hu87C6A9 - GET-Evidence variant report

Variant report for hu87C6A9

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1C3-R102GModerateLikelyLikely pathogenic

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

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
3BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Homozygous
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
4RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
5TGIF1-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
6WFS1-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
7SP110-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
8ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
9TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
10DYX1C1-E417XLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.20147One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.1
11DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Heterozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
12FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
13PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
14CASP10-V410ILowLikelyLikely protective

Dominant, Heterozygous
0.0474066Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).1
15NPC1-H215RLowLikelyLikely protective

Complex/Other, Homozygous
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
16CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
17TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
18KCNJ11-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
19TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
20NEFL-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
21NOTCH3-A1020PLowLikelyLikely benign

Unknown, Heterozygous
0.111835Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data.1
22MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
23FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.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
25TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
26RELN-G1280ELowUncertainUncertain benign

Unknown, Heterozygous
0.0112474Probably benign.1
27DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
28PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
29ABCA4-R943QLowUncertainUncertain benign

Unknown, Heterozygous
0.0316044This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.1
30BRCA1-Q356RLowUncertainUncertain benign

Unknown, Heterozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
31APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
32PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
33RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
34TAS2R38-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
35SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
36TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31007780 / 33212919 = 93.36%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.2249918540241147576138955553-955753, 957581-957600, 957609, 957616-957662, 957670-957715, 957736, 957739-957794, 957815-957842, 970672-970704, 976045-976086, 976093-976260, 976553-976648, 976654-976777, 976863-976968, 976985-976991, 977000-977047, 977057-977082, 977339-977349, 977353-977360, 977410-977442, 977451-977480, 977515, 977525-977526, 977531, 977539-977541, 978619-978790, 978801, 978805-978837, 978918-978973, 978982-979061, 979068, 979073-979080, 979091-979097, 979110-979112, 979209-979270, 979290-979389, 979489-979532, 979541-979559, 979583-979632, 979714-979748, 979777-979819, 980594-980618, 980649, 980739-980753, 980773-980816, 980835-980857, 980869-980903, 981137-981139, 981143-981145, 981150-981160, 981182-981184, 981241-981256, 981344-981373, 981383-981468, 981548-981583, 981590-981623, 981777-982064, 982077-982115, 982200-982232, 982241-982303, 982317, 982320-982327, 982333, 982707-982808, 982824, 982953-983013, 983019-983027, 983038-983053, 983156-983243, 983249-983275, 983392-983400, 983418-983745, 984247-984311, 984315-984319, 984337, 984343-984409, 984416-984439, 984616-984726, 984748-984806, 984812-984831, 984946-984963, 984983, 984986, 984989-984990, 984993-984998, 985012-985084, 985103-985175, 985283-985286, 985291-985292, 985313-985316, 985322, 985331-985364, 985371-985405, 985416-985417, 985613-985649, 985663-985673, 985817-985823, 985833-985857, 985862-985895, 985902-985907, 985916-985923, 985932-985935, 985950-985971, 986106, 986114-986116, 986182-986204, 986633-986749, 986833-986984, 986991-987025, 987108-987126, 987132, 987155-987184, 987190, 989133-989145, 989176-989227, 989248-989252, 989305-989346, 989828-989839, 989847-989931, 990212-990215, 990223-990302, 990306-990307, 990310-990311, 990322-990327, 990336, 990345-990361
2GABRD10.4039735099337781013591950863-1950930, 1956381-1956405, 1956420-1956459, 1956466, 1956471-1956479, 1956774, 1956795-1956829, 1956969, 1956977-1957026, 1957032, 1957037, 1957052-1957127, 1957136-1957168, 1959016-1959025, 1959032, 1959601-1959615, 1959669-1959671, 1959688, 1959690-1959694, 1959707-1959716, 1959720, 1960550-1960571, 1960583-1960609, 1960630, 1960633, 1960646-1960668, 1960676-1960705, 1960990-1961062, 1961068-1961074, 1961118-1961119, 1961122-1961124, 1961135-1961139, 1961157, 1961167-1961201, 1961422-1961430, 1961446-1961513, 1961530-1961536, 1961564-1961592, 1961623-1961647, 1961667-1961721
3PEX1010.378185524974526109812337246, 2337261-2337273, 2337923-2338011, 2338041-2338058, 2338159-2338234, 2338248-2338330, 2339891-2339895, 2339961, 2339971-2340037, 2340104-2340219, 2340229-2340230, 2340271-2340297, 2343830-2343941
4NPHP410.9117028731604837842815923979-5923997, 5924546-5924571, 5925190-5925194, 5925294, 5925298, 5925305-5925306, 5925310-5925311, 5925317, 5925320-5925332, 5934556-5934560, 5934667-5934684, 5935063-5935067, 5935112-5935115, 5935153-5935160, 5947369, 5947424-5947430, 5947473-5947500, 5947510-5947515, 5950939-5950946, 5950970-5950986, 5969242, 6027359-6027382, 6027408-6027414, 6029151-6029166, 6029252-6029257, 6029261, 6029264-6029265, 6038330-6038473
5ESPN10.6491228070175490025656485016-6485021, 6485032-6485300, 6488301-6488346, 6488376-6488393, 6488426-6488433, 6488456-6488479, 6500388-6500391, 6500413-6500437, 6500450-6500488, 6500707-6500744, 6500756-6500802, 6500827-6500868, 6500994-6500997, 6501021-6501065, 6501100, 6505724-6505745, 6505776-6505820, 6505849-6505855, 6505891, 6505914-6505917, 6508720-6508737, 6508851-6508896, 6508922-6508928, 6509054-6509078, 6509139-6509145, 6511786-6511808, 6511907-6511933, 6512024, 6512047, 6512106-6512154, 6520197
6PLEKHG510.9388523047977419531896527903-6527904, 6528042, 6528264-6528266, 6528287, 6529701, 6530366-6530367, 6530802, 6530819, 6530824-6530844, 6530909, 6530920, 6530936, 6531084-6531097, 6531139, 6531636-6531638, 6532649-6532653, 6532656-6532660, 6533412-6533415, 6534135-6534136, 6534141-6534145, 6534155, 6534159, 6534199-6534224, 6534536-6534546, 6534552, 6534622-6534647, 6535161-6535165, 6535562-6535582, 6556559, 6556565, 6556608-6556629, 6557380-6557383
7PEX1410.9823633156966520113410684440-10684458, 10689689
8TARDBP10.9518072289156660124511082243-11082278, 11082339-11082362
9MASP210.71761280931587582206111097775-11097781, 11097824-11097830, 11097851-11097868, 11102932-11102983, 11103056-11103058, 11103061-11103062, 11103067-11103069, 11103396-11103434, 11103443-11103525, 11103545-11103556, 11103582-11103592, 11105465-11105488, 11105501-11105528, 11105540-11105596, 11106630-11106631, 11106637, 11106650-11106665, 11106684-11106730, 11106745, 11106755-11106779, 11106784-11106790, 11106948-11107005, 11107070-11107091, 11107125-11107176, 11107260-11107264
10MTHFR10.989852866565220197111853992, 11853995-11854009, 11854825-11854828
11PLOD110.81456043956044405218411994859-11994878, 12009900, 12009903, 12009918, 12010494-12010523, 12010552, 12012698, 12012734, 12012739, 12012746-12012749, 12012785-12012787, 12014887-12014892, 12014915-12014929, 12017997, 12018583, 12018602, 12018606-12018607, 12020715, 12020758-12020772, 12023604, 12023611-12023617, 12023633-12023655, 12023668-12023685, 12024265-12024295, 12024312-12024318, 12024324-12024325, 12024339-12024357, 12024721-12024725, 12024741, 12024759, 12024762, 12024770-12024772, 12024833-12024836, 12025598-12025599, 12025624-12025646, 12026329-12026373, 12027056-12027061, 12027082-12027084, 12027088, 12027091, 12027131, 12030745-12030771, 12030788-12030832, 12030842-12030849, 12030862-12030873, 12034799-12034800
12MFN210.998680738786283227412066669, 12067119, 12067258
13CLCNKA10.78827519379845437206416349170, 16349177-16349182, 16353093-16353096, 16353267, 16354330, 16354334, 16354602-16354609, 16355330-16355338, 16355623-16355634, 16355682-16355746, 16356272-16356280, 16356477-16356492, 16356497-16356501, 16356553-16356570, 16356956-16356971, 16356979-16356986, 16356993, 16356998-16357018, 16357026-16357136, 16357162-16357169, 16358205-16358213, 16358255, 16358278-16358279, 16358700-16358722, 16358729, 16358735-16358736, 16358739-16358766, 16358775-16358780, 16358963-16358979, 16359692-16359718
14CLCNKB10.89195736434109223206416372162-16372169, 16377034, 16378211-16378214, 16378268-16378281, 16378693-16378717, 16378733-16378801, 16378828-16378829, 16378832, 16378867-16378891, 16378904-16378906, 16380193-16380201, 16380252, 16382009-16382015, 16382170-16382171, 16382175, 16382180-16382186, 16382203-16382238, 16383364-16383371
15ATP13A210.9788314987298975354317313343, 17313595-17313642, 17313676-17313683, 17314961-17314964, 17322926, 17323612, 17323615, 17326628-17326637, 17338233
16ALDH4A110.9615839243498865169219203969-19203987, 19208224, 19209794-19209806, 19209841-19209853, 19209887-19209891, 19216513-19216522, 19216525-19216528
17HSPG210.982392228293872321317622149809-22149829, 22149858-22149860, 22149903-22149905, 22149914-22149916, 22150109-22150140, 22151258-22151263, 22154817-22154821, 22155965-22155981, 22176936-22176939, 22181414-22181426, 22191454-22191458, 22191815, 22199140-22199148, 22199154, 22199505-22199528, 22206882-22206886, 22206997, 22207001-22207010, 22216970-22216976, 22263649-22263710
18WNT410.89393939393939112105622456131-22456165, 22469339-22469415
19HMGCL10.99795501022495297824134720-24134721
20FUCA110.9321912919343395140124194394, 24194441-24194464, 24194502, 24194601-24194622, 24194676-24194710, 24194741-24194744, 24194749-24194750, 24194754-24194758, 24194762
21LDLRAP110.925566343042076992725870200-25870267, 25889635
22SEPN110.58752997601918688166826126722-26126904, 26127643-26127650, 26131689-26131714, 26135080-26135122, 26135147-26135150, 26135174-26135225, 26135256-26135280, 26135533-26135535, 26135544, 26135549-26135566, 26135581-26135617, 26135623-26135641, 26136180-26136218, 26136271-26136308, 26137946, 26137971-26137984, 26138182-26138190, 26138201, 26138207, 26138215, 26138228, 26138255, 26138262-26138264, 26138307-26138370, 26139225-26139239, 26139250-26139279, 26139283, 26140372-26140405, 26140443-26140455, 26140587-26140589
23KCNQ410.77825670498084463208841249766-41249778, 41249805-41249808, 41249817-41249847, 41249850-41249851, 41249858-41249902, 41249915-41249950, 41249959-41249987, 41250017-41250065, 41284177-41284180, 41284185, 41284192, 41284197-41284205, 41284211-41284227, 41284246, 41284257, 41284264, 41284275-41284314, 41284335-41284348, 41285019-41285028, 41285098-41285122, 41285597-41285600, 41285603-41285622, 41288044-41288045, 41296854-41296859, 41296966-41296976, 41298756-41298773, 41300723-41300745, 41304003-41304027, 41304037-41304056, 41304171
24CLDN1910.979259259259261467543201557-43201565, 43203970, 43203976, 43203982-43203984
25LEPRE110.999095431931252221143232578-43232579
26DHCR2410.9277885235332112155155319130, 55319213-55319225, 55319710-55319712, 55319741-55319743, 55319750-55319755, 55319827-55319843, 55340766-55340775, 55340791-55340792, 55340804, 55352579-55352608, 55352653-55352659, 55352755-55352773
27PCSK910.88936988936989230207955505520-55505526, 55505543-55505579, 55505595-55505598, 55505605, 55505612-55505613, 55505659, 55509525-55509539, 55509690-55509696, 55521691-55521702, 55521716-55521746, 55521765-55521766, 55521792, 55521804-55521821, 55521832-55521833, 55521837, 55521843-55521862, 55523015, 55523127-55523151, 55524200, 55524216-55524230, 55524260-55524273, 55525298-55525309, 55529216
28COL11A110.9890049477735605457103364231-103364272, 103364282-103364286, 103364291, 103364296, 103435818-103435828
29GSTM110.9543378995433830657110230836-110230861, 110233076-110233078, 110233113
30HSD3B210.9991063449508511119119965243
31NOTCH210.981661272923411367416120539665-120539714, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120612000-120612006
32FLG10.89167897587395132012186152276267, 152276271, 152276282, 152276295-152276297, 152276465, 152276548, 152276571, 152276583, 152276598, 152276604, 152276609, 152276648-152276651, 152276671, 152276715-152276729, 152276841-152276847, 152276895, 152276907, 152277011-152277017, 152277081-152277115, 152277269, 152277288-152277292, 152277402-152277413, 152277434-152277473, 152277524-152277527, 152277554, 152277620-152277653, 152277787-152277808, 152278049, 152278244-152278250, 152278408-152278437, 152279216-152279222, 152279403-152279409, 152279740-152279767, 152279838-152279869, 152280011-152280018, 152280059, 152280137-152280153, 152280210-152280211, 152280272, 152280331, 152280468-152280507, 152280544-152280617, 152280721, 152280784-152280791, 152280932, 152280974-152280980, 152281133-152281176, 152281264-152281280, 152281293-152281315, 152281450, 152281581, 152281589, 152281621, 152281681-152281687, 152281921-152281930, 152281945, 152281958-152281971, 152282034-152282050, 152282118, 152282121, 152282128, 152282131, 152282157-152282199, 152282244, 152282287-152282289, 152282384, 152282390, 152282398, 152282406-152282408, 152282417-152282419, 152282465-152282491, 152282516, 152282757-152282769, 152282832-152282865, 152282897, 152283021-152283051, 152283068-152283100, 152283353, 152283423-152283461, 152283500-152283533, 152283735-152283753, 152283888-152283889, 152283892-152283896, 152283915, 152283948, 152283967-152284013, 152284060-152284080, 152284243-152284252, 152284255, 152284339-152284341, 152284344, 152284358-152284386, 152284456-152284457, 152284683-152284707, 152284758, 152284831, 152284837, 152284845-152284848, 152284851-152284858, 152284961, 152284981-152285011, 152285027-152285074, 152285119, 152285122, 152285136-152285137, 152285155, 152285185-152285230, 152285275-152285320, 152285367, 152285407, 152285410, 152285415, 152285683-152285707, 152285953-152285963, 152285992-152285996, 152286012-152286014, 152286126, 152286134, 152286138, 152286164, 152286379, 152286844-152286845, 152286977-152286980, 152287866-152287880
33CHRNB210.90125911199471491509154540521-154540522, 154543831-154543845, 154544243-154544292, 154544339-154544361, 154544372-154544418, 154544464, 154544509-154544519
34GBA10.97827903091061261197155184364-155184384, 155184420, 155184423-155184426
35PKLR10.96695652173913571725155269911-155269913, 155269928-155269945, 155269973-155269985, 155269988-155270009, 155271121
36LMNA10.99348370927318131995156108326-156108338
37SEMA4A10.9912510936133202286156131146-156131160, 156131305-156131309
38NTRK110.98494353826851362391156830727-156830758, 156843652, 156846263-156846265
39SLC19A210.9939759036144691494169446811-169446819
40F510.9997003745318426675169505817-169505818
41NPHS210.9965277777777841152179544878-179544881
42CDC7310.9993734335839611596193091331
43ASPM10.99913743530765910434197069903, 197069907, 197070776, 197086979, 197093345-197093349
44CRB110.9997630893153314221197403962
45PKP110.9995414947271912181201282427
46LAMB310.9951690821256173519209790802-209790807, 209790907-209790913, 209790924-209790927
47USH2A10.9994234095714915609215916630-215916637, 215916677
48ADCK310.97222222222222541944227152798-227152806, 227152937-227152939, 227153014-227153015, 227153059-227153062, 227153095, 227153373, 227153415-227153438, 227169772-227169779, 227171803, 227171820
49GJC210.431818181818187501320228345460-228345496, 228345525-228345535, 228345562-228345602, 228345632-228345691, 228345707, 228345721-228345759, 228345777-228345821, 228345899, 228345909-228345917, 228345944-228345961, 228346021-228346024, 228346034-228346126, 228346139, 228346151-228346195, 228346203-228346245, 228346305-228346345, 228346354-228346489, 228346510-228346543, 228346553-228346596, 228346621-228346623, 228346629-228346634, 228346663-228346693, 228346704-228346707, 228346712, 228346720-228346721
50ACTA110.681657848324523611134229567628-229567644, 229567746-229567788, 229567800-229567823, 229567829, 229567840-229567842, 229567846, 229567850, 229567860-229567892, 229567906-229567932, 229568036-229568056, 229568081-229568111, 229568122-229568178, 229568314-229568361, 229568388-229568393, 229568398-229568408, 229568469-229568494, 229568786-229568793, 229568798, 229568803-229568804
51AGT10.9993141289437611458230845983
52LYST10.997720497983522611406235875453-235875456, 235907297-235907310, 235956819-235956826
53MTR10.9992101105845233798237060942-237060944
54RYR210.997785829307573314904237632460-237632467, 237821244-237821267, 237821322
55NET1100.993858179787831117915454751-5454761
56GATA3100.99925093632959113358100745
57OPTN100.998269896193773173413151243-13151245
58DCLRE1C100.9850889850889931207914950490, 14970020, 14976411-14976417, 14981847-14981868
59CUBN100.99687270051508341087216943378, 16967240-16967259, 16967289-16967291, 16970179-16970185, 16970222-16970223, 16979661
60PTF1A100.6950354609929130198723481476, 23481511-23481518, 23481584-23481590, 23481618-23481661, 23481737-23481786, 23481807-23481841, 23481857-23481900, 23481908-23481961, 23481967, 23481998-23482004, 23482079, 23482094, 23482098-23482112, 23482115, 23482128-23482159
61RET100.95575485799701148334543572707-43572779, 43595925, 43595968, 43598062, 43600501-43600520, 43600575-43600616, 43606856, 43606899-43606902, 43619217, 43619247-43619250
62ERCC6100.9890673806336549448250740788-50740836
63CHAT100.997774810858925224750822374-50822378
64NODAL100.89272030651341112104472195058-72195067, 72195103-72195116, 72195178, 72195278-72195299, 72201231-72201266, 72201351, 72201371-72201394, 72201406-72201408, 72201421
65PRF1100.9562350119904173166872358080, 72358247-72358277, 72358285-72358291, 72358418-72358438, 72358457-72358458, 72358469, 72358473-72358478, 72358482, 72360211, 72360384-72360385
66PCBD1100.9968253968254131572648290
67SLC29A3100.995098039215697142873111374-73111377, 73122199-73122201
68CDH23100.973945902943522621005673439200-73439203, 73439216, 73447440, 73447443-73447452, 73462334-73462336, 73462404-73462422, 73464668-73464684, 73464746-73464814, 73464878-73464881, 73466792-73466803, 73468937-73468952, 73472554, 73472567, 73490275-73490281, 73490331-73490335, 73491939, 73498344-73498345, 73499407-73499413, 73499500-73499511, 73501467-73501482, 73501487-73501492, 73501673-73501678, 73550066, 73550907, 73550953-73550957, 73551084-73551092, 73571712-73571736, 73572347
69LDB3100.88278388278388256218488439896-88439901, 88441327-88441341, 88441420-88441421, 88441434-88441437, 88441439-88441451, 88441548-88441560, 88451715-88451721, 88451765, 88451801-88451822, 88466311-88466316, 88466389-88466402, 88466467-88466473, 88469766-88469772, 88476141, 88476146, 88476162, 88476171-88476186, 88476190, 88476218, 88476223-88476250, 88476255, 88476272-88476299, 88476329-88476340, 88476382-88476406, 88476434-88476457
70BMPR1A100.999374609130711159988683146
71GLUD1100.961836612999464167788813101-88813107, 88854083-88854087, 88854353-88854356, 88854380, 88854422, 88854449-88854485, 88854490, 88854514-88854521
72LGI1100.995221027479098167495517944-95517951
73HPS1100.941120607787271242106100177338-100177391, 100177409-100177448, 100177949-100177978
74PAX2100.9969207082371141299102509573-102509575, 102510483
75HPS6100.948883161512031192328103825381, 103825385, 103825394-103825395, 103825408-103825454, 103825492-103825506, 103825573-103825575, 103825629-103825636, 103825677-103825699, 103825709-103825716, 103825723-103825726, 103826041-103826047
76SUFU100.9958762886597961455104264082, 104264086-104264090
77CYP17A1100.9967256057629351527104593814-104593818
78COL17A1100.9997774810858914494105816916
79EMX2100.86166007905138105759119302782, 119302797-119302799, 119302819-119302823, 119302848-119302852, 119302918-119302960, 119303088-119303122, 119305310-119305322
80BAG3100.9971064814814851728121411348-121411352
81ARMS2100.953703703703715324124214488-124214502
82HTRA1100.713097713097714141443124221169-124221424, 124221441-124221442, 124221447-124221448, 124221459-124221540, 124221564-124221586, 124221592-124221602, 124221610-124221640, 124266392-124266398
83ACADSB100.9969207082371141299124800850, 124800864-124800866
84UROS100.9561403508771935798127477437-127477466, 127477490-127477494
85HRAS110.41578947368421333570532656-532703, 532713-532755, 533457-533465, 533499, 533511, 533528-533567, 533609-533612, 533766-533824, 533836-533903, 533928-533944, 534212-534220, 534234-534240, 534274-534300
86TALDO1110.790927021696252121014747482-747494, 747515-747578, 763344-763431, 763479-763515, 763861, 763871, 764316-764323
87SLC25A22110.14300411522634833972791928-792068, 792142-792149, 792155-792217, 792304-792337, 792342-792394, 792413-792418, 792441-792458, 792556-792650, 792658-792727, 792870-792988, 793529-793560, 793585-793591, 793601-793619, 794486-794513, 794776-794901, 794993-795006
88PNPLA2110.605940594059415971515819719-819905, 821663-821714, 821755-821756, 821818-821820, 822464-822486, 822500, 823574, 823694-823699, 823729-823736, 823740-823745, 823769-823798, 823818-823855, 823998-824023, 824034-824036, 824039, 824048-824065, 824076, 824088-824112, 824123-824130, 824314-824347, 824358-824364, 824426-824432, 824523-824527, 824558-824600, 824658-824675, 824725-824730, 824774-824792, 824803-824807, 824849-824862
89CTSD110.322841000807183912391774733-1774786, 1774802, 1774808-1774813, 1774819, 1774822-1774835, 1774838, 1774855-1774900, 1775033-1775075, 1775084-1775121, 1775128-1775131, 1775224-1775301, 1775330-1775337, 1775340-1775368, 1778554-1778640, 1778659-1778677, 1778696, 1778749, 1778773-1778784, 1780199-1780228, 1780240, 1780252-1780317, 1780746-1780783, 1780796-1780817, 1780826-1780869, 1782539-1782572, 1782583-1782675, 1785022-1785089
90TNNI2110.508196721311482705491861454-1861468, 1861633-1861674, 1861758-1861806, 1861823-1861863, 1861870-1861872, 1861875, 1862069-1862103, 1862261-1862266, 1862293-1862336, 1862374, 1862387-1862390, 1862406-1862423, 1862686-1862691, 1862777-1862781
91TNNT3110.140283140283146687771944788-1944790, 1944793-1944796, 1946329-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1954951-1955067, 1955161-1955203, 1955218-1955238, 1955562-1955675, 1955776-1955885, 1956059-1956149, 1958193-1958206, 1958214-1958233, 1959668-1959722
92H19110.949579831932775410712017539, 2017579, 2017601-2017606, 2017749-2017782, 2017823, 2017826-2017827, 2017995-2017998, 2018001, 2018170, 2018276, 2018284, 2018328
93IGF2110.0787623066104086557112154217-2154265, 2154275-2154453, 2154765-2154817, 2154826-2154895, 2156597-2156601, 2156614-2156678, 2156688-2156759, 2161365-2161526
94TH110.25142857142857117915752185474, 2185512, 2185522-2185554, 2185559-2185562, 2185566, 2185571, 2185590-2185615, 2185621-2185622, 2186462-2186470, 2186479-2186595, 2186898-2186993, 2187232-2187272, 2187710-2187779, 2187863-2187998, 2188117-2188152, 2188171-2188177, 2188185-2188238, 2188253-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189332, 2189341-2189380, 2189404, 2189730, 2189751-2189778, 2189782-2189791, 2189798-2189825, 2189835-2189866, 2189895, 2190880-2190938, 2190947, 2190951, 2190956-2190991, 2191002-2191030, 2191034, 2191037, 2191042, 2191051-2191079, 2191099-2191101, 2191920-2192000, 2192953-2192964, 2192971-2192973, 2192988, 2192991-2192993, 2192998
95KCNQ1110.7508616445100950620312466329-2466686, 2466702-2466714, 2591953-2591960, 2592555-2592576, 2593243-2593249, 2593262-2593264, 2593295-2593334, 2594125-2594150, 2604670-2604680, 2604685-2604701, 2608918
96CDKN1C110.141955835962158169512905234-2905272, 2905283-2905284, 2905289-2905312, 2905344, 2905350-2905364, 2905900-2906271, 2906281-2906516, 2906539-2906577, 2906585-2906622, 2906649-2906697, 2906703
97SMPD1110.994198312236291118966411931-6411941
98SBF2110.99891891891892655509838450-9838454, 9861229
99ABCC8110.9964180362410517474617464372, 17498267-17498282
100USH1C110.996296296296310270017517197-17517203, 17522637-17522638, 17531150
101ANO5110.999635302698761274222277036
102FANCF110.999111111111111112522646843
103WT1110.77734877734878346155432456306-32456309, 32456322-32456325, 32456363, 32456370-32456372, 32456444-32456472, 32456484-32456502, 32456511, 32456517, 32456558-32456792, 32456812-32456859, 32456891
104ALX4110.998381877022652123644286453, 44286698
105SLC35C1110.995265151515155105645827420-45827424
106PEX16110.9154658981748388104145931663, 45931680-45931694, 45931716, 45931720-45931728, 45932475, 45935441-45935447, 45935730, 45935914-45935915, 45935924, 45935949, 45935983-45935984, 45937370, 45937377, 45939259-45939301, 45939328, 45939331
107F2110.9588014981273477186946742086-46742087, 46744730-46744740, 46747500, 46747503-46747521, 46747564-46747567, 46747712-46747720, 46748116-46748131, 46748372-46748382, 46750328-46750331
108MYBPC3110.9895424836601340382547353663, 47370040, 47371329-47371335, 47371473, 47371585-47371591, 47372079-47372096, 47372134, 47372165-47372166, 47372937, 47372943
109SLC39A13110.998207885304662111647431826, 47436328
110RAPSN110.9281678773204289123947459526-47459531, 47459548, 47459553-47459555, 47460328-47460335, 47460424-47460445, 47463254-47463261, 47463401-47463436, 47463468, 47464247, 47469439-47469440, 47469598
111TMEM216110.99621212121212126461165280
112BEST1110.999431171786121175861723406
113ROM1110.990530303030310105662380775-62380777, 62380787-62380789, 62381057, 62381906-62381908
114SLC22A12110.66606498194946555166264359088-64359096, 64359101, 64359111-64359131, 64359177-64359180, 64359199-64359201, 64359205, 64359216-64359220, 64359251-64359275, 64359295, 64359298, 64359301, 64359322, 64359345-64359378, 64359387-64359391, 64359394, 64360267-64360270, 64360286-64360290, 64360300-64360303, 64360314, 64360353, 64360912-64360938, 64361010-64361031, 64361111-64361113, 64361150, 64361153-64361180, 64361186-64361226, 64365988-64365997, 64366006, 64366280-64366308, 64366350, 64366355, 64367148-64367192, 64367214-64367287, 64367297-64367362, 64367853-64367865, 64367898-64367905, 64367947, 64368207-64368215, 64368236-64368237, 64368240, 64368271-64368284, 64368287, 64368315, 64368334-64368340, 64368359-64368371, 64368960-64368962, 64369019-64369023
115PYGM110.964412811387990252964520642, 64521106, 64521385-64521400, 64521444, 64521462-64521463, 64521769, 64522306-64522308, 64525808-64525821, 64525915, 64525951-64525953, 64526075-64526094, 64527143-64527167, 64527340, 64527354
116MEN1110.9859307359307426184864572012, 64572064, 64572084, 64572248, 64572279, 64572540, 64572557, 64572598, 64572601-64572602, 64572607, 64572615, 64575027-64575029, 64577258, 64577521-64577529, 64577580
117EFEMP2110.9654654654654746133265634514, 65634526, 65634529, 65634540-65634546, 65635437-65635450, 65636073-65636074, 65636081, 65637633, 65638657-65638662, 65638719, 65638823-65638828, 65639821-65639825
118CST6110.7177777777777812745065779577-65779597, 65779605, 65779730-65779755, 65780297-65780327, 65780344-65780385, 65780409, 65780412-65780415, 65780418
119SPTBN2110.98145824620103133717366467064, 66468035-66468038, 66468232-66468243, 66468296-66468315, 66468391-66468407, 66468477, 66472308-66472323, 66472573-66472581, 66474996-66475002, 66475101-66475106, 66475258-66475261, 66475289, 66475622-66475646, 66475710-66475719
120PC110.96663839411931118353766618294-66618303, 66620094-66620123, 66631412-66631424, 66633658-66633682, 66633795-66633809, 66637832, 66638357-66638359, 66638937, 66638940-66638949, 66639196-66639200, 66639212-66639216
121CABP4110.921497584541066582867222941-67222960, 67222975, 67223073, 67223078, 67223081-67223083, 67223107-67223117, 67223166-67223172, 67223175, 67223208-67223210, 67225913-67225919, 67225928-67225932, 67225985-67225989
122AIP110.5377643504531745999367254570-67254572, 67254605-67254606, 67256738, 67256769-67256775, 67256795-67256851, 67256865-67256889, 67257509-67257552, 67257592-67257643, 67257663-67257670, 67257680-67257685, 67257787-67257793, 67257812-67257880, 67257912-67257928, 67258259-67258309, 67258340-67258349, 67258354-67258387, 67258391-67258420, 67258429-67258464
123NDUFS8110.5671406003159627463367799622, 67799754-67799764, 67799771-67799803, 67800390-67800418, 67800445-67800447, 67800598-67800611, 67800642-67800655, 67800688-67800691, 67800706, 67800718-67800736, 67803720-67803731, 67803743, 67803753-67803798, 67803825-67803848, 67803943-67803948, 67803966-67804011, 67804051-67804060
124TCIRG1110.334937825912561658249367808739-67808762, 67808773-67808836, 67808847-67808855, 67809220-67809235, 67809249-67809291, 67810110-67810164, 67810171-67810242, 67810256-67810330, 67810413-67810444, 67810453-67810498, 67810846-67810861, 67810888-67810908, 67810920-67810928, 67810964, 67811038-67811054, 67811282-67811288, 67811309-67811374, 67811599-67811600, 67811606-67811624, 67811628-67811652, 67811691-67811700, 67811712-67811735, 67811741-67811811, 67812425-67812477, 67812489-67812538, 67812549-67812569, 67814900-67814909, 67814921-67814954, 67814963-67814969, 67814975-67815039, 67815172-67815183, 67815209-67815211, 67815232-67815271, 67815349-67815362, 67815375-67815389, 67815416-67815424, 67815428-67815439, 67816349-67816406, 67816443-67816451, 67816548-67816596, 67816636-67816647, 67816674-67816710, 67816751-67816761, 67817130-67817146, 67817152-67817255, 67817429-67817435, 67817451-67817479, 67817485-67817498, 67817504-67817509, 67817520, 67817524-67817526, 67817604-67817626, 67817651-67817704, 67817718-67817721, 67817954-67817967, 67817987-67818021, 67818027-67818056, 67818070-67818083, 67818086, 67818110-67818131, 67818208-67818225, 67818270-67818286
125LRP5110.82157590759076865484868080183-68080273, 68131215-68131230, 68131238-68131240, 68131267-68131280, 68131289-68131291, 68131326-68131399, 68153792-68153808, 68153905, 68153917, 68153990-68153996, 68154033, 68154140-68154169, 68170951-68170968, 68170996-68171016, 68171021, 68171025-68171026, 68171041, 68171065-68171102, 68171135, 68174078-68174118, 68174127, 68174179-68174185, 68174242, 68174281, 68177382-68177390, 68177458-68177470, 68177547-68177561, 68177588-68177594, 68178936-68178944, 68179016-68179042, 68179066-68179083, 68181162-68181201, 68181378, 68181381, 68181438, 68183895, 68191140-68191165, 68192665, 68201212, 68201219-68201260, 68201300, 68201304-68201305, 68204387, 68204412-68204454, 68205941, 68205952-68205968, 68205998-68206031, 68206055-68206087, 68207252-68207277, 68207335-68207340, 68207349-68207366, 68207380-68207384, 68213986-68213987, 68213993, 68216304-68216307, 68216313, 68216351-68216353, 68216393, 68216396-68216399, 68216421-68216474, 68216509, 68216516, 68216520-68216521, 68216536
126CPT1A110.998708010335923232268540782-68540783, 68540786
127IGHMBP2110.973843058350178298268671470-68671477, 68696683-68696687, 68704047-68704088, 68704518-68704538, 68707110-68707111
128DHCR7110.9614845938375455142871146549, 71146572-71146601, 71146656-71146668, 71146691, 71146696, 71148910, 71149926, 71149981-71149987
129MYO7A110.579271961492182797664876858863-76858879, 76858903-76858947, 76867129-76867131, 76867769-76867775, 76867958-76867970, 76868019-76868032, 76870548, 76870554, 76873235, 76873239-76873241, 76873341-76873363, 76874022-76874023, 76883794, 76883818-76883820, 76883829, 76883841-76883857, 76883863-76883924, 76885802-76885840, 76885845, 76885862-76885960, 76886418-76886466, 76886478, 76886484-76886492, 76888595-76888619, 76888626-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892617, 76892634-76892635, 76892997-76893160, 76893171-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895751, 76895757-76895760, 76900389-76900471, 76900481-76900492, 76900501, 76901065-76901115, 76901119, 76901123-76901124, 76901142-76901155, 76901173-76901184, 76901742-76901752, 76901756-76901762, 76901780-76901915, 76903096-76903137, 76903150-76903323, 76905474-76905480, 76905529, 76905545-76905552, 76908542-76908543, 76908548-76908555, 76909547, 76909550, 76909553-76909595, 76909598-76909600, 76909603, 76909608, 76909620-76909666, 76910726-76910731, 76910766, 76910768, 76910772-76910788, 76910815-76910816, 76910826, 76910833-76910863, 76912493-76912516, 76912613-76912636, 76912668-76912683, 76913392-76913423, 76914123-76914134, 76914172-76914173, 76914177-76914206, 76914226-76914227, 76914232-76914243, 76916512-76916533, 76916630-76916662, 76917142, 76917158, 76917175-76917177, 76917182-76917190, 76917245, 76918334-76918365, 76918443, 76919475-76919510, 76919772-76919777, 76922245-76922264, 76922284-76922285, 76922330, 76922338, 76922348, 76922872-76922881, 76922885, 76922914-76922931, 76924984-76924997, 76925009-76925019
130FZD4110.998141263940523161486666099-86666101
131SDHD110.985416666666677480111965597-111965603
132APOA1110.8967661691542383804116706598-116706624, 116706737-116706740, 116706795-116706822, 116706859-116706882
133FXYD2110.979452054794529438117693275, 117693281-117693288
134SCN4B110.989810771470167687118023356-118023362
135TECTA110.99566898685228286465120983820-120983846, 120984262
136WNK1120.962232480067142707149862732-862752, 862780-862798, 862831-862854, 862862-862910, 862920-862932, 862979-862995, 863006-863036, 863063-863092, 863167-863175, 863193, 863204-863210, 863259-863265, 863268-863271, 863276-863288, 863292-863299, 863443-863448, 863466, 994394, 994504-994505, 995017-995023
137CACNA2D4120.997949619215734141904873-1904875, 1906584-1906587
138CACNA1C120.9955799420822965612566834-2566837, 2676833-2676839, 2705112-2705121, 2797891-2797898
139VWF120.9849561715233412784426058202, 6122647-6122650, 6125394-6125398, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166068-6166117, 6166188
140TNFRSF1A120.964912280701754813686438489-6438491, 6438563-6438578, 6438604, 6438607, 6438611-6438621, 6438768-6438783
141SCNN1A120.99725651577503621876472623-6472625, 6472762-6472763, 6472768
142TPI1120.89333333333333807506976731-6976746, 6976754-6976792, 6976821-6976845
143ATN1120.977889728519457935737045892-7045894, 7045909, 7045912, 7045915, 7045918, 7046467, 7046521-7046547, 7046577-7046587, 7046695-7046702, 7047132, 7047140-7047141, 7047145-7047150, 7047990, 7050156-7050161, 7050629-7050630, 7050634, 7050645-7050650
144PEX5120.99630801687764718967342987-7342993
145CDKN1B120.99162479061977559712871112-12871116
146KRAS120.947368421052633057025368390-25368399, 25380200-25380202, 25380211, 25380214-25380216, 25380256, 25380272, 25380281-25380291
147PKP2120.9737470167064466251433049443-33049470, 33049513, 33049530-33049536, 33049545-33049555, 33049560-33049565, 33049598-33049600, 33049635-33049641, 33049656-33049658
148VDR120.9672897196261742128448251343-48251384
149COL2A1120.9809587813620185446448368461-48368462, 48372105-48372112, 48372499, 48373309, 48373822, 48374356, 48374434-48374439, 48375154-48375156, 48375159, 48376300-48376318, 48376878-48376883, 48377885, 48379523-48379526, 48379556-48379586
150MLL2120.958829902491876841661449420066, 49420075-49420076, 49420161-49420164, 49420605-49420607, 49420610-49420617, 49420621, 49420624-49420625, 49420653-49420655, 49420746-49420784, 49422617, 49424082-49424083, 49424087-49424091, 49424095, 49424146, 49424167, 49424778, 49424781-49424783, 49425041, 49425100, 49425107-49425137, 49425390, 49425400-49425405, 49425505-49425510, 49425608-49425614, 49425769-49425794, 49425799, 49425807, 49425820-49425843, 49425876, 49425882, 49425931-49425934, 49425942-49425945, 49425948, 49426147-49426168, 49426217, 49426486, 49426515, 49426521, 49426525, 49426565-49426590, 49426623, 49426650, 49426656-49426659, 49426697, 49426700, 49426770, 49426789, 49426808-49426811, 49426906-49426913, 49426918, 49426922-49426923, 49426955-49426970, 49427011-49427064, 49427113, 49427117, 49427120-49427121, 49427206-49427223, 49427251-49427253, 49427266-49427268, 49427272, 49427282-49427290, 49427300-49427302, 49427314-49427323, 49427326-49427327, 49427556, 49427605, 49427638, 49427641-49427643, 49427875, 49427919, 49430935-49430954, 49430968-49430969, 49431022-49431024, 49431080, 49431214, 49431222, 49431244, 49431259, 49431285-49431304, 49431309, 49431320, 49431324, 49431372-49431374, 49431384, 49431397-49431404, 49431458, 49431486-49431524, 49431552-49431558, 49431686, 49431749-49431784, 49431835-49431900, 49431989, 49431992-49431994, 49432253-49432256, 49432263-49432265, 49432374-49432381, 49432389, 49432691-49432692, 49433245-49433246, 49433276-49433279, 49433311, 49433315-49433331, 49433334, 49434039-49434053, 49434060-49434062, 49442995
151DHH120.9605373635600347119149483719, 49483826-49483852, 49483895-49483897, 49483986, 49484048-49484060, 49488206-49488207
152TUBA1A120.890350877192985045649522213, 49522269, 49522287, 49522306, 49522310, 49522317, 49522386, 49522411, 49522442-49522471, 49522575, 49522578, 49522585, 49522617-49522625
153ACVRL1120.999338624338621151252306299
154KRT81120.9723320158102842151852684040-52684047, 52684899-52684905, 52685096, 52685176-52685201
155KRT86120.9774127310061633146152696045-52696051, 52696894-52696919
156KRT6B120.99528023598828169552845571-52845577, 52845801
157KRT6C120.9758112094395341169552867230-52867263, 52867457-52867463
158KRT6A120.995870206489687169552886908-52886914
159CYP27B1120.999345121152591152758159885
160GNS120.997588908981314165965152971, 65152974-65152976
161LEMD3120.999634502923981273665563712
162CEP290120.9965053763440926744088519056-88519058, 88522723-88522731, 88532944-88532945, 88535052-88535063
163HAL120.997467071935165197496370217-96370221
164TMPO120.998081534772184208598909842-98909845
165SLC17A8120.9983050847457631770100797833-100797835
166GNPTAB120.9978785468045683771102224373-102224380
167UNG120.975583864118923942109535485-109535490, 109535562-109535569, 109547713-109547721
168MMAB120.9747675962815419753109998852, 109998864-109998878, 110011265-110011267
169TRPV4120.96406727828746942616110221427-110221450, 110224592, 110230590-110230594, 110240860, 110240866-110240869, 110246116-110246120, 110246159-110246173, 110252336-110252340, 110252436-110252445, 110252573-110252596
170MYL2120.9640718562874318501111348881-111348884, 111348945-111348947, 111348969-111348979
171ATXN2120.832572298325726603942111891495-111891501, 112036598-112037140, 112037183-112037189, 112037203-112037238, 112037252-112037318
172SDS120.990881458966579987113835175-113835182, 113836574
173TBX3120.9959677419354892232115109873, 115109878-115109885
174ACADS120.99031476997579121239121176658, 121176679, 121176954-121176961, 121177222-121177223
175HNF1A120.97679324894515441896121416574-121416577, 121416620-121416625, 121434190-121434197, 121435277-121435298, 121437392-121437395
176PUS1120.98753894080997161284132414279, 132414290-132414292, 132414304-132414314, 132416839
177SACS130.9990538573508131374023908434-23908439, 23949258-23949259, 23949268-23949271, 23949283
178PDX1130.99178403755869785228494583-28494587, 28494591, 28494596
179B3GALTL130.987307949231819149731774234-31774236, 31774253-31774268
180FREM2130.995057833859147951039261568-39261570, 39261626-39261629, 39261773-39261798, 39261849-39261853, 39261859, 39261928-39261932, 39262057-39262059
181SUCLA2130.994971264367827139248528379, 48575327-48575332
182RB1130.998205956225335278748878105, 48878114-48878117
183RNASEH2B130.99574014909478493951484213-51484216
184ATP7B130.998863119599825439852523871-52523873, 52524278, 52524418
185GPC6130.997002398081535166893879773, 93879777-93879778, 93879868-93879869
186ZIC2130.774859287054413601599100634319-100634335, 100634374-100634419, 100634443-100634473, 100634584-100634606, 100634691-100634696, 100634716, 100634739-100634759, 100634814-100634821, 100634922-100634924, 100634934, 100635008-100635010, 100635058-100635077, 100637638-100637642, 100637699-100637872, 100637877
187PCCA130.99314128943759152187100764302-100764305, 101101506-101101509, 101101535-101101541
188ERCC5130.98395848077377684239103468868-103468872, 103508438-103508459, 103514001-103514003, 103514628, 103519140-103519176
189COL4A1130.99161676646707425010110864261, 110959334-110959374
190F7130.295880149812739401335113760156-113760219, 113765011, 113765017-113765019, 113765022-113765023, 113765041-113765128, 113765135, 113765162-113765164, 113768243-113768269, 113769974-113769980, 113769988-113770101, 113771113-113771114, 113771133, 113771139, 113771787-113771806, 113771814-113771856, 113771862-113771890, 113772727-113772755, 113772759, 113772763, 113772779-113772877, 113772887-113773112, 113773133-113773268, 113773281-113773322
191F10130.828902522154062511467113777171-113777172, 113777180, 113777183-113777193, 113777203-113777234, 113795288-113795291, 113798188, 113798219-113798239, 113798328-113798343, 113798369, 113798374-113798375, 113798382, 113798390, 113803231-113803252, 113803255-113803260, 113803295-113803314, 113803341, 113803365-113803427, 113803496, 113803499-113803508, 113803539, 113803565-113803573, 113803580, 113803611-113803613, 113803619, 113803664-113803666, 113803686-113803701, 113803827
192GRK1130.832151300236412841692114321748-114321749, 114321759, 114321764-114321808, 114321853-114321872, 114321890-114321902, 114321916-114321951, 114322021-114322038, 114322109-114322124, 114322190-114322208, 114322217-114322218, 114322230-114322259, 114322289, 114322293-114322294, 114322331, 114324107-114324113, 114324121, 114324125, 114325859-114325866, 114325870-114325888, 114325938-114325971, 114426076, 114426081-114426083, 114426086-114426089
193TEP1140.999238964992396788420851769-20851774
194SLC7A7140.999348958333331153623282127
195PABPN1140.959826275787193792123790679-23790714, 23790921
196NRL140.99159663865546671424550596, 24551773, 24551778-24551781
197TINF2140.996312684365785135624711483-24711487
198TGM1140.9792176039119851245424724230-24724232, 24724287-24724289, 24724292-24724307, 24724420-24724422, 24724426-24724436, 24727516-24727520, 24727786-24727789, 24731417-24731421, 24731453
199FOXG1140.83401360544218244147029236659, 29236662, 29236689-29236711, 29236744-29236750, 29236759-29236970
200NKX2-1140.9834162520729720120636986575-36986583, 36986898, 36988363-36988367, 36988373, 36988390-36988393
201C14orf104140.92084327764519199251450092680-50092687, 50100376, 50100602-50100615, 50100681-50100688, 50100809-50100812, 50100819-50100820, 50100900-50100903, 50100972-50101025, 50101082-50101107, 50101130-50101137, 50101261-50101269, 50101352, 50101459-50101479, 50101535-50101566, 50101682, 50101686-50101691
202PYGL140.9960691823899410254451381424, 51410951, 51411049-51411056
203GCH1140.8034528552456814875355369090-55369163, 55369190-55369199, 55369205, 55369215, 55369221-55369249, 55369252-55369254, 55369269-55369298
204SYNE2140.9998069870681342072464679641-64679644
205VSX2140.9263351749539680108674706305-74706311, 74706349, 74706417-74706434, 74706439-74706448, 74706459-74706463, 74706474-74706475, 74706515-74706521, 74706605-74706634
206TGFB3140.997578692493953123976447001-76447003
207ESRRB140.997380484610354152776957887, 76964610, 76964717-76964718
208POMT2140.92276964047936174225377744773-77744776, 77744781, 77744801-77744803, 77745082, 77745189-77745212, 77786780-77786802, 77786830-77786841, 77786873-77786917, 77786927-77786975, 77787002-77787013
209GALC140.996598639455787205888459421-88459425, 88459429, 88459438
210AMN140.02055800293685813341362103389026-103389068, 103390048-103390101, 103390122-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396281, 103396290-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
211INF2140.4954666666666718923750105167703-105167708, 105167724-105167727, 105167764-105167779, 105167782, 105167798-105167830, 105167872-105167894, 105167910, 105167917-105167965, 105167978, 105168009-105168016, 105169466, 105169469, 105169505-105169514, 105169551-105169557, 105169632-105169652, 105169656-105169669, 105169683-105169701, 105169716-105169720, 105169728-105169733, 105169748-105169791, 105170253-105170278, 105172372-105172409, 105172457-105172471, 105172481-105172510, 105173336, 105173350-105173364, 105173633, 105173693-105173699, 105173702, 105173708, 105173711-105173716, 105173724-105173734, 105173745-105173799, 105173807-105173837, 105173848, 105173858-105173860, 105173863-105173868, 105173874-105173893, 105173907-105174190, 105174200-105174339, 105174773-105174777, 105174801-105174839, 105174849-105174870, 105174890-105174924, 105175065-105175069, 105175618-105175623, 105175655-105175660, 105175957-105175969, 105175996-105176042, 105176425-105176525, 105177274-105177280, 105177416-105177425, 105177431, 105177441-105177454, 105177476-105177523, 105178004-105178017, 105178020-105178023, 105178032-105178036, 105178817-105178861, 105178871-105178890, 105179171-105179199, 105179208-105179238, 105179254-105179277, 105179323-105179327, 105179591-105179608, 105179622-105179646, 105179782-105179791, 105179823-105179864, 105179918-105179943, 105180547-105180573, 105180611-105180643, 105180670-105180681, 105180729-105180733, 105180776-105180777, 105180780-105180791, 105180798, 105180807, 105180859, 105180918-105180963, 105181008-105181033, 105181049-105181101, 105181109-105181145, 105181177-105181193
212NIPA1150.8202020202020217899023086234-23086411
213OCA2150.999602701628921251728326978
214TRPM1150.999792186201161481231320598
215CHST14150.89389920424403120113140763427-40763454, 40763468, 40763472, 40763476, 40763478-40763493, 40763517-40763529, 40763551-40763556, 40763572, 40763577-40763579, 40763582-40763598, 40763679-40763687, 40763690-40763712, 40764444
216CDAN1150.9831704668838262368443021794-43021795, 43022919, 43028665-43028670, 43028677-43028686, 43028713-43028714, 43028799-43028800, 43028807-43028827, 43029276-43029293
217TTBK2150.999464524765732373543038001, 43103934
218STRC150.999249249249254532843892272, 43910867-43910869
219SPG11150.999045280960177733244859736-44859738, 44864895, 44864903, 44867130, 44955741
220DUOX2150.9924682590918935464745392333, 45392416-45392425, 45398398-45398401, 45403624, 45403689-45403695, 45403698-45403706, 45403715, 45403758, 45403779
221GATM150.987421383647816127245670599, 45670614-45670627, 45670630
222FBN1150.999303621169926861648936952-48936956, 48936961
223SPG21150.99137001078749892765275845-65275852
224MAP2K1150.996615905245354118266679743-66679746
225CLN6150.963675213675213493668500479-68500494, 68521844, 68521851-68521858, 68521871, 68521915-68521922
226NR2E3150.995471014492755110472103132-72103136
227HCN4150.83416389811739599361273614878, 73614885-73614890, 73616209, 73659924-73659931, 73659969, 73659980-73660059, 73660074-73660141, 73660148-73660307, 73660314-73660396, 73660406-73660480, 73660488-73660493, 73660502-73660611
228PSTPIP1150.170263788968821038125177310489-77310535, 77310579-77310589, 77310822, 77310827, 77310831-77310872, 77317638-77317659, 77317854, 77317859-77317901, 77317909, 77317919-77317934, 77317945, 77320193-77320206, 77320220-77320255, 77320900-77320993, 77321877, 77321898-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
229RPS17150.9828431372549740882823387-82823393
230RPS17150.9828431372549740883207730-83207736
231POLG150.9827956989247364372089866658-89866659, 89872036-89872039, 89876467-89876470, 89876619, 89876680-89876685, 89876746, 89876797-89876842
232MESP2150.40871021775544706119490319589-90319624, 90319639-90319896, 90319927-90319940, 90319949-90320068, 90320078-90320126, 90320134, 90320146-90320148, 90320161, 90320173, 90320182-90320188, 90320204-90320234, 90320241-90320253, 90320269-90320311, 90320353-90320354, 90320359, 90320368-90320381, 90320385-90320387, 90320391-90320406, 90320411-90320414, 90320426, 90320435-90320504, 90321403, 90321420, 90321488-90321495, 90321505, 90321509, 90321560-90321565
233BLM150.97461212976023108425491292823-91292827, 91303892-91303908, 91304163, 91337439-91337476, 91337516-91337562
234VPS33B150.996763754045316185491548930-91548932, 91565398-91565400
235IGF1R150.9926900584795330410499192871-99192900
236HBZ160.72027972027972120429202963-202991, 203961-203964, 203967, 203987, 204033, 204076-204095, 204271-204334
237HBA2160.72027972027972120429222926-222930, 222939-223006, 223179, 223182, 223190, 223231-223262, 223301-223303, 223309, 223312, 223325, 223328, 223472-223476
238GNPTG160.706971677559912699181401967-1402018, 1402103-1402125, 1402142-1402160, 1402240-1402307, 1411765-1411798, 1411919-1411932, 1412048-1412056, 1412062, 1412224, 1412268-1412283, 1412296-1412321, 1412479-1412482, 1412487-1412488
239CLCN7160.35111662531017156924181496632-1496644, 1496662-1496718, 1497007-1497087, 1497393-1497568, 1497656-1497681, 1497689-1497695, 1497705-1497715, 1498356-1498485, 1498682-1498767, 1498969-1499094, 1499277-1499328, 1500498-1500557, 1500580-1500646, 1500658-1500667, 1501624-1501661, 1501713-1501717, 1502756-1502894, 1503841-1503861, 1503873-1503876, 1503879, 1504412-1504444, 1504459-1504466, 1505146-1505175, 1505229-1505236, 1505732, 1505756-1505782, 1506114-1506192, 1506205-1506207, 1507331-1507338, 1507736-1507757, 1509108-1509128, 1509150-1509188, 1510859-1510899, 1511444-1511445, 1511458-1511459, 1511462, 1511465-1511469, 1511611-1511612, 1511621-1511625, 1524835-1524948, 1524968-1524975
240IGFALS160.16356107660455161619321840601-1840678, 1840689-1840709, 1840715, 1840718-1840729, 1840731-1840743, 1840751, 1840774-1840856, 1840875-1840973, 1840988-1841036, 1841051-1841149, 1841152-1841194, 1841226-1841258, 1841276-1841364, 1841375-1841751, 1841764, 1841767, 1841774-1841779, 1841801-1842054, 1842061-1842095, 1842113-1842156, 1842167-1842176, 1842181-1842185, 1842188-1842190, 1842200-1842205, 1842209, 1842235-1842281, 1842287-1842348, 1842358-1842402, 1842431-1842516, 1843642-1843653
241GFER160.229773462783174766182034220-2034477, 2034748-2034774, 2034793-2034819, 2034824, 2034836-2034839, 2034843-2034902, 2034915-2034944, 2035867-2035876, 2035889, 2035920-2035940, 2035950-2035953, 2035957-2035958, 2035966-2035995, 2035999
242TSC2160.21681415929204424854242098617-2098622, 2098630-2098634, 2098651-2098657, 2098663-2098701, 2098716-2098722, 2098749-2098754, 2100401-2100434, 2100459-2100484, 2103343-2103453, 2104297-2104313, 2104362, 2104382, 2104401-2104436, 2106197-2106218, 2106659, 2106762, 2108755-2108802, 2108814, 2108823-2108825, 2108834-2108835, 2108843, 2110671-2110682, 2110713-2110754, 2110771-2110814, 2111879, 2111891, 2111904-2111907, 2111933, 2111979-2111981, 2112498-2112570, 2112585-2112595, 2112973-2113054, 2114326, 2114352-2114375, 2114381-2114428, 2115535-2115607, 2115618-2115636, 2120457-2120460, 2120467-2120579, 2121521-2121557, 2121562-2121565, 2121576-2121617, 2121785-2121792, 2121837-2121929, 2122242-2122278, 2122309, 2122314-2122364, 2122863-2122961, 2124201-2124258, 2124277-2124390, 2125800-2125827, 2125854-2125893, 2126069-2126072, 2126088, 2126105-2126116, 2126136-2126171, 2126492-2126586, 2127599-2127680, 2127703-2127727, 2129033-2129110, 2129119-2129197, 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
243PKD1160.00131660470879812895129122139728-2140195, 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, 2185476-2185495, 2185503, 2185506-2185616, 2185625-2185690
244ABCA3160.8357771260997184051152326738, 2326751, 2327607-2327615, 2327623, 2327953, 2327957, 2328370-2328386, 2328409-2328411, 2328419-2328420, 2328975-2329022, 2329040-2329055, 2329091, 2329105, 2329110, 2329113, 2329120, 2331029, 2331038, 2331041-2331042, 2331079-2331085, 2331126-2331183, 2331503-2331508, 2333192-2333237, 2333254-2333256, 2333289-2333338, 2333355-2333359, 2334322-2334393, 2334820-2334837, 2334943-2334964, 2334975-2334999, 2335451, 2335456, 2335516, 2335521, 2335547-2335580, 2338054, 2338077-2338088, 2338092, 2338100-2338101, 2338293-2338295, 2339553, 2339556, 2339592-2339595, 2342141-2342159, 2345596-2345623, 2345645, 2345676, 2345679, 2345711, 2347372-2347385, 2347391-2347446, 2347489-2347540, 2347767-2347774, 2347778-2347784, 2347800-2347804, 2347826-2347839, 2347867, 2347893-2347922, 2348387-2348406, 2348420, 2348477, 2348518-2348541, 2349416, 2349422, 2349442-2349466, 2350006-2350009, 2350016, 2354099-2354101, 2354108, 2367745-2367763, 2369652, 2369734-2369746, 2373534, 2374411-2374412
245MEFV160.970161977834617023463293638-3293644, 3297060-3297061, 3304208-3304215, 3304428-3304431, 3304438, 3304446-3304457, 3304498-3304523, 3304581, 3304611, 3304671-3304678
246SLX4160.9431425976385131355053632525-3632537, 3633153-3633159, 3633362-3633392, 3634804, 3639256-3639276, 3639347, 3639356-3639358, 3639363-3639365, 3639447-3639459, 3639474-3639506, 3639760-3639782, 3639861-3639898, 3642790, 3642799, 3642815-3642829, 3644578-3644580, 3645606-3645617, 3646165-3646172, 3646183-3646215, 3646249-3646250, 3646255, 3646286, 3647551, 3647555, 3647563-3647569, 3647579, 3647905, 3647909, 3647912, 3647967, 3651061, 3652169-3652180, 3656495, 3656552-3656553, 3656570, 3656582-3656590, 3656605, 3656616-3656617, 3656650-3656654, 3658651
247CREBBP160.968754263883222973293777750, 3777760-3777778, 3777805-3777827, 3778158-3778172, 3778310, 3778379-3778392, 3778407-3778415, 3778440-3778442, 3778449, 3778568-3778583, 3778641-3778675, 3778789-3778793, 3778894, 3778897, 3778953-3779014, 3779185-3779194, 3779257, 3779410-3779412, 3779441-3779448, 3779490
248GLIS2160.17968253968254129215754382288-4382333, 4382357-4382400, 4382412-4382453, 4383348-4383349, 4383367-4383379, 4383392-4383395, 4383403, 4383406, 4383444-4383502, 4383513-4383517, 4384809-4384874, 4384884, 4384892-4384908, 4384938, 4384952-4384965, 4384969, 4385061-4385080, 4385094-4385170, 4385179-4385194, 4385290-4385347, 4385356-4385394, 4386726-4386742, 4386766-4386837, 4386850-4387525
249ALG1160.7727598566308231713955121865-5121883, 5128774-5128813, 5128819-5128879, 5129073-5129095, 5130947-5131047, 5132587-5132606, 5132636, 5133687, 5133746, 5134780, 5134813-5134846, 5134868-5134882
250MYH11160.9929292929292942594015797893-15797908, 15797935, 15797962, 15811121, 15815304, 15818526, 15820759-15820765, 15820769, 15826435, 15826532-15826534, 15839045-15839051, 15850204, 15850301
251ABCC6160.81272163120567845451216244040-16244043, 16244448, 16244481, 16244549-16244556, 16253339-16253371, 16253439-16253440, 16255295-16255387, 16255396, 16256850-16256855, 16256898-16256902, 16256964, 16256967, 16256970-16256978, 16256993-16256995, 16257001, 16257004-16257007, 16257009, 16257012-16257049, 16259480-16259623, 16259632-16259646, 16259674-16259680, 16259699-16259721, 16259728, 16259772-16259790, 16263503-16263563, 16263585-16263588, 16263599-16263627, 16263652-16263710, 16267141-16267144, 16267202-16267214, 16267217-16267219, 16267225, 16267228-16267231, 16267241-16267248, 16269768-16269770, 16269774-16269817, 16271317-16271319, 16271346-16271373, 16271377-16271382, 16271409-16271439, 16271444-16271475, 16272689-16272696, 16272817-16272818, 16276335-16276346, 16276404, 16276711-16276718, 16276752-16276771, 16313504-16313515, 16317256-16317283
252UMOD160.94539781591264105192320359819-20359821, 20359878-20359889, 20359987-20359990, 20359994-20359998, 20360006, 20360061-20360071, 20360101, 20360112-20360116, 20360123-20360129, 20360237-20360260, 20360301-20360327, 20360462, 20360519-20360522
253COG7160.997405966277566231323403701-23403706
254PALB2160.999719180005621356123635370
255CLN3160.9878511769172416131728497707-28497720, 28499936, 28500693
256TUFM160.9649122807017548136828857338-28857346, 28857379-28857390, 28857539-28857540, 28857551-28857575
257ATP2A1160.9850299401197645300628893781-28893787, 28895899, 28895944-28895966, 28898510-28898522, 28898553
258PHKG2160.9983619983622122130760155, 30768348
259VKORC1160.93699186991873149231105954-31105982, 31106049-31106050
260FUS160.9671094244149352158131195290-31195296, 31195602-31195646
261SLC5A2160.9856364536899529201931500050-31500075, 31500456-31500457, 31500525
262NOD2160.95805315401857131312350733417-50733419, 50733452, 50744685, 50744813-50744835, 50744995, 50745092, 50745116, 50745216, 50745223-50745228, 50745338, 50745472-50745476, 50745483, 50745488, 50745517-50745518, 50745521-50745536, 50745546-50745547, 50745550-50745556, 50745795, 50745799-50745802, 50745805-50745818, 50745841-50745876, 50745886, 50746185, 50746236
263SALL1160.998993710691824397551175658-51175661
264MMP2160.999495713565311198355513422
265SLC12A3160.9851277077271346309356921002-56921005, 56921860-56921901
266GPR56160.999515503875971206457689348
267TK2160.976190476190482292466583955-66583959, 66583994, 66584002, 66584006-66584016, 66584048-66584051
268HSD11B2160.78653530377668260121867465152-67465356, 67465362-67465416
269LCAT160.81783824640967241132367973815-67973849, 67973881-67973885, 67973890, 67973940-67973942, 67973967-67973986, 67974000-67974013, 67974038-67974044, 67974102-67974103, 67974160-67974174, 67974191, 67974195, 67974210-67974212, 67974267-67974268, 67974289-67974291, 67976363-67976364, 67976408, 67976457-67976489, 67976586-67976628, 67976775-67976783, 67976791, 67976850, 67976860, 67976870, 67976876-67976879, 67976967-67976986, 67977058-67977065, 67977986-67977990
270CDH3160.9622489959839494249068716297, 68718573-68718585, 68718611-68718613, 68718661-68718669, 68719124-68719129, 68719197-68719213, 68721492, 68721499-68721518, 68725667, 68725743-68725745, 68725751, 68725780-68725793, 68729680-68729684
271CDH1160.9830124575311445264968771319-68771363
272COG8160.87656334964655227183969364763-69364764, 69364777-69364826, 69364863-69364872, 69364917-69364925, 69368484-69368489, 69368944-69368948, 69373082, 69373087-69373089, 69373101-69373136, 69373176-69373184, 69373219-69373231, 69373237, 69373265-69373270, 69373309-69373350, 69373361-69373370, 69373373-69373377, 69373409-69373427
273AARS160.9666322669418697290770291953-70291957, 70294973-70294989, 70296289, 70296292, 70296307-70296309, 70298945, 70302250, 70303523, 70303537-70303540, 70303550-70303552, 70304121-70304162, 70305766, 70316566, 70316569-70316584
274GCSH160.7547892720306512852281129736-81129751, 81129772-81129883
275GAN160.9899665551839518179481348756-81348773
276MLYCD160.90148448043185146148283932810-83932825, 83932874-83932885, 83932910-83932924, 83932978-83933006, 83933062-83933114, 83933131, 83933144-83933163
277FOXF1160.67105263157895375114086544199-86544205, 86544216-86544238, 86544252-86544274, 86544362-86544420, 86544498-86544514, 86544546, 86544580, 86544594, 86544598-86544604, 86544607-86544611, 86544617-86544619, 86544672, 86544723-86544761, 86544783, 86544786-86544792, 86544828-86544885, 86544920-86544958, 86544970-86544977, 86544980-86544985, 86544996-86544998, 86545065-86545071, 86545105-86545116, 86546583-86546609, 86546650-86546667, 86546690-86546691
278FOXC2160.88313413014608176150686601018-86601025, 86601092-86601112, 86601140-86601146, 86601422-86601445, 86601513-86601519, 86601694-86601707, 86601771-86601774, 86601777-86601817, 86601823, 86601828-86601838, 86601859-86601868, 86601976-86601981, 86602063-86602067, 86602081, 86602186-86602201
279JPH3160.57899421450823946224787636878-87636892, 87677869-87677914, 87678019-87678022, 87678077-87678083, 87678130-87678149, 87678216, 87678272-87678297, 87678397, 87678410-87678414, 87678575, 87678583-87678601, 87678626-87678630, 87717760-87717777, 87717796-87717840, 87723252-87723263, 87723269-87723377, 87723389-87723390, 87723400-87723510, 87723522-87723577, 87723584-87723626, 87723652-87723682, 87723695-87723806, 87723820-87723854, 87723872, 87723895-87724097, 87724122-87724132, 87730190-87730196
280CYBA160.3571428571428637858888709761-88709934, 88709944-88709979, 88712524-88712559, 88712581-88712600, 88713509-88713532, 88713542, 88713549-88713551, 88713569-88713583, 88714453-88714467, 88714510-88714522, 88717364-88717403, 88717414
281APRT160.5340699815837925354388876149-88876167, 88876183-88876216, 88876497-88876502, 88876525-88876552, 88876834-88876883, 88876902-88876914, 88876922-88876934, 88876957-88876961, 88877958-88877962, 88877978, 88877988-88877992, 88877997-88878002, 88878005-88878015, 88878018-88878019, 88878043-88878047, 88878052-88878064, 88878252-88878253, 88878259-88878276, 88878291-88878307
282GALNS160.76545570427024368156988880868, 88884417, 88884452, 88884469-88884532, 88888997-88889003, 88889017, 88889028, 88889031-88889041, 88889095-88889118, 88891222-88891234, 88891243-88891270, 88893188-88893189, 88893196-88893212, 88907418-88907453, 88908315, 88908347, 88908365-88908366, 88909176-88909212, 88923166-88923285
283SPG7160.94472361809045132238889574826-89574829, 89574840, 89574985, 89574993-89574994, 89575007, 89598338, 89598367-89598368, 89598376-89598383, 89614440-89614460, 89614490-89614504, 89614516-89614521, 89619510-89619518, 89620339, 89620352-89620368, 89620951, 89623325, 89623459-89623499
284FANCA160.96153846153846168436889805020-89805026, 89805052-89805056, 89805112-89805116, 89806411, 89806419, 89807224, 89807233-89807234, 89809270-89809271, 89811384, 89811442, 89813039-89813042, 89815132-89815139, 89825042-89825058, 89833565-89833571, 89837015, 89837020, 89837026-89837035, 89838106-89838113, 89838138, 89839754-89839759, 89842158-89842171, 89882304-89882328, 89882945-89882948, 89882969-89882971, 89882974, 89882985-89883016
285TUBB3160.6969696969697410135389989811-89989819, 89989832-89989866, 89999004-89999012, 89999017-89999030, 89999061-89999062, 89999085-89999086, 89999889-89999914, 90001142, 90001154-90001158, 90001248-90001254, 90001317, 90001474, 90001477, 90001481-90001487, 90001497, 90001560-90001563, 90001568-90001571, 90001596, 90001644, 90001667-90001695, 90001701-90001799, 90001807-90001809, 90001820-90001833, 90001845, 90001849, 90001861-90001863, 90001877-90001886, 90001889-90001896, 90001921-90001934, 90001963-90001971, 90001994-90002029, 90002053-90002061, 90002116, 90002121-90002125, 90002151-90002157, 90002171-90002200
286PRPF8170.992865296803655070081557208, 1587766-1587774, 1587817-1587823, 1587833-1587865
287CTNS170.965918536990864112033559802-3559816, 3560021-3560046
288CHRNE170.6990553306342844614824802047-4802096, 4802123-4802141, 4802147-4802152, 4802177-4802186, 4802318-4802333, 4802359-4802383, 4802391-4802402, 4802493-4802505, 4802517-4802548, 4802558, 4802561, 4802564-4802565, 4802570-4802573, 4802589-4802651, 4802659-4802666, 4802763-4802775, 4802812-4802816, 4802821, 4804089-4804141, 4804285-4804309, 4804375-4804412, 4804422-4804458, 4805308-4805310, 4805378-4805381, 4805536-4805540
289GP1BA170.99895833333333219204837212-4837213
290AIPL1170.974891774891772911556329991-6329999, 6330218, 6331681-6331690, 6331703-6331704, 6331750-6331756
291PITPNM3170.9377777777777818229256358665-6358703, 6358716-6358758, 6358785-6358800, 6358830-6358858, 6358899, 6358911-6358916, 6358921-6358925, 6367551-6367557, 6374509-6374515, 6382030-6382036, 6459705-6459726
292ACADVL170.992886178861791419687123343-7123349, 7125273-7125279
293CHRNB1170.979415670650733115067348448-7348466, 7348589-7348599, 7359911
294GUCY2D170.9658816425120811333127906372-7906398, 7906564-7906568, 7906655-7906685, 7906697, 7906752-7906754, 7906766-7906794, 7906949-7906956, 7907176-7907184
295ALOX12B170.99762583095916521067982743, 7983106, 7983115, 7983118-7983119
296ALOXE3170.99719101123596621368013770-8013775
297HES7170.86725663716814906788024899-8024911, 8024955-8024985, 8024992-8025020, 8025207, 8025296-8025311
298MYH2170.9979402677651912582610429078-10429089
299MYH3170.999313068864854582310532920-10532922, 10555754
300ELAC2170.997984683595325248112906814-12906818
301COX10170.999249249249251133214110268
302TNFRSF13B170.985260770975061388216843765-16843767, 16843777-16843786
303FLCN170.9620689655172466174017116969-17116973, 17117061, 17117134, 17118614, 17118617, 17118630, 17119730, 17125889-17125899, 17127346-17127352, 17127396, 17129494-17129498, 17131212-17131213, 17131217-17131220, 17131226, 17131232-17131248, 17131283-17131289
304RAI1170.84216046145779903572117696445-17696448, 17696455-17696461, 17696480, 17696774-17696820, 17697094-17697096, 17697186-17697211, 17697232-17697239, 17697522-17697529, 17697588-17697641, 17697684, 17697721-17697742, 17697808-17697829, 17697864-17697870, 17697876-17697881, 17698034-17698058, 17698085, 17698109-17698152, 17698163-17698191, 17698201-17698215, 17698235-17698236, 17698246-17698250, 17698254, 17698295, 17698309-17698310, 17698314, 17698467-17698468, 17698520-17698559, 17698589, 17698594, 17698638, 17698730-17698753, 17698782-17698808, 17698811, 17698821-17698822, 17698826, 17698829-17698839, 17698844-17698849, 17698862-17698883, 17698949-17698960, 17699002, 17699021, 17699170-17699176, 17699255-17699263, 17699267, 17699281-17699314, 17699317-17699318, 17699389-17699391, 17699428-17699468, 17699499-17699500, 17699503, 17699509-17699521, 17699542, 17699548, 17699613, 17699620-17699634, 17699661-17699692, 17699733-17699759, 17699830-17699848, 17699929-17699970, 17700023-17700025, 17700349-17700351, 17700647, 17700678-17700683, 17700953, 17701013-17701014, 17701069, 17701180-17701183, 17701286-17701289, 17701439-17701458, 17701533, 17701562-17701615, 17701704, 17707105, 17707126-17707154, 17712732, 17712741-17712753, 17713284-17713295
305MYO15A170.8381006324931617151059318022236, 18022268-18022308, 18022356-18022363, 18022446, 18022464, 18022484, 18022554-18022563, 18022617, 18022634, 18022868-18022869, 18022905-18022920, 18023083-18023128, 18023323-18023345, 18023395, 18023415-18023445, 18023470-18023483, 18023486, 18023558-18023582, 18023631-18023697, 18023716-18023717, 18023722, 18023733-18023760, 18023769-18023803, 18023847-18023862, 18023890-18023891, 18023900-18023962, 18023973-18023975, 18023978, 18023982, 18023987-18024069, 18024078-18024089, 18024105-18024306, 18024333-18024334, 18024349-18024479, 18024484, 18024493, 18024529-18024531, 18024541-18024585, 18024598-18024696, 18024717, 18024721-18024865, 18024886-18024894, 18024897-18024899, 18024912-18024928, 18024945-18025007, 18025023-18025029, 18025051-18025096, 18025120-18025125, 18025138-18025175, 18025186-18025194, 18025309-18025337, 18025343-18025392, 18025399-18025429, 18025452-18025485, 18025559-18025583, 18025658-18025660, 18025682-18025713, 18039904, 18044977, 18045402-18045412, 18045443, 18046885, 18047078-18047084, 18049245, 18057100-18057107, 18057160-18057163, 18057167, 18057201-18057202, 18061042-18061052, 18061057, 18061094-18061101, 18061105-18061108, 18061144-18061148, 18061155, 18061178, 18070904-18070927, 18070933-18070984
306ALDH3A2170.996070726915526152719552352-19552357
307UNC119170.875518672199179072326874701-26874702, 26875064, 26879375, 26879422-26879458, 26879480-26879503, 26879543-26879549, 26879558-26879575
308NEK8170.9951899951910207927067965-27067969, 27067979, 27067984, 27067990, 27068553, 27068560
309SLC6A4170.9894347596407820189328543187-28543195, 28543224-28543234
310NF1170.998122065727716852029422328-29422343
311HNF1B170.991039426523315167436104828-36104842
312TCAP170.84523809523817850437821682-37821688, 37821969-37821970, 37822045-37822074, 37822087-37822105, 37822143-37822156, 37822335-37822340
313KRT10170.99943019943021175538978462
314KRT13170.9883805374001516137739657974-39657977, 39661777-39661788
315KRT14170.68498942917548447141939738757-39738763, 39739487-39739515, 39739568-39739574, 39739642-39739672, 39739846-39739881, 39740091-39740097, 39740527-39740533, 39741304-39741309, 39742562-39742585, 39742627-39742683, 39742718, 39742784-39742836, 39742846-39742872, 39742883-39742921, 39742945-39742973, 39742983-39743032, 39743050-39743086
316KRT16170.62728551336146530142239766187-39766198, 39766219-39766255, 39766265-39766281, 39766585-39766616, 39766636-39766677, 39766764, 39767106-39767129, 39767597, 39767642-39767662, 39767684, 39767698, 39767705, 39767712-39767714, 39767724, 39767738-39767753, 39767908, 39768412-39768453, 39768471-39768496, 39768623-39768664, 39768687-39768729, 39768740-39768753, 39768764-39768808, 39768816-39768822, 39768836-39768881, 39768887-39768940
317KRT17170.48344880677444671129939776809-39776810, 39776911-39776932, 39776945, 39776957-39776998, 39777004, 39777009, 39777011-39777024, 39777045-39777077, 39777094, 39777218-39777231, 39777270-39777281, 39777299-39777324, 39777329, 39777335-39777336, 39777845-39777846, 39777902-39777923, 39777974-39778006, 39778607-39778615, 39778705-39778725, 39779217, 39779266-39779284, 39780330-39780420, 39780433-39780481, 39780510-39780761
318JUP170.9950848972296711223839919250-39919251, 39919356, 39919360, 39919524-39919526, 39919570-39919573
319FKBP10170.9777015437392839174939969297-39969311, 39969330-39969347, 39977233-39977238
320STAT5B170.9885786802030527236440371438-40371453, 40371737-40371747
321NAGLU170.93413978494624147223240688358-40688372, 40688382-40688394, 40688397-40688414, 40688445-40688476, 40688485-40688504, 40688511-40688549, 40688583-40688592
322BRCA1170.9982316534040710565541219660-41219661, 41258478-41258485
323NAGS170.9426791277258692160542082045, 42082131-42082155, 42083460-42083468, 42083475-42083509, 42083569-42083575, 42084043-42084057
324SLC4A1170.987573099415234273642328573-42328581, 42328655-42328658, 42328670, 42331975, 42334734-42334739, 42334843-42334846, 42335087, 42335098-42335103, 42337201-42337202
325GRN170.84680134680135273178242426658-42426669, 42426841-42426842, 42427035, 42427044, 42427057-42427060, 42427817-42427818, 42427834-42427840, 42428147-42428152, 42428783-42428798, 42428801-42428805, 42428809, 42428814-42428817, 42428922-42428951, 42429154-42429161, 42429388-42429410, 42429414-42429427, 42429505-42429520, 42429536-42429537, 42429555-42429580, 42429709-42429716, 42429723-42429725, 42429826, 42429899-42429905, 42429922-42429926, 42430037-42430039, 42430043, 42430048-42430072, 42430100-42430128, 42430156-42430166
326ITGA2B170.86987179487179406312042451826-42451828, 42451835-42451838, 42452113-42452128, 42452427-42452445, 42452469-42452479, 42452979-42453003, 42453035-42453041, 42453455-42453465, 42453512-42453518, 42453688, 42453713-42453722, 42457478-42457479, 42457843-42457847, 42460959-42460960, 42460999, 42461015, 42461030-42461033, 42461037-42461049, 42461496-42461502, 42461929-42461935, 42462329, 42462367, 42462408-42462429, 42462532-42462577, 42462680-42462703, 42462919-42462941, 42462971-42462991, 42463031-42463054, 42463192-42463228, 42463242-42463263, 42463441-42463465, 42466811-42466814
327MAPT170.9695409695409771233144055772-44055800, 44061160-44061180, 44061241-44061260, 44073800
328WNT3170.9859550561797815106844851246-44851258, 44895935-44895936
329SGCA170.993127147766328116448252715-48252722
330COL1A1170.999317406143343439548264025-48264027
331NOG170.99713876967096269954671596, 54671784
332RAD51C170.998231653404072113156770067, 56787336
333TRIM37170.99930915371332289557105922-57105923
334AP1S2170.99839743589744162458180079
335CA4170.99041533546326993958227425-58227433
336TBX4170.9963369963376163859534021-59534026
337ACE170.93037490436113273392161554459, 61554464, 61554468-61554602, 61554605-61554606, 61554647-61554668, 61554677-61554681, 61554693-61554704, 61555326, 61555405, 61557160-61557161, 61557847-61557851, 61557882-61557883, 61558957-61558960, 61560470-61560519, 61564049, 61564052-61564055, 61564058, 61566110-61566118, 61566382, 61566482-61566484, 61574564-61574574
338TACO1170.99217002237136789461678455, 61678464-61678468, 61678481
339GH1170.99235474006116565461994676, 61995263-61995266
340SCN4A170.999092723643625551162018222, 62018294, 62025984, 62043856-62043857
341POLG2170.997256515775034145862473975-62473978
342AXIN2170.997235387045817253263534334-63534340
343COG1170.9874277947672437294371189226-71189232, 71189278-71189299, 71189429, 71189492-71189496, 71199268-71199269
344DNAI2170.9796479647964837181872305392-72305395, 72305464-72305472, 72306169-72306175, 72306207-72306212, 72308214-72308217, 72308327-72308333
345USH1G170.9516594516594567138672915603, 72915620-72915625, 72916115-72916126, 72916165-72916172, 72916179, 72916182, 72916214, 72916456-72916492
346TSEN54170.76976597090449364158173512642-73512648, 73512650-73512657, 73512670-73512697, 73512827-73512991, 73513109, 73513124-73513153, 73513288-73513323, 73518015-73518021, 73518284, 73518287-73518288, 73518315-73518381, 73518384-73518395
347ITGB4170.688059974401171706546973726325-73726381, 73726404-73726425, 73726437, 73726466-73726488, 73726571-73726585, 73726956-73726970, 73726980-73726985, 73726988-73726989, 73726993-73727035, 73727327, 73727332-73727335, 73727396-73727420, 73727433-73727449, 73728031, 73728291, 73728294, 73729628, 73729643-73729645, 73732213-73732220, 73732419-73732422, 73732432-73732433, 73732461-73732463, 73732669-73732673, 73732686, 73733627, 73733661-73733701, 73735766, 73736007-73736046, 73736087, 73736113, 73736134-73736141, 73736439-73736452, 73736489, 73736497, 73736501-73736510, 73736525-73736541, 73736875, 73736930, 73737063-73737075, 73738429-73738435, 73738450-73738523, 73738551-73738553, 73738557, 73738668, 73738673-73738674, 73738706-73738708, 73738711, 73738725, 73738736-73738741, 73738767-73738783, 73738812-73738832, 73739794-73739830, 73744922-73744934, 73744963-73744994, 73745006-73745015, 73745036, 73745055-73745061, 73745106-73745109, 73745120, 73746208, 73746235-73746268, 73746290-73746339, 73746786, 73746791, 73746891-73746941, 73747093-73747163, 73748270, 73748350-73748360, 73748411-73748413, 73748437, 73748527-73748528, 73748545, 73748551, 73748596-73748625, 73748636-73748642, 73748646, 73748649-73748651, 73749846-73749878, 73749898-73750003, 73750012-73750042, 73750051-73750055, 73750696-73750745, 73750786-73750787, 73750859, 73751782-73751815, 73751869-73751872, 73751878-73751931, 73752510-73752534, 73752565-73752571, 73752593-73752605, 73752633, 73752636-73752637, 73752640-73752648, 73752660-73752661, 73752785-73752875, 73752905-73752940, 73753024-73753034, 73753041-73753161, 73753281-73753306, 73753326-73753370, 73753379-73753391, 73753497-73753527, 73753542, 73753552-73753573, 73753622-73753627
348GALK1170.58015267175573495117973754137-73754176, 73754184-73754208, 73754292-73754304, 73754316-73754394, 73754405-73754410, 73754416-73754453, 73754530-73754597, 73754605-73754653, 73754663-73754680, 73759131-73759132, 73759165-73759180, 73759212-73759229, 73761053-73761057, 73761088-73761109, 73761116-73761149, 73761156-73761217
349UNC13D170.540482737549651504327373824046-73824086, 73824098-73824104, 73824134, 73824139, 73824146, 73824885-73824891, 73824921, 73824932-73824934, 73824946-73824947, 73824955-73824996, 73825002-73825018, 73825038, 73825044-73825054, 73826125-73826148, 73826177-73826181, 73826443-73826474, 73826480-73826520, 73826532-73826550, 73826561-73826563, 73826659-73826675, 73826681-73826725, 73826742, 73827180-73827204, 73827245-73827250, 73827324-73827373, 73827379-73827392, 73827424-73827429, 73829047, 73830157-73830199, 73830442-73830468, 73830478-73830479, 73830484, 73830496-73830497, 73830506-73830549, 73830598-73830600, 73830604-73830612, 73830729-73830775, 73831032-73831038, 73831076, 73831095-73831096, 73831099-73831100, 73831103-73831104, 73831506-73831552, 73831573, 73831605-73831610, 73831728-73831779, 73831851-73831858, 73831936-73831968, 73832107-73832171, 73832178-73832181, 73832281-73832290, 73832296-73832326, 73832420-73832450, 73832455, 73832462, 73832465, 73832498-73832510, 73832664-73832701, 73832736, 73832738-73832777, 73832882-73832890, 73832935-73832957, 73832974, 73832980-73832981, 73835924-73835941, 73835971, 73835997, 73836010-73836011, 73836019, 73836105-73836107, 73836121-73836125, 73836132-73836137, 73836167-73836173, 73836334, 73836363, 73836380-73836410, 73836862-73836885, 73838518-73838585, 73838609-73838694, 73838938-73838961, 73838984-73839004, 73839097, 73839106-73839122, 73839125, 73839132, 73839135-73839154, 73839253-73839292, 73839331-73839347, 73839565-73839600, 73840327, 73840333-73840344, 73840353-73840368, 73840392, 73840405-73840411
350SEPT9170.63429869392391644176175277634-75277635, 75303231-75303234, 75478245-75478274, 75478280-75478311, 75478338-75478370, 75478381-75478402, 75478415, 75483558-75483634, 75484325-75484331, 75484373-75484403, 75484809-75484824, 75484832-75484864, 75484906-75484946, 75486824-75486882, 75486888-75486908, 75486922-75486935, 75488703-75488727, 75488741, 75488757-75488789, 75489063-75489069, 75489115-75489125, 75493397-75493411, 75493438-75493448, 75494607-75494724
351GAA170.8223154949283508285978078473-78078476, 78078553-78078596, 78078605-78078615, 78078650-78078656, 78078695-78078697, 78078709-78078712, 78078722-78078723, 78078768-78078801, 78078875-78078881, 78078892-78078893, 78078900, 78078906-78078907, 78079593-78079634, 78079662, 78081510-78081513, 78081517, 78081645-78081679, 78082110, 78082122-78082134, 78082168-78082198, 78082288-78082302, 78082339-78082344, 78082362-78082381, 78082496-78082507, 78082590, 78082598-78082604, 78083753-78083780, 78083803-78083816, 78084544-78084591, 78084765-78084766, 78084769, 78085878-78085887, 78086379-78086384, 78086435-78086458, 78086681-78086689, 78086692, 78090846-78090863, 78091405-78091412, 78091447-78091466, 78092474-78092478, 78092526-78092529
352SGSH170.9463220675944381150978184345-78184376, 78184697-78184703, 78185979-78185985, 78186032-78186041, 78188507-78188508, 78190878-78190881, 78194050, 78194078-78194095
353ACTG1170.51241134751773550112879477716-79477717, 79477753-79477784, 79477846, 79477849-79477859, 79477955-79477997, 79478003-79478050, 79478068-79478084, 79478214-79478262, 79478268-79478389, 79478397-79478418, 79478494-79478575, 79478617-79478634, 79478934-79478954, 79478972-79479011, 79479079-79479080, 79479166-79479168, 79479258-79479266, 79479278, 79479283, 79479289, 79479303, 79479311-79479314, 79479318-79479319, 79479338-79479352, 79479367-79479368, 79479374
354FSCN2170.0121703853955371461147979495558-79495915, 79495921-79496299, 79496306-79496383, 79502078-79502234, 79503172-79503237, 79503242-79503245, 79503249-79503293, 79503648-79503815, 79503901-79504106
355NDUFV2180.9986666666666717509124872
356AFG3L2180.9862155388471233239412376986, 12377001-12377004, 12377029, 12377033-12377055, 12377060, 12377079-12377081
357MC2R180.99776286353468289413884638, 13885419
358NPC1180.999739379723741383721166299
359LAMA3180.98810237952411191000221269648-21269728, 21269746-21269762, 21269771, 21269774, 21269777, 21269787-21269803, 21269819
360DSC3180.999628390932741269128622591
361LOXHD1180.9977396021699815663644057581-44057582, 44104530-44104542
362MYO5B180.999459167117363554747429028-47429030
363SMAD4180.99578059071737165948593465-48593471
364RAX180.9884726224783912104156936246-56936249, 56940282-56940289
365CCBE1180.9787059787059826122157134106-57134123, 57147419, 57364517-57364523
366TNFRSF11A180.9719070772555452185159992586-59992637
367CTDP1180.87352737352737365288677439948-77440212, 77440219-77440228, 77440231-77440239, 77440243-77440249, 77440252, 77440258-77440261, 77455988-77456020, 77456039, 77457976-77457977, 77475005-77475007, 77475015, 77496483-77496487, 77513740-77513744, 77513747-77513765
368ELANE190.024875621890547784804852329-852395, 852876-853032, 853262-853403, 855564-855742, 855757-855760, 855767-855794, 855958-856164
369KISS1R190.411027568922317051197917503-917537, 917546-917552, 917559-917644, 917652-917662, 917665-917670, 917687-917729, 917736-917746, 918544-918562, 918585-918587, 918590, 918599-918668, 919495, 919508-919510, 919543, 919592-919625, 919893-919971, 919980-920007, 920032-920038, 920053-920106, 920290-920300, 920306-920357, 920372-920409, 920414-920415, 920441, 920447, 920464-920479, 920482, 920536-920537, 920540, 920574-920604, 920638-920639, 920642, 920653, 920681, 920701-920723, 920727-920748
370STK11190.32104454685188413021206953, 1207031-1207041, 1218416-1218417, 1218470, 1218476-1218483, 1219323-1219359, 1219385-1219412, 1220372-1220504, 1220580-1220587, 1220598-1220669, 1220676-1220687, 1220702-1220716, 1221212-1221273, 1221280-1221339, 1221948-1222005, 1222984-1223039, 1223046-1223171, 1226453-1226646
371NDUFS7190.518691588785053096421383926-1383941, 1387816-1387846, 1388542-1388544, 1388548-1388554, 1388558-1388580, 1388590, 1388832-1388853, 1388896-1388899, 1388903-1388904, 1390964-1390991, 1391122-1391131, 1391140, 1391144-1391164, 1393241-1393285, 1393306-1393322, 1395392, 1395396-1395452, 1395468-1395487
372GAMT190.493827160493834108101398708-1398715, 1398720-1398725, 1398775-1398784, 1398787-1398809, 1398834-1398900, 1398927-1398980, 1398996-1398997, 1399003-1399017, 1399127-1399137, 1399171-1399172, 1399556-1399557, 1399797-1399818, 1399833, 1399848-1399865, 1399892-1399907, 1399919-1399921, 1399932-1399937, 1401295-1401346, 1401358-1401359, 1401373, 1401382-1401460, 1401466-1401475
373RAX2190.477477477477482905553770619-3770625, 3770628-3770635, 3770669, 3770672-3770673, 3770678-3770681, 3770686-3770695, 3770748-3770781, 3770861-3770896, 3770904, 3770922-3770925, 3770930, 3770948-3770957, 3771525-3771567, 3771576-3771635, 3771672-3771740
374MAP2K2190.5386533665835455512034090596-4090601, 4090621-4090706, 4094451-4094455, 4094468-4094496, 4095388-4095428, 4097284-4097339, 4099199-4099233, 4099246-4099252, 4099262-4099328, 4099339-4099349, 4099389-4099412, 4101036, 4101096, 4101103, 4101106-4101117, 4110585, 4117471-4117517, 4117549-4117581, 4123781-4123872
375NDUFA11190.9788732394366294265903625-5903627, 5903630-5903635
376TUBB4190.99700374531835413356502220-6502223
377C3190.9767628205128211649926707097-6707148, 6707215-6707226, 6709722-6709724, 6709740, 6709841-6709842, 6709845-6709848, 6710719-6710744, 6713511-6713517, 6714046-6714054
378INSR190.9144372137864535541497132169-7132180, 7132274-7132280, 7132316-7132328, 7141752-7141769, 7141782-7141791, 7142827-7142862, 7142901-7142905, 7142920, 7143000-7143004, 7143072-7143101, 7150508-7150543, 7152737-7152751, 7152772, 7152775-7152787, 7152812-7152827, 7152852-7152853, 7152880-7152893, 7152904, 7163046-7163066, 7163075-7163112, 7163152-7163170, 7172404, 7174612, 7174616, 7174625-7174628, 7184383-7184384, 7184495-7184497, 7293856-7293884, 7293898
379MCOLN1190.94951233505458817437587647-7587648, 7587663-7587667, 7591647-7591658, 7593562, 7593567-7593582, 7594021-7594028, 7595209-7595211, 7595367-7595370, 7598419-7598421, 7598509-7598536, 7598667-7598672
380PNPLA6190.8232931726907670439847600888-7600894, 7601124-7601131, 7604926-7604932, 7605094-7605097, 7605123-7605125, 7605129, 7605150, 7605164, 7606496, 7606540, 7606550-7606560, 7606908, 7606915-7606925, 7606935, 7607452, 7607468-7607476, 7607680, 7607786-7607808, 7607811, 7607918, 7607936-7607940, 7607943, 7614805, 7614808-7614903, 7614914, 7614926-7614998, 7615184-7615315, 7615403-7615507, 7615880-7615934, 7615939-7615941, 7615946-7615949, 7615955-7615993, 7616248-7616298, 7619477-7619478, 7619521-7619522, 7619833-7619866, 7622090-7622095
381STXBP2190.8653198653198724017827702038-7702070, 7704617-7704620, 7704659-7704678, 7706623-7706634, 7706981-7706987, 7707100-7707116, 7707193-7707198, 7707317-7707338, 7707410-7707411, 7707654-7707682, 7707924-7707934, 7708058, 7708098-7708101, 7708106-7708107, 7708111-7708112, 7711135-7711151, 7712252-7712279, 7712282-7712289, 7712358-7712365, 7712620-7712626
382ADAMTS10190.980978260869576333128650167, 8654139-8654152, 8654236-8654249, 8668669-8668676, 8670022-8670046, 8670130
383TYK2190.81004489337823677356410461510-10461515, 10463110-10463135, 10463602-10463643, 10463657-10463698, 10463705-10463725, 10464204-10464238, 10464247-10464262, 10464751-10464756, 10464865-10464884, 10464892, 10465276-10465279, 10467256-10467258, 10467358-10467363, 10468440-10468517, 10468554-10468563, 10468594, 10468717-10468741, 10468768, 10468778-10468795, 10469899, 10469966-10469978, 10473052-10473071, 10475302, 10475333-10475343, 10475532, 10475543-10475546, 10475564, 10475648, 10475659-10475662, 10476217-10476230, 10476233, 10476304-10476306, 10476358-10476406, 10476476-10476479, 10488890-10488908, 10488914-10489082
384DNM2190.9950248756218913261310870421-10870428, 10923024-10923028
385LDLR190.9876113046844832258311200274-11200276, 11215979-11215980, 11216081, 11218182-11218185, 11221429-11221431, 11221436-11221443, 11224260-11224261, 11224303-11224307, 11233995-11233996, 11233999, 11240289
386PRKCSH190.9508506616257178158711546947-11546950, 11547282-11547283, 11557950-11557956, 11558341-11558346, 11558383-11558387, 11558508-11558554, 11558599, 11560132-11560137
387MAN2B1190.92852437417655217303612758100, 12758326-12758365, 12759021, 12759032, 12759061, 12759072, 12759099-12759100, 12759111-12759117, 12759200, 12759203, 12763271-12763274, 12766590, 12766649-12766652, 12767763-12767773, 12767844-12767850, 12767861-12767864, 12768260-12768327, 12768332-12768333, 12768347-12768369, 12768948, 12769048, 12769056-12769058, 12769066, 12769085-12769095, 12769140-12769146, 12769260, 12769323, 12777434, 12777450, 12777453-12777457, 12777465-12777466, 12777502, 12777510
388GCDH190.996962794229314131713007804-13007807
389CACNA1A190.92102114080574594752113318219, 13318241-13318267, 13318275-13318296, 13318328-13318329, 13318374-13318381, 13318392-13318393, 13318396, 13318405-13318460, 13318471-13318473, 13318477-13318491, 13318498-13318510, 13318516, 13318529-13318562, 13318570-13318729, 13318774-13318792, 13318806-13318812, 13318824-13318830, 13318847-13318854, 13318859, 13319577-13319580, 13319592-13319649, 13319692-13319694, 13320187-13320195, 13320270-13320275, 13325093-13325101, 13325394-13325399, 13409489-13409492, 13409495-13409503, 13409573-13409580, 13409602, 13409631-13409648, 13409882-13409895, 13616761, 13616907-13616909, 13616915-13616918, 13616950, 13616960, 13616980-13617027
390NOTCH3190.97688774045363161696615302235-15302261, 15302323-15302329, 15302451-15302468, 15302843-15302844, 15302898-15302902, 15302917-15302920, 15302930-15302936, 15302987-15302988, 15302995-15302997, 15303064-15303075, 15303194-15303200, 15311599-15311603, 15311619, 15311625, 15311629-15311631, 15311643-15311647, 15311658-15311701, 15311704, 15311708-15311709, 15311712-15311716
391JAK3190.90844444444444309337517940917-17941027, 17941317-17941324, 17941415-17941417, 17949094-17949106, 17949110-17949112, 17950368-17950370, 17953142-17953150, 17953174-17953178, 17953181-17953184, 17953192, 17953196-17953212, 17953237-17953251, 17953254, 17953282-17953287, 17953311, 17953314-17953324, 17953356-17953369, 17953372, 17953375, 17953395-17953407, 17953926-17953935, 17953946, 17953969-17953981, 17954266-17954268, 17954611, 17955100-17955121, 17955175-17955193
392SLC5A5190.87629399585921239193217983246-17983257, 17983331-17983351, 17983357-17983385, 17984947-17985012, 17985303-17985326, 17985485, 17985488, 17985528-17985540, 17986761-17986794, 17986847-17986875, 17986913, 17991696, 17994502-17994505, 17994515, 17994529-17994530
393IL12RB1190.957767722473684198918179317-18179334, 18186618, 18186626-18186629, 18187107-18187108, 18188347-18188348, 18188366, 18191695, 18191765-18191779, 18191788, 18197570-18197593, 18197596, 18197620-18197633
394COMP190.84608619173263350227418893908-18893919, 18893957-18893964, 18895086, 18896498-18896504, 18896528-18896560, 18896566-18896568, 18896652, 18896775, 18898311-18898315, 18898367, 18898371-18898375, 18899081-18899087, 18899115-18899128, 18899219-18899260, 18899286-18899303, 18899408, 18899413, 18899416, 18899443, 18899453-18899454, 18899470-18899472, 18899707, 18899978-18899987, 18899994, 18900001-18900002, 18900035-18900043, 18900056, 18900070-18900079, 18900755-18900777, 18900831-18900837, 18900878-18900879, 18900882, 18901406-18901408, 18901663-18901721, 18901738-18901744, 18902000-18902030, 18902063-18902078
395CEBPA190.54596100278552489107733792340-33792344, 33792416-33792419, 33792510-33792536, 33792554-33792568, 33792596-33792614, 33792720-33792728, 33792751-33792802, 33792808-33792927, 33792944-33792991, 33793010-33793017, 33793019-33793030, 33793033, 33793041, 33793096-33793103, 33793118-33793125, 33793128-33793180, 33793189-33793199, 33793209-33793255, 33793280-33793320
396SCN1B190.950433705080554080735521725-35521764
397HAMP190.9921568627451225535773483-35773484
398MAG190.91387559808612162188135786623-35786625, 35790457-35790458, 35790555-35790563, 35790628-35790642, 35790694, 35790730-35790746, 35791050-35791073, 35791091-35791112, 35791123-35791161, 35791201-35791220, 35791270-35791279
399TYROBP190.81415929203546333936398146-36398152, 36398361-36398388, 36398454-36398479, 36399100-36399101
400SDHAF1190.830459770114945934836486219-36486264, 36486278-36486283, 36486401-36486407
401WDR62190.9947506561679824457236579961-36579966, 36590515-36590519, 36595703-36595707, 36595741-36595748
402RYR1190.955877488919766671511738931385-38931401, 38931482-38931483, 38987063-38987066, 38987107-38987128, 38987506-38987544, 38990344-38990349, 38990628-38990630, 38990636-38990639, 38993166-38993180, 39055607-39055664, 39055678-39055697, 39055705-39055795, 39055818-39056035, 39056050-39056081, 39056092-39056095, 39056114-39056125, 39056177, 39056185-39056187, 39056196-39056237, 39056279-39056293, 39075617-39075649, 39075681-39075696, 39075703-39075705, 39075719-39075725
403ACTN4190.7671783625731637273639138435-39138436, 39138471, 39138483, 39138547, 39205109-39205130, 39205189, 39207726-39207731, 39207815-39207817, 39208576-39208593, 39208661, 39208680, 39208686-39208690, 39208693-39208714, 39212268-39212274, 39212327-39212328, 39214327-39214355, 39214577-39214608, 39214620-39214652, 39214664-39214700, 39214841-39214908, 39214944-39214966, 39215114-39215119, 39215128-39215143, 39215154-39215172, 39216377-39216381, 39216393, 39216413, 39216444-39216452, 39216460-39216499, 39216526-39216532, 39216539-39216543, 39217625-39217632, 39217679, 39218586-39218591, 39218626-39218666, 39219636-39219651, 39219718-39219735, 39219744-39219767, 39219914-39219915, 39219926-39219938, 39219970-39220016, 39220022-39220058
404DLL3190.9687668282175658185739993479-39993484, 39993556-39993581, 39993591, 39993634-39993640, 39994711, 39994810-39994826
405PRX190.93616051071591280438640900865, 40901254, 40901269, 40901302-40901305, 40902030-40902039, 40902042-40902046, 40902295-40902300, 40902350, 40902618-40902664, 40902684-40902724, 40903087-40903089, 40903418-40903446, 40903644-40903653, 40909642-40909711, 40909719-40909769
406TGFB1190.73486786018755311117341838109, 41838113, 41838183-41838186, 41847794-41847800, 41847808, 41847812, 41848085-41848110, 41850666-41850718, 41850765-41850768, 41854226-41854249, 41854265-41854286, 41854324-41854359, 41858697-41858726, 41858732-41858734, 41858746-41858771, 41858857-41858864, 41858876-41858879, 41858890-41858949
407BCKDHA190.84005979073244214133841903733-41903753, 41903795-41903838, 41916549, 41919967-41919987, 41920061-41920062, 41928080-41928091, 41928534-41928535, 41928652, 41928908-41928914, 41928973-41929009, 41929065, 41930350, 41930404-41930414, 41930419, 41930433-41930474, 41930499-41930508
408RPS19190.958904109589041843842364881, 42364892, 42364901-42364902, 42365247-42365260
409ATP1A3190.998640565524745367842498224-42498228
410ETHE1190.8575163398692810976544011030-44011036, 44012096-44012125, 44012181-44012197, 44012980, 44012986, 44012990, 44015641-44015670, 44015673-44015677, 44015688, 44030753, 44031313, 44031316-44031329
411BCAM190.9745627980922148188745312407-45312453, 45324055
412APOE190.99475890985325595445411993-45411994, 45412142-45412144
413BLOC1S3190.6009852216748824360945682582-45682587, 45682598, 45682607-45682610, 45682644, 45682695, 45682744-45682805, 45682841-45682860, 45682866-45682891, 45682918-45682962, 45683015-45683082, 45683097-45683105
414ERCC2190.93123083661848157228345856391-45856392, 45867002-45867013, 45867036-45867041, 45867051-45867054, 45867123-45867138, 45867164-45867169, 45867286, 45867304, 45867313-45867348, 45867358-45867377, 45867517-45867521, 45867694-45867722, 45868210-45868212, 45868340, 45868414-45868415, 45872350-45872351, 45873482-45873490, 45873794-45873795
415SIX5190.7536036036036547222046268789-46268790, 46268861-46268894, 46268975, 46268980-46268984, 46269098-46269103, 46269155-46269196, 46269205-46269238, 46269245-46269253, 46269302-46269316, 46269657-46269658, 46269701-46269704, 46269711, 46269888-46269905, 46269931, 46269934, 46269999-46270014, 46270107-46270113, 46270135-46270137, 46270140-46270155, 46270181-46270183, 46270187-46270200, 46270302-46270334, 46270364-46270379, 46271326-46271333, 46271339-46271381, 46271521-46271548, 46271563-46271578, 46271595-46271616, 46271680-46271690, 46271697-46271705, 46271721, 46271723-46271726, 46271764-46271768, 46271822-46271827, 46271843-46271860, 46271877-46271915, 46271935-46271960, 46272047-46272073, 46272087
416DMPK190.9518518518518591189046274229-46274245, 46274260, 46280652, 46280774-46280778, 46280787-46280790, 46281442, 46281445-46281453, 46281853-46281864, 46282772-46282780, 46285525-46285542, 46285552-46285561, 46285590-46285593
417FKRP190.53293010752688695148847258764-47258781, 47259002-47259035, 47259043-47259096, 47259115-47259160, 47259176-47259203, 47259230-47259279, 47259286-47259315, 47259348-47259564, 47259595-47259597, 47259603-47259607, 47259614-47259723, 47259732-47259768, 47259880-47259881, 47259942-47259945, 47259984-47259993, 47260064-47260089, 47260108-47260110, 47260167-47260184
418DBP190.5633946830265842797849134125-49134127, 49134130-49134132, 49134182-49134203, 49134206, 49134243-49134250, 49138837-49138900, 49138903-49138953, 49138974-49139188, 49139201-49139214, 49139228-49139247, 49140180-49140191, 49140197-49140210
419BCAT2190.9397794741306271117949303053-49303060, 49303063, 49303076-49303077, 49303087-49303094, 49303238-49303257, 49303269, 49303286-49303287, 49303302-49303306, 49303311, 49303464, 49303470, 49303489-49303492, 49303496, 49303501-49303516
420FTL190.98295454545455952849469114-49469121, 49469601
421GYS1190.92186088527552173221449488759-49488764, 49494597-49494630, 49494656-49494669, 49494698-49494740, 49496252-49496282, 49496315-49496359
422MED25190.9616755793226486224450321617-50321628, 50321845-50321873, 50335400-50335414, 50338430-50338432, 50338985, 50339158-50339164, 50339491, 50339546-50339563
423PNKP190.9936143039591310156650365029-50365038
424MYH14190.94861724758632314611150713623, 50713677-50713688, 50713713, 50713716-50713718, 50713721-50713722, 50713773, 50713822, 50713888, 50713893, 50713900-50713901, 50713947-50713981, 50714024-50714027, 50720874-50720875, 50726553-50726566, 50726570, 50728934, 50747499, 50747510-50747517, 50750286-50750292, 50752907-50752908, 50752959, 50752987-50753008, 50753069-50753071, 50753772-50753859, 50753921-50753931, 50758477, 50758549-50758560, 50760600-50760611, 50762424-50762430, 50762436-50762441, 50764803-50764805, 50764808-50764821, 50764891, 50766585-50766587, 50766614-50766616, 50766650, 50766661-50766663, 50770134-50770138, 50770213-50770223, 50795561-50795567
425KCNC3190.62840809146878845227450823503-50823547, 50823570-50823605, 50826238-50826244, 50826281, 50826284-50826293, 50826296-50826304, 50826329-50826436, 50826562-50826565, 50826640-50826657, 50826935-50826941, 50827014-50827037, 50831472-50831486, 50831505-50831525, 50831536-50831545, 50831548, 50831587-50831593, 50831638-50831640, 50831675-50831747, 50831764-50831828, 50831842-50831851, 50831899-50831903, 50831929-50831943, 50831954, 50831958-50831960, 50831963, 50831966-50832041, 50832056-50832070, 50832085-50832339
426NLRP12190.9877589453860639318654304630-54304634, 54307303-54307306, 54312853-54312855, 54312865-54312875, 54313172, 54313555, 54313661-54313663, 54313666-54313674, 54313747-54313748
427PRKCG190.87679083094556258209454385864-54385865, 54385878, 54385906-54385916, 54392919-54392935, 54392955-54392961, 54392994-54392996, 54392999-54393003, 54393140, 54393209-54393210, 54393226, 54401322, 54401738-54401773, 54401785-54401811, 54401854, 54401859-54401882, 54409571-54409576, 54409628-54409641, 54409661, 54409693-54409703, 54409961-54409983, 54410009-54410044, 54410065-54410092
428PRPF31190.311333333333331033150054621682-54621683, 54621699-54621705, 54621718, 54621737-54621760, 54621953-54621984, 54622008-54622013, 54625249-54625258, 54625285-54625290, 54625314-54625322, 54625897-54625904, 54625922-54625957, 54625968-54625973, 54626881-54626911, 54626923-54626939, 54627130-54627190, 54627219, 54627222-54627223, 54627261-54627297, 54627891, 54627893-54627973, 54628009-54628019, 54628025-54628035, 54629915-54629992, 54631448-54631575, 54631680-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634863
429TSEN34190.950696677384784693354695262-54695268, 54695314, 54695338-54695375
430NLRP7190.9910083493898528311455445067-55445074, 55450989-55450993, 55451232, 55451236-55451249
431TNNT1190.907477820025357378955645285, 55652258-55652285, 55652322, 55652326-55652328, 55652599-55652637, 55658065
432TNNI3190.99014778325123660955666193-55666198
433TPO20.9414703783012116428021481083-1481089, 1520655-1520665, 1520676, 1520679-1520680, 1520684, 1520691-1520738, 1544371-1544420, 1544427-1544447, 1544485-1544486, 1546226-1546246
434RPS720.9846153846153895853623227-3623234, 3623466
435KLF1120.9727095516569242153910183844-10183885
436LPIN120.9936401047512217267311911789-11911805
437MYCN20.9749103942652335139516082307-16082310, 16082382-16082398, 16082551-16082555, 16082697-16082703, 16082871-16082872
438MATN320.99589322381936146120212336-20212337, 20212341, 20212346-20212348
439APOB20.99780893952673301369221266756, 21266766-21266794
440POMC20.973880597014932180425384121-25384133, 25384428-25384435
441HADHA20.9882198952879627229226414415-26414441
442HADHB20.997192982456144142526508375-26508378
443OTOF20.713713713713711716599426684745, 26684952-26684959, 26695402-26695414, 26695498, 26695502, 26695516-26695517, 26696046-26696063, 26696067, 26696084-26696129, 26696274-26696305, 26696371-26696372, 26696394-26696420, 26696859-26696957, 26696968-26696978, 26697381-26697492, 26697505-26697513, 26697533-26697542, 26698246-26698282, 26698341-26698349, 26698793-26698817, 26698847-26698885, 26698996-26699034, 26699050-26699120, 26699137-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700322, 26700342-26700374, 26700517-26700617, 26702165-26702200, 26702244, 26702249-26702252, 26702341-26702394, 26702443-26702481, 26702496-26702521, 26703071-26703077, 26703093-26703112, 26703125-26703127, 26703138-26703179, 26703654-26703778, 26703793-26703830, 26703862-26703877, 26705274-26705304, 26705313-26705334, 26705346-26705375, 26705411-26705438, 26706335-26706344, 26706391-26706398, 26706455, 26707461-26707465, 26707485-26707501, 26712079-26712083, 26712100-26712116, 26712141, 26712144, 26712149-26712153, 26712553, 26712557-26712560, 26712599-26712608, 26739298-26739300, 26741961
444C2orf7120.9932764416860626386729293594-29293606, 29293648-29293660
445ALK20.999794365617931486330143499
446SPAST20.91896272285251150185132288995, 32288998-32289025, 32289030, 32289035-32289038, 32289076-32289079, 32289084-32289094, 32289124-32289145, 32289171-32289177, 32289213-32289238, 32289270-32289315
447CYP1B120.93566176470588105163238301977-38302034, 38302045-38302058, 38302203-38302209, 38302219, 38302224, 38302238-38302240, 38302260, 38302301-38302307, 38302408-38302415, 38302424, 38302430, 38302441, 38302475-38302476
448SOS120.999750124937531400239285890
449ABCG520.9299591002045137195644053660, 44055137-44055153, 44055158, 44058930-44058964, 44058990-44059006, 44059095-44059118, 44059153-44059176, 44059194-44059198, 44059203-44059215
450ABCG820.9634025717111874202244066196, 44078849, 44099185-44099209, 44100933-44100939, 44102315-44102327, 44102369-44102395
451LRPPRC20.9923536439665532418544222951-44222974, 44222986-44222987, 44223060, 44223063, 44223068-44223071
452SIX320.988988988988991199945169429, 45169641-45169650
453EPCAM20.936507936507946094547596645-47596646, 47596670-47596709, 47601106, 47606177-47606193
454MSH220.9860962566844939280547630335-47630352, 47630378-47630388, 47630465-47630466, 47635540, 47639553, 47698189-47698194
455MSH620.96424197893706146408348010439-48010483, 48010508-48010578, 48010584-48010609, 48010629-48010632
456LHCGR20.999523809523811210048982785
457ATP6V1B120.9909208819714714154271163085, 71163091-71163103
458MCEE20.975517890772131353171337161-71337165, 71337212, 71351360-71351366
459DYSF20.9943396226415136636071801440, 71825787-71825807, 71829910-71829918, 71847698-71847702
460SPR20.888040712468198878673114601-73114612, 73114625-73114627, 73114630-73114645, 73114736, 73114800-73114855
461ALMS120.99360204734485801250473612997-73613006, 73613017-73613036, 73613065, 73613082-73613083, 73613094, 73613115-73613159, 73613207
462MOGS20.93436754176611165251474688412-74688427, 74688448, 74688684, 74688782-74688790, 74688818, 74688909, 74688995-74689027, 74689073, 74689079, 74689082, 74689277, 74689827, 74689836, 74689848, 74689853, 74689862, 74689893, 74691843, 74692144, 74692156-74692162, 74692236-74692246, 74692259-74692262, 74692276-74692309, 74692334-74692364, 74692371-74692374
463HTRA220.999273783587511137774757254
464SUCLG120.9682997118155633104184686310-84686342
465GGCX20.996925779534487227785788525-85788531
466REEP120.98514851485149960686564625-86564633
467EIF2AK320.9919427036705527335188926730-88926735, 88926768-88926788
468TMEM12720.949790794979083671796930897-96930909, 96931028-96931033, 96931081-96931093, 96931103-96931106
469ZAP7020.9725806451612951186098340545, 98340747-98340761, 98340816-98340829, 98349424-98349431, 98349660-98349664, 98349672-98349675, 98351128-98351131
470RANBP220.912661498708018459675109336080, 109345588-109345601, 109347835-109347859, 109351988-109351996, 109352142, 109352635, 109357067-109357116, 109365376-109365383, 109365424-109365426, 109367720-109367775, 109368074-109368111, 109368334-109368358, 109368433, 109368437, 109368449, 109369454-109369483, 109370332-109370375, 109370395-109370412, 109371385-109371397, 109371479-109371512, 109371632-109371633, 109371656-109371662, 109374869-109374872, 109374952, 109378557-109378568, 109378650-109378651, 109382787-109382807, 109382943, 109383051-109383058, 109383075-109383113, 109383247-109383289, 109383318, 109383354-109383374, 109383635-109383682, 109383744-109383806, 109383869-109383915, 109384004-109384029, 109384167, 109384446-109384480, 109384490-109384529, 109384585-109384634
471MERTK20.9983333333333353000112656316-112656318, 112656321, 112656334
472GLI220.801722327242189444761121555019-121555028, 121685022-121685028, 121708840-121708844, 121708898, 121708907-121708909, 121708933-121708998, 121709007-121709011, 121709019, 121712960-121712963, 121712970-121712975, 121726349, 121728022, 121728105-121728119, 121728146-121728148, 121728151-121728177, 121729539-121729557, 121729601-121729639, 121742303, 121745832-121745833, 121745838-121745865, 121745879-121745927, 121746000, 121746014-121746017, 121746021, 121746033, 121746072-121746091, 121746112, 121746123, 121746128, 121746137-121746354, 121746373, 121746381-121746408, 121746441, 121746490-121746532, 121746544-121746572, 121746591-121746592, 121746613-121746649, 121746689-121746732, 121746763, 121746768-121746770, 121746792-121746834, 121746865, 121747014, 121747063, 121747117, 121747176, 121747342-121747409, 121747480-121747489, 121747526-121747555, 121747566, 121747653-121747656, 121747659-121747703, 121747921, 121748033-121748039
473BIN120.95847362514029741782127806125-127806166, 127808752-127808756, 127808814-127808817, 127811010-127811011, 127815115-127815134, 127816632
474PROC20.905483405483411311386128178884-128178899, 128180493-128180495, 128180622-128180684, 128180699-128180747
475CFC120.76636904761905157672131279071, 131279395, 131279637-131279649, 131279681-131279682, 131280363-131280405, 131280428-131280474, 131280748-131280749, 131280766, 131280796-131280803, 131280808, 131285300-131285320, 131285335-131285336, 131285351-131285353, 131285376-131285377, 131285416-131285423, 131285436, 131285438
476LCT20.99827109266943105784136558240-136558245, 136567058-136567060, 136567074
477NEB20.998297787123263419974152348785-152348791, 152390762-152390767, 152402512, 152402920-152402926, 152404036-152404047, 152432684
478CACNB420.9942418426103691563152698519, 152698526-152698529, 152732981-152732982, 152733040, 152737408
479SCN2A20.9998338318378216018166201179
480SLC25A1220.9960726558664782037172750717-172750724
481ITGA620.9996947496947513276173292544
482HOXD1320.93604651162791661032176957619-176957632, 176957663, 176957669, 176957673, 176957711-176957713, 176957725-176957727, 176957732, 176957742, 176957745, 176957749, 176957832, 176957942-176957973, 176958266-176958271
483AGPS20.99443601416287111977178257648, 178257714, 178333184-178333192
484PRKRA20.9734607218683725942179315709-179315733
485TTN20.999930173170547100248179392343, 179392348, 179401271, 179417732, 179419714, 179443559, 179459133
486CERKL20.9993746091307111599182468697
487PMS120.9985709181850742799190728739-190728742
488BMPR220.9987167147898643117203242259, 203242271, 203379676-203379677
489NDUFS120.96886446886447682184206991326, 206992602, 206992627-206992647, 207009730-207009750, 207017217-207017220, 207017225-207017228, 207018352-207018367
490ABCA1220.9991011813045777788215798904, 215809751-215809755, 215812200
491PNKD20.9991364421416211158219204830
492WNT10A20.833333333333332091254219745727, 219745731, 219745745-219745774, 219745820-219745830, 219757497-219757507, 219757520-219757562, 219757572-219757578, 219757650-219757693, 219757754-219757758, 219757778-219757799, 219757846-219757869, 219757894-219757897, 219757980-219757984, 219757989
493DES20.95046001415428701413220283240-220283243, 220283257-220283268, 220283272-220283273, 220283277, 220283645-220283677, 220283697-220283714
494OBSL120.865928659286597635691220416251-220416262, 220416280-220416319, 220416420-220416435, 220416834-220416855, 220416886-220416889, 220416897-220416904, 220417286-220417330, 220417352-220417419, 220417603-220417632, 220417657-220417677, 220417692-220417725, 220418336-220418343, 220419218-220419222, 220419432-220419436, 220421354-220421362, 220424131, 220431694-220431698, 220432048-220432049, 220432903, 220434945-220434949, 220434959-220434963, 220435130-220435136, 220435284-220435290, 220435333-220435343, 220435372-220435409, 220435419-220435431, 220435435-220435437, 220435543-220435572, 220435585-220435612, 220435623-220435626, 220435634-220435796, 220435836-220435841, 220435848-220435954
495PAX320.9993412384716711518223163269
496COL4A320.9996010373030125013228029474-228029475
497CHRND20.893178893178891661554233390926-233390956, 233391327-233391334, 233394654-233394662, 233394689-233394693, 233396257-233396313, 233396331-233396349, 233398646-233398647, 233398682-233398692, 233398772-233398795
498CHRNG20.99292149292149111554233404839-233404841, 233409142, 233409245-233409250, 233409534
499AGXT20.95165394402036571179241808283-241808285, 241808356-241808363, 241808405-241808434, 241808685, 241810766-241810777, 241816977-241816979
500D2HGDH20.823116219667942771566242674673, 242674737, 242674796-242674810, 242689569-242689593, 242689624, 242689648-242689693, 242690668-242690671, 242690749, 242690781, 242695323-242695332, 242695380, 242707163-242707189, 242707195-242707233, 242707241-242707266, 242707289-242707302, 242707313-242707342, 242707350-242707384
501C20orf54200.97021276595745421410741800-741806, 741842, 741847-741849, 742455-742457, 744458-744459, 744532-744534, 745978-745994, 746194-746196, 746344-746345, 746350
502AVP200.717171717171721404953063289-3063300, 3063364-3063418, 3063431-3063443, 3063632-3063673, 3063771-3063788
503PANK2200.9246935201401112917133869779-3869799, 3869859, 3869954-3869972, 3870014, 3870017, 3870021, 3870024-3870033, 3870093-3870100, 3870105-3870112, 3870122-3870124, 3870243-3870298
504PRNP200.9908136482939677624679867-4679873
505JAG1200.9505058791359181365710653352-10653393, 10653430-10653435, 10653460, 10653469, 10653480-10653526, 10653560-10653615, 10654128-10654129, 10654134-10654151, 10654159-10654160, 10654163-10654165, 10654176-10654178
506C20orf7200.994219653179196103813765741-13765746
507THBD200.9832175925925929172823029338-23029339, 23029393, 23029559, 23029589-23029590, 23029592, 23029596, 23029600, 23029664-23029668, 23029893-23029902, 23030043-23030047
508SNTA1200.86495388669302205151832000387-32000430, 32000466, 32031126-32031188, 32031218-32031238, 32031277-32031280, 32031320-32031337, 32031345, 32031356-32031369, 32031384-32031414, 32031419-32031426
509SAMHD1200.996278575225947188135545392-35545398
510HNF4A200.9333333333333395142543052670-43052674, 43052752-43052793, 43052821-43052835, 43052849, 43052855-43052886
511ADA200.9844322344322317109243252861-43252864, 43280216-43280222, 43280226-43280231
512CTSA200.9412157648630688149744519993-44519999, 44520208-44520219, 44520234-44520267, 44520334-44520338, 44523345-44523346, 44523633-44523636, 44523756-44523770, 44526393-44526401
513SLC2A10200.995694956949577162645354890-45354896
514GNAS200.7696476964769617073857415164-57415195, 57415237-57415241, 57415319-57415339, 57415369, 57415520-57415553, 57415564-57415566, 57415695, 57415714, 57415778-57415845, 57415892-57415895
515GNAS200.92357096981374238311457428448-57428459, 57428947, 57429068-57429109, 57429125-57429155, 57429163, 57429343-57429349, 57429444-57429445, 57429452, 57429475-57429480, 57429491-57429495, 57429598, 57429615-57429616, 57429629-57429640, 57429653, 57429663, 57429676, 57429679, 57429689, 57429715-57429720, 57429735, 57429754-57429761, 57429764, 57429772-57429773, 57429778, 57429862-57429877, 57429927-57429947, 57429969-57429995, 57430052-57430057, 57430061-57430063, 57430101-57430103, 57430166, 57430259-57430270, 57430275, 57430278
516COL9A3200.53430656934307957205561448417-61448494, 61448919-61448987, 61449876-61449891, 61450574-61450610, 61450625-61450645, 61451282, 61451289-61451299, 61451326-61451330, 61452533-61452568, 61452859-61452862, 61453112-61453145, 61453156, 61453159-61453162, 61453463-61453494, 61453951-61453968, 61453977, 61453983, 61455800-61455853, 61456320-61456373, 61457178-61457180, 61457194-61457222, 61457556-61457562, 61457585-61457604, 61458123-61458140, 61458149-61458154, 61458593-61458646, 61459275-61459286, 61459311-61459313, 61459323-61459325, 61460116-61460118, 61460122-61460128, 61460135-61460139, 61460145-61460147, 61460150-61460154, 61460160, 61460164-61460166, 61460316-61460328, 61460833, 61460838-61460840, 61460980-61461033, 61461128-61461131, 61461155-61461171, 61461712-61461722, 61461732-61461765, 61461869-61461940, 61464373-61464381, 61467289-61467295, 61467562-61467567, 61467613-61467648, 61468507, 61468559-61468588
517CHRNA4200.0636942675159241764188461978090-61978215, 61981005-61981216, 61981231-61981493, 61981505-61981856, 61981865-61982003, 61982011, 61982026-61982044, 61982052-61982059, 61982071-61982072, 61982076-61982209, 61982217-61982270, 61982288-61982289, 61982292-61982327, 61982347-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
518KCNQ2200.270332187857961911261962037997-62038128, 62038142, 62038145-62038165, 62038176-62038203, 62038220-62038226, 62038234-62038383, 62038394-62038558, 62038566-62038616, 62038620-62038631, 62038637-62038642, 62038666, 62038669, 62038674-62038688, 62038695-62038728, 62039771, 62039779-62039841, 62044803-62044823, 62044830-62044875, 62044886, 62045441-62045454, 62046256-62046283, 62046307, 62046312-62046315, 62046324-62046376, 62046380-62046393, 62046403-62046433, 62046441-62046479, 62059733-62059739, 62059750-62059762, 62059766-62059788, 62065182-62065210, 62065227-62065231, 62065235, 62065242-62065244, 62069982-62070014, 62070025-62070052, 62070951-62070972, 62070986-62070991, 62071014-62071061, 62073759-62073883, 62076012-62076187, 62076591-62076717, 62078100-62078107, 62078139-62078141, 62078173-62078190, 62103521-62103816
519SOX18200.2025974025974921115562679519-62679566, 62679586-62679604, 62679621, 62679632-62679637, 62679663-62679690, 62679711-62679719, 62679745-62679746, 62679754, 62679760-62679762, 62679769, 62679778, 62679781-62679790, 62679807, 62679814, 62679823-62679858, 62679869, 62679875, 62679888-62679989, 62679998-62680041, 62680050-62680112, 62680131-62680315, 62680512-62680869
520IFNGR2210.9280078895463573101434775850-34775922
521RCAN1210.935441370223984975935987075-35987084, 35987186-35987204, 35987207-35987215, 35987230, 35987244-35987247, 35987256-35987259, 35987309-35987310
522RUNX1210.9902979902979914144336164452-36164454, 36164608-36164611, 36259303-36259309
523TMPRSS3210.90622710622711128136543795836-43795843, 43795872, 43795936-43795966, 43796650-43796651, 43796661-43796694, 43796760-43796767, 43796770, 43796773-43796774, 43796778-43796781, 43796786-43796788, 43803288-43803299, 43805518-43805538, 43805621
524CBS210.83635265700483271165644473990, 44474053, 44474091-44474093, 44476921, 44476985-44476997, 44478944, 44478965-44478998, 44479032, 44479044-44479051, 44479337-44479345, 44479354, 44479359-44479363, 44479391-44479397, 44480563-44480583, 44480595-44480604, 44480615-44480616, 44480629-44480656, 44482444-44482450, 44484019-44484031, 44485588-44485596, 44485750-44485751, 44485802-44485805, 44488632-44488638, 44488689-44488704, 44492134-44492164, 44492246-44492281
525CSTB210.919191919191922429745196085-45196101, 45196134, 45196137-45196142
526AIRE210.332722832722831093163845705890-45705948, 45705968-45706021, 45706440-45706465, 45706478-45706488, 45706492-45706509, 45706513-45706515, 45706861-45706883, 45706937-45706939, 45706954-45706976, 45706985, 45706990-45706992, 45707016, 45707424-45707467, 45708228-45708257, 45708281-45708309, 45708318-45708319, 45708331-45708337, 45709540, 45709574-45709575, 45709581-45709609, 45709635-45709680, 45709871-45709935, 45709948-45709951, 45710978-45710989, 45710995-45710996, 45711003-45711031, 45711090-45711093, 45712198-45712202, 45712216-45712284, 45712876-45713058, 45713679-45713700, 45713707-45713746, 45713773-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717588, 45717605-45717610
527ITGB2210.482683982683981195231046306741-46306764, 46306790-46306800, 46308608-46308766, 46308785-46308810, 46309191-46309278, 46309285-46309306, 46309317-46309360, 46309393-46309398, 46309915, 46309936-46309954, 46309976, 46309979-46310028, 46310051-46310122, 46310131-46310137, 46311724-46311911, 46313324-46313332, 46313341-46313404, 46313413-46313446, 46314916-46314956, 46319011-46319023, 46319062-46319077, 46320238-46320326, 46320352-46320375, 46320390, 46321407-46321410, 46321434-46321446, 46321466-46321488, 46321522-46321526, 46321529-46321532, 46321536, 46321575-46321591, 46321635-46321648, 46326846-46326868, 46326947-46326972, 46330199-46330236, 46330285-46330287, 46330649, 46330652-46330654, 46330657-46330666, 46330677
528COL18A1210.391452991452993204526546875446, 46875466-46875498, 46875506-46875526, 46875559, 46875564-46875567, 46875617-46875650, 46875686-46875687, 46875691, 46875739, 46875747, 46875753, 46875772, 46875843-46875881, 46875909, 46875920-46875921, 46875934-46875943, 46875949, 46875966, 46875973, 46875982, 46876026-46876056, 46876066-46876076, 46876120-46876153, 46876169-46876228, 46876246, 46876276, 46876283-46876296, 46876305, 46876323-46876328, 46876332, 46876335-46876336, 46876361-46876382, 46876388-46876425, 46876439, 46876454, 46876458, 46876463, 46876507-46876590, 46876616, 46876629-46876697, 46876707-46876711, 46876714-46876718, 46876726-46876727, 46876732-46876746, 46876751, 46876754-46876766, 46876769-46876795, 46888156-46888161, 46888181, 46888186, 46888216-46888245, 46888250, 46888259-46888263, 46888270-46888277, 46888326, 46888331, 46888335, 46888366-46888413, 46888464-46888490, 46888519-46888535, 46888544, 46888550, 46888597-46888632, 46888642, 46888646-46888679, 46895409-46895445, 46896318-46896341, 46896360-46896370, 46897353-46897372, 46897668, 46897673-46897675, 46897717-46897723, 46897766, 46897778, 46897789, 46899852-46899878, 46899988, 46900027, 46900035-46900059, 46900658, 46900699-46900726, 46900745-46900758, 46900767-46900768, 46900771-46900772, 46906775-46906846, 46906857-46906868, 46906871-46906877, 46906891, 46907361, 46907395-46907423, 46908332-46908350, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915302, 46915317-46915318, 46915321-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929275, 46929285-46929332, 46929337-46929378, 46929384-46929515, 46929978-46930175, 46931025-46931113, 46932102-46932142, 46932148-46932312
529COL6A1210.666342727567221030308747401765-47401861, 47402548-47402634, 47402645-47402677, 47404183-47404252, 47404259-47404383, 47406440, 47406447-47406456, 47406467-47406469, 47406477-47406484, 47406508-47406599, 47406858-47406941, 47406951-47406953, 47406958-47406975, 47407069-47407076, 47407086-47407088, 47407413-47407427, 47407524-47407568, 47408998-47409013, 47409531-47409533, 47409543, 47409546-47409548, 47409560-47409562, 47410172-47410198, 47410292-47410336, 47410736-47410740, 47410893, 47411924-47411939, 47412093-47412130, 47412277-47412279, 47414094, 47414129-47414141, 47417371-47417383, 47417614-47417615, 47417646-47417652, 47418035-47418036, 47418040-47418042, 47418073-47418074, 47418079-47418085, 47418811-47418845, 47419088-47419092, 47419110, 47419113-47419132, 47419571-47419586, 47421271-47421273, 47422139-47422145, 47422521-47422527, 47422604-47422613, 47423492-47423496, 47423636, 47423713-47423719
530COL6A2210.219934640522882387306047531393-47531396, 47531406-47531505, 47531893-47531904, 47531920-47531943, 47531954-47531956, 47531969-47532047, 47532054-47532067, 47532157-47532202, 47532223, 47532246-47532265, 47532274-47532320, 47532339-47532353, 47532397-47532429, 47532444-47532445, 47532450-47532451, 47532464, 47532468-47532491, 47532718, 47533924, 47535786-47535793, 47535796, 47535923-47535967, 47536291-47536317, 47536565-47536591, 47536684-47536728, 47537314-47537343, 47537352-47537367, 47537788-47537850, 47538528-47538590, 47538944-47539033, 47539702-47539764, 47540429-47540483, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542434, 47542442-47542445, 47542808-47542851, 47544573-47544595, 47544608-47544617, 47544622-47544623, 47544627, 47544799-47544834, 47545180-47545185, 47545190, 47545225, 47545387-47545419, 47545440, 47545453-47545481, 47545490-47545491, 47545497-47545531, 47545699-47545734, 47545751-47545805, 47545846-47546148, 47546430-47546455, 47551868-47552093, 47552100-47552171, 47552174-47552176, 47552184-47552208, 47552218-47552466
531COL6A2210.02923976608187133234247552184-47552208, 47552218-47552524
532FTCD210.0141451414514151603162647556910-47556987, 47557153-47557181, 47557196-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
533PCNT210.954949555488964511001147786610-47786648, 47786685-47786704, 47786737-47786746, 47787030, 47805819-47805821, 47808742-47808743, 47808785-47808799, 47809340, 47818037-47818044, 47822358-47822359, 47831296, 47831447-47831449, 47831960-47831966, 47836434-47836435, 47836686-47836689, 47836710-47836719, 47841900-47841911, 47841933-47841960, 47845842-47845852, 47847556-47847579, 47847633-47847634, 47847639-47847642, 47847690-47847709, 47848338-47848372, 47848385-47848421, 47848438, 47848443-47848468, 47848492-47848504, 47850036-47850056, 47850088-47850094, 47850116-47850136, 47850421, 47850480-47850484, 47850514, 47851481-47851496, 47851608-47851611, 47851750-47851751, 47855884-47855887, 47855983-47856009, 47863854
534PRODH220.62451469772601677180318900696-18900704, 18900787-18900824, 18900854-18900867, 18900980-18900989, 18901004, 18901014-18901025, 18901029-18901038, 18904403-18904415, 18904419, 18905884-18905903, 18905945-18905969, 18905977, 18907055-18907081, 18907260-18907279, 18907298-18907311, 18908872-18908878, 18908897-18908936, 18909899-18909905, 18910332, 18910352, 18910355, 18910361-18910362, 18910400, 18910414, 18910435-18910446, 18910632-18910664, 18910680-18910682, 18910687-18910692, 18912575, 18912596-18912623, 18912644-18912651, 18912654, 18912661-18912674, 18912678, 18912686, 18912705, 18913228-18913235, 18918503-18918506, 18918649-18918655, 18923528-18923800
535GP1BB22062162119711093-19711102, 19711377-19711987
536TBX1220.49865591397849746148819747167-19747192, 19748428-19748691, 19748792, 19748795-19748797, 19748801-19748803, 19750850, 19753289-19753348, 19753445-19753446, 19753449-19753475, 19753478, 19753481, 19753495-19753518, 19753912-19754005, 19754017-19754043, 19754046-19754050, 19754069-19754117, 19754151-19754179, 19754190-19754231, 19754279-19754365
537SMARCB1220.9835924006908519115824175823-24175834, 24176336-24176342
538UPB1220.99913419913421115524906771
539CHEK2220.9500283929585588176129083895-29083917, 29083931-29083966, 29085165-29085171, 29091139-29091160
540NF2220.9552572706935180178829999988-30000033, 30000064, 30000067-30000099
541MYH9220.9977902430732613588336698710-36698712, 36712630-36712639
542TRIOBP220.770357847280921630709838119883-38119931, 38119976-38119982, 38120031-38120068, 38120176-38120178, 38120300, 38120426-38120432, 38120549-38120576, 38120918-38120924, 38121601-38121620, 38121698, 38121704, 38121739-38121757, 38121836, 38121840-38121844, 38121899-38121913, 38121973-38121986, 38122056-38122088, 38122120-38122133, 38122146-38122197, 38122222-38122223, 38122252-38122270, 38122363-38122384, 38122448-38122468, 38122486, 38122503-38122506, 38122509-38122510, 38129305, 38129311-38129320, 38129355-38129376, 38129395-38129419, 38130406-38130485, 38130510-38130515, 38130523-38130629, 38130648-38130649, 38130652, 38130663-38130705, 38130717-38130745, 38130749-38130751, 38130765-38130766, 38130771-38130776, 38130815-38130836, 38130852, 38130859-38130864, 38130875-38130902, 38130918-38130929, 38130946-38130969, 38130978, 38130982, 38130993-38131056, 38131068-38131088, 38131163-38131171, 38131194-38131279, 38131286-38131333, 38131371-38131387, 38131403-38131443, 38134709-38134726, 38136902-38136917, 38136940-38136961, 38137005-38137029, 38147779-38147834, 38150892, 38150895, 38150922-38150926, 38150963, 38150976-38150985, 38151149-38151154, 38151169-38151170, 38151181-38151197, 38151647-38151654, 38153684-38153696, 38153767-38153822, 38153829-38153836, 38153865, 38153878-38153879, 38153889, 38153901-38153962, 38154032-38154056, 38154063, 38154108-38154145, 38155183-38155200, 38155237-38155239, 38155246, 38155248, 38155256-38155261, 38161765, 38161771-38161772, 38161811-38161812, 38165145-38165187, 38165274-38165284, 38165317-38165334, 38165357-38165374, 38168738-38168744
543SOX10220.91006423982869126140138379366, 38379370, 38379384-38379419, 38379448, 38379465-38379470, 38379501, 38379565, 38379572, 38379598-38379622, 38379659-38379666, 38379672-38379716
544PLA2G6220.1574642126789441248938508274-38508312, 38508511-38508584, 38509494-38509511, 38509525, 38509530, 38509533, 38509549-38509675, 38509682, 38509690-38509691, 38509700-38509708, 38509731-38509869
545PLA2G6220.6881453944651755242138508168-38508312, 38508511-38508584, 38509494-38509511, 38509525, 38509530, 38509533, 38509549-38509661, 38511534-38511571, 38511588, 38511600-38511615, 38511627, 38511630-38511688, 38512100-38512110, 38512119-38512136, 38512158-38512218, 38516791, 38516835-38516852, 38516879-38516916, 38519107-38519111, 38519117, 38519133-38519143, 38519146-38519148, 38519159, 38519169-38519179, 38519183, 38519188-38519190, 38519221, 38519233-38519256, 38522393, 38522400-38522402, 38522405-38522417, 38522423, 38522448-38522456, 38524343-38524356, 38524411, 38524414, 38524417, 38528840, 38528900-38528929, 38528995, 38529003-38529004, 38531081
546TNFRSF13C220.2270270270270342955542321383-42321387, 42321401-42321418, 42321423, 42321431-42321434, 42321478-42321503, 42321551-42321558, 42322105-42322335, 42322642-42322777
547CYB5R3220.954746136865344190643027398-43027417, 43045301-43045321
548ATXN10220.9803921568627528142846067956-46067970, 46068015-46068023, 46068027, 46068038-46068039, 46068041
549TRMU220.956556082148555126646731717-46731726, 46751341-46751342, 46751366-46751402, 46752819-46752824
550ALG12220.76141785957737350146750298096, 50301386-50301389, 50301431-50301480, 50301547-50301548, 50301551-50301552, 50301558, 50301562, 50301577-50301584, 50301592, 50303542-50303561, 50303590, 50303595-50303598, 50303607, 50303611, 50303621-50303622, 50303626, 50303633, 50303661-50303671, 50303674, 50303682, 50303696-50303732, 50304129-50304134, 50304158-50304177, 50304227-50304228, 50304241-50304255, 50307037-50307067, 50307094, 50307100-50307103, 50307108-50307113, 50307120-50307143, 50307152-50307165, 50307252-50307258, 50307286, 50307298-50307337, 50307348-50307350, 50307353-50307355, 50307365, 50307368-50307385, 50307393, 50307412-50307413
551MLC1220.82186948853616202113450502463-50502503, 50502528-50502581, 50502593-50502611, 50502621-50502622, 50502627, 50506914-50506963, 50506977-50506984, 50508976-50508994, 50512725-50512732
552SCO2220.917602996254686680150962075-50962112, 50962530, 50962650-50962676
553TYMP220.45824706694272785144950964199-50964218, 50964224-50964258, 50964272-50964347, 50964430-50964570, 50964675-50964772, 50964781-50964825, 50964830-50964856, 50964862, 50964865-50964872, 50964881-50964886, 50964896, 50964900-50964902, 50964905, 50965005-50965095, 50965097, 50965106-50965107, 50965110-50965136, 50965594-50965601, 50965605, 50965635-50965638, 50965695-50965701, 50967605-50967656, 50967671-50967677, 50967931-50967973, 50967986-50967993, 50968000-50968001, 50968013-50968029, 50968086-50968138
554ARSA220.91601049868766128152451063577, 51063580, 51063632-51063650, 51063659-51063706, 51063726, 51063751, 51063763, 51063879-51063880, 51064063, 51064076, 51064376-51064378, 51064382, 51064396, 51064451-51064485, 51065024, 51065027-51065032, 51065128, 51065141, 51065312, 51065442, 51066193
555SHANK3220.576086956521742223524451113070-51113132, 51113476-51113679, 51115057, 51115069, 51115074-51115086, 51115109-51115121, 51117013-51117121, 51117197-51117230, 51117242-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133203, 51133222-51133237, 51133241, 51133258-51133262, 51133271-51133303, 51133337-51133340, 51133350-51133393, 51133434-51133435, 51133464-51133470, 51135671-51135719, 51135951-51136143, 51137120-51137133, 51137140, 51137169-51137183, 51137188-51137197, 51137224-51137230, 51143211-51143223, 51143227-51143231, 51143251-51143290, 51143455-51143461, 51144560-51144564, 51158626-51158629, 51158707, 51158710, 51158727-51158772, 51158782-51158788, 51158803-51158804, 51158806-51158807, 51158814-51158821, 51158838-51158895, 51158903-51158942, 51158948-51158971, 51158979, 51159028-51159069, 51159093-51159117, 51159143-51159176, 51159183-51159202, 51159224-51159237, 51159251-51159308, 51159317-51159326, 51159401, 51159424-51159450, 51159486-51159507, 51159592-51159633, 51159701, 51159839-51159845, 51159918-51159935, 51159980, 51160417, 51169149-51169159, 51169175, 51169180-51169182, 51169216-51169226, 51169245-51169286, 51169307, 51169395-51169407, 51169421-51169422, 51169432-51169455, 51169482-51169510, 51169556-51169594, 51169599-51169626, 51169634-51169635, 51169655-51169661, 51169670-51169713, 51169738-51169739
556FANCD230.9823369565217478441610088264-10088311, 10107087-10107093, 10107165-10107171, 10114941-10114947, 10115015-10115021, 10135999, 10140469
557VHL30.91900311526485264210183657-10183673, 10183698-10183731, 10183815
558TSEN230.994992846924187139812531393-12531399
559WNT7A30.998095238095242105013921309-13921310
560TMEM4330.993349958437248120314170977-14170981, 14172444-14172446
561CRTAP30.9900497512437812120633155894-33155904, 33156004
562SCN5A30.9911699779249452588938616788-38616799, 38616915-38616919, 38618156-38618161, 38618193-38618208, 38645410-38645415, 38645554-38645560
563TMIE30.6928104575163414145946742860-46742940, 46742955-46742968, 46742995-46743013, 46743019-46743045
564TMIE30.895966029723994947146742995-46743013, 46743019-46743045, 46751074-46751076
565TREX130.75765765765766269111048507898, 48507903-48507911, 48507973, 48508024-48508044, 48508057-48508070, 48508097-48508134, 48508162-48508169, 48508225-48508244, 48508322-48508335, 48508402-48508424, 48508464-48508473, 48508481, 48508487, 48508590-48508635, 48508686-48508697, 48508711, 48508758-48508774, 48508881-48508883, 48508899-48508903, 48508915-48508928, 48508930-48508937, 48508975, 48508988
566COL7A130.845161290322581368883548603962-48603968, 48605939-48605943, 48607048-48607056, 48607333, 48607756, 48608083, 48608555-48608560, 48609567-48609574, 48609833-48609840, 48609942, 48609949-48609957, 48610610-48610612, 48610620, 48610634, 48610781, 48611309-48611323, 48611970, 48612497-48612499, 48612556-48612559, 48612674-48612675, 48612808-48612824, 48612852-48612860, 48612863-48612864, 48612877, 48612882, 48612918-48612928, 48612934-48612972, 48613059, 48613072, 48613099, 48613102, 48613112, 48613115-48613116, 48613163-48613168, 48613171-48613176, 48613179-48613180, 48613302-48613303, 48613329-48613335, 48613699-48613729, 48614109-48614145, 48614166-48614172, 48614193, 48614201-48614202, 48614344-48614352, 48614437-48614460, 48615794, 48615797-48615798, 48615894-48615911, 48615947, 48616358, 48616630-48616653, 48616682-48616710, 48616805-48616817, 48616820, 48616937-48616948, 48617021-48617041, 48617050-48617072, 48617097-48617101, 48617246-48617247, 48617464-48617479, 48617482, 48617489-48617490, 48617740-48617746, 48617762-48617763, 48617773-48617777, 48618701-48618702, 48618707, 48618746-48618752, 48619034-48619036, 48619040-48619041, 48619171-48619192, 48619353, 48619360-48619363, 48619375-48619376, 48619939-48619941, 48619944, 48620042-48620057, 48620086, 48620475-48620477, 48620859, 48621353, 48621384, 48621984, 48622352-48622353, 48622365, 48622469-48622490, 48622535-48622538, 48623001-48623012, 48623024-48623052, 48623124-48623146, 48623263-48623289, 48623569, 48623590-48623634, 48623821-48623824, 48623833-48623838, 48623889-48623903, 48624008-48624028, 48624088, 48624422-48624435, 48624512, 48624519, 48624676-48624709, 48624738-48624744, 48624864-48624870, 48624911-48624936, 48624951-48624973, 48625240, 48625263-48625344, 48625741-48625776, 48625790-48625819, 48626075-48626084, 48626092, 48626110-48626150, 48626160-48626161, 48626170-48626187, 48626203, 48626213, 48626371-48626385, 48626399-48626428, 48626760-48626765, 48626818, 48626826, 48626833-48626870, 48626876-48626880, 48627032-48627044, 48627057-48627083, 48627094-48627151, 48627671-48627697, 48627752, 48628145-48628150, 48628203, 48628206, 48628905, 48629659-48629675, 48629819, 48630112-48630113, 48630118, 48630220
567SLC25A2030.99889624724062190648936180
568LAMB230.87048360200111699539749158888-49158894, 49158951-49158968, 49158977, 49159117-49159129, 49159258-49159264, 49159408, 49159426-49159469, 49159484, 49160156-49160158, 49160269-49160289, 49160347-49160349, 49160362-49160374, 49160456-49160462, 49160581-49160590, 49160674-49160719, 49160756-49160760, 49160765-49160768, 49160915, 49161043, 49161521, 49161652-49161656, 49161659-49161660, 49161686, 49161695-49161698, 49161846, 49161853, 49162015-49162045, 49162167, 49162304-49162305, 49162334-49162358, 49162456-49162489, 49162530-49162549, 49162708-49162743, 49162819-49162859, 49162862-49162876, 49162885-49162910, 49166453-49166454, 49167078-49167081, 49167293-49167309, 49167444-49167446, 49167744, 49167762-49167846, 49168239-49168241, 49168384-49168397, 49168490-49168496, 49169112-49169117, 49169131, 49169135-49169148, 49169583-49169616, 49169704-49169707, 49169928-49169935, 49169937, 49170083-49170085, 49170226-49170265
569AMT30.83580858085809199121249455038, 49456462, 49456771-49456776, 49456802-49456812, 49457143-49457153, 49457170-49457182, 49457647-49457682, 49457755-49457775, 49458946-49458951, 49459005, 49459537-49459548, 49459561, 49459606-49459608, 49459686-49459704, 49459805-49459833, 49459845-49459852, 49459864-49459883
570GNAT130.88603988603989120105350229259, 50231012-50231017, 50231093-50231096, 50231186-50231195, 50231241, 50231547-50231595, 50231608-50231625, 50231633-50231654, 50232223-50232228, 50232252, 50232327, 50232339
571HYAL130.81727828746177239130850337940, 50337955, 50337973-50338000, 50338056-50338057, 50338077-50338083, 50338086, 50338097, 50338115-50338151, 50338162-50338164, 50338203-50338208, 50338426-50338484, 50338508, 50339558-50339563, 50339576, 50339587-50339607, 50339622, 50339688, 50339838-50339860, 50339988-50340016, 50340033-50340042
572TNNC130.886831275720165548652486136-52486142, 52486223-52486244, 52486264-52486268, 52488011-52488031
573RFT130.9852398523985224162653156390-53156413
574TKT30.977564102564142187253289852-53289893
575HESX130.99820788530466155857233852
576FLNB30.9951338199513438780957994390-57994407, 57994439-57994449, 57994454, 57994464, 57994517-57994523
577PDHB30.999074074074071108058419364
578ATXN730.90556730091614268283863898275-63898333, 63898357-63898561, 63898573, 63898577, 63898583-63898584
579PROS130.9950763170851810203193593119, 93596018-93596019, 93617365-93617371
580ARL13B30.9813519813519824128793761883, 93761886-93761893, 93761986, 93761993-93762005, 93762044
581CPOX30.9875457875457917136598312157-98312173
582ACAD930.892282958199362011866128598553-128598564, 128598603-128598630, 128603569, 128603573-128603576, 128603579, 128615364, 128616475-128616478, 128621397, 128621400-128621404, 128621443-128621471, 128622905-128622958, 128623271-128623292, 128623334-128623348, 128624990-128625006, 128625076-128625082
583RHO30.97612225405922251047129251116-129251125, 129251384-129251390, 129251417, 129251596, 129252479-129252484
584NPHP330.97971450037566813993132438549-132438553, 132438624-132438647, 132440991-132441022, 132441066, 132441069-132441070, 132441075-132441079, 132441106-132441107, 132441124-132441126, 132441131-132441137
585FOXL230.95667550839965491131138664716, 138664808, 138664852-138664898
586HPS330.9996683250414613015148847682
587BCHE30.9994472084024311809165548695
588PDCD1030.998435054773081639167413442
589GHSR30.9990917347865611101172166100
590EIF2B530.98938134810711232166183853331-183853332, 183861240-183861246, 183862718-183862731
591ALG330.93773728170084821317183966575-183966599, 183966609, 183966613-183966632, 183966636, 183966647-183966670, 183966679, 183966692-183966700, 183966705
592OPA130.9986876640419943048193355006-193355009
593CPN230.891941391941391771638194061856, 194061865-194061876, 194061906-194061907, 194061911, 194061922-194061965, 194062017, 194062094-194062109, 194062114-194062115, 194062119-194062120, 194062149-194062160, 194062186-194062218, 194062231-194062233, 194062237-194062239, 194062257, 194062690-194062715, 194062873, 194063089-194063096, 194063335, 194063345-194063352
594PDE6B40.661598440545818682565619519-619524, 619534, 619548-619551, 619556-619557, 619717-619729, 619834-619840, 629720-629740, 647641-647710, 647714-647722, 647739-647781, 647869-647943, 648624-648625, 648631-648636, 648643-648644, 648659, 648662-648667, 649743-649746, 649749-649784, 650043-650050, 650663-650669, 650686-650688, 650713-650739, 650750-650782, 650798, 651146, 651150, 651187-651215, 651225-651283, 652741-652749, 652753, 652761-652763, 652774-652779, 652784, 654266-654270, 654273-654295, 654314-654329, 654378-654381, 655923-655924, 655941-655942, 656001-656030, 656311, 656317-656320, 656333-656336, 656347-656351, 656382-656386, 656389, 656398-656402, 656889-656917, 656930-656955, 656975, 657576-657582, 657589-657659, 657938-657939, 657970-658010, 658672, 659051-659063, 659111-659118, 660320-660329, 660351, 660379, 660398-660403, 661646-661652, 661654, 661755, 661761, 663835-663851, 663877-663896
595IDUA40.2033639143730915631962980873-980932, 980950-980952, 980959-980989, 980991, 981002-981024, 981597-981684, 981703-981710, 981717-981737, 994400-994410, 994439, 994450-994485, 994708-994733, 994744-994777, 995256-995274, 995282-995336, 995344-995351, 995467-995470, 995485-995537, 995551, 995575-995577, 995580-995583, 995590, 995594-995610, 995613, 995635-995669, 995770-995781, 995795-995832, 995847, 995857-995933, 995945-995949, 996057-996081, 996085, 996088-996091, 996094-996096, 996124-996129, 996138-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997373, 997383, 997387, 997400-997402, 997800-997817, 997837-997900, 998048-998071, 998080-998181
596FGFR340.27400082406263176224271795662-1795718, 1795726-1795765, 1800981-1801100, 1801116-1801158, 1801166-1801244, 1801474-1801503, 1801527-1801539, 1803094-1803223, 1803244-1803263, 1803347-1803373, 1803387-1803407, 1803416-1803470, 1803562-1803711, 1803720-1803752, 1804641-1804653, 1804678, 1804687, 1804721-1804760, 1804774-1804791, 1806065-1806066, 1806069, 1806081, 1806113-1806165, 1806202-1806219, 1806235-1806247, 1806566-1806696, 1807082-1807091, 1807150-1807152, 1807160-1807195, 1807286-1807295, 1807314, 1807325-1807327, 1807331-1807342, 1807372-1807396, 1807477-1807501, 1807520-1807556, 1807562-1807650, 1807659-1807667, 1807778-1807809, 1807859-1807900, 1807984-1808004, 1808024-1808054, 1808273-1808274, 1808347-1808367, 1808376-1808389, 1808556-1808567, 1808575-1808628, 1808637-1808661, 1808843-1808872, 1808878-1808945, 1808948, 1808951-1808989
597SH3BP240.953150242326338718572819967, 2819974, 2820018-2820063, 2820078-2820079, 2831568, 2831779, 2831796, 2831806-2831807, 2831870, 2833650-2833678, 2835512, 2835531
598HTT40.9642592003393833794293076553-3076557, 3076603, 3076604-3076606, 3076618-3076747, 3076765, 3076775, 3076789, 3076796-3076806, 3231704-3231705, 3234921-3234924, 3234927, 3234952-3234977, 3234990, 3234998-3235009, 3235018, 3235024, 3240250-3240253, 3240291-3240298, 3240320-3240326, 3240545-3240565, 3240578-3240596, 3240600, 3240626-3240629, 3240643-3240648, 3240668-3240671, 3240674-3240677, 3240680, 3241582-3241583, 3241587-3241597, 3241686, 3241729-3241762, 3241778-3241786
599DOK740.19471947194719122015153465103-3465156, 3465233-3465278, 3475133-3475177, 3475190-3475200, 3475214, 3475219, 3475222-3475241, 3475252-3475253, 3475263-3475301, 3475308-3475314, 3475342-3475363, 3478069-3478097, 3478122-3478204, 3478212-3478269, 3487266-3487300, 3487314-3487347, 3487373-3487385, 3491404-3491407, 3491440-3491446, 3491483-3491499, 3491519, 3494486-3494497, 3494522-3494734, 3494743, 3494753-3495216, 3495228
600DOK740.0693739424703895505913494489-3494497, 3494522-3494734, 3494743, 3494753-3495079
601EVC240.995925642984471639275710030-5710039, 5710167-5710172
602EVC40.990265189660962929795713193-5713200, 5755620-5755640
603WFS140.994762439206881426736279249-6279258, 6279349-6279352
604SLC2A940.99938385705484116239943669
605PROM140.9923017705927620259816014916, 16014919-16014928, 16014954-16014961, 16020082
606CNGA140.997368421052636228047954651-47954652, 47972918-47972919, 47973116-47973117
607KIT40.981235073353855293155524182-55524225, 55524234-55524240, 55561719-55561722
608COQ240.9783549783549825115584205871-84205888, 84205900, 84205939-84205944
609CDS140.9682539682539744138685504603-85504646
610PKD240.9769521843825267290788928900-88928955, 88928964-88928971, 88929003-88929005
611MANBA40.99545454545455122640103682017-103682028
612CISD240.9681372549019613408103808498-103808499, 103808512-103808522
613CFI40.9988584474885821752110673634-110673635
614ANK240.9996631295267411874114161718-114161720, 114161724
615MFSD840.98137443802184291557128859959-128859987
616GLRB40.99263721552878111494158041708-158041717, 158041758
617GK40.96269554753309621662166199807-166199813, 166200084-166200138
618SDHA50.916791979949871661995218496-218516, 251107-251114, 251143-251149, 251188-251218, 251500-251546, 251562-251569, 254569-254612
619SLC6A1950.6435695538057767919051201766-1201967, 1208867-1208887, 1208912-1208919, 1208930-1208952, 1208961-1208993, 1210559-1210613, 1210622-1210653, 1210665, 1210679, 1212476-1212477, 1212487-1212491, 1212522-1212537, 1212559-1212598, 1213578-1213660, 1213669, 1213672, 1213675, 1213687-1213688, 1214068-1214073, 1214078-1214080, 1214082-1214089, 1214092, 1214169-1214179, 1216685, 1216800-1216801, 1216998-1216999, 1217015, 1217023-1217024, 1217033-1217060, 1219125-1219136, 1219215-1219222, 1219620-1219637, 1219656-1219662, 1219688-1219716, 1219735-1219746, 1219753
620TERT50.56928508384819146433991253843-1253872, 1253895, 1253917-1253933, 1253941, 1254549-1254552, 1254555-1254557, 1254564-1254566, 1254618-1254619, 1258737-1258739, 1258742-1258743, 1258748-1258761, 1258771-1258773, 1260681, 1264519-1264526, 1264555-1264581, 1264587-1264592, 1266579-1266607, 1268635-1268661, 1268687-1268694, 1268699, 1268706-1268719, 1271234-1271263, 1271282-1271313, 1271319, 1272333-1272344, 1272385-1272395, 1279407-1279453, 1279463, 1279476-1279496, 1279509-1279539, 1279543, 1279567-1279585, 1280283-1280310, 1280329-1280419, 1280436, 1280446-1280453, 1293440-1293473, 1293541-1293545, 1293556-1293608, 1293615, 1293631-1293633, 1293667-1293709, 1293748, 1293814-1293842, 1293869-1293881, 1293912-1293927, 1293967-1294001, 1294026, 1294048, 1294053-1294065, 1294073, 1294086, 1294104, 1294124-1294147, 1294158-1294201, 1294209-1294231, 1294265, 1294268-1294305, 1294314-1294347, 1294360-1294366, 1294410-1294413, 1294416-1294437, 1294474-1294488, 1294525-1294735, 1294749-1294781, 1294886-1295104
621SLC6A350.9393451422436911318631409844-1409848, 1409928-1409935, 1420764-1420771, 1421991-1422014, 1422032-1422063, 1422078-1422080, 1422088-1422092, 1422115-1422129, 1432612-1432624
622SDHA50.83180428134557553271589424-1589435, 1593357-1593372, 1594510-1594529, 1594539-1594545
623NDUFS650.78933333333333793751801532, 1801554-1801558, 1801563-1801573, 1801586-1801623, 1801632-1801634, 1801637-1801639, 1801644-1801661
624FAM134B50.995314591700137149416616962-16616968
625NIPBL50.9985739750445612841537048649-37048660
626NDUFAF250.99803921568627151060448639
627SMN250.9954802259887488569362949, 69372390-69372391, 69372395
628SMN250.99887005649718188570238373
629HEXB50.993417115499711167173981124-73981130, 73981228-73981231
630ARSB50.9719101123595545160278280760, 78281011, 78281029-78281071
631RASA150.9821882951653956314486564298-86564331, 86564394-86564396, 86564536-86564553, 86670071
632GPR9850.9999471486707911892190144579
633APC50.9998827941865918532112111326
634HSD17B450.99231117141565172211118835122-118835138
635LMNB150.819420783645663181761126113201-126113256, 126113265-126113312, 126113333-126113339, 126113350-126113416, 126113430-126113559, 126168407-126168415, 126168476
636SLC22A550.95400238948626771674131705665-131705682, 131705790-131705805, 131705876-131705884, 131705894-131705897, 131705925-131705954
637MYOT50.99064796259185141497137221833-137221837, 137221859, 137221885-137221891, 137221896
638SIL150.98556998556999201386138282896-138282909, 138283104-138283106, 138283110-138283112
639PPP2R2B50.998498498498521332146077548-146077549
640TCOF150.9979338842975294356149748372, 149758886-149758892, 149758895
641NIPAL450.97930049964311291401156887273-156887279, 156887341-156887362
642NKX2-550.993846153846156975172660118-172660122, 172661872
643MSX250.9253731343283660804174151663-174151672, 174151763-174151772, 174151785-174151786, 174151789, 174151863-174151886, 174151892-174151904
644NSD150.9998764058830818091176562372
645F1250.74914089347079146582176829176, 176829181, 176829302-176829330, 176829432, 176829554-176829556, 176829562, 176829565-176829585, 176829598, 176829666, 176829669, 176829672, 176829676-176829682, 176829686-176829689, 176830256-176830321, 176830336, 176830342-176830344, 176830373-176830376
646F1250.535714285714298581848176829302-176829330, 176829432, 176829554-176829556, 176829562, 176829565-176829585, 176829598, 176829666, 176829669, 176829672, 176829676-176829682, 176829686-176829689, 176830256-176830321, 176830336, 176830342-176830344, 176830373-176830376, 176830397-176830398, 176830482-176830532, 176830542-176830596, 176830860-176830893, 176830906, 176830916-176830996, 176831003-176831010, 176831017-176831063, 176831077-176831087, 176831234-176831257, 176831263-176831267, 176831271, 176831299-176831320, 176831328, 176831331-176831332, 176831336-176831371, 176831381-176831388, 176831411-176831414, 176831500-176831574, 176831580-176831665, 176831831-176831842, 176831852-176831897, 176831903-176831913, 176832055-176832060, 176832103, 176832140-176832145, 176832324-176832327, 176832393-176832411, 176832963-176832974, 176832983-176833025
647NHP250.8290043290043379462177580550, 177580664-177580674, 177580698-177580742, 177580754-177580775
648GRM650.959377372817011072634178408658-178408669, 178408698-178408703, 178413132-178413134, 178413445-178413454, 178413474, 178413537, 178416131, 178421470-178421471, 178421579-178421600, 178421654, 178421670-178421688, 178421691-178421692, 178421812, 178421839-178421845, 178421927-178421945
649SQSTM150.828420256991692271323179247937-179248141, 179250001-179250007, 179250954, 179250993-179250998, 179251002-179251004, 179251064-179251067, 179251210
650FLT450.2991202346041128684092180038331-180038332, 180043383-180043386, 180043447-180043489, 180043910-180043913, 180043949-180043989, 180045770-180045920, 180046021-180046109, 180046253-180046318, 180046326-180046366, 180046665-180046707, 180046716-180046769, 180047173-180047308, 180047609-180047644, 180047656-180047657, 180047670-180047676, 180047688-180047715, 180047876-180048007, 180048113-180048175, 180048196-180048252, 180048542-180048552, 180048569-180048571, 180048574-180048575, 180048579, 180048590, 180048618-180048652, 180048667-180048698, 180048713-180048904, 180049739-180049768, 180049775-180049783, 180049810-180049839, 180050935-180050976, 180050986-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076496, 180076513-180076545
651FOXC160.5168471720818380316621610682-1610685, 1610719-1610748, 1610758-1610819, 1610826-1610849, 1610859-1610932, 1611017-1611040, 1611066-1611072, 1611089-1611163, 1611184-1611202, 1611256-1611302, 1611322-1611358, 1611399-1611436, 1611463-1611465, 1611470-1611474, 1611480, 1611492, 1611495-1611496, 1611505-1611517, 1611545-1611619, 1611644-1611737, 1611740, 1611768, 1611772-1611775, 1611785-1611825, 1611840-1611841, 1611919-1611930, 1611945, 1611950-1611964, 1612014-1612062, 1612135-1612165, 1612180-1612183, 1612220-1612226
652TUBB2B60.8565022421524719213383225028-3225057, 3225131, 3225215-3225247, 3225320-3225358, 3225409-3225414, 3225427-3225457, 3225466-3225496, 3225568, 3225577, 3225586, 3225639, 3225742-3225748, 3227721-3227730
653DTNBP160.999053030303031105615663070
654ATXN160.9685457516339977244816327434, 16327592-16327601, 16327850-16327856, 16327861-16327900, 16327903, 16327906-16327909, 16327912-16327918, 16327921, 16327925-16327930
655HLA-H60.9563375029855996-29856001, 29856423-29856448, 29856633
656NEU160.9583333333333352124831827957, 31829837-31829876, 31829926-31829936
657TNXB60.65370658372214668192931976391-31976437, 31976458-31976459, 31976464, 31976817-31976818, 31976830-31976834, 31976919-31976953, 31976975-31976976, 31977075-31977095, 31977106-31977146, 31977156, 31977164, 31977171-31977173, 31977177-31977181, 31977188, 31977333, 31977359, 31977377, 31977385, 31977581, 31977584, 31977607-31977646, 31977742-31977754, 31977768-31977822, 31977860-31977874, 31978002, 31978017-31978091, 31978230, 31978293, 31978350, 31978575-31978596, 31978774-31978800, 31978941-31978987, 31979035, 31979304-31979315, 31979331, 31979360, 31979384-31979386, 31979417, 31979424-31979425, 31979450-31979451, 31979456-31979477, 31979486-31979529, 31979538-31979573, 31979587, 31979594, 31979597, 31979600, 31979607-31979609, 31979626-31979627, 31979631-31979632, 31979929-31979930, 31980027, 31980071-31980112, 31980127-31980142
658CYP21A260.66868279569892493148832006200-32006234, 32006244-32006285, 32006354-32006389, 32006521-32006529, 32006871-32006885, 32006904, 32006958-32006964, 32006972-32006973, 32007170-32007171, 32007218, 32007413-32007424, 32007790-32007792, 32007840, 32007901, 32007955-32007982, 32008183-32008198, 32008237, 32008267-32008315, 32008353-32008361, 32008445-32008454, 32008471-32008485, 32008522, 32008648-32008794, 32008809-32008841, 32008878-32008894
659TNXB60.8996779008563112771272932009128, 32009136-32009140, 32009152, 32009163-32009202, 32009551, 32009562-32009574, 32009597-32009631, 32009654-32009688, 32009789-32009798, 32009807-32009848, 32009873-32009874, 32009891, 32009899, 32009929, 32010053-32010071, 32010094, 32010112, 32010120, 32010252-32010291, 32010315, 32010318, 32010341-32010368, 32010377-32010379, 32010476-32010491, 32010502-32010556, 32010594-32010608, 32010736, 32010751-32010825, 32010964, 32011027, 32011084, 32011227, 32011231, 32011235-32011236, 32011254-32011298, 32011309-32011330, 32011526-32011564, 32011611-32011614, 32011795-32011842, 32011870-32011899, 32012185, 32012214, 32012220-32012227, 32012234-32012235, 32012238-32012240, 32012243, 32012262-32012334, 32012340-32012383, 32012392-32012398, 32012404-32012454, 32012461-32012463, 32012480-32012481, 32012485-32012486, 32012783-32012784, 32012804-32012843, 32012881, 32012961-32012963, 32012981-32013005, 32013061, 32013963-32013967, 32014000-32014026, 32014031, 32014053-32014056, 32014071, 32014074, 32014084-32014088, 32014092, 32014125, 32014153-32014177, 32014207-32014225, 32015514, 32015524, 32015594, 32015639, 32015645, 32015750-32015761, 32016144-32016151, 32016303, 32023690, 32023867-32023873, 32024377-32024386, 32025835-32025850, 32025869-32025902, 32025915-32025949, 32026000-32026006, 32026042-32026050, 32026071, 32026091, 32026097-32026100, 32029177, 32029182, 32029199-32029202, 32029329-32029330, 32029418-32029436, 32029971-32029975, 32032610-32032639, 32035464-32035471, 32035693, 32036181, 32036196, 32036201, 32036285-32036286, 32036296-32036297, 32036306-32036310, 32036315, 32036322, 32036821, 32036829-32036830, 32037444-32037445, 32038184, 32063936-32063938, 32064141, 32064148, 32064302-32064330, 32064517
660HLA-DQB160.882951653944029278632629224-32629234, 32632575-32632655
661COL11A260.9975052772980213521133132735-33132740, 33140136-33140138, 33143379-33143382
662SYNGAP160.9734623015873107403233388042-33388108, 33393616-33393619, 33393630-33393643, 33393654, 33411268-33411274, 33411547-33411549, 33411608-33411611, 33411645-33411651
663RPS1060.979919678714861049834392572-34392578, 34392859-34392861
664FANCE60.9633767846058359161135420363-35420381, 35420402, 35420405-35420424, 35420479, 35420489-35420500, 35420505-35420509, 35423866
665TULP160.9895641497851417162935479957-35479973
666MOCS160.78021978021978420191139883887, 39883937, 39893422-39893589, 39895068-39895317
667PRPH260.991354466858799104142672163-42672171
668PEX660.9663608562691199294342934585, 42936670-42936688, 42936721, 42946391-42946422, 42946463-42946467, 42946527-42946533, 42946635-42946659, 42946665-42946673
669CUL760.9939179909750831509743006605-43006606, 43008697-43008703, 43008745-43008757, 43016154-43016158, 43020315-43020318
670RSPH960.965102286401932983143612846-43612863, 43612867, 43612961-43612962, 43612966-43612973
671RUNX260.9738186462324441156645390448-45390488
672MUT60.998224589436314225349409622-49409625
673PKHD160.99991820040911222551637500
674EYS60.999894011658721943566044928
675LMBRD160.9938385705483710162370462239-70462248
676SLC17A560.998655913978492148874363516-74363517
677PDSS260.9825211200107655451-107655466, 107780270-107780274
678SEC6360.9991239597021522283108279201-108279202
679OSTM160.90746268656716931005108395468, 108395592-108395622, 108395705-108395737, 108395753-108395754, 108395826-108395837, 108395840-108395853
680GJA160.9930374238468281149121769046-121769053
681ENPP160.9906407487401262778132129219-132129234, 132129267-132129269, 132129275, 132129284, 132129300, 132129394-132129396, 132203576
682PEX760.9485596707818950972137143848-137143865, 137143891-137143922
683STX1160.993055555555566864144507997-144508001, 144508006
684EPM2A60.997991967871492996145956539-145956540
685SYNE160.99988633780405326394152819877-152819879
686TBP60.901960784313731001020170871010-170871109
687LFNG70.03859649122807109611402559496-2559927, 2564329-2564377, 2564853-2564952, 2565048-2565085, 2565091-2565201, 2565319-2565404, 2565878-2565981, 2565988, 2565991, 2565994, 2566003-2566043, 2566470-2566555, 2566780-2566785, 2566807-2566846
688PMS270.9536500579374312025896013046-6013052, 6013150-6013156, 6026595-6026640, 6026775, 6026813, 6026816, 6026984-6027005, 6027157, 6029453-6029464, 6037054, 6048630-6048650
689TWIST170.5221674876847329160919156562-19156593, 19156603-19156705, 19156716, 19156724, 19156765-19156769, 19156787-19156884, 19156894-19156944
690DNAH1170.9998526377836721357221630565-21630566
691HOXA1370.67180805484147383116727239030-27239034, 27239196-27239238, 27239248-27239564, 27239596-27239613
692RP970.99099099099099666633148846-33148851
693TXNDC370.9909451046972316176737889980-37889995
694GLI370.999578325954042474342005534, 42005678
695PGAM270.959317585301843176244104601-44104611, 44104755, 44104959-44104977
696GCK70.9571734475374760140144185164, 44185168, 44185228, 44186072-44186097, 44186105, 44186135, 44187297-44187318, 44193045-44193051
697CCM270.67940074906367428133545039933-45039962, 45108135, 45112372-45112382, 45113059-45113120, 45113137-45113170, 45113869-45113882, 45113894-45113929, 45113943-45114007, 45115376-45115434, 45115454-45115519, 45115534-45115576, 45115633-45115639
698EGFR70.9920176162950729363355087030-55087058
699GUSB70.9805725971370138195665439420, 65439539-65439542, 65439545, 65441126, 65441187, 65444460, 65445330-65445337, 65445364-65445366, 65447140-65447142, 65447146-65447151, 65447157-65447159, 65447163-65447168
700ASL70.52688172043011660139565546944-65546946, 65546948-65546949, 65547405-65547424, 65547883-65547906, 65548064-65548071, 65548107-65548146, 65551572-65551579, 65551615-65551649, 65551752-65551799, 65552358-65552372, 65552723-65552763, 65552766-65552769, 65553795, 65553806-65553843, 65553851-65553857, 65553865-65553908, 65554078-65554130, 65554299-65554322, 65554599-65554618, 65554629-65554682, 65556993-65557004, 65557026, 65557068-65557071, 65557544-65557580, 65557603-65557618, 65557624-65557650, 65557762, 65557793, 65557810-65557847, 65557853-65557886
701KCTD770.901149425287368687066094064-66094065, 66094068-66094074, 66094083-66094088, 66094119-66094189
702SBDS70.976095617529881875366456147-66456164
703NCF170.8363636363636413582572639948-72639989, 72640024, 72643668-72643717, 72644230-72644261, 72644293-72644294, 72648694-72648696, 72648746-72648750
704ELN70.9351724137931141217573442518-73442588, 73442593-73442595, 73466095, 73466157-73466160, 73466164, 73466262-73466297, 73467616-73467618, 73477483-73477486, 73477660-73477671, 73477698-73477699, 73477962, 73477966, 73477971, 73477985
705NCF170.87894288150043142117374193603-74193608, 74193639-74193678, 74197309-74197311, 74197975, 74202376, 74202428-74202429, 74202959, 74202967-74202969, 74202976-74203048, 74203383-74203393, 74203461
706POR70.60107684777288815204375609657-75609667, 75609753-75609768, 75610400-75610423, 75610451-75610490, 75610880-75610894, 75611574-75611584, 75612865-75612870, 75612926-75612936, 75613073-75613079, 75613086-75613098, 75613114-75613120, 75614139-75614160, 75614174-75614276, 75614376-75614384, 75614407-75614523, 75614920-75614939, 75614942, 75614963-75614967, 75614973-75614987, 75615000-75615007, 75615015-75615113, 75615149-75615167, 75615241-75615292, 75615316-75615344, 75615369-75615386, 75615491-75615529, 75615542-75615559, 75615655-75615712, 75615742-75615755, 75615792-75615799
707HSPB170.935275080906154061875932051-75932063, 75932075, 75932147, 75932271-75932291, 75933166-75933169
708ABCB470.999739583333331384087031475
709AKAP970.9999147048788811172491631993
710PEX170.9974039460020810385292116771-92116773, 92157693-92157699
711SGCE70.9904129793510313135694252656-94252657, 94257587-94257596, 94259122
712TFR270.98711554447215312406100231100-100231110, 100238621-100238626, 100238638-100238644, 100238652-100238653, 100238655-100238659
713SLC26A570.9977628635346852235103017300-103017304
714MET70.99760364246346104173116339583-116339592
715CFTR70.97794283142021984443117188713-117188753, 117188760-117188800, 117188842-117188853, 117235018-117235020, 117235045
716IMPDH170.916111111111111511800128036673-128036682, 128036687, 128038514-128038521, 128045821-128045852, 128045881, 128049395-128049406, 128049810-128049813, 128049819-128049820, 128049833-128049905, 128049917, 128049925, 128049938, 128049951-128049955
717FLNC70.8684274883834710768178128470692-128470756, 128470774-128470877, 128470883-128471043, 128475521, 128475583, 128475596-128475598, 128475601-128475616, 128477214-128477229, 128477243-128477311, 128477470-128477481, 128477593, 128477602, 128477735-128477742, 128477747-128477774, 128477780-128477781, 128477805, 128478074, 128478113-128478118, 128478334-128478383, 128478413-128478448, 128478474-128478480, 128478657-128478661, 128478665-128478667, 128478703, 128478741-128478769, 128478811, 128480095-128480096, 128480119, 128480122, 128480144-128480173, 128480659, 128480699-128480719, 128480960-128480966, 128480983-128481012, 128481290, 128481300-128481301, 128481343, 128481508-128481520, 128481582, 128481620, 128482296-128482298, 128482363, 128482376-128482406, 128482419-128482428, 128482647-128482652, 128482672, 128482702, 128482708, 128482711-128482714, 128482718, 128482726-128482752, 128482856-128482863, 128482873-128482879, 128482883, 128482888-128482889, 128482979, 128483331-128483332, 128484855, 128484858-128484863, 128488933, 128490515-128490516, 128490521-128490525, 128490857-128490860, 128491391-128491410, 128491514, 128491605-128491614, 128491622-128491629, 128492750-128492754, 128492763-128492765, 128492777-128492792, 128493038-128493044, 128493623-128493667, 128493885-128493891, 128494082-128494084, 128494087-128494111, 128494126, 128494150, 128494166-128494167, 128494174-128494175, 128494188, 128494246-128494270, 128494526-128494531, 128494537-128494539, 128494575, 128494729, 128494833, 128494836-128494840, 128494946-128494951, 128496971-128496975
718ATP6V0A470.99524375743163122523138394370, 138394377, 138394397-138394402, 138394479, 138437580-138437582
719BRAF70.99348109517601152301140624400-140624411, 140624415-140624416, 140624427
720KCNH270.892528735632183743480150642458-150642462, 150644107-150644124, 150644466-150644472, 150644515-150644522, 150644734-150644741, 150644766-150644787, 150644823, 150644870-150644874, 150648198, 150648588, 150648772-150648792, 150648834-150648835, 150648890-150648903, 150654411-150654425, 150654446-150654463, 150655166-150655223, 150655264-150655286, 150655293, 150655441-150655447, 150655487-150655491, 150655496, 150655524-150655534, 150671847-150671855, 150671881-150671888, 150671906, 150671913-150671914, 150671981-150672006, 150674926-150675001
721PRKAG270.98538011695906251710151271998-151272002, 151573615-151573634
722SHH70.429805615550767921389155595594-155595621, 155595628-155596042, 155596057-155596058, 155596066-155596182, 155596190-155596201, 155596209-155596240, 155596252, 155596302-155596357, 155596411, 155598993-155599000, 155599049, 155599083-155599168, 155599208-155599224, 155604801-155604816
723MNX170.536484245439475591206156798387-156798398, 156799212, 156799225, 156799264, 156799270, 156802381, 156802405-156802408, 156802434-156802438, 156802512-156803044
724GATA480.8352144469526219132911565841, 11565875-11565887, 11565899, 11565906-11565912, 11565921-11565926, 11565998-11566000, 11566018-11566019, 11566025-11566027, 11566051-11566073, 11566104-11566109, 11566118-11566121, 11566127-11566132, 11566164-11566193, 11566230-11566255, 11566258, 11566262, 11566266-11566267, 11566281-11566293, 11566305, 11566314-11566362, 11566385-11566405
725TUSC380.9828080229226418104715397964-15397974, 15398027-15398033
726ASAH180.994107744107747118817941511-17941517
727LPL80.9908963585434213142819796952-19796964
728NEFL80.9877450980392220163224813404-24813406, 24813408, 24813411-24813426
729CHRNA280.9817610062893129159027320577-27320591, 27320851-27320864
730ESCO280.9889258028792920180627650254-27650273
731ADAM980.973983739837464246038854597-38854645, 38854655-38854669
732ANK180.9913944502985649569441566330-41566332, 41583412-41583433, 41753873-41753896
733HGSNAT80.94287211740042109190842995649-42995757
734DECR180.994047619047626100891057159-91057161, 91057165-91057167
735GDF680.91008771929825123136897157150-97157162, 97157165, 97157241-97157252, 97157260-97157263, 97157329-97157333, 97157398-97157425, 97157483-97157527, 97157534, 97157618-97157619, 97157622, 97157630-97157640
736KIAA019680.9994252873563223480126091132-126091133
737KCNQ380.99159984726995222619133492608-133492619, 133492711-133492716, 133492729-133492730, 133492752, 133492766
738SLURP180312312143822561-143822694, 143823221-143823340, 143823746-143823803
739CYP11B280.9993386243386211512143993966
740PLEC80.43621487015297792414055144990361, 144990378-144990406, 144990412-144990417, 144990419, 144990462-144990484, 144990497, 144990500-144990501, 144990509, 144990512, 144990524, 144990528, 144990539-144990584, 144990609, 144990617-144990632, 144990719-144990739, 144990745-144990766, 144990772, 144990792, 144990796-144990799, 144990850, 144990908, 144990914-144990917, 144990992, 144991042, 144991045, 144991123, 144991182-144991184, 144991316-144991371, 144991387-144991394, 144991405-144991408, 144991415-144991418, 144991931-144991937, 144991967, 144992050-144992051, 144992170, 144992215, 144992219, 144992227-144992228, 144992261-144992292, 144992317-144992323, 144992351, 144992361, 144992387-144992412, 144992431-144992435, 144992447-144992475, 144992575-144992614, 144992706-144992736, 144992777, 144992790-144992791, 144992795, 144992816-144992869, 144992924, 144992940-144992974, 144992994-144993030, 144993050-144993076, 144993114-144993117, 144993209-144993242, 144993352, 144993377-144993409, 144993526-144993542, 144993565-144993570, 144993573, 144993595-144993611, 144993619, 144993622, 144993637-144993641, 144993646-144993649, 144993707-144993748, 144993760-144993766, 144993825-144993827, 144993842-144993843, 144993870, 144993875-144993883, 144993886, 144993890, 144993930-144993969, 144994002-144994015, 144994162-144994163, 144994177-144994179, 144994183, 144994187-144994190, 144994198, 144994201-144994203, 144994303-144994373, 144994380-144994433, 144994442-144994462, 144994535-144994540, 144994576, 144994590-144994636, 144994715-144994718, 144994826, 144994829, 144994837-144994839, 144994853, 144994972, 144994992, 144994998, 144995024-144995030, 144995158-144995163, 144995185-144995207, 144995318-144995349, 144995379, 144995406-144995428, 144995461-144995468, 144995487-144995509, 144995523-144995533, 144995543-144995578, 144995608-144995609, 144995612-144995614, 144995624-144995625, 144995628-144995634, 144995672-144995698, 144995736, 144995767-144995791, 144995803-144995859, 144995883-144995911, 144995946-144995953, 144996001, 144996011-144996014, 144996029, 144996079-144996083, 144996087, 144996111-144996121, 144996124-144996126, 144996134-144996136, 144996139, 144996152-144996169, 144996181-144996205, 144996224-144996283, 144996324, 144996373-144996401, 144996405-144996408, 144996441, 144996454-144996455, 144996458, 144996493-144996496, 144996501-144996502, 144996522-144996563, 144996673, 144996676-144996704, 144996746, 144996759-144996794, 144996874-144996903, 144996970-144996994, 144997003-144997010, 144997051-144997153, 144997202, 144997213, 144997218-144997222, 144997240-144997261, 144997273-144997275, 144997279, 144997283-144997324, 144997326, 144997385-144997471, 144997481-144997518, 144997560, 144997563-144997574, 144997648, 144997656, 144997660-144997677, 144997684-144997725, 144997762-144997792, 144997837-144997893, 144997895, 144997897-144997934, 144997954-144998009, 144998017-144998084, 144998101-144998114, 144998118, 144998123-144998126, 144998142-144998306, 144998315-144998332, 144998368-144998591, 144998598-144998641, 144998659-144998746, 144998751-144998753, 144998756-144998757, 144998761, 144998785-144998826, 144998850-144999012, 144999024-144999035, 144999043-144999584, 144999593-144999924, 144999942-145000052, 145000952-145001001, 145001019, 145001028-145001050, 145001159-145001203, 145001209-145001218, 145001221, 145001225-145001234, 145001243-145001249, 145001420, 145001423-145001426, 145001461-145001503, 145001578-145001695, 145001708-145001768, 145001774-145001844, 145001867-145001934, 145002022-145002156, 145003271-145003275, 145003317-145003421, 145003427-145003449, 145003582-145003690, 145003696-145003732, 145003815-145003997, 145004104-145004126, 145004132-145004184, 145004213-145004230, 145004312-145004423, 145004438-145004466, 145004552-145004591, 145004597-145004604, 145004649-145004659, 145005702-145005756, 145005768-145005782, 145005785, 145005792-145005827, 145006105-145006200, 145006298-145006402, 145006568-145006729, 145006803-145006880, 145006961-145007082, 145007091-145007279, 145007365-145007456, 145007480, 145007489-145007519, 145008166-145008209, 145008233-145008259, 145008486-145008591, 145008600-145008613, 145008803-145008856, 145008876-145008898, 145008978-145009017, 145009027-145009097, 145009179-145009231, 145009244-145009285, 145009366-145009481, 145010016-145010089, 145010100-145010182, 145011147-145011239, 145011333-145011410, 145012319-145012348, 145012368-145012369, 145012378, 145012384, 145012398-145012408, 145012799-145012806, 145024352-145024361, 145024369-145024371, 145024381-145024425, 145024443-145024481, 145024494-145024500, 145024517-145024626, 145024634-145024664, 145024693-145024700, 145024709-145024761, 145024771-145024874
741GPT80.08249496981891313681491145729688-145729697, 145729703-145729731, 145729762-145729846, 145729987-145730054, 145730071, 145730182, 145730197-145730262, 145730381-145730466, 145730477-145730514, 145730629-145730872, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732226, 145732305-145732383
742RECQL480.04990350151640534463627145736814-145736938, 145737064-145737172, 145737294-145737450, 145737527-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739356, 145739362-145739491, 145739573-145739583, 145739593, 145739596, 145739599-145739601, 145739620-145739644, 145739660-145739661, 145739672-145739738, 145739826-145739909, 145740320-145740360, 145740370-145740456, 145740534-145740626, 145740710-145740742, 145740752, 145740772-145740814, 145740826-145740841, 145741148-145741274, 145741372, 145741382-145741383, 145741405-145741699, 145741706-145742050, 145742058-145742089, 145742102-145742108, 145742110, 145742113-145742142, 145742434-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168
743DOCK890.98984126984127646300214977-214980, 396820-396824, 396864-396877, 396912-396926, 399196-399203, 399231-399248
744VLDLR90.971777269260117426222622198-2622271
745KCNV290.995115995116816382718399-2718400, 2718496, 2718503-2718507
746GLDC90.916421808684325630636592928-6592933, 6644616, 6644619-6644632, 6645245-6645396, 6645417-6645499
747CDKN2A90.968152866242041547121974779-21974780, 21974787-21974789, 21974793-21974802
748CDKN2A90.98659003831418752221994343-21994349
749B4GALT190.9899749373433612119733166981, 33166986, 33167135-33167144
750TPM290.9953216374269485535682123-35682126
751NPR290.9952290076335915314435792420-35792434
752GRHPR90.99898682877406198737424868
753FXN90.99368088467615463371650798-71650801
754VPS13A90.9981102362204718952579792631-79792637, 79792707-79792708, 79841436, 79896835-79896842
755ROR290.9834039548022647283294495424-94495426, 94712189-94712232
756PTCH190.9949355432780822434498270601-98270622
757FOXE190.783422459893052431122100616211-100616216, 100616264-100616270, 100616315-100616336, 100616340, 100616345, 100616351-100616360, 100616415-100616416, 100616540-100616546, 100616633-100616640, 100616682-100616748, 100616878-100616897, 100616908-100616930, 100616961-100616985, 100617016-100617046, 100617126-100617138
758TGFBR190.98346560846561251512101867534-101867558
759ABCA190.9998526377836716786107620828
760ALAD90.991943605236668993116153896-116153903
761DFNB3190.99302496328928192724117166338, 117168790-117168803, 117266870, 117266875-117266876, 117266965
762CDK5RAP290.9992960225272845682123151514-123151517
763NR5A190.637806637806645021386127245046-127245047, 127245079-127245082, 127245094, 127245122-127245138, 127245156-127245195, 127245284, 127253431-127253476, 127253496-127253500, 127253503, 127255317-127255325, 127255393-127255422, 127262464, 127262508-127262530, 127262536-127262561, 127262592-127262619, 127262709-127262746, 127262779-127262812, 127262856-127262857, 127262875, 127265368-127265428, 127265439-127265499, 127265573-127265623, 127265634, 127265643-127265661
764LMX1B90.95889186773905461119129376802-129376806, 129376855-129376867, 129377662-129377687, 129377822, 129455587
765ENG90.97875569044006421977130577961-130577962, 130577966, 130577969-130577971, 130577978, 130578036-130578038, 130578044-130578045, 130587625, 130588018-130588019, 130588024-130588027, 130588080, 130588083, 130616583-130616597, 130616629-130616634
766GLE190.98903195040534232097131267155-131267173, 131285938-131285941
767DOLK90.99567099567171617131709529-131709535
768TOR1A90.9759759759759824999132586199-132586210, 132586340-132586351
769ASS190.94915254237288631239133327641-133327653, 133333835, 133333943, 133333957-133333958, 133346259-133346260, 133370292-133370295, 133370355-133370379, 133370396-133370410
770POMT190.97061524334252642178134394339-134394344, 134394819-134394846, 134397434-134397462, 134398319
771SETX90.9988797610156898034135172291-135172299
772TSC190.9931330472103243495135772842-135772853, 135781275-135781286
773CEL90.716424482606786442271135937396-135937404, 135937415-135937431, 135937452-135937455, 135939839-135939845, 135939924-135939941, 135941982, 135942009, 135942020-135942022, 135942271-135942277, 135942548, 135944076-135944090, 135944521-135944527, 135944583-135944589, 135946440-135946448, 135946457-135946499, 135946523-135946540, 135946593-135947000, 135947016-135947067, 135947077, 135947084-135947096, 135947099, 135947126-135947127
774SURF190.71207087486157260903136218787-136218798, 136218832-136218837, 136218922-136218927, 136218935-136218936, 136218996-136218997, 136219318-136219322, 136219326-136219361, 136219371, 136220604, 136220660-136220665, 136220694-136220696, 136220700-136220701, 136220795, 136221541-136221559, 136221590-136221591, 136221688-136221689, 136221700-136221705, 136221710, 136221760, 136221763-136221791, 136221795-136221802, 136221804-136221806, 136223124-136223175, 136223276-136223329
775ADAMTS1390.7033146591970112714284136287638, 136288261, 136288268, 136289467, 136289485, 136290670-136290691, 136291063, 136291104-136291106, 136291167, 136291371, 136291431, 136293754-136293891, 136295059-136295221, 136297732-136297776, 136298504, 136298507, 136298543-136298577, 136298597, 136298600, 136298605-136298607, 136298612-136298616, 136298621, 136298776, 136301971-136302075, 136302869, 136302873-136302875, 136302881, 136302911-136302913, 136302917-136302931, 136302935, 136303405, 136303447, 136303466, 136304560, 136305509-136305510, 136305527-136305528, 136305573, 136305590, 136305629-136305646, 136307525-136307542, 136307565-136307602, 136307638-136307655, 136307760, 136307771-136307787, 136307793-136307864, 136308564-136308569, 136308629-136308658, 136310004, 136310054-136310077, 136310106-136310108, 136310111-136310112, 136310144-136310152, 136310166, 136310852, 136310874, 136310913-136310927, 136313732-136313735, 136313774-136313783, 136313819, 136313849, 136314909, 136314915, 136315006-136315014, 136315053-136315063, 136319569-136319570, 136319583, 136319620, 136319627, 136319665-136319671, 136319686, 136319701, 136319704-136319721, 136320477-136320494, 136320527-136320563, 136320634-136320646, 136320707, 136320718-136320725, 136321191-136321211, 136321261, 136321283-136321285, 136321318-136321337, 136321733-136321772, 136321783-136321786, 136321797-136321799, 136321811, 136321822-136321831, 136323032-136323044, 136323061-136323101, 136323118, 136323124-136323131, 136323136-136323138, 136323142-136323143, 136323168-136323216, 136324144, 136324172-136324178, 136324201-136324202, 136324216-136324219, 136324233-136324239, 136324263-136324302
776DBH90.757281553398064501854136501504, 136501651-136501652, 136501781, 136504988-136504994, 136505029-136505035, 136505114, 136507422-136507425, 136507574, 136508584-136508599, 136508627, 136513000-136513020, 136513033, 136513098-136513114, 136516758-136516842, 136516866-136516886, 136517368-136517369, 136517376, 136517380-136517381, 136517399-136517405, 136521665-136521699, 136521708-136521772, 136522192-136522195, 136522208-136522316, 136522330-136522351, 136523483, 136523518-136523533
777SARDH90.656510700036279472757136529060-136529061, 136529067, 136529075-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536691, 136536697-136536819, 136550315, 136550352, 136550393, 136550397-136550408, 136555510-136555513, 136555532-136555539, 136555545-136555546, 136555555, 136555575-136555624, 136555629, 136555647, 136559380-136559449, 136559485-136559493, 136561479-136561483, 136568038-136568071, 136568099-136568124, 136573409-136573427, 136573432, 136573439-136573442, 136573452, 136573476-136573477, 136573509-136573543, 136577765-136577780, 136577785-136577794, 136577806-136577812, 136577818, 136577823-136577831, 136578171-136578189, 136578200-136578235, 136582466, 136582570-136582577, 136584087-136584093, 136584152-136584164, 136599292-136599295
778COL5A190.837774152619188955517137534034-137534142, 137582758-137582788, 137582860, 137582868-137582875, 137582886, 137582893-137582894, 137582898-137582918, 137582921, 137591755-137591776, 137591833-137591835, 137591839-137591842, 137591845-137591854, 137591860, 137591872-137591879, 137591902-137591930, 137591955-137591968, 137593023-137593054, 137593115-137593124, 137593131-137593133, 137593154-137593160, 137593166-137593168, 137593178, 137619195, 137630324-137630330, 137630603-137630630, 137642388-137642389, 137642396-137642432, 137642441-137642462, 137642677-137642728, 137644435-137644491, 137645696-137645706, 137645715-137645749, 137646119-137646172, 137648614-137648645, 137648663-137648664, 137650105, 137650117-137650119, 137650122, 137650127, 137650130, 137653771, 137653803-137653807, 137655539-137655546, 137657537, 137657565, 137657573-137657579, 137658875, 137659156-137659170, 137660289-137660300, 137664636-137664647, 137666757-137666758, 137671948-137671952, 137674537-137674553, 137676879, 137676882-137676886, 137676892, 137676927-137676929, 137677841-137677862, 137688237-137688242, 137690304-137690307, 137694763-137694772, 137694775, 137694798-137694841, 137696884, 137696887-137696888, 137696900, 137697010-137697012, 137697040-137697056, 137698068-137698070, 137703361, 137705829-137705832, 137705867, 137708909-137708914, 137710694-137710697
779LHX390.598014888337474861209139089196, 139089204-139089206, 139089215-139089216, 139089267-139089273, 139089289, 139089304-139089305, 139089310-139089339, 139089347-139089394, 139089440-139089442, 139089454-139089462, 139089467-139089468, 139089472-139089477, 139089504-139089541, 139089578, 139090504-139090505, 139090508, 139090512-139090527, 139090588-139090629, 139090645-139090653, 139090754-139090759, 139090774-139090775, 139090778-139090864, 139090870-139090905, 139091528-139091529, 139091626-139091660, 139091726, 139094792-139094885
780INPP5E90.3762273901808812071935139324737, 139325455-139325458, 139325501-139325516, 139325538-139325547, 139326276-139326353, 139326361-139326417, 139326427-139326437, 139326931-139326960, 139326967, 139326988-139327038, 139327439, 139327445-139327453, 139327484-139327527, 139327607-139327731, 139328489-139328552, 139328579-139328586, 139329216-139329237, 139329241-139329244, 139329265-139329315, 139333060-139333080, 139333086-139333092, 139333127-139333206, 139333215-139333308, 139333322-139333362, 139333382-139333461, 139333469, 139333473, 139333478, 139333490, 139333493, 139333498-139333499, 139333503-139333505, 139333508-139333529, 139333535-139333563, 139333598-139333602, 139333613-139333686, 139333715-139333871
781NOTCH190.09076682316118969727668139390523-139390890, 139390899, 139390912-139391030, 139391044-139391054, 139391068-139391112, 139391124-139392010, 139393351-139393353, 139393381-139393382, 139393387-139393390, 139393415-139393448, 139393564-139393566, 139393574-139393628, 139393639-139393689, 139393693, 139395004-139395010, 139395032-139395076, 139395082-139395299, 139396200-139396274, 139396281-139396365, 139396453-139396474, 139396516-139396540, 139396724-139396774, 139396794-139396796, 139396814-139396940, 139397636, 139397673-139397766, 139399125-139399447, 139399454-139399496, 139399520-139399556, 139399762-139399889, 139399905-139400105, 139400126-139400333, 139400979-139401091, 139401168-139401216, 139401223, 139401232-139401233, 139401243-139401259, 139401281-139401377, 139401399-139401425, 139401768-139401806, 139401814-139401888, 139402407-139402487, 139402499, 139402515, 139402538-139402591, 139402684-139402769, 139402782-139402837, 139403322-139403368, 139403385-139403485, 139403490-139403523, 139404201-139404202, 139404229-139404291, 139404333-139404334, 139404349-139404356, 139404363-139404365, 139404382-139404411, 139405108-139405257, 139405604-139405651, 139405661, 139405673-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438542, 139438554, 139440178-139440238
782AGPAT290.19832735961768671837139568204-139568260, 139568283-139568305, 139568311-139568347, 139568366-139568379, 139569187-139569231, 139569241-139569243, 139569248, 139569258-139569259, 139571037-139571048, 139571054-139571072, 139571085-139571132, 139571413-139571475, 139571518-139571587, 139571875-139571913, 139571918-139571919, 139571928, 139571938-139571973, 139571976, 139571983, 139571990-139572004, 139581628-139581809
783SLC34A390.4411111111111110061800140126210, 140126609-140126613, 140127027-140127073, 140127132-140127136, 140127147, 140127339-140127350, 140127458-140127459, 140127477-140127480, 140127533-140127554, 140127675-140127685, 140127701-140127731, 140127746-140127747, 140127750, 140127764-140127768, 140127772, 140127809-140127811, 140128085, 140128097, 140128100, 140128103, 140128111, 140128120-140128154, 140128166-140128174, 140128315-140128393, 140128561-140128687, 140128696-140128728, 140128868, 140128871, 140128876-140128890, 140128894, 140128897-140128898, 140128909-140128977, 140128983-140128984, 140129070-140129076, 140129094-140129150, 140129156, 140129159-140129161, 140130404, 140130430-140130631, 140130649-140130711, 140130729-140130868
784EHMT190.7385168078008710193897140513481-140513501, 140605438, 140605441-140605478, 140611078-140611634, 140622892, 140622896-140622898, 140622955-140622969, 140669583, 140669640-140669644, 140669696-140669702, 140671269-140671276, 140671284, 140672361, 140672457-140672503, 140695394-140695398, 140695435-140695436, 140705913-140705922, 140705993-140705996, 140706001, 140706028-140706046, 140707470-140707473, 140707537, 140707554, 140707557-140707562, 140707850-140707852, 140707878, 140707881, 140707956-140707961, 140707973, 140707978-140707982, 140708883-140708926, 140708934-140708960, 140710471-140710482, 140711891-140711919, 140711945, 140712519, 140712523-140712524, 140728801-140728814, 140728952-140728958, 140728961-140728964, 140728967-140728976, 140729267-140729287, 140729305-140729317, 140729328-140729362, 140729383-140729405
785SHOXX0.55176336746303394879591633-591856, 591872-591909, 595353-595366, 595390-595400, 595407, 595426-595430, 595439, 595462-595561
786CSF2RAX0.5785440613026855013051401664-1401665, 1401669, 1404671-1404738, 1404751, 1404773, 1404777-1404789, 1404793-1404795, 1404799, 1407693-1407698, 1407736, 1409267-1409268, 1409335-1409340, 1409346-1409349, 1409364-1409365, 1413221-1413265, 1413272-1413354, 1414320-1414333, 1414344-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422857, 1422904-1422912, 1428351, 1428356
787MID1X0.999500998003991200410450568
788TRAPPC2X0.99527186761229242313734126-13734127
789CDKL5X0.9718719689621787309318668549-18668587, 18668643-18668683, 18668695-18668701
790RS1X0.99259259259259567518665410-18665413, 18665419
791PHKA2X0.9778856526429382370818911634-18911635, 18912351-18912352, 18912442-18912446, 18912476, 18912479, 18912497-18912512, 18912520, 18913256-18913295, 18915408, 18924901-18924905, 18942229, 18944595, 18949791-18949796
792SMSX0.970027247956433110121958943-21958965, 21958982-21958991
793ARXX0.85968028419183237168925022881-25022882, 25025356-25025358, 25025399, 25031266, 25031291, 25031432-25031434, 25031439-25031464, 25031472-25031511, 25031521, 25031534-25031598, 25031606, 25031641-25031642, 25031647-25031726, 25031767-25031769, 25031787-25031790, 25031825, 25031896-25031898
794GKX0.9915764139590914166230709311-30709316, 30714194-30714199, 30714203-30714204
795RPGRX0.77132119109569791345938144822, 38144952-38144958, 38144967, 38144980, 38145039-38145047, 38145190, 38145194, 38145197-38145209, 38145212-38145215, 38145219, 38145229-38145251, 38145267-38145876, 38145914-38145918, 38145922-38145925, 38145933-38145936, 38145974-38145981, 38146021-38146023, 38146088-38146089, 38146148-38146170, 38146187-38146209, 38146252-38146262, 38146453-38146458, 38146493-38146498, 38147120-38147128, 38147157-38147168, 38150212-38150214
796TSPAN7X0.98933333333333875038420871-38420878
797NYXX0.32918395573997970144641332757-41332825, 41332852-41332859, 41332869-41332964, 41333012-41333044, 41333075-41333158, 41333164-41333176, 41333183-41333252, 41333258-41333559, 41333575, 41333578-41333596, 41333614-41333615, 41333618-41333678, 41333708-41333720, 41333726-41333735, 41333742-41333761, 41333779-41333858, 41333894-41333913, 41333926-41333987, 41334013, 41334059-41334064
798CASKX0.997107736804058276641782204-41782208, 41782221-41782223
799MAOAX0.999368686868691158443571965
800SYN1X0.999055712936732211847466548-47466549
801FTSJ1X0.99494949494949599048341117-48341118, 48341170-48341172
802PORCNX0.9769119769119832138648370299, 48370751-48370761, 48370857-48370860, 48370895, 48370978-48370983, 48371007-48371008, 48371027, 48372641, 48372711-48372715
803CACNA1FX0.99949443882713593449067106-49067107, 49067111
804FGD1X0.99896049896053288654521749, 54521755, 54521776
805ARX0.9811798769453552276366765155-66765167, 66766357-66766395
806EDAX0.996598639455784117669247795-69247798
807MED12X0.999540863177233653470361098-70361100
808TAF1X0.9876803942273870568270586179-70586236, 70586248, 70586260-70586267, 70586305, 70586312, 70586316
809SLC16A2X0.9923995656894714184273641332, 73641391-73641403
810ATRXX0.999866292285061747976919012
811BRWD3X0.9981512294324310540980064945, 80064949-80064952, 80064964-80064968
812PCDH19X0.93103448275862228330699661937-99661938, 99662118, 99662127-99662132, 99662482, 99662489, 99662591-99662610, 99662912-99662918, 99662949-99662991, 99663036, 99663173-99663208, 99663382-99663423, 99663442-99663455, 99663515-99663528, 99663556-99663595
813TIMM8AX0.9659863945578210294100603521-100603522, 100603535-100603542
814CUL4BX0.9967177242888492742119694346-119694354
815XIAPX0.98728246318608191494123019579-123019593, 123020064-123020067
816OCRLX0.9974131559497472706128674433-128674439
817GPC3X0.96328169822146641743132795766, 133119302-133119307, 133119341-133119390, 133119434-133119436, 133119473-133119476
818HPRT1X0.9710806697108119657133594342-133594357, 133594366-133594368
819ZIC3X0.9943019943019981404136651217-136651224
820SOX3X0.896346010439971391341139585942-139585962, 139586139-139586152, 139586232-139586261, 139586433, 139586436-139586445, 139586457-139586503, 139586688-139586703
821AFF2X0.999491869918723936147582630, 147582633
822NSDHLX0.9937611408199671122152036200-152036206
823FAM58AX0.85442176870748107735152858055, 152858110, 152861528-152861532, 152864420-152864480, 152864483-152864521
824SLC6A8X0.666142557651996371908152954030-152954291, 152955872-152955899, 152956759-152956794, 152957430-152957462, 152957483-152957523, 152959384, 152959392, 152959633-152959662, 152959685-152959714, 152959823-152959857, 152959988-152959993, 152960003, 152960070-152960076, 152960174-152960239, 152960248-152960257, 152960293-152960319, 152960535, 152960542-152960544, 152960553-152960554, 152960598-152960599, 152960602-152960614, 152960658-152960659
825ABCD1X0.4463806970509412392238152990734-152990787, 152990793-152990913, 152990933-152991062, 152991065-152991085, 152991092-152991209, 152991221, 152991237-152991262, 152991278, 152991281-152991283, 152991289-152991300, 152991306-152991358, 152991372, 152991376-152991417, 152991428-152991440, 152991447, 152991466-152991514, 152991546-152991551, 152991566, 152991569, 152991574, 152991591-152991592, 152991598-152991599, 152991604-152991612, 152991620, 153001566, 153001591, 153001650-153001695, 153001799-153001875, 153001931-153001951, 153002611-153002614, 153002624, 153002643, 153002649-153002663, 153002675-153002678, 153002687-153002705, 153005546-153005575, 153005635-153005636, 153005652-153005653, 153005676-153005691, 153006078-153006096, 153006134-153006173, 153008467-153008486, 153008675-153008678, 153008703-153008734, 153008756-153008791, 153008943-153008949, 153008981-153009030, 153009041-153009160, 153009171, 153009178
826L1CAMX0.97880233174351803774153128278-153128279, 153128932, 153129448, 153129453-153129454, 153129464-153129467, 153130607, 153130955, 153132518-153132521, 153132828-153132835, 153135030, 153135033-153135039, 153135541-153135544, 153135554, 153135596-153135601, 153135862-153135879, 153136512, 153136521-153136536, 153136579, 153141284
827AVPR2X0.98835125448029131116153172050-153172057, 153172063-153172064, 153172084-153172086
828MECP2X0.96726786907148491497153297867-153297869, 153363061-153363091, 153363094-153363107, 153363122
829OPN1LWX0.94885844748858561095153409768-153409798, 153418521-153418544, 153421916
830OPN1MWX0.94794520547945571095153448170-153448207, 153455651-153455668, 153459003
831OPN1MWX0.94885844748858561095153485288-153485325, 153492769-153492786
832FLNAX0.4994964753272939767944153577217-153577249, 153577315-153577330, 153577340-153577341, 153577377-153577404, 153577733-153577763, 153577766-153577775, 153577785-153577834, 153577841-153577886, 153577916-153577933, 153578037-153578045, 153578107-153578125, 153578139, 153578152, 153578177-153578183, 153578212-153578229, 153578415-153578467, 153578477-153578479, 153578482-153578483, 153579277-153579282, 153579289-153579333, 153579952-153579959, 153579967-153579968, 153579972-153579975, 153579982-153579990, 153579996, 153580058, 153580062-153580064, 153580252, 153580257, 153580264, 153580300, 153580314-153580359, 153580370, 153580549-153580562, 153580589-153580592, 153580610-153580651, 153580680-153580686, 153580692, 153580695-153580703, 153580751, 153580800, 153580954, 153580978, 153580993, 153581007-153581043, 153581140-153581152, 153581159-153581205, 153581290-153581292, 153581369-153581418, 153581439-153581478, 153581516-153581531, 153581556-153581566, 153581668-153581758, 153581774-153581814, 153581922-153581944, 153581958-153581977, 153581979-153581982, 153582031, 153582036-153582037, 153582043-153582048, 153582283, 153582307-153582310, 153582313, 153582340-153582343, 153582349, 153582376, 153582400-153582411, 153582557-153582604, 153582614-153582628, 153582799-153582851, 153582984-153583002, 153583010-153583018, 153583029-153583033, 153583040-153583041, 153583061, 153583193-153583221, 153583229-153583257, 153583270, 153583299-153583357, 153583372-153583384, 153583420-153583434, 153585619-153585642, 153585802-153585849, 153585873-153585876, 153585882-153585883, 153585888-153585891, 153585901, 153585916-153585948, 153586567-153586576, 153586596-153586622, 153586635-153586639, 153586643, 153586648-153586661, 153586674-153586675, 153586678, 153586709-153586723, 153586821, 153586850, 153586863-153586891, 153586908-153586912, 153586915-153586924, 153587371-153587434, 153587467-153587480, 153587484-153587486, 153587497, 153587614-153587702, 153587709-153587773, 153587858, 153587884-153587888, 153587924-153588014, 153588100-153588139, 153588150-153588252, 153588261-153588273, 153588366-153588540, 153588547-153588693, 153588706, 153588718, 153588733, 153588766-153588789, 153588800-153588914, 153588925-153588955, 153589693-153589763, 153589776-153589777, 153589783-153589784, 153589788-153589789, 153589792-153589793, 153589796, 153589801, 153589815-153589855, 153589866, 153589880-153589901, 153589932-153589938, 153590072-153590101, 153590112-153590148, 153590347-153590364, 153590385-153590394, 153590400-153590413, 153590423-153590485, 153590509, 153590610-153590639, 153590697-153590700, 153590786-153590812, 153590822-153590824, 153590827, 153590839, 153590848-153590871, 153590888-153590909, 153590929-153590930, 153590934-153590946, 153591029-153591068, 153591074-153591085, 153591130-153591152, 153592447-153592458, 153592463, 153592473, 153592533, 153592627-153592640, 153592667, 153592690, 153592701, 153592902-153592949, 153592966-153592974, 153592979-153592983, 153593011-153593023, 153593048-153593049, 153593068, 153593224-153593232, 153593257, 153593312-153593325, 153593504-153593509, 153593512-153593514, 153593531-153593548, 153593607-153593627, 153593717-153593753, 153593773, 153593777-153593779, 153593824, 153593830, 153593848, 153594403-153594407, 153594413, 153594419, 153594447-153594473, 153594513, 153594517-153594523, 153594783-153594789, 153594802-153594838, 153594930-153594954, 153595169-153595218, 153595765-153595771, 153595783-153595830, 153595872-153595873, 153596013-153596045, 153596060-153596080, 153596093-153596106, 153596210-153596238, 153596268-153596289, 153596302-153596350, 153596427-153596455, 153599241-153599249, 153599262-153599292, 153599318-153599361, 153599373-153599440, 153599450-153599535, 153599541-153599603
833EMDX0.75816993464052185765153607864-153607910, 153607916-153607926, 153608051-153608154, 153608594-153608596, 153608669-153608679, 153609139-153609144, 153609432, 153609435, 153609508
834TAZX0.80861850443599151789153640181-153640196, 153640220-153640253, 153640267-153640283, 153640287-153640289, 153640444-153640485, 153640513-153640551
835GDI1X0.9940476190476281344153666885-153666890, 153666946-153666947
836G6PDX0.887057387057391851638153760234, 153760252, 153760284, 153760302, 153760610-153760651, 153760916, 153761163-153761185, 153761261-153761289, 153761321, 153761795, 153761806, 153761861, 153761865-153761878, 153761881-153761884, 153762344-153762348, 153762557-153762560, 153762568, 153762573-153762574, 153762674-153762681, 153762687-153762692, 153762702, 153764159, 153764167-153764169, 153775016, 153775054-153775085
837IKBKGX0.9993169398907111464153788750
838DKC1X0.9980582524271831545153991251, 154001429, 154001471
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
2CASP10-V410Ihet unknown0.047Dominant
protective
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview
2CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-N372Hhomozygous0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-V2466Ahomozygous0.977Dominant
benign
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-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
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
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
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
2NPC1-I858Vhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
2NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NPC1-H215Rhomozygous0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-I646Vhomozygous0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-R249Hhomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.25MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25MTRR-S284Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25MTRR-R442Chet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25MTRR-P477Rhet unknown0.023Unknown
not reviewed
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
1XDH-R1296Whet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.954 (probably damaging), Testable gene in GeneTests
1XDH-T1222Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1XDH-I703Vhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests
1XDH-I646Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PEX6-V882Ihet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-R336Hhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.214 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TXNDC3-I493Thomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
1CACNA1A-E992VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1A-E917DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CNGA1-S389Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
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-T2632Ihet unknownUnknown
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
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TSEN54-I137Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-V190Mhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1TSEN54-P483Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TRIM64-Q358Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C12orf60-K65RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C12orf60-N103KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C12orf60-M184ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CFH-T46Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1MTHFR-T653Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahomozygous0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM151A-G546Dhet unknown0.032Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.625 (possibly damaging)
1FAM151A-G526Ahet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HRNR-QSSG2794HSSAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-L2688Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-Q376Rhomozygous0.950Unknown
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
1SLCO1A2-E172Dhet unknown0.042Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
1SLCO1A2-I13Thet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KRT10-H487Yhomozygous0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-I101SFGGGSFGGGShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NOD2-V955Ihomozygous0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C12orf44-D85ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFYVE19-R48Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZFYVE26-T898Shomozygous0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
1APOE-R176Chet unknown0.068Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRB3-W64Rhomozygous0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-L329ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAM3A-R215GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1OPHN1-V39Ihomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
1DGKK-D1111Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.75DYX1C1-E417*het unknown0.201Unknown
pathogenic
Low clinical importance,
uncertain
One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
0.75DYX1C1-E191Ghet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.249 (possibly damaging)
0.75DYX1C1-V91Ihet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75PLEC-S2688Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75PLEC-G167Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75INPP5E-R93Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75INPP5E-S59Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BLMH-I443Vhet unknown0.285Unknown
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
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POLI-D17Delhomozygous0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5POLI-F532Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POLI-A731Thomozygous0.781Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-I293Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5INSC-D329Nhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5RASSF10-Q302Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSR1-P275Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CAPZA3-N167Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BTRC-A543Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NOL8-K165Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CHRNA10-T77Nhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5RNF213-S407Nhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF213-V1911Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF213-H2764Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALPK2-I2157Vhomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-R1884Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.699 (possibly damaging)
0.5ALPK2-H1767Yhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ALPK2-K1730Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ALPK2-Q1579Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.183 (benign)
0.5ALPK2-F1389Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-S884Lhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ALPK2-K2Thomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LMAN1-M410Lhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.5ST6GALNAC1-I424Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.221 (possibly damaging)
0.5ST6GALNAC1-V80Ahet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF21A-G614Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NELL1-R354Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ITGA2B-I874Shomozygous0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD300LG-R82Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ERBB2-I655Vhomozygous0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.5ERBB2-P1170Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
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
0.5KRTAP4-8-A168Thomozygous0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP4-8-C30*het unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KRTAP4-8-P27Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TBX4-G6Ahomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.5GGA3-E219Ghet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5USH1C-E819Dhomozygous0.517Unknown
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
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS5-T1098Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ARSG-T236Shet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5ARSG-W274Rhet unknown0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ARSG-R398Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNG1-G196Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A1020Phet unknown0.112Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-S497Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5RET-G691Shomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO3A-H56Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5CHAT-L243Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), 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
0.5PCDH15-G385Shomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EXOSC3-Y225Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5QPCT-H360Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5FAM154A-A422Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-K345Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-C313Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.087 (benign)
0.5FAM154A-P63Shomozygous0.819Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-K27Ehomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5YSK4-Y380Hhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
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
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPHP1-P39Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview
0.5MERTK-S118Nhomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBI-M71Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LYPD4-T184Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
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
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEACAM5-A46Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging)
0.5CEACAM5-K398Ehomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5LSR-W24*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LSR-S363Nhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LSR-R519RRhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LSR-E645Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5PAK4-R135Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.307 (possibly damaging)
0.5LIPA-T16Phomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CYP2A7-V479Ghet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-R311Chet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-S294Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP2A7-H274Rhet unknown0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5CYP2A7-D169Ehet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.46 (possibly damaging)
0.5CYP2A7-S153Ahet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-A131Shet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-L128Rhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-A117Vhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-C64Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-F61Ihet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CDHR1-H53Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5AK094748-Q220*het unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ITSN2-A1534Thet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ITSN2-R1337Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ITSN2-V291Ihet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPN1-H39Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPN1-G523Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIR3DL2-A108Thet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIR3DL2-V148Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIR3DL2-L354Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIR3DL2-T397Mhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.534 (possibly damaging)
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5USP54-G1514Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5LILRB3-R465Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TP53I13-P50Ahet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ALKBH8-D653Yhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
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
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBH-N201Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC16-E486Khet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5TXNDC16-A180Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5FANCM-V878Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R521Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KDELC2-P144Lhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ATM-P1054Rhet unknown0.016Unknown
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
0.5HEATR4-R191Chet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DISP2-P47Ahomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DISP2-C56Shomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5DISP2-Y375Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5SURF6-T311Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SURF6-T175Mhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SURF6-R163Whet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-T716Shet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-C1270Rhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MGA-P1523Ahet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5PFKM-R100Qhomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5FAT3-T3011Ihet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5FAT3-S3812Ghet unknown0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLH3-P844Lhomozygous0.443Unknown
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
0.5ESRRB-P386Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.069 (benign), Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACIN1-S647SRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S467Phet unknown0.448Unknown
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-I311Mhet unknown0.497Unknown
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)
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR133-S523Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GPR133-DLS870HLThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLEKHG7-D99Ghet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLEKHG7-M212Thet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5ANKRD52-S1061Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CLECL1-H7Qhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.944 (probably damaging)
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5WNK1-A141Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROBO3-A1062Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ROBO3-RS1367Delhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ALG9-V289Ihomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5OLFM4-R214*het unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5OLFM4-N307Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLAT-A43Vhomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-V318Ahomozygous0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-D451Nhomozygous0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL5A1-D192Nhet unknown0.015Unknown
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-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNFSF11-P36Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.976 (probably damaging), Testable gene in GeneTests
0.5PLA2G4E-R303Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4E-G38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TAF1C-R722Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-L397Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC50-D435Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-T544TKEThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A4025Thet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-V3898Mhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-R3480Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T3115Rhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2529Ehet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2522KAERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-T2520LERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-R2017Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5LDHD-H208Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5CNTNAP4-L251Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CNTNAP4-D1082Ehet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TUBB3-Y425Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUBB3-A428Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCN12-D125Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5CERCAM-C391Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NOTCH1-V1721Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5NOTCH1-K1717Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO15A-R538Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-S796Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SETX-S2612Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMT1-V305Ihet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR10V1-Q123Rhomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-V117Ahet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-A67Ehet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SSX1-F101Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CEP152-L914Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5FBN1-R1075Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CELP-K177Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CELP-Q180*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CELP-L184Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C2CD3-S1663Nhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5C2CD3-R1219Qhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTF1-A290Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5GIF-Q23Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH11-A1241Thomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC1-G671Vhet unknown0.044Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM5-M217Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACSM5-H360Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NCKAP5-P1260Qhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5NCKAP5-N1093Yhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.544 (possibly damaging)
0.5NCKAP5-I977Thomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NCKAP5-V937Ihet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5NCKAP5-V604Mhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5NCKAP5-S600Thet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.529 (possibly damaging)
0.5NCKAP5-H465Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5MANBA-T701Mhomozygous0.552Unknown
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
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-A142Thomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), 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
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A665Phet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-V887Ahet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-A807Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RGAG1-W1200Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRPF3-E1075Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCHCR1-R506Qhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCHCR1-W78*het unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5ALDH5A1-H180Yhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G217Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA4-N1868Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests
0.5ABCA4-R943Qhet unknown0.032Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests
0.5ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.433Unknown
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
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CARD6-S86Lhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CARD6-I194Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CARD6-F255Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CDH12-I284Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-N549Khet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS12-R386Qhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEIL3-R38Chet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.291 (possibly damaging)
0.5NEIL3-P117Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-Q172Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging)
0.5NEIL3-H286Rhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5NEIL3-P443Lhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BNIPL-R189Hhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ERBB2IP-H1045Yhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DMXL1-S851Nhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DMXL1-M1589Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ANXA9-M1Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ANXA9-D166Ghet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5FBN2-S2580Lhet unknown0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APC-V1822Dhomozygous0.826Unknown
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
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-I111Vhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S116Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-M236Vhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHA8-G45Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5EPHA8-P607Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPHA8-E612Qhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.08 (benign)
0.5ELN-A377Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5SEPN1-CE108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-CE108Yhet unknown0.788Unknown
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
0.5NPSR1-N107Ihet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NPSR1-C197Fhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NPSR1-S241Rhet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5SH2D4A-E209Ghet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5SH2D4A-E216Ghet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.931 (probably damaging)
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPL-Y263Hhomozygous0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DKC1-K505Delhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5FLNA-PV1441SEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNA-T429Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-A427Thet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-P1066Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TFEC-Q6Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging)
0.5NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GARS-P42Ahomozygous0.744Unknown
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-V1023Ahomozygous0.350Unknown
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-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-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5RARS2-V235Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBXL4-H35Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging)
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP8-R952Qhomozygous0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CUL7-A871Vhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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
0.5KLC4-R90Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-T2869Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC22A1-G401Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-F45Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLG-D472Nhomozygous0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARK2-V380Lhomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TESK2-R18Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-V497Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R843Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LIMK2-R213Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PIGT-D257Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5WFDC3-R63Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFDC3-H36Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.207 (possibly damaging)
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-K1754Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGXT-P11Lhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL4-L507Rhomozygous0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1429Chet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PCNT-A2903Thet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.085 (benign), Testable gene in GeneTests
0.5USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
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-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB3-T298Phet unknown0.643Unknown
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
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5ITGB2-L84Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGB2-D77Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSCN-FL12SRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-Q502Rhet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-F2116Lhet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-G3780Rhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OBSCN-C4450Rhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-S4642Chet unknown0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5COL4A3-G43Rhomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-P833Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-V512Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.445 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-D12499Nhet 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
0.5ITGA6-A380Thomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ECHDC3-A69Thomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-A151Thomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-D162Nhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DYNC1I2-R613Whet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DYNC1I2-R616*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DNAH7-L3319Phomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-I2809Vhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-I1020Thet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-K825Ehet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.208 (possibly damaging)
0.5DNAH7-K7Ihet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging)
0.5HSPD1-G563Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIPA1L2-R1708Qhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5COL4A4-S1400Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-G150Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBEAL1-I2330Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-T2492Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5IDI1-C13Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCT8L2-W365*het unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CCT8L2-W320Rhomozygous0.935Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-T151Ihet unknown0.083Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.846 (possibly damaging)
0.5GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5ISX-S28Ghet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-R83Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ISX-T182Mhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5DCBLD2-I144Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5LARS2-H324Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARL13B-T348Shet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5MR1-R31Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5MR1-H39Rhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.922 (probably damaging)
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ10-R18Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.5CDS1-L99Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR1-S602Ihomozygous0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR1-N248Shomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5BST1-R145Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5EVC-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-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L1800Shomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-T1354Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-V1064Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTC-I182Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
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
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-DE1328GRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375F13A1-A603Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LAMA2-S541Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LAMA2-R619Hhet unknown0.272Unknown
not reviewed
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
0.375COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL17A1-SY426THhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEKHG6-A35Thet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PLEKHG6-N351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KLHDC9-A130Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KLHDC9-S171Rhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCNN1A-T722Ahet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCNN1A-R240Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THBS3-T312Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25THBS3-C289Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25THBS3-A118Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), 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
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZFYVE27-G138Vhomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZFYVE27-*412Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.342Unknown
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
0.25NOTCH2-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
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25BMPR1A-P2Thet unknown0.393Unknown
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)
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25DNAH14-T43Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-F405Lhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-L828Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1010Rhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R1011Qhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N1099Yhet unknown0.804Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-M1110Ihomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-Y1392Dhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25DNAH14-K1925Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH14-G2046Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-N2435Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N2991Dhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N3969Khet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-L4096Phet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-F4244Chet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NRAP-R1566Chomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-L1531Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.25NRAP-N519Ihet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.974 (probably damaging)
0.25NRAP-S490Lhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.25NRAP-D484Nhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.25NRAP-Q360Rhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A282Thet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-V208Ahomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-K272Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC16A2-S107Phet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-M400Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25VWA5B2-P200Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWA5B2-L1235Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EPHB3-Q196Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPHB3-V851Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HADH-L86Phet unknown0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC2A9-P350Lhomozygous0.378Unknown
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-G25Rhomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25WFS1-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
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TG-R1999Whomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.614Unknown
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
0.25ZNF142-L956Hhet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF142-S751Ghet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF142-A686Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF142-A541Shet unknown0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-T2284Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A3-A435Ehet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-C99Ghet unknown0.079Unknown
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
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-Q620Hhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOPEY2-D1114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DOPEY2-C1118Ghomozygous0.901Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANK2-V2369Ahet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARID1B-P116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARID1B-SKP122RKAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARID1B-A412Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
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
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LRGUK-C264Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRGUK-D302Yhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.872 (probably damaging)
0.25LRGUK-A661Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-M6Ahet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-I10Shet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A48Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T57Mhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T75Khet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-V77Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-V82Fhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T98Ihet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S157Ahet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A190Shet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S196Phet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T270Shet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-I274Mhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T279Ahet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-Y281Hhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-N328Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC3A-L334Thet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-E602Ahet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A655Thet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC3A-H752Nhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYOT-K74Qhomozygous0.985Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYOT-I112Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-Q256Rhet unknown0.221Unknown
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-D89Vhet 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-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-F41Yhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-M24Ihet unknown0.197Unknown
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
0.25ZBTB22-T310Ahomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZBTB22-A274Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T22Ihet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PLA2R1-G1106Shomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLA2R1-L666Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLA2R1-I414Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLA2R1-R404Hhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PLA2R1-H300Dhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLA2R1-M292Vhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.291 (possibly damaging)
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKMYT1-E15Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKMYT1-M12Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINF2-D455Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SERPINF2-DK467GRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25CNGB1-L745Ihet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGB1-P544Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGB1-R100Hhet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT6C-S143Nhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT5-G543Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-S528Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25KRT83-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
0.25KRT83-R149Chet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CELA1-Q243Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-R44Whet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-Q10Hhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.463 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA7-A1072Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA7-R655Hhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25CTAGE10P-Y454Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CTAGE10P-S683NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTAGE10P-AT685VShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYBBP1A-A594Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYBBP1A-A95Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NUDT19-A136Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NUDT19-R142Qhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25TRPM6-V1393Ihet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25BC011779-Q186*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BC011779-N125Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC011779-S120Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC011779-L30PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MASP2-D371Yhet unknown0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MASP2-Y134Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PRX-I921Mhet unknown0.364Unknown
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
0.25TEX14-E1234Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TEX14-G1082Dhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TEX14-N780Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-V671Ghet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25FSHR-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
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
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
0.25BAAT-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
0.25GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SCN4A-S524Ghet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI2-V495Ihet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI2-A558Thet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPR108-M374Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR108-Q36Rhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0ESCO2-Q38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,717,425,734 bases (95.9% of callable positions, 89.9% of total positions)

Coding region coverage: 31,007,780 bases (93.4% of all genes, 94.4% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in