huD2B804 - GET-Evidence variant report

Variant report for huD2B804

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1GJB2-V37IModerateLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00148726This recessive variant is associated with mild hearing loss in Asians.1
2MEFV-E148QModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0120929Some reports believe this cause Familial Mediterranean Fever in a recessive manner with reduced penetrance (i.e. not all get the disease). However, these reports lack strong statistical significance; other studies argue the variant is not associated with the disease.1
3COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
4MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
5WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
6H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
7PRODH-L289MLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.00436884One report suggested that this rare variant (0.9% allele frequency) could be associated with hyperprolinemia and, through this, associated with increased susceptibility to schizophrenia and/or schizoaffective disorder. However, this finding completely lacked statistical significance, and both reported cases were also associated with other potentially causal variants. A later functional study found only a mild functional effect on enzyme activity (78-90% of wildtype activity).1
8TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
9SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
10BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
11ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
12NPC1-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
13CFH-V62ILowLikelyLikely protective

Complex/Other, Homozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
14KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
15OCA2-H615RLowLikelyLikely benign

Complex/Other, Homozygous
0.000650678Associated with lighter skin pigmentation in East Asian populations.1
16NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
17PMS2-P470SLowLikelyLikely benign

Unknown, Homozygous
0.374884Benign, common variant.1
18SLC45A2-E272KLowLikelyLikely benign

Unknown, Heterozygous
0.0290946Pigmentation allele for black hair in Caucasian population.1
19LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Homozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
20XPC-L16VLowUncertainUncertain benign

Unknown, Heterozygous
0.00466531Reported as a nonpathogenic polymorphism.1
21APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
22ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
23PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
24ABCC11-G180RLowUncertainUncertain benign

Unknown, Homozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
25THBD-A473VLowUncertainUncertain benign

Unknown, Heterozygous
0.140387While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.1
26RP1-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
27FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
28TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
29PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
30EDAR-V370ALowUncertainUncertain benign

Unknown, Homozygous
0.0105968Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31750789 / 33282720 = 95.40%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.98566308243728886138955553-955602, 955610-955614, 955658-955677, 983672-983677, 984296-984302
2GABRD10.949963208241356813591950863-1950930
3PEX1010.9979612640163129812343863, 2343866
4NPHP410.9581873394066817942816038330-6038473, 6046215-6046221, 6046233, 6046243-6046268, 6046328
5ESPN10.7758284600389957525656485016-6485017, 6485027-6485071, 6485080-6485085, 6485108-6485131, 6485134, 6485138-6485148, 6485158-6485161, 6485207-6485208, 6485212-6485213, 6485219-6485230, 6485242, 6485269-6485270, 6485274-6485283, 6485285-6485309, 6488304, 6488322, 6488325, 6488333, 6488381, 6488389, 6488429, 6488466-6488467, 6500413-6500441, 6500447-6500489, 6500712, 6500741, 6500768, 6500822-6500855, 6500864-6500868, 6500994-6500995, 6501058-6501106, 6504541-6504547, 6504575-6504594, 6504666-6504672, 6504736-6504742, 6505729, 6505735, 6505817, 6505845-6505860, 6505900, 6505917, 6508701-6508733, 6508831, 6508854, 6508885, 6508957-6508958, 6508961-6508964, 6508976, 6508979, 6508985-6508986, 6509016-6509023, 6509057, 6509063, 6509075, 6509080, 6509083, 6509100-6509106, 6509139-6509151, 6511676-6511709, 6511751-6511757, 6511907-6511942, 6511969-6512000, 6512024, 6512109, 6512130, 6512151
6PLEKHG510.989338350580123431896529179-6529212
7KIF1B10.992283079239641531310292392, 10292421, 10292436, 10292444-10292447, 10292450, 10292463, 10292473-10292492, 10327569-10327577, 10357025-10357027
8PEX1410.9850088183421517113410535024-10535033, 10535053-10535059
9TARDBP10.90441767068273119124511082226-11082237, 11082272-11082278, 11082322-11082362, 11082396-11082402, 11082519-11082538, 11082581-11082605, 11082660-11082666
10MASP210.997088791848626206111087141, 11087696, 11090894, 11090897, 11094892-11094893
11PLOD110.9670329670329772218411994846-11994892, 12030749, 12030752-12030764, 12030785, 12030790-12030799
12MFN210.980650835532144227412058874-12058887, 12059114-12059120, 12061458-12061470, 12061574-12061577, 12062063-12062065, 12062121-12062123
13CLCNKA10.9932170542635714206416354391-16354397, 16360141-16360147
14CLCNKB10.9597868217054383206416373030-16373050, 16373079-16373085, 16373118-16373148, 16375721, 16378714-16378728, 16378800, 16383399-16383405
15PINK110.84421534936999272174620960045-20960047, 20960051, 20960070-20960234, 20960244-20960287, 20960307-20960316, 20960349-20960350, 20960353, 20960358-20960379, 20960393-20960416
16HSPG210.99521857923497631317622263648-22263710
17WNT410.9441287878787959105622469347-22469367, 22469378-22469415
18FUCA110.9885795860099916140124181022, 24181029-24181033, 24194611-24194612, 24194745-24194752
19SEPN110.89028776978417183166826126722-26126904
20YARS10.997479521109014158733252047, 33256823-33256825
21COL9A210.996135265700488207040782857-40782861, 40782866-40782868
22KCNQ410.999042145593872208841249875-41249876
23LEPRE110.998190863862514221143232395-43232398
24EIF2B310.995584988962476135945444044, 45446708-45446711, 45446794
25STIL10.9937936384794424386747725989, 47726033, 47726053, 47726057, 47728598, 47728674-47728675, 47746023-47746025, 47746165, 47746231, 47753223-47753224, 47753324, 47753327, 47759157, 47765676, 47765824, 47767957-47767961
26DHCR2410.9845261121856924155155340777, 55341667-55341671, 55341683, 55341686, 55341690, 55352593-55352607
27ALG610.996732026143795153063836691-63836694, 63836716
28LEPR10.9754145225843386349866062156-66062180, 66064458-66064460, 66067127, 66067308-66067311, 66067338, 66067345-66067352, 66067527, 66074492-66074494, 66083697, 66083739-66083765, 66083818-66083829
29ACADM10.9804381846635425127876205741-76205765
30GLMN10.999439775910361178592730146
31DPYD10.96361273554256112307898039333, 98039366, 98058794, 98144717, 98165078, 98187066-98187092, 98187111-98187139, 98187152, 98187164-98187212, 98348927
32AGL10.99717329854316134599100340751-100340752, 100340764-100340765, 100340793-100340795, 100340965, 100342037, 100342070, 100357248-100357249, 100357267
33DBT10.95031055900621721449100661813-100661814, 100672012, 100672049-100672060, 100672180-100672182, 100672192, 100680466, 100681589-100681595, 100696327-100696371
34COL11A110.9998167491295615457103405885
35GNAT210.9990610328638511065110148974
36GSTM110.83257229832572110657110230500-110230531, 110230810, 110230830-110230845, 110230855-110230867, 110231302, 110231670-110231672, 110231700-110231727, 110232907-110232913, 110233119, 110233138, 110235885-110235891
37AMPD110.814171122994654172244115215738, 115215743-115215765, 115215783-115215795, 115215807-115215844, 115215859-115215893, 115216266-115216268, 115216310, 115216335-115216370, 115216549-115216593, 115216599-115216632, 115216647-115216695, 115217435, 115217438-115217444, 115217483-115217486, 115218206, 115218210, 115218219-115218222, 115218263-115218268, 115218275-115218281, 115218498-115218499, 115218526, 115218534-115218549, 115218576, 115220022-115220023, 115220558, 115220616, 115220655, 115220962-115221009, 115221043, 115221133-115221148, 115222893-115222899, 115222964, 115222973-115222974, 115222982-115222989
38VANGL110.911746031746031391575116194058-116194059, 116194079, 116194082-116194090, 116202288-116202293, 116226629-116226650, 116226659, 116227931-116227965, 116227985-116228018, 116228052, 116228064-116228076, 116228109-116228120, 116228146-116228148
39HSD3B210.765862377122432621119119962069-119962108, 119962158-119962169, 119964458-119964501, 119964544-119964551, 119964572-119964605, 119964670-119964688, 119964760, 119964766-119964772, 119964886, 119964930-119964962, 119965014-119965020, 119965124-119965153, 119965218-119965243
40NOTCH210.977211434735711697416120539665-120539714, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611964, 120612006
41FLG10.46709338585262649412186152275602-152275609, 152275773, 152275797, 152275815-152275858, 152275892-152275911, 152276042, 152276045, 152276049-152276063, 152276067-152276068, 152276114, 152276129-152276172, 152276193-152276219, 152276251, 152276261-152276265, 152276279-152276324, 152276338-152276415, 152276441-152276464, 152276487-152276502, 152276509-152276674, 152276681-152276702, 152276714-152276747, 152276755-152276808, 152276820-152276915, 152276934-152276941, 152276949, 152276957-152276959, 152276967, 152276977, 152276990-152277063, 152277071-152277174, 152277205, 152277208-152277213, 152277220-152277221, 152277231, 152277244-152277292, 152277305-152277321, 152277342-152277385, 152277393-152277411, 152277423-152277445, 152277467-152277473, 152277508-152277594, 152277614-152277646, 152277665-152277721, 152277739-152277772, 152277787-152277859, 152277868-152277875, 152277894-152277919, 152277948-152277954, 152277963-152278005, 152278024-152278055, 152278076-152278093, 152278102, 152278105, 152278126, 152278160, 152278182, 152278207-152278250, 152278260-152278277, 152278289-152278329, 152278338-152278362, 152278369, 152278385-152278442, 152278458-152278507, 152278523-152278558, 152278567-152278598, 152278615, 152278637-152278692, 152278738-152278773, 152278811-152278859, 152278872-152278884, 152278904-152278926, 152278938-152278986, 152278999-152279022, 152279048-152279061, 152279129-152279163, 152279198-152279222, 152279232-152279249, 152279261-152279293, 152279314-152279331, 152279334, 152279338, 152279357-152279447, 152279459-152279502, 152279524-152279530, 152279539-152279590, 152279599-152279679, 152279704-152279747, 152279797-152279805, 152279820-152279855, 152279889-152279898, 152279905-152279942, 152279949-152280056, 152280062-152280070, 152280074, 152280083, 152280104, 152280135-152280173, 152280195-152280198, 152280203, 152280230-152280309, 152280344-152280372, 152280378, 152280386, 152280402-152280408, 152280447-152280495, 152280525-152280557, 152280570-152280630, 152280642-152280652, 152280668-152280702, 152280713-152280762, 152280773-152280774, 152280788, 152280817-152280824, 152280852-152280885, 152280897-152280933, 152280960-152280975, 152280992-152281020, 152281035-152281061, 152281110-152281116, 152281198-152281237, 152281269-152281309, 152281316-152281342, 152281349-152281365, 152281437-152281482, 152281499-152281537, 152281559-152281608, 152281621-152281649, 152281668, 152281683-152281721, 152281767-152281807, 152281828-152281860, 152281874-152281880, 152281890-152281995, 152282017-152282134, 152282142-152282168, 152282174-152282218, 152282227-152282252, 152282267, 152282279-152282304, 152282311, 152282367-152282396, 152282402-152282424, 152282454-152282483, 152282504-152282530, 152282559-152282580, 152282604, 152282608, 152282617-152282630, 152282641-152282688, 152282750-152282776, 152282787-152282817, 152282826-152282859, 152282867-152282891, 152282904-152282908, 152282917-152282919, 152282931, 152282935, 152282938-152282946, 152282966-152282967, 152282980-152283050, 152283057-152283076, 152283086-152283120, 152283145-152283200, 152283208-152283248, 152283268-152283270, 152283283, 152283330-152283370, 152283407-152283438, 152283470, 152283489-152283536, 152283546-152283573, 152283641-152283664, 152283702, 152283722-152283767, 152283801, 152283843-152283900, 152283915, 152283925-152283999, 152284007-152284035, 152284045-152284082, 152284102-152284117, 152284132-152284192, 152284202-152284217, 152284228-152284266, 152284274-152284287, 152284301-152284337, 152284364-152284385, 152284420-152284453, 152284462-152284499, 152284506-152284552, 152284563, 152284587-152284610, 152284626-152284662, 152284675-152284719, 152284755-152284776, 152284787-152284817, 152284834-152284840, 152284850-152284899, 152284912-152284970, 152284992-152285074, 152285096-152285102, 152285119, 152285123, 152285141, 152285152-152285156, 152285177-152285199, 152285213-152285217, 152285225-152285229, 152285249-152285283, 152285291-152285343, 152285355-152285397, 152285453, 152285463, 152285466, 152285477, 152285480, 152285496, 152285513-152285523, 152285540-152285598, 152285661, 152285675-152285695, 152285708-152285756, 152285771, 152285826-152285858, 152285877, 152285920-152286074, 152286088, 152286111-152286153, 152286180-152286222, 152286270-152286279, 152286299-152286332, 152286358-152286391, 152286442-152286469, 152286513-152286530, 152286556-152286558, 152286598-152286603, 152286606-152286618, 152286798-152286813, 152286944-152286951, 152286986, 152287178-152287181, 152287832, 152287835, 152287862
42TPM310.9568764568764637858154142907-154142913, 154143180-154143181, 154143924-154143950, 154164445
43HAX110.8988095238095285840154245239-154245252, 154245812-154245834, 154245906-154245910, 154245920-154245922, 154246251, 154246332, 154246348, 154246378-154246404, 154246409, 154246425, 154247880, 154247949-154247955
44GBA10.96337678460583591611155204994, 155205043, 155205511-155205533, 155206036-155206039, 155207980-155208009
45PPOX10.914225941422591231434161138364-161138366, 161138922-161138931, 161139460-161139489, 161139696-161139709, 161139762-161139791, 161140199-161140212, 161140251, 161140414, 161140464, 161140543, 161140725-161140731, 161140868-161140873, 161140930, 161140933-161140934, 161140938-161140939
46NDUFS210.98994252873563141392161176324-161176330, 161183513-161183519
47DDR210.9996105919003112568162735799
48F510.9998501872659216675169551698
49DARS210.9989680082559321938173794420, 173826843
50NPHS210.96788194444444371152179526340-179526343, 179544734, 179544742-179544748, 179544784-179544791, 179544893-179544895, 179544951-179544964
51LAMC210.9997208263539913582183155518
52HMCN110.9871658386562621716908185834883-185834884, 185834887, 185892745, 185897751-185897754, 185902800-185902801, 185902808, 185931773-185931774, 185932927, 185932965-185933027, 185935015, 185985115, 185987438-185987445, 186026474, 186031646-186031647, 186036993-186037009, 186038906, 186045751, 186045754, 186047261-186047262, 186047318, 186055539, 186056730-186056743, 186057317-186057325, 186057821-186057829, 186062283-186062289, 186062341-186062348, 186062650-186062664, 186062684-186062688, 186062734, 186062776-186062801, 186064453-186064460, 186141181
53CDC7310.98496240601504241596193091352, 193091406-193091410, 193094294-193094297, 193094300-193094313
54CFH10.98538961038961543696196659345, 196682978, 196683015-196683018, 196684746, 196684813, 196684832, 196684887-196684888, 196716353-196716395
55CFHR110.997985901309162993196801042, 196801078
56CFHR510.934502923976611121710196953163, 196953166, 196967287, 196967330-196967351, 196967358-196967361, 196973861, 196973921-196973936, 196977617-196977620, 196977636-196977650, 196977723-196977725, 196977752-196977755, 196977766-196977779, 196977788-196977813
57ASPM10.9865823270078614010434197057531, 197069590, 197069917, 197069922, 197069931, 197070186-197070187, 197070434-197070440, 197070776-197070777, 197070985, 197071947, 197072929, 197073042, 197073402, 197073412, 197073913-197073933, 197073977, 197086971-197086983, 197086998, 197091327, 197091330, 197101453, 197111469, 197111490-197111494, 197111753-197111754, 197111988, 197112267, 197112723-197112767, 197112835, 197115379-197115389, 197115395-197115404, 197115408, 197115494
58CRB110.9990523572613144221197237586, 197316503-197316504, 197316515
59CHIT110.97787294789436311401203186093, 203186948-203186977
60CD4610.98083333333333231200207925567, 207925626-207925628, 207925632-207925633, 207930450-207930463, 207933000, 207934683, 207934748
61IRF610.96723646723647461404209965730-209965748, 209969770-209969782, 209969809-209969815, 209974635-209974641
62USH2A10.9772567108719335515609215847793, 215848093, 215848406-215848409, 215853565, 215853650, 215853669, 215914758, 215916628-215916631, 215931937-215931938, 215953194-215953199, 215953206-215953212, 215953226, 215953313-215953321, 215953329, 215955389-215955392, 215955424-215955432, 215955462-215955464, 215955469, 215955514-215955529, 215956135-215956144, 215956147-215956151, 215956205-215956214, 215956267-215956268, 215956276-215956277, 215960025-215960026, 215960029-215960034, 215960051-215960059, 215960091-215960094, 215960167, 215963440-215963453, 216251431-216251432, 216251464-216251495, 216251667, 216256906-216256910, 216256927-216256928, 216258100-216258119, 216260133-216260162, 216262359-216262373, 216262442-216262473, 216262481, 216270488, 216348595, 216348598-216348602, 216348657, 216348671, 216348686, 216348704-216348729, 216348764, 216363625-216363651, 216363675, 216371912-216371920, 216373083, 216373089, 216380712
63LBR10.99296536796537131848225591032, 225591126, 225591130-225591133, 225592158-225592164
64ADCK310.9979423868312841944227152862, 227152865, 227153421-227153422
65GJC210.9977272727272731320228345913-228345915
66ACTA110.47001763668436011134229567246-229567259, 229567269-229567328, 229567380-229567389, 229567468-229567472, 229567480, 229567487-229567504, 229567517, 229567526, 229567553-229567557, 229567567-229567614, 229567628-229567649, 229567741-229567742, 229567753-229567837, 229567855-229567898, 229567918-229567932, 229568017-229568051, 229568057-229568178, 229568317-229568345, 229568379-229568386, 229568425-229568473, 229568742-229568745, 229568748, 229568760-229568764, 229568785-229568801
67LYST10.9244257408381686211406235826254-235826274, 235826341-235826360, 235827319-235827342, 235827783-235827854, 235827860-235827861, 235827864-235827865, 235827869, 235827896-235827921, 235840825, 235840839, 235866111-235866115, 235866174, 235866247-235866255, 235872443, 235872447-235872450, 235872457-235872555, 235872569-235872574, 235872604-235872608, 235875357-235875369, 235875385, 235875389, 235875416-235875444, 235875447, 235875465-235875497, 235878563-235878611, 235878641-235878657, 235880012-235880078, 235883967, 235883982-235884040, 235884046-235884082, 235884096-235884133, 235884143, 235884166-235884205, 235887330, 235887360-235887389, 235887447-235887480, 235891392-235891431, 235892896-235892932, 235894186-235894194, 235894367-235894373, 235894460, 235897191, 235897784, 235907279-235907285, 235967830, 235967835, 235971787, 235973459, 235973599-235973601
68ACTN210.98696461824953352685236850018-236850052
69RYR210.994699409554487914904237205835-237205838, 237205843, 237433797-237433831, 237433857-237433865, 237433887-237433916
70FH10.921069797782131211533241661169-241661172, 241661178, 241661195, 241667450-241667456, 241667515-241667516, 241669362, 241671931, 241672041-241672048, 241672051, 241672054-241672057, 241672060, 241672067, 241675290-241675307, 241675357, 241675413-241675428, 241676920-241676921, 241676930-241676946, 241680485, 241682891-241682892, 241682899-241682926, 241682973, 241682989, 241682992, 241682999
71NET1100.907314349525416617915454656-5454783, 5468677, 5471133-5471167, 5495296, 5498551
72OPTN100.9907727797001216173413151235-13151250
73PHYH100.998033431661752101713325834, 13330441
74DCLRE1C100.9995189995191207914950594
75CUBN100.98905445180281191087216893264-16893272, 16893400, 16970179-16970185, 17083032-17083043, 17083215, 17085859-17085873, 17085879, 17085886-17085894, 17085900-17085901, 17085904, 17085974, 17087952-17087956, 17087963-17087965, 17088001-17088007, 17088047-17088058, 17089473, 17089478, 17089484-17089486, 17089494, 17089497, 17089547-17089566, 17089571-17089574, 17146568-17146569
76PTF1A100.8642350557244213498723481516-23481518, 23481521, 23481569, 23481663-23481674, 23481690, 23481700-23481705, 23481740, 23481753, 23481759-23481782, 23481837-23481876, 23481910-23481917, 23481938, 23481941, 23482135-23482168
77MYO3A100.89878375592661491485126241041, 26241048, 26241051-26241058, 26243864-26243897, 26285419-26285523, 26286088-26286178, 26305759-26305782, 26305811, 26310484, 26310515, 26310522-26310547, 26312956-26312957, 26312990-26313016, 26315313-26315326, 26315335, 26315401, 26315410-26315417, 26315420-26315435, 26355976-26355978, 26355992, 26357697-26357699, 26357722-26357762, 26359060-26359074, 26359077, 26359080, 26359097-26359144, 26359251, 26359266-26359268, 26359294-26359302, 26432381, 26434442, 26436441
78MASTL100.95980280621919106263727454002, 27456075-27456106, 27456125-27456134, 27456173-27456184, 27458898, 27459096-27459142, 27459265, 27462065, 27462068
79PCDH15100.97656647987774138588955582225, 55582442-55582446, 55587198-55587201, 55587207-55587208, 55591193-55591199, 55600138, 55779963-55779995, 55780002, 55780092-55780099, 55780172-55780176, 55782676, 55782719-55782727, 55782744-55782775, 55782793-55782797, 55782823-55782831, 55826598-55826604, 55826638-55826639, 55839104-55839106, 55849791-55849792, 56287637
80EGR2100.99790356394133143164573471-64573473
81KIAA1279100.9619506966773871186670760235-70760278, 70765506-70765512, 70765618-70765624, 70770698-70770710
82PRF1100.999400479616311166872358257
83SLC29A3100.999299719887961142873082563
84MRPS16100.98067632850242841475010684, 75011683, 75011686, 75011689-75011693
85VCL100.998825256975044340575857015-75857016, 75864937, 75873972
86BMPR1A100.9843652282676725159988683146, 88683416-88683439
87GLUD1100.89028026237329184167788813099-88813110, 88817538, 88820506, 88820726-88820737, 88827820-88827821, 88827863-88827869, 88827907, 88827910, 88834347, 88834363-88834371, 88835725-88835738, 88836362-88836400, 88854150, 88854344-88854358, 88854382, 88854390-88854398, 88854411-88854441, 88854463, 88854466-88854468, 88854481-88854499, 88854521, 88854524-88854526
88LIPA100.999166666666671120091007360
89PLCE1100.999710522506882690996005980, 96073099
90COX15100.846715328467151891233101474358, 101474424, 101474427, 101474435-101474453, 101476109-101476136, 101476180-101476181, 101476187-101476189, 101476217-101476218, 101478119-101478130, 101480764, 101480774-101480785, 101486739-101486740, 101486792-101486817, 101486856-101486861, 101486877, 101486900-101486911, 101487312, 101489319, 101489348, 101489405-101489425, 101489428-101489429, 101489452-101489463, 101489467-101489469, 101489477, 101491741, 101491750, 101491761-101491762, 101491765-101491766, 101491769-101491770, 101491797-101491806
91SCD100.9990740740740711080102116311
92HPS6100.948024054982821212328103825343-103825398, 103825443-103825446, 103825452-103825455, 103825469-103825472, 103825492-103825508, 103825575-103825576, 103825623-103825626, 103825674, 103825741, 103825812, 103825850-103825868, 103826241-103826247, 103826399
93BAG3100.9982638888888931728121411330-121411332
94FGFR2100.96670726755989822463123244960-123244961, 123245024, 123246881-123246884, 123246936, 123256073, 123256093, 123256097-123256098, 123256107-123256122, 123256166, 123256199-123256207, 123256214-123256236, 123258022-123258031, 123260356, 123260367, 123260372, 123260418-123260425
95HTRA1100.841995841995842281443124221185-124221268, 124221277, 124221290-124221402, 124221451, 124221460, 124221510, 124221516, 124221590-124221615
96OAT100.93257575757576891320126097111-126097152, 126097173-126097186, 126097199-126097206, 126097312-126097318, 126097532-126097534, 126100640-126100654
97TALDO1110.864891518737671371014747482-747503, 747509-747578, 763344-763371, 763409, 763412, 763420-763433, 763436
98PNPLA2110.99669966996751515819843, 823732-823735
99CTSD110.8442292171105719312391774783, 1774798, 1774809, 1775233-1775275, 1778587-1778603, 1778708-1778711, 1778762, 1780245, 1780746-1780765, 1780805-1780840, 1785022-1785089
100TNNT3110.9897039897039987771944112, 1959706-1959712
101IGF2110.313642756680734887112154217-2154281, 2154292, 2154300-2154444, 2154768-2154836, 2154844-2154895, 2156640, 2156648, 2156651-2156661, 2156670-2156672, 2156719, 2156722, 2156740-2156742, 2161385-2161427, 2161435-2161526
102TH110.9085714285714314415752186918, 2187274-2187288, 2187719-2187779, 2187884-2187890, 2187934-2187936, 2188134-2188181, 2188686-2188688, 2189379-2189381, 2190951, 2191940, 2191943
103KCNQ1110.983259478089613420312466362, 2466365-2466367, 2466372-2466383, 2466459, 2466526-2466539, 2466545-2466546, 2466670
104CDKN1C110.90956887486856869512905906, 2905948-2905955, 2905966-2905977, 2906091-2906096, 2906109-2906141, 2906172, 2906335, 2906343-2906351, 2906380, 2906385, 2906453, 2906458-2906469
105HBB110.9977477477477514445248243
106SMPD1110.99683544303797618966411931-6411936
107SBF2110.984324324324328755509838409-9838412, 9838434, 9838459, 9838559-9838560, 10064392-10064403, 10064483-10064497, 10215450, 10215483, 10315567-10315616
108HPS5110.9814159292035463339018308217, 18309096, 18313179-18313225, 18317570, 18317613, 18318359, 18318502, 18320465-18320473, 18322417
109ANO5110.79905178701678551274222291858-22291988, 22294337-22294463, 22294490-22294528, 22296115, 22296179-22296207, 22296222-22296293, 22297647, 22297654-22297686, 22297737, 22301114-22301121, 22301143-22301155, 22301165-22301173, 22301181-22301184, 22301212-22301223, 22301228-22301247, 22301261-22301311
110FANCF110.9866666666666715112522646838-22646850, 22646906, 22647181
111WT1110.9684684684684749155432456677-32456678, 32456681-32456691, 32456695-32456696, 32456719, 32456722, 32456725-32456746, 32456807-32456809, 32456847-32456853
112PDHX110.92961487383798106150634991752, 34999683-34999706, 34999711, 34999715, 34999724-34999729, 35006138, 35006165, 35006176-35006177, 35006197-35006239, 35016473, 35016483-35016500, 35016584-35016585, 35016627, 35016671, 35016705, 35016710-35016711
113ALX4110.9757281553398130123644331284-44331313
114MYBPC3110.95660130718954166382547368992-47368996, 47370037, 47371342, 47371444, 47371450, 47371580-47371586, 47371596-47371631, 47371650, 47372071-47372097, 47372116-47372150, 47372822-47372832, 47372872-47372888, 47372924-47372925, 47372933-47372936, 47372941, 47372995-47373010
115SLC39A13110.9605734767025144111647431824-47431828, 47434970-47434972, 47434986, 47435980, 47435983, 47435998-47436012, 47436017, 47436379, 47436427-47436435, 47436598-47436604
116RAPSN110.994350282485887123947460482, 47463210, 47469397, 47470368, 47470494-47470496
117GIF110.9609250398724149125459596982, 59596992-59596993, 59599151-59599196
118TMEM216110.99621212121212126461165265
119SLC22A12110.92298435619735128166264359101-64359109, 64359149, 64359274, 64359291-64359302, 64359396, 64359400, 64360288, 64360887-64360888, 64360897, 64360926, 64360932, 64361023-64361028, 64361179-64361193, 64361206, 64367183-64367198, 64367236-64367294
120BBS1110.9943883277216610178266282095, 66291268-66291274, 66299430-66299431
121LRP5110.9812293729372991484868080183-68080273
122IGHMBP2110.991616364855825298268704532-68704556
123LRTOMT110.98515981735161387671817187-71817194, 71819730-71819732, 71819805, 71819934
124MYO7A110.89380264741276706664876883808-76883833, 76883850-76883854, 76885819-76885823, 76885854, 76885859, 76885869-76885871, 76885912-76885926, 76885948-76885960, 76886451-76886493, 76886502-76886510, 76888629-76888689, 76890091-76890175, 76890781-76890914, 76890934-76890964, 76890976-76890999, 76891430, 76891436-76891471, 76891474, 76891484-76891490, 76891516-76891527, 76892436-76892492, 76892569-76892575, 76892624-76892635, 76892997-76893015, 76893131-76893200, 76893538-76893546, 76893554, 76893563, 76893577-76893583, 76893625, 76894113-76894117, 76894159-76894162
125ALG8110.9569892473118368158177823715, 77823719-77823723, 77824994, 77825021-77825035, 77825321-77825365, 77825438
126FZD4110.998141263940523161486665921-86665923
127TRPC6110.97067238912732822796101323737-101323738, 101324445, 101325762-101325786, 101340167-101340171, 101340218-101340228, 101340231, 101342961, 101342994, 101342998-101343001, 101343006-101343008, 101343062-101343063, 101344261-101344264, 101359681, 101359745, 101359769, 101454159-101454175, 101454207, 101454210
128DYNC2H1110.9894167632290513712945102987382, 102991497-102991523, 102991654-102991660, 102991665, 103101989-103101997, 103106413-103106432, 103106447-103106488, 103107258-103107264, 103191921, 103228977, 103228994, 103229024, 103229040-103229045, 103229048, 103270391-103270392, 103270504, 103270511, 103327025-103327032
129ATM110.99749209464617239171108121490, 108124704, 108128228, 108139312, 108142101-108142107, 108143280-108143281, 108143284-108143286, 108143515-108143519, 108160504, 108236151
130RDX110.96175799086758671752110108280-110108281, 110108370-110108372, 110134721-110134730, 110134735-110134743, 110134860-110134866, 110135507-110135520, 110143275-110143286, 110143335-110143344
131DRD2110.995495495495561332113281450, 113295175-113295179
132TECTA110.98793503480278786465120989066, 120989071, 120989078-120989079, 120989312, 120989315, 120989321-120989323, 120989327-120989328, 121058632-121058654, 121058671-121058683, 121059789-121059790, 121059834, 121059837-121059844, 121059869-121059876, 121060473-121060480, 121060548, 121061417-121061419
133SC5DL110.9866666666666712900121174117, 121174123-121174126, 121174166-121174167, 121174234, 121175133, 121177128, 121178026, 121178074
134HYLS1110.82444444444444158900125769297-125769303, 125769336-125769337, 125769354, 125769385-125769390, 125769394-125769397, 125769452-125769459, 125769527, 125769656-125769661, 125769701, 125769705-125769716, 125769778, 125769798, 125769818, 125769826-125769832, 125769847, 125769912-125769930, 125769948-125769962, 125769981-125770012, 125770046-125770070, 125770074-125770078, 125770161-125770163
135WNK1120.999233716475111305978163
136WNK1120.947964750314733727149862732-862798, 862806-862834, 862852-862900, 862926-863014, 863051, 863056-863069, 863112-863114, 863203-863230, 863275, 863341-863342, 936208-936225, 936291, 936339-936382, 994399-994405, 994550-994552, 994809-994818, 995156-995158, 1006809, 1017149, 1017920
137CACNA2D4120.986526069127124634141992059, 1992076, 1992092-1992093, 1993437, 1993948-1993951, 1993954-1993955, 1993981-1993992, 1994026-1994027, 1994183, 1994218-1994237
138CACNA1C120.997408931565311765612676828, 2716245, 2717677-2717681, 2719833, 2797889-2797897
139FGF23120.96031746031746307564479618-4479634, 4479921-4479922, 4479933-4479935, 4488550, 4488563-4488564, 4488568-4488570, 4488632, 4488655
140VWF120.9765458422174819884426125338-6125344, 6127891, 6127919, 6127943, 6128128-6128152, 6128257-6128263, 6128339-6128357, 6128443, 6128479, 6128767, 6128771, 6128778, 6128787, 6128795, 6128892, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6220075-6220080, 6230360-6230403, 6230490-6230502
141TNFRSF1A120.99926900584795113686438572
142SCNN1A120.9460448102423411821876483627-6483632, 6483707-6483716, 6483786-6483810, 6483840-6483849, 6483859, 6483873-6483877, 6483893, 6483899, 6483906-6483908, 6483912, 6483919-6483938, 6483959, 6483962-6483964, 6484072-6484086, 6484111-6484126
143ATN1120.984606773019875535737045888-7045942
144LDHB120.999004975124381100521796874
145ABCC9120.92731182795699338465021953992-21954000, 21954064-21954083, 21958982-21958994, 21960284-21960333, 21960354-21960362, 21960390-21960395, 21960402, 21962796, 21962813-21962822, 21962825, 21962851-21962875, 21964998-21965000, 21965025-21965065, 21967621, 21967624-21967626, 21967634-21967638, 21968752-21968762, 21971147-21971173, 21981894, 21981922-21981956, 22040811-22040817, 22063230-22063245, 22063846, 22063869, 22068648-22068672, 22068715, 22069908, 22069961, 22069998-22069999, 22070003-22070011, 22070016, 22089479
146KRAS120.947368421052633057025380229, 25398213-25398234, 25398263-25398269
147FGD4120.9708822251195167230132729353-32729379, 32735236, 32751442, 32751491, 32754293, 32763730, 32763754-32763759, 32764071-32764091, 32772741, 32778594-32778600
148DNM1L120.9696969696969767221132832362, 32866258, 32884061, 32884409-32884410, 32884414-32884416, 32884868-32884873, 32886733-32886740, 32890092-32890095, 32890805-32890810, 32890817-32890818, 32890825, 32890833, 32890855-32890858, 32893392-32893399, 32895599-32895617
149PKP2120.9940334128878315251432955383-32955387, 33049555-33049564
150LRRK2120.9981540084388214758440692121, 40692133, 40692277, 40692911-40692917, 40692950, 40692979, 40696673, 40699635
151PFKM120.9935979513444315234348526712, 48534561-48534566, 48535556-48535560, 48535832, 48539423-48539424
152MLL2120.99578668592753701661449426902-49426926, 49427247-49427290, 49427652
153TUBA1A120.98026315789474945649522235-49522241, 49522578, 49522605
154KRT81120.9670619235836650151852681413-52681440, 52682999-52683005, 52685173-52685174, 52685186-52685198
155KRT86120.998631074606432146152696915, 52697952
156KRT6B120.999410029498531169552845801
157KRT6C120.9870206489675522169552865915-52865921, 52867102-52867108, 52867260, 52867457-52867463
158ITGA7120.998248686514896342656088082-56088087
159MYO1A120.999680715197961313257431775
160TSFM120.965235173824133497858176595-58176628
161GNS120.9855334538878824165965152911, 65152918, 65152932, 65152974-65152981, 65152994, 65153013-65153024
162LEMD3120.9751461988304168273665563386, 65563425-65563448, 65563616-65563634, 65563744, 65563749, 65563752, 65563772, 65563895, 65563938-65563941, 65563958, 65563977-65563982, 65564026, 65564887, 65564890-65564894, 65639517
163LYZ120.961968680089491744769742200-69742216
164TPH2120.9470468431771978147372372748-72372791, 72372813-72372840, 72388248, 72425105-72425106, 72425318-72425320
165CEP290120.98306451612903126744088443070-88443079, 88443090, 88443120, 88443125, 88444135, 88444202-88444210, 88448181-88448183, 88452732-88452735, 88457863, 88462364, 88472957, 88472960-88472961, 88478578, 88481600, 88481609, 88512301-88512318, 88513965-88513966, 88519084-88519086, 88532922-88532927, 88533341, 88534753-88534810
166SLC17A8120.9960451977401171770100813619-100813625
167SYCP3120.9324894514767948711102122902, 102125425-102125443, 102127386-102127413
168GNPTAB120.9848846459825573771102173964-102173976, 102182367, 102224357-102224373, 102224400-102224406, 102224424-102224442
169ATXN2120.7437848807711810103942111891498, 111902491-111902519, 111907916-111907918, 111908412-111908442, 111923555, 111923560-111923566, 111926303-111926304, 111926318, 111926376-111926378, 111926383-111926385, 111926436-111926439, 111947355-111947356, 111947723, 111947726, 111947733-111947753, 111957734-111957747, 111957750-111957756, 111957782, 111958712, 111958718-111958719, 111958727-111958733, 111963044, 111963048, 111963082-111963115, 111990087, 111990115-111990120, 111990188-111990194, 111990223, 111990729, 111990744-111990781, 111991962-111992003, 111993691-111993705, 111993712, 112036588-112037210, 112037216-112037249, 112037256-112037318
170TBX3120.98297491039427382232115109722-115109737, 115109880, 115109914-115109919, 115109968, 115110028, 115110039-115110045, 115110048, 115112202, 115112325-115112328
171HNF1A120.9994725738396611896121434468
172SGCG130.99771689497717287623808822, 23824783
173SACS130.967248908296944501374023905323-23905326, 23907324, 23907507, 23907677, 23907686-23907690, 23907694-23907696, 23908422-23908440, 23908621-23908631, 23908636-23908656, 23908921, 23909550, 23910569-23910577, 23910647-23910650, 23910719, 23910868-23910872, 23910875-23910889, 23910996-23910999, 23911162-23911171, 23911241, 23911304, 23911346, 23911350-23911351, 23911386-23911396, 23911634-23911636, 23911714-23911715, 23911724-23911725, 23911728-23911732, 23911748, 23911786-23911789, 23912029, 23912064-23912066, 23912329-23912341, 23912537-23912538, 23912545-23912564, 23912596, 23912725-23912746, 23912772-23912790, 23912816-23912819, 23912922-23912928, 23912978-23912984, 23912996-23913015, 23913082-23913100, 23913180-23913188, 23913322-23913328, 23913514-23913521, 23913587, 23913614, 23913714, 23913894-23913895, 23914305-23914306, 23914331, 23914456-23914461, 23914566-23914572, 23914893-23914896, 23915002-23915012, 23915111-23915146, 23915337-23915341, 23915360, 23915369-23915388, 23915453, 23915457-23915458, 23915711-23915724, 23928925, 23949258-23949278, 23949318, 23949328
174CENPJ130.9907891461289537401725458107, 25458560-25458566, 25459744-25459768, 25466813-25466816
175B3GALTL130.9786239144956632149731774262, 31843397, 31843405, 31860893-31860907, 31860937-31860950
176BRCA2130.99883006727113121025732900261, 32914208-32914218
177FREM2130.831545741324921602951039261629-39261632, 39261635, 39261642-39261654, 39261661, 39261669-39261670, 39261913-39261919, 39261961-39261968, 39262057, 39262067, 39262185-39262192, 39262435, 39263714, 39264528, 39264690, 39265033, 39420710-39420721, 39420731-39420745, 39420757, 39420761, 39420764-39420810, 39420831-39420859, 39422598-39422608, 39422625-39422671, 39422679-39422702, 39422737-39422782, 39422800-39422807, 39424175-39424254, 39424281-39424284, 39424289-39424300, 39424314-39424341, 39424363-39424365, 39425081-39425091, 39425104-39425179, 39425185-39425245, 39425823-39425948, 39425965-39425967, 39425970-39425983, 39425999, 39430263-39430393, 39432012-39432170, 39433424-39433428, 39433436, 39433454-39433486, 39433495-39433568, 39433586, 39433593-39433649, 39433653, 39433657-39433672, 39433693-39433723, 39435568-39435699, 39438421-39438432, 39438473-39438568, 39438590-39438628, 39438655-39438743, 39446949-39446951, 39448619-39448623, 39450437-39450441, 39452275
178RB1130.9827771797631948278748951168, 48954189-48954192, 48954321, 48954324, 48954370-48954377, 48955461-48955493
179RNASEH2B130.946751863684775093951522186, 51522195, 51522201-51522204, 51528091-51528100, 51530544-51530551, 51530575-51530600
180CLN5130.9509803921568660122477566194-77566203, 77569255-77569256, 77574654, 77574762-77574768, 77574796-77574829, 77574887, 77574931-77574933, 77575074, 77575083
181EDNRB130.9322799097065590132978472350, 78472368, 78472375, 78472396, 78472439-78472469, 78474692-78474735, 78475230, 78492256-78492265
182SLITRK1130.999521759923481209184453774
183ZIC2130.96998123827392481599100634395-100634405, 100635004-100635040
184PCCA130.98856881572931252187101101514-101101521, 101101540-101101541, 101101545-101101559
185ERCC5130.9995281906109924239103518145-103518146
186COL4A1130.99101796407186455010110838862-110838875, 110853826-110853827, 110959340-110959357, 110959360-110959370
187F7130.1850187265917610881335113760160, 113760182-113760186, 113760189-113760202, 113760213-113760219, 113765004-113765164, 113768088-113768090, 113768161-113768166, 113768183-113768210, 113768250-113768274, 113769974-113770114, 113771086-113771114, 113771161-113771176, 113771787-113771803, 113771809-113771910, 113772727-113772935, 113772948-113773045, 113773064-113773088, 113773103-113773261, 113773269-113773273, 113773286-113773322
188F10130.857532379004772091467113777170-113777239, 113792771-113792781, 113803233, 113803254, 113803284, 113803302-113803350, 113803378-113803381, 113803388, 113803535-113803583, 113803666, 113803695-113803708, 113803717, 113803823-113803828
189GRK1130.564420803782517371692114321702-114321727, 114321745-114321893, 114321900-114321911, 114321922-114321950, 114321979-114322013, 114322030-114322033, 114322036-114322077, 114322082, 114322085, 114322099-114322165, 114322179, 114322191-114322220, 114322236, 114322244-114322256, 114322259, 114322264, 114322270, 114322289, 114322300-114322357, 114322371-114322388, 114322391-114322400, 114324007-114324017, 114324038-114324058, 114324101-114324102, 114324105-114324120, 114325814-114325843, 114325849-114325856, 114325863-114325919, 114325926-114325971, 114426047-114426065, 114426079-114426104
190TEP1140.999112125824457788420851760-20851766
191RPGRIP1140.9943019943019922386121794138, 21794217-21794219, 21794309-21794322, 21798428-21798431
192SLC7A7140.82552083333333268153623282133-23282135, 23282145-23282159, 23282162-23282167, 23282175-23282202, 23282218-23282236, 23282245-23282290, 23282315-23282338, 23282365-23282378, 23282401-23282410, 23282417-23282418, 23282431, 23282440-23282465, 23282515-23282587, 23282607
193PABPN1140.925081433224766992123790694, 23790748, 23790751-23790753, 23790858-23790879, 23790894, 23790905, 23790942, 23790954-23790992
194FOXG1140.74353741496599377147029236486-29236505, 29236528-29236530, 29236587-29236607, 29236619-29236948, 29236960, 29237083, 29237088
195COCH140.999395039322441165331344284
196CFL2140.974051896207581350135182073-35182075, 35182080-35182082, 35182146, 35182518, 35182582, 35182716, 35183744-35183746
197FANCM140.832763949894261028614745623953-45623975, 45639843, 45639849, 45639862, 45642300-45642312, 45642342, 45642368-45642372, 45642391, 45644274-45644302, 45644328, 45644337-45644338, 45644351, 45644355-45644363, 45644377, 45644380-45644386, 45644390-45644395, 45644406, 45644411-45644424, 45644451, 45644486, 45644520-45644521, 45644573-45644591, 45644595-45644599, 45644657-45644658, 45644661, 45644694-45644695, 45644834, 45644839, 45644846-45644851, 45644888-45644901, 45645007-45645011, 45645063-45645126, 45645169-45645171, 45645199-45645234, 45645243-45645250, 45645256-45645261, 45645291-45645315, 45645360, 45645378-45645411, 45645414-45645422, 45645430, 45645445-45645471, 45645488, 45645502-45645504, 45645561-45645594, 45645610-45645634, 45645645-45645711, 45645734-45645776, 45645817, 45645821-45645822, 45645825-45645827, 45645855-45645907, 45645910-45645914, 45645943-45646064, 45646122-45646173, 45650633-45650727, 45650856-45650887, 45650904, 45650908, 45652977-45653013, 45653062-45653076, 45654483, 45654487-45654491, 45654533-45654549, 45658006-45658011, 45665466, 45665508-45665515, 45665681, 45667903, 45668117-45668120, 45669190
198C14orf104140.95505171042164113251450092454-50092466, 50100611-50100612, 50100691, 50100750-50100779, 50100815-50100818, 50100939-50100940, 50100975-50101012, 50101096-50101098, 50101257-50101276
199L2HGDH140.9885057471264416139250713925, 50713929, 50713938-50713939, 50734473-50734478, 50745252-50745257
200ATL1140.977737665463337166251099020-51099056
201SYNE2140.99937270797143132072464375933-64375934, 64445625, 64447385, 64449443, 64457790, 64516335, 64518969, 64637136, 64637147-64637149, 64641681
202ZFYVE26140.99973753280842762068282488-68282489
203PSEN1140.99857549857552140473664739-73664740
204EIF2B2140.87878787878788128105675469742-75469743, 75469752-75469755, 75469759-75469763, 75469834, 75469978-75470024, 75470262-75470263, 75470267-75470271, 75471451, 75471458-75471469, 75471513-75471555, 75471588-75471593
205MLH3140.999770747363591436275513534
206GALC140.94071914480078122205888407870-88407872, 88411920, 88416226, 88417091-88417092, 88434707-88434710, 88434768, 88459325, 88459337, 88459362-88459363, 88459367-88459434, 88459439-88459440, 88459456-88459462, 88459480-88459508
207SPATA7140.999444444444441180088862529
208TTC8140.9857881136950922154889300061, 89310156-89310173, 89319353, 89319392, 89336424
209FBLN5140.9829250185597623134792347680-92347685, 92349316-92349328, 92349384, 92349412-92349414
210ATXN3140.9254143646408881108692530681-92530689, 92530698-92530731, 92530755-92530758, 92537301-92537305, 92537355-92537357, 92547374-92547397, 92548736, 92548739
211VRK1140.9781696053736426119197304110-97304135
212AMN140.888399412628491521362103389049, 103390138, 103390285-103390291, 103395501-103395505, 103395524, 103395568, 103395571-103395573, 103396301-103396344, 103396412-103396414, 103396418-103396423, 103396541-103396562, 103396595-103396621, 103396626-103396644, 103396647-103396653, 103396759, 103396765, 103396925, 103396942, 103397015
213INF2140.928533333333332683750105173758-105173778, 105173907-105174152, 105179611
214NIPA1150.7404040404040425799023048919-23048926, 23048995-23048997, 23049002, 23049049, 23049081, 23049157, 23049160-23049166, 23049169-23049172, 23049241-23049278, 23049291-23049305, 23086234-23086411
215SNRPN150.99446749654219472325220549, 25222100, 25222105, 25223419
216UBE3A150.73820395738204688262825584284-25584314, 25584330-25584365, 25584383-25584404, 25585259, 25585273-25585281, 25585332-25585349, 25585352, 25585374-25585375, 25601915-25601934, 25615734-25615783, 25615867-25615886, 25615923-25615952, 25615964-25615965, 25616001-25616044, 25616056-25616093, 25616115, 25616148, 25616152, 25616171-25616201, 25616250-25616306, 25616361, 25616390-25616415, 25616451, 25616461-25616467, 25616490-25616518, 25616569, 25616620-25616626, 25616680-25616691, 25616704, 25616736-25616796, 25616812-25616840, 25616853-25616856, 25616886, 25616904, 25620648-25620681, 25620708-25620712, 25620738-25620777, 25620802-25620803, 25620806-25620814, 25653790, 25653794
217OCA2150.9892729439809327251728090173, 28273053-28273056, 28273075, 28273132-28273137, 28273141-28273148, 28273160-28273166
218SLC12A6150.999710396756441345334551082
219SPRED1150.9722846441947637133538545400, 38614498, 38614525, 38614560, 38643308-38643317, 38643528-38643533, 38643537-38643541, 38643622-38643623, 38643763-38643770, 38643778, 38643782
220CHST14150.992926613616278113140763432, 40763526-40763532
221TTBK2150.95180722891566180373543038001-43038015, 43038276, 43044200, 43044228-43044232, 43044434, 43044685, 43044688-43044690, 43044722-43044723, 43044773, 43044817, 43044834, 43044861, 43045283, 43045330, 43067450-43067452, 43067478, 43067503-43067505, 43067807, 43067867, 43075645-43075681, 43075695, 43075708-43075724, 43075750-43075769, 43075827-43075833, 43086915-43086918, 43103887, 43103955-43103965, 43109238-43109271, 43132597-43132600
222STRC150.9934309309309335532843892847, 43896606, 43897499, 43908275-43908288, 43908763-43908769, 43910436-43910443, 43910867-43910869
223STRC150.9892307692307721195044007737-44007750, 44008225-44008231
224SPG11150.94271685761047420733244855327-44855339, 44855406-44855435, 44855493-44855499, 44856757, 44856761-44856765, 44856803-44856814, 44856820, 44856887-44856896, 44858126-44858146, 44858175-44858203, 44858421-44858423, 44858430, 44858452, 44858466-44858467, 44858500-44858503, 44859622-44859623, 44859634, 44859662-44859664, 44859668, 44859672-44859681, 44859715-44859776, 44861603-44861669, 44861688-44861703, 44862729-44862731, 44862775-44862789, 44862802, 44862819-44862821, 44864890-44864926, 44864933-44864971, 44865757-44865763, 44867168, 44867179-44867180, 44867193, 44941090, 44941113, 44941121-44941123, 44943710-44943712, 44943715
225GATM150.9724842767295635127245670602, 45670605-45670636, 45670644-45670645
226SLC12A1150.90969696969697298330048499917-48499927, 48499936-48500005, 48500019-48500049, 48500065-48500066, 48500076, 48500082, 48500132-48500133, 48500173-48500222, 48500252-48500256, 48500283-48500318, 48512855-48512873, 48513138-48513139, 48521386-48521390, 48521495-48521503, 48522620-48522621, 48527080-48527119, 48527178-48527189
227FBN1150.999883936861651861648800823
228CEP152150.9883182275931558496549033862, 49034268, 49034271, 49036437-49036442, 49036481, 49036490, 49037175-49037182, 49059548, 49059643, 49073519, 49076211, 49076217-49076236, 49083462-49083469, 49088299, 49097790, 49097817, 49097824-49097827
229SCG3150.9424307036247381140751973985, 51974723-51974730, 51988102, 51988144, 51988185, 51991539, 51991543-51991546, 51991572-51991599, 51993304-51993309, 51993356-51993360, 51993390-51993405, 51993408-51993413, 51993440-51993441, 52011680
230SPG21150.99244875943905792765257669-65257675
231CLN6150.99679487179487393668521911-68521913
232BBS4150.998076923076923156073016980-73016982
233HCN4150.9867109634551548361273615390-73615404, 73660203, 73660358-73660367, 73660541-73660561, 73660594
234MPI150.999213836477991127275189930
235PSTPIP1150.84732214228617191125177327849-77327881, 77328152-77328166, 77328180, 77328189-77328215, 77328237, 77328243-77328262, 77329386-77329438, 77329456-77329459, 77329472, 77329482-77329517
236RLBP1150.9937106918239695489753547-89753552
237FANCI150.95435164283923182398789790900, 89804950, 89806650-89806661, 89807160, 89807208-89807209, 89807221, 89807824, 89824471-89824476, 89824482, 89834844, 89834911-89834941, 89835919-89835928, 89835937, 89835940-89835944, 89835955-89835961, 89835980-89836017, 89836173-89836178, 89836192-89836208, 89836247-89836253, 89837186, 89837191-89837200, 89837206-89837208, 89843052, 89843159-89843176
238POLG150.998387096774196372089876828-89876833
239MESP2150.9824120603015121119490320146, 90320161, 90320170-90320188
240BLM150.9971791255289112425491292631, 91292708-91292716, 91292963, 91337479
241HBZ160.28438228438228307429203891, 203900-203933, 203941-204006, 204019-204095, 204271-204399
242HBM160.9248826291079832426216013-216026, 216290-216291, 216332-216346, 216612
243HBA2160.3006993006993300429222912-223006, 223124-223197, 223216-223267, 223294-223296, 223312, 223316-223318, 223321-223328, 223475-223501, 223512-223519, 223547-223552, 223577-223599
244CLCN7160.9503722084367212024181497425-1497426, 1509176-1509180, 1524835, 1524850, 1524855-1524894, 1524905-1524975
245IGFALS160.988612836438922219321841036-1841047, 1841445, 1841755-1841761, 1842380, 1842438
246GFER160.92880258899676446182034308-2034350, 2034445
247TSC2160.983407079646029054242103362, 2103371-2103416, 2103432, 2104299, 2106206-2106212, 2108755-2108780, 2108810-2108812, 2108819, 2110771, 2130324-2130325, 2136363
248PKD1160.460579306071876965129122139836, 2139908-2139920, 2140050, 2140320-2140321, 2140545-2140558, 2140916-2140933, 2140978, 2140981, 2141004-2141008, 2141033-2141098, 2141113-2141175, 2141524-2141570, 2142076, 2147201, 2147206, 2147499, 2147882-2147920, 2147964, 2149694-2149700, 2149712-2149771, 2149870-2149871, 2149875-2149876, 2149898-2149934, 2149956-2149991, 2149997-2150052, 2150167-2150226, 2150281-2150310, 2150397-2150415, 2150443-2150484, 2150516, 2150521, 2150527-2150537, 2150540-2150555, 2152093, 2152101-2152117, 2152178-2152181, 2152194-2152245, 2152251, 2152447-2152465, 2152486, 2152489-2152495, 2152521-2152586, 2152817, 2152883-2152887, 2152920-2152954, 2153267-2153500, 2153522-2153528, 2153550-2153558, 2153579-2153601, 2153629-2153632, 2153639, 2153663-2153865, 2153872-2153880, 2153895-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2160565, 2160574-2160589, 2160605-2160961, 2160991, 2160997, 2161006-2161089, 2161104-2161118, 2161125-2161308, 2161323, 2161363-2161445, 2161454-2161505, 2161519-2161527, 2161531-2161544, 2161575-2161594, 2161600, 2161604, 2161609, 2161615, 2161627-2161652, 2161661-2161771, 2161794-2161863, 2162360-2162367, 2162373, 2162391, 2162450-2162474, 2162829, 2162832, 2162855-2162907, 2162914-2162939, 2162945-2162964, 2163180, 2163185, 2163188-2163199, 2163208, 2163240-2163265, 2164197-2164232, 2164313-2164324, 2164374, 2164377, 2164440-2164441, 2164444-2164452, 2164463-2164465, 2164468-2164470, 2164502-2164533, 2164673, 2164676-2164709, 2164752-2164758, 2164785-2164839, 2164852-2164894, 2165392-2165399, 2165583-2165608, 2166901-2166921, 2166976-2166982, 2167586, 2167665-2167673, 2167792-2167811, 2167833-2167878, 2167954-2167997, 2168007-2168034, 2168062-2168071, 2168090-2168092, 2168100, 2168106, 2168127-2168166, 2168185-2168199, 2168289-2168310, 2168364-2168371, 2168388-2168426, 2168707-2168710, 2169132-2169139, 2169308-2169325, 2169365-2169379, 2185476-2185541, 2185547-2185572, 2185592-2185690
249ABCA3160.976148582600212251152347397-2347426, 2347431, 2347507-2347540, 2347890-2347922, 2348507-2348512, 2349461, 2350006-2350021, 2354106
250MEFV160.99957374254049123463293888
251SLX4160.998001816530431155053651013, 3656523-3656528, 3658621-3658624
252CREBBP160.9420111884295342573293778440-3778442, 3778448, 3779148-3779153, 3779365-3779366, 3900317-3900342, 3900355, 3900366, 3900377-3900378, 3900390, 3900408-3900421, 3900452-3900453, 3900478, 3900484-3900501, 3900521, 3900526-3900540, 3900589-3900654, 3900663-3900738, 3900773-3900837, 3900856, 3900863-3900903, 3900914, 3900923-3900996, 3901004-3901010
253GLIS2160.9314285714285710815754385121, 4386793-4386807, 4386814-4386815, 4386870, 4386936, 4386960, 4386964-4386978, 4387052-4387053, 4387056, 4387136-4387157, 4387225, 4387292-4387297, 4387304, 4387307, 4387322, 4387329, 4387367, 4387391-4387422, 4387500-4387502
254ALG1160.8143369175627225913955121883-5121900, 5128834-5128871, 5130959-5131008, 5131015-5131057, 5132636, 5133685-5133716, 5133750-5133758, 5134751-5134783, 5134812-5134846
255ABAT160.99933466400532115038839954
256ABCC6160.94348404255319255451216259516-16259533, 16263703-16263710, 16267141-16267177, 16267199, 16267210-16267261, 16269778-16269779, 16269790-16269843, 16271357-16271358, 16271362-16271363, 16271421-16271434, 16271469-16271470, 16272670, 16276415, 16295890-16295905, 16295930-16295960, 16297307-16297313, 16313509-16313515
257UMOD160.8523140925637284192320348017, 20348673-20348698, 20348704-20348705, 20352413-20352440, 20352546-20352592, 20352642, 20357531, 20359758-20359774, 20359850-20359890, 20359909-20359925, 20359969-20359972, 20359977-20359983, 20360042-20360045, 20360048-20360053, 20360072-20360095, 20360175, 20360207-20360208, 20360269, 20360316-20360328, 20360353, 20360356, 20360367-20360370, 20360389-20360415, 20360465, 20362049-20362055
258OTOA160.997953216374277342021747694-21747700
259CLN3160.997722095671983131728497673-28497675
260TUFM160.9576023391812958136828857326-28857347, 28857372-28857378, 28857416, 28857419, 28857539-28857542, 28857568-28857590
261FUS160.997469955724234158131195269, 31196403-31196405
262PHKB160.9969530773918310328247533667, 47549487, 47627467-47627468, 47683050, 47727402, 47732369-47732371, 47733208
263NOD2160.9718219660582888312350733443, 50733447, 50733453-50733457, 50744490, 50744868, 50745030, 50745088-50745095, 50745128-50745129, 50745202-50745205, 50745257, 50745326-50745330, 50745338-50745339, 50745370-50745382, 50745443, 50745525, 50745533-50745537, 50745802, 50745815-50745817, 50745821, 50745828-50745836, 50745880-50745882, 50745885-50745891, 50745894, 50746113, 50746146, 50746153-50746155, 50746163, 50746178-50746181, 50746185
264CYLD160.92837176799441205286250810092-50810113, 50810142-50810153, 50811736-50811745, 50811780-50811828, 50813576, 50813666, 50813676-50813678, 50813710-50813724, 50813734, 50813883-50813905, 50815196-50815204, 50815239, 50815321-50815322, 50816248-50816276, 50816361, 50816368-50816377, 50818286-50818299, 50818305, 50820785
265SALL1160.998993710691824397551175655-51175658
266CETP160.9925775978407611148257003339, 57003369, 57003426-57003432, 57007304, 57007347
267TK2160.99675324675325392466584013-66584015
268HSD11B2160.9770114942528728121867465202-67465219, 67465254-67465262, 67465272
269CDH3160.996385542168679249068712037-68712041, 68712497-68712498, 68721533, 68721619
270CDH1160.9901849754624426264968771330-68771355
271CIRH1A160.999029597282872206169167415, 69188333
272COG8160.89559543230016192183969364742-69364761, 69364777-69364779, 69364799-69364848, 69364863, 69366736-69366737, 69368489, 69368492-69368494, 69368943, 69370421, 69373079-69373097, 69373124-69373131, 69373135, 69373211-69373250, 69373257, 69373296, 69373302-69373319, 69373322-69373323, 69373328, 69373386-69373404
273TAT160.9794871794871828136571604701, 71604714, 71605512, 71605515, 71606202, 71606433-71606441, 71606470, 71606486-71606487, 71606517, 71606529-71606537, 71607493
274HP160.9492219492219562122172092155-72092209, 72094376-72094382
275GCSH160.7739463601532611852281129739-81129785, 81129803-81129873
276GAN160.9704570791527353179481348719, 81348747-81348779, 81348809-81348818, 81348825, 81348861-81348868
277MLYCD160.9385964912280791148283932783, 83932789-83932790, 83932982-83933007, 83933063-83933064, 83933084, 83933090-83933106, 83948619-83948620, 83948774-83948810, 83948949-83948951
278GALNS160.9802421924792931156988898417, 88923181-88923203, 88923261-88923267
279SPG7160.999162479061982238889576898, 89613123
280FANCA160.85279304029304643436889828360, 89828365, 89828418-89828426, 89831337, 89831340, 89831345-89831346, 89831350-89831351, 89831357, 89831362, 89831440-89831446, 89833579, 89833636, 89836363, 89836593-89836608, 89836977, 89836993-89837042, 89839745-89839760, 89839766, 89842150-89842223, 89845209-89845229, 89845372, 89846278-89846291, 89846295-89846297, 89846356-89846361, 89849284, 89849314-89849326, 89849443-89849445, 89849450-89849453, 89849480, 89851296, 89851302-89851307, 89851316, 89851370-89851372, 89857935, 89862330-89862333, 89862336-89862358, 89862361-89862380, 89862415-89862426, 89865584-89865626, 89866017-89866040, 89866043, 89871689, 89871720, 89871772-89871800, 89877145-89877148, 89877180-89877182, 89877350, 89877360-89877388, 89877401-89877408, 89880928-89880975, 89880998-89881008, 89881019-89881020, 89882285-89882320, 89882945-89883021
281TUBB3160.994826311899487135390001794-90001800
282PAFAH1B1170.987023519870241612332569347, 2570312, 2583496-2583509
283ASPA170.98195329087049179423379567, 3384940, 3384994-3384995, 3385038-3385050
284CTNS170.936824605153787612033559830, 3559842-3559870, 3560032-3560074, 3560086-3560088
285PITPNM3170.9189743589743623729256358669-6358677, 6358685-6358748, 6358762-6358818, 6358843-6358873, 6358876-6358877, 6358905-6358937, 6358945-6358963, 6459705-6459726
286ACADVL170.9989837398374219687126063, 7128328
287GUCY2D170.941727053140119333127906366-7906376, 7906379-7906389, 7906392, 7906396-7906397, 7906412, 7906415, 7906425-7906427, 7906442-7906443, 7906451, 7906499, 7906502-7906504, 7906510-7906511, 7906514-7906527, 7906531-7906532, 7906561-7906606, 7906625, 7906662-7906666, 7906718-7906733, 7906767, 7906843-7906862, 7906911-7906941, 7907021, 7907176-7907192
288ALOX12B170.99952516619183121067990733
289HES7170.376106194690274236788024896-8025114, 8025126-8025147, 8025157-8025170, 8025175-8025211, 8025215-8025269, 8025281-8025284, 8025301, 8025314-8025340, 8025661-8025677, 8025695-8025707, 8025732-8025742, 8026426, 8026429-8026430
290MYH2170.9962238242361822582610424685-10424700, 10427908-10427909, 10427924, 10428117, 10446426-10446427
291ELAC2170.999596936719061248112916544
292COX10170.993243243243249133213972949, 13972955, 13977671-13977674, 13977679-13977680, 13980058
293FLCN170.9902298850574717174017117136, 17119705-17119720
294RAI1170.98182135990212104572117697094-17697105, 17697598-17697639, 17697784, 17697790, 17697794, 17698179-17698180, 17698812-17698815, 17698824-17698826, 17698864-17698869, 17699036-17699042, 17699142, 17699277-17699300
295ATPAF2170.983908045977011487017924461-17924473, 17931957
296MYO15A170.99367506844142671059318023897, 18024013, 18024018-18024023, 18024026-18024028, 18024266, 18024275-18024276, 18024306, 18024398-18024417, 18024725-18024740, 18024815, 18024839, 18024844, 18024850, 18025050-18025060, 18039909
297ALDH3A2170.999345121152591152719559855
298NEK8170.9980759980764207927067962-27067965
299NF1170.91091549295775759852029422387, 29483001-29483002, 29483033, 29486049-29486052, 29486063-29486064, 29486068-29486071, 29486095, 29486098-29486111, 29490345-29490375, 29496909, 29496956-29496959, 29496989, 29527442-29527448, 29541521-29541527, 29546075, 29548938-29548947, 29552113-29552123, 29553481-29553553, 29553592-29553613, 29553636-29553658, 29553676-29553699, 29554253, 29554260-29554272, 29554281-29554283, 29554293-29554309, 29554579-29554622, 29556044-29556077, 29556106, 29556137-29556164, 29556189-29556219, 29556235-29556282, 29556311-29556341, 29556387-29556393, 29556417-29556455, 29556873-29556898, 29556970-29556975, 29556991-29556992, 29557278-29557288, 29557371-29557389, 29557876-29557877, 29557927-29557943, 29560204-29560231, 29653023, 29653037, 29653040, 29653166-29653171, 29654539, 29654548-29654549, 29657350, 29657432-29657449, 29661997, 29662005, 29662010, 29663364, 29663386, 29664409, 29664413, 29667602, 29670029, 29670041-29670048, 29670073-29670110, 29676138-29676142, 29676188, 29676193-29676196, 29679280-29679290
300HNF1B170.9928315412186412167436059091-36059094, 36059117-36059124
301KRT10170.94017094017094105175538975279-38975371, 38975378-38975389
302KRT14170.92600422832981105141939739509-39739515, 39741304-39741309, 39742829-39742872, 39742990-39743037
303KRT16170.90154711673699140142239766187-39766198, 39766608, 39767106, 39767741, 39767750, 39767753, 39768490-39768496, 39768692-39768729, 39768740-39768753, 39768816-39768879
304KRT17170.65280985373364451129939775891, 39775916-39775940, 39776788-39776791, 39776809-39776810, 39776922, 39777008, 39777080-39777097, 39777323-39777338, 39777883-39777927, 39777937-39777957, 39777967-39777996, 39778655-39778671, 39778678-39778725, 39778738-39778763, 39779204-39779245, 39780344-39780390, 39780417-39780440, 39780519-39780520, 39780537, 39780541, 39780564, 39780624, 39780637, 39780670-39780711, 39780728-39780761
305STAT5B170.88155668358714280236440353768-40353771, 40353811, 40353880-40353882, 40359605-40359609, 40359628, 40359667-40359668, 40364048, 40364167, 40369422, 40369446-40369471, 40370229-40370232, 40370241, 40370342, 40370741-40370764, 40370847-40370866, 40370876, 40371379, 40371384, 40371412-40371418, 40371431-40371435, 40371439, 40371442-40371456, 40371462, 40371730-40371761, 40371824-40371858, 40375420-40375439, 40375463-40375476, 40375494-40375511, 40375572, 40376832-40376843, 40376877-40376886, 40379568, 40379574-40379575, 40379581-40379585, 40379595, 40379598, 40384124
306STAT3170.999135322092522231340474345, 40474357
307WNK4170.89174705251876404373240932744, 40932768, 40932786-40932787, 40932795-40932828, 40932833, 40932838-40932839, 40932863, 40932875-40932901, 40932910-40932917, 40932920-40932931, 40932935, 40932948, 40932958-40932961, 40933061-40933083, 40933088-40933091, 40933125, 40933144, 40933147-40933148, 40933248, 40933287-40933308, 40935955, 40935958, 40935961, 40935964-40935984, 40936033, 40936038-40936039, 40936440-40936469, 40936497, 40936529-40936531, 40936535-40936542, 40936553, 40936558, 40937321-40937365, 40937403, 40937500, 40939321-40939325, 40939796-40939840, 40939865-40939898, 40939907-40939917, 40940171, 40940315-40940318, 40940326-40940350, 40940359-40940365, 40940423, 40940733, 40940812-40940814
308G6PC170.9599627560521443107441059609-41059611, 41062957, 41063036-41063060, 41063085, 41063193, 41063252-41063254, 41063265, 41063429-41063431, 41063434-41063435, 41063440-41063442
309BRCA1170.85658709106985811565541219625-41219630, 41219652-41219659, 41222958, 41223012-41223032, 41223043-41223071, 41223077, 41223162-41223164, 41243013, 41243045-41243049, 41243538-41243539, 41243544-41243561, 41243656, 41243755-41243798, 41243905-41243924, 41243970-41243976, 41243997-41244035, 41244148-41244159, 41244193, 41244225-41244231, 41244260-41244293, 41244359-41244390, 41244396, 41244452-41244461, 41244469-41244475, 41244484-41244488, 41244520, 41244549-41244552, 41244621, 41244696-41244721, 41244741, 41244744, 41244769-41244772, 41244936, 41244973-41244976, 41245196, 41245209-41245226, 41245274-41245278, 41245339-41245356, 41245391-41245408, 41245452-41245458, 41245475, 41245488, 41245494-41245495, 41245510-41245533, 41245558-41245564, 41245592-41245605, 41245671-41245681, 41245744-41245763, 41245773-41245831, 41245886-41245914, 41245942-41245944, 41245956-41245968, 41245971-41245976, 41246006-41246028, 41246074, 41246086-41246103, 41246162-41246168, 41246189, 41246193-41246204, 41246344, 41246420-41246423, 41246427-41246435, 41246492-41246497, 41246619-41246622, 41246633, 41246676-41246682, 41246825-41246857, 41247923, 41256162-41256199, 41267755-41267784
310SLC4A1170.999634502923981273642331984
311PLEKHM1170.9722485020498388317143530767, 43531170-43531206, 43535535-43535566, 43535696-43535702, 43535745, 43545750-43545756, 43545838, 43552874, 43555449
312ITGB3170.996620194338838236745331233-45331239, 45331242
313COL1A1170.9920364050056935439548265936-48265969, 48267056
314RAD51C170.996463306808134113156809868-56809871
315TRIM37170.95302245250432136289557105807, 57105880-57105940, 57105951-57105958, 57105961, 57125074, 57134292-57134302, 57134414-57134415, 57141749-57141766, 57153035-57153041, 57153047, 57165658-57165665, 57168661-57168676, 57168684
316BRIP1170.86933333333333490375059760660-59760664, 59760714-59760719, 59760760-59760785, 59760804-59760807, 59760843, 59760846-59760854, 59760880, 59760911, 59760940-59760942, 59761010-59761037, 59761068-59761089, 59761092-59761111, 59761116-59761119, 59761123, 59761134, 59761146-59761188, 59761208-59761234, 59761245-59761248, 59761300-59761318, 59761321-59761329, 59761333-59761335, 59761365-59761371, 59761404-59761420, 59761456-59761480, 59761498-59761501, 59763197-59763220, 59763230-59763258, 59763288-59763299, 59763308-59763319, 59763347, 59763350-59763412, 59763456-59763477, 59763491-59763526, 59793339
317ACE170.9806171894924876392161554471-61554514, 61554554-61554581, 61554596-61554598, 61554679
318POLG2170.999314128943761145862492842
319PRKAR1A170.80191972076789227114666511680, 66518909-66518925, 66518971, 66519929-66519940, 66519944-66519946, 66520202-66520218, 66521903-66521909, 66521998-66522002, 66522009, 66522015-66522029, 66522041-66522047, 66524013-66524027, 66525092-66525124, 66526061-66526075, 66526117-66526142, 66526439, 66526447, 66526514-66526563
320COG1170.9942235813795417294371189264-71189278, 71189294, 71189464
321TSEN54170.9892473118279617158173512653, 73512665, 73512675, 73512854-73512861, 73512919-73512920, 73512928-73512930, 73518378
322ACOX1170.81290973272819371198373942852-73942854, 73944349, 73944374, 73944461-73944463, 73944530-73944538, 73945312-73945369, 73945394-73945397, 73945430-73945441, 73945576-73945590, 73945628, 73945637, 73945825, 73945850-73945882, 73945970-73945971, 73946881, 73946920-73946921, 73947014-73947045, 73947496-73947509, 73947534-73947554, 73947557-73947572, 73947610, 73947630, 73947655-73947658, 73949570, 73949605, 73949647, 73949660, 73949681-73949701, 73951719, 73951730, 73951993-73951997, 73953557-73953563, 73974629-73974650, 73974660-73974688, 73974724-73974725, 73974752-73974762, 73974767, 73975046-73975057, 73975097-73975114, 73975154
323SEPT9170.91822827938671144176175277618-75277622, 75478226-75478254, 75478323-75478324, 75478340, 75478361-75478371, 75483588-75483594, 75484908-75484914, 75494628-75494653, 75494664, 75494667-75494672, 75494678-75494726
324GAA170.9856593214410641285978091444, 78091447-78091453, 78091544, 78091994, 78092035-78092036, 78092040, 78092142, 78092569-78092595
325SGSH170.998674618952952150978190863-78190864
326ACTG1170.72960992907801305112879477758-79477778, 79477807-79477815, 79477818-79477820, 79477830, 79477963-79477965, 79477982, 79477993, 79477996, 79478006-79478010, 79478016-79478054, 79478075, 79478233-79478240, 79478247, 79478282-79478304, 79478314-79478373, 79478428, 79478434, 79478446, 79478501-79478542, 79478584-79478593, 79478973-79478999, 79479258-79479280, 79479342-79479364
327FSCN2170.8316430020284249147979495681, 79495726-79495727, 79495734-79495742, 79495751, 79495764-79495807, 79495858-79495876, 79495909-79495910, 79495937-79495958, 79495967, 79495976, 79495982-79496022, 79496096, 79496100-79496103, 79496114, 79496134, 79496138-79496164, 79496198-79496203, 79496229-79496231, 79496357, 79503711-79503714, 79503791-79503793, 79503903, 79503914-79503915, 79503921, 79503958-79503979, 79503998-79504003, 79504018-79504033, 79504049, 79504075-79504080
328LPIN2180.989966555183952726912920315-2920316, 2923787-2923790, 2924434, 2924487, 2924496-2924506, 2924510, 2925272-2925278
329AFG3L2180.997076023391817239412337441, 12337453, 12377026, 12377039, 12377044-12377046
330NPC1180.9960906958561415383721152050-21152052, 21152111, 21153417, 21166268-21166273, 21166276-21166278, 21166284
331LAMA3180.935712857428516431000221269648-21269717, 21269768-21269778, 21399931, 21404513, 21456316, 21464775-21464783, 21464789-21464790, 21464795, 21478702-21478713, 21478798, 21478805-21478812, 21478943-21478951, 21478963, 21479017-21479029, 21479252-21479260, 21479341-21479347, 21479351-21479360, 21479410-21479419, 21481196, 21481201-21481203, 21481211-21481212, 21482981-21483019, 21483073-21483089, 21483902, 21483963-21483977, 21484026-21484051, 21484536-21484592, 21484607-21484658, 21485501-21485502, 21485505-21485507, 21485512-21485518, 21485533-21485579, 21487547-21487587, 21487729-21487735, 21487740-21487741, 21487784-21487823, 21487847-21487893, 21489206-21489247, 21489255-21489259, 21492765, 21494433-21494437, 21494809-21494812, 21513768
332DSC2180.996674057649679270628681903-28681910, 28681921
333DTNA180.9946236559139812223232455337-32455348
334LOXHD1180.999246534056665663644126970-44126971, 44127011, 44159633-44159634
335MYO5B180.999819722372451554747429022
336TCF4180.9920634920634916201652937062-52937067, 52946827-52946830, 53252520, 53252526-53252527, 53254294, 53254311-53254312
337FECH180.993023255813959129055221630, 55253796, 55253810-55253814, 55253851-55253852
338ATP8B1180.96458998935037133375655328443, 55328499-55328519, 55328586, 55328672, 55328676-55328682, 55328687, 55328692-55328694, 55329715-55329755, 55329810-55329819, 55334347-55334353, 55335674, 55338751-55338778, 55338807-55338812, 55359061, 55359079-55359080, 55359205, 55364852
339LMAN1180.9712981082844144153357016347, 57026263-57026295, 57026321-57026328, 57026408, 57026433
340TNFRSF11A180.9594813614262675185159992586-59992660
341CTDP1180.88530838530839331288677439948-77440217, 77440226-77440261, 77456014, 77456031-77456038, 77457969-77457976, 77474503-77474509, 77474622
342ELANE190.5771144278607340804852329-852332, 852337, 852374-852378, 852876-852895, 852905-852983, 852990-853032, 853262-853403, 855573, 855595, 855606, 855612, 855664-855677, 855983-855999, 856048-856049, 856068, 856078-856084, 856164
343KISS1R190.893901420217211271197917550, 918544-918595, 918602-918668, 920326, 920330, 920345, 920363-920366
344STK11190.3072196620583790213021206913-1206941, 1207019-1207049, 1207065-1207071, 1207148-1207168, 1218416-1218450, 1218470, 1218479-1218499, 1219323-1219412, 1220372-1220504, 1220580-1220716, 1221213-1221216, 1221227-1221339, 1221948-1221953, 1221966-1222005, 1222984-1223069, 1223087-1223160, 1223171, 1226473-1226474, 1226477, 1226505-1226528, 1226531, 1226534, 1226567, 1226604-1226646
345RAX2190.8972972972973575553770754-3770764, 3770884-3770891, 3771597-3771599, 3771613-3771647
346MAP2K2190.8703241895261815612034099226-4099246, 4101062, 4110551, 4110555, 4117423-4117447, 4117553-4117567, 4123781-4123872
347C3190.9270833333333336449926693486-6693490, 6697694-6697701, 6707087-6707111, 6707119-6707134, 6707155-6707179, 6707221-6707223, 6707240, 6707277-6707284, 6707833-6707835, 6709695-6709698, 6709704, 6709719-6709720, 6709772-6709780, 6709834-6709853, 6710735-6710737, 6713291, 6713301, 6713318-6713326, 6713490-6713520, 6714003-6714093, 6714199-6714252, 6714363-6714364, 6714373-6714414
348INSR190.989154013015184541497132169-7132172, 7293835, 7293842, 7293847, 7293850, 7293856-7293892
349STXBP2190.99943883277217117827707189
350TYK2190.9803591470258170356410488941-10488942, 10489015-10489082
351LDLR190.999612853271391258311200268
352PRKCSH190.998109640831763158711558341-11558343
353MAN2B1190.9967061923583710303612758339, 12758343, 12768891-12768898
354GCDH190.9764616552771531131713006841-13006870, 13006913
355CACNA1A190.95931392102114306752113318201, 13318237-13318240, 13318298-13318318, 13318365-13318395, 13318480, 13318487, 13318493-13318497, 13318516-13318570, 13318577, 13318602, 13318605, 13318637-13318735, 13318750-13318756, 13318799, 13318803-13318807, 13319622, 13319625, 13445208, 13476150-13476174, 13476200-13476206, 13476225, 13476229, 13476250-13476283, 13482532
356NOTCH3190.9830605799598118696615308326-15308332, 15311606-15311716
357JAK3190.9768888888888978337517940917-17940924, 17940934-17940936, 17940939-17940964, 17940981-17941015, 17941374, 17953161, 17953253-17953254, 17953259, 17953321
358SLC5A5190.999482401656311193218004664
359IL12RB1190.9622926093514375198918191686, 18191771-18191807, 18197570-18197606
360COMP190.92304309586631175227418896522, 18896525, 18896564-18896565, 18896845-18896858, 18898443, 18899101-18899126, 18899219-18899245, 18899314-18899323, 18899410-18899419, 18899460, 18899464, 18899473-18899487, 18899689, 18899996-18900000, 18900003-18900006, 18900024-18900025, 18900041-18900042, 18900080-18900096, 18900802-18900810, 18900814, 18901659-18901682, 18901686
361SLC7A9190.999316939890711146433333200
362CEBPA190.76880222841226249107733792755-33792770, 33792785-33792802, 33792851-33792873, 33792882, 33792915-33792925, 33792953-33793044, 33793132-33793160, 33793197-33793243, 33793289-33793292, 33793313-33793320
363SCN1B190.969021065675342580735521725-35521749
364MAG190.80967570441255358188135786329, 35786351, 35786541, 35786572-35786579, 35786878, 35790457-35790554, 35790568-35790607, 35790628-35790753, 35791071-35791129, 35791140-35791141, 35791198, 35793404-35793421, 35793479, 35802894
365TYROBP190.3746312684365821233936395511-36395515, 36398125-36398126, 36398129, 36398158-36398163, 36398354-36398422, 36398438-36398482, 36398632-36398664, 36399072-36399121, 36399130
366WDR62190.999562554680662457236579966, 36592627
367RYR1190.967983065423034841511738931395, 38931398, 38949951-38949959, 38951017, 38951043-38951052, 38951098-38951114, 38951135-38951163, 38951179, 38951196-38951205, 38951208-38951210, 38951213-38951216, 38951224-38951231, 38954063-38954128, 38954139-38954160, 38954387-38954393, 38954420-38954446, 38954479-38954482, 38955279-38955280, 38955329-38955330, 38956800, 38956803, 38956926-38956950, 38983147-38983149, 38983198-38983199, 38986865, 38987143, 38987151-38987154, 39037103-39037113, 39037155, 39037158, 39055611-39055620, 39055681-39055682, 39055736-39055742, 39055745, 39055749, 39055762, 39055784, 39055789-39055790, 39055834-39055843, 39055894-39055991, 39055994-39056035, 39056061, 39075616, 39075621, 39075703-39075733
368ACTN4190.9758771929824666273639138430-39138453, 39138493-39138534
369DLL3190.84060312331718296185739991255-39991279, 39993457-39993506, 39993533-39993539, 39993551-39993553, 39993560, 39993566-39993577, 39993591, 39993604-39993623, 39993626-39993629, 39993632, 39993661-39993667, 39993683, 39993691-39993697, 39994718, 39994721-39994725, 39994730-39994731, 39994793, 39994811-39994830, 39994850, 39994853, 39994873, 39994881-39994882, 39994892-39994893, 39994914-39994923, 39995915, 39995924-39995933, 39996025, 39996079, 39996082, 39997722-39997728, 39997731-39997735, 39997771-39997773, 39997868-39997894, 39998012-39998013, 39998025-39998026, 39998094, 39998099, 39998108-39998155, 39998625
370PRX190.9794801641586990438640902423, 40902837-40902843, 40903252, 40903256-40903259, 40903268-40903269, 40903272, 40903295-40903308, 40903311, 40903321, 40903392-40903432, 40903471-40903484, 40903569, 40903854, 40904697
371TGFB1190.9556692242114252117341854225-41854231, 41854320-41854337, 41858609, 41858868-41858876, 41858916-41858921, 41858934-41858944
372BCKDHA190.997757847533633133841928540, 41929004, 41930433
373ATP1A3190.999728113104951367842480572
374ETHE1190.8326797385620912876544011038-44011054, 44012096-44012142, 44012161-44012212, 44012949-44012959, 44015641
375BCAM190.84525702172761292188745312382-45312389, 45312408-45312458, 45315505, 45317502-45317506, 45317932-45317977, 45321781, 45321836-45321853, 45321856-45321858, 45321886, 45322082, 45322120-45322125, 45322392, 45322436-45322440, 45322443-45322447, 45322693-45322694, 45322743, 45322918-45322932, 45322948-45322955, 45322959-45322962, 45323971-45324018, 45324024-45324079, 45324173-45324178
376OPA3190.9963167587477254346032333, 46032427
377SIX5190.998648648648653222046269313, 46272041, 46272044
378DMPK190.93492063492063123189046281107, 46281856-46281870, 46281895-46281899, 46283040, 46283095, 46283107, 46283112, 46283115, 46285493-46285507, 46285510-46285511, 46285517-46285527, 46285533-46285553, 46285563-46285610
379CRX190.99777777777778290048337794, 48342794
380DBP190.962167689161553797849138863-49138864, 49138867-49138869, 49138900, 49138945, 49138948-49138954, 49139004-49139017, 49139055, 49139097-49139098, 49139106, 49139179-49139183
381BCAT2190.9609838846480146117949303001-49303021, 49303324-49303347, 49303477
382MYH14190.9952544591719829611150812945-50812973
383KCNC3190.386983289357961394227450823503-50823544, 50823553-50823556, 50823563-50823576, 50823582, 50823602-50823606, 50823918, 50826232-50826247, 50826264-50826644, 50826667-50826711, 50826753-50826754, 50826765-50826766, 50826914-50826920, 50827053, 50827065, 50827068, 50827277-50827306, 50827325, 50831470-50831484, 50831510-50831842, 50831848-50832339
384KLK4190.8274509803921613276551411905-51411910, 51411937, 51412061-51412083, 51412524, 51412526-51412580, 51412600, 51412603, 51412620-51412622, 51412626-51412642, 51412648, 51413934, 51413973-51413994
385NLRP12190.998744507219084318654304512-54304513, 54304524, 54304608
386PRKCG190.93218720152818142209454393001, 54393215, 54393221, 54393224, 54393260-54393270, 54401316-54401319, 54401703, 54401718, 54401722, 54401733-54401737, 54401816-54401873, 54404002-54404003, 54406352-54406361, 54406370, 54406387-54406389, 54409571-54409574, 54409596, 54409605-54409607, 54409612-54409617, 54409675-54409684, 54409974, 54410069-54410071, 54410081-54410090, 54410094, 54410122-54410123
387PRPF31190.80533333333333292150054621698, 54627140-54627142, 54627879, 54627888, 54627955-54627961, 54629949-54629992, 54631448-54631480, 54631524, 54631569-54631575, 54631694-54631743, 54632432-54632458, 54632520-54632522, 54632535, 54632647-54632665, 54632690-54632696, 54632705-54632745, 54634738-54634783
388TSEN34190.9967845659164393354695317, 54695349, 54695402
389NLRP7190.92260757867694241311455445030-55445034, 55445070-55445071, 55445998, 55447669-55447715, 55447725-55447775, 55449530-55449531, 55450425-55450428, 55450459-55450462, 55450511, 55450709, 55450718-55450757, 55450817, 55450938, 55450943, 55450947, 55450951-55450958, 55451198-55451204, 55451235-55451252, 55451270, 55451531-55451553, 55451587, 55451660, 55451710, 55452906-55452921, 55453020-55453021, 55453059
390TNNT1190.1736375158428465278955644283-55644328, 55645255-55645295, 55645434-55645524, 55648471-55648580, 55649329-55649361, 55649370-55649442, 55652253, 55652260-55652303, 55652309-55652328, 55652554-55652563, 55652596-55652601, 55652609-55652616, 55652625-55652645, 55652659-55652670, 55653229-55653258, 55657802-55657834, 55658049-55658075, 55658376-55658389, 55658494-55658525
391TNNI3190.436781609195434360955663228-55663260, 55665412-55665424, 55665428-55665430, 55665458-55665469, 55665492-55665533, 55665560-55665561, 55665564-55665566, 55666137, 55666155-55666198, 55667570-55667596, 55667629-55667700, 55668006-55668012, 55668418-55668501
392TPO20.9286224125624620028021481005-1481052, 1481223, 1520676, 1520685-1520724, 1544366-1544378, 1544397-1544398, 1544401, 1544411-1544495, 1546238-1546246
393KLF1120.9727095516569242153910183844-10183885
394MYCN20.9691756272401443139516082400, 16082404, 16082495, 16082566-16082601, 16082779-16082782
395OTOF20.690523857190521855599426684991-26684998, 26695430-26695454, 26695461-26695517, 26696045-26696055, 26696079-26696094, 26696097-26696103, 26696134-26696156, 26696333-26696342, 26696345, 26696348-26696351, 26696358, 26696366, 26696383, 26696386, 26696390, 26696393-26696402, 26696859-26696869, 26696887-26696970, 26697381-26697542, 26698239-26698296, 26698303-26698361, 26698782-26698866, 26698885-26698906, 26698996-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700617, 26702132-26702252, 26702341-26702521, 26703071-26703081, 26703093-26703131, 26703142-26703146, 26703153-26703163, 26703176, 26703654-26703657, 26703716-26703748, 26703751-26703754, 26703823, 26703838-26703848, 26703852, 26703866, 26705274-26705354, 26705360-26705367, 26705416, 26705429, 26705452, 26707435-26707461, 26707500-26707501
396ALK20.9940366029200129486329462578-29462589, 29462661-29462665, 29474021, 29474094-29474101, 29474121, 29541235, 29606637
397SRD5A220.99737532808399276231805880, 31805883
398SPAST20.980551053484636185132289148, 32289151-32289155, 32289197-32289226
399CYP1B120.9564950980392271163238298203, 38301972-38301996, 38302177, 38302229, 38302286-38302305, 38302393, 38302431-38302452
400SOS120.93078460769615277400239222517, 39224394-39224396, 39249716-39249722, 39249724-39249773, 39249793, 39249830-39249839, 39249845, 39249869, 39249925-39249948, 39249977-39250012, 39250093-39250097, 39250159-39250160, 39250172, 39250233-39250239, 39250242-39250245, 39250263, 39250293-39250301, 39281914, 39281946, 39283890-39283922, 39285814-39285840, 39285867-39285894, 39285945, 39294820-39294831, 39347477-39347480, 39347509-39347511, 39347524-39347525, 39347530, 39347552
401ABCG820.9767556874381847202244099133-44099137, 44099140-44099153, 44099187, 44099226-44099229, 44099425-44099440, 44100984, 44100998, 44102542-44102546
402LRPPRC20.986857825567555418544145165, 44176779, 44201035, 44201292-44201317, 44202253-44202270, 44204157-44204163, 44207041
403EPCAM20.979894179894181994547596645, 47596655-47596672
404MSH220.9775401069518763280547705428, 47705445-47705448, 47705568-47705570, 47705574-47705575, 47705579-47705593, 47707838-47707845, 47707871-47707896, 47708003, 47710051-47710053
405MSH620.95003673769287204408348010373-48010380, 48010409-48010448, 48010454-48010496, 48010507, 48010516-48010579, 48010588-48010596, 48010608-48010628, 48010631, 48030636-48030651, 48032757
406LHCGR20.9838095238095234210048982755-48982788
407NRXN120.9798870056497289442550280464-50280486, 50280540, 50280543, 50280546, 50280551, 50280688-50280725, 50850650, 51254983-51254991, 51255211-51255224
408EFEMP120.9898785425101215148256098009, 56102081-56102092, 56102095, 56103777
409FANCL20.997340425531913112858390595, 58390651, 58392865
410DYSF20.9889937106918270636071747939, 71747942-71747943, 71801436, 71801459, 71801462, 71829917-71829918, 71839906, 71840483, 71847680-71847739
411ALMS120.957293666026875341250473613025-73613037, 73746956, 73746965-73746975, 73747020-73747030, 73747054, 73747094-73747134, 73786106-73786109, 73786253-73786268, 73799431-73799435, 73799444-73799466, 73799510-73799512, 73799538-73799604, 73799624-73799648, 73799673-73799694, 73799724-73799727, 73799742-73799756, 73799764, 73799767-73799771, 73799797-73799821, 73799873, 73799879-73799908, 73799935-73799943, 73799946-73799954, 73799991-73800009, 73800059, 73800077, 73800096, 73800120-73800173, 73800213-73800246, 73800266-73800274, 73800328-73800345, 73800406, 73800466-73800487, 73800521-73800551, 73828342
412SLC4A520.999707088459291341474450068
413GGCX20.9934123847167315227785781425-85781426, 85781429, 85782694, 85783355-85783357, 85783363-85783366, 85787984, 85788523-85788525
414SFTPB20.9624781849912743114685890835-85890864, 85892730-85892731, 85895264-85895266, 85895270-85895273, 85895278-85895281
415REEP120.99339933993399460686564602-86564605
416EIF2AK320.997314234556859335188874283-88874287, 88926730-88926732, 88926750
417TMEM12720.99163179916318671796931082-96931087
418ZAP7020.92311827956989143186098340548-98340551, 98340557, 98340560-98340563, 98340588, 98340593-98340598, 98340614, 98340663-98340686, 98340713-98340736, 98340774-98340776, 98340804-98340877, 98341649
419CNGA320.997122302158276208598986530-98986535
420RANBP220.946253229974165209675109345588-109345589, 109345650-109345655, 109347317-109347341, 109347891, 109347929-109347930, 109352070-109352105, 109352185-109352191, 109352606-109352631, 109352698-109352705, 109357110-109357116, 109365376, 109365388-109365429, 109365547, 109367831-109367874, 109368008-109368052, 109368077, 109368423-109368450, 109369459, 109369479, 109369929-109369958, 109370372, 109370389, 109371385-109371402, 109371495-109371529, 109371632-109371634, 109371681, 109371685, 109374869-109374872, 109374901-109374918, 109378617, 109378648-109378651, 109383538-109383544, 109383729, 109383736, 109383842-109383876, 109383968-109383986, 109384628-109384669, 109388164-109388177
421NPHP120.9995083579154412034110922703
422MERTK20.961333333333331163000112656313-112656348, 112740437, 112740485, 112740490-112740499, 112779104-112779105, 112786034, 112786182, 112786186-112786204, 112786234, 112786255-112786268, 112786272-112786273, 112786285, 112786400-112786426
423BIN120.9994388327721711782127864502
424RAB3GAP120.97386286490156772946135848572-135848579, 135848653-135848662, 135848677-135848678, 135848684-135848686, 135848689-135848690, 135887570-135887591, 135888122-135888124, 135888191, 135888221, 135888261-135888276, 135888279-135888281, 135888284-135888285, 135891479, 135893345, 135893349, 135893372
425LCT20.99688796680498185784136558314-136558319, 136581513-136581524
426ZEB220.99588477366255153645145147178, 145274904-145274917
427NEB20.94102333032943117819974152342317, 152342370-152342379, 152346485-152346486, 152402512, 152432752-152432765, 152432781, 152432794-152432795, 152432818, 152466339, 152466345-152466354, 152466364-152466411, 152466437-152466465, 152466494, 152466537-152466570, 152466601, 152466607-152466634, 152467030, 152467045, 152467050, 152467070-152467078, 152467081-152467090, 152467109-152467137, 152467310-152467326, 152467347, 152467366-152467367, 152467372-152467380, 152468719, 152468786-152468903, 152470790-152470797, 152470810-152470924, 152470934-152471101, 152472527, 152472532-152472542, 152472550, 152472559, 152472564-152472565, 152473944, 152476028, 152476076, 152496441, 152496523-152496529, 152496560-152496574, 152496876, 152496913-152496949, 152497055, 152499104-152499128, 152499155, 152499168-152499195, 152499287-152499312, 152499318-152499319, 152499345, 152499351-152499358, 152499366, 152499370, 152499664-152499698, 152499713-152499735, 152499739-152499740, 152499747-152499749, 152499756-152499757, 152499790-152499835, 152500336-152500361, 152500394, 152500400-152500403, 152500417-152500424, 152500447-152500466, 152500509, 152500548-152500549, 152500556, 152500593-152500620, 152500640-152500643, 152501050, 152501064, 152501085-152501089, 152502658-152502662, 152502740-152502742, 152506697, 152506715, 152506746-152506795, 152507258-152507263, 152507289, 152507384-152507395, 152512694-152512697, 152512707-152512708, 152512958-152512962, 152512973-152512978, 152521096, 152531077, 152534217, 152534271, 152534278, 152534284-152534285, 152534614-152534615, 152536498, 152537282-152537287, 152541362, 152543975, 152548661, 152550886, 152563479
428CACNB420.99040307101727151563152711759-152711762, 152711803, 152954918-152954927
429ACVR120.93790849673203951530158622443, 158622514, 158622614, 158622635-158622675, 158630673, 158630676-158630688, 158634699-158634708, 158634772, 158634778, 158634790-158634791, 158636881-158636889, 158636945-158636956, 158637068-158637069
430SCN2A20.99800598205384126018166187886, 166187928, 166188049, 166211150-166211158
431GALNT320.96004206098843761902166606315-166606317, 166606322, 166611144-166611159, 166611175, 166611207, 166611507-166611544, 166613595, 166613598-166613609, 166616026, 166621483, 166627122
432SCN1A20.960480240120062375997166866331-166866334, 166868619-166868682, 166868692-166868741, 166868752-166868792, 166870254-166870273, 166870284, 166870337, 166870353-166870356, 166870368-166870377, 166870382-166870383, 166870386, 166872146-166872163, 166901660-166901667, 166905423-166905429, 166905432, 166908259-166908262, 166929900
433SCN9A20.9998314796090315934167089850
434ABCB1120.878466969238534823966169814542, 169820794-169820803, 169824937-169824941, 169824965-169824968, 169824990-169825000, 169825860-169825893, 169825974, 169825983, 169826008-169826023, 169826556-169826562, 169826599-169826632, 169826675-169826706, 169828369-169828397, 169828424-169828461, 169828488, 169828496-169828499, 169828509-169828547, 169830244, 169830259, 169830280-169830281, 169830308-169830350, 169833087-169833197, 169836376-169836379, 169836391-169836418, 169836421, 169836452-169836462, 169836487-169836489, 169853217, 169874613-169874621
435SLC25A1220.864997545409922752037172666179-172666196, 172671709-172671712, 172690473-172690536, 172691237-172691258, 172691269-172691295, 172691319-172691330, 172691353, 172691362-172691372, 172693642-172693646, 172693654, 172693748, 172693764-172693777, 172700912-172700913, 172700962-172700988, 172749715-172749768, 172750713-172750724
436ITGA620.99358974358974213276173356204-173356221, 173362721-173362723
437AGPS20.827516439049063411977178284997-178285086, 178299128-178299145, 178301492, 178301495-178301514, 178301535-178301583, 178301728-178301731, 178305693-178305705, 178305737-178305738, 178307135-178307136, 178307197-178307198, 178307210-178307212, 178326621-178326624, 178326638-178326641, 178333144-178333232, 178346850-178346862, 178346870-178346875, 178346886, 178346899-178346914, 178362483-178362485, 178378591
438TTN20.974283776234942578100248179472693, 179474466, 179510667-179510669, 179516448, 179517197, 179517252-179517268, 179523935, 179527751-179527778, 179542520, 179544677-179544678, 179549640, 179549661, 179549668-179549688, 179550324, 179552858, 179552889, 179552951, 179553450, 179553480, 179553804, 179554088, 179554283, 179554294-179554297, 179554305, 179554540-179554544, 179554584-179554586, 179556743-179556761, 179556764, 179556788-179556806, 179557271, 179558366, 179558384-179558390, 179558660, 179558681-179558710, 179559375-179559379, 179559613-179559620, 179559630, 179560075-179560097, 179560125-179560137, 179560624, 179560799-179560804, 179560858-179560870, 179567288-179567303, 179575363, 179575399, 179575565-179575583, 179575810, 179576695-179576698, 179577167-179577214, 179577277-179577280, 179577484-179577508, 179577683-179577689, 179577864-179577889, 179577944-179577982, 179578002-179578013, 179578062, 179578068-179578079, 179578653-179578669, 179578674-179578691, 179578695-179578702, 179578730, 179578739-179578742, 179578766-179578806, 179578833, 179578871-179578876, 179578880, 179578887, 179578890, 179579019-179579037, 179579109-179579110, 179579137-179579150, 179579163-179579194, 179579212, 179579243-179579278, 179579300, 179579713-179579794, 179579822, 179579829-179579967, 179579985, 179580220-179580501, 179581822-179581893, 179581917-179581923, 179581934, 179581957-179581960, 179581964, 179581988-179581990, 179581996-179581997, 179582013-179582042, 179582080-179582109, 179582250-179582260, 179582291-179582318, 179582347-179582394, 179582420-179582425, 179582430-179582450, 179582460, 179582537, 179582709-179582772, 179582796-179582797, 179582816-179582817, 179582935, 179583054, 179583071-179583072, 179583086-179583092, 179583115-179583116, 179583124, 179583142-179583168, 179583183, 179583193-179583210, 179583285, 179583324, 179583437, 179583484-179583485, 179583498-179583523, 179583555-179583578, 179583644-179583645, 179583657-179583662, 179583670, 179583693-179583696, 179583911-179583913, 179583967, 179584094-179584096, 179584173, 179584293, 179584773, 179584932-179584940, 179585128, 179585186-179585197, 179585796, 179587908, 179590562-179590564, 179592486, 179593763-179593767, 179595653, 179596099, 179596146-179596151, 179596685, 179596817, 179597275, 179597381, 179597618, 179597621, 179598416-179598444, 179598553, 179599135-179599143, 179629275, 179629278-179629281, 179629301, 179629398, 179629458, 179629461, 179629482, 179629486-179629487, 179631126, 179631211, 179632772, 179632785, 179633455-179633459, 179633462-179633464, 179633471, 179633483-179633514, 179633543-179633549, 179633576-179633622, 179634439-179634445, 179634450-179634461, 179634473, 179634483-179634490, 179634500-179634505, 179634544-179634582, 179634654-179634663, 179634837, 179634882-179634896, 179634950-179634956, 179635978, 179636004, 179636059-179636060, 179637861, 179637890-179637901, 179637927-179637940, 179638018, 179638073, 179638082-179638096, 179638192-179638195, 179638342, 179638345, 179638348-179638352, 179638615-179638619, 179638664, 179638802, 179638964-179638971, 179639187, 179639193, 179640192, 179640901, 179640912, 179640916-179640918, 179641249-179641255, 179641268, 179641370, 179641401-179641421, 179641503-179641508, 179641666-179641696, 179641951-179641963, 179642013-179642014, 179642204-179642211, 179642259, 179642567-179642602, 179643636-179643638, 179643646-179643648, 179643657, 179643748, 179644019-179644035, 179644145-179644152, 179644160, 179644181, 179647543-179647566, 179647690-179647691, 179648465-179648467, 179648471-179648477, 179649027, 179649051-179649058, 179650350-179650365, 179650575-179650601, 179650627-179650630, 179650684, 179650747-179650751, 179650754, 179650759-179650760, 179650804, 179654116-179654119, 179654214, 179654727-179654769, 179655478, 179658154-179658159, 179659151, 179659699, 179659767-179659775, 179659791-179659818, 179659826, 179659835, 179659840-179659843, 179659851-179659871, 179659906-179659923, 179659961-179659972, 179664263-179664265, 179664270-179664279, 179664284-179664289, 179664562, 179664614, 179665137-179665140, 179665143, 179665179-179665213, 179665331, 179665343, 179665378-179665409, 179666872, 179666882-179666886, 179666890, 179666920, 179666932, 179666946-179666971, 179666985
439CERKL20.99374609130707101599182468761-182468769, 182468803
440NEUROD120.9859943977591151071182542968-182542982
441COL3A120.854124062713026424401189849486-189849688, 189849923-189849973, 189850391-189850504, 189851785-189851865, 189852846-189852860, 189853316-189853354, 189853360-189853369, 189854122-189854136, 189854152-189854166, 189854863-189854875, 189855730-189855747, 189856428-189856438, 189856914, 189858997, 189860445-189860446, 189864202-189864221, 189867720, 189867743, 189868791-189868796, 189868836-189868837, 189872612-189872633, 189872636
442COL5A220.891111111111114904500189898805, 189899732, 189899736, 189901342, 189901370-189901410, 189901440-189901484, 189904046, 189904073, 189904076, 189904114-189904116, 189904161-189904163, 189904222, 189907937, 189907953-189907957, 189907968, 189907974-189907975, 189907978-189907984, 189909917-189909958, 189910526-189910558, 189910586, 189912935-189912967, 189912980-189912988, 189914088-189914094, 189914133, 189914136-189914143, 189914177-189914180, 189915319-189915325, 189915336-189915337, 189915344-189915396, 189915401-189915402, 189916100, 189916111, 189916119, 189916157-189916184, 189916202-189916203, 189916924-189916941, 189917647, 189917650-189917666, 189917670-189917671, 189917686, 189917743-189917744, 189918926-189918931, 189918934-189918935, 189918938, 189923162-189923202, 189925488-189925497, 189926304-189926311, 189927925, 189929345, 189969000-189969003, 189974952-189974958, 189974993-189974994, 189975006, 189975043-189975050, 189975071, 189975076-189975079, 189975118
443PMS120.97713469096106642799190682759-190682761, 190682766-190682770, 190708756-190708758, 190728723, 190732525-190732539, 190732559-190732588, 190738287, 190738362, 190738375, 190741999, 190742040, 190742095, 190742124
444MSTN20.92109929078014891128190922057, 190926952-190926993, 190927045-190927051, 190927105-190927114, 190927153-190927168, 190927310-190927322
445STAT120.97026187305814672253191859787-191859797, 191859874-191859897, 191873778, 191873810-191873833, 191874664-191874670
446HSPD120.91986062717771381722198351770-198351790, 198351825-198351867, 198352714, 198358078, 198358166-198358172, 198358176, 198358881-198358897, 198359408-198359454
447CASP1020.997450605481241569202074107-202074108, 202074111, 202082459
448CASP820.9987631416202821617202149613, 202149670
449ALS220.99457177322075274974202626178, 202626361, 202626368-202626370, 202626377, 202631978, 202633589-202633608
450BMPR220.99615014436959123117203332313-203332318, 203332339-203332341, 203332348, 203378484-203378485
451ICOS20.991666666666675600204820661-204820665
452NDUFS120.9958791208791292184207011713, 207017220-207017227
453FASTKD220.97796530707923472133207631638-207631670, 207631934, 207631937, 207632057-207632063, 207639102-207639106
454CPO20.96977777777778341125207804346, 207804362-207804364, 207814402-207814403, 207820219-207820246
455ACADL20.998453209590121293211081177, 211082822
456CPS120.939373750832782734503211421458-211421461, 211421518-211421523, 211421526, 211421545, 211421548, 211421563-211421583, 211452798, 211452852, 211455544-211455546, 211455567-211455585, 211456601, 211456641, 211459252-211459284, 211460261-211460262, 211460265, 211476951-211476954, 211503939, 211504773-211504783, 211507211-211507255, 211507388-211507389, 211513262-211513263, 211515114-211515136, 211518749-211518782, 211518785-211518787, 211518791-211518792, 211518810, 211521271-211521272, 211521281, 211521321-211521355, 211523390-211523396, 211527913, 211541773-211541775
457ABCA1220.999486389316947788215818609, 215823005, 215823123, 215865575
458SMARCAL120.9975567190226972865217329320-217329323, 217329378, 217340067, 217347586
459CYP27A120.9981203007518831596219647077-219647079
460OBSL120.943243718151473235691220416261-220416263, 220416277-220416292, 220416420-220416434, 220416834-220416861, 220416914, 220417289-220417297, 220417302, 220417313, 220417323, 220417370-220417371, 220417386, 220417398-220417409, 220417692-220417712, 220424035, 220435522, 220435572-220435607, 220435642-220435687, 220435696-220435703, 220435731-220435765, 220435862-220435938, 220435947-220435954
461COL4A320.99800518651506105013228134691-228134696, 228157935-228157938
462SLC19A320.9986586183769321491228563616-228563617
463UGT1A120.9993757802746611602234681086
464COL6A320.952171176840784569534238242128-238242130, 238242186, 238243315-238243317, 238244860-238244870, 238244893-238244913, 238244969-238244976, 238247663, 238247671, 238247736, 238249095-238249102, 238249162-238249177, 238249217-238249223, 238249298-238249315, 238249323-238249325, 238249532-238249536, 238249786, 238273023-238273026, 238273054, 238283336, 238287504-238287510, 238296707-238296713, 238303230-238303235, 238303256-238303281, 238303287, 238303299, 238303304-238303309, 238303349-238303401, 238303426-238303456, 238303471-238303519, 238303522-238303524, 238303533, 238303567-238303662, 238303709, 238303801-238303824, 238303829-238303830, 238303840, 238305370-238305393, 238305458-238305460
465D2HGDH20.909323116219671421566242707163, 242707185-242707224, 242707260-242707287, 242707305-242707371, 242707379-242707384
466C20orf54200.9992907801418411410744570
467AVP200.664646464646461664953063296-3063299, 3063322-3063371, 3063381-3063396, 3063418-3063423, 3063640-3063680, 3063694, 3063699, 3063716-3063753, 3063776-3063784
468PANK2200.8108581436077132417133869755-3869757, 3869807-3869820, 3869853-3869854, 3869861-3869873, 3869896-3869964, 3870018-3870064, 3870079, 3870095-3870102, 3870124-3870134, 3870137-3870142, 3870144-3870212, 3870226-3870243, 3870255-3870266, 3870279-3870282, 3870301-3870306, 3870344-3870375, 3888830-3888837, 3891314
469PRNP200.9908136482939677624680040, 4680064, 4680153, 4680435-4680438
470SNTA1200.86495388669302205151832031146-32031147, 32031150, 32031161-32031184, 32031205-32031263, 32031270-32031276, 32031305-32031351, 32031362-32031426
471SAMHD1200.996810207336526188135579844, 35579847-35579850, 35579896
472HNF4A200.9824561403508825142543052769-43052793
473ADA200.9010989010989108109243249735-43249749, 43251292, 43251539, 43251712, 43252843-43252860, 43252895-43252937, 43254291, 43254294-43254295, 43254298, 43255125-43255128, 43255133-43255135, 43255142-43255144, 43255150, 43257751-43257752, 43257760, 43257778-43257788
474CTSA200.995991983967946149744520238-44520243
475SALL4200.999683744465531316250418831
476VAPB200.919398907103835973256964516-56964573, 57014002
477GNAS200.967479674796752473857415184-57415207
478GNAS200.93577392421323200311457428482, 57428599-57428602, 57428834-57428840, 57429063-57429083, 57429272-57429273, 57429279, 57429337, 57429392-57429393, 57429531-57429538, 57429608-57429611, 57429642-57429700, 57429737-57429758, 57429814, 57429850-57429871, 57429886, 57429999-57430025, 57430049, 57430060, 57430374-57430388
479COL9A3200.971289537712959205561448426-61448428, 61448461-61448466, 61448470-61448479, 61453965, 61456329-61456332, 61456340-61456373, 61468571
480CHRNA4200.66772823779193626188461978116, 61978134, 61978189-61978196, 61981009-61981044, 61981054-61981073, 61981155-61981158, 61981243, 61981265-61981311, 61981330-61981331, 61981380, 61981400, 61981425-61981433, 61981441-61981442, 61981517, 61981536, 61981582-61981632, 61981644, 61981648-61981651, 61981663, 61981675-61981678, 61981686, 61981762-61981794, 61981863, 61981884, 61981977-61981983, 61982058, 61982066, 61982070, 61982295, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
481KCNQ2200.78465063001145564261962073763-62073770, 62073774-62073809, 62073828, 62073837-62073854, 62076012-62076037, 62076064-62076111, 62076133, 62076612-62076677, 62076704-62076717, 62078113-62078162, 62103521-62103816
482SOX18200.15930735930736971115562679526, 62679539-62679585, 62679612, 62679615, 62679620-62679627, 62679708-62679755, 62679778-62680069, 62680086-62680216, 62680232-62680315, 62680512-62680869
483APP210.99783830523135231327277358-27277362
484BACH1210.9561284486657697221130693750-30693799, 30699365, 30701923-30701925, 30715040, 30715043-30715046, 30715117-30715154
485IFNGR2210.9191321499013882101434775850-34775922, 34804521-34804524, 34805097, 34805116-34805118, 34805127
486RCAN1210.8577075098814210875935987059-35987072, 35987199-35987238, 35987247-35987300
487RUNX1210.9875259875259918144336164460-36164461, 36164464, 36164601, 36164610, 36259247, 36259382-36259393
488CLDN14210.4736111111111137972037833274-37833298, 37833320-37833355, 37833414-37833415, 37833424-37833429, 37833461-37833467, 37833474, 37833514-37833612, 37833636, 37833639, 37833647-37833648, 37833675-37833718, 37833778, 37833801-37833839, 37833863, 37833875-37833915, 37833921-37833993
489HLCS210.998624484181573218138309499-38309501
490TMPRSS3210.99926739926741136543805637
491CBS210.9921497584541113165644488626-44488638
492AIRE210.9841269841269826163845705988, 45712977, 45716275-45716298
493COL18A1210.93561253561254339526546876559, 46876571-46876577, 46876648-46876652, 46876656, 46876717, 46888195-46888209, 46899842, 46899857, 46900410, 46906796-46906830, 46906849-46906885, 46910189-46910193, 46910197, 46910212-46910215, 46910219-46910221, 46910224-46910225, 46910239-46910240, 46910247, 46910750-46910774, 46911160-46911193, 46911200-46911223, 46914477, 46915272-46915277, 46916992, 46923925-46923945, 46924398-46924401, 46924426-46924470, 46925067, 46925070, 46925173-46925192, 46925296-46925307, 46925312, 46925760-46925770, 46925835, 46925840, 46925849-46925853, 46931033, 46931038
494COL6A1210.91286038224814269308747401765-47401832, 47402548-47402553, 47402588-47402614, 47402632-47402656, 47402661-47402667, 47404189-47404196, 47404242-47404254, 47404337-47404354, 47404375-47404381, 47406440, 47406900-47406947, 47407418, 47407524-47407542, 47407546-47407554, 47407556, 47407558-47407563, 47410172-47410176
495COL6A2210.9820261437908555306047545976, 47546134, 47551873, 47551909, 47551996, 47552072, 47552078-47552082, 47552088-47552089, 47552268, 47552280-47552287, 47552341-47552359, 47552391, 47552401, 47552449, 47552456-47552466
496COL6A2210.868421052631584534247552268, 47552280-47552287, 47552341-47552359, 47552391, 47552401, 47552449, 47552456-47552468, 47552474
497FTCD210.60270602706027646162647556959-47556963, 47557209, 47557212-47557222, 47557227, 47558426, 47558473, 47558504, 47558507-47558527, 47558794-47558804, 47558817-47558820, 47558823-47558824, 47558828-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570080, 47570086-47570106, 47570139-47570150, 47570157, 47570316-47570321, 47570328, 47570383-47570392, 47570428-47570434, 47571472-47571479, 47571497-47571503, 47571562, 47571636-47571651, 47571824-47571831, 47571845, 47571865-47571877, 47572871, 47574072, 47574098, 47574111, 47574117, 47574120-47574132, 47574172, 47574181, 47574193-47574195, 47574198-47574202, 47574219-47574246, 47575421-47575427
498PCNT210.8558585555888514431001147783708, 47786622-47786623, 47787045-47787049, 47801685, 47801690-47801691, 47801701-47801709, 47801714-47801722, 47805789, 47805811-47805824, 47805875-47805888, 47808717, 47808735, 47808739, 47809206, 47809331-47809332, 47811101-47811102, 47817183, 47817191, 47817194-47817200, 47817203-47817211, 47817243-47817251, 47817286-47817322, 47817928-47817970, 47818149-47818159, 47819504-47819588, 47819594-47819710, 47821465-47821519, 47821531-47821635, 47822245-47822251, 47822279, 47822284-47822287, 47822290-47822293, 47822296-47822316, 47822319-47822320, 47822327, 47822340-47822397, 47831103-47831109, 47831125-47831131, 47831170-47831183, 47831231-47831235, 47831250-47831253, 47831260-47831282, 47831298-47831328, 47831354-47831365, 47831370-47831374, 47831405-47831418, 47831449-47831452, 47831470-47831480, 47831483-47831526, 47831531-47831548, 47831603-47831610, 47831652, 47831655-47831657, 47831664, 47831679, 47831687-47831714, 47831725, 47831728-47831730, 47831764-47831778, 47831784, 47831797, 47831831-47831885, 47831904-47831905, 47831926, 47831929, 47831932-47831935, 47831940-47831947, 47831959, 47831975, 47832751-47832792, 47832811, 47832820-47832861, 47832866, 47832886-47832888, 47832891-47832893, 47836021, 47836113-47836127, 47836130-47836131, 47836184-47836196, 47836227-47836258, 47836284, 47836289-47836292, 47836374, 47836395-47836443, 47836456-47836502, 47836510-47836546, 47836557, 47836563-47836570, 47836574, 47836589-47836590, 47836622, 47836653, 47836666-47836727, 47838209-47838212, 47841901-47841919, 47841930-47841932, 47841938, 47841941-47841951, 47841980-47841983, 47842034-47842038, 47845849-47845851, 47848368-47848369, 47848439-47848470, 47849930, 47849939, 47850128, 47851591-47851596, 47851834
499PRODH220.9556295063782680180318905931-18905937, 18923535-18923588, 18923701, 18923704, 18923727, 18923730-18923742, 18923745, 18923777, 18923788
500GP1BB220.1288244766505654162119711378-19711381, 19711408-19711422, 19711428-19711489, 19711495-19711504, 19711525-19711818, 19711824-19711979
501TBX1220.90322580645161144148819748428-19748571
502HPS4220.9910037878787919211226853837, 26853905, 26860018-26860034
503CHEK2220.88415672913118204176129083959-29083965, 29085135-29085171, 29090020-29090024, 29091737-29091750, 29091837-29091844, 29115407, 29115413, 29121096, 29121099, 29121276-29121283, 29121286, 29126411-29126514, 29126522-29126536, 29130487
504NF2220.998881431767342178830035193-30035194
505DRG1220.942934782608763110431796606-31796624, 31796680-31796687, 31799061, 31806998-31807025, 31807056-31807062
506LARGE220.9837076177895237227133733640-33733645, 33733649, 33733652, 33733679-33733684, 33733688, 33733754-33733775
507TRIOBP220.93195266272189483709838119742, 38119753-38119754, 38119759, 38119766-38119767, 38119798-38119804, 38119829-38119862, 38119891-38119921, 38119948-38119982, 38120008-38120052, 38120123-38120129, 38120150-38120178, 38120192-38120199, 38120297-38120345, 38120426-38120450, 38120560-38120566, 38120665-38120679, 38120704-38120743, 38120764-38120810, 38120837-38120869, 38120897-38120941, 38120962-38120968, 38121561-38121570, 38121920, 38122449-38122450
508ADSL220.9608247422680457145540745934-40745938, 40750275-40750278, 40757342-40757344, 40757511, 40760354-40760365, 40760954, 40760960-40760970, 40761041-40761060
509EP300220.9969634230503822724541523491-41523499, 41537089, 41574206-41574217
510TNFRSF13C220.6594594594594618955542322150, 42322161-42322171, 42322249, 42322259-42322334, 42322642-42322687, 42322702-42322709, 42322732-42322777
511CYB5R3220.99448123620309590643027388, 43027422-43027425
512ATXN10220.91316526610644124142846067944-46068059, 46085773-46085779, 46098619
513TRMU220.999210110584521126646731736
514MLC1220.9717813051146432113450502467-50502494, 50502593-50502595, 50508972
515TYMP220.79365079365079299144950964255-50964347, 50964430-50964472, 50964495-50964570, 50964675-50964701, 50964709-50964711, 50964737, 50964767, 50964795-50964804, 50964831-50964839, 50964845-50964846, 50964853, 50964860-50964862, 50965071, 50965131-50965155, 50965643, 50967678-50967680
516SHANK3220.765255530129671231524451113070-51113132, 51113476-51113679, 51115098-51115101, 51115106-51115114, 51117013-51117047, 51117099-51117103, 51117116-51117121, 51117222-51117344, 51117447-51117478, 51117488-51117497, 51117521-51117546, 51117556-51117608, 51117740-51117760, 51117769-51117856, 51121768-51121845, 51123013-51123032, 51123038-51123079, 51133329-51133337, 51135694-51135719, 51135951-51136143, 51144569-51144570, 51158762-51158764, 51158811-51158812, 51158824-51158862, 51158894-51158935, 51158949-51158975, 51159024-51159040, 51159071-51159077, 51159198-51159208, 51159287, 51159291, 51159299, 51159321-51159330, 51159406-51159425, 51159457
517SUMF130.99911111111111111254508922
518FANCD230.953125207441610081003, 10085168-10085170, 10103835-10103870, 10106473-10106479, 10106529-10106535, 10107078-10107093, 10107165-10107171, 10107587, 10123030-10123039, 10130192-10130194, 10131990, 10131993-10132016, 10132032, 10132059, 10132069, 10135974, 10136017, 10138020-10138044, 10138075, 10138096-10138114, 10140420, 10140438-10140476, 10140509
519VHL30.8333333333333310764210183593-10183594, 10183608, 10183625-10183633, 10183653-10183689, 10183706-10183744, 10183763, 10183774-10183775, 10183778-10183779, 10183806, 10183824, 10183853-10183859, 10183867-10183871
520TSEN230.999284692417741139812544783
521THRB30.9971139971144138624169216-24169219
522TGFBR230.9831365935919130177930648410-30648418, 30648455-30648469, 30732949-30732954
523GLB130.87708947885939250203433087612, 33087616-33087655, 33087660-33087674, 33087686, 33087711-33087715, 33087721, 33093380-33093409, 33099607, 33099672-33099678, 33106957, 33106960-33106961, 33106965, 33106972, 33107020-33107034, 33110331-33110356, 33110379-33110390, 33114066-33114071, 33114106-33114133, 33114189, 33138503-33138558
524CRTAP30.9560530679933753120633155742, 33155754, 33155777-33155778, 33155905-33155912, 33155991, 33165922-33165929, 33171506-33171518, 33171558-33171559, 33174147-33174156, 33175737-33175743
525SCN5A30.9920190185090847588938592068, 38592638-38592651, 38607932-38607962, 38608007
526TMIE30.99363057324841347146751074-46751076
527TREX130.84144144144144176111048508027-48508050, 48508100, 48508103-48508128, 48508134, 48508170, 48508175, 48508186-48508188, 48508202, 48508227-48508249, 48508283, 48508291-48508292, 48508295-48508301, 48508340-48508342, 48508435-48508442, 48508481-48508513, 48508673-48508675, 48508684-48508685, 48508690, 48508714-48508721, 48508773, 48508780, 48508799, 48508802, 48508810, 48508841, 48508900, 48508905-48508913, 48508916, 48508919, 48508924-48508925, 48508935, 48508941, 48508944-48508947, 48508975
528COL7A130.9961516694963234883548612815, 48613092-48613104, 48613718-48613729, 48625266, 48626860, 48627109, 48627113-48627115, 48627119, 48627140
529LAMB230.98091532332777103539749160279-49160285, 49162462-49162463, 49162812-49162815, 49162886-49162889, 49162896-49162902, 49167762-49167784, 49167822, 49167832, 49168434-49168447, 49168471, 49169009, 49169063-49169065, 49169070, 49169111-49169143, 49169622
530TKT30.9823717948717933187253289900-53289932
531FLNB30.98719426302984100780957994340-57994341, 57994424-57994467, 57994479-57994485, 57994518-57994564
532ATXN730.88195912614517335283863898282, 63898292-63898599, 63898833-63898858
533MITF30.994881637875888156369928358, 69928419-69928421, 69928486-69928488, 70005628
534PROK230.9974358974359139071834152
535ROBO230.86922890983805541413777089939-77089945, 77572004, 77572010-77572016, 77595566-77595573, 77600026-77600027, 77600137, 77607154, 77611808, 77611823, 77611828, 77612333, 77612367, 77612412, 77614215-77614239, 77617543, 77617546-77617564, 77623652-77623680, 77623701, 77623707-77623712, 77623738-77623742, 77623754-77623760, 77623786, 77623789-77623801, 77623811, 77623856-77623861, 77623869-77623881, 77626673-77626678, 77626720-77626729, 77626740-77626749, 77626752-77626753, 77629168-77629189, 77629214-77629227, 77629255-77629269, 77637902, 77637904-77637919, 77637957, 77637985-77637986, 77637991-77637998, 77638004, 77638008, 77638037, 77638080-77638084, 77644328-77644331, 77645799-77645805, 77645808, 77645828, 77645856-77645888, 77666664-77666666, 77666843-77666845, 77666872, 77671421-77671437, 77671461-77671489, 77671495, 77671544-77671578, 77684043-77684086, 77684110-77684116, 77684182-77684194, 77693855-77693862, 77693889-77693913, 77693920, 77693998-77694028, 77695205-77695206
536GBE130.980085348506442210981627131-81627160, 81635277, 81640232, 81643059-81643063, 81643077, 81643164-81643167
537PROS130.9783357951747944203193595917, 93595920, 93595930, 93598007-93598013, 93605199-93605205, 93617343, 93617388-93617413
538ARL13B30.82439782439782226128793761859-93762084
539CPOX30.9714285714285739136598304496-98304499, 98312145-98312154, 98312187-98312194, 98312267-98312283
540HGD30.911061285500751191338120347227, 120347270-120347271, 120352155-120352158, 120357401-120357413, 120365883-120365899, 120393771-120393772, 120393827-120393834, 120394639-120394710
541IQCB130.99220923761825141797121489389-121489402
542CASR30.97683039851715753237122000983, 122003075-122003100, 122003255-122003267, 122003504, 122003511, 122003523-122003535, 122003589-122003602, 122003626-122003628, 122003685, 122003747, 122003769
543ATP2C130.945614035087721552850130686202, 130688151, 130698102, 130698130, 130698133-130698135, 130698139, 130698147, 130698179, 130698182-130698192, 130698200-130698206, 130698227, 130698231, 130698244-130698250, 130699437-130699475, 130699497-130699507, 130715607-130715618, 130716548-130716556, 130718371, 130718382-130718427
544NPHP330.957926371149511683993132407734-132407735, 132409372, 132418244-132418269, 132418783-132418784, 132420288-132420294, 132423127, 132423186-132423200, 132431989, 132435666, 132440916-132440918, 132440923-132440934, 132440991-132440995, 132441000-132441038, 132441049-132441079, 132441088, 132441121-132441132, 132441135-132441138, 132441158, 132441168, 132441178-132441180
545FOXL230.992042440318391131138664876-138664884
546PLOD230.821695212999564062277145794682, 145795696-145795704, 145797006-145797009, 145799546-145799570, 145799608, 145799627-145799650, 145802975, 145803014-145803033, 145803048, 145804574-145804608, 145804615-145804674, 145804686-145804695, 145806373-145806387, 145806405-145806424, 145806463-145806483, 145806495, 145809587-145809624, 145809669-145809678, 145809682, 145878668-145878776
547GFM130.9968971631205772256158362441, 158383236, 158383241-158383245
548IFT8030.99398625429553142328160018806, 160037674-160037676, 160093660-160093664, 160095328, 160099446, 160099457-160099458, 160099463
549BCHE30.97457158651189461809165491170-165491173, 165491198-165491224, 165503933-165503946, 165548804
550PDCD1030.9796557120500813639167402138, 167402145, 167413384-167413394
551PLD130.99410852713178193225171404506, 171404565-171404578, 171405175, 171405291-171405293
552GHSR30.9945504087193561101172166125-172166130
553SOX230.976939203354322954181430190, 181430209-181430210, 181430221, 181430229, 181430262-181430268, 181430314-181430317, 181430358, 181430369, 181430434, 181430472, 181430691, 181430696
554MCCC130.96556473829201752178182737918-182737920, 182737928-182737930, 182740205-182740227, 182740245-182740247, 182740284, 182740330-182740342, 182759395-182759411, 182759447, 182759459, 182759475, 182759495, 182759525, 182759533, 182759538, 182763311-182763314, 182804526
555EIF2B530.99445983379501122166183853357-183853368
556TP6330.999021047479222043189526283-189526284
557CLDN1630.88997821350763101918190105942, 190105951, 190105976, 190105980-190106012, 190106015-190106020, 190106025, 190106028-190106029, 190106045-190106049, 190106057, 190106062-190106065, 190106072-190106090, 190106101, 190106128, 190106164-190106188
558CCDC5030.9986197377501721449191047492, 191087812
559IDUA40.743119266055055041962980886-980887, 980893, 980897, 980904, 980940, 980961, 994753-994760, 995651, 995811-995825, 995880-995907, 995926-995930, 995947, 996101-996108, 996215-996217, 996220-996223, 996252-996273, 996531-996553, 996559-996679, 996694-996697, 996713-996732, 996824-996860, 996867-996890, 996893-996945, 997142-997147, 997158-997208, 997224-997253, 997377-997404, 997858, 998161-998164
560FGFR340.9192418623815419624271795662-1795665, 1800981-1800994, 1801009, 1801132-1801134, 1801186, 1801200-1801207, 1803347-1803361, 1803407-1803413, 1803459, 1806140-1806167, 1806552, 1806644-1806664, 1806676-1806681, 1806686-1806696, 1807320-1807350, 1807369-1807376, 1808336-1808342, 1808570-1808589, 1808627, 1808658, 1808890-1808893, 1808951-1808953
561HTT40.9818644607063317194293076553-3076554, 3076574-3076580, 3076607-3076699, 3076707-3076771, 3133092-3133094, 3162056
562DOK740.941914191419148815153494600, 3494632, 3494767-3494799, 3494841-3494852, 3495018-3495034, 3495060-3495082, 3495095
563DOK740.85786802030457845913494600, 3494632, 3494767-3494799, 3494841-3494852, 3495018-3495034, 3495060-3495079
564EVC240.984975808505225939275710027-5710055, 5710072-5710093, 5710189, 5710211, 5710217-5710221, 5710225
565EVC40.9321920107418620229795713108-5713113, 5713156-5713202, 5713235-5713276, 5735078-5735080, 5735085, 5754647-5754684, 5754717, 5754727-5754729, 5754734-5754735, 5754739, 5755521-5755542, 5755619-5755654
566SLC2A940.99691928527418516239982330, 9982349-9982352
567CC2D2A40.9891013777503653486315504445, 15504532-15504546, 15516442, 15529112-15529118, 15529209, 15529212, 15529239-15529240, 15530300-15530308, 15534844-15534856, 15591198-15591200
568PROM140.9946112394149314259815993928-15993941
569QDPR40.99183673469388673517503433, 17503442, 17503448-17503450, 17513665
570ENAM40.9501312335958171342971497419-71497442, 71497608, 71498368-71498378, 71500044-71500069, 71500097-71500098, 71500102-71500110, 71500161-71500202, 71500246-71500266, 71501577-71501611
571SLC4A440.99726027397269328572306420-72306426, 72306434, 72423467
572ALB40.998907103825142183074270071-74270072
573COQ240.9956709956715115584185475-84185479
574CDS140.9300144300144397138685530582-85530616, 85530639-85530647, 85555017-85555065, 85556417, 85560082-85560084
575PKD240.96216030271758110290788928900-88928902, 88928919-88928946, 88928949-88928952, 88928965-88928972, 88928982-88929010, 88929020-88929027, 88929064-88929079, 88973289-88973302
576MTTP40.9988826815642532685100516022, 100516036, 100521735
577MANBA40.9984848484848542640103557056-103557058, 103557077
578CISD240.9387254901960825408103808498-103808522
579TACR340.914163090128761201398104510850-104510869, 104510944-104510950, 104512644-104512652, 104512678, 104512693-104512699, 104512725-104512733, 104512767-104512770, 104512776-104512836, 104512840, 104640783
580CFI40.98744292237443221752110723071-110723075, 110723102-110723118
581GAR140.68501529051988206654110737530-110737534, 110739155, 110739170, 110739184-110739185, 110740157-110740167, 110740195-110740216, 110743503-110743533, 110743542, 110743572-110743625, 110745121-110745186, 110745576-110745587
582ANK240.994020549098877111874114153358, 114158199-114158202, 114176928, 114176986-114177016, 114179469-114179474, 114179528-114179533, 114238933, 114260383, 114262944, 114264252-114264266, 114279924-114279927
583BBS740.96135940409683832148122749361, 122749388-122749390, 122754386-122754390, 122754395-122754402, 122754442-122754454, 122754464, 122756327-122756335, 122760786-122760787, 122766735, 122766738, 122775890-122775893, 122775921, 122776650-122776659, 122776687-122776694, 122780289-122780294, 122782698, 122782725-122782732, 122782834
584MFSD840.9800899165061311557128878659-128878686, 128878719-128878720, 128878747
585NR3C240.909644670050762672955149073711-149073712, 149073715-149073722, 149073729, 149075703, 149075716-149075797, 149075822-149075842, 149075865-149075889, 149075922, 149075925-149075945, 149075961-149076043, 149356266, 149356274-149356275, 149356332, 149356506-149356509, 149356605, 149356736, 149356739, 149357005, 149357144-149357145, 149357155-149357161, 149357475
586FGB40.96341463414634541476155484227-155484256, 155488814-155488830, 155488913, 155489592-155489594, 155489629-155489631
587FGA40.9992310649750122601155507782, 155508676
588CTSO40.982401656314717966156849569, 156860582-156860586, 156863504, 156863538-156863541, 156864404-156864408, 156874951
589GLRB40.95113788487282731494157999220-157999223, 157999258-157999275, 158057699, 158057752, 158059961-158059970, 158059976-158059977, 158060086, 158060091, 158091671-158091689, 158091693, 158091783, 158091855, 158091860-158091862, 158091866-158091875
590GK40.891696750902531801662166199165, 166199219-166199240, 166199349, 166199361, 166199389-166199390, 166199429, 166199515, 166199561, 166199584-166199605, 166199612-166199648, 166199723-166199729, 166199850, 166199950, 166199991, 166200008-166200009, 166200012-166200013, 166200016-166200017, 166200021, 166200028, 166200063, 166200115-166200141, 166200189-166200195, 166200321-166200335, 166200361, 166200401, 166200414, 166200450, 166200507, 166200579-166200595, 166200783
591SLC25A440.991081382385738897186064630-186064637
592SDHA50.863659147869672721995218497-218505, 218509-218516, 223682-223683, 224475, 233592-233598, 251107-251115, 251140-251218, 251500-251546, 251562-251569, 251583, 254508-254532, 254569-254575, 254606-254621, 256468-256489, 256505-256535
593SLC6A1950.8839895013123422119051201766-1201857, 1201876-1201907, 1201917, 1201922-1201925, 1201929-1201967, 1212488-1212494, 1213583-1213599, 1213612, 1213625-1213647, 1213672-1213675, 1213683
594TERT50.64813180347161119633991254529-1254535, 1258713-1258736, 1264519-1264526, 1264557, 1264568-1264572, 1264582, 1264602-1264603, 1264633, 1264655, 1264677-1264683, 1266580-1266590, 1266595, 1266616-1266634, 1268635-1268714, 1268725, 1268732, 1268740-1268748, 1271234-1271319, 1272300-1272395, 1278778-1278819, 1278844, 1278877-1278878, 1278884, 1278887, 1279417-1279444, 1279468-1279533, 1279567-1279585, 1280281-1280303, 1280311-1280328, 1280332-1280336, 1280339, 1280370-1280371, 1280373-1280389, 1280440-1280449, 1293488, 1293598-1293604, 1293634-1293694, 1293728-1293748, 1293802-1293806, 1293892-1293923, 1293976-1293982, 1294086, 1294141-1294186, 1294201, 1294217-1294220, 1294311-1294341, 1294400-1294407, 1294416-1294418, 1294556, 1294570-1294618, 1294633-1294639, 1294645-1294763, 1294886-1294953, 1294961-1295041, 1295050-1295051, 1295061-1295104
595SLC6A350.6446591519055366218631403161-1403181, 1406333-1406335, 1406348-1406372, 1406388, 1409148-1409240, 1409836-1409852, 1409856, 1409879-1409880, 1409926-1409930, 1409947, 1409954-1409956, 1411370, 1411384, 1411397-1411402, 1411408-1411421, 1411444-1411470, 1414806-1414930, 1416213-1416270, 1416281, 1416290-1416311, 1420684-1420743, 1420783-1420818, 1421991-1422129
596SDHA50.96330275229358123271589424-1589435
597MTRR50.9159779614325118321787869254-7869302, 7870883-7870889, 7870923, 7870935-7870942, 7870967, 7870973, 7871003-7871005, 7873486-7873488, 7873504, 7873521-7873549, 7873567-7873568, 7873580-7873587, 7873624-7873638, 7875389-7875391, 7875406, 7878088-7878094, 7878100-7878106, 7878145, 7878249-7878256, 7878320-7878327, 7878332-7878336, 7878392-7878404, 7878418, 7883342
598DNAH550.935567567567578941387513708281, 13708296-13708297, 13708359-13708366, 13708405-13708418, 13708422, 13708425-13708428, 13714542-13714584, 13714616-13714623, 13714693-13714702, 13714714, 13714729, 13716597-13716610, 13716645-13716652, 13716712-13716731, 13716743, 13716755, 13716795-13716799, 13717424-13717513, 13717519-13717629, 13719040-13719050, 13719068-13719084, 13719089, 13719106-13719155, 13719183-13719204, 13721109-13721130, 13721154, 13721182-13721273, 13721288-13721293, 13721304, 13721309, 13721344, 13721354, 13735261-13735290, 13735333, 13735347-13735348, 13735353-13735354, 13735362, 13735383, 13735388-13735395, 13735927-13735951, 13735973-13735975, 13736017-13736018, 13737401-13737409, 13737421-13737504, 13737517-13737522, 13737591-13737596, 13751193-13751228, 13752381, 13753445, 13753448-13753452, 13753480-13753519, 13753609-13753628, 13754312-13754330, 13862726-13862732, 13865997, 13871697-13871704, 13922321-13922327
599ANKH50.9905341446923614147914758639, 14871544-14871556
600SLC45A250.999372253609541159333984585
601AMACR50.9477806788511760114933998753-33998777, 34007913-34007917, 34007928-34007934, 34007995-34008017
602NIPBL50.92644087938206619841536962350-36962356, 37002841, 37002864, 37003403-37003404, 37006459-37006486, 37006627-37006633, 37007502, 37007541, 37008183-37008190, 37008824-37008825, 37014806, 37024723, 37036481-37036492, 37036505-37036528, 37036547-37036548, 37036561-37036589, 37038775, 37038798, 37038804-37038814, 37038824-37038835, 37038840, 37044480, 37044503-37044541, 37044575-37044589, 37044768-37044806, 37044821-37044831, 37045545-37045546, 37045616, 37045660, 37045670-37045678, 37046211, 37046253, 37048634-37048682, 37048688-37048690, 37048752, 37048768, 37048771-37048777, 37049221, 37049262, 37049265, 37049372-37049382, 37049387-37049391, 37051907, 37051958-37051965, 37052471-37052501, 37052650-37052668, 37057390-37057396, 37058993-37058994, 37059080-37059091, 37059142-37059148, 37059267, 37061060-37061062, 37061065-37061072, 37061077, 37061098-37061100, 37061103-37061120, 37063894-37063895, 37063918-37063924, 37063965, 37064004-37064064, 37064068, 37064699, 37064709-37064748, 37064810, 37064834, 37064922-37064951
603LIFR50.90710382513661306329438490393, 38502811, 38502817-38502840, 38502843, 38504131, 38504178-38504182, 38506013-38506044, 38506090-38506145, 38506154, 38506162, 38506168-38506172, 38506685-38506686, 38506689-38506701, 38506721-38506734, 38510734-38510746, 38510777-38510783, 38511892-38511906, 38511967-38511985, 38512058-38512066, 38523638-38523651, 38523654-38523663, 38527299, 38527320-38527325, 38530608, 38530620-38530666, 38530737-38530743
604OXCT150.9936020473448510156341794114, 41805772-41805774, 41807502-41807507
605FGF1050.99840510366826162744388518
606ITGA250.9861816130851749354652285305-52285347, 52351443-52351444, 52351860-52351863
607MOCS250.975308641975311456752397304-52397317
608ERCC850.9605373635600347119160183268-60183273, 60186787, 60194133, 60199475-60199477, 60200636-60200669, 60217922, 60217927
609NDUFAF250.917647058823534251060394819-60394859, 60448777
610MARVELD250.998807394156232167768728486, 68728777
611SMN250.942372881355935188569345527-69345542, 69362945-69362961, 69363121-69363137, 69363238
612SMN250.941242937853115288570220945-70220960, 70238369-70238385, 70238545-70238561, 70238662, 70247773
613MCCC250.988770685579219169270883338-70883339, 70888777, 70898395-70898409, 70922498
614HEXB50.86355475763016228167173981086-73981200, 73981206-73981235, 73981245, 73981249-73981251, 73981261-73981281, 73981285-73981333, 73981377-73981384, 73992846
615AP3B150.986910197869143328577424945, 77425028, 77425077-77425116, 77477384
616ARSB50.9868913857677921160278280783-78280790, 78280943-78280954, 78281058
617VCAN50.965655970954763501019182779348-82779387, 82785917-82785918, 82785987, 82785993-82786005, 82786019-82786041, 82786103, 82786144-82786158, 82786174-82786212, 82786219-82786255, 82789454, 82789465, 82789532, 82789734-82789741, 82808082, 82816647, 82817877-82817884, 82818098-82818099, 82818111-82818117, 82818125, 82833059, 82833220-82833224, 82833827-82833832, 82833838, 82834330-82834332, 82834855, 82837723, 82868235-82868240, 82868253, 82868335-82868337, 82875800, 82875820, 82875836-82875873, 82875877-82875878, 82875900-82875905, 82875941-82875948, 82875956-82875957, 82875971-82875973, 82876140-82876173, 82876185, 82876193-82876216
618GPR9850.99619470429681721892189910724-89910727, 90020731-90020737, 90025484-90025488, 90106119-90106131, 90106526, 90106709-90106727, 90106782, 90111512-90111513, 90119384-90119386, 90136526-90136528, 90136711-90136713, 90144604, 90144607, 90398038, 90398075-90398080, 90398091, 90398095
619WDR3650.96953781512605872856110432800-110432809, 110436307, 110436376-110436379, 110438044-110438078, 110439538, 110439541-110439551, 110439554-110439555, 110440038, 110440468-110440471, 110440495-110440502, 110441776-110441777, 110441782, 110445953-110445954, 110446513, 110448825-110448827, 110454773
620APC50.99507735583685428532112116487-112116509, 112116526, 112116588, 112128190-112128202, 112157640-112157643
621HSD17B450.953414744459521032211118813133, 118813162, 118814640-118814681, 118824899-118824924, 118829513-118829521, 118829605-118829627, 118835182
622LMNB150.834185122089722921761126113201-126113247, 126113255-126113299, 126113306-126113341, 126113348-126113424, 126113436-126113438, 126113445-126113450, 126113458-126113486, 126113504-126113522, 126113541-126113559, 126154694-126154704
623FBN250.951710722050584228739127597428-127597431, 127597452, 127599202, 127599206-127599229, 127607770-127607773, 127607776-127607777, 127609535-127609552, 127609555, 127609579-127609624, 127609647-127609660, 127610290-127610333, 127610358-127610360, 127611752-127611780, 127611807-127611815, 127613572-127613574, 127613595, 127613616-127613643, 127614336, 127614363, 127614366-127614367, 127614373-127614375, 127614427-127614428, 127614432, 127614454, 127614458-127614515, 127614520, 127615945-127615951, 127636529, 127636554-127636560, 127636563-127636564, 127638683, 127645028, 127645090-127645091, 127654579-127654582, 127654594, 127664421, 127664497, 127666349, 127668615, 127668618-127668629, 127670522, 127670968-127670973, 127671235-127671259, 127671698, 127671771-127671805, 127674637-127674639, 127674642-127674643, 127674646, 127674739-127674742
624TGFBI50.9970760233918162052135388663, 135389654, 135392376, 135396523-135396524, 135397235
625MYOT50.9993319973279911497137221859
626MATR350.9968553459119582544138643117, 138643120-138643121, 138643124, 138643133, 138643543-138643545
627DIAPH150.99581042157633163819140913969, 140915628, 140953075-140953078, 140953564-140953566, 140958709, 140960420-140960424, 140963694
628SPINK550.965296803652971143285147466042, 147473924, 147477551, 147477556-147477557, 147499579-147499593, 147499871-147499948, 147503523, 147505305-147505314, 147506611, 147510866-147510869
629GLRA150.9949053857350871374151208499, 151208554-151208555, 151208561-151208563, 151231018
630SGCD50.9045977011494383870156016246, 156016250-156016269, 156016284, 156016292-156016305, 156016309, 156021961-156021962, 156021995-156022022, 156022042-156022056, 156022061
631IL12B50.9736575481256326987158749439-158749457, 158753783-158753789
632GABRG250.9974160206718341548161495064-161495065, 161495092, 161495099
633MSX250.997512437810952804174151898, 174151906
634NHP250.69480519480519141462177580499-177580534, 177580659-177580687, 177580701, 177580717, 177580736-177580779, 177580789-177580818
635SQSTM150.9977324263038531323179247951, 179247994-179247995
636FLT450.955767350928641814092180043454-180043473, 180043963, 180045800, 180045812, 180045829-180045847, 180045887-180045920, 180046073-180046080, 180046253-180046256, 180046267-180046282, 180046308-180046329, 180046344, 180046362, 180046755-180046764, 180056817-180056824, 180057644, 180057694-180057715, 180076510-180076512, 180076516, 180076520-180076527
637FOXC160.8574007220216623716621610769-1610794, 1611186-1611191, 1611194, 1611197, 1611322-1611357, 1611415-1611438, 1611476, 1611480-1611481, 1611514-1611524, 1611547-1611586, 1611647-1611678, 1611690-1611714, 1611797, 1611801-1611818, 1611822, 1611827-1611831, 1612018-1612020, 1612030-1612033
638F13A160.99818099135971421996174901, 6182270, 6182297, 6182314
639GCM260.999342537804081152110874473
640DTNBP160.86174242424242146105615615570-15615595, 15615602, 15615607, 15627612, 15627624-15627629, 15627655-15627665, 15627682-15627706, 15651560-15651569, 15652340-15652349, 15652360, 15652369-15652371, 15663045-15663087, 15663093-15663100
641ATXN160.9665032679738682244816327611, 16327862-16327942
642ALDH5A160.998178506375233164724495337-24495339
643HLA-H60.7466666666666719075029855797-29855823, 29855949-29855955, 29855996-29856001, 29856255-29856257, 29856285-29856287, 29856347, 29856353, 29856368, 29856389, 29856402, 29856424-29856427, 29856436-29856474, 29856513-29856549, 29856593-29856614, 29856633, 29856643, 29856655, 29856676-29856696, 29856743-29856755
644TNXB60.9554173146708186192931976916, 31976926, 31977388-31977394, 31977525-31977555, 31977998, 31978498-31978535, 31979476-31979482
645CYP21A260.993951612903239148832006215-32006217, 32006317, 32006337, 32006886, 32008451, 32008896, 32008904
646TNXB60.99717181239689361272932009648-32009664, 32010123-32010129, 32010272, 32010732, 32011235, 32011248, 32012330-32012336, 32064738
647HLA-DQA160.7773437517176832605295, 32609099-32609135, 32609142, 32609150, 32609166-32609169, 32609173, 32609181, 32609236, 32609239-32609241, 32609253-32609255, 32609278-32609279, 32609283, 32609286, 32609297-32609299, 32609325-32609331, 32609786-32609792, 32609797, 32609806, 32609873, 32609926-32609933, 32609952, 32609960-32609965, 32609969, 32609974, 32610002, 32610387-32610407, 32610418-32610454, 32610461-32610462, 32610468-32610474, 32610478, 32610481, 32610487, 32610513, 32610534-32610538
648HLA-DQB160.8040712468193415478632629124-32629173, 32629224-32629234, 32629755, 32629809, 32629889-32629891, 32629935, 32632575-32632615, 32632674-32632714, 32632717, 32632724, 32632832, 32634355, 32634373
649SYNGAP160.90128968253968398403233388042-33388108, 33391254-33391263, 33391284-33391288, 33391317-33391356, 33393575, 33393589-33393592, 33393604-33393642, 33393646, 33393658-33393680, 33399957, 33399972-33400016, 33400477-33400485, 33400577-33400583, 33405540-33405547, 33410897-33410900, 33411197-33411221, 33411237-33411247, 33411305, 33411312-33411313, 33411331-33411332, 33411363-33411379, 33411422, 33411431-33411444, 33411500-33411521, 33411542-33411562, 33411612-33411620, 33411672-33411673, 33411721-33411727
650TULP160.9521178637200778162935479511-35479515, 35479968-35479989, 35480047, 35480429-35480431, 35480444-35480451, 35480589-35480627
651MOCS160.78126635269492418191139893422-39893589, 39895068-39895317
652GUCA1B60.9983416252073160342162527
653PRPH260.999039385206531104142689755
654RSPH960.99638989169675383143612987-43612989
655RUNX260.9878671775223519156645296464-45296479, 45296519-45296521
656MUT60.9893475366178424225349409564-49409586, 49409592
657PKHD160.99656441717791421222551613191, 51640637, 51640646, 51695659-51695672, 51695693, 51712657, 51712722, 51720691, 51720787-51720793, 51720838, 51889655, 51909778, 51923369-51923379
658EFHC160.9656786271450966192352288744-52288747, 52288812-52288825, 52288849-52288862, 52288880-52288895, 52288898-52288899, 52288948, 52288965, 52303329-52303334, 52318963-52318965, 52355043-52355046, 52357107
659EYS60.98844727080021109943564430912, 64472479, 64472500-64472505, 65149185, 65149188-65149190, 65149214-65149217, 65300143, 65300281, 65300300, 65300311, 65300319-65300320, 65300751-65300763, 65300822, 65300890-65300918, 65301096, 65301211, 65301217, 65301408, 65301679, 65301734, 65301787, 65301824, 65303076, 65336014-65336021, 65336067-65336069, 65336081-65336083, 65336094-65336110, 66112371, 66112409, 66204790-66204791
660LMBRD160.9426987060998293162370408969, 70410724, 70447834-70447846, 70447869-70447877, 70451744, 70462151-70462170, 70462197-70462222, 70462248, 70490388-70490389, 70490396-70490413, 70490420
661COL9A160.93456254519161181276670926619-70926653, 70926711-70926753, 70926772, 70983783-70983785, 70990535, 70990538, 70990707-70990726, 70993495, 71003878-71003886, 71003965, 71003989, 71004051-71004080, 71004087-71004120, 71004150
662RIMS160.9970466627288815507972678706, 72678709, 72678714, 72678757-72678766, 72892360, 72892366
663SLC17A560.9778225806451633148874363539-74363560, 74363590-74363600
664MYO660.95101088646967189385876566905-76566936, 76568690-76568693, 76572313-76572321, 76572393-76572395, 76572399, 76591517, 76599774-76599795, 76599819-76599825, 76601006, 76602259-76602263, 76602335-76602378, 76604948-76604970, 76617377-76617381, 76617386-76617393, 76617396-76617397, 76623780-76623786, 76623817, 76623866, 76623898-76623901, 76623964-76623965, 76624723-76624729
665LCA560.92836676217765150209480196878, 80197025, 80197029-80197030, 80197034-80197043, 80197135, 80198865-80198871, 80201332, 80202325-80202357, 80222929-80222934, 80222966, 80223151-80223174, 80223326-80223332, 80223402, 80228425-80228472, 80228516, 80228527, 80228607-80228611
666BCKDHB60.994910941475836117980881103-80881107, 81053503
667SLC35A160.9832347140039417101488182725-88182737, 88187257, 88218189-88218190, 88218792
668RARS260.9861830742659824173788224166, 88224688, 88255345, 88258309-88258323, 88265126-88265127, 88265207, 88265218, 88273848-88273849
669NDUFAF460.846590909090918152897338981, 97339114, 97339136-97339139, 97344681-97344714, 97345542-97345577, 97345651-97345655
670PDSS260.98416666666667191200107595278, 107780260-107780277
671SEC6360.99080157687254212283108204209-108204221, 108214725, 108215077, 108279191-108279196
672FIG460.956681350954481182724110081533, 110081581, 110083294-110083304, 110083326-110083328, 110083334, 110083357-110083368, 110083407-110083410, 110085162, 110086245-110086252, 110086276-110086323, 110087932-110087933, 110088008-110088010, 110088018-110088022, 110088027, 110088066-110088070, 110088074-110088084, 110146303
673COL10A160.9965736661771972043116446573-116446579
674RSPH4A60.95490469549047972151116938152, 116938173, 116938359-116938364, 116938392-116938394, 116938427-116938453, 116943946-116943947, 116943952, 116944154, 116948798, 116948884-116948885, 116948888-116948889, 116949029, 116949035-116949045, 116949178, 116949278-116949279, 116949347-116949354, 116949513-116949532, 116951700-116951706
675LAMA260.97757129125282109363129204464, 129204469, 129465098, 129468188-129468193, 129470154, 129470176-129470183, 129475716-129475718, 129475723-129475727, 129475784-129475785, 129486721-129486725, 129486802-129486820, 129498851-129498852, 129498892, 129498899, 129511357-129511362, 129511444, 129511449, 129513915-129513916, 129513939, 129704279-129704335, 129712678-129712687, 129712715-129712740, 129723476, 129723491, 129725039-129725046, 129761961-129761972, 129762129-129762143, 129777484-129777487, 129813496-129813502, 129813552-129813553
676ENPP160.96652267818575932778132129176, 132129191-132129225, 132129240, 132129261-132129272, 132129300-132129303, 132129309-132129320, 132129349-132129351, 132129356-132129367, 132171212-132171221, 132172381, 132172400, 132203572
677EYA460.9994791666666711920133827306
678AHI160.9994430520746323591135644371, 135754375
679IFNGR160.9993197278911611470137519588
680STX1160.996527777777783864144508600-144508602
681EPM2A60.99297188755027996146056415-146056421
682SYNE160.9865120860801735626394152485301-152485309, 152485384, 152485434, 152510390, 152510407, 152510423-152510469, 152510487, 152510496-152510524, 152510533-152510535, 152510538-152510542, 152590307, 152737561, 152737567-152737570, 152737818, 152737821, 152738019-152738033, 152746531-152746553, 152746600-152746629, 152748861, 152748876, 152748880-152748881, 152748885, 152749376, 152749433-152749439, 152749523-152749527, 152751258-152751260, 152751270, 152751283-152751310, 152751631-152751656, 152751677, 152751721-152751729, 152751781, 152751800, 152751811, 152757076-152757101, 152757120, 152757132-152757133, 152757153, 152757165, 152762363-152762400, 152763235-152763238, 152782828, 152782834, 152783983-152783989, 152784505, 152784555, 152787141, 152787149, 152787198-152787204
683TBP60.901960784313731001020170871010-170871109
684LFNG70.8008771929824622711402559503-2559505, 2559508, 2559517-2559547, 2559562, 2559568-2559664, 2559677, 2559679, 2559732-2559773, 2559823-2559847, 2559903-2559927
685PMS270.9235225955967619825896037054, 6042123-6042155, 6042165-6042185, 6042241, 6043343-6043358, 6043376-6043399, 6043615-6043661, 6045612-6045646, 6048630-6048649
686TWIST170.7339901477832516260919156652-19156694, 19156705, 19156730-19156740, 19156766-19156768, 19156786-19156789, 19156795-19156866, 19156886-19156897, 19156901-19156905, 19156912, 19156935-19156944
687DNAH1170.941570881226057931357221582898-21582904, 21582946-21582957, 21582995-21582997, 21583048, 21583052, 21583182-21583193, 21598610-21598616, 21627761-21627762, 21628895, 21654803-21654829, 21654838-21654859, 21655851-21655896, 21655908-21655910, 21655914, 21655917-21655925, 21657237-21657323, 21657334-21657384, 21658718-21658813, 21658826, 21658836-21658840, 21659574-21659635, 21659660-21659696, 21675503-21675518, 21678571-21678575, 21678643-21678648, 21695494-21695519, 21695524, 21695543-21695572, 21698595-21698630, 21726771, 21726778-21726780, 21726868-21726873, 21727094-21727100, 21730405, 21730430-21730459, 21730462, 21775443, 21788228-21788240, 21788355-21788360, 21789297-21789300, 21789306-21789333, 21789344-21789370, 21789887-21789905, 21789942-21789973, 21901571
688FAM126A70.994891443167318156622985226, 23016969-23016975
689CYCS70.770440251572337331825163350-25163397, 25163423-25163443, 25163570-25163573
690HOXA1370.50299914310197580116727238862, 27238900-27238964, 27238999, 27239023, 27239027-27239028, 27239033, 27239082-27239086, 27239114, 27239143-27239167, 27239174, 27239183-27239225, 27239235-27239650, 27239679-27239696
691GARS70.9518018018018107222030634580-30634585, 30634630, 30634661-30634662, 30634731-30634740, 30639575-30639577, 30642696-30642702, 30643152-30643156, 30649201-30649202, 30651837-30651842, 30651845, 30665855, 30668240-30668257, 30671915-30671958, 30671985
692RP970.972972972972971866633135003, 33148928-33148944
693BBS970.9774774774774860266433192432, 33195299-33195300, 33217090-33217101, 33217116, 33217155-33217165, 33217186-33217203, 33397565-33397579
694TXNDC370.9937747594793411176737889982, 37889985-37889991, 37890015, 37890021-37890022
695GLI370.9947290744254725474342187849, 42187853-42187876
696GCK70.9628836545324852140144186069-44186118, 44186121, 44187294
697CCM270.9348314606741687133545039933-45039962, 45113086-45113099, 45113142-45113170, 45113875-45113877, 45113905-45113907, 45113919-45113925, 45115650
698EGFR70.99807321772647363355087014, 55087038-55087043
699GUSB70.9902862985685119195665441107, 65441183, 65444459-65444462, 65445286, 65446961-65446969, 65447068-65447069, 65447074
700ASL70.9806451612903227139565551741, 65551745, 65553808, 65553860-65553862, 65554101-65554120, 65554294
701KCTD770.99080459770115887066094081-66094083, 66094089-66094093
702NCF170.981818181818181582572640033-72640039, 72648696-72648703
703FKBP670.984756097560981598472742474-72742488
704ELN70.9880459770114926217573466266-73466290, 73471994
705NCF170.9181585677749496117374197896-74197917, 74199607-74199613, 74202379-74202380, 74202427, 74202913-74202934, 74202989-74203029, 74203395
706HGF70.90717878372199203218781331897-81331940, 81331947-81331956, 81331971-81331972, 81331989-81331991, 81332034-81332046, 81334706-81334707, 81334733-81334760, 81334810-81334841, 81335014-81335041, 81335067-81335069, 81335645-81335647, 81335660, 81335673, 81335686-81335698, 81372755-81372756, 81374391-81374402, 81374425-81374428, 81374435-81374436
707ABCB470.9864583333333352384087074183-87074191, 87076364, 87076377-87076388, 87076394, 87076408-87076409, 87104752, 87104756-87104781
708AKAP970.8556806550665316921172491609603-91609604, 91609635-91609647, 91621493, 91623977, 91624004-91624006, 91624009-91624019, 91624046-91624047, 91624065, 91624957-91624959, 91624963, 91625029-91625114, 91630162-91630237, 91630281-91630399, 91630407-91630556, 91630563-91630591, 91630620, 91630640-91630643, 91630671-91630683, 91630710, 91630713-91630730, 91630737-91630741, 91630777-91630938, 91630964-91630983, 91631009-91631010, 91631013-91631016, 91631019-91631105, 91631127-91631260, 91631282-91631389, 91631411-91631434, 91631441-91631474, 91631493-91631510, 91631527-91631531, 91631557-91631649, 91631660, 91631683-91631751, 91631781, 91631784-91631787, 91631815-91631824, 91631850, 91631871-91631875, 91631879-91631883, 91631895-91631916, 91631932-91631962, 91631986, 91631990, 91632014-91632030, 91632033-91632044, 91632057, 91632084-91632120, 91632135, 91632158-91632182, 91632212, 91632275-91632294, 91632306, 91632352, 91632358-91632367, 91632392-91632394, 91632405, 91632408, 91632443-91632478, 91632524-91632544, 91641891-91641895, 91641903-91641905, 91641928, 91641934-91641941, 91643573, 91708589-91708591, 91709002, 91711899, 91712546, 91712741-91712771, 91712931, 91714014-91714017, 91714142-91714148, 91714851, 91714889-91714899, 91722429-91722430, 91726217-91726223, 91731945, 91731983, 91732076, 91735032-91735033, 91735054-91735058, 91735064, 91736639-91736660, 91736684
709KRIT170.9819086386250640221191842539-91842552, 91851235-91851245, 91851289-91851293, 91852150-91852157, 91852211, 91865856
710COL1A270.997805413313839410194056371, 94058704-94058711
711SGCE70.9395280235988282135694232650, 94248123-94248153, 94248157, 94248163, 94248203, 94248216-94248217, 94257576, 94257647, 94259104-94259111, 94285302-94285315, 94285344-94285361, 94285372-94285374
712SLC25A1370.9901526341703620203195864121-95864138, 95864143, 95864150
713TFR270.9970906068162972406100238620, 100238640, 100238649-100238652, 100238693
714SLC26A570.99194630872483182235103014848, 103014965, 103018071-103018077, 103018227-103018233, 103018958, 103018971
715RELN70.9629950852847638410377103126804, 103130300-103130326, 103151376-103151378, 103151402-103151422, 103155752-103155754, 103236998, 103270508, 103301934-103301936, 103338326, 103338331, 103338334, 103338364-103338410, 103338425-103338429, 103338452-103338506, 103338528, 103341373-103341396, 103341415-103341424, 103341429, 103341441-103341449, 103363622-103363625, 103363633-103363638, 103368558-103368583, 103389873-103389951, 103393659-103393661, 103417004-103417021, 103417042-103417074
716SLC26A470.9970123772940772343107338514-107338520
717SLC26A370.97254901960784632295107414365-107414367, 107414403-107414419, 107414433-107414435, 107427289-107427290, 107429969-107429974, 107430002, 107431531-107431539, 107431548, 107432357-107432377
718DLD70.9986928104575221530107556028, 107556101
719IFRD170.9882005899705161356112090804-112090816, 112102186, 112102197, 112102200
720MET70.953989935298351924173116339601, 116380004-116380024, 116380049-116380079, 116380093-116380098, 116380906-116380914, 116380920-116380921, 116380935, 116380941-116380943, 116380947-116380954, 116380977, 116380993-116381079, 116403266-116403270, 116403322, 116411632-116411646, 116436022
721CFTR70.98559531847851644443117171046, 117171156-117171168, 117175340-117175342, 117188716-117188720, 117188739, 117188760-117188800
722AASS70.9989212513484432781121738799, 121738815-121738816
723PAX470.9990310077519411032127251188
724FLNC70.98813890926877978178128470713-128470723, 128470979-128471020, 128493772, 128493795, 128493804, 128494163, 128494597, 128498155-128498193
725ATP6V0A470.9996036464526412523138455988
726BRAF70.941764450239031342301140434397-140434407, 140434453-140434469, 140434497, 140434521, 140434541, 140439636-140439648, 140439720, 140477847, 140507788-140507834, 140508700-140508710, 140508722, 140508770-140508771, 140508788-140508795, 140624403-140624420, 140624457
727PRSS170.71370967741935213744142457346-142457368, 142458419-142458454, 142458496-142458514, 142458523-142458565, 142459625-142459629, 142459667, 142459679, 142459689, 142459694-142459696, 142459797, 142459814, 142459868-142459878, 142460313, 142460335, 142460339, 142460366-142460397, 142460409-142460418, 142460744, 142460752, 142460764, 142460778-142460779, 142460793-142460805, 142460836-142460838, 142460848, 142460865
728CNTNAP270.97772772772773893996146536925, 146536990-146536993, 147183106-147183108, 147183111-147183115, 147336228, 147336232, 147336243, 147336335-147336369, 147600682, 147600748-147600749, 147600792-147600803, 147674957-147674962, 147674973, 148080841-148080842, 148080845-148080858
729KCNH270.98218390804598623480150655491-150655522, 150656682-150656689, 150671872, 150671879-150671881, 150674926-150674938, 150674985, 150674988-150674991
730PRKAG270.95847953216374711710151329155-151329224, 151372604
731SHH70.9949604031677571389155595672, 155595688, 155595692-155595695, 155596130
732MNX170.9195688225539971206156802667-156802743, 156802787-156802805, 156802816
733MCPH180.991626794258372125086264189-6264206, 6299599, 6299606-6299607
734GATA480.9608728367193452132911565909, 11565963-11565966, 11566114-11566131, 11566164, 11566172-11566179, 11566224-11566232, 11566349-11566357, 11566405-11566406
735ESCO280.9878183831672222180627633934, 27650282-27650302
736ADAM980.998373983739844246038854641, 38913222, 38934864, 38947638
737ANK180.9977168949771713569441582011-41582014, 41583433-41583436, 41583441-41583445
738THAP180.967289719626172164242693105-42693110, 42693174, 42693187-42693188, 42694334, 42698174, 42698214-42698216, 42698220-42698226
739RP180.9978365013135514647155537410, 55537514-55537519, 55538032-55538033, 55538047, 55538107, 55538533-55538535
740CHD780.9924394040471468899461654481, 61654566-61654569, 61654591, 61655091, 61655194-61655201, 61655271, 61655375-61655378, 61734593, 61757532, 61763825-61763867, 61769049, 61769240, 61777796
741TTPA80.849462365591412683763973839-63973840, 63978486-63978519, 63978619-63978625, 63998393-63998412, 63998416, 63998426, 63998435-63998492, 63998549, 63998552, 63998555
742EYA180.996065205171447177972111599, 72127861, 72127864, 72127867, 72211293-72211295
743DECR180.994047619047626100891049099-91049102, 91049109, 91064103
744TMEM6780.96619812583668101298894815850-94815854, 94815868, 94817001-94817022, 94817052-94817094, 94821068-94821086, 94821285-94821291, 94821370, 94822016-94822018
745VPS13B80.977905619476426511994100050651-100050660, 100050728, 100050746, 100286477, 100286487-100286491, 100286513, 100287342-100287382, 100287437, 100287442-100287482, 100396490-100396493, 100443765, 100443823-100443832, 100443844, 100443848-100443852, 100513963, 100513999-100514010, 100514038-100514055, 100515170-100515173, 100523451-100523456, 100523531, 100568751-100568768, 100844597, 100844685-100844726, 100844774-100844796, 100844807-100844810, 100844815-100844823, 100847943-100847945
746GRHL280.96166134185304721878102589659-102589708, 102631836-102631841, 102676707, 102678831-102678845
747TRPS180.923809523809522963885116599297, 116599300-116599363, 116599368-116599383, 116599407-116599422, 116599426-116599455, 116599465-116599497, 116599504-116599507, 116599564-116599570, 116599614-116599634, 116599667-116599674, 116599704-116599757, 116599763-116599796, 116599800-116599803, 116616827, 116631461-116631462, 116635836
748EXT180.9982150825524342241118847745, 118849355-118849357
749KIAA019680.9997126436781613480126091151
750TG80.98904538341158918307133879282-133879284, 133879292-133879296, 133881994, 133882036-133882038, 133882050-133882055, 133882070, 133883721-133883723, 133894823, 133895176, 133895179-133895193, 133898783-133898785, 133981804-133981814, 133995620-133995657
751SLURP180.25234312143822573-143822643, 143822670-143822694, 143823221-143823222, 143823238, 143823243-143823319, 143823746-143823803
752CYP11B180.841269841269842401512143956387-143956421, 143956453-143956471, 143956496-143956508, 143956528-143956547, 143956553-143956565, 143956706, 143957129, 143957151, 143957163, 143957230-143957249, 143957290, 143957720-143957759, 143958151-143958157, 143960448-143960452, 143960552-143960558, 143960599, 143961008, 143961026-143961029, 143961067, 143961081, 143961138-143961185
753PLEC80.79558875844895287314055144990599, 144991330, 144992178, 144992383, 144992386-144992389, 144993324, 144994360-144994379, 144994388-144994394, 144995393-144995399, 144995476-144995486, 144995579, 144995791-144995792, 144995820-144995833, 144995841, 144996162-144996168, 144996230-144996284, 144996383-144996390, 144996530-144996559, 144996672-144996706, 144996902-144996928, 144996967-144996989, 144997059, 144997067-144997080, 144997088-144997114, 144997129-144997153, 144997315-144997327, 144997383-144997419, 144997444-144997465, 144997560-144997578, 144997610, 144997613-144997631, 144997656, 144997806, 144997835-144997897, 144997973-144997996, 144998031, 144998057-144998061, 144998095-144998114, 144998154-144998190, 144998194, 144998221-144998282, 144998288-144998309, 144998319-144998339, 144998408-144998414, 144998444, 144998447, 144998453-144998487, 144998513-144998550, 144998564-144998568, 144998571, 144998598-144998646, 144998656-144998674, 144998679, 144998682, 144998747-144998833, 144998855-144998990, 144999004-144999042, 144999052-144999157, 144999165, 144999168, 144999179-144999195, 144999205, 144999215, 144999230-144999298, 144999336-144999414, 144999417, 144999431-144999435, 144999440-144999491, 144999494-144999497, 144999499-144999510, 144999523, 144999534-144999545, 144999572-144999627, 144999640-144999668, 144999679-144999778, 144999791-144999795, 144999800-144999802, 144999805, 144999812, 144999819-144999897, 144999913-144999940, 144999950-145000052, 145000952-145000997, 145001008, 145001023-145001024, 145001031, 145001149-145001155, 145001167-145001201, 145001210, 145001219-145001235, 145001449-145001492, 145001588, 145001616, 145001653-145001660, 145001675-145001751, 145001761-145001770, 145001784-145001787, 145001821, 145001858, 145001866, 145001869, 145001885, 145001912, 145002034-145002078, 145002096, 145002113, 145003325, 145003357-145003375, 145003635-145003637, 145003641, 145003653, 145003733, 145003823-145003846, 145003857-145003860, 145004385-145004402, 145005778-145005782, 145005826-145005827, 145006105-145006124, 145006139-145006166, 145006182, 145006190-145006194, 145006200, 145006298-145006358, 145006379-145006396, 145006401, 145006568, 145006605-145006681, 145006719, 145006803-145006841, 145006873-145006876, 145006975, 145006985, 145007008-145007012, 145007016, 145007024, 145007029, 145007060-145007100, 145007115-145007135, 145007173-145007185, 145007191, 145007199, 145007204, 145007247, 145007256, 145007271, 145007274-145007275, 145007425, 145007503-145007507, 145008170, 145008186-145008225, 145008232-145008245, 145008254, 145008574, 145008858, 145008872-145008893, 145008978-145008984, 145008992-145008993, 145009004, 145009011-145009012, 145009040-145009089, 145009092-145009097, 145009181-145009183, 145009210, 145009225, 145009229, 145009242-145009275, 145009380-145009416, 145009451, 145009481, 145010016-145010018, 145010043-145010044, 145010103-145010112, 145010148-145010150, 145011147, 145011162-145011163, 145011401, 145011405
754GPT80.98926894701543161491145731295-145731310
755DOCK890.98492063492063956300214977-214979, 214987-214992, 214999, 215004-215011, 286497-286507, 286563-286580, 304659-304660, 304696-304704, 312036, 328061-328062, 328078, 328099-328129, 328171, 332428
756VLDLR90.988939740655992926222622218-2622245, 2648786
757JAK290.985583995292734933995069056-5069069, 5073783, 5077475-5077476, 5077479, 5077579-5077580, 5078375, 5078406, 5078409, 5080229-5080235, 5080533-5080534, 5080584, 5081796-5081803, 5089859, 5090538, 5090739-5090743, 5090858
758GLDC90.972249428664718530636536188, 6536195-6536199, 6540051-6540089, 6540126-6540127, 6540134, 6592915-6592916, 6592923-6592926, 6592941-6592943, 6592983, 6592986-6592990, 6595040, 6595075-6595092, 6645468-6645469, 6645472
759TOPORS90.99872530274064313832542407, 32542764-32542766
760B4GALT190.79949874686717240119733166814, 33166867-33166910, 33166919-33166966, 33166977-33167011, 33167019-33167073, 33167090-33167146
761VCP90.9950433705080512242135057518-35057527, 35059567, 35059702
762NPR290.9936386768447820314435792414-35792415, 35792639-35792640, 35792650, 35792666, 35792751-35792764
763GNE90.9686118479221971226236234113, 36236866-36236904, 36236944-36236946, 36236969-36236981, 36246218-36246225, 36246295, 36246312-36246314, 36246460-36246462
764VPS13A90.93238845144357644952579853024-79853029, 79896832-79896842, 79897088, 79908344, 79908353, 79908408, 79908419-79908424, 79910546, 79910641-79910644, 79910700, 79922883, 79922911-79922912, 79922951-79922952, 79922977-79922996, 79929015-79929020, 79929416-79929422, 79929510, 79929515-79929518, 79930230-79930238, 79931120-79931133, 79931192-79931202, 79931239, 79931243-79931259, 79932588-79932614, 79933175-79933182, 79933308-79933310, 79933358-79933362, 79933402, 79934492-79934496, 79934499, 79934502, 79946926-79946934, 79946937, 79952431, 79954640, 79966292, 79966295-79966297, 79966322, 79968348-79968349, 79968459, 79968501, 79968507-79968540, 79971630, 79971650-79971663, 79971670-79971750, 79971755-79971756, 79971769-79971783, 79972608, 79972618-79972706, 79972716-79972734, 79973299-79973313, 79973321-79973325, 79974249-79974252, 79974269-79974318, 79975452-79975460, 79975538-79975557, 79980405-79980406, 79980419-79980437, 79980478, 79980483, 79981643-79981664, 79981726, 79981734, 79981738, 79981747-79981756, 79983019-79983024, 79983037, 79985405-79985415, 79985817, 80018172, 80018191, 80020851, 80022449-80022452, 80022495
765AUH90.9882352941176512102094123942-94123953
766ROR290.9879943502824934283294712185-94712189, 94712211-94712230, 94712237-94712245
767SPTLC190.95780590717360142294842309-94842310, 94842313, 94842317-94842324, 94842332-94842337, 94843152-94843194
768HSD17B390.963558413719193493399064254-99064258, 99064267, 99064294-99064296, 99064334, 99064351-99064374
769XPA90.99635036496353822100447213, 100449425, 100449432
770FOXE190.757575757575762721122100616209, 100616214-100616216, 100616266-100616269, 100616287-100616334, 100616342-100616364, 100616407-100616422, 100616540-100616547, 100616583, 100616586-100616588, 100616631, 100616642, 100616646-100616654, 100616685-100616699, 100616705-100616710, 100616719-100616732, 100616742-100616752, 100616768-100616773, 100616777-100616786, 100616794-100616826, 100616830, 100616833, 100616841-100616848, 100616863-100616898, 100617038-100617044, 100617122, 100617134-100617136, 100617141, 100617145
771TGFBR190.906746031746031411512101867491-101867504, 101867531-101867569, 101907084-101907107, 101907121-101907161, 101908798-101908820
772ABCA190.9995579133510236786107556790-107556791, 107568705
773FKTN90.98268398268398241386108337377, 108363585-108363597, 108363602, 108370219-108370227
774IKBKAP90.99724931232808113999111653638-111653639, 111653662, 111653668, 111656308-111656314
775MUSK90.81762452107284762610113449437, 113457683-113457686, 113457753-113457787, 113457807, 113457810, 113459635-113459693, 113459712, 113459720, 113459745-113459746, 113530216, 113530219-113530221, 113530229-113530231, 113530332-113530335, 113538068-113538072, 113538085, 113538147, 113538158, 113538216, 113538223-113538224, 113538928-113538931, 113547172-113547173, 113547178-113547191, 113547222, 113547283, 113547810, 113547817, 113547845, 113547849-113547853, 113547910-113547957, 113547995-113547998, 113549995-113550011, 113550102-113550118, 113562663-113562694, 113562710-113562737, 113562825-113562848, 113562854, 113562909-113562930, 113562946-113562955, 113562991-113563002, 113563022, 113563028-113563057, 113563062-113563072, 113563152-113563162, 113563176-113563225, 113563241
776DFNB3190.9977973568281962724117241007, 117266931-117266934, 117266937
777CDK5RAP290.9989440337909265682123280766-123280771
778STXBP190.98675496688742241812130416030-130416053
779GLE190.9976156413924752097131267090, 131267103, 131267128, 131267166, 131267179
780DOLK90.9993815708101411617131709018
781SETX90.98904655215335888034135139901, 135172319-135172329, 135172398-135172441, 135176078-135176089, 135203815-135203823, 135205566-135205575, 135206460
782TTF190.9992641648270822718135251324, 135251390
783CEL90.819022457067374112271135944583-135944589, 135945994-135946018, 135946606-135946669, 135946684-135946835, 135946842-135946933, 135946943-135946966, 135946980-135947026
784ADAMTS1390.971755368814191214284136293754-136293803, 136293809-136293850, 136293864-136293891, 136295128
785DBH90.99029126213592181854136522230-136522246, 136522282
786SARDH90.917664127675012272757136531885-136531889, 136535706-136535766, 136535784-136535874, 136536664-136536684, 136536717, 136536729, 136536732-136536734, 136536742-136536753, 136536800, 136597678-136597684, 136597721-136597723, 136599275-136599295
787COL5A190.98296175457676945517137534046, 137534064-137534142, 137582764, 137582779, 137582904-137582910, 137582923-137582925, 137591766, 137591867
788LHX390.993382961124981209139094805, 139094810, 139094819, 139094853-139094857
789INPP5E90.66718346253236441935139325488-139325495, 139325557, 139326276-139326344, 139326352-139326379, 139326411-139326425, 139326430-139326437, 139326931-139326943, 139326961, 139327002-139327011, 139327607-139327610, 139327642-139327646, 139327649, 139327673, 139327690, 139327705-139327708, 139329223-139329246, 139333060-139333075, 139333146, 139333149-139333169, 139333217, 139333265-139333299, 139333306-139333375, 139333382, 139333399, 139333403-139333429, 139333436, 139333498-139333537, 139333547-139333579, 139333589-139333669, 139333679-139333681, 139333733-139333805, 139333825-139333871
790NOTCH190.9104068857596877668139390580-139390591, 139390864, 139390884, 139390915, 139390918-139390919, 139390922, 139391470, 139391522-139391524, 139391830, 139391856, 139391988, 139411805-139411811, 139412253-139412278, 139412686, 139412729-139412732, 139412737, 139413060, 139413063-139413076, 139417302-139417640, 139418169-139418211, 139418223-139418235, 139418242-139418347, 139418365-139418373, 139418383-139418431, 139440182-139440213, 139440222-139440238
791AGPAT290.9605734767025133837139581749-139581781
792SLC34A390.96666666666667601800140128315-140128346, 140128604-140128630, 140128644
793EHMT190.854246856556335683897140513481-140513501, 140605440-140605464, 140611078-140611207, 140611225-140611451, 140611471-140611609, 140611617, 140728825, 140728965-140728976, 140729292, 140729295-140729296, 140729335-140729343
794SHOXX0.81456200227531163879591686-591738, 591762-591799, 591812-591874, 591885-591892, 595482
795CSF2RAX0.4812260536398567713051401597-1401664, 1404671-1404813, 1407412-1407459, 1407469-1407476, 1407483-1407492, 1407652-1407669, 1407690-1407708, 1407734-1407781, 1409232-1409238, 1409242-1409252, 1409256, 1409264-1409269, 1409276-1409283, 1409325-1409378, 1409383-1409384, 1413221-1413303, 1413323-1413354, 1414322, 1419384-1419444, 1419508-1419519, 1422157, 1422160-1422164, 1422185, 1422197, 1422201-1422205, 1422215-1422216, 1422222, 1422225, 1422229, 1422232-1422236, 1422242, 1422245, 1422251, 1422816-1422825, 1424361
796ARSEX0.961016949152546917702852902-2852916, 2852947-2852955, 2853006-2853011, 2853136, 2854885-2854897, 2856155, 2856160, 2856166, 2856197-2856200, 2856212, 2856263, 2867394-2867399, 2867726-2867735
797KAL1X0.930004894762614320438501076, 8501082, 8502488, 8504979-8504983, 8522047-8522054, 8536273-8536296, 8536390-8536394, 8538541-8538548, 8538560, 8538576-8538580, 8553350-8553390, 8553426-8553437, 8555897-8555903, 8555957-8555976, 8556016-8556019
798OFD1X0.997367555116818303913786870-13786877
799FANCBX0.99689922480628258014861689-14861690, 14882952-14882957
800AP1S2X0.930379746835443347415864060-15864063, 15864067-15864071, 15870483-15870500, 15870578-15870583
801SMSX0.9881925522252513110121958946-21958958
802PHEXX0.92888888888889160225022231021-22231075, 22237217-22237220, 22239794-22239854, 22244601, 22244606-22244608, 22245703-22245724, 22263454-22263467
803ARXX0.9703966844286650168925031552-25031554, 25031567, 25031580-25031593, 25031600, 25031604-25031607, 25031655, 25031662-25031684, 25031777-25031779
804NR0B1X0.997169143665964141330326624, 30326631, 30326634-30326635
805DMDX0.963827093506964001105831279095-31279097, 31279107, 31279113, 31279118, 31279121-31279133, 32398627-32398701, 32398724-32398792, 32404459-32404460, 32404463, 32404521-32404533, 32407618-32407633, 32407649-32407662, 32407687-32407693, 32407733-32407734, 32407784-32407791, 32408242-32408294, 32472786-32472814, 32472824-32472857, 32472874-32472890, 32481556-32481566, 32490355-32490363, 32519872-32519874, 32717273-32717275, 32717376-32717390
806RPGRX0.514310494362531680345938144799-38144934, 38144976-38145009, 38145019, 38145022-38145023, 38145036-38145051, 38145077-38145163, 38145172, 38145181-38145213, 38145223-38145428, 38145441-38145474, 38145496-38145774, 38145783-38145870, 38145892-38145968, 38145988-38146081, 38146119-38146188, 38146205-38146310, 38146324-38146397, 38146418-38146489, 38146498, 38147114-38147218, 38147242-38147294, 38150212-38150277, 38150646-38150656, 38150715-38150737, 38176702-38176712
807ATP6AP2X0.993352326685667105340460079-40460085
808NYXX0.9585062240663960144641332852-41332857, 41333241-41333246, 41333368-41333371, 41333510-41333515, 41333546-41333557, 41333943-41333968
809CASKX0.90527838033261262276641416291-41416305, 41416310-41416312, 41416320, 41416327, 41419032-41419037, 41420848-41420871, 41428939, 41428942-41428948, 41428959, 41428971-41428999, 41437718-41437735, 41446238-41446240, 41469204-41469216, 41469219, 41469229, 41469240-41469271, 41481873-41481887, 41519715-41519726, 41524530-41524539, 41524635, 41524705, 41598656-41598665, 41604777-41604796, 41604818-41604854
810NDPX0.957711442786071740243809103-43809106, 43817740-43817752
811SYN1X0.9811142587346640211847434159, 47466383-47466391, 47478772, 47478776-47478788, 47478892-47478907
812CFPX0.9843971631205722141047489028-47489030, 47489037, 47489041, 47489053-47489069
813WASX0.9522862823061672150948542331-48542335, 48542694-48542706, 48543959-48543972, 48543984, 48544010-48544019, 48544126, 48544222-48544225, 48544370-48544376, 48547297-48547299, 48547303-48547305, 48547308-48547309, 48547342-48547344, 48547400-48547403, 48547407-48547408
814PQBP1X0.6716791979949926279848755805-48755822, 48758467-48758493, 48758561-48758573, 48759232-48759256, 48759276-48759296, 48759510-48759547, 48759575, 48759591-48759624, 48759650-48759653, 48759682-48759707, 48759741-48759748, 48759765-48759768, 48759772-48759785, 48760018-48760021, 48760039-48760042, 48760065-48760066, 48760205-48760210, 48760240, 48760245, 48760265, 48760269-48760272, 48760301-48760306
815SYPX0.97239915074312694249048074-49048098, 49048185
816CACNA1FX0.95770138186721251593449067092-49067109, 49079193-49079199, 49082493-49082511, 49082880-49082912, 49083120-49083133, 49083399-49083401, 49083579-49083587, 49084538-49084542, 49084713-49084729, 49084753, 49084756-49084769, 49084847-49084858, 49086763-49086785, 49086811-49086834, 49087019-49087031, 49087034, 49087048, 49087054, 49087058-49087065, 49087319-49087337, 49087709-49087710, 49087750-49087753, 49088141-49088142, 49088330
817FOXP3X0.77237654320988295129649107906-49107909, 49110413-49110419, 49110422-49110424, 49110527-49110528, 49111890-49111894, 49111953-49111969, 49112176-49112240, 49113274-49113302, 49113888-49113931, 49113954-49113958, 49114021, 49114192-49114193, 49114196, 49114200-49114215, 49114784-49114792, 49114819-49114855, 49114882-49114929
818CLCN5X0.99836801305594245149807018-49807021
819ARHGEF9X0.946486137975583155162898256-62898262, 62898342-62898368, 62898377-62898425
820ARX0.9960188201230511276366765159-66765168, 66765171
821OPHN1X0.92818596928186173240967316734-67316738, 67316771-67316798, 67316856-67316867, 67331760-67331763, 67333023-67333043, 67333071-67333079, 67339090-67339107, 67339111-67339112, 67339122-67339123, 67339133-67339147, 67339173-67339174, 67494617-67494651, 67502898-67502917
822EDAX0.992346938775519117668836186-68836194
823IGBP1X0.9901960784313710102069354504-69354513
824MED12X0.999540863177233653470361098-70361100
825TAF1X0.9954241464273126568270586184-70586205, 70586309-70586312
826PHKA1X0.998910675381264367271904373-71904376
827SLC16A2X0.999457111834961184273641569
828KIAA2022X0.87651065699846562455173959275-73959283, 73959327-73959331, 73959935, 73960060-73960065, 73960099-73960106, 73960162-73960166, 73960221-73960237, 73960368-73960371, 73960425-73960430, 73960456-73960458, 73960504-73960553, 73960576-73960613, 73960636-73960666, 73960704-73960708, 73960857-73960872, 73960977-73960983, 73961053-73961062, 73961148-73961161, 73961235-73961243, 73961264-73961282, 73961329-73961339, 73961372-73961390, 73961427-73961428, 73961493-73961500, 73961527-73961556, 73961745-73961777, 73961788-73961789, 73961914-73961928, 73961972-73961978, 73962121-73962133, 73962238-73962240, 73962302, 73962320-73962325, 73962430-73962432, 73962513-73962525, 73962613, 73962634, 73962640-73962644, 73962831-73962834, 73962932-73962936, 73963062-73963082, 73963190-73963192, 73963530, 73963798-73963801, 73963831-73963844, 73964084-73964119, 73964147-73964169, 73964198-73964207, 73964308-73964312
829ATRXX0.9867629362214299747976764034-76764054, 76776922-76776932, 76776957-76776960, 76812945-76812947, 76813045-76813050, 76919010-76919018, 76937153-76937162, 76937419-76937427, 76938076-76938080, 76952094, 76952097-76952104, 77041476-77041487
830ATP7AX0.387075283144572760450377227139-77227258, 77243829-77243839, 77243928-77243937, 77243999-77244018, 77244049-77244067, 77244102-77244107, 77244132-77244135, 77244167-77244172, 77244729-77244730, 77244847, 77244878-77244881, 77245007, 77245012, 77245058-77245089, 77245349-77245354, 77245413-77245425, 77254092-77254095, 77254142-77254145, 77258570-77258590, 77258607-77258635, 77258645-77258697, 77258718-77258733, 77264599-77264760, 77266673-77266749, 77266946-77267045, 77267056-77267171, 77268376-77268609, 77270159-77270250, 77271251-77271378, 77275741-77275747, 77275753-77275895, 77276442-77276576, 77284762-77284774, 77284799-77284939, 77286916-77286939, 77286963-77287069, 77289103-77289252, 77289276-77289319, 77294334-77294438, 77294460-77294462, 77296089-77296143, 77296166-77296167, 77296191-77296231, 77298089-77298157, 77298182-77298253, 77298280-77298285, 77298836-77298932, 77300978, 77301030-77301061, 77301791-77301836, 77301862-77301895, 77301927-77302067
831PGK1X0.9864433811802217125477369578-77369588, 77378863-77378868
832BRWD3X0.82085413200222969540979932109-79932115, 79932432-79932475, 79932605-79932609, 79932738, 79932743-79932756, 79936840-79936841, 79936992-79936998, 79938004-79938005, 79952270-79952274, 79955473-79955487, 79958979, 79959013-79959028, 79960195, 79960201-79960227, 79960238-79960244, 79960274-79960345, 79971725-79971749, 79973072-79973098, 79973102, 79973149-79973150, 79973154-79973155, 79973161-79973171, 79973232-79973255, 79974988-79975049, 79975073-79975138, 79978066-79978105, 79978128-79978180, 79978186-79978189, 79978192, 79978205-79978220, 79978245-79978259, 79979264-79979292, 79979340-79979359, 79980439-79980478, 79980502-79980540, 79980565-79980566, 79984251-79984268, 79984293-79984326, 79984372-79984380, 79984399-79984404, 79985420-79985427, 79985435-79985500, 79985517-79985519, 79988955-79988983, 79989622-79989623, 79989650-79989682, 79989709-79989717, 79990684-79990696, 79991495-79991527, 79999531
833CHMX0.56014271151886863196285119688-85119790, 85119797-85119826, 85128057-85128217, 85133970-85134033, 85134065-85134068, 85211158-85211175, 85211193, 85211199-85211235, 85211266-85211307, 85211347-85211348, 85211361-85211383, 85212860-85212864, 85212948-85212963, 85212974, 85213866-85213885, 85213909, 85213912-85213918, 85213944-85213982, 85218671-85218700, 85218720-85218722, 85218747-85218786, 85218825-85218849, 85218896-85218927, 85218950-85218979, 85219004-85219052, 85233780-85233811, 85233845-85233870, 85233895, 85236745-85236765
834PCDH19X0.997882637628557330699663560-99663562, 99663568-99663571
835COL4A5X0.970937129300121475058107782976-107783035, 107802294-107802303, 107802372-107802383, 107866055, 107868973-107868975, 107898592-107898604, 107898640-107898647, 107920778-107920781, 107925000-107925022, 107925030-107925031, 107925043-107925048, 107925112-107925116
836PAK3X0.9982788296041331743110416271-110416273
837CUL4BX0.98942377826404292742119694077-119694083, 119694086, 119694220, 119694342-119694354, 119694443-119694445, 119694450-119694453
838OCRLX0.99519586104952132706128674417-128674421, 128674433, 128674445-128674451
839GPC3X0.98164084911073321743132826416-132826427, 132826456-132826459, 132826466-132826481
840HPRT1X0.990867579908686657133620495-133620500
841FHL1X0.9639917695473335972135289197-135289202, 135290787-135290798, 135291430-135291439, 135291540-135291545, 135292109
842ZIC3X0.9978632478632531404136648985-136648987
843SOX3X0.98434004474273211341139586146-139586151, 139586436-139586447, 139586492-139586494
844FMR1X0.95523959978936851899146993726, 147009849-147009852, 147022139-147022181, 147024702-147024713, 147024831-147024846, 147026389-147026391, 147026403, 147026417-147026421
845AFF2X0.9977134146341593936147743429-147743437
846NSDHLX0.9991087344028511122152014896
847MECP2X0.920507682030731191497153295981-153296067, 153296194-153296202, 153296721-153296725, 153297661-153297665, 153363096, 153363099-153363102, 153363105-153363112
848OPN1LWX0.98995433789954111095153418510-153418520
849OPN1MWX0.835616438356161801095153453337-153453343, 153453446, 153453473-153453496, 153455586, 153455590, 153455598, 153455640-153455676, 153457285-153457309, 153458977-153459010, 153459036-153459084
850OPN1MWX0.860273972602741531095153490455-153490461, 153490564, 153490591-153490614, 153492704, 153492708, 153492716, 153492758-153492794, 153494403-153494427, 153496100-153496104, 153496107, 153496125, 153496154-153496202
851G6PDX0.734432234432234351638153760252-153760301, 153760408-153760412, 153760485-153760495, 153760601-153760613, 153760637-153760670, 153760909-153760942, 153760954-153760960, 153760992-153760995, 153761157-153761168, 153761178-153761207, 153761282-153761301, 153761791-153761804, 153761873-153761884, 153762331, 153762357-153762360, 153762569-153762583, 153762601, 153762604-153762619, 153762646-153762648, 153762654, 153762657-153762689, 153763383-153763426, 153763457-153763460, 153763516, 153763522-153763526, 153763529, 153763565-153763575, 153764184-153764185, 153764189, 153764193, 153764198-153764205, 153764210, 153764241-153764253, 153764364-153764386
852RAB39BX0.8660436137071786642154490188-154490195, 154490257-154490263, 154490275-154490314, 154490401-154490405, 154490428-154490453
853USP9YY0.9882629107981290766814821448-14821451, 14832599-14832600, 14847564-14847569, 14898566-14898582, 14922641, 14922712-14922718, 14924829-14924830, 14924922-14924927, 14952338-14952345, 14952358, 14954307-14954311, 14958258-14958266, 14958397-14958403, 14959073, 14959176-14959189
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3KCNQ1-P448Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
3KCNQ1-G643Shomozygous0.007Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KAL1-L624RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KAL1-S609PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KAL1-S570ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KAL1-G567ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KAL1-I565ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KAL1-V560FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KAL1-K529NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KAL1-S509ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2KAL1-R506WhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KAL1-A466VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2MTHFR-R594Qhomozygous0.040Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
2MTHFR-E429Ahomozygous0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2CFH-V62Ihomozygous0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-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
2SPATA7-R534Qhomozygous0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
2ABCC11-V648Ihet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.676 (possibly damaging)
2ABCC11-G180Rhomozygous0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
2CPT2-F352Chomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
2CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S3151Fhet unknownUnknown
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-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R532Whet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PARK2-S167Nhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5CDKN1A-S31Rhomozygous0.133Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BLMH-I443Vhomozygous0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MEFV-E148Qhet unknown0.012Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MEFV-L110Phet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
1ZNF598-C725Shomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-M637Thomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-G42ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-E25GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC6-R265Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-N3199Dhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-T3115Ahet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-L2886Fhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1APOE-R176Chet unknown0.068Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHRNA5-H462Qhomozygous0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
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
1PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PRODH-L289Mhet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MPL-L265FhomozygousUnknown
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
1WDR65-N241Dhomozygous0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1WDR65-C345Shomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
1WDR65-R660Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PMS2-P470Shomozygous0.375Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1COL6A2-S399Nhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL6A2-E536Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1COL6A2-R680Hhomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-T425Shomozygous0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1LAMA2-V1138Mhomozygous0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1LAMA2-L2016Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-I118Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF167-S112Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF167-GT84AAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF167-A26Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF167-G24Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC28A1-R510Chomozygous0.041Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1APH1B-F217Lhomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
1CYP19A1-R264Chet unknown0.079Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1ATP10D-N720Shomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CEP152-S793Ihomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DPYD-D923Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IRF6-V274Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1AOC2-E427Dhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-V2786Ihomozygous0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MCOLN1-Q135QVLVGGQhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EXT2-R299Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF532-E761Dhomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
1XCL2-R29Khomozygous0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1XCL2-H28Dhomozygous0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
1FAM114A1-S501*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1F5-Q2139Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-L1397Fhomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-R513Khomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK298931-W38*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1AK298931-T4ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TCEB3B-P598Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
1TCEB3B-C533Fhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1TCEB3B-G505Rhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
1TCEB3B-A403Shomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TCEB3B-R179Phomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NTRK1-M566ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-P76Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1F2-T165Mhomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1EID2-E60Ahomozygous0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-A546Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CCDC66-D5ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-E592Qhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
1CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CCDC66-S606SPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1OCA2-H615Rhomozygous0.001Complex/Other
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FCGBP-R4909Hhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1FCGBP-P4665Lhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
1FCGBP-DK3847EEhomozygous0.581Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1FCGBP-A3841Ehomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1FCGBP-H3668Rhomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1BC040901-C89Whomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BC040901-P93Shomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BC040901-A106Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1HRNR-R664Qhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FLG-Y2194Hhomozygous0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-H519Nhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DMXL1-V2067Mhomozygous0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
1DMXL1-T2107Shomozygous0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1POU4F3-T94IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FANCA-T1328Ahomozygous0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FANCA-G809Dhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MADD-V751Mhomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MADD-T878MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MPHOSPH10-L425Mhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
1KRT2-S101GFGGGSGFGGGSGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ST6GAL2-G154Rhomozygous0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.358 (possibly damaging)
1ST6GAL2-Y29Fhomozygous0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1CENPJ-M21Vhomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1EDAR-V370Ahomozygous0.011Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.485 (possibly damaging)
1MBL2-A153Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LRIT2-T510Phomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1LRIT2-V496Ahomozygous0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1LRIT2-L220Fhomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1LRIT2-K179Nhomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.827 (possibly damaging)
1ADAMTS13-R1000ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1ABCC4-G187Whet unknown0.017Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1WNK1-A141Thomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-V2108Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP11B2-G435Shomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests
1CA9-R131Whomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1UNC13B-E1232Dhomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CEP290-K838Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK300656-R11*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1KRT78-T306Ihomozygous0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
1ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-I883Mhomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-V825Ihomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1KCNQ3-E414Ghomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CYP11B1-A386Vhomozygous0.022Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1CYP11B1-N152Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CYP11B1-E147Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CYP11B1-R43Qhomozygous0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-G3347Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-P2575Rhomozygous0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-F2263Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AVPR2-G12Ehomozygous0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EGFR-R521Khomozygous0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FRMD7-E654AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OTOF-F303Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OTOF-R49WhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TTN-I28155VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-H11456Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A4199Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R3598Khet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-ML2852KMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S2831Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R1572Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MAGEE2-E120*homozygous0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1P2RY4-P352Thomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1P2RY4-I247Vhomozygous0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1P2RY4-N178Thomozygous0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1C12orf44-D85ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARSE-G402ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSE-V389MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75NOTCH3-R2009Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75NOTCH3-R107Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.75FLNC-A2537Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLNC-S2546Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FLNC-D2703Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75UBE3A-I150Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75UBE3A-L137Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-H3900Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625USH1C-P520Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-V1082Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-N307Khomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.625LMBRD1-R386*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF700-F287Chet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-G1321Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5OR7E24-I64Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging)
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNFAIP6-Q144Rhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNFAIP6-M225Ihet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MARCH7-T193Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CABYR-T74Mhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5CABYR-S490Ahomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-V14466Lhomozygous0.926Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-S14437Fhomozygous0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-Q13957Khomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-M13472Thomozygous0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-R13341Hhomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T12431Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-G12425Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-G12406Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-RRT12248QHPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-D12246Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-Q12242Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-T12140Mhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-A11199Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-I9920Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-H9513Qhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-K9429Nhomozygous0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-G9380Dhomozygous0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-I9213Thomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-D8344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-N8301Thomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-E8107Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MUC16-S7415Ghet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T7063Ahomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T6508Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MUC16-V6306Mhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T6252Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-I5751Thomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-H5741Dhomozygous0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-P5682Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-P5537Shomozygous0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-N5228Ihomozygous0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-R5084Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-T4394Ihet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-E3961Khomozygous0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-S3190Thomozygous0.571Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-K1266Nhomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FUT6-Y315*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT6-P124Shet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
0.5FUT6-R110Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAZ2B-N1545Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BAZ2B-P530Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNA1A-E992Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FPR1-E346Ahet unknown0.799Unknown
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-R190Whet unknown0.113Unknown
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
0.5ABCG8-Y54Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPDH-Q266Rhomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ASPDH-P6Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FUT2-I140Fhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-R257Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-K471Rhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-E496Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-H498Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXW4-A3Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5ZNF135-G22Dhet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF135-R193Chet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5NLRP9-I42Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NLRP7-V699Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP1B1-R48Ghomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5QPCT-H360Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD3EAP-Q504Khomozygous0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPHS1-E117Khomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5THAP8-R70Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BTBD16-R318Qhomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTBD16-H439Phomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTBD16-Q472Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging)
0.5RASSF7-P89Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FXYD3-G97Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL12RB1-A525Thet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.784 (possibly damaging), Testable gene in GeneTests
0.5IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLL3-E211Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF225-T679Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EIF2AK3-S136Chomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BMPR1A-P2Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEKT4-V135Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEKT4-K196Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TEKT4-A302Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TEKT4-Y304Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEKT4-H307Qhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEKT4-RD358GNhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEKT4-R391Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5ESPN-D299Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-R422Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-G454Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RGR-S245Fhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NMS-M1Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5BAG3-P407Lhomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYBA-V174Ahomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC9-P103Ahomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.071 (benign)
0.5TTC9-C214Fhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
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
0.5KIAA1377-G238Chomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1377-S275Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5KIAA1377-I281Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.05 (benign)
0.5KIAA1377-A302Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign)
0.5KIAA1377-S1077Nhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE2-I574Thomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-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-K3523Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.75 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-L3979Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.279 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-N3982Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5ALG9-V289Ihomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), 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
0.5TSHR-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
0.5CCDC83-R63Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
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
0.5GATM-Q110Hhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A1-A737Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A1-V958Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G4E-N371Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA1-E400Dhomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-R125Hhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5HERC2-I2210Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HERC2-K1656*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HERC2-R61Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HERC2-E57*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5AVEN-Q228Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
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
0.5CDH24-K258Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CDH24-L239Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRT1-K633Rhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PIP4K2C-A300Ghet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT72-R405Whet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT72-Y264Chet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KRT72-N171Dhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLL2-S4327Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5MLL2-N4208Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5MLL2-V1851Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SH2B3-T165Shet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.007 (benign)
0.5SH2B3-F182Lhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPSTI1-E395Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR10G8-Y122Chet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OR10G8-T196Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SGCG-R166Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SGCG-G278Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5PABPC3-Q172Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-E178Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PABPC3-A181Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.5PABPC3-L218Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R287Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-Q292*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PABPC3-V293Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-M326Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-F335Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-E345*het unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PABPC3-R505Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-V512Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC13C-G609Shomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13C-Y760Nhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5KRT39-L383Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KRT39-T341Mhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.158 (benign)
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5RAG1-K820Rhomozygous0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5MYO19-N176Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SLFN5-R655Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLFN5-A797Vhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC16A11-P443Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5SLC16A11-G340Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC16A11-D127Ghet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC16A11-V113Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5ZBTB4-E528Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZBTB4-A5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PLEKHM1-S706Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-R304Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-C290Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-L247Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-H146Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-D128Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-T113Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-A64Thet unknownUnknown
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
0.5UNC13D-K867Ehomozygous0.496Unknown
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
0.5USP36-S1023Chet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP36-K814Nhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.836 (possibly damaging)
0.5USP36-Q806Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK057217-P409Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK057217-Q310*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AK057217-R244Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ITGB4-L1779Phomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TBX4-A314Vhomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
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
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANKRD11-P2059Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5ANKRD11-P1638Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.679 (possibly damaging)
0.5ACSM2A-R115*het unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ACSM2A-V335Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM2A-T336Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM2A-V337Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM2A-S360Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM2A-N463Dhomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACSM2A-E484Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2CD3-P773Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.777 (possibly damaging)
0.5IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-E928Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEKT5-Q315Rhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEKT5-M239Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5ALG1-S267Nhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5MYO9A-I2390Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYO9A-H1805Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYO9A-G1193Ehet unknown0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTSL3-R59Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.5AIP-Q228Khomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIP-Q307Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TM7SF2-A119Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TM7SF2-T299Ihomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RLTPR-G845Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5RLTPR-R1324Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK-P5390Thet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5AHNAK-L4414Vhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.813 (possibly damaging)
0.5AHNAK-N3637Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-G2628Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK-V815Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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)
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH16-H257Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5TK2-P33Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-D1264Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-L57Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA21-R467*het unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LARP1-T303Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LARP1-D660Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIF4B-I220Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIF4B-M522Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5KIF4B-R580Lhet unknown0.781Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF4B-T757Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRCC1-H69Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRCC1-T210Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JAKMIP2-V106Ihet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH3TC2-G171Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-M1Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-V86Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Y88Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MICA-R29Phet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALDH5A1-G36Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-P182Lhet unknown0.026Unknown
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
0.5LEPR-K109Rhomozygous0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5DSP-Y1512Chomozygous0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5CASQ2-V76Mhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.551 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RIMS2-S278Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-Q2463Rhomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LIFR-D578Nhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GK-V304Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GK-G290Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZHX2-G779Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5SFTPC-T138Nhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-S186Nhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGB-R478Khomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FGA-I6Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.055 (benign), Testable gene in GeneTests
0.5HEATR7B2-L1179Phet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-N918Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-D648Vhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5HEATR7B2-V496Ihet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-W191Rhet unknown0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13B-G3407Rhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-M2311Vhomozygous0.101Unknown
not reviewed
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
0.5TMEM67-G75Ehet unknownUnknown
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
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HSD17B4-T687Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQGAP2-V455Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQGAP2-D527Ehomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-K532Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-L629Fhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-Y64Chet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-K166Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.683 (possibly damaging)
0.5CMYA5-G349Dhet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-G591Dhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-F594Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CMYA5-S651Rhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-V1006Ahet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.074 (benign)
0.5CMYA5-F1038Lhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.707 (possibly damaging)
0.5CMYA5-A1295Vhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-I1309Vhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-A1333Vhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-A1567Ehet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CMYA5-S1599Ahet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.831 (possibly damaging)
0.5CMYA5-I1713Nhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.819 (possibly damaging)
0.5CMYA5-I1721Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-A1875Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.143 (benign)
0.5CMYA5-D1917Ghet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-S1920Ghet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-V2262Lhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CMYA5-T2693Ihet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-R2708Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-K2906Nhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-H3358Qhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-R3927Qhet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VCAN-G428Dhomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-S6225Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G102Rhomozygous0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PON1-Q192Rhomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PON1-R160Ghet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TECPR1-L6Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5LIMK1-G190Ahet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL8A2-T502Mhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HUS1-Q147Khet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCB8-V111Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB8-R304Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCB8-G710Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC28B-R25Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-G286Ehet unknown0.023Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TMEM176A-G111Dhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5TMEM176A-T122Ahomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM176A-T208Ahomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.5TEKT2-R46Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FBXL13-Y565Chet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.554 (possibly damaging)
0.5LAMB4-N866Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5PRSS1-T135Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-K138Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GJB4-E204Ahet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5GPNMB-S294Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRIM2-E181Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-D204Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-N298Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRIM2-C302Rhomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G304*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRIM2-V310Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-T323Ahomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-D342Ghet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y345Chet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-R349Chet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G434Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL9A1-M767Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-Q621Rhet unknown0.389Unknown
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-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH9-V261Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5BSND-V43Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5CUL7-T1633Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BVES-R129Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.482 (possibly damaging)
0.5ORC1-T466Mhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.904 (probably damaging), Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFNL1-V344Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5SLFNL1-R144Thet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5COL9A2-Q326Rhomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5THSD7A-N583Dhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THSD7A-F238Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.845 (possibly damaging)
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R5780Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.762 (possibly damaging), 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-A2795Vhomozygous0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S613Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP12-K1218Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5AKAP12-E1531EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKAP12-E1689Dhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.35 (possibly damaging)
0.5WISP3-Q74Hhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAST2-D388Ehomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAST2-G1468Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.491 (possibly damaging)
0.5KIAA0467-R1520Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FABP7-T61Mhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.743 (possibly damaging)
0.5SMAD1-N147Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.103 (benign), Testable gene in GeneTests with associated GeneReview
0.5RRP15-K149Nhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5KRTAP10-5-R268Phet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KRTAP10-5-V235Lhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-5-F183Chet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-5-D20Nhet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5COL18A1-T379Mhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5COL18A1-Q1195Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FTCD-V101Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRTAP10-4-D31Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5KRTAP10-4-G285Chet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIRE-S278Rhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SURF1-D202Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.978 (probably damaging), Testable gene in GeneTests
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5PRDM15-S1481Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRDM15-T1376Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NDUFV3-R200*het unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NDUFV3-D415Nhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCNT-E302Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-Q1750Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-Q2659Hhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PCNT-R3245Shomozygous0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.5IL17RA-P562Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MFSD8-A423Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview
0.5HHIPL2-H391Dhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HHIPL2-V241Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
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-D1192Ehomozygous0.790Unknown
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
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OSM-T9Mhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.708 (possibly damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMCR7L-G78Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5IFNGR2-Q64Rhomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ATRX-Q929Ehomozygous0.509Unknown
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
0.5CHRNG-A149Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
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
0.5OBSL1-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-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-G1116Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.739Unknown
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-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhomozygous0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-S781Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANO7-V67Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ANO7-V435Ehet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.895 (probably damaging)
0.5FARP2-S896Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKR1C3-H5Qhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKR1C3-C145Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TUBB1-Q43Phet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5OR2T3-Y109Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TARDBP-A329Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TARDBP-MG337IChet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A1-T1757Mhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AVP-A124Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AVP-VTE111ESKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDRGK1-R164Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-C407Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-P85Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TET2-P29Rhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-R576Qhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDK5RAP2-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
0.5FCGR3A-F212Vhomozygous0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGR3A-Y194Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGR3A-G183Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IDUA-H33Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R1005Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R766Shifthomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phet unknown0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNIP2-E255Khet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNIP2-R73Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RALGPS2-N89Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B11-R259Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5PKD2-A190Thet unknown0.003Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5PKD2-N720Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-I419Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AASDH-A747Vhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AASDH-Q115Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CC2D2A-E613Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CC2D2A-R1445Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TLR1-S602Ihomozygous0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYL5-T86Ihet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5FLNB-D1157Nhomozygous0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-V1471Mhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.745Unknown
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
0.5CFI-T300Ahomozygous0.965Unknown
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-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5GBE1-R190Ghomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5COL15A1-M204Vhet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL15A1-M422Ihet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL15A1-A442Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTF2E1-P366Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5KCNMB3-L73Vhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KCNMB3-A51Thet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIT1-T255Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5CHIT1-R40Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.523 (possibly damaging), Testable gene in GeneTests
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5WDR49-K53Ehet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ITGB5-FNK790Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB5-R431Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYLK-E1066Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYLK-D914Ehomozygous0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MYLK-L861Phomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-R845Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYLK-L496Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-V261Ahet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MYLK-P147Shomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DFNB31-N796Khomozygous0.181Unknown
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-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thomozygous0.182Unknown
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
0.375TMEM43-V108Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-S1387Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.375HMCN1-V3731Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.375PCDH15-APAPLAPPP1768Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTS8-V802Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ADAMTS8-A525Vhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTS8-E78Dhomozygous0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRAMEF12-M157Thet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRAMEF12-C456*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MECR-M288Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MECR-F96Lhet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ROBO3-R191Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25ROBO3-R416Hhomozygous0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ROBO3-RS1367Delhomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAMTSL4-A193Phet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL4-G758Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMB3-V527Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview
0.25NRAP-A1350Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NRAP-I1183Vhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P110Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DMBT1-P42Thet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.25DMBT1-R1497Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25DMBT1-R2407Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C10orf120-A269Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf120-C255Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CNST-L87Shomozygous0.885Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNST-S323Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
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
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUC6-S1627Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-S1510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-SG1507IRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-N1476Ihomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-V619Mhet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-Q263Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PPFIA4-R49Qhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PPFIA4-R160Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PPFIA4-V712Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NUP160-T351Ahomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NUP160-D278Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NUP160-A40Thomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25MEN1-T546Ahet unknown0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CELSR2-A178Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELSR2-Y645*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KIAA1731-R208Qhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1731-A499Ehomozygous0.941Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KIAA1731-S1683Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1731-E2173Ahet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.26 (possibly damaging)
0.25KIAA1731-E2437Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP4-L1836Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRP4-A1203Vhomozygous0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIM22-L104Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TRIM22-D155Nhomozygous0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25FCGR2B-Q57*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FCGR2B-Q83Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANO5-L322Fhet unknown0.447Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25ANO5-R758Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DENND4B-Q910QQQQhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DENND4B-R8Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC2A9-P350Lhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-G25Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TBC1D19-EQ238QKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TBC1D19-Y247Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZBTB49-Y320Shet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZBTB49-A348Thomozygous0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZBTB49-E609Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZBTB49-Q765*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DOK7-H113Phet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-T137Ihet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25POLN-R425Chet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLN-G336Shet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.25POLN-G333Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25POLN-M310Lhet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25TBC1D1-S14Phet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TBC1D1-V228Ghomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TBC1D1-N315Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMPRSS11A-Q293Rhomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMPRSS11A-S12Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TTC37-V1385Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TTC37-A699Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25C4orf21-P1804Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C4orf21-Q1214*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-V547Mhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A3-A435Ehet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADCY6-G856Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADCY6-A259Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phet unknown0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CACNA1I-I1005Vhomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CACNA1I-G1747Rhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CACNA1I-G2155Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25C3orf30-I162Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C3orf30-Y363*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C3orf30-S447Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C3orf30-D473Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25STAB1-M912Vhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STAB1-R1122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25STAB1-A1833Phomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STAB1-N2149Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25STAB1-I2282Vhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STAB1-M2506Thet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CELSR1-C1126Rhomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELSR1-S664Whomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.673 (possibly damaging)
0.25CELSR1-A396Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FANCD2-N405Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview
0.25VILL-H480Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VILL-R529Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPB41L4A-R630Hhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EPB41L4A-N532Shet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EPB41L4A-N532Shet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EPB41L4A-Y495Hhomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DOCK5-Q1023Rhomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.86 (probably damaging)
0.25DOCK5-E1237Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DOCK5-K1285Rhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), 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
0.25C8orf49-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
0.25SVOPL-F385Chomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25SVOPL-D326Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SVOPL-R227Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF216-R525Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF216-E94*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25AK097289-V20Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK097289-L37Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKHD1L1-Y440Hhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.25PKHD1L1-RT800KLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKHD1L1-H923Rhet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKHD1L1-R1514Shet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKHD1L1-V1637Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKHD1L1-V1965Lhet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PKHD1L1-H3050Qhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKHD1L1-N3839Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRRC2B-T936ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRRC2B-P981LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRRC2B-M1044ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRRC2B-A1276Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRRC2B-R2110Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25ZNF462-Q1103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF462-N1828Shomozygous0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAG1-G45Rhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAG1-A7Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PLEC-R2969Hhet unknown0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEC-S2791Phet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEC-A2194Vhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPT-H14Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CARD11-A581Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CARD11-R555Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IGF2R-G1140Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IGF2R-D1317Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IGF2R-R1619Ghomozygous0.911Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IGF2R-N2020Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F12-A207Phet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDHB10-T213Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.885 (probably damaging)
0.25PCDHB10-R543Shomozygous0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDHB10-L660Vhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDHR2-V424Ahomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDHR2-T807Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDHR2-L1164Mhomozygous0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH8-N71Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.25DNAH8-G473Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH8-A727Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25DNAH8-G807Ehet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH8-T2301*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KIF6-R648Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIF6-R512Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign)
0.25RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARHGAP18-L626Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARHGAP18-T23Ahomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRERF1-R98HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TRERF1-H56Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CRIP3-I188Thet unknown0.436Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CRIP3-R146*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C20orf186-R69Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C20orf186-V74Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C20orf186-D199Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C20orf186-N320Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C20orf186-F527Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C20orf186-T533Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf50-D22Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf50-E138Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRSS53-P406Ahomozygous0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRSS53-Y381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25ZNF668-Q515Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF668-V25Lhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRR14-M280Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRR14-P359Lhomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25INO80E-G124Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25INO80E-T212Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CNGB1-L700Fhet 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
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TNFRSF13B-P251Lhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH3-A1192Thet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH3-R1130Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYBBP1A-D783Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYBBP1A-R636Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CR623477-C145RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CR623477-Q139Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CR623477-AV133TGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CR623477-Q123Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CR623477-V10Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BTBD7-P759Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BTBD7-P757PWShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25HPD-T33Ahet unknown0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYBPC1-N492Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYBPC1-H506Qhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LARP4-H701Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LARP4-R710*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-N227Shet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DNAH10-S167Phomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH10-I480Vhomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH10-L1631Vhet unknown0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH10-N3221Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DHX37-R1081Qhomozygous0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.136 (benign)
0.25DHX37-S869Ghomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DHX37-S730Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25RIN3-L354Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RIN3-G972Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HECTD1-I2041Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HECTD1-L2027Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLN5-K368Rhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CTLA4-L25Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TRPM8-S419Nhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRPM8-E768Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT8B-R135Whomozygous0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NAT8B-G111Ahomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT8B-A49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NAT8B-R22Ghomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARHGEF33-S582Phomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARHGEF33-S583Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25TNS1-V1604Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNS1-W1197Rhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNS1-L975Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-A2872Thomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCN9A-W1150Rhomozygous0.878Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN9A-D1018Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EPS8L1-E128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EPS8L1-K669Rhet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.25AXL-N266Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AXL-H292Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MOCOS-T170Ihet unknown0.911Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-S184Ghomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-H225Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25MOCOS-V358Mhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-A510Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LLGL2-R45Hhomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25LLGL2-R504Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BC033456-K101Ehomozygous0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BC033456-P53Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF585B-T427Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF585B-I123Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ICAM1-K56Mhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRX-G1132Rhet unknown0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRX-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
0.25ZNF527-Q202Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF527-H213Rhomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_014727-S1741Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_014727-D2361Ghet unknown0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_014727-E2596Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EMR2-L565Fhomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EMR2-S521*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25EMR2-L160Vhomozygous0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.221 (possibly damaging)
0.25LSR-R519RRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LSR-D627Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0PAX2-V26Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0GJB2-V37Ihet unknown0.001Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.938 (probably damaging), Testable gene in GeneTests with associated GeneReview
0RYR1-P3303Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0TINF2-P431Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0PABPN1-A43Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0SHANK3-A1243Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HTRA2-A116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,659,997,541 bases (93.1% of callable positions, 86.4% of total positions)

Coding region coverage: 31,750,789 bases (95.4% of all genes, 96.6% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in