334908, 2334920-2334999, 2335473-2335477, 2335481-2335491, 2335503-2335508, 2335515-2335555, 2335618-2335647, 2336695-2336706, 2336744-2336747, 2336756, 2336762, 2336767, 2336781-2336787, 2336919-2336932, 2338029-2338032, 2338036, 2338039, 2338064-2338095, 2338127-2338131, 2338142-2338143, 2338166, 2338269, 2339471-2339482, 2339544-2339563, 2339592-2339621, 2342206-2342207, 2345596, 2345600, 2345603, 2345645-2345648, 2345669, 2345740, 2347348, 2347353-2347363, 2347371, 2347407, 2347435-2347440, 2347483-2347501, 2347514-2347516, 2347528-2347540, 2347770-2347803, 2347812-2347855, 2347921-2347922, 2348387-2348400, 2348419-2348444, 2348506-2348540, 2349448-2349470, 2349475-2349478, 2350009-2350011, 2350014-2350030, 2350057, 2354074, 2358560-2358568, 2358585-2358613, 2367745-2367756, 2369669-2369676, 2369744-2369748, 2369778-2369800, 2369825, 2374465-2374477, 2376052, 2376072
246MEFV160.989769820971872423463293218, 3293290, 3293635, 3297047-3297054, 3297060, 3297078, 3304516-3304520, 3304573, 3306343, 3306366, 3306371-3306372, 3306414
247SLX4160.988737511353326255053632377, 3632385, 3632524, 3632527-3632529, 3632533, 3632558-3632564, 3633326, 3634795, 3639369, 3639768, 3639993-3639994, 3642765-3642768, 3647900-3647917, 3650987-3650998, 3651017-3651024
248CREBBP160.9343703097284848173293777794-3777801, 3777858, 3777989-3777995, 3778034-3778057, 3778159, 3778223-3778229, 3778294-3778320, 3778385-3778386, 3778388, 3778393-3778398, 3778419, 3778439-3778455, 3778560, 3778571-3778573, 3778589, 3778600-3778652, 3778788-3778811, 3778836-3778842, 3778890-3778961, 3779008-3779019, 3779062-3779088, 3779106-3779112, 3779139, 3779148, 3779154-3779175, 3779207-3779221, 3779251-3779272, 3779297, 3779301-3779321, 3779356-3779370, 3779404-3779414, 3779420-3779421, 3779452-3779482, 3779703-3779728, 3790401, 3819202, 3819242-3819243
249GLIS2160.023492063492063153815754382282-4382453, 4383348-4383441, 4383466-4383483, 4383490-4383520, 4384802-4384911, 4384919-4384978, 4385061-4385194, 4385276-4385394, 4386726-4387525
250ALG1160.8043010752688227313955127519, 5127967, 5127994-5128018, 5128775-5128794, 5128822-5128873, 5129065-5129089, 5129749-5129754, 5129792, 5130959-5131006, 5131019-5131052, 5132633-5132663, 5134815-5134837, 5134877-5134882
251ABAT160.99667332002661515038873397-8873401
252MYH11160.9927609427609443594015797925-15797932, 15797935, 15820753, 15826511-15826521, 15829233-15829245, 15833971, 15835350, 15839034, 15847251-15847255, 15869970
253ABCC6160.74157801418441166451216244040, 16244487-16244490, 16244544-16244552, 16253339, 16253355, 16253380-16253394, 16255295-16255327, 16255340-16255341, 16255350-16255379, 16256850-16256914, 16256950-16256971, 16257012-16257028, 16259480-16259611, 16259620-16259657, 16259692-16259727, 16259739, 16259750, 16259755-16259784, 16259790, 16263503-16263710, 16267141-16267261, 16269768-16269843, 16271309-16271322, 16271335-16271389, 16271402-16271407, 16271417-16271470, 16271473, 16272655-16272665, 16272670, 16272673-16272676, 16272695-16272700, 16272703-16272704, 16272707, 16272732-16272743, 16272746-16272752, 16272758, 16272769-16272771, 16272821-16272822, 16276269-16276302, 16276411-16276415, 16276714-16276725, 16276757-16276775, 16282748-16282753, 16284036-16284065, 16317256-16317291
254UMOD160.996879875195016192320359853-20359854, 20359890, 20360073-20360074, 20360312
255COG7160.996108949416349231323403752-23403755, 23436108-23436111, 23464230
256PALB2160.998034260039317356123634388-23634392, 23641367-23641368
257CLN3160.92331055429005101131728493482, 28493497-28493501, 28497672-28497675, 28497698-28497705, 28497712, 28497732, 28497735-28497740, 28498816, 28498837, 28498849-28498851, 28498858-28498862, 28499014-28499015, 28499027-28499042, 28499912-28499936, 28500611-28500613, 28500658-28500676
258TUFM160.9459064327485474136828857337, 28857375-28857421, 28857551-28857576
259ATP2A1160.95143047238856146300628893819, 28893844, 28895915-28895921, 28895962-28895976, 28898519-28898520, 28898574-28898580, 28898746-28898753, 28898930-28898946, 28900143-28900191, 28900258-28900269, 28909744, 28912007, 28912137-28912159, 28914715-28914716
260PHKG2160.9844389844389819122130760146, 30760156-30760164, 30760179, 30760183-30760185, 30760188, 30762568, 30762600, 30764720, 30768335
261VKORC1160.961382113821141949231102624, 31102646-31102649, 31102653-31102663, 31105889, 31105896, 31105950
262FUS160.9620493358633860158131191536, 31193959, 31195295-31195306, 31195676-31195717, 31196403-31196405, 31196471
263SLC5A2160.77761267954433449201931494495-31494507, 31494518-31494562, 31496045-31496065, 31496140-31496159, 31497128-31497145, 31497513-31497519, 31498868-31498869, 31498914, 31499026-31499079, 31499359-31499374, 31499399-31499412, 31499416, 31499449-31499474, 31499798-31499803, 31499943-31499964, 31499974-31500003, 31500040-31500089, 31500201-31500241, 31500272-31500286, 31500361-31500369, 31500544-31500547, 31501730-31501763
264PHKB160.999390615478372328247627467-47627468
265SALL1160.999245283018873397551175656-51175658
266MMP2160.997478567826535198355513392-55513396
267SLC12A3160.85224700937601457309356899208-56899209, 56899220-56899231, 56899413-56899418, 56901045-56901055, 56901059-56901065, 56901089-56901096, 56901102, 56901107-56901108, 56906370, 56906645-56906650, 56906659-56906661, 56906670, 56911989-56911997, 56912985-56913004, 56913026, 56913109, 56913120-56913139, 56913499-56913546, 56914042, 56914046, 56914049-56914052, 56914129, 56914146-56914147, 56914154-56914165, 56918026, 56918065, 56918101-56918103, 56919245, 56919276, 56920276-56920310, 56920363, 56920865-56920866, 56920908-56920950, 56920965-56920981, 56920989-56921000, 56921837-56921943, 56924186-56924222, 56926042, 56926070-56926072, 56926954-56926958, 56926962-56926963, 56928548-56928549, 56928553, 56933446, 56947300
268GPR56160.82364341085271364206457684200-57684216, 57684232-57684237, 57685138-57685147, 57685186-57685224, 57685273-57685291, 57687898-57687911, 57689311-57689370, 57689411-57689425, 57689834-57689841, 57689876-57689899, 57690464-57690465, 57690506-57690513, 57691285-57691313, 57693325-57693345, 57693351-57693371, 57693460-57693468, 57693485, 57693498, 57693528, 57693531, 57694760, 57694771, 57695629-57695635, 57695661-57695663, 57695674-57695683, 57695734-57695738, 57695748-57695760, 57695763-57695769, 57697422-57697432
269CNGB1160.993343982960625375657957177-57957191, 57992320, 58001035-58001040, 58001077, 58001117, 58001125
270TK2160.958874458874463892466583880, 66583913-66583949
271HSD11B2160.82183908045977217121867465152-67465364, 67465384, 67465401, 67465405, 67470001
272LCAT160.67724867724868427132367973807-67973819, 67973837, 67973862-67973894, 67973921-67973943, 67973962-67974009, 67974027-67974033, 67974089-67974172, 67974304-67974308, 67974338-67974342, 67974347-67974348, 67976277, 67976412-67976413, 67976461, 67976469-67976490, 67976587-67976625, 67976633-67976640, 67976648-67976669, 67976772-67976781, 67976787, 67976868-67976869, 67976959-67976993, 67977040-67977051, 67977884-67977885, 67977931, 67977957-67978004
273CDH3160.92369477911647190249068679283-68679293, 68679323-68679327, 68712173-68712177, 68716264-68716265, 68716332, 68716340-68716342, 68718605-68718609, 68718633, 68719126-68719174, 68719240-68719247, 68721441-68721474, 68721591-68721598, 68721639, 68725742-68725786, 68725794-68725800, 68725825-68725829
274CDH1160.9886749716874330264968771326-68771355
275COG8160.89070146818923201183969364742-69364743, 69364771-69364877, 69364956-69364957, 69364985, 69370410-69370413, 69370482-69370483, 69373079-69373102, 69373126-69373143, 69373181-69373201, 69373203, 69373215-69373220, 69373227-69373235, 69373414, 69373427, 69373441, 69373444
276AARS160.997248022015828290770299495-70299501, 70303580
277HP160.9221949221949295122172092155-72092178, 72092190-72092237, 72093014-72093036
278GCSH160.881226053639856252281129739-81129760, 81129786-81129799, 81129810, 81129850-81129874
279GAN160.9944258639910810179481348730-81348731, 81348738, 81348748, 81348762-81348767
280MLYCD160.67273954116059485148283932750-83932912, 83932919-83932963, 83932970-83933039, 83933049-83933149, 83933159-83933161, 83933166, 83933180-83933186, 83933203-83933234, 83933257-83933277, 83941801-83941807, 83945880-83945882, 83945908, 83948761-83948763, 83948844, 83948849, 83948860-83948861, 83948922-83948945
281LRRC50160.9761248852157952217884199433-84199435, 84199440-84199441, 84199535-84199536, 84203713-84203719, 84203896, 84203939-84203940, 84205952-84205956, 84209651, 84209858-84209885, 84211383
282FOXF1160.8219298245614203114086544179-86544183, 86544207-86544217, 86544221-86544226, 86544232, 86544246, 86544256-86544257, 86544262-86544268, 86544295-86544315, 86544339-86544351, 86544583-86544602, 86544697-86544716, 86544770-86544771, 86544839-86544881, 86544891-86544924, 86545029, 86546658-86546673
283FOXC2160.8472775564409230150686601097-86601098, 86601107, 86601341, 86601344-86601346, 86601349, 86601423-86601433, 86601505-86601514, 86601592-86601607, 86601657-86601687, 86601696-86601699, 86601708-86601728, 86601790-86601796, 86601802-86601804, 86601849-86601850, 86601865, 86601868-86601872, 86601967-86601984, 86602067, 86602075-86602077, 86602080, 86602116-86602144, 86602160-86602193, 86602246, 86602314-86602337
284JPH3160.374276813529151406224787636753-87636754, 87636836-87636888, 87636910-87636912, 87636929-87636933, 87637028, 87637084-87637085, 87637106-87637134, 87677891-87677991, 87678025-87678054, 87678094-87678113, 87678144, 87678153-87678195, 87678211, 87678217-87678222, 87678271-87678282, 87678290, 87678307-87678327, 87678340-87678362, 87678370-87678372, 87678384-87678408, 87678427-87678486, 87678502-87678523, 87678551-87678641, 87717748-87717872, 87723252-87723510, 87723518-87723627, 87723641-87723811, 87723822, 87723866-87723932, 87723956-87724043, 87724052, 87724085-87724099, 87724119-87724132
285CYBA160.1666666666666749058888709761-88709979, 88712524-88712605, 88713163-88713191, 88713206, 88713230-88713246, 88713509-88713553, 88713563-88713569, 88714453-88714464, 88714485-88714504, 88717364-88717421
286APRT160.04604051565377551854388876106-88876235, 88876244-88876248, 88876478-88876556, 88876831-88876885, 88876903-88876964, 88877958-88878064, 88878228-88878307
287GALNS160.40535372848948933156988880847-88880933, 88884415-88884532, 88888997-88889118, 88891175-88891277, 88893110-88893152, 88893163-88893164, 88893176-88893208, 88898406-88898439, 88898465-88898476, 88901621-88901633, 88901646-88901648, 88901663, 88901749-88901760, 88902144-88902146, 88902164-88902167, 88902178, 88902188, 88902193, 88902206, 88902609, 88902618, 88904030-88904032, 88904043-88904051, 88904078, 88904083, 88904087, 88907400-88907459, 88907474, 88907493-88907502, 88908305-88908374, 88909114-88909153, 88909182-88909200, 88909208, 88909211, 88923166-88923285
288SPG7160.84087102177554380238889574826-89574843, 89574910-89574959, 89574983-89574994, 89598344-89598346, 89598414-89598416, 89613126, 89613163, 89614411-89614418, 89614439-89614464, 89614474, 89614484-89614516, 89616986-89617010, 89619431-89619478, 89620303-89620304, 89620339, 89620343-89620368, 89620906-89620907, 89623372-89623424, 89623430-89623489, 89623495-89623501
289FANCA160.90407509157509419436889805021-89805052, 89805055-89805059, 89805078-89805091, 89805102, 89805541-89805549, 89805589, 89805931-89805956, 89806435, 89806440-89806441, 89806452-89806454, 89806468, 89807226-89807248, 89807274, 89809209-89809218, 89809221, 89809300, 89811378, 89811430, 89811433-89811435, 89815124-89815144, 89818598, 89831347-89831354, 89836270, 89836972-89836993, 89837000-89837042, 89838094-89838105, 89839679-89839706, 89839750-89839757, 89842150, 89842155-89842180, 89842188, 89842203, 89842206-89842215, 89842219-89842223, 89845220-89845245, 89880991-89880993, 89882303-89882315, 89882945-89882956, 89882977-89883010, 89883017-89883023
290TUBB3160.5410199556541621135389989811-89989821, 89989835-89989866, 89998995-89998997, 89999038, 89999043-89999045, 89999048-89999054, 89999058-89999060, 89999877-89999883, 89999957, 89999968, 90001182, 90001226-90001264, 90001282-90001314, 90001341, 90001346-90001350, 90001382-90001497, 90001523-90001526, 90001547, 90001558-90001594, 90001630-90001714, 90001725-90001816, 90001839, 90001842, 90001845, 90001856-90001858, 90001863, 90001869, 90001874-90001894, 90001936-90001949, 90001958, 90001974-90002003, 90002041-90002064, 90002121-90002123, 90002130-90002133, 90002138, 90002141, 90002156-90002157, 90002172-90002199, 90002212
291PRPF8170.995433789954343270081586878-1586887, 1587766-1587787
292CTNS170.6625103906899440612033550781, 3552187, 3558557-3558560, 3558630-3558634, 3559781-3559825, 3559831-3559859, 3559874, 3559877-3559880, 3559976-3560011, 3560021-3560024, 3560040-3560089, 3561299-3561325, 3561334, 3561351-3561377, 3561419-3561421, 3561424, 3563152-3563194, 3563209-3563265, 3563530-3563535, 3563596, 3563602-3563620, 3563911-3563951
293CHRNE170.7179487179487241814824802088, 4802137, 4802146-4802149, 4802155, 4802158, 4802167-4802186, 4802296-4802306, 4802322-4802359, 4802383-4802402, 4802502, 4802509-4802530, 4802564-4802647, 4802659-4802679, 4802763-4802773, 4802783, 4802802-4802848, 4804181-4804202, 4804332-4804336, 4804346-4804348, 4804375-4804406, 4804416-4804436, 4804443-4804485, 4804821, 4805296-4805299, 4805358, 4805614, 4806344
294GP1BA170.99947916666667119204837153
295PITPNM3170.9340170940170919329256358670-6358673, 6358678, 6358688-6358767, 6358923, 6358957-6358963, 6373621-6373624, 6373635, 6373678, 6373682-6373684, 6374483-6374489, 6374622-6374624, 6374628-6374633, 6375993, 6376027, 6376032-6376034, 6376067-6376079, 6376108-6376109, 6377771-6377785, 6377809, 6377824-6377830, 6377846, 6377892, 6381867-6381871, 6382005, 6382021-6382022, 6459705-6459726
296ACADVL170.991361788617891719687123304-7123308, 7123344-7123350, 7124866-7124868, 7125344, 7127962
297CHRNB1170.969455511288184615067348457-7348468, 7348472, 7348481, 7348494-7348496, 7348631-7348636, 7348641, 7348644-7348660, 7348716, 7348721, 7348728, 7350897, 7359224
298GUCY2D170.988828502415463733127906385-7906386, 7906389, 7906392, 7906420-7906435, 7906451-7906466, 7906838
299ALOX12B170.99620132953466821067982758-7982765
300ALOXE3170.99812734082397421368013765-8013768
301HES7170.839233038348081096788024897-8024910, 8024913-8024916, 8024958, 8024963-8025004, 8025018, 8025024-8025026, 8025116-8025136, 8025144-8025163, 8025236, 8025322, 8025329
302MYH2170.998455200823899582610426871-10426877, 10427924, 10446477
303MYH3170.9981109393783311582310558178-10558188
304ELAC2170.9778315195485755248112897097-12897099, 12898170, 12898182-12898198, 12898284-12898301, 12899022, 12899875-12899876, 12899882, 12899942-12899947, 12903512-12903516, 12906823
305TNFRSF13B170.98979591836735988216843776-16843777, 16852255-16852261
306FLCN170.74712643678161440174017117032, 17117058-17117113, 17118513-17118515, 17118567-17118569, 17118606, 17118613, 17119705-17119734, 17119744-17119789, 17120454-17120461, 17122333-17122349, 17122381-17122389, 17122451, 17122471-17122473, 17124876, 17124879-17124886, 17124891, 17124895, 17125817, 17125837-17125916, 17125925, 17125928, 17127255, 17127260-17127263, 17127268, 17127311-17127314, 17127326-17127347, 17127354, 17127400-17127401, 17127453-17127454, 17129490-17129498, 17129527-17129551, 17129568-17129577, 17129604, 17129619, 17131203-17131262, 17131323, 17131326-17131330, 17131342-17131346, 17131422-17131434
307RAI1170.92903338577172406572117696776-17696786, 17697094-17697096, 17697099, 17697110-17697119, 17697223-17697227, 17697232, 17697236, 17697283-17697298, 17697377, 17697615-17697629, 17697637, 17697643-17697644, 17697722-17697723, 17697769, 17697781-17697807, 17698222-17698223, 17698226, 17698230, 17698234-17698236, 17698725, 17698779, 17698790, 17698797, 17698801, 17698805, 17698813, 17698817-17698832, 17698865-17698869, 17698876, 17698879, 17699142, 17699145, 17699164, 17699274-17699302, 17699453-17699459, 17699523, 17699619-17699639, 17699675-17699707, 17699833-17699834, 17699837-17699839, 17699894-17699900, 17699938, 17700946-17700947, 17701144-17701167, 17701243, 17701456-17701466, 17701539-17701581, 17701695, 17701700-17701703, 17701721, 17701733, 17701811, 17707082, 17707086-17707087, 17707126-17707163, 17712731-17712753, 17713284-17713295
308MYO15A170.7689983951666224471059318022123-18022138, 18022171-18022210, 18022231, 18022270-18022278, 18022287-18022288, 18022369-18022392, 18022424-18022437, 18022464-18022495, 18022566-18022572, 18022630-18022717, 18022787-18022789, 18022829-18022865, 18022873-18022916, 18022931-18022956, 18023016-18023078, 18023101-18023108, 18023147-18023163, 18023257-18023329, 18023350-18023364, 18023408-18023445, 18023456-18023457, 18023464-18023484, 18023500-18023502, 18023529-18023572, 18023621-18023653, 18023659, 18023678-18023685, 18023707-18023768, 18023804-18023812, 18023830, 18023839-18023854, 18023871, 18023880-18024199, 18024211-18024283, 18024291-18024465, 18024472-18024708, 18024714-18024720, 18024728-18024770, 18024776-18024887, 18024906-18024932, 18024942-18025010, 18025028-18025097, 18025137-18025271, 18025297-18025337, 18025363-18025381, 18025410-18025433, 18025450-18025476, 18025495-18025496, 18025501-18025505, 18025510, 18025536-18025551, 18025562-18025584, 18025619, 18025638-18025657, 18025675-18025681, 18027797-18027801, 18027873-18027879, 18029661-18029702, 18029766-18029770, 18039907-18039913, 18039999, 18043898-18043904, 18043975-18043979, 18044394, 18044971-18044994, 18045393-18045420, 18045433, 18045475-18045479, 18046077-18046084, 18046134, 18046909, 18047063, 18047066, 18047184-18047196, 18047213-18047241, 18049329-18049331, 18054821, 18057090-18057092, 18057095-18057097, 18057112, 18058520-18058521, 18061100-18061108, 18061111, 18061143-18061152, 18070969-18070971, 18082084-18082087, 18082092-18082094
309UNC119170.7593360995850617472326875041-26875045, 26875098, 26875106, 26879359-26879444, 26879472-26879517, 26879541-26879575
310NEK8170.9543049543049595207927055875-27055878, 27064518, 27064866-27064885, 27064989, 27067529-27067530, 27067537, 27067592, 27067595, 27067904, 27067911, 27067922, 27067948-27067979, 27067987, 27068161, 27068164, 27068236-27068237, 27068539-27068561, 27069005
311SLC6A4170.9793977812995239189328543171, 28543176-28543196, 28543218-28543234
312HNF1B170.9247311827957126167436091627, 36091632, 36093714, 36099444-36099453, 36099456, 36104532-36104565, 36104626-36104666, 36104680-36104704, 36104734-36104742, 36104848, 36104853, 36104857
313TCAP170.2777777777777836450437821614-37821618, 37821625, 37821637, 37821641-37821658, 37821692-37821722, 37821969-37822126, 37822152-37822174, 37822178-37822218, 37822263-37822267, 37822273-37822341, 37822350-37822361
314KRT14170.91331923890063123141939739493-39739515, 39739575-39739579, 39741304-39741309, 39742602-39742648, 39742824, 39742976-39742982, 39743006-39743030, 39743078-39743086
315KRT16170.980309423347428142239766280-39766281, 39768490-39768496, 39768740-39768746, 39768897-39768908
316KRT17170.89068514241724142129939776977, 39779218-39779221, 39779284, 39780330-39780333, 39780356-39780377, 39780394-39780398, 39780434-39780440, 39780496-39780535, 39780582-39780591, 39780599-39780600, 39780627-39780648, 39780684-39780690, 39780725-39780740, 39780761
317JUP170.9789991063449547223839912016-39912019, 39912024-39912030, 39913713-39913718, 39915027, 39919356, 39919418-39919424, 39919502, 39920996, 39927900-39927904, 39927984-39927996, 39928050
318FKBP10170.72784448256146476174939969308-39969309, 39969316-39969322, 39969327-39969338, 39969345-39969357, 39969360, 39969381-39969425, 39969471-39969495, 39969500, 39973349, 39973396-39973400, 39973407-39973418, 39973447-39973455, 39974341-39974387, 39974436-39974513, 39974520-39974530, 39974634-39974643, 39974670-39974690, 39974716, 39974723-39974730, 39975532-39975552, 39975612, 39975912, 39975916, 39976584, 39976675-39976693, 39976700-39976702, 39976707-39976709, 39977220-39977231, 39977263-39977264, 39977279-39977292, 39977306-39977329, 39977909, 39977920-39977924, 39977930, 39977933, 39978057, 39978062, 39978475-39978487, 39978601-39978627, 39978646-39978660
319STAT5B170.975888324873157236440359615, 40359669-40359675, 40369482, 40371359, 40371397-40371398, 40371406, 40371415, 40371432-40371453, 40371748, 40371780-40371799
320NAGLU170.9413082437276131223240688325-40688330, 40688344, 40688399-40688400, 40688419-40688421, 40688465, 40688488-40688512, 40688521-40688558, 40688582-40688622, 40688648-40688660, 40689473
321WNK4170.99946409431942373240932896-40932897
322BRCA1170.999469496021223565541219647, 41223069, 41226362
323NAGS170.9626168224299160160542082180-42082182, 42082237-42082245, 42082248-42082256, 42083198, 42083203-42083209, 42083408, 42083414, 42083419, 42083424-42083426, 42083476-42083492, 42083499-42083502, 42083506-42083508, 42083968
324SLC4A1170.9930555555555619273642331988-42331989, 42333071, 42334899-42334900, 42335074-42335087
325GRN170.90740740740741165178242426579, 42426610-42426619, 42426666-42426668, 42427817-42427837, 42428138-42428143, 42428785-42428792, 42428920, 42428926-42428939, 42429087-42429092, 42429402-42429409, 42429424, 42429544-42429546, 42429597, 42429608, 42429709-42429721, 42429736, 42429865-42429869, 42429900-42429905, 42430029-42430055, 42430075-42430093, 42430153-42430162
326ITGA2B170.80897435897436596312042451746-42451786, 42451825-42451838, 42452043-42452083, 42452103-42452128, 42452366, 42452376, 42452379, 42452416-42452444, 42452454, 42452459, 42452477-42452479, 42452960-42452975, 42453012-42453015, 42453045-42453084, 42453266-42453270, 42453342, 42453511-42453513, 42453517, 42453701-42453744, 42455126-42455130, 42455739-42455743, 42455747, 42456032, 42457090-42457091, 42460861-42460888, 42460900-42460913, 42460942-42461013, 42461050-42461072, 42461276-42461298, 42461467-42461474, 42461491-42461497, 42461500, 42461910-42461924, 42462327, 42462543, 42462576-42462577, 42462670-42462676, 42462686-42462703, 42462919-42462930, 42462969-42463001, 42463043-42463052, 42463064, 42463431-42463437, 42466779-42466796, 42466832-42466839
327GFAP170.999230177059281129942992553
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382LDLR190.961403508771931128511240339-11240346, 11241962-11241963, 11242126
383PRKCSH190.9527410207939575158711546939-11546968, 11548895-11548896, 11557964-11557973, 11558341-11558358, 11558546-11558549, 11559763, 11560218-11560227
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385GCDH190.999240698557331131713007034
386CACNA1A190.87541550325755937752113318128-13318130, 13318139-13318158, 13318169-13318197, 13318230-13318245, 13318251-13318410, 13318432-13318455, 13318464-13318517, 13318531-13318824, 13318830-13318867, 13319570-13319574, 13319597-13319662, 13319692-13319697, 13319712, 13320180-13320187, 13335522-13335533, 13335555-13335557, 13335560-13335586, 13338245-13338249, 13338308-13338309, 13338312, 13409399-13409403, 13409462-13409467, 13409497-13409521, 13409584-13409594, 13409845-13409888, 13616876-13616901, 13616968-13617013
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389SLC5A5190.86024844720497270193217983129-17983149, 17983260-17983263, 17983290-17983316, 17983337-17983377, 17984947, 17984949, 17984963, 17985303-17985304, 17985473, 17986761-17986781, 17986867-17986871, 17988564, 17988843-17988848, 17991690, 17991694-17991700, 17992802-17992813, 17992976-17992981, 17992994-17992998, 17993011-17993028, 17994526-17994555, 17994659, 17994705, 17994786, 17994796-17994801, 17994812-17994813, 17999162-17999196, 17999229, 17999242, 17999247-17999248, 17999253-17999261
390IL12RB1190.89693313222725205198918177384, 18177442, 18177461-18177468, 18180370-18180376, 18180431, 18180434-18180437, 18180470, 18182957-18182958, 18182998-18183005, 18183089-18183090, 18183126, 18184336, 18186575, 18186583-18186588, 18186630, 18186636-18186640, 18187107-18187114, 18188328, 18188336-18188357, 18188360-18188368, 18191730-18191736, 18191768-18191811, 18197570-18197633
391COMP190.77044854881266522227418893727, 18895084-18895093, 18896483-18896498, 18896537, 18896547, 18896560-18896563, 18896566-18896567, 18896573-18896582, 18896649, 18896786-18896810, 18896841-18896865, 18897097, 18898300-18898329, 18899028-18899042, 18899057-18899058, 18899069-18899070, 18899076, 18899095-18899108, 18899219-18899240, 18899263, 18899267-18899281, 18899292, 18899297, 18899300-18899304, 18899411-18899494, 18899502-18899509, 18899544-18899559, 18899701-18899711, 18899995-18900020, 18900033, 18900069-18900076, 18900784-18900785, 18900788-18900822, 18900836-18900842, 18900858-18900886, 18900912, 18900915-18900923, 18901401-18901422, 18901659-18901663, 18901697, 18902000-18902012, 18902027-18902064
392CEBPA190.54596100278552489107733792383-33792394, 33792482-33792494, 33792584-33792612, 33792646, 33792737-33792740, 33792751-33792789, 33792795-33792804, 33792846-33793061, 33793134-33793201, 33793212, 33793225-33793320
393SCN1B190.969021065675342580735521725-35521730, 35521746-35521764
394HAMP190.956862745098041125535773496-35773506
395MAG190.87878787878788228188135786524, 35786786-35786808, 35790488-35790489, 35790495-35790500, 35790531-35790566, 35790593-35790597, 35790614-35790659, 35790686-35790724, 35790736, 35790743-35790753, 35791064-35791086, 35791107, 35791111-35791123, 35791135, 35791139-35791141, 35791172, 35791177-35791186, 35791189-35791190, 35793577, 35802892-35802894
396PRODH2190.9497206703910681161136290973-36291006, 36291119-36291124, 36297360-36297379, 36297407-36297414, 36297694-36297706
397TYROBP190.5398230088495615633936398132-36398142, 36398348-36398371, 36398380-36398418, 36398430, 36398463-36398482, 36399070-36399130
398SDHAF1190.6580459770114911934836486177-36486185, 36486217-36486221, 36486225-36486232, 36486235, 36486238, 36486242, 36486254-36486272, 36486312-36486351, 36486406, 36486409, 36486417, 36486465-36486476, 36486505-36486524
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400RYR1190.948204008731897831511738931394-38931395, 38931401-38931402, 38931433-38931434, 38931444, 38931488-38931504, 38937381, 38939305, 38979822, 38980004, 38980010-38980011, 38983147-38983149, 38983155, 38983228, 38985152-38985158, 38985235, 38986870, 38986898-38986929, 38987066, 38987079, 38987119, 38987147-38987170, 38987500-38987553, 38990338, 38990344, 38990350, 38990367-38990370, 38990432-38990435, 38990442-38990447, 38990458, 38993177, 38993240, 38998423, 38998427, 39003057-39003060, 39055600-39055603, 39055612-39055646, 39055655, 39055684-39055695, 39055702-39055705, 39055711-39055732, 39055755-39055879, 39055900-39056083, 39056138-39056141, 39056156-39056158, 39056169-39056170, 39056184-39056258, 39056270-39056353, 39075583-39075605, 39075619, 39075624-39075625, 39075641, 39075659-39075671, 39075696-39075698, 39075707, 39076606
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402DLL3190.93968766828218112185739993456, 39993461, 39993527-39993568, 39993614-39993638, 39994824-39994841, 39994866-39994879, 39997821-39997826, 39998026-39998029, 39998045
403PRX190.9936160510715928438640909678-40909681, 40909694, 40909709-40909711, 40909750-40909769
404TGFB1190.9906223358908811117341854258, 41854314-41854317, 41858921, 41858926-41858930
405BCKDHA190.9506726457399166133841919986, 41925163-41925166, 41925170-41925175, 41928085-41928091, 41928199, 41928209, 41928227-41928231, 41928236, 41928652, 41929009-41929011, 41929023-41929027, 41929037-41929039, 41929052-41929053, 41929064-41929066, 41930369, 41930421, 41930430-41930436, 41930448-41930455, 41930495, 41930498-41930502
406ATP1A3190.9956498096791716367842471002, 42471005-42471011, 42471320-42471321, 42471357, 42471362-42471365, 42471382
407ETHE1190.968627450980392476544012096-44012115, 44012980-44012983
408BCAM190.939586645469114188745312382-45312455, 45314524, 45322860-45322861, 45323986, 45324023-45324044, 45324055, 45324061, 45324070-45324079, 45324177-45324178
409APOE190.941299790356395695445411933-45411963, 45412210-45412217, 45412256, 45412364-45412379
410BLOC1S3190.5582922824302126960945682558-45682601, 45682652-45682699, 45682721, 45682737-45682741, 45682748-45682753, 45682757, 45682797, 45682800-45682803, 45682808-45682814, 45682834, 45682841-45682847, 45682878-45682880, 45682897-45682937, 45682982-45683005, 45683028-45683072, 45683093-45683114, 45683155-45683163
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412SIX5190.455405405405411209222046268759-46268762, 46268803, 46268811, 46268817-46268828, 46268849-46268877, 46268890-46268892, 46268904-46268951, 46268966-46268987, 46269019, 46269052-46269080, 46269088-46269098, 46269116, 46269123-46269128, 46269144-46269150, 46269164-46269194, 46269221-46269223, 46269231, 46269261, 46269282-46269283, 46269291, 46269307-46269314, 46269608-46269609, 46269639-46269690, 46269718-46269752, 46269763-46269770, 46269813-46269845, 46269865-46269919, 46269936-46269987, 46270016-46270032, 46270063-46270074, 46270104-46270121, 46270142-46270160, 46270186-46270202, 46270253-46270301, 46270322-46270413, 46271310-46271324, 46271344-46271356, 46271365-46271417, 46271425-46271428, 46271464-46271509, 46271572-46271620, 46271643-46271761, 46271786, 46271798-46271923, 46271942-46271986, 46272007-46272041, 46272044, 46272053, 46272065-46272082
413DMPK190.8021164021164374189046273778-46273794, 46273849-46273871, 46273877-46273898, 46274235-46274318, 46278235-46278248, 46280622-46280628, 46280769-46280772, 46280834-46280840, 46280843-46280848, 46281012, 46281042-46281046, 46281424-46281448, 46281475-46281478, 46281776-46281779, 46281790-46281797, 46281809, 46281836-46281867, 46281883-46281894, 46282553, 46282556, 46282601, 46282604-46282605, 46282609-46282617, 46283110-46283113, 46283124-46283125, 46285451-46285465, 46285523-46285550, 46285576-46285610
414FKRP190.38172043010753920148847258708-47258739, 47258791-47258802, 47258808-47258810, 47258814-47258816, 47258829-47258859, 47258912-47258919, 47258942-47258977, 47259008-47259035, 47259038-47259050, 47259060-47259101, 47259104-47259145, 47259154, 47259168-47259191, 47259206, 47259213, 47259216-47259224, 47259250-47259277, 47259282-47259310, 47259333-47259364, 47259383-47259527, 47259554-47259558, 47259561-47259582, 47259588-47259594, 47259602-47259769, 47259795-47259801, 47259811-47259854, 47259918, 47259923-47259938, 47259962-47259972, 47259997-47260003, 47260006-47260023, 47260028-47260062, 47260084-47260091, 47260101, 47260137-47260157, 47260167-47260195
415DBP190.3394683026584964697849134094-49134116, 49134125-49134137, 49134161-49134211, 49134224, 49134243-49134272, 49136825-49136912, 49138837-49139044, 49139052-49139159, 49139172, 49139177-49139185, 49139188-49139228, 49140179-49140251
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417FTL190.850378787878797952849468805, 49468854-49468866, 49469027-49469028, 49469076, 49469138-49469173, 49469591-49469608, 49469870-49469875, 49469987-49469988
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419MED25190.77807486631016498224450321599-50321673, 50321682-50321688, 50321828-50321858, 50322429-50322431, 50322447, 50322513-50322516, 50332290, 50333186-50333205, 50333774-50333784, 50333853-50333855, 50334083-50334085, 50334095, 50334098, 50334110-50334117, 50334123-50334144, 50335373-50335414, 50338243-50338270, 50338310, 50338400-50338402, 50338418-50338434, 50338791-50338802, 50338829, 50338835-50338838, 50338984-50338988, 50339015-50339071, 50339177-50339202, 50339485-50339558, 50339564-50339565, 50339568, 50339586-50339603, 50339633, 50340106-50340117, 50340138, 50340141, 50340192
420PNKP190.9540229885057572156650364948-50364951, 50365641-50365647, 50365795-50365820, 50370319-50370325, 50370395, 50370399, 50370411-50370415, 50370419-50370437, 50370459-50370460
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422KCNC3190.494283201407211150227450823526-50823529, 50823544-50823546, 50823556-50823583, 50823850-50823865, 50823984-50824023, 50826249-50826281, 50826290, 50826304-50826351, 50826372, 50826376, 50826382-50826481, 50826491-50826506, 50826519-50826545, 50826556-50826557, 50826607, 50826614, 50826622-50826623, 50826626-50826628, 50826645, 50826653, 50826657, 50826671-50826693, 50826855-50826860, 50826871-50826876, 50826906-50826918, 50826985, 50826989-50826990, 50827030-50827054, 50827175-50827188, 50827213-50827222, 50831478-50831481, 50831489, 50831514-50831598, 50831621-50831677, 50831681-50831693, 50831712, 50831717-50831752, 50831763-50831765, 50831770-50831774, 50831777-50831780, 50831790-50831861, 50831879-50832025, 50832036-50832054, 50832067-50832339
423ETFB190.973102785782928104151857404-51857431
424NLRP12190.86785938480854421318654297303-54297328, 54299122-54299126, 54299155-54299167, 54301497-54301510, 54301640-54301641, 54301656-54301658, 54304546-54304582, 54304617-54304651, 54307287-54307291, 54307318-54307339, 54308554-54308557, 54308597-54308599, 54308644, 54308646-54308651, 54310767-54310771, 54310826-54310837, 54310879-54310881, 54312866-54312912, 54312925, 54312938, 54312990-54313000, 54313068-54313086, 54313170-54313193, 54313586, 54313589-54313594, 54313634-54313635, 54313641-54313650, 54313660-54313681, 54313707-54313708, 54313783-54313800, 54313861-54313864, 54313965-54313983, 54314097, 54314105-54314118, 54314123, 54314345-54314351, 54314380-54314392, 54314420-54314421
425PRPF31190.83133333333333253150054621828-54621835, 54627942-54627955, 54629941-54629954, 54631495-54631503, 54631514-54631515, 54631538-54631547, 54631569-54631575, 54631690-54631724, 54631745-54631752, 54632432-54632507, 54632532-54632544, 54632647-54632677, 54632704-54632712, 54632730-54632745, 54634837
426TSEN34190.9903536977492993354695216, 54695319-54695322, 54695369-54695372
427NLRP7190.9775208734746370311455450942-55450948, 55451167-55451216, 55451241-55451252, 55452962
428TNNT1190.470215462610941878955644283-55644291, 55644295, 55644300-55644304, 55644311, 55644318, 55644322-55644328, 55645255-55645295, 55645434-55645477, 55645493-55645524, 55648471-55648518, 55649346-55649399, 55649408-55649442, 55652251-55652328, 55652575, 55652580-55652604, 55652611, 55652631-55652637, 55652641, 55653270-55653271, 55658051-55658075
429TNNI3190.7733990147783313860955663226-55663228, 55665432-55665435, 55665442, 55665487-55665494, 55665509, 55665512, 55665545-55665565, 55666109-55666125, 55666128, 55666145, 55666172, 55666177-55666192, 55667594, 55667598, 55667610-55667611, 55667688, 55667691-55667700, 55668418-55668427, 55668434-55668471
430AURKC190.9989247311828193057746734
431TPO20.90114204139927728021426818-1426823, 1481114-1481116, 1497766, 1497776, 1520655-1520754, 1544366-1544495, 1546193-1546209, 1546220-1546222, 1546225, 1546230-1546243, 1546246
432KLF1120.9857050032488622153910183844-10183847, 10183868-10183885
433MYCN20.91469534050179119139516082311-16082342, 16082368-16082392, 16082435-16082447, 16082542-16082546, 16082593-16082606, 16082782, 16082839-16082861, 16082890, 16082893-16082894, 16082905-16082907
434POMC20.99129353233831780425384419-25384420, 25384425, 25384431-25384434
435HADHA20.9947643979057612229226414148-26414155, 26415235, 26462009-26462011
436OTOF20.776109442776111342599426693504-26693539, 26695410-26695416, 26695479, 26695496, 26695509-26695517, 26696029, 26696056, 26696137-26696147, 26696333-26696351, 26696358, 26696369-26696370, 26696379-26696392, 26696860-26696861, 26696873-26696931, 26696953, 26696957-26696978, 26697381-26697513, 26697533-26697542, 26698270-26698286, 26698328, 26698345, 26698357-26698361, 26698804-26698811, 26698864-26698893, 26698996-26699046, 26699060, 26699065, 26699073-26699076, 26699091-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700306, 26700316-26700328, 26700333-26700374, 26700528-26700529, 26700538, 26700542-26700545, 26700554-26700560, 26700584-26700594, 26700596-26700611, 26702132-26702154, 26702180-26702186, 26702341-26702344, 26702354-26702492, 26703071-26703083, 26703654-26703669, 26703675, 26703679-26703685, 26703753-26703754, 26703761-26703767, 26703770-26703776, 26703781-26703782, 26703794-26703805, 26703847, 26703868, 26705274-26705292, 26705331-26705341, 26705349-26705353, 26705381-26705408, 26705430-26705456, 26706410, 26706421, 26707355-26707370, 26707375, 26707381, 26707416-26707422, 26712079-26712086, 26712148-26712163, 26712596-26712608, 26739374-26739377, 26741887-26741895
437MPV1720.9698681732581653127535942-27535957
438XDH20.9965017491254414400231571191-31571204
439SPAST20.99675850891416185132289068-32289073
440CYP1B120.90134803921569161163238301552, 38301771, 38301840-38301868, 38301988-38301993, 38302025-38302026, 38302031, 38302038, 38302174-38302180, 38302191-38302231, 38302256-38302296, 38302390, 38302399-38302402, 38302412-38302437
441SOS120.999250374812593400239222320, 39278298, 39283867
442ABCG520.92893660531697139195644055132-44055178, 44058908-44058911, 44058943-44058950, 44058973-44058994, 44059163-44059209, 44065045-44065050, 44065691-44065695
443ABCG820.9629080118694475202244079996-44079997, 44080000-44080002, 44099189-44099194, 44099364-44099372, 44099379-44099381, 44099385-44099387, 44099433-44099445, 44101118, 44102369-44102370, 44102393-44102421, 44102478-44102481
444LRPPRC20.999522102747912418544222947, 44222950
445SIX320.996996996997399945169430-45169432
446EPCAM20.936507936507946094547596651-47596710
447MSH220.9800356506238956280547630343-47630396, 47630502-47630503
448MSH620.96252755326965153408348010411-48010458, 48010464-48010510, 48010516-48010561, 48010564-48010567, 48010614, 48010620-48010626
449ATP6V1B120.9714656290531844154271163085-71163086, 71163138, 71163172-71163175, 71163185-71163187, 71192133-71192166
450DYSF20.97924528301887132636071801445-71801447, 71825773-71825814, 71827903-71827918, 71829928, 71838461-71838476, 71838597, 71839810-71839812, 71839834, 71839842, 71839851-71839854, 71840518-71840536, 71847677-71847701
451SPR20.7442748091603120178673114562-73114567, 73114581-73114600, 73114618-73114671, 73114689-73114704, 73114725-73114770, 73114789-73114821, 73114840-73114865
452ALMS120.9993602047344881250473827996-73828002, 73828342
453SLC4A520.999707088459291341474489314
454MOGS20.999204455051712251474692160, 74692360
455GGCX20.987703118137928227785785688-85785690, 85785723, 85787984-85787988, 85787992-85788006, 85788018, 85788021, 85788521, 85788534
456REEP120.9950495049505360686564616-86564618
457EIF2AK320.9919427036705527335188926730-88926735, 88926743-88926754, 88926773-88926781
458TMEM12720.884239888423998371796919589-96919591, 96930886-96930912, 96930966-96930978, 96931004-96931024, 96931070-96931077, 96931108-96931118
459ZAP7020.72741935483871507186098340515-98340557, 98340565, 98340578-98340593, 98340603-98340604, 98340620-98340621, 98340635-98340637, 98340646-98340670, 98340676-98340708, 98340748-98340759, 98340763-98340813, 98340821-98340846, 98340852-98340888, 98341560-98341562, 98341620-98341678, 98341695, 98349346, 98349364-98349365, 98349373, 98349397-98349398, 98349406, 98349454-98349464, 98349469, 98349625-98349649, 98349659-98349670, 98349760-98349779, 98350995-98350999, 98351004-98351007, 98351016, 98351025, 98351056-98351093, 98351151-98351175, 98351741, 98351776-98351800, 98351844-98351860
460RANBP220.967958656330753109675109336063-109336073, 109336093, 109336096, 109336131-109336134, 109347230-109347232, 109347874-109347894, 109347929-109347930, 109352023-109352043, 109352076-109352105, 109352124-109352147, 109352188, 109357109-109357130, 109363167-109363203, 109365376-109365394, 109365423-109365438, 109367720-109367732, 109367868-109367889, 109368104-109368110, 109369454-109369455, 109383672-109383684, 109384628-109384667
461MERTK20.99863000112656319-112656320, 112656323-112656324, 112656335, 112656344
462PAX820.9948263118994871353113994204-113994210
463GLI220.962192816635161804761121555023-121555026, 121708819-121708820, 121708843-121708846, 121708865-121708914, 121708938-121708944, 121708959-121708961, 121708988-121708992, 121709001-121709006, 121712955-121712957, 121712960, 121712990-121713000, 121728146-121728148, 121728153-121728154, 121746299-121746315, 121746392, 121746516-121746520, 121746612-121746613, 121746657-121746693, 121747014-121747017, 121747165-121747168, 121747335-121747338, 121747350, 121747471-121747474
464BIN120.94781144781145931782127806119-127806122, 127808010-127808013, 127808378-127808382, 127808453, 127808457, 127808742, 127811493, 127811496, 127811574, 127811581-127811588, 127815049-127815066, 127819696, 127827623, 127827626-127827629, 127827662-127827666, 127828383, 127828389-127828391, 127864445-127864456, 127864499-127864519
465PROC20.794372294372292851386128178859-128178876, 128178903-128178905, 128178964-128178974, 128180610-128180681, 128180693-128180736, 128180872, 128180874-128180881, 128180907-128180941, 128183664-128183680, 128183728-128183766, 128183771, 128184691-128184695, 128184745-128184752, 128186172, 128186182-128186186, 128186281-128186283, 128186309, 128186420-128186423, 128186462-128186470
466CFC120.6875210672131279623-131279657, 131279681, 131279688, 131280363-131280407, 131280443-131280477, 131280742-131280746, 131280797-131280846, 131285304, 131285346, 131285372-131285378, 131285381-131285382, 131285385-131285386, 131285403-131285427
467LCT20.9998271092669415784136558243
468NEB20.99994993491539119974152402512
469SCN2A20.9998338318378216018166245230
470GALNT320.9963196635120971902166626899-166626905
471SCN9A20.999494438827135934167099026-167099028
472HOXD1320.9912790697674491032176957683-176957690, 176957695
473DFNB5920.9990557129367311059179319067
474TTN20.9998802968637812100248179392351, 179392355-179392356, 179392359, 179580238-179580240, 179587819-179587823
475COL3A120.9945466939332244401189871663-189871686
476COL5A220.9997777777777814500189975086
477HSPD120.97212543554007481722198351835-198351882
478CASP820.9993815708101411617202149613
479BMPR220.9993583573949323117203242243, 203242262
480NDUFS120.9986263736263732184207018400-207018402
481BCS1L20.995238095238161260219526537, 219526543-219526547
482CYP27A120.9943609022556491596219646920, 219646924, 219646933, 219646948, 219646956-219646960
483WNT10A20.97368421052632331254219745718-219745719, 219745746, 219745757-219745760, 219757547-219757550, 219757602, 219757607-219757611, 219757867, 219757879-219757882, 219757896-219757901, 219757904, 219757908-219757911
484DES20.9943382873319281413220283199, 220283208, 220283223, 220283570, 220283591, 220283660, 220283709-220283710
485OBSL120.887014584431566435691220416294-220416298, 220416343-220416382, 220416404-220416457, 220416484-220416499, 220416834-220416853, 220416869-220416931, 220417258-220417272, 220417298-220417304, 220417339, 220417342-220417349, 220417363, 220417376, 220417379, 220417389-220417418, 220417604, 220417607, 220417613-220417645, 220417659-220417672, 220417746, 220419438-220419444, 220420818, 220422946-220422951, 220424027-220424029, 220427202-220427203, 220427391, 220432534, 220435244-220435249, 220435346-220435347, 220435351, 220435360-220435382, 220435401-220435405, 220435500-220435527, 220435606, 220435610-220435622, 220435627, 220435638, 220435641-220435673, 220435693-220435714, 220435734-220435812, 220435826-220435845, 220435851-220435880, 220435890-220435933, 220435954
486PAX320.97562582345191371518223161704-223161738, 223163294-223163295
487COL4A320.9996010373030125013228163477, 228176575
488SLC19A320.98859825620389171491228563529-228563530, 228563974-228563988
489CHRND20.884169884169881801554233390926-233390966, 233391243, 233391355, 233391367, 233393273, 233393591, 233394681, 233394686, 233394697-233394703, 233394728-233394735, 233394774, 233396070, 233396090-233396105, 233396158, 233396164-233396168, 233396265-233396284, 233396308, 233396354, 233398671-233398717, 233398749-233398754, 233398757-233398758, 233398786, 233398975-233398979, 233399886-233399895
490CHRNG20.99356499356499101554233404478, 233405412, 233409128, 233409230, 233409244-233409249
491COL6A320.9994755611495759534238249097-238249100, 238249554
492AGXT20.647158608990674161179241808283-241808329, 241808342-241808357, 241808408-241808447, 241808587-241808600, 241808619-241808642, 241808673-241808679, 241808687-241808712, 241808715-241808720, 241808742-241808756, 241808772-241808779, 241810061-241810080, 241810101-241810125, 241810766-241810773, 241810776, 241810782-241810843, 241812410-241812412, 241813396-241813433, 241813478-241813479, 241814545-241814548, 241814601, 241816973-241817000, 241817011-241817024, 241817030-241817035, 241818171
493D2HGDH20.658365261813545351566242674646, 242674659, 242674678, 242674681, 242674691, 242674696, 242674705-242674716, 242674743-242674745, 242674786-242674789, 242674834, 242674843-242674859, 242680467, 242680482, 242683177-242683193, 242689573-242689621, 242689634-242689653, 242689672-242689709, 242690675, 242690730, 242690739, 242690749-242690795, 242695307-242695310, 242695316-242695329, 242695335-242695337, 242695349-242695350, 242695355-242695376, 242695385-242695429, 242707125, 242707146-242707186, 242707201-242707384
494C20orf54200.99078014184397131410741784-741790, 744333, 744535-744539
495AVP200.761616161616161184953063344-3063365, 3063399, 3063404-3063428, 3063433, 3063441-3063448, 3063623-3063656, 3063666-3063683, 3063688, 3063771-3063775, 3063778-3063780
496PANK2200.990075890251021717133869787, 3870045-3870050, 3870055, 3870148-3870153, 3870214-3870216
497SNTA1200.87615283267457188151832000193, 32000214-32000232, 32000381-32000391, 32000406-32000426, 32000456-32000457, 32000469-32000484, 32031177-32031183, 32031218-32031259, 32031323-32031336, 32031342, 32031363-32031403, 32031414-32031426
498SAMHD1200.9824561403508833188135526230, 35526241-35526243, 35526275, 35526303, 35526311, 35526361-35526362, 35526843-35526862, 35540872, 35547828-35547830
499HNF4A200.9824561403508825142543052758-43052774, 43052815-43052822
500ADA200.90750915750916101109243252926-43252936, 43254217, 43255133-43255160, 43255224-43255225, 43257757-43257790, 43280216-43280240
501CTSA200.91516366065464127149744520213-44520267, 44520342-44520347, 44520559-44520579, 44523633-44523638, 44523680-44523684, 44523750-44523772, 44526356-44526359, 44526679-44526681, 44526734-44526737
502DPM1200.98978288633461878349562399-49562406
503SALL4200.9803921568627562316250400994-50400995, 50405475, 50406585-50406587, 50406833-50406836, 50407112-50407116, 50407204-50407212, 50407247-50407248, 50407288-50407290, 50407385-50407390, 50407777-50407782, 50408336-50408346, 50418818-50418827
504PCK1200.9909042268592817186956136613-56136617, 56137804-56137807, 56138129, 56138150-56138156
505GNAS200.1504065040650462773857415162-57415345, 57415354-57415358, 57415368-57415374, 57415387-57415389, 57415398-57415628, 57415639, 57415651-57415661, 57415667-57415669, 57415672-57415675, 57415686-57415693, 57415700-57415753, 57415775-57415862, 57415872-57415899
506GNAS200.655105973025051074311457428360-57428363, 57428393-57428398, 57428438-57428446, 57428454, 57428501-57428541, 57428612-57428621, 57428626, 57428629-57428637, 57428720, 57428739, 57428794-57428815, 57428837-57428877, 57428910-57428957, 57429045-57429048, 57429065-57429132, 57429139, 57429158, 57429196-57429223, 57429231-57429234, 57429259-57429288, 57429311-57429342, 57429350-57429372, 57429379-57429443, 57429455-57429666, 57429680-57429733, 57429737-57429744, 57429751, 57429760-57429765, 57429794-57429802, 57429809-57429835, 57429838-57429839, 57429843-57429909, 57429916-57429942, 57429961-57429996, 57430038-57430070, 57430077-57430085, 57430092-57430108, 57430129-57430160, 57430253, 57430258-57430262, 57430271-57430279, 57430297-57430348, 57430372-57430388
507COL9A3200.57810218978102867205561448417-61448494, 61448919-61448987, 61449870-61449899, 61450574-61450598, 61450606-61450633, 61451281-61451298, 61452533-61452568, 61453109-61453162, 61453468-61453516, 61453943-61453984, 61455825-61455843, 61456320-61456325, 61456341-61456373, 61457169-61457189, 61457556-61457609, 61458119-61458125, 61458147-61458172, 61458605-61458646, 61459275-61459276, 61460275-61460293, 61460831-61460834, 61460980-61461003, 61461139-61461170, 61461712-61461727, 61461869-61461915, 61461922-61461940, 61463522, 61463526-61463528, 61463534-61463541, 61467584-61467598, 61467630-61467646, 61468526-61468541, 61468584-61468590
508CHRNA4200.0148619957537151856188461978090-61978215, 61981005-61981482, 61981495-61982330, 61982347-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
509KCNQ2200.2008400152732093261962037997-62038167, 62038189-62038534, 62038547, 62038551-62038554, 62038558-62038661, 62038676-62038728, 62039766-62039814, 62039819-62039821, 62039872-62039889, 62044803-62044805, 62044828-62044926, 62045446-62045481, 62045538, 62045545-62045546, 62046256-62046347, 62050972-62050976, 62059720-62059731, 62059749-62059786, 62062715-62062722, 62065163, 62065179-62065217, 62065224-62065256, 62069978-62070043, 62070951-62070972, 62070986-62071061, 62073759-62073832, 62073838-62073884, 62076012-62076187, 62076591-62076717, 62078100-62078190, 62103521-62103816
510SOX18200.17835497835498949115562679519-62679607, 62679634, 62679638-62679645, 62679655-62679682, 62679687, 62679723-62679724, 62679730, 62679735-62679755, 62679786, 62679796, 62679836-62679874, 62679900-62679951, 62679957-62680066, 62680079-62680315, 62680512-62680869
511APP210.998702983138783231327542909-27542911
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637CYP21A260.82056451612903267148832006211-32006248, 32006278-32006279, 32006317, 32006337, 32006506, 32006560-32006573, 32006886, 32006945, 32006953, 32006957, 32007884, 32007889-32007904, 32007910, 32007913-32007918, 32007922, 32007932, 32008214, 32008234, 32008263, 32008339-32008346, 32008445-32008455, 32008653, 32008667-32008767, 32008783-32008831, 32008901-32008907
638TNXB60.945557388640116931272932009126-32009143, 32009211, 32009219, 32009571, 32009627-32009664, 32009676, 32009822-32009826, 32009884-32009890, 32009896-32009935, 32010089-32010130, 32010245-32010275, 32010321, 32010347-32010380, 32010488, 32010512, 32010515, 32010529-32010531, 32010728-32010735, 32010765-32010805, 32010821-32010827, 32010857, 32010997-32011009, 32011079-32011095, 32011214-32011270, 32011532, 32011784-32011785, 32011829, 32011878, 32011900, 32012200, 32012210, 32012217, 32012260-32012343, 32012376, 32012390, 32012394, 32012404-32012434, 32012479-32012488, 32012948-32012974, 32012982-32013027, 32013043-32013053, 32014059, 32014174, 32017056, 32023656-32023673, 32023874, 32023878, 32024398, 32024583, 32024597-32024600, 32025881-32025882, 32025890-32025891, 32025915-32025946, 32026007, 32026052-32026063, 32026077-32026085, 32026089-32026092, 32029175-32029181, 32029226-32029228, 32029420
639HLA-DQA160.951822916666673776832609126, 32609130, 32609139-32609153, 32610387-32610406
640HLA-DQB160.8129770992366414778632629124-32629173, 32629224-32629234, 32630025, 32632575-32632653, 32632694, 32632700, 32632711, 32632717, 32632818, 32632832
641COL11A260.999040491268475521133139506-33139507, 33159977-33159979
642SYNGAP160.9816468253968374403233388042-33388108, 33393630-33393634, 33393638, 33411372
643FANCE60.9801365611421532161135420393, 35420397-35420399, 35420483, 35420488-35420506, 35423578-35423582, 35423588, 35423595, 35430684
644TULP160.9570288520564870162935479967-35480014, 35480424-35480430, 35480621-35480635
645LHFPL560.99545454545455366035773452-35773454
646MOCS160.66248037676609645191139874182-39874184, 39874213, 39874230, 39874285-39874287, 39874368-39874375, 39874557, 39874638-39874659, 39874699, 39874732-39874739, 39876854, 39880080-39880083, 39880679-39880714, 39881107, 39881142-39881144, 39881171-39881172, 39881539-39881550, 39881559-39881577, 39883812-39883841, 39883866-39883893, 39883906, 39883919-39883959, 39883967, 39893422-39893589, 39895068-39895317
647PEX660.981991165477453294342934375, 42935202, 42936133-42936136, 42936191-42936198, 42936618, 42936670-42936671, 42936698, 42937462-42937466, 42946470, 42946473, 42946651-42946674, 42946768-42946771
648CUL760.999411418481463509743008378, 43008721-43008722
649RSPH960.980746089049341683143612860, 43612867, 43612874, 43612916-43612918, 43612921-43612930
650RUNX260.9814814814814829156645390460, 45390463, 45390466, 45390472, 45390475-45390498, 45390507
651MUT60.9897913892587723225349409553-49409560, 49409630-49409644
652PKHD160.99991820040911222551890110
653RIMS160.9830675329789386507972889289, 72889369-72889372, 72889482, 72889486-72889495, 72892081-72892095, 72892136, 72892281-72892292, 72892327-72892365, 72892373, 72892791-72892792
654OSTM160.9960199004975141005108395737-108395740
655GJA160.9939077458659771149121768922-121768928
656ENPP160.9989200863930932778132129305-132129306, 132129359
657TBP60.96960784313725311020170871014-170871022, 170871031-170871034, 170871037, 170871043-170871046, 170871054, 170871064-170871067, 170871070-170871073, 170871076, 170871079, 170871093, 170871098
658LFNG70.1315789473684299011402559496-2559927, 2564329-2564377, 2564856-2564921, 2564928-2564952, 2565048-2565072, 2565085-2565144, 2565161-2565201, 2565340-2565389, 2565397-2565399, 2565403, 2565878-2565887, 2565905-2565909, 2565940-2565973, 2565995, 2566009-2566043, 2566470-2566555, 2566780-2566846
659PMS270.9420625724217815025896013083-6013089, 6022473-6022513, 6026523, 6026775, 6026862-6026868, 6027027, 6027166, 6029435-6029457, 6045529-6045573, 6048628-6048650
660TWIST170.6978653530377718460919156567, 19156592-19156593, 19156608-19156622, 19156640-19156654, 19156661-19156664, 19156674-19156701, 19156712-19156726, 19156740-19156762, 19156789-19156832, 19156843-19156871, 19156901-19156904, 19156908, 19156935-19156937
661HOXA1370.75064267352185291116727239197-27239224, 27239282-27239289, 27239316-27239419, 27239445-27239593, 27239614, 27239617
662GHRHR70.9646226415094345127231008451-31008457, 31008522-31008551, 31008710, 31008784, 31009575, 31011628, 31013697-31013699, 31013706
663GLI370.96204933586338180474342004883-42004891, 42004897-42004907, 42004910, 42005098-42005099, 42005109-42005111, 42005116-42005119, 42005125-42005134, 42005157, 42005161-42005180, 42005298-42005304, 42005320, 42005539-42005544, 42005586-42005594, 42005598-42005600, 42005626-42005667, 42005804, 42005808, 42005820, 42005842, 42005868-42005903, 42006111-42006117, 42007199-42007202
664PGAM270.5459317585301834676244102414-44102422, 44102461-44102475, 44102518, 44102527, 44104431-44104444, 44104468-44104482, 44104499, 44104502-44104503, 44104536, 44104539, 44104542-44104579, 44104588, 44104598-44104611, 44104721, 44104724-44104755, 44104764-44104801, 44104810-44104824, 44104848-44104881, 44104897-44104899, 44104903-44104914, 44104929, 44104942-44104981, 44105006-44105010, 44105015-44105019, 44105027, 44105040-44105062, 44105104-44105126
665GCK70.76659528907923327140144184761, 44185126-44185129, 44185180-44185186, 44185197-44185199, 44185208-44185231, 44185241, 44185249, 44185270, 44185318-44185329, 44186062-44186074, 44186089, 44186109-44186127, 44186131-44186135, 44186203, 44187252-44187253, 44187290-44187314, 44187327-44187357, 44187376-44187396, 44189581-44189590, 44190573-44190577, 44190616-44190651, 44190670, 44191874-44191878, 44191900-44191904, 44191911-44191918, 44192015-44192024, 44192931-44192975, 44193029-44193035, 44193040-44193062
666CCM270.66067415730337453133545039939-45039962, 45108105-45108111, 45112375-45112382, 45113059-45113062, 45113080-45113087, 45113093-45113147, 45113157, 45113161, 45113166-45113170, 45113873-45113875, 45113884-45113930, 45113938-45113980, 45113994-45113996, 45115376-45115389, 45115395-45115415, 45115424-45115526, 45115551-45115656
667EGFR70.990641343242534363355086971-55086972, 55086992-55087004, 55087034-55087036, 55087043-55087058
668GUSB70.9805725971370138195665439396-65439402, 65439530-65439555, 65444742-65444743, 65447070-65447072
669ASL70.33835125448029923139565546820-65546821, 65546884, 65546896-65546914, 65546954, 65546969-65546972, 65547391, 65547397-65547412, 65547883, 65547886-65547891, 65547897-65547899, 65547917-65547923, 65548064-65548125, 65548134-65548161, 65551572-65551649, 65551731-65551806, 65552321-65552322, 65552354-65552373, 65552735-65552741, 65552748-65552778, 65553794-65553908, 65554102-65554162, 65554263-65554320, 65554599-65554604, 65554617-65554654, 65554666-65554682, 65556993-65557030, 65557046-65557073, 65557548-65557559, 65557567-65557592, 65557602, 65557638-65557650, 65557755-65557899
670KCTD770.903448275862078487066094083-66094087, 66094117-66094195
671SBDS70.99468791500664475366453379-66453382
672NCF170.7939393939393917082572639819-72639821, 72639940-72639998, 72640027-72640050, 72643601-72643613, 72643658-72643687, 72644257-72644259, 72645869, 72645877-72645878, 72648699-72648701, 72648719-72648750
673ELN70.84367816091954340217573442518-73442599, 73457002-73457032, 73459600, 73462867, 73462882-73462884, 73466080-73466087, 73466120, 73466256-73466313, 73467495-73467510, 73467542, 73467551-73467555, 73467601, 73467618, 73471982-73471995, 73471998, 73474233-73474321, 73474471, 73474706-73474713, 73477642-73477653, 73477952, 73477961, 73477971, 73477993, 73478000, 73480277
674NCF170.82182438192668209117374193501-74193503, 74193662-74193680, 74197282-74197288, 74197317, 74197320, 74197339-74197368, 74197388, 74197938, 74199552, 74199607-74199613, 74202378-74202405, 74202417-74202432, 74202917, 74202920, 74202929-74202933, 74202936, 74202944-74202946, 74202953-74202960, 74202970, 74202989-74203048, 74203383-74203394, 74203434, 74203472
675POR70.176700930004891682204375608769-75608825, 75608838-75608855, 75608892-75608897, 75609685-75609724, 75609738-75609742, 75609749-75609755, 75609760-75609763, 75609770-75609806, 75610366-75610490, 75610835-75610924, 75611561-75611640, 75612838-75612954, 75613056-75613174, 75614095-75614276, 75614376-75614525, 75614897-75615167, 75615241-75615386, 75615477-75615559, 75615655-75615799
676HSPB170.902912621359226061875932060-75932071, 75932108-75932110, 75932148, 75932178-75932179, 75932198-75932228, 75932378-75932387, 75933178
677AKAP970.9998294097577621172491622227-91622228
678KRIT170.999095431931252221191852166, 91852169
679SLC25A1370.998522895125553203195775917, 95775925-95775926
680TFR270.99459684123026132406100238614-100238624, 100238653, 100238824
681RELN70.99961453213838410377103629800-103629803
682CFTR70.99189736664416364443117188733-117188753, 117188794-117188800, 117188842-117188844, 117188850, 117188874-117188877
683IMPDH170.95777777777778761800128034510, 128038520, 128038535-128038550, 128045866-128045867, 128045898-128045910, 128049826-128049868
684FLNC70.7885791146979717298178128470692-128470932, 128470953-128471043, 128475399-128475405, 128475472, 128475485-128475486, 128475510-128475526, 128475556-128475589, 128475596-128475628, 128477214-128477238, 128477254-128477311, 128477459-128477556, 128477577-128477602, 128477691-128477706, 128477734-128477736, 128477741, 128477744, 128477777, 128478041-128478042, 128478090-128478118, 128478355-128478358, 128478368-128478372, 128478392, 128478406-128478407, 128478410, 128478425, 128478436-128478437, 128478475-128478483, 128478657, 128478719-128478749, 128478760, 128478766-128478788, 128478799, 128478803, 128478814, 128478831, 128478837, 128478842-128478857, 128480100, 128480103-128480109, 128480124, 128480150, 128480202-128480214, 128480602, 128480608-128480627, 128480632, 128480647, 128480661-128480677, 128480684-128480689, 128480699, 128480709-128480711, 128480728, 128480914, 128480919, 128480995-128481016, 128481237-128481248, 128481258, 128481330-128481355, 128481379-128481417, 128481522, 128481543-128481552, 128481578, 128481588-128481603, 128481613, 128482285-128482290, 128482299, 128482312-128482316, 128482333-128482340, 128482343, 128482348, 128482402, 128482415-128482428, 128482629-128482659, 128482672-128482721, 128482747-128482752, 128482848-128482882, 128482907, 128482981-128482982, 128483336-128483373, 128483468, 128483482, 128483493-128483507, 128483524-128483541, 128483578-128483608, 128483630-128483631, 128483856-128483884, 128483909-128483950, 128484074-128484078, 128484127-128484165, 128484182, 128484185, 128484203, 128484732-128484745, 128484772-128484799, 128484904-128484905, 128484910, 128485002, 128485038-128485041, 128485084, 128485271-128485281, 128486136-128486137, 128486142, 128488121, 128488725-128488728, 128488900-128488917, 128488999, 128489235-128489253, 128489447-128489449, 128489475-128489481, 128489514, 128490469-128490474, 128490522, 128490961-128490965, 128490973, 128490991-128490994, 128491395-128491396, 128491606-128491615, 128492691-128492693, 128492697-128492698, 128492706-128492709, 128492720-128492722, 128492752, 128492778-128492793, 128492892-128492905, 128492973-128492996, 128492999, 128493002-128493004, 128493023-128493029, 128493059-128493061, 128493658-128493660, 128493799, 128493810, 128493823, 128493861, 128493867, 128494069, 128494120-128494123, 128494127, 128494134-128494135, 128494165-128494209, 128494235, 128494255, 128494490, 128494526-128494537, 128494542-128494544, 128494626, 128494629, 128494689, 128494714, 128494728, 128495319, 128495323, 128495330-128495332, 128496656, 128496689-128496690, 128496955-128496956, 128496961-128496962, 128496966, 128496969, 128498062-128498082, 128498227, 128498517
685ATP6V0A470.99326198969481172523138394425-138394432, 138394532-138394540
686BRAF70.99348109517601152301140624402-140624415, 140624421
687KCNH270.900574712643683463480150642480, 150644730, 150648665, 150648913, 150648920-150648921, 150654552, 150655147-150655232, 150655267-150655281, 150655319-150655323, 150655377, 150655380, 150655491-150655522, 150655542, 150655547-150655551, 150671799-150671801, 150671839-150671903, 150671909-150671949, 150671959, 150671978, 150671984, 150671990-150671991, 150671996, 150672004, 150672012, 150674926-150675001
688PRKAG270.99356725146199111710151272003-151272006, 151329218-151329219, 151372573-151372576, 151372607
689SHH70.317494600431979481389155595594-155595617, 155595626-155596075, 155596093-155596151, 155596156-155596159, 155596175-155596382, 155596393-155596420, 155599013-155599145, 155599185, 155599200-155599209, 155604517-155604520, 155604773-155604781, 155604785-155604788, 155604803-155604816
690MNX170.410447761194037111206156798245-156798251, 156798259-156798293, 156798304-156798313, 156798329-156798334, 156798350, 156798373-156798406, 156798425-156798446, 156798465-156798485, 156799197-156799198, 156799253-156799267, 156799270-156799283, 156802364-156802405, 156802419, 156802462-156802466, 156802504-156802510, 156802525-156802548, 156802558-156802596, 156802605, 156802620-156803044
691MCPH180.9988038277512325086264206, 6299606, 6299675
692GATA480.70504138449962392132911565822-11565850, 11565857-11565940, 11565949-11565961, 11565979-11566007, 11566076-11566120, 11566171-11566179, 11566184-11566264, 11566310-11566390, 11566401-11566420, 11566437
693SFTPC80.976430976430981459422021536-22021549
694CHRNA280.9911949685534614159027320500-27320504, 27321019-27321026, 27321032
695FGFR180.9918798213560720246338287240-38287255, 38287280-38287283
696ADAM980.9959349593495910246038854670-38854679
697ANK180.999473129610123569441559630-41559632
698THAP180.97975077881621364242693116, 42698167-42698178
699HGSNAT80.9502096436058795190842995640-42995643, 42995652-42995724, 42995733-42995735, 42995742, 42995745, 42995757, 43014165-43014168, 43014171-43014176, 43014185, 43024345
700CA280.99872286079183178386376318
701TMEM6780.999330655957162298894827550-94827551
702SLURP180312312143822561-143822694, 143823221-143823340, 143823746-143823803
703CYP11B280.95634920634921661512143993991, 143996177, 143996311-143996317, 143998549, 143998567-143998601, 143999103-143999106, 143999109, 143999196-143999201, 143999205-143999214
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705GPT80.0114017437961114741491145729688-145729758, 145729765-145729849, 145729987-145730076, 145730154-145730262, 145730381-145730503, 145730629-145730872, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732226, 145732293-145732383
706RECQL480.03225806451612935103627145736814-145736938, 145737064-145737172, 145737294-145737450, 145737527-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739474, 145739480-145739491, 145739573-145739746, 145739826-145739864, 145739872-145739909, 145740320-145740405, 145740412-145740418, 145740426-145740456, 145740534-145740626, 145740710-145740803, 145740813-145740841, 145741148-145741186, 145741204-145741274, 145741372-145741607, 145741613-145741621, 145741630-145741632, 145741637, 145741646-145742061, 145742070, 145742081-145742122, 145742141-145742143, 145742434-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168
707DOCK890.98317460317461066300332435-332436, 396788-396818, 396832-396872, 399190-399198, 399226, 399230-399233, 404922, 405061-405073, 407002-407004, 421032
708VLDLR90.981693363844394826222622190-2622203, 2622215-2622247, 2622250
709SLC1A190.99873015873016215754490743-4490744
710GLDC90.976493633692467230636645264-6645280, 6645342-6645343, 6645355-6645383, 6645462-6645482, 6645497-6645499
711B4GALT190.987468671679215119733167106-33167110, 33167137-33167146
712FANCG90.9855537720706327186935075005, 35075010-35075011, 35075522, 35075737-35075751, 35076762, 35078262, 35079198-35079201, 35079204, 35079208
713GRHPR90.99797365754813298737422824, 37424950
714FXN90.971563981042651863371650822-71650839
715ROR290.9678672316384291283294493224, 94495407, 94495411-94495425, 94495428, 94495433, 94495476, 94495479, 94495578-94495615, 94495662, 94712178-94712182, 94712188-94712189, 94712215-94712224, 94712232-94712245
716FBP190.997050147492633101797365841-97365843
717PTCH190.9903314917127142434498270495, 98270541-98270554, 98270592-98270604, 98270615-98270616, 98270620-98270630, 98270643
718FOXE190.903743315508021081122100616266-100616278, 100616305-100616334, 100616697-100616737, 100616744-100616751, 100616753, 100616756-100616766, 100616770-100616771, 100617044-100617045
719TGFBR190.98743386243386191512101867534-101867552
720ALAD90.997985901309162993116153123-116153124
721DFNB3190.99486049926579142724117168698-117168711
722CDK5RAP290.99771207321366135682123171417-123171423, 123253601-123253606
723GSN90.99191145168157192349124074726-124074729, 124074738, 124074742-124074747, 124088862, 124089734-124089740
724NR5A190.587301587301595721386127245037-127245060, 127245104-127245108, 127245145, 127245149, 127245152, 127245155-127245184, 127253433, 127253467, 127253470-127253472, 127253502, 127255361-127255377, 127255396-127255428, 127262369-127262402, 127262440, 127262463-127262511, 127262517-127262563, 127262593-127262621, 127262636-127262637, 127262643, 127262712-127262723, 127262750-127262827, 127262839-127262843, 127262846, 127262854-127262891, 127262925, 127262992, 127265358-127265451, 127265499, 127265573-127265574, 127265587-127265609, 127265626-127265660
725LMX1B90.900804289544241111119129376798-129376867, 129377662-129377667, 129377679-129377713
726STXBP190.99172185430464151812130374683-130374688, 130374691-130374699
727ENG90.97066262013151581977130578257, 130580635, 130580653, 130588019, 130616572-130616605, 130616615-130616634
728GLE190.9976156413924752097131267154-131267157, 131267166
729DOLK90.863945578231292201617131707988-131708032, 131708180, 131708208, 131708211-131708228, 131708301-131708307, 131708506, 131708510-131708520, 131708613-131708656, 131708891-131708928, 131709001, 131709035-131709036, 131709079-131709084, 131709089-131709090, 131709147-131709149, 131709234, 131709277, 131709389, 131709402-131709404, 131709411-131709421, 131709438, 131709472-131709486, 131709550, 131709557, 131709561-131709565
730TOR1A90.9899899899899910999132586189, 132586295, 132586354, 132586358-132586364
731ASS190.98062953995157241239133346245, 133364767-133364785, 133370336-133370339
732POMT190.947199265381081152178134379669-134379676, 134382790-134382793, 134394265-134394274, 134394339-134394344, 134394833-134394840, 134395482-134395500, 134396733, 134396737-134396739, 134396832-134396837, 134397434-134397448, 134397472-134397478, 134397568-134397570, 134397577, 134397595-134397600, 134398328-134398343, 134398441-134398442
733TSC190.98712446351931453495135771987-135772005, 135772832-135772845, 135772923-135772929, 135772997, 135776988-135776991
734CEL90.735358872743286012271135937416-135937417, 135937423, 135937439-135937455, 135939800-135939804, 135939916, 135939932, 135940093-135940101, 135940107, 135944192-135944220, 135944521-135944527, 135944583-135944589, 135945994-135946018, 135946517-135946521, 135946566-135946933, 135946940-135947026, 135947039-135947074
735SURF190.70099667774086270903136218835-136218837, 136218916-136218917, 136219322-136219340, 136219554, 136220633-136220671, 136220694, 136220698-136220721, 136221514-136221553, 136221596, 136221725-136221727, 136221767-136221769, 136221773-136221775, 136221778, 136221784-136221812, 136223124-136223148, 136223154-136223175, 136223276-136223329
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737DBH90.65048543689326481854136501543-136501572, 136501777, 136505011-136505042, 136505108, 136505114, 136508566-136508574, 136508681-136508697, 136509429-136509442, 136513013, 136513016, 136513044-136513065, 136513093-136513097, 136513108, 136516756-136516818, 136516825-136516899, 136517368-136517384, 136517390-136517403, 136518074-136518080, 136521645-136521770, 136522192-136522274, 136522280, 136522300, 136522330-136522351, 136523449, 136523464-136523566
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740LHX390.652605459057074201209139089220-139089252, 139089278-139089345, 139089364-139089367, 139089381-139089393, 139089398-139089400, 139089418-139089449, 139089507, 139089561-139089589, 139090499-139090509, 139090551, 139090554-139090559, 139090603, 139090639-139090652, 139090754, 139090757-139090781, 139090798, 139090809-139090859, 139090885-139090905, 139091542-139091544, 139091654-139091656, 139091680-139091682, 139091687, 139092428-139092437, 139092479, 139092483, 139092571-139092579, 139094792, 139094806, 139094814-139094885
741INPP5E90.1095607235142117231935139324127-139324195, 139324790-139324791, 139324802, 139324810-139324816, 139324847-139324859, 139324862-139324865, 139325454-139325505, 139325512-139325569, 139326276-139326437, 139326931-139327038, 139327408-139327444, 139327450-139327527, 139327607-139327731, 139328489-139328586, 139329192-139329315, 139333060-139333089, 139333096-139333247, 139333262-139333359, 139333367-139333871
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743AGPAT290.013142174432497826837139568204-139568379, 139569187-139569259, 139571037-139571132, 139571413-139571531, 139571543-139571588, 139571875-139572008, 139581628-139581809
744SLC34A390.1415481800140126159-140126170, 140126204-140126239, 140126542-140126555, 140126589-140126594, 140127038, 140127048-140127155, 140127246-140127379, 140127456-140127496, 140127505-140127509, 140127513-140127551, 140127563-140127567, 140127661-140127756, 140127781-140127813, 140127825-140127834, 140128085-140128134, 140128141-140128143, 140128155-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129069, 140129089-140129183, 140130404-140130868
745EHMT190.6430587631511413913897140513481-140513501, 140605419-140605482, 140611078-140611634, 140622825-140622827, 140622832, 140622835, 140622860-140622917, 140622942-140622948, 140638501-140638523, 140638529, 140669561-140669704, 140671070-140671109, 140671117-140671128, 140671132-140671140, 140671151-140671190, 140671199-140671221, 140671227-140671296, 140672355-140672429, 140672437-140672502, 140674087-140674091, 140674096-140674111, 140674149-140674169, 140676807, 140676810-140676812, 140676824, 140676833-140676849, 140685389-140685395, 140707469, 140708930, 140708939-140708941, 140728801-140728818, 140728834-140728838, 140728880-140728881, 140728894-140728916, 140728923, 140728929-140728930, 140728961-140728963, 140728966-140728976, 140729278-140729282, 140729285-140729303, 140729326-140729329, 140729334, 140729356-140729357, 140729382-140729383, 140729404-140729405
746SHOXX0.4971558589306442879591633-591909, 595361-595364, 595370, 595390-595419, 595432-595561
747CSF2RAX0.4352490421455973713051401597-1401635, 1404671-1404738, 1404761-1404784, 1404801, 1407698, 1407743, 1409230-1409340, 1409371-1409391, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422837, 1422848-1422860, 1422868, 1422905-1422912, 1424379-1424395, 1428306-1428307, 1428367-1428372
748ARSEX0.99943502824859117702852951
749GPR143X0.99529411764706612759733718-9733723
750SMSX0.995458673932795110121958954-21958958
751ARXX0.94020130254589101168925031447, 25031543-25031560, 25031647-25031684, 25031798-25031809, 25031877-25031908
752GKX0.992779783393512166230737540-30737551
753RPGRX0.709453599306161005345938144806-38144830, 38144873-38144882, 38144893-38144898, 38145055-38145056, 38145062-38145066, 38145103, 38145135-38145149, 38145167-38145200, 38145214-38145227, 38145250-38145879, 38145885-38145906, 38145922, 38145932-38146031, 38146091-38146120, 38146136, 38146139-38146197, 38146243-38146259, 38146362-38146368, 38146455-38146463, 38147137-38147139, 38147213-38147226
754NYXX0.89764868603043148144641332855-41332875, 41332885, 41332889-41332890, 41332947-41332962, 41333056-41333065, 41333109-41333116, 41333203-41333242, 41333286-41333290, 41333299-41333300, 41333342-41333345, 41333404, 41333446-41333452, 41333456-41333482, 41333544, 41333547-41333548, 41333551
755CACNA1FX0.9927536231884143593449061662, 49062200-49062205, 49063196-49063208, 49063475-49063476, 49065132-49065135, 49066150-49066157, 49066211-49066219
756FOXP3X0.9714506172839537129649107853-49107856, 49110500-49110507, 49110519, 49114781-49114786, 49114848-49114851, 49114910-49114923
757FGD1X0.99896049896053288654521829-54521831
758ARX0.996742671009779276366765159-66765164, 66766357-66766359
759OPHN1X0.999584889995851240967652717
760DLG3X0.997147514262437245469665119-69665125
761TAF1X0.9906722984864553568270586180-70586228, 70587982-70587983, 70587997, 70588000
762ATP7AX0.9953364423717521450377298232-77298252
763TIMM8AX0.993197278911562294100603538-100603539
764CUL4BX0.99598832968636112742119675519-119675525, 119694348-119694351
765XIAPX0.9953145917001371494123040945-123040951
766ZIC3X0.9978632478632531404136648985-136648987
767SOX3X0.9985085756897821341139586497-139586498
768FAM58AX0.9795918367346915735152864477-152864480, 152864483, 152864504, 152864513-152864521
769SLC6A8X0.72693920335435211908152954030-152954291, 152956759-152956770, 152956865-152956880, 152956950-152956951, 152957462-152957490, 152958625-152958630, 152958940-152958956, 152959000-152959003, 152959360-152959361, 152959603-152959645, 152959839-152959883, 152959988-152960032, 152960062-152960072, 152960233-152960256, 152960330-152960332
770ABCD1X0.780607685433424912238152990722-152990747, 152990772-152990786, 152990791, 152990801-152990802, 152990819-152990820, 152990861, 152990872-152990906, 152990915, 152990920-152990922, 152990935-152991029, 152991074-152991118, 152991143-152991155, 152991195-152991207, 152991249-152991284, 152991368-152991410, 152991441-152991443, 152991479-152991499, 152991532-152991557, 152991582-152991583, 153001637-153001645, 153001914-153001921, 153008675-153008678, 153008723, 153008731, 153008776-153008791, 153008981-153008988, 153009017, 153009027, 153009030, 153009080-153009108, 153009132-153009155, 153009168, 153009178-153009181
771L1CAMX0.98516163222046563774153128270-153128278, 153129460-153129462, 153129465-153129466, 153130128-153130133, 153130437, 153130441-153130444, 153133806, 153134131-153134134, 153135054-153135056, 153135551-153135559, 153136579-153136592
772AVPR2X0.95698924731183481116153171008, 153171058-153171064, 153171067-153171069, 153171073-153171083, 153171472-153171475, 153171735-153171749, 153171839-153171842, 153171850, 153171853, 153171862
773MECP2X0.98396793587174241497153363061-153363066, 153363072-153363081, 153363089-153363095, 153363100
774OPN1LWX0.97899543378995231095153409774-153409778, 153421807, 153424294-153424302, 153424317, 153424354-153424360
775OPN1MWX0.95433789954338501095153455586, 153455590, 153455598, 153458937, 153458975-153459010, 153461424-153461432, 153461447
776OPN1MWX0.97442922374429281095153492704, 153492708, 153492716, 153496096-153496103, 153498542-153498550, 153498565, 153498602-153498608
777FLNAX0.6739677744209525907944153577261, 153577351-153577380, 153577392-153577404, 153577731-153577735, 153577768-153577775, 153577786, 153577813-153577858, 153577881-153577884, 153577926-153577933, 153578102, 153578105-153578118, 153578188-153578195, 153578405-153578406, 153578410-153578463, 153578561-153578568, 153579325-153579328, 153579964-153579981, 153580265-153580271, 153580347-153580364, 153580554-153580562, 153580653-153580660, 153580681-153580724, 153580752-153580753, 153580952, 153580955, 153580960-153580965, 153581002-153581043, 153581140-153581173, 153581370, 153581377-153581396, 153581422-153581489, 153581519-153581523, 153581551, 153581554-153581555, 153581560-153581572, 153581714-153581733, 153581738-153581745, 153581749, 153581759-153581769, 153581800-153581801, 153581804-153581809, 153581813-153581822, 153581923-153581927, 153582340-153582343, 153582546-153582561, 153582612-153582616, 153582656-153582657, 153582993-153583035, 153583062-153583065, 153583070-153583079, 153583281-153583288, 153583316-153583343, 153583389-153583391, 153585626-153585636, 153585802-153585827, 153585918-153585927, 153585953-153585956, 153585981-153585991, 153586567-153586579, 153586588, 153586602-153586619, 153586632-153586637, 153586688-153586693, 153586833-153586847, 153586921-153586936, 153587468-153587469, 153587510-153587516, 153587520-153587522, 153587614-153587651, 153587677-153587699, 153587763-153587766, 153587852, 153587890-153587897, 153587944-153587947, 153587986-153588014, 153588100-153588123, 153588148-153588155, 153588195, 153588201-153588273, 153588358-153588434, 153588460-153588489, 153588535-153588545, 153588560, 153588592-153588598, 153588625-153588650, 153588830-153588880, 153588902-153588906, 153588914, 153588917-153588920, 153589676-153589678, 153589692, 153589734-153589742, 153589786-153589836, 153589862-153589877, 153589881-153589883, 153589886, 153590043-153590091, 153590095, 153590133-153590155, 153590347-153590394, 153590443-153590463, 153590487-153590505, 153590610, 153590639-153590641, 153590653-153590665, 153590668, 153590691, 153590696, 153590800-153590808, 153590834-153590880, 153590907-153590939, 153591029-153591069, 153591098-153591116, 153591135, 153591139-153591152, 153592415-153592423, 153592451-153592459, 153592505-153592506, 153592533, 153592652-153592653, 153592668-153592697, 153592729-153592734, 153592903-153592981, 153593016-153593026, 153593042-153593083, 153593211-153593263, 153593289-153593309, 153593318-153593325, 153593504-153593541, 153593578-153593581, 153593717-153593788, 153593791-153593792, 153593815-153593845, 153593853-153593854, 153594392-153594420, 153594443-153594472, 153594500-153594525, 153594574-153594583, 153594676-153594677, 153594722-153594728, 153594731, 153594754-153594759, 153594762-153594769, 153594778, 153594930-153594944, 153595006-153595007, 153595100-153595113, 153595163-153595179, 153595779-153595782, 153595794-153595805, 153595832-153595835, 153595899-153595901, 153596009-153596030, 153596056-153596074, 153596101-153596103, 153596246-153596247, 153596250, 153596258, 153596261-153596264, 153599241-153599247, 153599290-153599313, 153599380, 153599383, 153599391-153599585
778EMDX0.79869281045752154765153607845-153607926, 153608050-153608060, 153608087-153608104, 153608134-153608137, 153608142-153608143, 153608154, 153609113-153609115, 153609144, 153609261-153609272, 153609352-153609358, 153609416-153609423, 153609491-153609495
779TAZX0.84537389100127122789153640181-153640242, 153640426-153640458, 153640465, 153640468-153640470, 153640522-153640541, 153641581-153641582, 153641892
780G6PDX0.96336996336996601638153760301-153760305, 153760602, 153760606-153760607, 153760611, 153760645-153760673, 153761228-153761236, 153761876-153761884, 153762618-153762621
781IKBKGX0.9993169398907111464153788732
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4ANGPTL4-E40Khet unknown0.011Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
4ANGPTL4-T266Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3COL4A1-V7Lhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5PINK1-R279Hhet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.912 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5PINK1-A340Thet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
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
2DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2DPYD-M166Vhet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
2DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2MSH6-S459Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2MSH6-V878Ahet unknown0.006Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
2MEFV-R202Qhomozygous0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
2APOE-R176Chomozygous0.068Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2SEPT9-P145Lhomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5CST3-A25Thomozygous0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5APOA5-S19Whet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5CHRNA5-V134Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5CHRNA5-D398Nhomozygous0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PAX3-T315Khet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ERV3-R220*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1C19orf55-A325Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C19orf55-K365Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CXorf59-R424ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1COG1-E453Qhomozygous0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NOX1-D360Nhomozygous0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
1CEP290-K838Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CEP290-R557Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhomozygous0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1HTT-G893Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-V1064Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1NR_027052-Q90*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
1OPN1LW-I111Vhomozygous0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPN1LW-S116YhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GABRG2-I215VhomozygousUnknown
not reviewed
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
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
1ALX4-P102Shomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CPN2-Q509WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V417Ihomozygous0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KIAA1210-R405Hhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1KIAA1210-G103Vhomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1KCNH2-K897Thomozygous0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MTHFR-R594Qhet unknown0.040Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1MSR1-P275Ahomozygous0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1DBH-A318Shomozygous0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1NCRNA00255-P39Shifthomozygous0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
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-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GSTM1-K126EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC38A5-M451Thomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1GFI1-S36Nhomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MST1P9-A271ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MST1P9-S152Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1PLXNA3-R350Qhomozygous0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.604 (possibly damaging)
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CROCC-R274Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-R372Qhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.528 (possibly damaging)
1CROCC-A439Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1CROCC-N481Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-D586Hhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
1CROCC-R918Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-E1037Qhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
1CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-L1117Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VCAN-K349Ehet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-V767Lhomozygous0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75AKAP10-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
0.75CILP-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
0.75AURKA-I57Vhet unknown0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.625LRRC50-G505Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.625LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEURL4-R1406Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5NEURL4-R1372Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.115 (benign)
0.5TAF1C-G541Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5OR1E1-A143Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCG2-H244Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLCG2-R268Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLCE-M65Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GLCE-V597Ihet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5MYH11-A1241Thomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TK2-P33Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TK2-VV23LFhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP152-S54Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOA-F15Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOD2-P268Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ETFB-T245Mhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-P52Lhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIGLEC12-R528Whet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5SIGLEC12-Y494Shet unknown0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC12-T478Mhet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5SIGLEC12-H398Yhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.069 (benign)
0.5SIGLEC12-H217Qhet unknown0.885Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SIGLEC12-A82Vhet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC12-A66Shifthet unknown0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
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
0.5NAPSA-A310Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DHDH-E294Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-L296Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BCAM-T539Ahet unknown0.329Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5BCAM-Q581Lhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.79 (possibly damaging), Testable gene in GeneTests
0.5PEX10-T274Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.221 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAIR2-R76*het unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LAIR2-H112Qhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GKN2-D65Yhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SULT6B1-R143Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-K50Ehet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-V37Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SULT6B1-A23Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5ZIM3-K438*het unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZIM3-I379Vhet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.5ZIM3-N157Dhet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZIM3-L69Mhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5TPO-T725Phomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AX746649-Q132*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PNPO-R116Qhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-Y441Hhomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC4A1-D38Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
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)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5APOH-V266Lhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5APOH-S107Nhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM125A-D249Nhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ZNF792-N425Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF792-R177Qhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HKR1-V526Ihet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HKR1-T628Ihomozygous0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF271-S231Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ITGB4-R515Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5CARD14-R682Whet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LAMA1-T2611Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5LAMA1-I2076Thet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-K2002Ehet unknown0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-M1340Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.5LAMA1-A886Vhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5LAMA1-N674Thet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.167 (benign)
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDHR1-H53Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5BMPR1A-P2Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOF-D342Nhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC29A3-S158Fhet unknown0.618Unknown
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
0.5AIFM2-G2Vhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
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
0.5PTCHD3-L152Phet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PPYR1-A99Shet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (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
0.5PLCE1-S469Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MADD-R765Qhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MADD-R766*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MS4A14-P676Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MS4A5-G51Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CD6-P105Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD6-A257Vhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD6-A271Thet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CD6-T539Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5EHF-A96Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRVI1-P186Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MRVI1-A70Thomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MRVI1-I11Vhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2153Fhet unknown0.122Unknown
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-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPAG17-P1348Lhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SPAG17-E158Vhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SPAG17-R143Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FLG-Y3105Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5H6PD-D151Ahet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.292 (possibly damaging)
0.5H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5HSPG2-R3632Qhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-S2995Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-G2225Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-V1967Ihet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FUCA1-P10Rhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests
0.5DEM1-L151Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD244-G287Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FCGR3A-F212Vhomozygous0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGR3A-Y194Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHX1-H139Rhomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANKRD16-Q353Rhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5ANKRD16-A128Ghet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ANKRD16-G30Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PHLDA3-R28Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5CEP350-R892Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CEP350-G1213Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CEP350-A1387Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CEP350-T1446Ahet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.197 (benign)
0.5RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMC2-R337Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-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
0.5AHNAK-V5440Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.813 (possibly damaging)
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-G2527Dhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MCEE-A76Vhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHRS4L1-R5Ghet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHRS4L1-R122Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
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
0.5ACIN1-S647SRShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S467Phomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhomozygous0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-N20Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FNDC3A-T1017Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5CLN5-K368Rhomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGGT2-H1381Rhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGGT2-M994Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.903 (probably damaging)
0.5UGGT2-A821Thet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.5UGGT2-S328Ahomozygous0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGGT2-A323Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1871Yhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-S615Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
0.5TP53BP1-V1031Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TJP1-G1169Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIPA1L1-P56Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.679 (possibly damaging)
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SERPINA9-V348Ahet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-R310Ihet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-H254Qhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-P236Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-T57Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SERPINA9-A42Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5VWF-D1472Hhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ACSM4-T251Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM4-Q357*het unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KCNJ1-M357Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.324 (possibly damaging), Testable gene in GeneTests
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), 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-SI15YThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM126B-A168Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ATM-D1853Nhet unknown0.100Unknown
not reviewed
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
0.5KIAA1377-G238Chomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1377-S275Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5KIAA1377-I281Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.05 (benign)
0.5KIAA1377-A302Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign)
0.5KIAA1377-S1077Nhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KNTC1-H748Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CSNK1A1L-R170Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF21A-G614Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5UTP20-M120Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UTP20-L1882Qhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT4-N257Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EMP3-I125Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.878 (probably damaging)
0.5ALG3-I107Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-R202Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-V347Lhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-T482Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PCDHB16-A508Thet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-R525Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-E526Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-R652Chet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5PCDHB16-A710Vhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF354C-Y524Chet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5ZNF354C-F546Lhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF354C-E553Khomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.5FLT4-R1324Lhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghet unknown0.774Unknown
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-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX6-P939Qhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2487Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PAK1IP1-G124Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-H-Q61Rhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-V92Lhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhomozygous0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-SP182WShet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-SP182WShet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MDC1-R1883Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
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
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CXCL10-R29Chet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAM175A-A348Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5FAM175A-T141Ihet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABCG2-Q141Khet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B11-P358Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
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
0.5EVC-Q74Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), 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-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
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PAICS-S148Chet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TET2-P363Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.917 (probably damaging)
0.5TET2-L1721Whet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IQGAP2-V455Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQGAP2-D527Ehomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-K532Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-L629Fhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-I724Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-S2764Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-M3526Thet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-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
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANK2-V2369Ahet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ANK2-S3300Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), 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
0.5TLR3-L412Fhomozygous0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
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
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DENND4C-I5Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFHX4-I2036Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.077 (benign)
0.5ZFHX4-V3033Ghet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.889 (probably damaging)
0.5PCM1-N159Shet unknown0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-M597Vhet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCM1-R1251Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHRNA2-T125Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LPL-S474*het unknown0.084Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC16A2-S107Phomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMT1-V305Ihet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSC1-M322Thomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTUS1-S267Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MTUS1-C148Rhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T400Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A568Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-D1640Ghet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V2525Ihet unknownRecessive
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNA5-V207Mhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests
0.5DFNA5-P142Thet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRR15-P115Shet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5PRR15-P124Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RARS2-V235Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BACH2-L291Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-L1235Phet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-V497Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
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
0.5GPR37-T589Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-V227Mhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Q280Rhet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOM2-A219Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYOM2-T304Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYOM2-S523Nhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYOM2-N869Shomozygous0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZKSCAN1-P201Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-R1276Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A43-M275Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMCR7L-R169Whet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATIC-T116Shomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TTLL3-M502Rhomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTLL3-R561*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NCKIPSD-P551Shet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T23113Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R19629Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
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-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLXNB1-P435Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
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
0.5SLC22A14-L238Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC22A14-V284Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-S292Ghomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-V391Ihet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-P560Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-V1126Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ULK4-S640Ahomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-A542Thomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-I224Vhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-K39Rhomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5OBSL1-EV1744GGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-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-E269Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC19A1-H27Rhomozygous0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5EIF2B5-I587Vhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5UMODL1-N274Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5UMODL1-R447Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5UMODL1-R447Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5UMODL1-M559Thet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UMODL1-Q665*het unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5UMODL1-T741Phet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-I767Thomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BPIL1-D359Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL6A3-T3069Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CSF2RB-P603Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MKKS-G532Vhomozygous0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5MKKS-R517Chomozygous0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALNT5-D678Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V4120Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
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-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC39-T182Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5KIAA2018-V2200Ahomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA2018-S1818Ghet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N2632Dhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5LRP2-G669Dhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-R240Hhet unknownUnknown
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
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARL13B-T348Shet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5MOGS-V673Ihet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), 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
0.5LY75-K1347Rhomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.895 (probably damaging)
0.5LY75-K1321Nhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY75-P1247Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5LY75-D807Ehomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY75-E268Dhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.375LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LAMA2-R826Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LAMA2-A2585Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375KRT6C-I493Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HMCN1-N1529Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.375HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.375APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375APC-S2621Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PANK2-G126Ahet unknown0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25PRX-G1132Rhet unknown0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OR8U8-A51Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T53Ehet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S54Khet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-V91Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OR8U8-I109Vhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S112Chet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153Ihet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-F200Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25OR8U8-M206Thet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR8U8-S209Chet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L211Vhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-H229Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-G242Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A267Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T270Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-Q293Rhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-D887Nhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign), Testable gene in GeneTests
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-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
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I338Thet unknown0.038Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
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
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-V257Mhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-R1999Whomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
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
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LEPR-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
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25AOX1-N1135Shet unknown0.174Unknown
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
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), 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
0.25KRT10-G565GGYGGGSSSGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-H487Yhet unknown0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUZ12-AAAGAAV62Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-P74Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-R101*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25WDR36-I264Vhet unknown0.237Unknown
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
0.25TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MYO15A-C1977Rhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-P350Lhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-G25Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MPDU1-A229Thet unknown0.173Unknown
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
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASR-E1011Qhet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TMC3-D1098Nhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMC3-S1044*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TMC3-C892Yhomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF43-L418Mhomozygous0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-L2097Phet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PCNT-H2125Phet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-M2188Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-H2247Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-I259Thet unknown0.366Unknown
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
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-L643Fhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BRIP1-S919Phet unknown0.612Unknown
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
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
0.25CBR3-C4Yhet unknown0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKK1-G318Rhomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKK1-H490Rhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ANKK1-L498Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MOCOS-S22Rhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.707 (possibly damaging)
0.25MOCOS-T170Ihomozygous0.911Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-S184Ghomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-H225Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25MOCOS-V358Mhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-A510Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EYS-R2326Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1873Vhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-S1517Ghet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-R1515Whet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1451Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1361Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q1325Ehet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1263Vhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-T217Ihet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-D89Ahet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-D89Ahet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-A70Vhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
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-F202Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
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
0.25RUFY1-Q454Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RUFY1-S705Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-L218Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-M251Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-K254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PABPC3-E345*het unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PABPC3-V365Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-E381Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25PNPLA3-G115Chet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-N227Shet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CELA1-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
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0ITPA-P32Thet unknown0.061Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0CPN1-G178Dhet unknown0.036Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.982 (probably damaging), Testable gene in GeneTests
0JPH3-A271Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0COL9A1-P32Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0GUCY2D-P701Shet unknown0.025Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,744,326,398 bases (96.0% of callable positions, 89.1% of total positions)

Coding region coverage: 30,729,135 bases (92.3% of all genes, 93.5% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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